hu66D0AA - GET-Evidence variant report

Variant report for hu66D0AA

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
2SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
3NOD2-G908RLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0106897This variant is associated with an increased susceptibility to Crohn's disease and other inflammatory bowel diseases (IBD). Assuming an overall prevalence of 0.5% for IBD, this variant implies an increased attributable risk of 2% (5x increased risk, for an overall risk of 2.5% of IBD for people with this variant).1
4KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).1
5rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
6MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
7WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
8TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
9RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
10SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
11MPO-M251TLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0091095A single sporadic observation implicated this variant in causing myeloperoxidase (MPO) deficiency in a recessive manner, but lacks any statistical significance. MPO deficiency generally causes no symptoms, but there are reports of associations with some cancers.1
12HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
13ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
14TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
15FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
16CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
17PRNP-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
18KCNJ11-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
19ARSA-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
20CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
21EFHC1-R182HLowLikelyLikely benign

Unknown, Homozygous
0.0439673Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.1
22HTRA2-A141SLowLikelyLikely benign

Unknown, Heterozygous
0.016814Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease.1
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
24OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
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
25FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
26RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
27DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
28COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.1
29PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
30DSPP-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
31CASP8-M1TLowUncertainUncertain benign

Unknown, Heterozygous
0.0310451Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
34PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
35SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
36RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
37TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30979829 / 33282720 = 93.08%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.279244053437644246138955553-955753, 957597-957649, 957655-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976991, 977027, 977030, 977048-977082, 977336-977338, 977371-977456, 977466-977522, 977526, 977528, 977532-977542, 978619-978697, 978705-978837, 978918-978944, 978963-979040, 979047-979112, 979203-979204, 979236-979268, 979300-979306, 979314-979403, 979489-979499, 979511, 979532-979534, 979538, 979543-979544, 979555-979557, 979573-979629, 979637, 979722-979736, 979777-979788, 979817-979819, 980541-980551, 980589-980622, 980649-980657, 980747, 980758-980834, 980848-980857, 980870-980872, 980879-980892, 981113-981175, 981188-981190, 981217-981228, 981242-981245, 981247-981256, 981344, 981359-981361, 981378-981401, 981446, 981461-981468, 981540-981561, 981570-981645, 981777-981996, 982010-982055, 982080, 982200-982312, 982332-982337, 982707-982782, 982802-982834, 982953-982986, 982994, 983012-983031, 983038, 983048-983050, 983065-983067, 983156-983253, 983272-983275, 983392-983451, 983463-983745, 984247-984268, 984278-984439, 984616-984749, 984759-984806, 984818-984831, 984946-984962, 985039, 985045, 985105-985106, 985112, 985138-985175, 985297-985315, 985326-985351, 985369-985380, 985412-985414, 985623-985668, 985678, 985691-985696, 985807-985823, 985839, 985853-985855, 985875-985880, 985908, 985943, 986106-986128, 986137-986217, 986633-986749, 986833-986917, 986943-987007, 987016-987025, 987108-987114, 987119, 987122, 987135, 987138, 987149, 987151-987169, 987191-987195, 989136, 989195-989201, 989212-989225, 989228, 989235, 989245, 989828-989829, 989877-989913, 990204-990239, 990242-990271, 990279-990280, 990284, 990297, 990320, 990345-990361
2GABRD10.086092715231788124213591950863-1950930, 1956381-1956396, 1956409-1956429, 1956434, 1956439-1956443, 1956454-1956478, 1956492-1956493, 1956773-1956840, 1956957-1957135, 1957146-1957177, 1959016-1959092, 1959098, 1959594-1959653, 1959676-1959731, 1960550-1960705, 1960990-1961093, 1961110, 1961123-1961201, 1961422-1961686, 1961696-1961721
3PEX1010.434250764525995559812337205-2337213, 2337259-2337264, 2337268-2337272, 2337923-2338005, 2338021-2338055, 2338159-2338220, 2338234-2338240, 2338263-2338276, 2338302-2338303, 2338332-2338334, 2339985-2340042, 2340103-2340124, 2340139-2340161, 2340167-2340220, 2340224, 2340268-2340297, 2341862-2341890, 2343830-2343941
4NPHP410.9315580471852429342815924418-5924458, 5924499, 5927107-5927115, 5927121-5927123, 5935058-5935079, 5935156, 5935159, 5947398-5947402, 5947412-5947413, 5947434, 5947455-5947476, 5947504, 5950946-5950948, 6029166-6029172, 6038330-6038473, 6046222-6046241, 6046275-6046277, 6046295-6046301
5ESPN10.7742690058479557925656485016-6485189, 6485214-6485242, 6485253-6485309, 6488300-6488346, 6488374-6488392, 6488426-6488432, 6488452-6488479, 6500379-6500437, 6500454-6500488, 6500686, 6500748-6500803, 6500837-6500868, 6501059-6501065, 6505849-6505863, 6505891, 6505900-6505902, 6505917, 6508709-6508713, 6508872, 6508885, 6512130
6PLEKHG510.979303857008476631896529179-6529212, 6529406-6529408, 6530824-6530825, 6534556-6534559, 6535170, 6535536-6535544, 6556621-6556629, 6557380-6557383
7KIF1B10.9968003011481317531310357035-10357041, 10381895-10381899, 10425224, 10435387-10435390
8PEX1410.9603174603174645113410684441-10684444, 10689661, 10689674-10689679, 10689733, 10689860, 10689863-10689865, 10689959-10689982, 10690040-10690044
9TARDBP10.9365461847389679124511082322-11082362, 11082599-11082636
10MASP210.61232411450752799206111087240-11087243, 11090233-11090234, 11090819, 11090825-11090826, 11090840, 11094885-11094891, 11094894, 11097837, 11097860-11097861, 11097867-11097868, 11102960-11103025, 11103033-11103079, 11103396-11103414, 11103433-11103592, 11105465-11105596, 11106613-11106732, 11106738-11106780, 11106783-11106790, 11106966-11106983, 11106991, 11106998-11107022, 11107032, 11107046-11107176, 11107260-11107264
11MTHFR10.997970573313044197111853989-11853992
12PLOD110.9583333333333391218411994859-11994901, 12014926, 12023675-12023687, 12024839, 12025630-12025637, 12026368-12026373, 12030751-12030764, 12030862, 12030871-12030873, 12034845
13MFN210.9920844327176818227412049328-12049344, 12067306
14CLCNKA10.6671511627907687206416350409-16350412, 16351275, 16352648-16352669, 16353041-16353057, 16353221-16353261, 16353832-16353835, 16353876-16353914, 16354366-16354397, 16354586-16354601, 16355290-16355302, 16355339-16355340, 16355646-16355649, 16355675-16355715, 16355738-16355745, 16356269-16356295, 16356475-16356477, 16356486, 16356497, 16356522, 16356524-16356538, 16356563-16356567, 16356982-16357016, 16357030-16357125, 16357132-16357169, 16358207-16358228, 16358252-16358302, 16358318-16358320, 16358698-16358711, 16358734-16358748, 16358756-16358765, 16358770-16358775, 16358938-16358956, 16358974, 16359015-16359019, 16359673-16359733, 16360106-16360111, 16360141-16360144, 16360150-16360153
15CLCNKB10.74273255813953531206416371056, 16372142-16372151, 16373040-16373050, 16374526, 16375049-16375064, 16375653-16375657, 16376113-16376115, 16377412-16377437, 16377461-16377520, 16377999-16378000, 16378228-16378246, 16378263, 16378280-16378294, 16378693-16378710, 16378721-16378871, 16378881-16378906, 16380134-16380137, 16380150-16380163, 16380182-16380191, 16380196, 16380222-16380267, 16381930-16381942, 16381969, 16381981-16382018, 16382200-16382201, 16382222-16382235, 16382965-16382978, 16383403-16383411
16ATP13A210.91701947502117294354317312767-17312778, 17312797-17312819, 17313000-17313002, 17313051-17313054, 17313343, 17313591-17313623, 17313626, 17313670-17313672, 17314942, 17314947-17314948, 17318295-17318322, 17318582-17318589, 17318790-17318798, 17322494-17322529, 17322584-17322602, 17322626-17322659, 17323519-17323557, 17323634, 17326506-17326513, 17326549-17326575, 17327015, 17327019
17ALDH4A110.998226950354613169219208369-19208370, 19216513
18PINK110.9667812142038958174620960042-20960051, 20960163, 20960248-20960260, 20960354-20960387
19ALPL10.995555555555567157521887194, 21896863-21896867, 21903908
20HSPG210.937537947783858231317622149855-22149901, 22149924-22149932, 22149935, 22149966-22149967, 22149969-22149970, 22149981, 22150131-22150157, 22150160, 22150175-22150190, 22150687-22150694, 22150816-22150827, 22150858-22150869, 22151054-22151062, 22151197-22151230, 22151270-22151272, 22154402-22154409, 22154531, 22154544, 22154572-22154576, 22154580-22154585, 22154635-22154642, 22154784, 22155332-22155355, 22155494-22155521, 22155527-22155533, 22155540-22155546, 22155925, 22155968-22156011, 22156096-22156097, 22156521-22156533, 22156544, 22156547, 22156571-22156577, 22165430-22165449, 22165901, 22165904, 22167662, 22168049-22168083, 22169895, 22169898, 22170703, 22170708, 22172636-22172642, 22172712-22172748, 22173903, 22173939, 22173944-22173947, 22174572, 22175136-22175143, 22175392-22175394, 22175410-22175420, 22175425, 22175467, 22176534-22176553, 22176576-22176582, 22176645-22176648, 22176876, 22176941-22176948, 22176956-22176959, 22178069-22178070, 22178401-22178406, 22178689-22178690, 22179314, 22181419, 22182048-22182049, 22186336-22186344, 22186434, 22186447, 22186451-22186471, 22186711-22186715, 22191443-22191457, 22191510, 22192259-22192268, 22199139-22199154, 22199494-22199539, 22200420, 22202130-22202132, 22206868, 22206929, 22207001, 22207034, 22207254-22207267, 22211100-22211147, 22217107-22217127, 22263648-22263710
21WNT410.88162878787879125105622456116-22456129, 22456185, 22456188-22456190, 22456199, 22456287, 22456317-22456344, 22469339-22469415
22RPL1110.975791433891991353724019219-24019228, 24019238, 24020368, 24021244
23HMGCL10.979550102249492097824134724-24134725, 24151878-24151895
24FUCA110.80014275517488280140124186383-24186391, 24189712-24189717, 24194388-24194406, 24194416-24194500, 24194521-24194540, 24194546, 24194563-24194615, 24194623-24194629, 24194652-24194670, 24194683-24194734, 24194748-24194751, 24194755, 24194773-24194776
25LDLRAP110.968716289104642992725870190-25870191, 25870200, 25870213-25870219, 25893429-25893444, 25893481-25893483
26SEPN110.85131894484412248166826126722-26126904, 26131644-26131645, 26135260-26135274, 26135565-26135566, 26135572, 26135602-26135605, 26136174-26136192, 26136301-26136310, 26137968-26137972, 26139195-26139201
27HPCA10.98625429553265858233359420-33359427
28COL9A210.9879227053140125207040769496-40769505, 40769609-40769623
29KCNQ410.9463601532567112208841249766-41249786, 41249811-41249815, 41249824-41249827, 41249849-41249856, 41249858-41249864, 41249869, 41249872, 41249876-41249878, 41249891-41249892, 41249956-41249973, 41250029-41250036, 41250043-41250046, 41284280-41284303, 41284307, 41296967-41296971
30CLDN1910.985185185185191067543201559-43201562, 43201592, 43203963-43203967
31LEPRE110.9651741293532377221143212379-43212388, 43232251-43232254, 43232270-43232274, 43232335-43232337, 43232379-43232405, 43232447-43232467, 43232524-43232530
32SLC2A110.9878296146044618147943424305-43424322
33POMGNT110.997478567826535198346661533-46661534, 46662738, 46663455-46663456
34ORC110.998066511987635258652838974, 52840554-52840555, 52841228-52841229
35PCSK910.9701779701779762207955505549-55505579, 55521683-55521688, 55521733-55521735, 55521755-55521774, 55521847-55521848
36COL11A110.9992669965182345457103364251-103364253, 103364265
37GSTM110.8584474885844793657110230503-110230531, 110230836-110230842, 110231670-110231694, 110232907-110232917, 110233135-110233141, 110235885-110235898
38NOTCH210.98988673139159757416120539665-120539714, 120539778-120539784, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120611964, 120612003-120612004, 120612006
39PRPF310.9980506822612142052150325442-150325445
40FLG10.9331199737403681512186152276487-152276493, 152276715-152276761, 152277167-152277168, 152277312-152277339, 152277438, 152277634, 152278049, 152278431-152278437, 152279210-152279222, 152279378-152279409, 152279838-152279851, 152280002, 152280082-152280085, 152280247-152280277, 152280646-152280653, 152280719, 152281325, 152281566-152281605, 152281618-152281624, 152281854-152281860, 152281908-152281914, 152281961, 152282098-152282136, 152282243-152282254, 152282257, 152282264-152282266, 152282269, 152282272-152282274, 152282288, 152282418, 152282494, 152282507, 152282553, 152282669, 152282685, 152282725, 152282757, 152282887, 152283023, 152283233-152283280, 152283502-152283536, 152283657, 152283997-152284013, 152284075-152284082, 152284119-152284146, 152284178, 152284260-152284280, 152284305, 152284314-152284331, 152284335, 152284339, 152284344, 152284421-152284427, 152284500-152284527, 152284571-152284613, 152284862, 152285045-152285074, 152285091-152285140, 152285168-152285199, 152285469-152285496, 152285959, 152286012-152286022, 152286026-152286028, 152286071, 152286105-152286135, 152286153, 152286157, 152286163, 152286166, 152286171, 152286357-152286363, 152286441-152286462, 152286722, 152286849, 152286885
41CHRNB210.9953611663353271509154544421-154544425, 154544481-154544482
42PKLR10.9994202898550711725155269993
43LMNA10.9979949874686741995156084726-156084729
44SEMA4A10.9969378827646572286156131153-156131159
45NTRK110.96152237557507922391156830727-156830778, 156830790-156830821, 156830849-156830856
46NDUFS210.9971264367816141392161172265-161172268
47SDHC10.996078431372552510161310409-161310410
48DARS210.9963880288957771938173819537-173819543
49HMCN110.99976342559735416908186062792-186062795
50CFHR110.9859013091641514993196799630-196799640, 196799691, 196801042, 196801078
51ASPM10.99932911635039710434197115505-197115511
52CACNA1S10.99786552828175125622201081326-201081332, 201081394-201081397, 201081401
53PKP110.98762035763411272181201282397-201282421, 201294214-201294215
54REN10.99918099918111221204135412
55LAMB310.9997158283603313519209796962
56ADCK310.945987654320991051944227149089-227149092, 227152718-227152720, 227152723, 227152802-227152811, 227152817, 227152825, 227152828, 227152866, 227152919, 227152947-227152949, 227152959-227152960, 227153007-227153016, 227153035, 227169767-227169805, 227169809, 227170595-227170596, 227170603-227170604, 227170665, 227170671-227170686, 227170716, 227171494, 227171923, 227174434-227174435
57GJC210.06287878787878812371320228345460-228345514, 228345524-228345555, 228345569-228345604, 228345622-228345840, 228345846-228346501, 228346521-228346560, 228346573, 228346577-228346581, 228346587-228346779
58ACTA110.99118165784832101134229568035-229568043, 229568398
59LYST10.99947396107312611406235933520-235933525
60ACTN210.9981378026070852685236907995-236907999
61MTR10.9992101105845233798237060942-237060944
62RYR210.99946323134729814904237205864-237205869, 237821321-237821322
63GATA3100.99550561797753613358100744-8100749
64PTF1A100.7943262411347520398723481588-23481594, 23481629, 23481632, 23481657-23481687, 23481701-23481772, 23481836-23481842, 23481876-23481878, 23481896-23481925, 23481940-23481954, 23481960-23481965, 23481968, 23482047-23482053, 23482131-23482151, 23482159
65MASTL100.9954493742889612263727453998-27454003, 27469983-27469988
66RET100.9721973094170493334543572707-43572708, 43572715-43572779, 43596064, 43604655-43604667, 43609004-43609015
67ERCC6100.95403837572512206448250732333-50732336, 50732651-50732652, 50732665-50732680, 50732686-50732694, 50732823, 50736476-50736511, 50736551-50736571, 50738766-50738791, 50738814-50738825, 50740657-50740681, 50740730, 50740784-50740805, 50740820-50740850
68CHAT100.9897641299510523224750822344, 50822361, 50822406-50822426
69PCDH15100.998981151299036588955587195-55587200
70KIAA1279100.99517684887469186670760260-70760268
71NODAL100.999042145593871104472201296
72PRF1100.997002398081535166872358285-72358287, 72358506, 72358559
73CDH23100.99085123309467921005673439210-73439227, 73442313-73442319, 73447406-73447407, 73461783, 73461786-73461789, 73462309-73462321, 73464832, 73464873-73464887, 73490288-73490291, 73551073-73551076, 73572262-73572282, 73572548, 73573105
74PSAP100.994920634920638157573579369-73579372, 73579375-73579377, 73594157
75VCL100.9859030837004448340575758016-75758018, 75758092-75758133, 75802909-75802911
76LDB3100.85805860805861310218488428469-88428502, 88441232, 88441239, 88441251, 88441319-88441337, 88441433-88441437, 88441512-88441516, 88441524-88441528, 88451714-88451717, 88466288, 88466312-88466322, 88466335, 88466358-88466394, 88466436, 88466461-88466465, 88466476, 88469663-88469664, 88469675, 88469720-88469732, 88469794-88469800, 88476089-88476095, 88476106-88476110, 88476132-88476222, 88476247-88476251, 88476287-88476306, 88476345-88476348, 88476409-88476420, 88476424-88476429, 88476433-88476437
77BMPR1A100.9843652282676725159988683146, 88683416-88683439
78GLUD1100.89266547406082180167788836362-88836368, 88854145-88854158, 88854244, 88854299-88854325, 88854352-88854385, 88854392-88854397, 88854402-88854403, 88854412-88854418, 88854426-88854457, 88854476-88854525
79HPS1100.98480531813865322106100177334-100177340, 100177364-100177388
80COX15100.9983779399837821233101491718-101491719
81C10orf2100.998540145985432055102748729-102748731
82HPS6100.99484536082474122328103825378-103825380, 103825440, 103825443-103825446, 103825449-103825452
83SUFU100.95395189003436671455104263981-104264003, 104352410, 104352466, 104356977-104357015, 104359190-104359192
84CYP17A1100.9993451211525911527104590638
85HABP2100.9976232917409441683115341882-115341885
86BAG3100.97222222222222481728121411188-121411194, 121411219-121411236, 121411287, 121411292, 121411302, 121411305-121411321, 121411365-121411367
87HTRA1100.816354816354822651443124221169-124221246, 124221249-124221257, 124221286-124221306, 124221314-124221415, 124221448-124221453, 124221478-124221509, 124221560-124221565, 124221571, 124221574-124221575, 124221583, 124221587-124221588, 124221599-124221603
88ACADSB100.9976905311778331299124768574-124768576
89OAT100.9962121212121251320126097135-126097139
90UROS100.96867167919825798127477437-127477461
91HRAS110.74561403508772145570532636, 532643, 532695-532737, 533464-533501, 533766-533770, 533832-533834, 533915-533917, 533935-533944, 534250-534252, 534259, 534278-534280, 534289-534322
92TALDO1110.811637080867851911014747482-747578, 763347-763353, 763386-763424, 763458-763464, 763747-763785, 763903, 764321
93SLC25A22110.36008230452675622972791915-791949, 791996-792011, 792022-792030, 792047-792050, 792059-792068, 792142-792156, 792180-792206, 792211-792212, 792308-792316, 792325-792371, 792383-792422, 792440-792458, 792553-792727, 792870-792940, 792950-792988, 793553-793563, 794494-794513, 794776-794784, 794801-794828, 794852, 794875-794876, 794880-794881, 794891-794901, 794987-795006
94PNPLA2110.691749174917494671515819719-819834, 819843-819845, 819853-819905, 821640-821645, 821709, 821713-821721, 821732, 821736-821737, 823724-823727, 823789, 823793-823795, 823798, 823814-823815, 823833-823836, 823846-823855, 823998-824044, 824050-824098, 824115, 824314-824339, 824361-824378, 824391-824399, 824433-824436, 824535, 824540-824560, 824573-824592, 824670-824672, 824679, 824687, 824748-824754, 824782-824794, 824805, 824822, 824829-824856
95CTSD110.3995157384987974412391774733-1774777, 1774792-1774812, 1774816, 1774836-1774872, 1774884-1774900, 1775033-1775076, 1775119-1775131, 1775226-1775368, 1776136-1776142, 1778554-1778578, 1778587-1778613, 1778735-1778752, 1778775-1778783, 1780199-1780207, 1780220-1780317, 1780746-1780751, 1780758-1780759, 1780763-1780764, 1780776-1780779, 1780784, 1780798-1780850, 1782544-1782551, 1782575-1782586, 1782590-1782594, 1782605-1782625, 1782636-1782638, 1782650-1782694, 1785022-1785089
96TNNI2110.393442622950823335491861454-1861468, 1861633-1861674, 1861758-1861876, 1861885-1861886, 1862049-1862051, 1862078-1862114, 1862261-1862273, 1862295, 1862298, 1862334, 1862346-1862377, 1862412, 1862686-1862688, 1862694-1862732, 1862758-1862781
97TNNT3110.181467181467186367771944117-1944121, 1944785-1944791, 1946329-1946338, 1946346, 1947933-1947939, 1950350-1950373, 1951050-1951058, 1954951-1955006, 1955013-1955067, 1955161-1955238, 1955562-1955633, 1955640-1955675, 1955776-1955885, 1956059-1956125, 1956147-1956149, 1958193-1958233, 1959668-1959722
98H19110.984126984126981710712017791, 2017820-2017833, 2017836, 2018168
99IGF2110.0126582278481017027112154217-2154453, 2154747-2154895, 2156597-2156759, 2161365-2161400, 2161410-2161526
100TH110.046984126984127150115752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189779, 2189788-2189895, 2190880-2190901, 2190909-2190924, 2190928-2190931, 2190951, 2190958-2191056, 2191073-2191101, 2191920-2192000, 2192937-2193011
101KCNQ1110.7887740029542142920312466329-2466714, 2592620, 2593297-2593338
102CDKN1C1109519512905234-2905364, 2905900-2906719
103SMPD1110.994198312236291118966411931-6411941
104SBF2110.996936936936941755509805979-9805985, 9809232-9809233, 9812121-9812128
105ABCC8110.9837758112094477474617496565, 17496568, 17498214-17498243, 17498256-17498300
106LDHA110.968968968968973199918422513-18422520, 18428754-18428776
107WT1110.81467181467181288155432417813-32417820, 32456334-32456359, 32456467-32456493, 32456532-32456560, 32456571, 32456581-32456586, 32456589-32456622, 32456634, 32456646-32456676, 32456683-32456703, 32456728-32456746, 32456754-32456779, 32456799-32456805, 32456827-32456859, 32456873-32456891
108SLC35C1110.9810606060606120105645827638, 45827641-45827647, 45827798-45827805, 45827827, 45832473-45832474, 45832706
109PEX16110.9279538904899175104145931710-45931728, 45935684-45935686, 45935692-45935695, 45935980-45935986, 45939254-45939295
110F2110.92937399678973132186946741387, 46741402-46741407, 46744739-46744749, 46744813-46744817, 46745007-46745025, 46745051-46745057, 46747442, 46747450-46747454, 46747463-46747464, 46747492-46747503, 46747546-46747564, 46747622-46747628, 46748048-46748070, 46748365, 46749575-46749577, 46749581, 46749590, 46749619, 46749623-46749625, 46750369-46750372
111MADD110.999190938511334494447306500-47306503
112MYBPC3110.94849673202614197382547353674-47353688, 47354154-47354156, 47354420-47354422, 47356614, 47357522, 47359050-47359056, 47359244-47359247, 47362787-47362788, 47364605, 47364614, 47367799, 47367886, 47367889-47367921, 47368985-47368989, 47370038, 47370049-47370057, 47371335-47371341, 47371413, 47371581-47371593, 47371649-47371652, 47372083-47372106, 47372897-47372921, 47372984-47373012, 47373047, 47373056, 47374195-47374198
113SLC39A13110.81362007168459208111647431774-47431777, 47431818-47431833, 47433483-47433485, 47433551, 47433918-47433944, 47434966-47434995, 47435033-47435036, 47435976-47436025, 47436379, 47436427, 47436430-47436442, 47436602-47436621, 47436652-47436653, 47436690-47436702, 47436839-47436861
114RAPSN110.9209039548022698123947459550-47459570, 47460306, 47460376, 47462735, 47463375-47463376, 47463413-47463422, 47469523-47469535, 47470326-47470328, 47470345-47470348, 47470447-47470454, 47470483-47470516
115NDUFS3110.96226415094343079547600821-47600828, 47600878-47600880, 47602507, 47602530, 47603676, 47603739-47603743, 47603946-47603955, 47605973
116SERPING1110.998003992015973150357365744, 57365755, 57381999
117TMEM216110.99621212121212126461165331
118BEST1110.9937428896473311175861723273-61723283
119ROM1110.997159090909093105662380776, 62380816-62380817
120BSCL2110.995680345572356138962469974-62469978, 62472949
121SLC22A12110.60168471720818662166264359030-64359043, 64359079-64359114, 64359131-64359132, 64359175-64359179, 64359186, 64359198-64359199, 64359202-64359206, 64359228, 64359254, 64359286, 64359289-64359355, 64359374-64359401, 64359423, 64360269-64360314, 64360325-64360326, 64360335-64360337, 64360877-64360906, 64360923-64360942, 64360986, 64361005, 64361011-64361017, 64361107-64361149, 64361161-64361239, 64365998-64366009, 64366016, 64366050, 64366055, 64366058, 64366093-64366097, 64366293-64366298, 64366313-64366342, 64366348-64366349, 64366352-64366383, 64367161-64367196, 64367217-64367232, 64367256-64367293, 64367314-64367344, 64367356, 64367362, 64367841-64367861, 64367869, 64367901-64367925, 64368334, 64368342, 64368350, 64369015, 64369021
122PYGM110.82443653618031444252964518797, 64518836, 64518840, 64519122, 64519396-64519410, 64519905-64519926, 64520572-64520573, 64520583-64520584, 64520599-64520601, 64521000-64521047, 64521061, 64521081-64521086, 64521093, 64521096, 64521107, 64521112, 64521122, 64521150, 64521367, 64521394-64521403, 64521432-64521436, 64521461-64521497, 64521743-64521801, 64522177-64522204, 64522281, 64522300-64522307, 64522919-64522940, 64525301, 64525348-64525382, 64525950, 64526080-64526093, 64526157, 64527128-64527224, 64527241, 64527297-64527309, 64527315
123MEN1110.93019480519481129184864571832-64571836, 64571841-64571846, 64571849, 64571977, 64571990, 64572018, 64572029-64572031, 64572089-64572103, 64572213, 64572529, 64572538, 64572552-64572554, 64573129, 64573151-64573153, 64573192-64573213, 64573740, 64575039, 64575043, 64577139-64577158, 64577240-64577255, 64577454-64577455, 64577461, 64577493, 64577497, 64577503-64577509, 64577552, 64577559, 64577563-64577568, 64577572, 64577578-64577581
124RNASEH2C110.9959595959596249565488135, 65488148
125EFEMP2110.999249249249251133265635995
126CST6110.926666666666673345065779656, 65779726-65779731, 65780297-65780305, 65780371-65780387
127SPTBN2110.91886240066918582717366463751-66463752, 66467014, 66467998-66468004, 66468121-66468127, 66468135, 66468138-66468140, 66468229-66468275, 66468284-66468315, 66468346-66468349, 66468369-66468373, 66468397-66468413, 66468526-66468528, 66468568-66468572, 66468734-66468753, 66472170, 66472212-66472218, 66472243-66472267, 66472288-66472297, 66472310-66472317, 66472392, 66472403-66472409, 66472449-66472467, 66472483-66472520, 66472534, 66472537, 66472573-66472576, 66472582-66472595, 66472609-66472639, 66472679, 66472691-66472696, 66472744, 66472759, 66472847, 66472856, 66472935-66472939, 66473240-66473265, 66473289-66473304, 66474990-66474993, 66475075-66475078, 66475106, 66475176, 66475186-66475230, 66475237-66475269, 66475630-66475666, 66475681-66475709, 66475715-66475724, 66475732-66475733, 66475754-66475758, 66475763-66475770, 66478107, 66478433-66478435, 66478439, 66482842-66482848, 66483333-66483342, 66483352, 66483363
128PC110.91970596550749284353766616414-66616440, 66616473, 66617202, 66617255, 66617258, 66617439, 66617534-66617540, 66617721, 66617864-66617865, 66618248, 66618276-66618297, 66618542, 66618651, 66618656, 66618659, 66618670-66618679, 66620096-66620098, 66620102-66620103, 66620107-66620113, 66620289, 66620792, 66631305-66631307, 66631319-66631321, 66631343, 66631347-66631354, 66631364, 66633658-66633673, 66633680-66633703, 66633791, 66637789-66637805, 66637822, 66637837, 66638523-66638526, 66638581-66638623, 66638646, 66638800-66638815, 66638884-66638908, 66639172-66639179, 66639200-66639217
129CABP4110.8285024154589414282867222933, 67222963-67223012, 67223079-67223081, 67223111-67223134, 67223137-67223139, 67223143, 67223167, 67223203, 67223228-67223230, 67223234, 67223891-67223895, 67223900, 67225137-67225153, 67225856, 67225869, 67225912, 67225922-67225949
130AIP110.4884189325276950899367254477-67254479, 67254524-67254550, 67254646, 67256765-67256781, 67256817-67256843, 67256876, 67256881-67256900, 67257520-67257590, 67257596-67257611, 67257623-67257685, 67257787-67257804, 67257813-67257862, 67257870, 67257907-67257928, 67258259-67258323, 67258332-67258437
131NDUFV1110.999283154121861139567374522
132NDUFS8110.5560821484992128163367799619-67799623, 67799629, 67799641-67799654, 67799776-67799799, 67800390-67800435, 67800458-67800479, 67800578-67800597, 67800616-67800624, 67800633-67800644, 67800653-67800718, 67803729-67803754, 67803792-67803825, 67803931, 67803977
133TCIRG1110.497392699558761253249367808739-67808745, 67808768-67808831, 67808851-67808855, 67809230-67809269, 67810110-67810131, 67810150-67810153, 67810158-67810162, 67810172-67810223, 67810257-67810310, 67810314-67810320, 67810413-67810421, 67810441-67810470, 67810476-67810496, 67810854-67810869, 67810893-67810913, 67810919-67810964, 67811117-67811120, 67811306-67811374, 67811599-67811660, 67811685-67811811, 67812425-67812454, 67812472-67812489, 67812520-67812525, 67812540, 67815004-67815031, 67815234-67815241, 67815255-67815264, 67815349-67815356, 67816346-67816364, 67816392-67816411, 67816554-67816585, 67816645, 67816679-67816682, 67816705-67816761, 67817130-67817139, 67817151, 67817158-67817255, 67817466-67817499, 67817505-67817509, 67817520-67817523, 67817604-67817616, 67817625-67817646, 67817668, 67817672-67817676, 67817696-67817721, 67817960-67818005, 67818046, 67818071-67818099, 67818126-67818131, 67818213-67818257
134LRP5110.91171617161716428484868080183-68080273, 68125228-68125231, 68125238-68125240, 68131215-68131219, 68131257-68131260, 68131281-68131342, 68131379-68131411, 68153794-68153809, 68153933-68153950, 68154017-68154025, 68154140-68154164, 68171022-68171032, 68171093, 68174085, 68174089, 68174093-68174094, 68174098-68174105, 68174258-68174259, 68177382-68177391, 68177550-68177592, 68178911-68178929, 68179029-68179031, 68179057-68179072, 68201224, 68201249-68201253, 68204443-68204444, 68204449, 68207274, 68207347-68207370, 68213965-68213969, 68216464-68216465
135CPT1A110.997416020671836232268527743-68527747, 68527751
136IGHMBP2110.94232059020791172298268671421-68671440, 68671450-68671451, 68671460-68671506, 68673559-68673598, 68673639-68673650, 68678963-68678966, 68678972-68678979, 68679028, 68696695-68696696, 68696733, 68700782-68700783, 68700880-68700888, 68704017, 68704029, 68704039-68704040, 68704081-68704086, 68704237, 68704332-68704342, 68704346, 68704354
137DHCR7110.9908963585434213142871146592-71146598, 71146643, 71149982-71149986
138MYO7A110.73540914560771759664876853820, 76858854-76858860, 76858895-76858903, 76858908, 76858929-76858939, 76867120, 76867964-76867975, 76867982, 76868001-76868003, 76873344-76873352, 76877176-76877177, 76883794-76883800, 76883842-76883898, 76885802-76885960, 76886418-76886419, 76886431-76886489, 76886495-76886510, 76888595-76888622, 76888630-76888674, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892613, 76892629, 76892634-76892635, 76892997-76893124, 76893135-76893145, 76893152-76893200, 76893469-76893503, 76893545-76893575, 76893598-76893645, 76894113-76894182, 76895633-76895660, 76895701-76895731, 76895744-76895760, 76900404-76900434, 76900482-76900491, 76901065-76901068, 76901091-76901120, 76901141-76901162, 76901173-76901184, 76901742-76901748, 76901775-76901783, 76901843-76901874, 76901888-76901915, 76903096-76903102, 76903105, 76903125-76903144, 76903248-76903284, 76903312-76903323, 76909570, 76909576, 76909580, 76909654-76909666
139FZD4110.999380421313511161486666099
140MTMR2110.995859213250528193295657105-95657107, 95657111-95657115
141DYNC2H1110.99961375048281512945103043961-103043965
142ACAT1110.9953271028037461284107992365-107992370
143ATM110.9993457638207469171108122570-108122573, 108124738, 108216635
144DLAT110.9984567901234631944111896324, 111896380-111896381
145SDHD110.995833333333332480111965573, 111965577
146DRD2110.9939939939939981332113281449-113281456
147APOA1110.83208955223881135804116706524-116706559, 116706589-116706599, 116706637, 116706649-116706653, 116706667, 116706723, 116706733-116706737, 116706782-116706830, 116706861-116706863, 116706867-116706888, 116706978
148FXYD2110.981735159817358438117693247-117693252, 117693255, 117693312
149ROBO3110.9997596731554914161124735476
150WNK1120.9931458945307497149862742, 862856-862858, 862897-862903, 862979-862993, 863035, 863077-863078, 863255-863274
151CACNA2D4120.993263034563562334141906620-1906642
152CACNA1C120.994360615759793765612675612, 2676845-2676852, 2676880-2676894, 2676899, 2788713-2788714, 2794934-2794940, 2800352-2800354
153VWF120.9870883676853810984426125722-6125728, 6128443, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166082-6166084, 6230392-6230419, 6230484
154TPI1120.92266666666667587506976731-6976749, 6976807-6976845
155ATN1120.982647635040586235737045906-7045915, 7045928-7045931, 7046577-7046579, 7047128-7047158, 7050576, 7050642-7050654
156KRAS120.98947368421053657025380187-25380191, 25380258
157DNM1L120.999095431931252221132866240-32866241
158PKP2120.9856801909307936251433049448-33049464, 33049535-33049539, 33049542-33049555
159LRRK2120.998945147679328758440761525-40761532
160COL2A1120.9881272401433753446448372421, 48372425, 48374337-48374360, 48374436-48374437, 48374738-48374740, 48375155-48375156, 48376920, 48378377-48378382, 48379574-48379580, 48398099-48398104
161MLL2120.954255447213197601661449420177-49420180, 49422861-49422867, 49424114-49424115, 49424131, 49424156-49424187, 49424466-49424511, 49424733-49424740, 49425122, 49425125, 49425131, 49425409-49425411, 49425616-49425619, 49425647-49425650, 49425662, 49425667, 49425682, 49425824-49425828, 49426156-49426161, 49426351-49426385, 49426597, 49426619, 49426694, 49426726-49426755, 49426768-49426802, 49426810-49426830, 49426856-49426861, 49426900-49426909, 49426914-49426921, 49427036-49427037, 49427047-49427062, 49427071, 49427122-49427124, 49427137-49427146, 49427208-49427211, 49427217, 49427268-49427284, 49427306-49427347, 49427430-49427456, 49427542-49427549, 49427643, 49427659-49427661, 49427664-49427667, 49427683, 49431007-49431013, 49431023-49431026, 49431080, 49431279-49431325, 49431484, 49431487-49431490, 49431510-49431523, 49431561, 49431564-49431592, 49431602-49431603, 49431657-49431667, 49431670, 49431703-49431716, 49431732-49431760, 49431795-49431798, 49431834, 49431838-49431840, 49431906, 49431916-49431920, 49431979-49432003, 49432193-49432214, 49432376-49432386, 49432477-49432513, 49432527-49432543, 49433031-49433036, 49433137-49433141, 49433324-49433325, 49433363-49433377, 49433731-49433733, 49433739-49433758, 49434039-49434040
162TUBA1A120.6842105263157914445649522206-49522241, 49522269, 49522284-49522320, 49522382-49522414, 49522442-49522471, 49522530-49522536
163KRT81120.91699604743083126151852682999-52683005, 52683862-52683873, 52684034-52684064, 52685062-52685070, 52685093-52685129, 52685167-52685196
164KRT86120.9671457905544148146152696887-52696920, 52696994, 52697081-52697092, 52697952
165KRT6B120.9557522123893875169552844240-52844268, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845798-52845804
166KRT6C120.9758112094395341169552865918, 52867190, 52867257-52867263, 52867321-52867345, 52867457-52867463
167KRT2120.999479166666671192053045626
168ITGA7120.999708114419151342656101451
169MYO1A120.999680715197961313257423262
170GNS120.999397227245331165965152969
171CEP290120.999327956989255744088472949-88472953
172TMPO120.9923261390887316208598921668-98921683
173UNG120.998938428874731942109535567
174MMAB120.8605577689243105753109999225-109999234, 110011152-110011226, 110011238-110011247, 110011272-110011281
175MVK120.9966414777497941191110019288-110019290, 110034249
176TRPV4120.940366972477061562616110221451-110221476, 110221572, 110224611, 110226237-110226239, 110226431, 110230181, 110230476, 110234358, 110236658, 110246103-110246116, 110246151, 110246169-110246170, 110246176, 110246220-110246237, 110252406-110252446, 110252555-110252597
177ATXN2120.828259766615936773942111958710, 111958714, 112036588-112036899, 112036905-112037157, 112037186-112037285, 112037291, 112037296-112037304
178ACADS120.79983857949962481239121174869, 121175169, 121175219-121175221, 121175224-121175225, 121175228-121175230, 121175676-121175678, 121175708-121175721, 121175766-121175791, 121176183-121176202, 121176373, 121176412-121176449, 121176635-121176657, 121176663-121176701, 121176943-121176977, 121177147, 121177150, 121177213-121177249
179HNF1A120.939345991561181151896121416624-121416626, 121416708, 121416844, 121434189-121434205, 121434347-121434363, 121434426-121434440, 121435298, 121435325-121435330, 121435425, 121437309, 121437313, 121437322, 121437325-121437327, 121437391-121437414, 121438893, 121438974-121438995
180HPD120.9991539763113411182122292698
181PUS1120.98208722741433231284132414283, 132414457-132414459, 132414472, 132414515-132414530, 132426330, 132426394
182SACS130.9999272197962211374023949259
183B3GALTL130.9639278557114254149731774222-31774252, 31774255-31774277
184FREM2130.999158780231348951039261567, 39261759, 39261833, 39261910-39261914
185SUCLA2130.994252873563228139248571064-48571071
186ATP7B130.999772623919961439852508953
187SLITRK1130.999043519846962209184453802-84453803
188ZIC2130.94996873045654801599100634393, 100634402-100634406, 100634538, 100634580, 100634589-100634595, 100634598-100634601, 100634701-100634702, 100634717, 100634821-100634827, 100635008-100635013, 100637691, 100637723-100637724, 100637728-100637747, 100637826-100637844, 100637926-100637928
189COL4A1130.9872255489022645010110959303-110959325, 110959334-110959374
190F7130.02172284644194813061335113760156-113760219, 113765004-113765103, 113765112-113765139, 113765145-113765164, 113768071-113768090, 113768161-113768274, 113769974-113770114, 113771080-113771140, 113771152-113771189, 113771787-113771910, 113772727-113773322
191F10130.73074301295163951467113777170-113777239, 113783828, 113798187, 113798308-113798340, 113798381-113798383, 113798400-113798409, 113803230-113803234, 113803244-113803247, 113803296-113803332, 113803350-113803396, 113803404-113803431, 113803464-113803487, 113803499, 113803528-113803627, 113803663-113803675, 113803679-113803683, 113803695-113803697, 113803700, 113803822-113803830
192GRK1130.79196217494093521692114321711-114321732, 114321758-114321790, 114321793, 114321804, 114321809-114321810, 114321817, 114321821-114321823, 114321908-114321920, 114321924-114321927, 114321950, 114321994, 114322020, 114322059-114322061, 114322120-114322156, 114322173-114322177, 114322196-114322202, 114322225-114322258, 114322266-114322271, 114322276-114322278, 114322305, 114322358-114322373, 114324098, 114324101-114324102, 114324108-114324113, 114325814-114325827, 114325864-114325885, 114325895, 114325936-114325971, 114426047-114426101, 114426129-114426130, 114434220-114434222, 114434234, 114434237, 114435945, 114435952, 114435959, 114435963, 114435971, 114436051-114436058
193TEP1140.9984779299847812788420851760-20851771
194SLC7A7140.996093756153623282123, 23282178-23282182
195PABPN1140.935939196525525992123790679-23790714, 23790739-23790756, 23790913-23790914, 23791018-23791020
196MYH6140.9972508591065316582023867958-23867959, 23869543-23869545, 23871993-23872003
197NRL140.90476190476196871424550510-24550516, 24550552-24550555, 24550602-24550626, 24550633, 24550644-24550647, 24551772-24551785, 24551814-24551816, 24551819, 24552020-24552028
198TINF2140.9918879056047211135624711491-24711501
199TGM1140.84229828850856387245424718547-24718548, 24718558, 24718564, 24718707-24718711, 24723387, 24723482-24723494, 24723883-24723889, 24723902-24723941, 24724189, 24724212-24724231, 24724287-24724289, 24724293-24724295, 24724379-24724386, 24724412-24724435, 24724450-24724459, 24724705-24724716, 24725196-24725208, 24725219-24725235, 24725265-24725283, 24727518-24727532, 24727543, 24727570-24727584, 24727746-24727753, 24727786-24727789, 24728282, 24728397, 24728933-24728936, 24728940-24728949, 24729192-24729199, 24729656-24729660, 24729691-24729703, 24729728-24729752, 24729850-24729856, 24730999-24731008, 24731247-24731290, 24731420-24731422, 24731449-24731455, 24731529-24731533, 24731539
200FOXG1140.83673469387755240147029236536-29236543, 29236647-29236650, 29236658-29236667, 29236676-29236680, 29236683, 29236692-29236698, 29236703, 29236731-29236736, 29236747-29236752, 29236755-29236759, 29236762-29236777, 29236784-29236954
201CFL2140.98802395209581650135182641-35182643, 35183744-35183746
202NKX2-1140.90049751243781120120636986499-36986500, 36986586-36986593, 36986602-36986646, 36986660, 36986693-36986724, 36986829-36986833, 36986841, 36986865-36986867, 36986882, 36986967, 36988358-36988378
203C14orf104140.91964996022275202251450100367-50100380, 50100527-50100530, 50100679-50100701, 50100747-50100752, 50100756, 50100761-50100779, 50100819, 50100906, 50100909, 50100939-50100957, 50100968-50100987, 50101046-50101058, 50101080-50101081, 50101092-50101141, 50101237, 50101362-50101370, 50101485-50101487, 50101575, 50101637-50101645, 50101799-50101802, 50101812
204GCH1140.87383798140779575355369162-55369175, 55369213-55369244, 55369279-55369298, 55369340-55369368
205OTX2140.978747203579421989457268838, 57268875-57268876, 57268886-57268901
206SYNE2140.9999517467670312072464443281
207ZFYVE26140.99986876640421762068238784
208VSX2140.9788213627992623108674706412-74706418, 74706420-74706428, 74706452-74706456, 74706468-74706469
209EIF2B2140.994318181818186105675471598-75471603
210ESRRB140.92141453831041120152776905699, 76905772-76905777, 76906092-76906093, 76957790-76957818, 76957867-76957880, 76957931-76957937, 76964596, 76964633, 76964636-76964643, 76964655, 76964668-76964717
211POMT2140.9853528628495333225377745166, 77786855-77786857, 77786865-77786884, 77786901, 77786969-77786976
212AMN140.002202643171806213591362103389026-103389068, 103390048-103390166, 103390275-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
213INF2140.1685333333333331183750105167718-105167721, 105167724-105167730, 105167744-105167772, 105167778-105168025, 105168046-105168055, 105168063-105168093, 105169442-105169491, 105169500-105169504, 105169508-105169513, 105169516-105169557, 105169632-105169690, 105169697-105169781, 105170253-105170264, 105170268, 105170282-105170286, 105172372-105172478, 105172492-105172513, 105173254-105173388, 105173590-105173820, 105173857-105173896, 105173906-105174230, 105174240-105174303, 105174313, 105174316-105174339, 105174773-105174808, 105174815-105174924, 105175008-105175036, 105175045-105175069, 105175618-105175639, 105175647-105175662, 105175680-105175688, 105175720, 105175957-105176042, 105176425-105176525, 105177274-105177280, 105177301-105177323, 105177333-105177344, 105177416-105177523, 105177966-105177968, 105178002-105178036, 105178770-105178890, 105179165-105179211, 105179240-105179290, 105179299, 105179308-105179329, 105179544-105179569, 105179603-105179605, 105179608-105179636, 105179782-105179796, 105179811-105179812, 105179816-105179824, 105179880-105179901, 105179910-105179943, 105180540, 105180552-105180568, 105180575, 105180584-105180586, 105180589-105180752, 105180767-105180812, 105180824-105180868, 105180898-105180941, 105180953-105181063, 105181086-105181115, 105181119-105181181, 105181621-105181665
214NIPA1150.8171717171717218199023049295-23049297, 23086234-23086411
215OCA2150.9956297179181611251728096538, 28273150-28273159
216IVD150.995316159250596128140698026-40698031
217CHST14150.91158267020336100113140763447-40763454, 40763474, 40763493-40763541, 40763550-40763569, 40763581, 40763673-40763693
218CDAN1150.999728555917481368443029278
219STRC150.999436936936943532843910867-43910869
220STRC150.999487179487181195044009619
221SPG11150.9974086197490519733244864975, 44865804-44865820, 44914947
222DUOX2150.9845061329890372464745403462-45403468, 45403582-45403599, 45403647, 45403676-45403718, 45403782-45403783, 45405202
223GATM150.999213836477991127245670619
224CEP152150.999194360523674496549073463-49073466
225PPIB150.99078341013825665164455110-64455115
226MAP2K1150.998307952622672118266679742, 66679752
227CLN6150.933760683760686293668500483-68500495, 68521840-68521845, 68521880-68521922
228NR2E3150.9873188405797114110472103138-72103142, 72103862-72103869, 72103877
229HEXA150.997484276729564159072668282-72668285
230HCN4150.82945736434109616361273614871-73614872, 73614881, 73614888-73614889, 73614893, 73614897-73614899, 73614902-73614903, 73614906-73614907, 73614932, 73614971, 73615058, 73615062-73615069, 73615074-73615080, 73615084-73615088, 73615099-73615102, 73615105, 73615109-73615111, 73615121, 73615158-73615180, 73615220-73615221, 73615345, 73615403-73615421, 73615438, 73615460, 73615527, 73615575, 73615585, 73615599, 73615919, 73615933, 73615950, 73615955, 73616151, 73616164-73616165, 73616177-73616187, 73616207-73616219, 73616432-73616433, 73616526-73616528, 73616573, 73616585, 73616591, 73617655, 73659945, 73659949-73659951, 73659954, 73659976-73659978, 73659987, 73660027-73660106, 73660111, 73660117, 73660135-73660140, 73660148-73660198, 73660217-73660255, 73660275-73660312, 73660324-73660386, 73660396-73660398, 73660408-73660469, 73660477-73660583, 73660592-73660611
231PSTPIP1150.0567545963229421180125177310489-77310536, 77310548-77310589, 77310798-77310820, 77310828-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320938, 77320956-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
232RPS17150.99754901960784140882823390
233RPS17150.99754901960784140883207733
234POLG150.997580645161299372089872183, 89876816, 89876828-89876830, 89876833-89876836
235MESP2150.75293132328308295119490319616-90319633, 90319644-90319671, 90319724-90319730, 90319786-90319834, 90319858-90319859, 90319863, 90319868, 90319913-90319916, 90319981-90319991, 90320001, 90320004-90320008, 90320033-90320055, 90320061-90320119, 90320149, 90320161, 90320252-90320287, 90320297-90320319, 90320367-90320391
236BLM150.9931828866948829425491337419-91337423, 91337460-91337473, 91337476-91337477, 91337479, 91337541-91337544, 91337570-91337572
237VPS33B150.997303128371095185491548928-91548932
238IGF1R150.989035087719345410499192876-99192904, 99500577-99500592
239HBZ160.25874125874126318429202909-202937, 203891-203896, 203920-204022, 204034-204038, 204048-204095, 204271-204397
240HBM160.988262910798125426216030, 216338-216341
241HBA2160.6037296037296170429222912-222929, 222940-222988, 223179-223185, 223189, 223207, 223210, 223213-223216, 223228, 223244, 223247-223254, 223260, 223269-223328, 223475, 223481-223482, 223493, 223511, 223527-223533, 223543-223546, 223565, 223568
242GNPTG160.810457516339871749181401967-1402018, 1402121-1402145, 1402240-1402307, 1411766-1411767, 1411943, 1412211-1412214, 1412257, 1412259-1412279
243CLCN7160.33167907361456161624181496632-1496661, 1496681-1496714, 1497007-1497087, 1497393-1497569, 1497656-1497702, 1497714-1497715, 1498356-1498423, 1498455-1498458, 1498481-1498485, 1498682-1498767, 1498967-1498979, 1498991-1499023, 1499026-1499057, 1499072-1499094, 1499277-1499328, 1500498-1500617, 1500624-1500667, 1501624-1501717, 1502756-1502846, 1502864-1502894, 1503845-1503885, 1504412, 1504422-1504431, 1504458-1504466, 1505143-1505231, 1505732-1505747, 1505758-1505774, 1506115-1506207, 1507255-1507276, 1507728-1507738, 1509132-1509177, 1510448, 1510451, 1510884-1510911, 1510937-1510943, 1511406-1511421, 1511450-1511461, 1524837-1524955, 1524966-1524975
244IGFALS160.22360248447205150019321840601-1840616, 1840635-1840648, 1840654-1840706, 1840718-1840749, 1840767, 1840783-1840785, 1840797-1840823, 1840827, 1840838-1840900, 1840907-1840990, 1840997-1841012, 1841033, 1841045-1841084, 1841102-1841129, 1841137-1841150, 1841173-1841307, 1841331-1841360, 1841368-1841382, 1841389-1841474, 1841496-1841607, 1841612-1841661, 1841670-1841709, 1841720-1841800, 1841806-1841885, 1841898, 1841902, 1841908-1841923, 1841930-1842002, 1842008-1842047, 1842055-1842057, 1842063-1842068, 1842078-1842158, 1842169-1842211, 1842233-1842237, 1842246-1842348, 1842363-1842390, 1842402-1842428, 1842465-1842509, 1842515-1842516, 1843650-1843653
245GFER160.213592233009714866182034220-2034477, 2034748-2034763, 2034773-2034775, 2034778-2034780, 2034787-2034788, 2034791-2034793, 2034805, 2034809, 2034818-2034852, 2034867-2034870, 2034877-2034927, 2034933-2034944, 2035898, 2035913-2035938, 2035960-2036029
246TSC2160.26290560471976399854242098638-2098680, 2098686, 2098719-2098754, 2100401-2100410, 2100422-2100423, 2100442, 2100462-2100466, 2103343-2103350, 2103357, 2103394, 2103397-2103398, 2103404, 2103451, 2104316, 2104349, 2104352-2104359, 2104394-2104399, 2106217, 2108763-2108804, 2108815-2108816, 2108844-2108874, 2110671-2110672, 2110687, 2110719-2110721, 2110730-2110733, 2110764-2110765, 2110776-2110805, 2110812, 2111873, 2111917-2111922, 2111930, 2111935, 2111973-2111996, 2112499-2112530, 2112554-2112581, 2112981-2113026, 2113034-2113054, 2114279-2114324, 2114334, 2114347-2114376, 2114385, 2114407-2114428, 2115573-2115636, 2120457-2120493, 2120500-2120512, 2120522, 2120525-2120571, 2121511-2121617, 2121785-2121829, 2121839-2121935, 2122243, 2122248-2122252, 2122263-2122303, 2122325-2122351, 2122850-2122855, 2122884-2122910, 2122923-2122957, 2122973-2122984, 2124201-2124390, 2125800-2125812, 2125893, 2126069-2126092, 2126104, 2126128-2126162, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137880, 2137894-2137942, 2138049-2138140, 2138228-2138317, 2138325-2138326, 2138447-2138611
247PKD1160.002400867410161112881129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481, 2142493-2142518, 2142524-2142593, 2142955-2143094, 2143545-2143738, 2143812-2143882, 2143897-2144014, 2144093-2144211, 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, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
248ABCA3160.7663734115347119551152327598-2327601, 2327611, 2327616, 2327623, 2328329-2328330, 2328372-2328425, 2328449-2328459, 2328953-2329000, 2331041, 2331048-2331049, 2331064, 2331105, 2331120-2331122, 2331131-2331138, 2331149-2331190, 2331384-2331397, 2331425-2331433, 2331499-2331510, 2333187-2333221, 2333228-2333272, 2333302-2333325, 2333328, 2333332-2333334, 2334305, 2334313, 2334316, 2334326, 2334339-2334340, 2334351-2334365, 2334780-2334781, 2334806, 2334960-2334999, 2335443-2335463, 2335552, 2335560-2335594, 2336915, 2336956-2336958, 2338035, 2338041-2338088, 2338140-2338185, 2338201-2338241, 2338273-2338294, 2339443, 2339553, 2339557, 2339560, 2339572, 2339611-2339621, 2342147-2342168, 2345591-2345667, 2345714, 2347334-2347345, 2347389-2347396, 2347403, 2347408-2347411, 2347430-2347431, 2347442, 2347479-2347498, 2347531-2347540, 2347770-2347807, 2347863-2347871, 2347890-2347922, 2348389-2348411, 2348434-2348457, 2348490-2348538, 2349404-2349410, 2349429-2349475, 2349491-2349533, 2350015-2350016, 2350070-2350085, 2350126-2350149, 2354102-2354134, 2358508, 2367331-2367336, 2367739, 2367756-2367757, 2369605, 2369654, 2369658, 2369662-2369663, 2369666, 2369791-2369806, 2373526, 2376067, 2376244-2376275, 2376415
249MEFV160.9556692242114210423463293494, 3293626, 3293861-3293863, 3293888, 3294480-3294489, 3296538-3296547, 3297018, 3304201, 3304204-3304209, 3304262, 3304271-3304272, 3304439, 3304445, 3304500-3304532, 3304658-3304668, 3304698-3304699, 3306320, 3306340, 3306344-3306353, 3306415-3306419, 3306428, 3306432
250SLX4160.98274296094469555053632527-3632552, 3632578-3632605, 3639452-3639453, 3639457-3639469, 3639475, 3639843-3639845, 3639998-3639999, 3640409-3640413, 3642821-3642823, 3647472-3647477, 3647877-3647882
251CREBBP160.9675262655205323873293777728-3777733, 3777758-3777766, 3778136-3778148, 3778325, 3778396-3778406, 3778427, 3778451-3778455, 3778605-3778618, 3778630-3778636, 3778640, 3778673-3778677, 3778797-3778803, 3778834-3778837, 3778942-3778954, 3778980, 3779003-3779014, 3779055-3779087, 3779159-3779164, 3779175-3779181, 3779254-3779265, 3779334-3779337, 3779346-3779355, 3779365-3779366, 3779406-3779416, 3779433-3779436, 3779448-3779456, 3779468-3779471, 3779703-3779709, 3929833-3929847, 3929888-3929891
252GLIS2160.17777777777778129515754382282-4382311, 4382328-4382332, 4382370-4382384, 4382389, 4382393, 4382418, 4382435-4382453, 4383353-4383408, 4383444-4383520, 4384802-4384915, 4384945-4384951, 4384970-4384978, 4385066-4385194, 4385276-4385283, 4385303, 4385315, 4385324-4385365, 4385378-4385394, 4386726-4386765, 4386790-4387040, 4387055-4387525
253ALG1160.8960573476702514513955121898-5121900, 5128856-5128879, 5129766-5129807, 5130947-5131000, 5132636, 5134862-5134882
254ABAT160.992015968063871215038870334-8870343, 8873349, 8873409
255MYH11160.999494949494953594015829232, 15829281-15829282
256ABCC6160.710992907801421304451216244019-16244027, 16244090-16244098, 16244561, 16248612, 16253339-16253360, 16253381-16253383, 16253423, 16255295-16255321, 16255328-16255383, 16255399-16255421, 16256857, 16256868-16256874, 16256891-16256929, 16256964-16257002, 16257009, 16257017, 16257030, 16259480-16259655, 16259676-16259790, 16263503-16263710, 16267141-16267261, 16269768-16269830, 16271309-16271323, 16271343-16271380, 16271387-16271390, 16271406-16271410, 16271427-16271438, 16271455-16271483, 16272665, 16272670, 16272693, 16272704, 16272768, 16272771, 16272786, 16276270-16276305, 16276318, 16276337-16276340, 16276343, 16276412-16276415, 16276418-16276420, 16276423, 16276432-16276433, 16276746-16276779, 16278824-16278826, 16278835-16278836, 16278869, 16280991-16281010, 16281034, 16282688-16282712, 16286748, 16291883-16291896, 16291936, 16291941-16291945, 16291990, 16292028-16292036, 16295932, 16297382-16297427, 16302586, 16313411-16313434, 16315635, 16317256-16317283
257UMOD160.9890795631825321192320359858-20359877, 20360482
258OTOA160.997660818713458342021696661, 21747694-21747700
259COG7160.9814094249891943231323400393-23400407, 23403701-23403707, 23409426-23409429, 23436131-23436134, 23436166-23436168, 23464173-23464182
260CLN3160.9650721336370546131728497686-28497688, 28497692, 28497703-28497715, 28498835-28498842, 28498855-28498862, 28499912-28499918, 28499925, 28500655-28500658, 28500665
261TUFM160.9831871345029223136828857338-28857345, 28857381, 28857390-28857403
262ATP2A1160.9876912840984737300628893772, 28895969-28895970, 28898582, 28898888-28898892, 28898895-28898898, 28898981-28898995, 28900257, 28900266-28900269, 28906189-28906192
263CD19160.9832435667265128167128948371-28948380, 28949097-28949103, 28949115, 28950008-28950016, 28950248
264PHKG2160.9492219492219562122130760142-30760161, 30760168-30760170, 30760181-30760216, 30764797-30764799
265VKORC1160.979674796747971049231102652-31102660, 31105982
266FUS160.9430740037950790158131191536-31191548, 31193883, 31193892, 31193897, 31195261, 31195269, 31195586-31195587, 31195620-31195638, 31195659-31195672, 31195688-31195690, 31195693-31195694, 31196408-31196411, 31196415-31196427, 31196430-31196444
267SLC5A2160.9831599801882134201931498961-31498962, 31499056-31499058, 31500222-31500245, 31500300-31500304
268NOD2160.999359590137692312350745372-50745373
269SALL1160.999245283018873397551175656-51175658
270RPGRIP1L160.998480243161096394853672265-53672269, 53730150
271SLC12A3160.9747817652764378309356920276, 56920375, 56920892-56920910, 56920940-56920968, 56921862-56921863, 56921885-56921890, 56921894, 56921897-56921901, 56921930-56921943
272GPR56160.93943798449612125206457684200, 57684224-57684253, 57687218, 57687908, 57687944, 57687949, 57688015-57688045, 57689311-57689312, 57689317, 57689342-57689355, 57690469, 57693359-57693382, 57693386, 57695761-57695776
273TK2160.910173160173168392466583868-66583875, 66583890-66583919, 66583938-66583941, 66583957, 66584012-66584044, 66584052-66584057, 66584062
274HSD11B2160.77504105090312274121867465152-67465401, 67465411-67465416, 67469994-67470000, 67470258-67470263, 67470520, 67470523-67470525, 67470858
275LCAT160.83673469387755216132367973907-67973908, 67973919, 67973923, 67973966, 67973969, 67973977, 67973980-67973982, 67973985-67973996, 67974026-67974033, 67974169, 67974209-67974210, 67974377-67974381, 67976370, 67976417, 67976420-67976421, 67976452-67976490, 67976574-67976596, 67976616-67976625, 67976776, 67976811-67976853, 67976878-67976879, 67976968-67976999, 67977069-67977079, 67977986-67977998
276CDH3160.9763052208835359249068716290-68716292, 68721550, 68721589-68721597, 68725742-68725787
277CDH1160.9845224613061541264968771319-68771344, 68771347-68771351, 68771359, 68771362-68771363, 68772295-68772301
278COG8160.91571506253399155183969364742-69364772, 69364780-69364832, 69364852-69364858, 69364936-69364940, 69373079-69373091, 69373223-69373234, 69373264-69373292, 69373325-69373328, 69373403
279AARS160.9931200550395620290770299556-70299563, 70301625, 70301708-70301710, 70302224, 70303576-70303582
280GCSH160.7375478927203113752281129736-81129872
281GAN160.9609810479375770179481348719, 81348731-81348779, 81348790-81348797, 81348856-81348867
282MLYCD160.73414304993252394148283932750-83932753, 83932765-83932796, 83932802-83932858, 83932866, 83932874-83932900, 83932906-83932955, 83932980-83933068, 83933079-83933149, 83933160-83933165, 83933197-83933246, 83941817-83941820, 83941867-83941868, 83948807
283LRRC50160.998163452708914217884203819, 84205952, 84209860, 84211355
284FOXF1160.91140350877193101114086544181-86544184, 86544211-86544226, 86544232, 86544269-86544271, 86544326-86544327, 86544399, 86544517-86544519, 86544596-86544608, 86544823-86544836, 86544932-86544951, 86544957-86544978, 86544992, 86546664
285FOXC2160.84661354581673231150686601333-86601337, 86601340-86601346, 86601413-86601431, 86601439, 86601500-86601530, 86601553-86601556, 86601628-86601634, 86601642-86601680, 86601708, 86601780-86601826, 86601872-86601877, 86601968, 86601971, 86601974-86601987, 86602001-86602015, 86602066-86602067, 86602181-86602211
286JPH3160.70894526034713654224787636864-87636885, 87636902-87636926, 87636938-87636963, 87678283-87678290, 87678633-87678635, 87717796-87717816, 87717862-87717871, 87723257-87723264, 87723292-87723316, 87723330, 87723342-87723385, 87723394-87723447, 87723485-87723510, 87723522-87723711, 87723721-87723724, 87723737-87723743, 87723748-87723795, 87723822, 87723875-87723894, 87723908-87723930, 87723934-87723942, 87723967-87724033, 87724106-87724117
287CYBA160.3197278911564640058888709761-88709979, 88712544-88712548, 88712575-88712599, 88713190, 88713201, 88713524-88713583, 88714453-88714474, 88714478, 88714502-88714522, 88717364-88717376, 88717385-88717416
288APRT160.06261510128913450954388876106-88876248, 88876478-88876556, 88876831-88876867, 88876894-88876964, 88877958-88878015, 88878024-88878064, 88878228-88878307
289GALNS160.60866794136393614156988880847-88880881, 88880897, 88884415-88884532, 88888997-88889041, 88889071, 88889096-88889118, 88891175-88891233, 88891246-88891265, 88891269, 88893160, 88893183, 88893186-88893189, 88893193-88893224, 88898468, 88898472-88898474, 88901689-88901696, 88901749-88901760, 88902195, 88904048, 88907419-88907452, 88907489-88907502, 88909114-88909155, 88909177-88909214, 88909233-88909237, 88923166-88923229, 88923236-88923285
290SPG7160.87772194304858292238889574826-89574876, 89574889-89574895, 89574905-89574992, 89575001-89575008, 89576898, 89579399-89579411, 89590566, 89595952, 89598350-89598358, 89598400-89598402, 89598445-89598469, 89613117, 89614456-89614464, 89616980-89617002, 89619505-89619508, 89620337, 89620352-89620364, 89623468-89623501
291FANCA160.93292124542125293436889805061-89805065, 89805082, 89805094-89805116, 89805314-89805315, 89805327-89805332, 89805886-89805896, 89807225, 89833567, 89833576-89833577, 89836972-89836983, 89837007-89837036, 89838096, 89838103-89838106, 89838127-89838128, 89839720-89839726, 89839750-89839755, 89839758, 89839761-89839764, 89839788-89839791, 89842163-89842189, 89842200-89842223, 89877343, 89877352, 89880943, 89882285-89882326, 89882371-89882373, 89882382-89882394, 89882945-89882992, 89883014-89883023
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293PRPF8170.996147260273972770081557236, 1587772-1587777, 1587814, 1587823-1587838, 1587863-1587865
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452PEX1320.9966996699674121261258643-61258646
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466MERTK20.987393000112656313-112656343, 112686986-112686993
467PAX820.97487065779749341353113993002-113993011, 113994193-113994216
468GLI220.902541482881754644761121555017-121555019, 121708910, 121728133-121728163, 121729543-121729551, 121729626, 121729632-121729639, 121745835-121745839, 121745894-121745901, 121745957, 121745988, 121745991-121745995, 121746000-121746001, 121746005-121746008, 121746071, 121746081-121746085, 121746088, 121746133-121746196, 121746212-121746249, 121746281-121746282, 121746296-121746390, 121746430-121746459, 121746513-121746517, 121746530-121746542, 121746554-121746565, 121746573-121746598, 121746603, 121746762-121746803, 121746965, 121747164-121747165, 121747343-121747346, 121747406, 121747417-121747420, 121747429, 121747540, 121747667-121747683, 121747690-121747698, 121747702, 121747741-121747743, 121748040-121748044, 121748048
469BIN120.96071829405163701782127806121-127806127, 127808475-127808488, 127815049-127815063, 127815124-127815130, 127864436-127864456, 127864507-127864512
470PROC20.94227994227994801386128180493-128180494, 128180620-128180644, 128180676-128180681, 128180699-128180745
471CFC120.69345238095238206672131279069, 131279422, 131279621-131279638, 131279655-131279658, 131279664, 131280363-131280407, 131280413-131280462, 131280742-131280749, 131280753-131280754, 131280786-131280824, 131285290-131285325, 131285342
472RAB3GAP120.9996605566870312946135888280
473NEB20.999148893561631719974152432761-152432768, 152432828-152432829, 152500422-152500428
474SCN2A20.9993353273512846018166171999-166172002
475SCN1A20.9988327497081975997166848838-166848844
476SCN9A20.9996629592180725934167060870-167060871
477ABCB1120.99697428139183123966169873298-169873309
478ITGA620.99877899877943276173292517-173292520
479HOXD1320.89534883720931081032176957619-176957623, 176957629-176957635, 176957670-176957689, 176957713-176957741, 176957751-176957753, 176957792-176957835
480AGPS20.9979767324228641977178257708-178257711
481DFNB5920.9981114258734721059179319062-179319063
482TTN20.9998304205570217100248179417740-179417742, 179434921-179434922, 179499175-179499176, 179510658-179510661, 179514904-179514909
483CERKL20.98186366479049291599182468624-182468636, 182468692-182468693, 182468733-182468736, 182468766-182468775
484COL3A120.9984094523971874401189872614-189872620
485STAT120.9991122947181522253191859800-191859801
486NDUFS120.98809523809524262184207018377-207018402
487PNKD20.9982728842832521158219204537-219204538
488DES20.925690021231421051413220283190-220283197, 220283225-220283284, 220283444-220283447, 220283659-220283662, 220283696-220283724
489OBSL120.898611843261295775691220416397-220416425, 220416835-220416841, 220416859-220416860, 220416870, 220416938, 220417266, 220417293-220417296, 220417324-220417344, 220417352-220417419, 220417590-220417604, 220417647-220417675, 220435231-220435239, 220435277-220435285, 220435490-220435524, 220435545, 220435553-220435571, 220435581, 220435598-220435629, 220435636-220435818, 220435829-220435898, 220435915-220435954
490CHRND20.98519948519949231554233390935, 233390939, 233390945-233390957, 233396255-233396262
491CHRNG20.998069498069531554233409482-233409483, 233409524
492COL6A320.9998951122299119534238303432
493AGXT20.719253604749793311179241808283-241808319, 241808348-241808372, 241808380, 241808390-241808410, 241808589, 241808608-241808662, 241808685-241808722, 241808744, 241810071, 241810083-241810125, 241810766-241810779, 241812426, 241813397-241813435, 241815386, 241815394-241815396, 241817006-241817049, 241817455, 241817490-241817493, 241817497
494D2HGDH20.810344827586212971566242674729, 242674743-242674745, 242689585-242689612, 242690750-242690758, 242695264-242695270, 242695298, 242695305-242695316, 242695320-242695325, 242695342, 242695363-242695411, 242695424-242695429, 242707125-242707131, 242707142-242707179, 242707217-242707237, 242707248-242707269, 242707280, 242707283-242707359, 242707377-242707384
495C20orf54200.9957446808510661410744530-744535
496AVP200.438383838383842784953063286-3063328, 3063334-3063356, 3063371-3063372, 3063376, 3063382-3063448, 3063623-3063628, 3063638-3063694, 3063706-3063707, 3063726-3063736, 3063744-3063780, 3063789-3063814, 3063822-3063824
497PANK2200.948044366608298917133869796-3869799, 3869989, 3870012, 3870017, 3870100-3870111, 3870135-3870158, 3870187, 3870189-3870195, 3870209-3870210, 3870217-3870219, 3870222-3870227, 3870230-3870237, 3870241, 3870259-3870276
498JAG1200.9961717254580314365710653392-10653394, 10654120-10654130
499C20orf7200.9585741811175343103813765715-13765717, 13765804-13765806, 13765900-13765936
500THBD200.9872685185185222172823029682-23029693, 23029706, 23029711, 23029714-23029720, 23029899
501SNTA1200.74176548089592392151831998019, 31998088, 32000133-32000175, 32000207-32000232, 32000381-32000417, 32000428, 32000465-32000466, 32000569-32000578, 32000583-32000584, 32031129, 32031146, 32031160-32031426
502GDF5200.9913678618857913150634021735-34021741, 34022284-34022285, 34025105-34025106, 34025352, 34025357
503HNF4A200.9656140350877249142543052767-43052800, 43052878-43052892
504ADA200.9862637362637415109243252855-43252857, 43254311, 43254314-43254315, 43257770-43257777, 43280222
505CTSA200.9559118236472966149744519966-44519969, 44520213-44520267, 44526370-44526376
506SALL4200.997153700189759316250408226-50408232, 50408433, 50408443
507PCK1200.999464954521131186956138224
508GNAS200.914634146341466373857415162-57415187, 57415245, 57415274-57415276, 57415329-57415341, 57415398-57415415, 57415460, 57415895
509GNAS200.89242132305716335311457428429, 57428440-57428444, 57428461, 57429071-57429083, 57429113-57429132, 57429185-57429220, 57429261-57429262, 57429442-57429461, 57429477-57429516, 57429591-57429620, 57429643-57429658, 57429684-57429711, 57429722-57429730, 57429734, 57429750-57429785, 57429809-57429820, 57429841, 57429946, 57429974-57429976, 57429997, 57430000-57430003, 57430008-57430011, 57430057, 57430060, 57430072-57430105, 57430244-57430246, 57430250, 57430253-57430255, 57430375-57430378, 57430383-57430386
510COL9A3200.392214111922141249205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450631, 61450637-61450644, 61451281-61451334, 61452533-61452568, 61452859-61452882, 61453109-61453124, 61453127, 61453137-61453138, 61453470-61453488, 61453494-61453516, 61453943-61453984, 61455797-61455853, 61456320-61456373, 61457169-61457222, 61457556-61457609, 61458119-61458172, 61458595, 61458608-61458611, 61458615-61458616, 61458640-61458646, 61459275-61459320, 61460116-61460128, 61460152-61460169, 61460275-61460307, 61460314-61460328, 61460824-61460851, 61460980, 61461005-61461033, 61461118-61461171, 61461712-61461765, 61461869-61461940, 61463506-61463541, 61464372-61464389, 61464410-61464416, 61467539-61467550, 61467562-61467563, 61467609-61467611, 61467615, 61467663-61467672, 61468437, 61468463-61468474, 61468511, 61468576-61468603, 61471997, 61472052
511CHRNA4200.0843949044585991725188461978090-61978215, 61981005-61981028, 61981041-61981391, 61981403-61981844, 61981851-61981988, 61982022-61982104, 61982122-61982140, 61982146-61982204, 61982216-61982247, 61982260-61982261, 61982275-61982278, 61982288-61982290, 61982294-61982295, 61982298-61982299, 61982302-61982338, 61982362-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
512KCNQ2200.282932416953041878261962037999-62038026, 62038050-62038089, 62038100-62038134, 62038142-62038155, 62038179-62038214, 62038223-62038457, 62038476-62038634, 62038645-62038649, 62038653, 62038666-62038728, 62039766-62039775, 62039778-62039779, 62039796-62039841, 62039856, 62039861-62039889, 62044854-62044856, 62044865-62044891, 62044930, 62045441, 62045454, 62045457, 62045525-62045532, 62045537-62045539, 62046256, 62046268-62046269, 62046273-62046284, 62046306-62046313, 62046319, 62046322-62046350, 62046355-62046395, 62046421, 62046429-62046456, 62050985-62051025, 62059720-62059729, 62059752-62059755, 62059766-62059788, 62062717, 62065185-62065213, 62065235, 62065256, 62069978-62069985, 62070012-62070013, 62070040-62070053, 62070951-62070993, 62071021-62071029, 62071042, 62071051-62071061, 62073759-62073884, 62076012-62076147, 62076156-62076187, 62076591-62076717, 62078100-62078190, 62103521-62103816
513SOX18200.0640692640692641081115562679519-62679594, 62679604, 62679617-62679662, 62679679-62679683, 62679694-62679695, 62679702, 62679716-62679785, 62679794-62680315, 62680512-62680869
514APP210.9900562040639923231327394182-27394184, 27542896-27542898, 27542902-27542905, 27542908-27542920
515IFNGR2210.9211045364891580101434775850-34775922, 34793881-34793887
516RCAN1210.935441370223984975935987059, 35987081-35987086, 35987173-35987176, 35987204-35987205, 35987209, 35987212, 35987248-35987281
517RUNX1210.9916839916839912144336164461-36164470, 36164609-36164610
518CLDN14210.97272037833282-37833289, 37833514-37833540, 37833565-37833583, 37833809, 37833821, 37833827-37833828, 37833832-37833838, 37833953-37833959
519TMPRSS3210.9794871794871828136543795844-43795863, 43796667-43796674
520CBS210.88647342995169188165644476935-44476969, 44478944-44478951, 44478957-44478996, 44479028-44479044, 44479052-44479078, 44479336, 44479349-44479356, 44479361, 44479378-44479413, 44480565, 44480614-44480616, 44484025-44484026, 44485797, 44488683-44488689, 44488693
521CSTB210.97979797979798629745194623-45194628
522AIRE210.0830280830280831502163845705890-45706012, 45706440-45706614, 45706864-45706921, 45706940-45707005, 45707014-45707016, 45707400-45707474, 45708228-45708233, 45708254-45708341, 45709540-45709548, 45709562-45709664, 45709676-45709685, 45709871-45709951, 45710978-45711015, 45711028-45711041, 45711047, 45711050-45711055, 45711068, 45711074, 45711081-45711091, 45712195-45712284, 45712876-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
523ITGB2210.529004329004331088231046306727-46306731, 46306740-46306749, 46306759-46306778, 46306787-46306805, 46308608-46308810, 46309191-46309278, 46309285-46309315, 46309321-46309410, 46309893-46309923, 46309942-46310137, 46311724-46311769, 46311776-46311799, 46311812-46311821, 46311833-46311835, 46311841-46311842, 46311845-46311864, 46311872-46311875, 46311881-46311911, 46313319-46313339, 46313366-46313401, 46313432-46313443, 46314907, 46314931, 46314938-46314939, 46314972-46314975, 46318987-46318990, 46319053, 46320262, 46320267, 46320270, 46320280, 46320342-46320348, 46320370-46320390, 46321429-46321430, 46321470, 46321486, 46321535-46321561, 46326839-46326868, 46326886-46326904, 46326978-46326980, 46330211-46330232, 46330252-46330287
524COL18A1210.228490028490034062526546875461-46875535, 46875592-46875594, 46875644-46875645, 46875653-46875672, 46875685, 46875694-46875716, 46875728-46875739, 46875751-46875794, 46875810-46875854, 46875868, 46875872, 46875903-46875950, 46875986, 46876057-46876067, 46876083, 46876089, 46876100-46876143, 46876165-46876199, 46876218-46876263, 46876274-46876279, 46876290-46876374, 46876392-46876483, 46876489-46876795, 46888156-46888271, 46888297-46888357, 46888388-46888391, 46888395-46888425, 46888443, 46888484-46888548, 46888556-46888592, 46888610-46888664, 46888673, 46888685, 46893809-46893831, 46893853, 46893867-46893883, 46893895, 46895390-46895403, 46895410, 46895421-46895434, 46895436-46895437, 46895445-46895449, 46896278-46896318, 46896325-46896366, 46897338, 46897360-46897366, 46897376-46897380, 46897397, 46897664-46897669, 46897712, 46897720-46897723, 46897750, 46897766, 46897773-46897788, 46897792, 46897798-46897799, 46897802, 46897835, 46897838-46897840, 46897843-46897849, 46897864, 46897869-46897879, 46899816, 46899819, 46899841-46899878, 46899993-46900029, 46900061-46900070, 46900381-46900392, 46900422-46900434, 46900625, 46900650-46900735, 46900745-46900751, 46900770-46900772, 46901877-46901912, 46901931-46901939, 46902715-46902718, 46902732, 46906775-46906906, 46907361-46907423, 46908332-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929385, 46929391-46929415, 46929424-46929515, 46929978-46930175, 46931025-46931140, 46932102-46932302
525COL6A1210.510851959831551510308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406443-47406599, 47406858-47406986, 47407069-47407088, 47407413-47407433, 47407524-47407568, 47408998-47409016, 47409019-47409020, 47409036-47409039, 47409048-47409051, 47409522-47409566, 47409679-47409690, 47410172-47410198, 47410292-47410336, 47410717-47410740, 47410897-47410939, 47411924-47411952, 47411974-47411986, 47412099-47412114, 47412277-47412312, 47412679-47412689, 47414103-47414125, 47414131-47414143, 47417336-47417377, 47417392-47417397, 47417614-47417631, 47417634, 47417673-47417676, 47418035-47418085, 47418312-47418319, 47418811-47418846, 47419094-47419098, 47419126-47419132, 47419571-47419606, 47420673-47420675, 47421286-47421287, 47421290-47421298, 47422202-47422224, 47422535, 47422540, 47423048-47423051, 47423325-47423328, 47423461, 47423483-47423484, 47423488-47423518, 47423526-47423532, 47423636, 47423702-47423732, 47423820, 47423875-47423876, 47423887-47423893
526COL6A2210.280718954248372201306047531391-47531394, 47531421-47531505, 47531948, 47531983-47532006, 47532028-47532073, 47532131-47532132, 47532156, 47532165-47532185, 47532257, 47532261, 47532285-47532322, 47532342-47532367, 47532385-47532412, 47532420-47532440, 47532465, 47532730, 47533928-47533930, 47533964-47533987, 47535809-47535831, 47535923-47535944, 47535960, 47536301-47536302, 47536306-47536317, 47536565-47536585, 47536591, 47536692-47536726, 47537314-47537361, 47537788-47537814, 47537842-47537850, 47538528-47538544, 47538558-47538590, 47538944-47539033, 47539702-47539764, 47540439, 47540448-47540479, 47540975-47541037, 47541470-47541490, 47541507-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544613, 47544620-47544627, 47544799-47544815, 47544821-47544823, 47544828, 47545180-47545203, 47545379-47545391, 47545417, 47545465-47545477, 47545492, 47545502-47545531, 47545699-47545862, 47545875-47545882, 47545891-47546151, 47546455, 47551868-47552100, 47552109-47552418, 47552428-47552466
527COL6A2210.02631578947368433334247552183-47552418, 47552428-47552524
528FTCD210.0159901599015991600162647556901-47556987, 47557153-47557190, 47557214-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572824-47572949, 47574063-47574246, 47575384-47575437
529PCNT210.977924283288382211001147744156-47744182, 47754421-47754427, 47754460-47754466, 47754499-47754505, 47754538-47754579, 47769062-47769076, 47783825-47783828, 47786594-47786603, 47786660-47786691, 47786708, 47786817-47786823, 47787008-47787015, 47787040-47787054, 47805884-47805892, 47808677-47808680, 47831458, 47841970-47841984, 47848447-47848454, 47848503-47848504
530PRODH220.68219633943428573180318900729, 18900750, 18900795-18900796, 18900875, 18901001-18901037, 18904403-18904419, 18904472, 18905851-18905853, 18905861-18905877, 18905888-18905922, 18905928-18905942, 18905947-18905950, 18907031, 18907036, 18907042-18907048, 18907282-18907311, 18908859-18908861, 18908892-18908927, 18909902, 18910330-18910334, 18910419, 18910428, 18910436, 18910440, 18910631-18910634, 18910647-18910649, 18910679-18910682, 18912572-18912606, 18912639-18912650, 18912671-18912672, 18912678, 18913226, 18918503-18918508, 18918529-18918543, 18918554, 18918570, 18923528-18923735, 18923743-18923800
531GP1BB22062162119711093-19711102, 19711377-19711987
532TBX1220.52016129032258714148819747173-19747175, 19747178-19747182, 19748428-19748710, 19748755-19748761, 19753281-19753306, 19753337-19753348, 19753432-19753525, 19753912-19754012, 19754025-19754051, 19754057-19754074, 19754088-19754123, 19754186-19754228, 19754279-19754329, 19754351, 19754361, 19754368, 19754373-19754375, 19754389-19754390
533SMARCB1220.9179620034542395115824129357-24129372, 24129416-24129435, 24129445-24129449, 24145605-24145609, 24175759-24175786, 24175826-24175845, 24175890
534HPS4220.9928977272727315211226849232-26849246
535CHEK2220.973310618966547176129126410-29126426, 29126449-29126472, 29126531-29126536
536TCN2220.9890965732087214128431011588, 31022447-31022459
537DRG1220.9619565217391342110431796609-31796648, 31796678-31796679
538TIMP3220.99213836477987563633198014-33198017, 33198062
539MYH9220.96430392656808210588336688112-36688129, 36692931-36692932, 36692935, 36692942, 36692947-36692949, 36695079-36695088, 36696188, 36696277-36696297, 36696897, 36696944, 36696948-36696950, 36697580-36697605, 36697692-36697709, 36698632-36698670, 36698708-36698709, 36698713, 36700041-36700045, 36700133, 36700185-36700198, 36701079-36701107, 36702072, 36710209-36710210, 36712701-36712702, 36716376-36716379, 36718551-36718554
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726VLDLR90.984363081617094126222622191-2622228, 2622232, 2622242, 2622270
727KCNV290.998778998779216382717999, 2718405
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738FOXE190.95454545454545511122100616616, 100616686, 100616690-100616731, 100616867-100616873
739TGFBR190.9980158730158731512101867538-101867540
740IKBKAP90.9994998749687423999111689732-111689733
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745ENG90.97066262013151581977130578250-130578260, 130578290-130578293, 130587139-130587143, 130616590-130616623, 130616630-130616633
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748TOR1A90.9989989989991999132586338
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755DBH90.804746494066883621854136505023-136505034, 136507395-136507401, 136512985, 136513120-136513129, 136516756-136516764, 136516766, 136516778-136516781, 136516789-136516839, 136516853, 136516864-136516887, 136516897-136516899, 136517370-136517380, 136517406, 136518114-136518116, 136521645-136521681, 136521691-136521720, 136521741-136521747, 136521760-136521771, 136522231-136522294, 136522310-136522350, 136523487, 136523510-136523513, 136523524-136523547, 136523554-136523556, 136523562
756SARDH90.794341675734495672757136529011-136529018, 136529047-136529077, 136529106-136529131, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550329-136550332, 136550381-136550382, 136555647-136555649, 136559380-136559398, 136559413-136559416, 136573512, 136578177
757COL5A190.7649084647453312975517137534034-137534142, 137582758-137582803, 137582815-137582925, 137591755-137591829, 137591844-137591968, 137593017-137593026, 137593032-137593179, 137619173-137619175, 137620551-137620554, 137620558-137620559, 137620564-137620572, 137620599-137620601, 137620605-137620625, 137622083, 137622100, 137622218-137622222, 137623342-137623343, 137623454-137623487, 137630320-137630357, 137630598, 137630620-137630635, 137642388-137642453, 137642458, 137642676-137642683, 137642696-137642706, 137642717-137642728, 137644435-137644477, 137644490-137644491, 137645696-137645749, 137646138-137646172, 137648618, 137648629-137648656, 137650116-137650122, 137653771-137653786, 137655539-137655540, 137655564-137655583, 137657567-137657580, 137658324, 137658846-137658857, 137659156-137659166, 137660283-137660285, 137664643, 137664660-137664677, 137666716-137666746, 137671979-137671988, 137674513-137674514, 137674517-137674519, 137674557, 137676882-137676887, 137676905, 137676918-137676942, 137677857, 137688220-137688254, 137694793, 137694796-137694804, 137696821-137696824, 137697060, 137701029-137701032, 137703369-137703380, 137705829, 137705840-137705852, 137710536-137710542
758LHX390.603804797353184791209139089187-139089189, 139089202-139089203, 139089219-139089241, 139089257-139089259, 139089274-139089294, 139089307-139089308, 139089316-139089321, 139089464-139089494, 139089530-139089551, 139089577-139089583, 139090551-139090576, 139090589-139090591, 139090607-139090610, 139090754-139090761, 139090767-139090816, 139090825-139090905, 139091527-139091533, 139091558-139091595, 139091659-139091703, 139091716-139091718, 139094792-139094885
759INPP5E90.4149870801033611321935139325454-139325455, 139325500-139325501, 139325504-139325534, 139326276-139326388, 139326394-139326421, 139326932-139326936, 139326992-139327038, 139327414-139327421, 139327436-139327439, 139327502-139327509, 139327608-139327622, 139327669-139327731, 139328489-139328495, 139328581-139328582, 139329193-139329197, 139329206-139329214, 139329254-139329288, 139333060-139333093, 139333116-139333330, 139333336-139333389, 139333398, 139333408-139333792, 139333807-139333859, 139333866-139333871
760NOTCH190.03129890453834174287668139390523-139390690, 139390709-139392010, 139393351-139393415, 139393564-139393568, 139393587-139393682, 139393698-139393702, 139393706-139393711, 139395004-139395299, 139396200-139396365, 139396453-139396540, 139396724-139396866, 139396874-139396940, 139397634-139397650, 139397677-139397782, 139399125-139399230, 139399238-139399331, 139399342-139399395, 139399409-139399503, 139399509-139399556, 139399762-139400072, 139400080-139400333, 139400979-139401091, 139401168-139401425, 139401757-139401889, 139402407-139402457, 139402467-139402473, 139402480-139402565, 139402573-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404298, 139404311-139404332, 139404357-139404413, 139405105-139405235, 139405249-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408962-139408978, 139408986-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
761AGPAT290.25448028673835624837139568209-139568232, 139568243-139568379, 139569197, 139569200-139569240, 139569256-139569259, 139571060, 139571064-139571092, 139571103, 139571106, 139571115, 139571413-139571426, 139571436-139571440, 139571453-139571471, 139571477-139571494, 139571511-139571564, 139571585-139571588, 139571875-139571883, 139571906-139571934, 139571944-139571948, 139571955-139571983, 139571993-139572008, 139581628-139581809
762SLC34A390.15515211800140126155-140126156, 140126170, 140126180-140126199, 140126215-140126230, 140126524-140126559, 140126594-140126613, 140127027-140127155, 140127236-140127283, 140127304-140127308, 140127331-140127379, 140127456-140127495, 140127518-140127532, 140127661-140127696, 140127709-140127856, 140128085-140128171, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129068-140129077, 140129099-140129110, 140129129-140129183, 140130414-140130633, 140130655-140130703, 140130710-140130868
763EHMT190.748781113677199793897140513481-140513501, 140605419-140605420, 140605454-140605457, 140605469-140605482, 140611078-140611634, 140622955-140622966, 140638523-140638524, 140671258, 140672344, 140707506-140707508, 140707847-140707850, 140708885-140708915, 140708928-140708949, 140728801-140728976, 140729225-140729244, 140729271-140729274, 140729283-140729336, 140729355-140729405
764SHOXX0.51535836177474426879591633-591679, 591688-591909, 595353-595393, 595434-595491, 595502-595559
765CSF2RAX0.3287356321839187613051401597-1401610, 1401634, 1401665-1401672, 1404671-1404746, 1404755-1404813, 1407444, 1407449-1407454, 1407474-1407494, 1407682-1407693, 1407696-1407698, 1407758, 1407762-1407768, 1409230-1409332, 1409341-1409402, 1413221-1413222, 1413230-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422820-1422825, 1422834-1422870, 1422893-1422912, 1424355-1424356, 1424361-1424389, 1424400-1424410, 1428305, 1428357
766ARSEX0.99887005649718217702852951, 2852954
767GPR143X0.985882352941181812759733737-9733740, 9733768-9733778, 9733790-9733792
768SMSX0.9845594913714817110121958943-21958953, 21958957-21958958, 21958971-21958974
769ARXX0.89165186500888183168925031421-25031443, 25031488-25031492, 25031529-25031534, 25031565-25031597, 25031636-25031669, 25031676, 25031680-25031684, 25031688-25031702, 25031715, 25031760-25031773, 25031776-25031779, 25031782, 25031785, 25031788, 25031794, 25031797, 25031800-25031812, 25031823-25031828, 25031881-25031898
770RPGRX0.78779994217982734345938144827-38144836, 38144847, 38144858, 38144861-38144878, 38144994-38144998, 38145038, 38145051, 38145054-38145066, 38145079-38145102, 38145152-38145170, 38145178, 38145181, 38145194, 38145197-38145231, 38145257-38145259, 38145264-38145267, 38145278-38145753, 38145775-38145817, 38145847-38145893, 38145923-38145931, 38145975-38145983, 38147235-38147241, 38169931-38169935
771NYXX0.89142461964039157144641332809, 41332860-41332865, 41333057-41333067, 41333248, 41333254, 41333265-41333272, 41333287-41333330, 41333357-41333390, 41333436-41333438, 41333504-41333529, 41333536-41333545, 41333549-41333550, 41333946-41333955
772CACNA1FX0.998651836872268593449067134-49067141
773FOXP3X0.9915123456790111129649110507-49110508, 49114818-49114821, 49114887, 49114890, 49114894-49114896
774ARX0.9952949692363413276366765159-66765168, 66766357-66766359
775TAF1X0.9950721576909528568270586194-70586221
776PCDH19X0.95946763460375134330699661611-99661616, 99661682-99661697, 99662302-99662306, 99662517, 99662915-99662919, 99663154-99663158, 99663172-99663173, 99663313-99663316, 99663360-99663363, 99663366, 99663374-99663393, 99663503-99663516, 99663544-99663594
777GPC3X0.9982788296041331743133119428-133119430
778SOX3X0.97688292319165311341139586145-139586151, 139586157-139586159, 139586488-139586490, 139586495-139586500, 139586503-139586514
779FAM58AX0.991836734693886735152864516-152864521
780SLC6A8X0.888888888888892121908152954030-152954069, 152954078-152954170, 152954176-152954183, 152954191-152954232, 152954263-152954285, 152959464, 152960020-152960024
781ABCD1X0.95442359249331022238152990908-152990925, 152990958-152990962, 152991055-152991057, 152991185-152991186, 152991254-152991260, 152991400-152991436, 152991447-152991448, 152991451-152991471, 153009111-153009117
782L1CAMX0.97986221515633763774153135555-153135556, 153135847-153135870, 153135883, 153135886, 153136397, 153136576-153136588, 153141234-153141267
783MECP2X0.96526386105544521497153363071-153363122
784OPN1MWX0.9990867579908711095153455598
785OPN1MWX0.9990867579908711095153492716
786FLNAX0.892875125881178517944153577381-153577399, 153577737-153577738, 153577774-153577779, 153577784, 153577800-153577801, 153577813, 153578449-153578452, 153580315, 153580324-153580343, 153580602, 153580621, 153580633, 153580694-153580695, 153580735-153580755, 153580767-153580768, 153580933-153580938, 153580951-153580954, 153580963-153580966, 153581286-153581288, 153581408, 153581469-153581495, 153581503-153581522, 153581698-153581701, 153581774-153581777, 153581787-153581788, 153581809-153581814, 153581968-153581984, 153582290-153582299, 153582992-153582999, 153583025, 153583028-153583033, 153583334-153583342, 153583407-153583408, 153585802-153585825, 153586568-153586582, 153586691-153586696, 153587433-153587435, 153587438, 153587628-153587654, 153587890-153587897, 153587955-153587960, 153588108-153588129, 153588151-153588185, 153588234-153588264, 153588489-153588497, 153588550-153588569, 153588640-153588646, 153588834, 153588846-153588884, 153588915-153588933, 153589688-153589701, 153589896-153589898, 153590128-153590134, 153590441-153590484, 153590610-153590615, 153590872-153590882, 153590939-153590945, 153591101-153591105, 153592443-153592449, 153593717, 153593784-153593796, 153594397-153594404, 153594505, 153594508-153594513, 153594518-153594534, 153594827, 153595100-153595112, 153596210-153596221, 153596232-153596234, 153596248-153596267, 153599277-153599301, 153599395-153599397, 153599400-153599408, 153599442-153599464, 153599497-153599597
787EMDX0.9803921568627515765153608694-153608708
788TAZX0.8833967046894892789153640181-153640195, 153640224, 153640237-153640256, 153640265-153640289, 153640423-153640435, 153640477-153640482, 153640549-153640551, 153641547-153641554, 153641872
789GDI1X0.9672619047619441344153665641-153665645, 153666873-153666878, 153666888, 153666974-153666976, 153668375-153668381, 153668478-153668481, 153670127, 153670601-153670602, 153670921-153670935
790G6PDX0.98901098901099181638153760296-153760305, 153760606-153760612, 153775030
791USP9YY0.999217527386546766814847629-14847633, 14847636
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3APOE-C130Rhet unknown0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
2.5KCNE3-R83Hhet unknown0.005Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
2MLH3-S845Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
2MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2MLH3-V741Fhet unknown0.023Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
2MLH3-K231Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.07 (benign), Testable gene in GeneTests with associated GeneReview
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), 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-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-H1923Rhet unknown0.028Unknown
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-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
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
2FECH-G55Chet unknown0.018Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5NOD2-G908Rhet unknown0.011Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.508 (possibly damaging), Testable gene in GeneTests
1.5KRT5-G138Ehet unknown0.052Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.125SERPINA1-E288Vhet unknown0.030Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1RPGRIP1L-R744Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-I493Thomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-L270Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
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
1ADRB2-G16Rhomozygous0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
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-A68Vhet unknown0.354Unknown
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-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
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-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
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-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CD3G-V131Fhomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
1B3GNT6-A191Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EFHC1-R182Hhomozygous0.044Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.038 (benign), 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
1ATP6V0A2-A813Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PKD2-R28Phomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-R722Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-T1410Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYP2B6-R22Chet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.639 (possibly damaging)
1AK124052-A117ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CASR-R990Ghet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
1CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-G130GGFGGGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1LARS2-H324Qhomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging)
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSA-R496Hhet unknown0.055Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
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
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1PGAM4-R86Hhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHM-S89ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-N3199Dhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-T3115Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-L2886Fhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1HRNR-A2022Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1USP21-G321Dhomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DPYD-S534Nhet unknown0.016Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KDM5D-W948*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.75CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.625NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625NOTCH3-T211Shifthet 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
0.5COL1A1-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-H1728Rhet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BZRAP1-A1140Phet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-Q817Rhet unknown0.145Unknown
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
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRR15L-R14Qhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SOST-V10Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR1D1-N344Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5NACA2-V9Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA4-H423Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5CCDC40-L752Phet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5ARSG-T236Shet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5ARSG-W274Rhet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ARSG-R398Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MRM1-C120Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5PLCG2-E619Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLCG2-H701Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNE-G18Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-R2804Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520LEREKAERERLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ETV3L-M318Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.761 (possibly damaging)
0.5ETV3L-G263Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5S100A7A-R23Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5CDH11-S373Ahomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH11-V347Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CDH11-T255Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5LCT-N1639Shet unknown0.612Unknown
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
0.5KIF1C-P700Lhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5KIF1C-S1022Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S15Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5KCNJ12-R43Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.5KCNJ12-E56Ahet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly 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-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly 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)
0.5OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5MYO19-L863Fhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO19-N176Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0.5MYH3-T1313Ihet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1192Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-Q420Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NLRP1-M1184Vhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP1-V1059Mhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5NLRP1-V939Mhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5AIPL1-D90Hhomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTF2-K167Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5TTF2-R838Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFB-T245Mhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-AS559PPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIGLEC12-R528Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5SIGLEC12-Y494Shet unknown0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC12-H217Qhet unknown0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SIGLEC12-A66Shifthet unknown0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5SIGLEC12-Q29*het unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5TNFRSF1B-M196Rhomozygous0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5TNFRSF1B-E232Khomozygous0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-R162Khet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLA2G4C-S203Phet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4C-P151Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-G244Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DYSF-E489Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHA4-I37Vhet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLEKHA4-S20Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5FPR1-E346Ahomozygous0.799Unknown
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-R190Whet unknown0.113Unknown
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
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5HS1BP3-A388Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HS1BP3-P348Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5HS1BP3-V260Mhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASZ1-R78Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5ZBTB48-S675Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.711 (possibly damaging)
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
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5AGRN-C901*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5AGRN-VT2034EPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAIR2-R76*het unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TNNT1-E12Ghet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTRA2-A141Shet unknown0.017Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNMT1-R69Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5VWA3B-R181Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5VWA3B-I513Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
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
0.5KCNJ10-R18Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.5SFPQ-A348Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SFPQ-I347Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SFPQ-E346Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CNDP1-L20LLLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CNDP1-R22Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.311 (possibly damaging)
0.5CNDP1-I113Vhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DSG2-R773Khomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (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-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5CNKSR1-P284Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IRGC-D135Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
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
0.5PRAMEF2-I204Mhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRAMEF2-E211*het unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PADI4-G55Shet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PADI4-V82Ahet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PADI4-G112Ahet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.077 (benign)
0.5PADI4-R131Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5PADI4-Y309Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging)
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
0.5LRRC25-P294Shet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5LRRC25-C285Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ZNF781-T97Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-C178Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRSS21-P186Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRIM64-R162Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-R1367Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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)
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5NPAT-N1216Dhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NPAT-N999Khet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPAT-L540Fhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAD52-Y415*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
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
0.5ALG9-V289Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLAT-V318Ahomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-D451Nhomozygous0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-C840Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYLS1-C31Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5MS4A5-G51Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CDHR1-P812Shet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BMPR1A-P2Thomozygous0.393Unknown
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
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
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-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-G892Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-R476*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNPAT-D519Ghomozygous0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), 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
0.5EHF-A96Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARFGAP2-R406Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5HPS5-T1098Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MKI67-K3217Ehet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-T3150Shet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-T2868Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MKI67-R2786Qhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.969 (probably damaging)
0.5MKI67-P2608Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-N2363Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-E1403Vhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5MKI67-L1166Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MKI67-G1042Shet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.265 (possibly damaging)
0.5MKI67-R123Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MKI67-N104Shet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-T25Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5INSC-D329Nhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5MICAL2-Y636Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5TRPM1-H1498Qhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRPM1-E1375*het unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5TRPM1-S32Nhet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AVEN-E243Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5MGA-P628Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-T716Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-P1523Ahet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAGEL2-L448Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-G1774Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), 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
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPA33-V119Fhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CREBBP-L551Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCC6-Q1111Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-WQ445CLhet unknownUnknown
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
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HERC1-E3722Dhomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HERC1-S3152Fhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5HERC1-G1696Ahomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-S195Lhomozygous0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GOLGA3-K1185Rhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5GOLGA3-P264Lhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5GOLGA3-G70Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LATS2-E1016Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5KNTC1-H748Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-S5Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-Q3793Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-Q3793Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT1-K633Rhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-G292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (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
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTAGE5-V6Ahomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTAGE5-E360Qhet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CTAGE5-R715Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CTAGE5-G738Rhet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-P276Rhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARL11-P131Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.895 (probably damaging)
0.5COL4A1-P1259Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1447Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNG6-C252Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BMP2K-A58Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BMP2K-T1002Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NQO2-L47Fhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NQO2-G58Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V651Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.193Unknown
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
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SCN9A-W1150Rhet unknown0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-P610Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MRS2-P412Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D89Vhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q85Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G77Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF6-W719Rhomozygous0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KIF6-R512Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
0.5PEX6-P939Qhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5TNXB-R2597Qhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2495Shet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.143Unknown
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
0.5TNXB-S921Ahet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-A237Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-H-D19Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARAP3-P185Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TNIP3-E208Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNIP3-K99Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA1109-R2222Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HSPA4L-L211Shet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA4L-I601Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENPEP-Q213Rhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENPEP-V218Ahet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENPEP-W413*het unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC10A6-I114Vhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5SLC10A6-S6Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TET2-P29Rhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-V12Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (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
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-H1381Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5WDR41-R441Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5WDR41-V329Ihomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-G53Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-Y629Fhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SDHA-E72Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-Q65Rhet 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
0.5DNAH5-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-L2862Fhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.393Unknown
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
0.5IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-R661Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFKBIE-V194Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NFKBIE-P175Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFNA16-IA132TPhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA16-T124Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA16-D95Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.726 (possibly damaging)
0.5IFNA16-V65Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA17-N118Dhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA17-H57Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC26A7-I215Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CNGB3-E755Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
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
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HR-R620Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRKDC-I3433Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRKDC-CF1311WIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRKDC-M333Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCA1-K1587Rhet unknown0.582Unknown
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
0.5DFNB31-H752Qhomozygous0.994Unknown
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
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CIZ1-R847Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMT1-V305Ihet unknown0.036Unknown
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
0.5POMT1-G482Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-R7Whet unknown0.099Unknown
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
0.5REXO4-T283Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5REXO4-R141Khet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FIG4-M364Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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)
0.5LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-V1138Mhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-G1584Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHG1-V1071Ahet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLEKHG1-G1081Ehet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLEKHG1-L1321Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SNORA33-L92Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5AARS2-V730Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AARS2-I339Vhomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-T579Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL17F-V155Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.564 (possibly damaging)
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MDH2-K301Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM200A-R118Phet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5TRIP6-R111Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBDS-I212Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC36A3-R190Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.371 (possibly damaging)
0.5SLC36A3-K167Ehet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CP-T551Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.915 (probably damaging)
0.5CP-E544Dhomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-A1194Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.078 (benign), Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-S2191Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5GBE1-T507Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A8-R664Qhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5SLC12A8-I281Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SLC12A8-P266Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-R181Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM194A-R549Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM194A-L426Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NDUFV3-D415Nhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5UBASH3A-S18Ghet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5TMPRSS3-A90Thet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), 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-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CABIN1-D225Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CABIN1-R660Shet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CABIN1-Q921Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XPC-Q939Khomozygous0.643Unknown
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-L48Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNRK-P391Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5XIRP1-A1608Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP1-Q754Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5XIRP1-Q346Rhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM43-K168Nhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KBTBD8-F179Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
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-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TCN2-R215Whet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests
0.5TCN2-R259Phomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ISX-S28Ghomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-R83Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-Q2223Phet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIOBP-T195Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-A660Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-Q702Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-I94Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WFS1-R818Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF217-R903Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF217-D889Ghet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.972 (probably damaging)
0.5ZNF217-V739Ihet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.994Unknown
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
0.5FASTKD1-R803Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FASTKD1-M467Vhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R19629Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18432Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K7081Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC2A9-R294Hhomozygous0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5SLC2A9-G25Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CC2D2A-E229Delhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLCN2-E718Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN2-R688Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5FERMT1-V241Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK057553-R31Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-C32Yhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G38Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK057553-A40Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-A46Ehet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCF3-P503Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.554 (possibly damaging)
0.5IDUA-V172Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IDUA-AA211SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSRP2BP-V400Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
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
0.375OTOF-V906Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375SLC3A1-T189Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.375FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FMO3-G180Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.375ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-QLP282PLThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STXBP2-A433Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-T1566Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QRhet 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
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WRN-R369*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25WRN-C1367Rhomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ASAH1-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
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANK2-P2835Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HMCN1-I2418Thet unknown0.525Unknown
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
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), 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
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DUSP28-CV48WLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DUSP28-D73Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD16-Q353Rhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25ANKRD16-L91Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASPSCR1-L252Qhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASPSCR1-G254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
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
0.25ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-N226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKRD30A-E110*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ANKRD30A-K861Nhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-V912Ihet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-R929Chet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.385 (possibly damaging)
0.25ANKRD30A-I999Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HHLA1-L390Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HHLA1-T193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-M1Thet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC45A1-N65Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC45A1-P314Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRP2-C4381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRP2-A2872Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PLEKHG5-A470Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLEKHG5-T294Shet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLEKHG5-LPSG284CPSRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZBTB4-M550Ihet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZBTB4-A5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCHH-K1902Qhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHH-L1258Vhet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHH-L790Mhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHH-D206Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EVC2-T699Ahomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25EVC2-T455Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
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
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (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
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR114-W204Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR114-P206Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EIF4H-M180Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EIF4H-E248Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT83-H493Yhet unknown0.751Unknown
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
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CDC37-R92Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDC37-A88Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25ID1-L53Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ID1-L57Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C5orf20-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
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MLC1-C171Fhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.25MLXIP-D414Nhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.665 (possibly damaging)
0.25MLXIP-I484Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLXIP-F580Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLXIP-Q606Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ING1-L125Rhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ING1-L130Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25STAB1-M84Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STAB1-I2282Vhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25HGS-S70*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25HGS-EVANKQ82DVANKRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MSX2-M129Thet unknown0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25PDZRN3-A783Vhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.25PDZRN3-G153Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO10-S1663Thet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO10-S1226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO10-R324Whomozygous0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C7orf71-G40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C7orf71-G96Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SS18L1-MQ181SLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SS18L1-Y338Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SS18L1-QQ379HGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRR12-R1583Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRR12-L1888Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FER1L4-K526Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L4-G305Rhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L4-E242Dhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L4-V182Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC6-PY1919HShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC6-P1897Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC6-E726Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KNDC1-E430Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KNDC1-E436Ghet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KNDC1-T644Phet 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
0.25MMP9-L187Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phet unknown0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK296854-H6RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK296854-W116RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK296854-R120Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25CDC42BPB-E22Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDC42BPB-W19Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AHNAK2-P5397Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.149 (benign)
0.25AHNAK2-M4536Lhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.267 (possibly damaging)
0.25AHNAK2-Q726Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRWD1-M2225Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BRWD1-L1699Phomozygous0.946Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRWD1-Q83Ehet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.503 (possibly damaging)
0.25AX747192-G213Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AX747192-Q211Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0MPO-M251Thet unknown0.009Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0HPS1-M325Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PRODH-R431Hhet unknown0.080Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,739,439,972 bases (95.9% of callable positions, 88.9% of total positions)

Coding region coverage: 30,979,829 bases (93.1% of all genes, 94.1% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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