hu3DC5EA - GET-Evidence variant report

Variant report for hu3DC5EA

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
2FLG-S761ShiftModerateUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.00793651Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. Some authors report the variant has incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale.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
4MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
5APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
6AGBL1-R1028XLowUncertainUncertain pathogenic

Dominant, Heterozygous
Despite a relatively high allele frequency, Riazuddin et al. 2013 reported finding it causing high penetrance Fuchs endothelial corneal dystrophy in a three generation family. The authors claimed that the allele frequency in the general population (1 in 330 Europeans are carriers) was not inconsistent with their hypothesis, as it is "considerably below" the >4% incidence of this late onset disease. Although the variant is rarer than the disease, the authors' hypothesis implies the variant accounts for a very significant fraction of the disease (>5%), and would be easily confirmed with case/control studies. The combination of a lack of confirming evidence, and relatively high allele frequency,appears to contradict the hypothesis proposed by Riazuddin et al.1
7RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
8ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
9ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
10H6PD-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
11SP110-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
12BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
13ADRB2-T164ILowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.0109686This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.1
14rs1544410LowUncertainUncertain 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
15FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
16PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
17NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
18CFH-V62ILowLikelyLikely protective

Complex/Other, Homozygous
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
19KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
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
20IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
21IRS2-G1057DLowUncertainUncertain protective

Unknown, Homozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
22ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
23NEFL-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
24MYO7A-R302HLowLikelyLikely benign

Unknown, Heterozygous
0.00170487Weston, et al. 1996 reported seeing this on the same DNA strand with another variant in a couple cases of Usher Type I syndrome. That other variant was believed to cause disease in a recessive manner, while this variant was speculated to be coincidental observed. ExAC allele frequency data confirms that this variant is merely uncommon in Europeans (1 in 170 are carriers). If it were causal, it would be a well-established cause; the lack of such evidence in the literature confirms that the variant is not a "Mendelian" cause of Usher Type I syndrome.1
25CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
26OCA2-R419QLowLikelyLikely benign

Unknown, Homozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
27SCN9A-K655RLowLikelyLikely benign

Unknown, Heterozygous
0.00124507Singh et al. 2009 studied a large family with febrile seizures, linking this region as causal. Then, analyzing a panel of 92 patients with childhood febrile seizures, and 109 Dravet cases (total of 201 patients), they saw 3 carriers of this variant (once in former, twice in latter), and not it in 562 Caucasian control chromosomes (281 individuals). Neither patient nor control findings have a statistically significant difference the variant frequency according to ExAC data (where 1 in 173 are carriers). This paper was proposing a high penetrance hypothesis, but if this were true we would see a dramatic enrichment of the variant in patients.1
28MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
29LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
30RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Homozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
31POLG-Y831CLowUncertainUncertain benign

Unknown, Heterozygous
0.00799405A rare polymorphism in POLG, probably benign. A small study of a nuclear family hypothesized it was causing Parkinson disease, but a later study found no significant difference in incidence between cases (1/140) and controls (5/127).1
32NOTCH3-P496LLowUncertainUncertain benign

Unknown, Heterozygous
0.015625Presumed benign, seen in two healthy PGP participants.1
33DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
34TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
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
35PCCA-I475VLowUncertainUncertain benign

Unknown, Homozygous
0.0377394Reported as a polymorphism, tentatively presumed benign.1
36PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
37GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
38HR-T1022ALowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0969511Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease.1
39FANCA-S1088FLowUncertainUncertain benign

Unknown, Homozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
40DSPP-R68WLowUncertainUncertain benign

Unknown, Heterozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
41APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
42MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
43ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
44SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
45SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
46PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
47PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
48TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32186099 / 33212919 = 96.91%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.6445096122515521826138955553-955753, 957619-957633, 957695-957712, 957739-957749, 957752-957754, 957771-957842, 970657-970665, 970690-970704, 976045-976087, 976114-976143, 976153-976185, 976198-976260, 976553-976566, 976579-976590, 976594, 976600-976633, 976648, 976653-976663, 976672-976710, 976716-976777, 976866, 976870-976872, 976889, 976893, 976896, 976911, 976914-976916, 976930-976968, 976992, 977414-977416, 977426, 977433, 977454-977492, 978620, 978633-978653, 978686, 978692-978697, 978744, 978773-978774, 978783, 978787-978792, 978809, 978957-978968, 979043-979112, 979306-979322, 979361-979390, 979489-979493, 979611-979612, 980591-980596, 980609, 981113-981114, 981234-981242, 981357-981369, 981604-981624, 981644-981645, 981786-981835, 981861-981900, 981916-981961, 981968-981995, 982032-982054, 982097, 982200-982257, 982260, 982277-982293, 982307-982314, 982317, 982322, 982727-982749, 982953-982964, 982994, 983017, 983156-983196, 983232, 983235-983240, 983253-983255, 983392-983404, 983450-983454, 983463-983482, 983541, 983558-983745, 984247-984263, 984290-984307, 984325-984439, 984618-984708, 984720-984726, 984740-984768, 984801, 985112, 985131-985165, 985304-985327, 985332, 985338-985363, 985819-985821, 986133-986166, 986199, 986645-986648, 986668-986676, 986701-986746, 986833-986836, 986855-986917, 986929, 986942, 986955-986960, 987108-987124, 987171-987195, 990237, 990245
2GABRD10.8042678440029426613591950863-1950925, 1956429, 1956459, 1956803-1956806, 1956957-1956959, 1957009, 1957037, 1957074, 1957127-1957133, 1957165-1957177, 1960566-1960606, 1960635-1960641, 1960683-1960684, 1960698-1960705, 1960990-1961026, 1961089, 1961163-1961187, 1961196-1961201, 1961422-1961443, 1961453, 1961456-1961459, 1961525, 1961552, 1961556, 1961641-1961650, 1961658-1961660, 1961667
3PEX1010.89908256880734999812337928, 2337932-2337934, 2337939, 2337949, 2337954, 2340019-2340023, 2343830-2343849, 2343852-2343904, 2343924-2343926, 2343929-2343939
4NPHP410.973604298061211342815950946-5950955, 6012780-6012783, 6012787, 6038330, 6038354-6038366, 6038384-6038410, 6038413-6038469
5ESPN10.7442495126705765625656485023, 6485026-6485064, 6485073, 6485077, 6485105-6485140, 6485165-6485172, 6485204-6485289, 6485298-6485309, 6488301-6488336, 6488381, 6488426-6488432, 6500386-6500392, 6500421-6500437, 6500467, 6500478-6500480, 6500694-6500717, 6500734-6500800, 6500830-6500868, 6500994-6500998, 6501026-6501065, 6505726-6505738, 6505849-6505854, 6505867, 6505888-6505937, 6508726-6508733, 6508828-6508857, 6508882-6508888, 6508922-6508928, 6508973-6508988, 6509054-6509062, 6511676-6511709, 6511907-6511913, 6512127-6512156, 6517286-6517292
6PLEKHG510.987143305111324131896527901, 6528172, 6529183-6529185, 6530621, 6533408, 6534539-6534541, 6534622, 6534629-6534632, 6534636-6534647, 6535533-6535536, 6556587, 6556590-6556594, 6557380-6557383
7PEX1410.992945326278668113410684433-10684437, 10690012-10690014
8TARDBP10.9309236947791286124511082261, 11082322-11082362, 11082519-11082538, 11082582-11082605
9MASP210.90926734594857187206111102960-11102961, 11102973, 11102998-11103019, 11103397-11103416, 11103432, 11103442-11103452, 11103456-11103459, 11103481-11103482, 11103494-11103505, 11103532-11103561, 11103571-11103577, 11105479-11105481, 11105497, 11105505, 11105525, 11106774-11106790, 11106949-11106995, 11107260-11107264
10PLOD110.999542124542121218412023673
11CLCNKA10.83381782945736343206416353254-16353260, 16356464-16356486, 16356494-16356502, 16356518, 16356522, 16356531-16356533, 16356551, 16356956-16356965, 16356974-16357058, 16357097-16357126, 16357137, 16358205-16358227, 16358251-16358314, 16358719-16358735, 16358750-16358751, 16358760-16358770, 16358779-16358780, 16358938-16358961, 16358996, 16359006-16359009, 16359686, 16359729, 16360106-16360111, 16360138-16360153
12CLCNKB10.91279069767442180206416370988-16370991, 16371024-16371030, 16371066-16371067, 16371079, 16371085, 16372059-16372099, 16372166-16372176, 16373044-16373058, 16373121, 16373124-16373125, 16374409, 16375703-16375726, 16376191, 16377038-16377043, 16377088, 16377380, 16377475-16377480, 16377499, 16378033-16378042, 16378265-16378271, 16378714-16378745, 16378806, 16380243, 16380252, 16383364-16383365
13ATP13A210.9926615862263626354317313059-17313061, 17313599-17313618, 17313682, 17314882, 17314953
14HSPG210.991196114146931161317622149852-22149853, 22150643-22150651, 22154542-22154545, 22154763, 22155545-22155553, 22155994-22155995, 22156096-22156097, 22181422-22181431, 22199149-22199153, 22199521-22199529, 22263648-22263710
15WNT410.9270833333333377105622469339-22469415
16HMGCL10.99897750511247197824134721
17FUCA110.995717344753756140124189727, 24194426, 24194729-24194732
18SEPN110.89028776978417183166826126722-26126904
19KCNQ410.9770114942528748208841249766-41249773, 41249808-41249825, 41249862-41249865, 41249869, 41249876, 41249953-41249956, 41284289-41284300
20CLDN1910.99555555555556367543201555-43201557
21LEPRE110.998643147896883221143232453-43232454, 43232520
22DHCR2410.998065764023213155155352592-55352594
23PCSK910.9971139971146207955505553-55505558
24LEPR10.999428244711262349866036448-66036449
25AGL10.999782561426414599100387206
26COL11A110.99285321605278395457103363725-103363734, 103364251-103364277, 103364299, 103488395
27GSTM110.56925418569254283657110230496-110230531, 110230792-110230796, 110231302, 110231691, 110231701, 110231724-110231726, 110231747, 110231871-110231947, 110232908-110232910, 110232918-110232952, 110232960-110232988, 110233076-110233130, 110233138, 110233152-110233186
28NOTCH210.98799892125135897416120539665-120539714, 120539778-120539784, 120539916, 120539936, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120611957-120611967
29FLG10.9917118004267210112186152276715-152276729, 152278431-152278437, 152279378-152279409, 152281578-152281592, 152281767-152281774, 152285216, 152286402, 152286406-152286411, 152286843-152286858
30PKLR10.9959420289855171725155269988-155269994
31NTRK110.999581764951912391156830730
32F510.99475655430712356675169510337-169510370, 169510475
33CFH10.9883658008658433696196716353-196716395
34CFHR110.997985901309162993196801042, 196801078
35CFHR510.9976608187134541710196963210-196963212, 196963216
36ASPM10.99980831895726210434197093301, 197108991
37ADCK310.9994855967078211944227171804
38GJC210.641666666666674731320228345498-228345508, 228345563, 228345655-228345658, 228345684-228345693, 228345713-228345737, 228345765, 228345816-228345855, 228345909-228345950, 228345962-228345971, 228345997, 228346002, 228346009-228346011, 228346053, 228346058-228346070, 228346081-228346132, 228346200, 228346209, 228346217, 228346227, 228346233, 228346237, 228346284, 228346287-228346288, 228346292-228346316, 228346319-228346341, 228346354-228346416, 228346424-228346458, 228346471, 228346476-228346491, 228346542-228346562, 228346575-228346618, 228346663, 228346668, 228346745-228346763
39RYR210.998993558776171514904237821265-237821279
40NET1100.99776661083194417915454750, 5454754-5454755, 5454761
41GATA3100.99925093632959113358100736
42DCLRE1C100.9894179894179922207914981847-14981868
43PTF1A100.936170212765966398723481642-23481674, 23481704, 23481707-23481718, 23481746-23481762
44RET100.979671150971668334543572707-43572774
45ERCC6100.9953145917001321448250740818-50740838
46CDH23100.9991050119331791005673439213, 73464770-73464777
47GLUD1100.9838998211091227167788854479-88854502, 88854507-88854509
48HPS1100.9976258309591652106100177418, 100177421-100177424
49FBXW4100.9967715899919341239103454285-103454287, 103454296
50HPS6100.98410652920962372328103825382, 103825440-103825453, 103825485-103825506
51BAG3100.99421296296296101728121411348, 121411353-121411358, 121411365-121411367
52HTRA1100.853776853776852111443124221169-124221331, 124221353-124221380, 124221447, 124221483-124221486, 124221606-124221620
53UROS100.991228070175447798127477437-127477443
54HRAS110.9614035087719322570532636-532648, 533495-533496, 533499, 534232-534235, 534238, 534242
55TALDO1110.97830374753452221014763401-763421, 763425
56SLC25A22110.74588477366255247972791915-791931, 791991-792001, 792142-792156, 792205-792217, 792357-792390, 792554-792567, 792628-792636, 792641-792645, 792671-792706, 792870-792917, 792939, 792965-792986, 793588, 794776-794794, 794841, 794859
57PNPLA2110.97887788778878321515819719-819732, 819768-819772, 819818-819821, 819870, 819891-819896, 823729, 824842
58CTSD110.940274414850697412391775296, 1778570-1778572, 1780864-1780865, 1785022-1785089
59TNNI2110.96903460837887175491861647-1861657, 1861664, 1861777-1861780, 1861784
60TNNT3110.574002574002573317771946329, 1947939, 1950350-1950365, 1951040-1951046, 1951054-1951058, 1954955-1954974, 1954978, 1954982, 1955023, 1955064-1955067, 1955161-1955238, 1955585-1955591, 1955618-1955675, 1955776-1955787, 1955831-1955833, 1955869-1955879, 1956063-1956080, 1956100-1956136, 1958221-1958233, 1959668-1959704
61IGF2110.9704641350211217112154224-2154231, 2154338-2154343, 2154399-2154404, 2161417
62TH110.6653968253968352715752185494-2185503, 2185536-2185556, 2185593, 2185602, 2185605, 2185608, 2185612, 2186501-2186517, 2186536-2186556, 2186568-2186595, 2186953-2186956, 2187722-2187779, 2187863-2187986, 2188117-2188129, 2188171-2188237, 2188253-2188262, 2188665-2188710, 2189789-2189803, 2190926-2190930, 2190971-2190989, 2190995-2191022, 2191025-2191028, 2191932-2191955, 2191963-2191970
63KCNQ1110.8517971442639130120312466329-2466421, 2466427-2466475, 2466496-2466551, 2466559-2466594, 2466597-2466623, 2466633-2466671, 2608822
64CDKN1C110.217665615141967449512905234-2905236, 2905252-2905267, 2905317-2905352, 2905363-2905364, 2905913-2906070, 2906080-2906155, 2906159-2906161, 2906165-2906266, 2906273-2906525, 2906550-2906595, 2906601-2906641, 2906694-2906701
65SMPD1110.994198312236291118966411931-6411941
66WT1110.9877734877734919155432456619-32456621, 32456625, 32456662-32456673, 32456676, 32456738, 32456845
67PEX16110.9846301633045116104145939251-45939265, 45939295
68TMEM216110.99242424242424226461165326, 61165330
69SLC22A12110.98555956678724166264367203, 64367262-64367284
70PYGM110.9960458679319910252964521479-64521488
71CABP4110.960144927536233382867223077-67223097, 67223106-67223112, 67225914-67225916, 67225926-67225927
72AIP110.7744209466263822499367256881-67256886, 67257523, 67257554-67257561, 67257574, 67257582, 67257631-67257645, 67257661, 67257787-67257804, 67257827-67257877, 67257908-67257928, 67258270-67258309, 67258322-67258340, 67258376, 67258382-67258400, 67258431-67258433, 67258436-67258448, 67258457, 67258460-67258464
73NDUFS8110.976303317535551563367799778-67799792
74TCIRG1110.9911752908142822249367810291, 67811313-67811315, 67811353-67811355, 67817143-67817148, 67817179-67817187
75LRP5110.97689768976898112484868080183-68080257, 68080265-68080273, 68207339-68207362, 68207382-68207384, 68216468
76CPT1A110.998708010335923232268552306-68552308
77IGHMBP2110.998658618376934298268671476-68671479
78DHCR7110.99369747899169142871146421-71146429
79MYO7A110.805505415162451293664876873348-76873349, 76873353-76873354, 76883827, 76883831, 76883848-76883851, 76883858-76883861, 76883903-76883907, 76885815, 76885818-76885824, 76885830, 76885836-76885841, 76885851-76885869, 76885900-76885907, 76885920, 76885925-76885934, 76885957-76885960, 76886438-76886507, 76888595-76888637, 76888645-76888648, 76888664-76888681, 76890091-76890147, 76890156-76890175, 76890781-76890908, 76890914-76890999, 76891420-76891527, 76892426-76892524, 76892536, 76892546-76892553, 76892568-76892635, 76892997-76893068, 76893106-76893174, 76893184-76893200, 76893469-76893503, 76893535-76893564, 76893609-76893645, 76894113-76894178, 76895675-76895681, 76895715-76895739, 76895749-76895760, 76900406-76900416, 76900437, 76900443, 76900450, 76901065-76901067, 76901146-76901162, 76901769-76901800, 76901815-76901816, 76901883-76901892, 76903096-76903141, 76903177, 76903280-76903286, 76909558, 76910782-76910784, 76910787
80TRPC6110.99535050071531132796101359759-101359771
81APOA1110.9838308457711413804116706797-116706809
82CACNA1C120.998018594726411365612676893-2676898, 2794934-2794940
83VWF120.990523572613128084426125718-6125724, 6128297-6128303, 6131926-6131932, 6131955-6131982, 6132003-6132033
84TNFRSF1A120.99780701754386313686438605-6438607
85TPI1120.9906666666666777506976731-6976737
86ATN1120.99916036943745335737045892-7045894
87ABCC9120.999569892473122465022068668-22068669
88KRAS120.9859649122807857025368386-25368393
89DNM1L120.9873360470375428221132832385, 32866226-32866252
90PKP2120.9960222752585510251433049528-33049537
91LRRK2120.999868143459921758440687373
92COL2A1120.998879928315415446448398062-48398066
93MLL2120.99813410376791311661449427123, 49427254-49427265, 49427268-49427277, 49431291-49431293, 49431517, 49431521-49431522, 49433318, 49433373
94KRT81120.9683794466403248151852682999-52683005, 52684021-52684061
95KRT86120.9767282683093834146152696901-52696933, 52697952
96GNS120.9909584086799315165965152964-65152971, 65153009-65153015
97LEMD3120.998538011695914273665563620-65563623
98CEP290120.9982526881720413744088471557-88471560, 88472954-88472961, 88534741
99TMPO120.997601918465235208598921715-98921719
100UNG120.998938428874731942109536324
101TRPV4120.9984709480122342616110221556, 110230181-110230183
102ATXN2120.860984271943185483942112036590-112036827, 112036865-112036880, 112036893-112037087, 112037093-112037123, 112037199-112037227, 112037230, 112037255, 112037258-112037289, 112037314-112037318
103SACS130.9998544395924321374023908434-23908435
104BRCA2130.9995125280296451025732911443, 32911449-32911452
105FREM2130.9971608832807627951039261568-39261570, 39261577, 39261744-39261764, 39261797-39261798
106RB1130.999282382490132278748934153, 48937056
107ZIC2130.921200750469041261599100634391, 100634394-100634409, 100634444-100634446, 100634463, 100634522-100634527, 100635008-100635013, 100637608-100637617, 100637729-100637733, 100637736-100637739, 100637745, 100637755-100637759, 100637794-100637795, 100637802-100637853, 100637923-100637936
108COL4A1130.9992015968063945010110959334-110959337
109F7130.689887640449444141335113760156-113760169, 113760178, 113760187-113760188, 113760195-113760203, 113760206, 113765004-113765028, 113765037-113765057, 113765073-113765089, 113765108-113765135, 113765158-113765163, 113769974-113770031, 113770045-113770048, 113770067-113770068, 113770071, 113770074, 113770078, 113771787, 113772750-113772776, 113772793-113772827, 113772841-113772862, 113772885-113772916, 113772934-113772936, 113772952, 113772967, 113773022-113773060, 113773079-113773080, 113773089, 113773116, 113773132-113773143, 113773164-113773182, 113773191, 113773274, 113773298-113773322
110F10130.97341513292434391467113777177-113777190, 113777220-113777229, 113803539, 113803555-113803558, 113803663-113803666, 113803702, 113803705-113803709
111GRK1130.97281323877069461692114322237-114322240, 114325814-114325826, 114325878-114325887, 114325948-114325956, 114426078, 114426085-114426093
112PABPN1140.891422366992410092123790681-23790683, 23790716-23790719, 23790733-23790734, 23790751-23790752, 23790842, 23790885-23790923, 23790933-23790980, 23791020
113NRL140.981792717086831371424550556, 24550590-24550595, 24550600-24550605
114FOXG1140.75850340136054355147029236521-29236530, 29236620-29236964
115NKX2-1140.999170812603651120636986742
116FANCM140.998698552139258614745618116, 45623961, 45623981, 45623990-45623991, 45654542-45654544
117C14orf104140.9876690533015131251450094759-50094766, 50100681-50100683, 50101128, 50101353-50101370, 50101461
118L2HGDH140.99928160919541139250778816
119GCH1140.99601593625498375355369210, 55369216, 55369272
120ZFYVE26140.99986876640421762068241759
121EIF2B2140.992424242424248105675471584-75471591
122POMT2140.9831335996449238225377786850-77786868, 77786972, 77786991-77787008
123GALC140.99805636540334205888459444-88459446, 88459448
124AMN140.457415565345087391362103390132-103390164, 103394773-103394777, 103394825-103394850, 103395113-103395119, 103395176-103395206, 103395255-103395309, 103395458-103395471, 103395487-103395508, 103395514-103395540, 103395555-103395562, 103395589-103395595, 103395806-103395823, 103395827-103395834, 103395851-103395866, 103395992-103396006, 103396009, 103396015-103396021, 103396261-103396294, 103396302-103396304, 103396315-103396353, 103396356-103396363, 103396375-103396406, 103396502-103396664, 103396743-103396776, 103396804-103396830, 103396913-103396952, 103396959-103397017
125INF2140.80247413750105167713, 105167859-105167863, 105167924-105167925, 105167928-105167936, 105167970-105167984, 105169636, 105169646-105169656, 105169764-105169781, 105170268-105170271, 105170279, 105170282, 105172377-105172401, 105173275, 105173288, 105173292-105173294, 105173364, 105173633, 105173722-105173728, 105173755-105173804, 105173901-105174193, 105174202-105174217, 105174253, 105174256-105174257, 105174308-105174309, 105174313-105174314, 105174318, 105174327-105174337, 105174800-105174826, 105174830-105174843, 105174893-105174905, 105174908-105174910, 105175008-105175016, 105176468-105176487, 105176505, 105176508, 105176519, 105177340, 105177430-105177433, 105177467, 105177476-105177523, 105178010, 105178013, 105178022, 105178817, 105178826-105178836, 105178851-105178880, 105178883-105178885, 105179317-105179318, 105179626-105179630, 105179832-105179833, 105180546-105180552, 105180558-105180560, 105180614-105180618, 105180771-105180772, 105180775, 105180896, 105180925-105180938, 105180957, 105181011-105181017, 105181029, 105181033, 105181048, 105181175-105181186
126NIPA1150.8252525252525317399023086234-23086403, 23086409-23086411
127OCA2150.998808104886773251728273150-28273151, 28273156
128CHST14150.989389920424412113140763521-40763532
129STRC150.9977477477477512532843897499, 43907888-43907894, 43910440, 43910867-43910869
130STRC150.996410256410267195044007350-44007356
131GATM150.999213836477991127245670616
132CEP152150.999798590130921496549076239
133CLN6150.969017094017092993668521840-68521860, 68521909-68521916
134HEXA150.997484276729564159072668133, 72668280-72668282
135HCN4150.89479512735327380361273614885, 73614889, 73660002-73660004, 73660054-73660072, 73660078, 73660095-73660132, 73660135-73660148, 73660170-73660183, 73660188-73660194, 73660202-73660262, 73660286-73660298, 73660305-73660307, 73660317-73660363, 73660404, 73660407, 73660416-73660472, 73660478-73660531, 73660542-73660574, 73660593, 73660598, 73660602-73660611
136PSTPIP1150.22861710631495965125177310489-77310536, 77310585-77310589, 77310818-77310823, 77310855-77310872, 77317638, 77317641-77317657, 77317839-77317840, 77317845-77317847, 77317852-77317857, 77317875, 77317879, 77317887-77317922, 77320223-77320244, 77320896-77320986, 77321870-77321915, 77322843-77322881, 77322888-77322919, 77323521-77323619, 77324648-77324735, 77325203-77325235, 77325245-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
137POLG150.99919354838713372089876828-89876830
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139BLM150.9894217207334345425491337534-91337547, 91337556-91337586
140IGF1R150.9968323586744613410499192892-99192904
141HBZ160.8787878787878852429202982-202983, 202990-202996, 203956-203957, 203963-203967, 204271-204306
142HBA2160.8554778554778662429222912-222937, 222962-222997
143GNPTG160.98257080610022169181402109-1402112, 1402115-1402120, 1402242-1402245, 1402283-1402284
144CLCN7160.9292803970223317124181496632-1496637, 1496717-1496718, 1497054-1497055, 1497393-1497395, 1497421-1497483, 1498468-1498474, 1499014-1499019, 1499067-1499069, 1499277-1499296, 1500531-1500534, 1500618-1500636, 1500665-1500667, 1501678-1501689, 1502881-1502887, 1504464-1504466, 1524865-1524867, 1524911-1524913, 1524971-1524975
145IGFALS160.8079710144927537119321840606, 1840610-1840612, 1840623, 1840653, 1840656-1840657, 1840661, 1840833-1840834, 1840842, 1840890-1840914, 1840953-1840970, 1841006-1841012, 1841059-1841084, 1841106-1841119, 1841220-1841224, 1841230, 1841250, 1841292-1841303, 1841380-1841383, 1841394, 1841450-1841484, 1841503-1841532, 1841538-1841557, 1841574-1841592, 1841612-1841624, 1841674-1841703, 1841917-1841933, 1841962-1841963, 1841966-1841971, 1842016-1842018, 1842072, 1842078, 1842084-1842091, 1842111-1842112, 1842115, 1842121-1842127, 1842209, 1842239-1842240, 1842252-1842253, 1842347-1842390, 1842470
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147TSC2160.3969395280236327154242098617-2098618, 2098652-2098677, 2098716-2098728, 2103343-2103357, 2103365, 2103413-2103443, 2104418-2104422, 2106197-2106215, 2108753-2108809, 2108864-2108872, 2110699-2110748, 2110773-2110796, 2110803, 2110809, 2111917, 2111975-2112009, 2112975-2112987, 2113005, 2113012, 2113016-2113024, 2114280-2114323, 2114345-2114353, 2114358-2114360, 2114372-2114423, 2115593, 2115600-2115607, 2115630-2115636, 2120457-2120481, 2120487, 2120492-2120504, 2120507-2120514, 2120547, 2120568-2120579, 2121511-2121512, 2121516, 2121535-2121536, 2121542-2121545, 2121588, 2121591-2121598, 2121606-2121617, 2121805, 2121813, 2121838-2121886, 2121913-2121935, 2122248-2122255, 2122258-2122270, 2122340-2122364, 2122850-2122875, 2122937-2122948, 2122959, 2124201-2124225, 2124252, 2124266-2124380, 2125800-2125807, 2125832, 2125855-2125871, 2126069-2126091, 2126146-2126168, 2126498-2126586, 2127599-2127604, 2127639-2127640, 2127651-2127727, 2129033-2129057, 2129099-2129113, 2129118-2129123, 2129126, 2129151-2129197, 2129281-2129429, 2129558-2129606, 2129630-2129670, 2130170, 2130179-2130185, 2130192-2130260, 2130273-2130364, 2131596-2131609, 2131613, 2131616-2131632, 2131635-2131636, 2131641, 2131661-2131698, 2131715-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134549, 2134564-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137865-2137942, 2138049-2138093, 2138100-2138140, 2138228-2138256, 2138275, 2138282, 2138290-2138326, 2138447-2138453, 2138475-2138611
148PKD1160.01208178438661712756129122139728-2140195, 2140286-2140380, 2140386-2140591, 2140675-2140710, 2140718-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142532, 2142549-2142593, 2142955-2143094, 2143557, 2143561-2143568, 2143577-2143655, 2143672-2143674, 2143683-2143735, 2143812-2143835, 2143850-2143851, 2143858-2143881, 2143891-2143905, 2143914-2144014, 2144093-2144142, 2144144, 2144156, 2144159, 2144162-2144206, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168262, 2168274-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169348, 2169357-2169379, 2185476-2185690
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150SLX4160.997820163487741255053632528-3632534, 3639774, 3642816-3642818, 3646335
151CREBBP160.993041342611545173293778440-3778442, 3778446, 3778449-3778452, 3778570, 3778792-3778793, 3778977, 3779064-3779067, 3779143, 3779149-3779173, 3779408, 3779414, 3929901, 3929912-3929917
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281SUCLG120.999039385206531104184686327
282REEP120.983498349834981060686564624-86564633
283EIF2AK320.998209489704576335188926730-88926732, 88926777-88926779
284TMEM12720.99581589958159371796930967, 96931071-96931072
285RANBP220.966304909560723269675109336129-109336130, 109345588-109345601, 109347853-109347871, 109347923-109347930, 109352142, 109352188, 109357110-109357116, 109367868-109367897, 109368046-109368052, 109369454-109369488, 109370360, 109374869-109374872, 109378557-109378558, 109378619-109378628, 109382638, 109382700-109382706, 109382943, 109383052-109383058, 109383137-109383177, 109383286, 109383298, 109383354-109383361, 109383575-109383583, 109383753-109383794, 109384167, 109384505-109384529, 109384564, 109384628-109384667
286MERTK20.9973333333333383000112656321-112656322, 112656331-112656336
287GLI220.99705944129385144761121708961-121708966, 121746243-121746249, 121747671
288PROC20.9942279942279981386128180707-128180714
289CFC120.8824404761904879672131280363-131280392, 131280438, 131280742-131280762, 131280791-131280816, 131285309
290NEB20.998247722038653519974152432786-152432807, 152432830-152432842
291SCN2A20.9998338318378216018166245230
292SCN1A20.998665999666585997166848487, 166848838-166848844
293HOXD1320.9912790697674491032176957679-176957684, 176957711-176957713
294AGPS20.9994941831057211977178257648
295TTN20.999950123693245100248179417732-179417733, 179435905, 179437370, 179644035
296COL3A120.998636673483364401189872615-189872620
297COL5A220.9997777777777814500189932805
298DES20.9964614295824551413220283233-220283237
299OBSL120.98945703742752605691220435647-220435689, 220435767-220435774, 220435917-220435925
300AGXT20.9940627650551371179241810100-241810106
301D2HGDH20.9463601532567841566242674743-242674745, 242695412-242695418, 242707125-242707130, 242707306-242707350, 242707362-242707384
302AVP200.95959595959596204953063287-3063291, 3063392, 3063395-3063403, 3063407-3063408, 3063638-3063640
303PANK2200.99766491535318417133870193-3870196
304SNTA1200.93280632411067102151832031179-32031182, 32031224-32031231, 32031254-32031263, 32031288-32031339, 32031356-32031357, 32031376-32031401
305HNF4A200.999298245614041142543052732
306CTSA200.9859719438877821149744520238-44520254, 44526373-44526376
307GNAS200.9682080924855599311457429072-57429076, 57429195-57429213, 57429258-57429269, 57429660-57429687, 57429694-57429714, 57429823-57429828, 57430082-57430089
308COL9A3200.92554744525547153205561448417-61448458, 61448466, 61448482-61448494, 61448924-61448974, 61453151, 61455820, 61456359-61456373, 61457589-61457598, 61457609, 61461901-61461914, 61464413-61464416
309CHRNA4200.397558386411891135188461978110, 61978114, 61978120, 61978156, 61978177-61978179, 61978182-61978185, 61981030-61981092, 61981101-61981141, 61981159-61981302, 61981316-61981364, 61981375-61981486, 61981526-61981527, 61981536, 61981554, 61981561, 61981577-61981713, 61981745-61981764, 61981862-61981904, 61981949-61981958, 61981976-61982001, 61982032-61982050, 61982057-61982090, 61982112-61982127, 61982162, 61982236, 61982248-61982250, 61982306-61982315, 61982370-61982376, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
310KCNQ2200.70294005345552778261962037997-62038001, 62038004-62038062, 62038185, 62038217-62038239, 62038335-62038377, 62038402-62038448, 62038538-62038554, 62038572, 62038613-62038633, 62046272-62046275, 62046380, 62069978-62069995, 62070032-62070039, 62070967-62070973, 62073759-62073790, 62073806, 62073810-62073811, 62073814-62073816, 62073845-62073848, 62076020-62076060, 62076068-62076091, 62076126-62076170, 62076607-62076611, 62076616, 62076637-62076688, 62076708, 62076711, 62078109-62078114, 62078122-62078127, 62078169, 62078174, 62078178, 62103521-62103816
311SOX18200.48744588744589592115562679555-62679559, 62679578-62679579, 62679583-62679585, 62679746, 62679754, 62679836-62679851, 62679891-62679930, 62679941-62679964, 62680019-62680031, 62680034, 62680037-62680066, 62680072-62680103, 62680109, 62680166-62680213, 62680243-62680257, 62680285, 62680290, 62680512-62680869
312IFNGR2210.9635108481262337101434775850-34775857, 34775859, 34775863, 34775876-34775877, 34775891-34775892, 34775897-34775919
313RCAN1210.935441370223984975935987178-35987201, 35987241-35987264, 35987267
314CLDN14210.980555555555561472037833522, 37833559-37833571
315AIRE210.63125763125763604163845705890-45705941, 45705963-45706005, 45706495, 45706501-45706519, 45706531, 45706534-45706536, 45706542, 45706585, 45706884-45706886, 45706889, 45706946-45706953, 45706980-45706985, 45707004-45707013, 45707411, 45707470-45707474, 45708228-45708237, 45708289, 45709607-45709613, 45709631-45709673, 45709900-45709917, 45709948-45709951, 45712214, 45712257-45712264, 45712283-45712284, 45712889-45712890, 45712897, 45712900, 45712907, 45712940-45713014, 45713046-45713053, 45713675-45713723, 45713745-45713764, 45713772, 45713780, 45714284-45714386, 45716266-45716328, 45717550, 45717568-45717596
316ITGB2210.9939393939393914231046308613-46308616, 46308712-46308717, 46308788-46308791
317COL18A1210.709021842355181532526546876544-46876573, 46876579-46876580, 46876615-46876617, 46876620, 46876648-46876662, 46876682-46876699, 46888228-46888231, 46888239-46888243, 46888246, 46888332, 46888342, 46888346, 46888527-46888536, 46888630-46888652, 46906775-46906800, 46906829-46906885, 46907361-46907362, 46907371, 46907404, 46907407, 46907418-46907423, 46908355, 46909400-46909407, 46909422-46909427, 46910189-46910225, 46910233-46910260, 46910750-46910759, 46910765-46910771, 46911139-46911228, 46912449-46912463, 46912601-46912627, 46913077-46913139, 46913415-46913446, 46913454-46913489, 46914459-46914485, 46914776-46914819, 46915280-46915325, 46915339-46915346, 46916421-46916457, 46916469-46916482, 46916964-46916994, 46917513-46917553, 46917566-46917575, 46923925-46923960, 46924330-46924332, 46924356-46924361, 46924381-46924470, 46925048-46925124, 46925137-46925192, 46925272-46925340, 46925752-46925880, 46927475-46927501, 46929275, 46929288-46929289, 46929292, 46929343, 46929391, 46929401-46929404, 46929504-46929505, 46929509-46929515, 46929978-46929979, 46929994-46929997, 46930011-46930036, 46930042, 46930061-46930062, 46930115-46930131, 46930157-46930175, 46931029-46931080, 46931109, 46931115-46931123, 46932102-46932103, 46932112-46932115, 46932129, 46932140, 46932145-46932147, 46932150-46932165, 46932182, 46932186, 46932199, 46932216-46932221, 46932249-46932255, 46932267-46932283
318COL6A1210.79850988014253622308747401765-47401861, 47402548-47402586, 47402596-47402622, 47402628-47402671, 47404183-47404203, 47404219-47404266, 47404284-47404289, 47404352-47404371, 47406505-47406541, 47406560-47406599, 47406858-47406885, 47406919-47406921, 47406933-47406939, 47406962-47406986, 47407415-47407433, 47407533-47407568, 47409007-47409019, 47409666-47409692, 47410172-47410177, 47410292-47410315, 47410321, 47410687-47410694, 47412118-47412124, 47414090-47414101, 47414106, 47414134-47414139, 47417349, 47417614-47417616, 47417661, 47417664-47417673, 47418035-47418036, 47423507, 47423655, 47423720
319COL6A2210.71241830065359880306047531391-47531393, 47531431-47531493, 47531893-47531898, 47531959, 47531987-47532022, 47532146-47532147, 47532249, 47532280-47532284, 47532287, 47532720, 47532723, 47535930-47535937, 47536291-47536298, 47536565-47536591, 47536692, 47536722, 47537321-47537323, 47538528-47538532, 47538550-47538574, 47538995, 47539720-47539733, 47539752-47539764, 47540438, 47540442-47540449, 47540480-47540482, 47540986-47541031, 47541481-47541487, 47541492-47541501, 47541507-47541508, 47542022-47542058, 47542066-47542072, 47542410-47542417, 47542433, 47542813, 47544805-47544829, 47545186-47545193, 47545383, 47545465-47545466, 47545709, 47545715-47545721, 47545758-47545785, 47545874-47545880, 47545923-47545929, 47545975-47545976, 47545982, 47545991, 47546037-47546049, 47546054, 47546118-47546148, 47546448-47546450, 47551868-47551877, 47551887-47551923, 47551935, 47551944-47551965, 47551992-47552084, 47552096-47552173, 47552202-47552222, 47552225, 47552243-47552256, 47552277-47552283, 47552300-47552314, 47552336-47552419, 47552443-47552444
320COL6A2210.476608187134517934247552202-47552222, 47552225, 47552243-47552256, 47552277-47552283, 47552300-47552314, 47552336-47552419, 47552443-47552444, 47552467-47552468, 47552486-47552515, 47552522-47552524
321FTCD210.144526445264451391162647556901, 47556904-47556918, 47556946-47556967, 47557157-47557181, 47557208-47557235, 47558422, 47558431, 47558434, 47558469-47558514, 47558520-47558545, 47558552, 47558559-47558560, 47558794-47558811, 47558826-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570098, 47570105-47570164, 47570302-47570379, 47570406-47570439, 47571472-47571578, 47571595-47571645, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575416, 47575428-47575434
322PRODH220.89462007764836190180318905879-18905902, 18907252, 18908917, 18908921-18908927, 18918692-18918695, 18923528-18923606, 18923610, 18923629-18923655, 18923659-18923673, 18923709-18923710, 18923713-18923715, 18923745, 18923748, 18923777-18923800
323GP1BB220.1336553945249653862119711094-19711102, 19711377-19711438, 19711462-19711501, 19711509-19711533, 19711553-19711555, 19711572-19711932, 19711948-19711985
324TBX1220.7385752688172389148819748428-19748599, 19748619-19748655, 19748671, 19748687-19748689, 19753456-19753462, 19753495-19753511, 19753912-19754012, 19754031, 19754048, 19754071-19754075, 19754086-19754096, 19754102-19754113, 19754289-19754294, 19754315-19754316, 19754322, 19754333-19754337, 19754345-19754351
325CHEK2220.9619534355479867176129083927-29083965, 29085158-29085171, 29090020-29090024, 29126411-29126419
326MYH9220.999490056093833588336689419-36689421
327TRIOBP220.9860524091293399709838119856-38119905, 38120176-38120178, 38122099, 38122501-38122509, 38130420-38130426, 38130532, 38130576-38130582, 38130946-38130957, 38131033-38131036, 38153930-38153934
328SOX10220.999286224125621140138379545
329PLA2G6220.5889570552147220148938508274-38508299, 38508511-38508584, 38509499, 38509522-38509555, 38509567-38509569, 38509577, 38509591-38509632, 38509774, 38509799-38509806, 38509814, 38509833-38509841, 38509851
330PLA2G6220.83064849235853410242138508184-38508186, 38508195-38508223, 38508238-38508244, 38508264-38508299, 38508511-38508584, 38509499, 38509522-38509555, 38509567-38509569, 38509577, 38509591-38509632, 38511552, 38511555-38511576, 38511637-38511647, 38511656-38511688, 38512082, 38512099, 38512106-38512108, 38512141-38512142, 38512206-38512208, 38516880-38516892, 38516898-38516899, 38519108-38519174, 38519210-38519220, 38519261-38519265, 38528902-38528906
331TNFRSF13C220.5351351351351425855542322105-42322110, 42322147-42322160, 42322167-42322182, 42322189-42322190, 42322193, 42322201, 42322204-42322286, 42322288, 42322295, 42322299-42322327, 42322334-42322335, 42322652-42322684, 42322693-42322748, 42322751-42322753, 42322768-42322777
332CYB5R3220.981236203090511790643045301-43045311, 43045316-43045321
333TRMU220.997630331753553126646731724-46731726
334ALG12220.993865030674859146750301575-50301577, 50303625, 50303688-50303689, 50304106, 50307290, 50307375
335MLC1220.9797178130511523113450502463-50502474, 50502593-50502598, 50502607-50502611
336SCO2220.99875156054931180150962830
337TYMP220.64182194616977519144950964199-50964218, 50964229-50964272, 50964284-50964310, 50964324-50964347, 50964430-50964549, 50964561-50964562, 50964565, 50964675-50964707, 50964722, 50964724-50964730, 50964752-50964770, 50964795-50964806, 50964818, 50964832-50964833, 50964840-50964850, 50964853-50964856, 50964862-50964879, 50964885-50964905, 50965005-50965035, 50965056-50965155, 50967616, 50967678, 50967747-50967751, 50967988-50967993, 50968118-50968125
338ARSA220.9783464566929133152451063709, 51063759-51063777, 51063825, 51063832, 51064391-51064396, 51065377-51065381
339SHANK3220.710144927536231520524451113070-51113132, 51113476-51113557, 51113567-51113569, 51113581-51113679, 51115076, 51115079, 51115091, 51115108-51115121, 51117023-51117062, 51117077, 51117086-51117088, 51117096-51117121, 51117197-51117284, 51117299-51117347, 51117447-51117455, 51117461-51117614, 51117740-51117742, 51117749-51117752, 51117755-51117757, 51117761-51117767, 51117778, 51117793-51117797, 51117824-51117831, 51117840-51117856, 51121768-51121845, 51123013-51123079, 51133273, 51133287, 51133332, 51133351-51133379, 51135671-51135719, 51135951-51136143, 51137190-51137191, 51137219, 51137225-51137227, 51143247, 51158654-51158660, 51158760-51158777, 51158800-51158812, 51158828-51158858, 51158863, 51158866, 51158876-51158901, 51158911-51158914, 51158917-51158934, 51158947-51158985, 51158992-51159012, 51159018-51159039, 51159059, 51159062-51159077, 51159135-51159162, 51159186-51159202, 51159226-51159227, 51159230-51159237, 51159276-51159277, 51159286-51159287, 51159292-51159310, 51159323, 51159326-51159328, 51159333, 51159415, 51159418, 51159424-51159465, 51159930, 51169207, 51169223, 51169425, 51169524-51169530, 51169569-51169576, 51169607-51169610, 51169638-51169666, 51169704-51169718
340FANCD230.9873188405797156441610088264-10088311, 10088340-10088346, 10114944
341VHL30.98909657320872764210183796-10183802
342CRTAP30.9917081260364810120633155956-33155962, 33174152, 33174156-33174157
343TMIE30.875816993464055745946742860-46742880, 46742955-46742961, 46743005-46743033
344TMIE30.932059447983013247146743005-46743033, 46751074-46751076
345TREX130.991891891891899111048508106-48508110, 48508681-48508683, 48508687
346COL7A130.999547255234864883548627107, 48627145-48627147
347SLC25A2030.99889624724062190648936194
348LAMB230.9975912544005913539749160272, 49162463-49162470, 49162473-49162475, 49169121
349TKT30.9946581196581210187253289864, 53289921-53289929
350ATXN730.9369274136716179283863898284, 63898290-63898291, 63898320-63898322, 63898360-63898369, 63898375-63898387, 63898414-63898420, 63898427-63898569
351PROK230.97692307692308939071834151-71834159
352ARL13B30.9782439782439828128793761953, 93762006-93762021, 93762033-93762042, 93762079
353UMPS30.99237699237699111443124456653-124456663
354NPHP330.972201352366641113993132431987-132431998, 132435679-132435680, 132438549-132438567, 132438577-132438592, 132438631-132438648, 132440844-132440853, 132440991-132441007, 132441032, 132441040, 132441044, 132441077-132441089, 132441140
355FOXL230.96816976127321361131138664810, 138664838-138664841, 138664869-138664899
356GFM130.99468085106383122256158399892-158399903
357CLCN230.99035965888024262697184070101-184070107, 184071889-184071895, 184072100-184072102, 184072336-184072340, 184075046-184075049
358PDE6B40.98167641325536472565647641-647657, 647902-647908, 647926, 648628-648629, 648643, 649751-649761, 651152, 651254-651256, 652779-652782
359IDUA40.4566768603465910661962980876-980981, 980988-981030, 981612-981653, 981673-981681, 981684-981685, 981701-981704, 981707-981732, 994414, 994452-994470, 994721-994727, 994752-994777, 995288-995289, 995474-995478, 995493, 995503-995508, 995520-995551, 995576-995598, 995626-995643, 995770-995824, 995891-995901, 995914, 995919, 995928-995932, 995949, 996059-996062, 996065-996074, 996108-996114, 996157-996191, 996199-996273, 996525-996534, 996543-996732, 996824-996945, 997133-997187, 997203-997204, 997240-997247, 997258, 997337-997372, 997395, 997402, 997817-997841, 997890-997900, 998048-998070, 998090, 998130-998132
360FGFR340.9060568603213822824271795662-1795752, 1795761, 1800981-1800998, 1801131, 1803119, 1803143-1803145, 1803211-1803220, 1803347-1803353, 1803414-1803415, 1803459-1803461, 1803468-1803470, 1803625-1803632, 1803694, 1803747-1803752, 1806644-1806653, 1806656, 1807138, 1807384-1807385, 1807485, 1807533, 1807537-1807539, 1807887, 1808556-1808576, 1808598, 1808653, 1808659, 1808897-1808913, 1808942, 1808967-1808977
361SH3BP240.992999461497041318572819966-2819971, 2820031-2820037
362HTT40.9804857354968718494293076553-3076557, 3076602-3076603, 3076604-3076701, 3076712-3076721, 3076741, 3076753-3076801, 3240548-3240557, 3240625-3240628, 3241753-3241757
363DOK740.7280528052805341215153465118-3465128, 3465145-3465156, 3465234-3465271, 3465278, 3475133-3475138, 3475148, 3475151, 3475158-3475163, 3475238, 3475280-3475287, 3478069-3478080, 3478194-3478204, 3478226, 3494574-3494593, 3494597-3494600, 3494619-3494696, 3494727-3494747, 3494763-3494806, 3494826, 3494832-3494842, 3494845-3494847, 3494873-3494880, 3494913-3494917, 3495026-3495061, 3495077-3495088, 3495111-3495130, 3495145-3495184
364DOK740.604060913705582345913494574-3494593, 3494597-3494600, 3494619-3494696, 3494727-3494747, 3494763-3494806, 3494826, 3494832-3494842, 3494845-3494847, 3494873-3494880, 3494913-3494917, 3495026-3495061, 3495077-3495079
365MSX140.9989035087719319124861627
366EVC40.99060087277612829795713114-5713116, 5713187-5713211
367CNGA140.999561403508771228047954689
368CDS140.99783549783553138685504611, 85569772-85569773
369PKD240.96284829721362108290788928886-88928913, 88928924-88928930, 88928951-88928953, 88928981-88928982, 88929001-88929063, 88929076, 88929110-88929113
370MTTP40.9996275605214212685100530009
371CISD240.965686274509814408103808511-103808522, 103808572, 103808587
372CFI40.9994292237442911752110723116
373MFSD840.9781631342325341557128859960-128859993
374GLRB40.98795180722892181494158041708-158041725
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376SLC25A440.994425863991085897186064590-186064593, 186064596
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479RECQL480.465674110835419383627145736814-145736890, 145736920-145736938, 145737064-145737172, 145737294-145737316, 145737346-145737443, 145737527-145737566, 145737568-145737654, 145737681-145737698, 145737775-145737922, 145737933-145737944, 145738025-145738082, 145738090-145738103, 145738120-145738154, 145738230-145738521, 145738613-145738768, 145738770-145738843, 145738849-145738864, 145738955-145738966, 145738977-145739027, 145739051-145739096, 145739326-145739338, 145739367-145739373, 145739390, 145739394-145739441, 145739573-145739584, 145739609, 145739676-145739683, 145739710, 145739846-145739863, 145739894, 145739904-145739909, 145740380-145740383, 145740442-145740443, 145741375-145741380, 145741440-145741474, 145741504, 145741518, 145741521, 145741527-145741534, 145741629-145741634, 145741652-145741654, 145741723-145741726, 145741732-145741735, 145741757, 145741765, 145741790, 145741946-145741947, 145741958-145742033, 145742093-145742117, 145742127-145742148, 145742434-145742436, 145742476, 145742481-145742491, 145742497, 145742512-145742550, 145742569-145742571, 145742798-145742850, 145742867-145742875, 145742879, 145742986-145743019, 145743085-145743137, 145743143-145743168
480DOCK890.99047619047619606300332400-332444, 396796-396797, 396806-396815, 396871-396872, 407001
481VLDLR90.977498093058735926222622190-2622247, 2622262
482JAK290.9994115916446233995077512-5077513
483GLDC90.99640874959191130636645367-6645373, 6645379, 6645383, 6645387-6645388
484TRPM690.9981875102982411606977454959-77454969
485ROR290.9925847457627121283294712183-94712184, 94712209-94712227
486PTCH190.9949355432780822434498270551-98270572
487FOXE190.98930481283422121122100616324-100616325, 100616698-100616706, 100617141
488TGFBR190.99140211640212131512101867534-101867546
489DFNB3190.99632892804699102724117266931-117266940
490NR5A190.96248196248196521386127245168-127245173, 127255367, 127262517-127262520, 127262535-127262540, 127265358, 127265407-127265423, 127265488, 127265591-127265592, 127265597, 127265662-127265674
491LMX1B90.96425379803396401119129376823-129376835, 129376846-129376867, 129377675-129377679
492STXBP190.99227373068433141812130374706-130374719
493TSC190.9991416309012933495135782129-135782131
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495SURF190.9014396456256989903136220710, 136220713, 136223124-136223175, 136223281-136223315
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499COL5A190.960667029182532175517137534034-137534084, 137534089, 137534093-137534094, 137534097-137534130, 137582758-137582776, 137582820, 137582831, 137582869-137582883, 137591755, 137591853-137591855, 137591898, 137593040, 137593043-137593044, 137593089-137593132, 137642411-137642421, 137642700-137642728, 137645726
500LHX390.856906534325891731209139089175-139089190, 139089267, 139089276-139089282, 139089338-139089347, 139089542-139089556, 139090779-139090812, 139090882-139090905, 139094792-139094798, 139094805, 139094809-139094810, 139094821-139094876
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503AGPAT290.6594982078853285837139568204-139568248, 139568269-139568275, 139568330, 139571037-139571038, 139571085-139571089, 139571105-139571106, 139571416, 139571424-139571427, 139571431, 139571463-139571469, 139571530-139571533, 139571560, 139571578-139571588, 139571875, 139571935-139571945, 139581628-139581809
504SLC34A390.754501800140127033-140127063, 140127122, 140127144-140127149, 140127726-140127732, 140127841, 140128170-140128174, 140128320-140128378, 140128561-140128638, 140128677-140128717, 140128725-140128728, 140128879, 140128889-140128916, 140128945-140128961, 140128964, 140129132, 140129146, 140130404-140130408, 140130413-140130414, 140130417, 140130442-140130443, 140130468-140130509, 140130530, 140130546-140130586, 140130596, 140130599-140130606, 140130611, 140130682-140130683, 140130724-140130732, 140130783-140130835
505EHMT190.840646651270216213897140513481-140513501, 140605429-140605454, 140605475-140605482, 140611078-140611634, 140622894, 140622956, 140622967-140622971, 140669691, 140729341
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514CACNA1FX0.998651836872268593449067107-49067114
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533OPN1MWX0.9936073059360771095153492713-153492719
534FLNAX0.940206445115814757944153580620, 153581005-153581009, 153581502-153581504, 153581780-153581783, 153581787-153581788, 153582997, 153583025-153583026, 153583065-153583067, 153583334-153583341, 153583398, 153583401-153583402, 153585825-153585826, 153585836, 153585896-153585916, 153586567-153586576, 153587482-153587495, 153587627, 153587652-153587655, 153587910, 153587976-153587977, 153587995-153587999, 153588009, 153588119-153588122, 153588173-153588180, 153588240-153588244, 153588387, 153588390, 153588401-153588403, 153588407, 153588413, 153588417, 153588444, 153588458, 153588467-153588472, 153588475, 153588592-153588598, 153588637-153588656, 153588850-153588856, 153588900-153588915, 153589688-153589691, 153589807-153589815, 153589820, 153589924-153589933, 153590040, 153590130-153590141, 153590438-153590446, 153590624, 153590627, 153590630, 153590939-153590943, 153592412-153592413, 153592418-153592419, 153592440, 153592665, 153592669, 153592947-153592949, 153592971, 153592974, 153592981, 153593233-153593235, 153593238-153593240, 153593565, 153593582, 153593854, 153594407-153594411, 153594455-153594456, 153594459-153594460, 153594512-153594518, 153594948, 153595838, 153595841-153595843, 153596092-153596101, 153596210-153596243, 153596251, 153596284-153596301, 153596350, 153599256-153599257, 153599260, 153599263-153599264, 153599268-153599269, 153599282-153599298, 153599391-153599424, 153599453-153599480, 153599496-153599506, 153599516, 153599537-153599568, 153599578-153599582, 153599585
535EMDX0.9163398692810564765153607910, 153607922, 153608061, 153608070-153608082, 153608086-153608088, 153608096-153608103, 153608128-153608154, 153608674, 153609139, 153609145, 153609396, 153609402, 153609433-153609437
536TAZX0.9036755386565376789153640181-153640195, 153640240-153640255, 153640268, 153640278-153640279, 153640285, 153640445-153640483, 153640521, 153640550
537G6PDX0.999389499389511638153760619
538F8X0.9998582766439917056154158933
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
4FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
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
3COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-H688Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3APOE-C130Rhet unknown0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
2.5SCN9A-W1150Rhet unknown0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SCN9A-K655Rhet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
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-V4128Mhet unknownUnknown
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-I2313Vhet unknown0.981Unknown
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
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
2CFH-V62Ihomozygous0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2FANCA-T1328Ahomozygous0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2FANCA-S1088Fhomozygous0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2FANCA-G809Dhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2FANCA-P643Ahomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2FANCA-G501Shomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2FANCA-A412Vhomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2ATXN7-K264Rhomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
2ATXN7-V862Mhomozygous0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-I858Vhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-H215Rhomozygous0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PAX8-F329Lhet unknown0.020Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests
1.5APOA5-S19Whet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5FLG-R1987Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5FLG-S761Shifthet unknown0.008Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
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
1.125ATP6V0A4-M580Thet unknown0.098Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125MYO7A-R302Hhet unknown0.002Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.948 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
1KCP-D621Vhet unknownUnknown
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
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLXNA3-R350Qhomozygous0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.604 (possibly damaging)
1PKD2-R28Phomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1KCNH2-K897Thomozygous0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-N493Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC11-T546Mhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.275 (possibly damaging)
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LARGE-R665Hhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
1ZNF204P-K6ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1YIF1A-P37Lhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C12orf44-D85ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-H-D29Ahomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-P32Qhomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-E34MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SLC22A1-L160Fhomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M420Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-G465Rhet unknown0.019Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
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
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-E919Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1AKAP9-K921Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM6-TRIM34-D636Hhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C17orf77-C207*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P174Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
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-H273Qhomozygous0.481Unknown
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
1DPYD-I543Vhet unknown0.185Unknown
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
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.265Unknown
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-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
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-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
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-M99Vhet unknown0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknown0.086Unknown
pharmacogenetic
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-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-F238LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
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
1HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-T103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G102Rhomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-EV98DIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D89Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Q85LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N106ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-R198Shomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N202Hhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IPPK-L376Fhomozygous0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-R304*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1OCA2-R419Qhomozygous0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-D1111Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-H282RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1MST1P9-A271ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC74B-P201Shomozygous0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1CCDC74B-H149Rhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OXCT2-L285Rhomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OXCT2-D267Ghomozygous0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.672 (possibly damaging)
1OXCT2-F254ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KIF1B-Y1087Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-S631Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1NR_027242-N339Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-A221Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
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-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75PLEC-A3171Vhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75PLEC-R2969Hhomozygous0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75PLEC-S2791Phomozygous0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75PLEC-E716Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-R700Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
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
0.75ABCD1-V60Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCD1-A65Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ASPM-K2712Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCSH-V19Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AARS-T562Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5TAT-P15Shomozygous0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOB1-Y366Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-L605Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTBK2-L8Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-E140Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-M163Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
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
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NM_032802-N126Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RNF151-V66Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RNF151-H130Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5RNF151-I242Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SRRM2-P804Thet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRRM2-T856Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CES1-S12Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-R4Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.24 (possibly damaging)
0.5CX3CL1-A62Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5SPN-V269Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERCC4-R415Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TSR1-H750Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
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
0.5ZNF224-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-T177Mhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-T65Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-I111Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S116Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPANXN2-N24Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), 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
0.5CPAMD8-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
0.5UNC13A-L1121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A447Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IL12RB1-G378Rhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL12RB1-M365Thomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-Q214Rhomozygous0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-R156Hhomozygous0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.5IL12RB1-S74Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PAK4-R135Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.307 (possibly damaging)
0.5FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
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
0.5EIF2AK3-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
0.5VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5PEX13-L360Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-K421Rhet unknownUnknown
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-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), 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
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5MSH6-G39Ehet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-H1235Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-P496Lhet unknown0.016Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-N413Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGA2B-I874Shomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA2B-L147Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABI3-R44Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABI3-F209Shomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BZRAP1-G1830Ehet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.204 (possibly damaging)
0.5BZRAP1-H1728Rhomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BZRAP1-A1140Phomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-H1118Lhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.616 (possibly damaging)
0.5BZRAP1-W851Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-Q817Rhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-A586Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BZRAP1-Q514Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH2-Q65Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH2-P1500Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DNAH2-T3600Ihet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-T222Mhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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)
0.5KCNJ12-S15Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5KCNJ12-M71Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5KCNJ12-E430Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5SCN4A-N1376Dhomozygous0.602Unknown
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
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ALPK2-I2157Vhet unknown0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-H1174Phomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhomozygous0.684Unknown
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-T397Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5ALPK2-R136Shomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-R404Whet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-W414Rhet unknown0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-Y966Nhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-A2036Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-D1607Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-V825Mhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G632Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G626Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-M1Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA9-K1306Thomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ABCA9-N785Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5ABCA9-R353Hhomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COG1-Q301Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-N2815Khomozygous0.152Unknown
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
0.5TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-Q389Phet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPAP1-R582Ghomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5PITRM1-Q1037Rhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L883Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PITRM1-A397Vhomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L145Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PPYR1-A99Shet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-R240Chet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.332 (possibly damaging)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
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-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-M268Thomozygous0.561Unknown
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
0.5PRELP-N348Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USH2A-E3411Ahomozygous0.573Unknown
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-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF678-C351Yhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
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
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
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
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MRPL23-R11Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MRPL23-G32Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MICALCL-V70Ihomozygous0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-Y93Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5MICALCL-A305Thomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-S313Ghet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5MICALCL-D369Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.813 (possibly damaging)
0.5CCDC34-N298Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CCDC34-P53Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.5SLC6A5-F124Shomozygous0.799Unknown
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
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5SEC23IP-A241Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R745Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KAZALD1-G236Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging)
0.5KAZALD1-G255Ahomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-D1370Ghet unknown0.288Unknown
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
0.5CALHM2-P114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CALHM2-A96Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5CITED4-P158Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CITED4-E146Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A9-I269Mhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC5A9-G516Rhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5STIL-H985Rhomozygous0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A631Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5CROCC-R841Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-G845Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R918Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-LE1031RKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-E1037Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-P119Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5AGRN-E728Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5TNFRSF1B-M196Rhomozygous0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5CLCNKB-A214Ghomozygous0.638Unknown
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
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ACOT11-R20Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably 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
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5FMO3-E158Khomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPHS2-R229Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CTH-S403Ihomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG6-Y131Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5B3GALTL-G369Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5PROZ-R295Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.884 (probably damaging)
0.5IRS2-G1057Dhomozygous0.233Unknown
protective
Low clinical importance,
uncertain
a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).
0.5IRS2-D152Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDX55-V101Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5DDX55-N264Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shomozygous0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-Y319Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CINP-R164Hhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5CINP-N53Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TECPR2-V320Ihomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-I683Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-Q981Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5DISP2-P47Ahomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DISP2-C56Shomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5DISP2-Y375Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), 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
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R521Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC16-E486Khet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5TXNDC16-A180Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GRASP-G362Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging)
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM123-V86Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5DYNC2H1-Q304Lhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.5DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-A3687Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KDELC2-P144Lhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATM-P1054Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS37C-L198Shet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS37C-T8Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (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
0.5AIP-Q228Khomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5EXPH5-N1967Dhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-L853Phet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-S676Nhet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-V525Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-R328Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-R19Ghet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL10RA-R351Ghomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL10RA-S420Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
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-G1405Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5FAM186A-H2228Qhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-R2174*het unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM186A-H2166Yhet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-A1720Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM186A-L1506Phomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-L1233Phet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-R1204Ghet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-A465Ghomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-K463Thomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-K187Qhet unknown0.612Unknown
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)
0.5CDKN1B-V109Ghomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5HINFP-G450Ehet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5HINFP-A493Vhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
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-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-A141Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-C970Yhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
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
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RTP4-T79Ihet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.669 (possibly damaging)
0.5RTP4-D109Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5RTP4-C169Yhet unknown0.776Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.643Unknown
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
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5VWC2-A120Ghet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWC2-P148Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
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
0.5EVC-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-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEX15-S1909Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEX15-R1900Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F13A1-P565Lhomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-Y205Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC2A9-T275Mhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.893 (probably damaging), Testable gene in GeneTests
0.5SLC2A9-G25Rhomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AASDH-Y1030Dhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AASDH-T865Ahet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5AASDH-A705Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AASDH-K368Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AASDH-P93Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5AASDH-I61Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC3-R43Khomozygous0.286Unknown
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)
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMZP3-L187Shifthet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5POMZP3-V178Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMZP3-R176Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMZP3-L153Phet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-R109Whet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-P10Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-R492Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNOT10-Y541Fhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5IFNK-W13Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNK-K133Ehomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATR-R2425Qhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATR-V959Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATR-V316Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging)
0.5ATR-M211Thomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-D1312Ghomozygous0.456Unknown
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-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5SPATA16-M526Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPATA16-A509Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5SPATA16-G147Ehet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5SPATA16-M133Vhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA16-E78Khet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP11B2-V386Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-G286Ehet unknown0.023Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LNPEP-V359Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-L669Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), 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
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
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
0.5ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-T164Ihet unknown0.011Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STEAP4-R318Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5STEAP4-G75Dhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN2-M2311Vhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SAMD9L-G1137Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC111-V102Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CCDC111-Q168Rhomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-H286Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
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
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-N159Shomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-M597Vhomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (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-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR3-L412Fhomozygous0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EMB-S39Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MOCS2-T50Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-A142Thomozygous0.239Unknown
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
0.5SDHA-*109Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIP6-R111Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.461Unknown
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-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL4-L507Rhomozygous0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5SAG-I76Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
0.5SAG-V403Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A2643Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-K1754Rhet unknownUnknown
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
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOGAT1-A280Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCHR2-R152Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5FARP2-R17Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
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-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYLK2-P144Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FANCB-G335Ehet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhet unknown0.602Unknown
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
0.5LRP2-N2632Dhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5LRP2-G669Dhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEFB128-H62Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB128-K27Nhomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX58-R71Hhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5LAMA4-G1117Shet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-Y498Hhomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-A283Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-R154Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5PGAM4-R86Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ITIH5L-W1041Shet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), 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
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
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-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-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-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC38A5-M451Thet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ALS2CR11-C1039Ghomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2CR11-R473Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALS2CR11-P460Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ALS2CR11-H376Qhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
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
0.5DSE-T25Ihet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DSE-P34Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5OTC-Q270Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CRYGD-Y56*het unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_027444-W159Shifthet 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
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-L438Vhomozygous0.375Unknown
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
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUT-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
0.5NEB-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-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
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
0.5BAAT-V304Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCH1-P1315Lhet unknown0.296Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PTCH1-T1195Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH9-V261Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUMF1-S63Nhomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-L1488Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5PNPLA3-I148Mhomozygous0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM6-K1584Ehomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.5TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.5EXOSC3-Y225Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5EXOSC3-K124Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SETX-I2587Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahomozygous0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-P1464Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP1B-V4264Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.412Unknown
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-A440Thet unknown0.182Unknown
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
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-Q448Ehomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-P618Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5SARDH-M648Vhomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SARDH-R614Hhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-P301Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-A548Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNAPC4-H799Qhomozygous0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNAPC4-D40Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-P17Lhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5DNAH11-E34Lhet unknown0.368Unknown
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-T1038Ahomozygous0.816Unknown
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-N2641Shet unknown0.529Unknown
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-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
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
0.5COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-Q18QLQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375RECQL4-CF636WIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RECQL4-E267Dhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GSTP1-I105Vhet unknown0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.375ATXN3-G306QQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25ERV3-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-C189Yhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25INTS1-L741Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25INTS1-W735Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GTF2IRD2P1-R561*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GTF2IRD2P1-A487Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-V397Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-T376Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-C30Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C10orf92-S2266GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf92-Q583Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBP7-L416Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBP7-T14Ihomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
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
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEMA6C-N924Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SEMA6C-T455Phomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25XIAP-Q423Phet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25UBA1-R447Hhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AKR7L-A254Thet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-F235Lhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-K207Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AKR7L-A11Thet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EXTL1-W313*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25EXTL1-H379Nhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.952 (probably damaging)
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSPG2-S4331Nhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-V3729Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25NR_001296-Q56Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-Q56Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-I103Thomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_001296-N182KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25PNLIPRP1-W270*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PNLIPRP1-L461Phet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25STEAP2-F17Chet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STEAP2-R456Qhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STEAP2-K462*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25STEAP2-M475Ihomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25PXDNL-D1452Ehet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PXDNL-R1399Khet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PXDNL-M981Vhet unknown0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PXDNL-I343Thet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.418 (possibly damaging)
0.25PXDNL-F12Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EPPK1-DDR2213MDShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-M2211Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPPK1-L2081Vhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DGAT1-Q465Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DGAT1-T248Nhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.074 (benign)
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRODH-R521Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCN2-L253Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCN2-R259Phomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASKIN2-E891Ghomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASKIN2-S557Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CASKIN2-AQ547NHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UBE2O-G1207Shomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UBE2O-H1018Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R2212Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
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
0.25PCNT-A2903Thet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.085 (benign), Testable gene in GeneTests
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-W1377Rhet unknown0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH15-R1350Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF469-S357Phet unknown0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF469-E3630Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF469-T3636Ahomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC48-A364Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC48-RA441GGRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC48-RA441GGRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25COL18A1-A288Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.25COL18A1-H1554Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ANAPC1-G1508Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANAPC1-GP1282Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (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
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-T400Khet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25KCNQ2-N780Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A3-A435Ehet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25ISG15-S83Nhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.25ISG15-T101Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25AK304151-S34Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-F47Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-V52Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCOR2-S1857Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NCOR2-G1847SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EXOSC6-L219Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EXOSC6-V218Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EXOSC6-P217Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S401Ghet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1748Fhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q571Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PEX6-P939Qhet unknown0.430Unknown
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
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25E4F1-L100Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25E4F1-E103Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
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
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AGBL1-Q1010Rhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AGBL1-R1028*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-T137Ihet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A1-R147Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), 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
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC6A19-V252Ihet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANK2-V2369Ahet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25LOXL1-R141Lhet unknown0.256Complex/Other
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0MLC1-L272*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,739,831,717 bases (96.7% of callable positions, 90.6% of total positions)

Coding region coverage: 32,186,099 bases (96.9% of all genes, 97.6% 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

Gene search

"GENE" or "GENE A123C":

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