hu9D3638 - GET-Evidence variant report

Variant report for hu9D3638

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CBS-I278THighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00288158This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.1
2C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Homozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
3COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
4MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
5PIGR-A580VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.247537In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.1
6KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).1
7AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
8APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
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
10TGIF1-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
11BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
12SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
13CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
14ERCC6-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
15H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
16TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
17DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
18rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
19FUT2-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
20IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
21KCNJ11-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
22PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.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-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
25FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
26CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
27MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
28GFAP-D295NLowUncertainUncertain benign

Unknown, Heterozygous
0.0333767Reported as a nonpathogenic polymorphism.1
29RNASEH2B-I309ShiftLowUncertainUncertain benign

Unknown, Heterozygous
0.0234375This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign.1
30APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
31AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
32KRT85-R78HLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.042466Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.1
33RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
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
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
36SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30038919 / 33282720 = 90.25%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.06663408276311557296138955553-955753, 957581-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976976, 976990-977082, 977336-977542, 978619-978664, 978681-978837, 978918-978982, 979001-979112, 979203-979403, 979489-979546, 979573-979637, 979714-979819, 980553, 980556-980585, 980594-980657, 980739-980822, 980833-980903, 981113-981120, 981132-981256, 981344-981442, 981456-981468, 981540-981645, 981777-982115, 982200-982337, 982707-982834, 982953-983056, 983066-983067, 983156-983275, 983392-983745, 984247-984439, 984616-984831, 984946-985175, 985283-985361, 985369-985417, 985613-985624, 985640, 985646-985661, 985671-985709, 985807-985891, 985899-985954, 985965-985967, 986106-986217, 986633-986749, 986833-986987, 987001-987025, 987108-987195, 989133-989146, 989153-989155, 989169, 989175-989242, 989271-989299, 989308, 989311-989324, 989335-989357, 989861, 989870-989908, 990225-990247, 990271-990315, 990337-990361
2GABRD10.071376011773363126213591950863-1950930, 1956407-1956493, 1956773-1956840, 1956957-1957177, 1959016-1959098, 1959600, 1959604-1959656, 1959695-1959731, 1960550-1960705, 1960990-1961085, 1961099-1961155, 1961167-1961201, 1961422-1961721
3PEX1010.45259938837925379812337205-2337212, 2337220-2337273, 2337923-2338001, 2338008-2338050, 2338159-2338164, 2338174-2338203, 2338217, 2338259-2338334, 2339891-2339900, 2339941, 2339990-2340018, 2340021-2340046, 2340087-2340090, 2340116, 2340122, 2340150-2340159, 2340169, 2340180, 2340196-2340220, 2340225-2340229, 2340234, 2340268-2340272, 2341817, 2341858-2341864, 2343830-2343941
4NPHP410.8586778790002360542815923325-5923328, 5923973-5923975, 5923979, 5924444-5924459, 5924561-5924563, 5925189, 5925271-5925272, 5925285, 5925290, 5925315-5925333, 5927103, 5934586, 5934646, 5934655-5934656, 5934672-5934674, 5934959, 5935034-5935077, 5935099-5935107, 5935137-5935160, 5937256, 5937259-5937265, 5937276-5937279, 5940189, 5947362-5947373, 5947379-5947383, 5947391-5947406, 5947408-5947410, 5947417, 5947422-5947452, 5947468, 5947481-5947505, 5950928-5950992, 5951012-5951045, 5951068-5951078, 5951085-5951088, 6027362-6027363, 6027401-6027407, 6029150-6029155, 6029183, 6029189-6029198, 6029255-6029257, 6029292, 6029307, 6038330-6038473, 6046265-6046313, 6046323-6046345
5ESPN10.618713450292497825656485016-6485309, 6488289-6488297, 6488304-6488305, 6488322-6488337, 6488376-6488401, 6488418-6488432, 6500402-6500472, 6500482-6500490, 6500686-6500695, 6500704, 6500711-6500718, 6500726, 6500743-6500799, 6500802-6500807, 6500820-6500868, 6501007-6501014, 6501029-6501076, 6505732-6505755, 6505848-6505861, 6505888-6505937, 6508702-6508704, 6508710-6508717, 6508730, 6508760-6508785, 6508809-6508837, 6508861-6508893, 6508911-6508928, 6508983, 6509033-6509074, 6509083, 6509103, 6511731-6511741, 6511910, 6512044-6512075, 6512106-6512148, 6520063, 6520070, 6520073, 6520151, 6520167, 6520188-6520191, 6520202
6PLEKHG510.6186892442772121631896527885-6527906, 6527974, 6527984-6527990, 6528032-6528036, 6528059-6528100, 6528118-6528135, 6528137-6528146, 6528150-6528154, 6528166, 6528181-6528205, 6528210, 6528235-6528236, 6528294, 6528324-6528343, 6528401-6528404, 6528501-6528532, 6529173-6529239, 6529253-6529257, 6529259-6529281, 6529295, 6529410-6529413, 6529443, 6529446-6529449, 6529604-6529632, 6529659-6529661, 6529698-6529701, 6529714-6529736, 6530333-6530357, 6530378-6530415, 6530580, 6530612-6530645, 6530657, 6530681-6530700, 6530810-6530856, 6530864-6530926, 6530936-6530944, 6531084-6531106, 6531594-6531599, 6531606, 6531624-6531664, 6531682-6531697, 6531837, 6532596-6532606, 6532616-6532642, 6532650-6532656, 6532659-6532667, 6532670-6532672, 6532676, 6533096-6533125, 6533155-6533157, 6533161, 6533175-6533177, 6533325-6533356, 6533405-6533418, 6533472, 6534082-6534112, 6534116, 6534120-6534127, 6534135, 6534139, 6534167, 6534181-6534192, 6534197, 6534511-6534568, 6534585-6534591, 6534614-6534647, 6535107-6535135, 6535162, 6535172-6535177, 6535186-6535198, 6535522-6535560, 6535581-6535582, 6536042-6536048, 6536057-6536058, 6537601-6537602, 6537618-6537663, 6537687, 6537692-6537695, 6556553-6556629, 6557380-6557383
7PEX1410.4620811287478610113410678429-10678433, 10683077, 10683087, 10683109-10683113, 10683118-10683119, 10683148, 10684397-10684494, 10687329-10687330, 10687347-10687349, 10687355-10687372, 10687397-10687420, 10689588-10689630, 10689638-10690044
8TARDBP10.89236947791165134124511078790-11078804, 11078884-11078887, 11080553, 11082243-11082264, 11082339-11082362, 11082530, 11082576-11082605, 11082630-11082666
9MASP210.496360989810771038206111086942-11086952, 11087266, 11090828-11090842, 11090932-11090939, 11094885-11094913, 11094921-11094922, 11094937, 11097750-11097868, 11102932-11103079, 11103396-11103592, 11105465-11105555, 11105562-11105596, 11106613-11106638, 11106657-11106790, 11106948-11107015, 11107029-11107176, 11107260-11107264
10MTHFR10.91730086250634163197111853970-11853976, 11853987-11853988, 11853992, 11854001, 11854091-11854108, 11854121, 11854418, 11854492-11854526, 11854536, 11854786-11854816, 11854840-11854861, 11854901, 11855264-11855277, 11855372-11855374, 11855377-11855378, 11855384-11855385, 11855391, 11855398-11855402, 11856280, 11856352, 11860313, 11861311, 11861315, 11862969-11862974, 11863111-11863114
11PLOD110.92307692307692168218411994878, 11994907, 11994912, 12009846, 12009903, 12009908, 12009913, 12010497-12010532, 12014920, 12023678-12023693, 12024337-12024342, 12024347, 12024711, 12024780-12024788, 12024830-12024842, 12026308-12026309, 12026338, 12026344, 12027060-12027067, 12030751-12030780, 12030821-12030826, 12030838-12030856, 12030864, 12033040, 12034787-12034788, 12034846-12034850, 12034863-12034864
12MFN210.999120492524192227412049340, 12062104
13CLCNKA10.440406976744191155206416349115-16349119, 16349136-16349138, 16349158-16349187, 16350352-16350359, 16350409, 16351263-16351279, 16351319, 16351348-16351352, 16351372-16351378, 16351385, 16353031-16353038, 16353088-16353094, 16353221-16353244, 16353833-16353871, 16353886-16353926, 16354318-16354323, 16354355, 16354364-16354366, 16354370, 16354394, 16354513, 16355256-16355307, 16355313-16355340, 16355621-16355699, 16355706-16355757, 16355790-16355794, 16356226-16356295, 16356460-16356463, 16356468-16356469, 16356493-16356544, 16356551-16356570, 16356956-16357079, 16357095-16357101, 16357113-16357169, 16358205-16358338, 16358698-16358786, 16358938-16359021, 16359665-16359717, 16359748-16359751, 16360106-16360114, 16360121-16360127, 16360141-16360153
14CLCNKB10.56928294573643889206416370989-16370992, 16371027, 16371036, 16371038, 16371051, 16371054-16371058, 16371067, 16371073, 16372092-16372101, 16372134-16372170, 16373044-16373067, 16373079-16373085, 16373121, 16374463-16374487, 16374501, 16374513-16374520, 16374874, 16374902, 16375028-16375029, 16375038-16375040, 16375052-16375077, 16375721, 16375733, 16376167, 16376171, 16377014-16377077, 16377083-16377095, 16377370-16377407, 16377458-16377492, 16377503, 16377506, 16377973-16378020, 16378029, 16378205-16378247, 16378268, 16378272-16378315, 16378693-16378707, 16378713-16378720, 16378731, 16378740-16378839, 16378846-16378899, 16378903-16378904, 16380134-16380223, 16380233-16380235, 16380238, 16380243-16380267, 16381930-16381943, 16381956-16382005, 16382170-16382208, 16382239-16382253, 16382918, 16382977, 16383364, 16383397-16383411
15ATP13A210.590742308777871450354317312716-17312846, 17312958, 17312992, 17313038-17313063, 17313104-17313108, 17313118, 17313316-17313319, 17313323, 17313373-17313409, 17313541-17313576, 17313585-17313696, 17314643, 17314695-17314697, 17314817-17314842, 17314884-17314912, 17314930-17314969, 17316193, 17316426, 17316430-17316432, 17316664-17316674, 17316708, 17316781-17316782, 17318229-17318243, 17318253-17318256, 17318259-17318260, 17318264-17318266, 17318280, 17318291-17318353, 17318553, 17318565-17318567, 17318620-17318624, 17318744-17318767, 17318788-17318794, 17318838-17318869, 17318981-17319016, 17319044-17319075, 17320124-17320125, 17320159, 17320163, 17320215, 17320257-17320323, 17322471-17322529, 17322535-17322659, 17322759-17322760, 17322784-17322795, 17322881-17322936, 17322949-17322991, 17323516-17323591, 17323612-17323670, 17326508, 17326511-17326513, 17326523-17326527, 17326536-17326637, 17326763-17326784, 17326798, 17326923, 17326975-17326985, 17328542-17328598, 17328791-17328804, 17328846, 17331234-17331238, 17331273-17331276, 17332225-17332226, 17332266-17332273, 17338226-17338233
16SDHB10.984578884934761384317349149, 17371289-17371300
17ALDH4A110.84042553191489270169219199347-19199350, 19199353-19199369, 19199375, 19199381-19199384, 19201956, 19202891, 19202895-19202898, 19202913, 19202917, 19202932-19202936, 19203938, 19203971, 19204032-19204037, 19205812, 19208204, 19208251-19208283, 19208330-19208345, 19208348, 19209618-19209619, 19209649-19209661, 19209777-19209836, 19209860-19209879, 19209883-19209903, 19209907-19209912, 19211970, 19211983-19212005, 19212011-19212023, 19215902-19215903, 19215929-19215935, 19215941-19215943
18ALPL10.92190476190476123157521887156-21887159, 21887169, 21887228, 21887590-21887609, 21887673-21887674, 21887677-21887679, 21889646-21889647, 21889763-21889773, 21890579, 21890582-21890584, 21890609-21890617, 21890682-21890684, 21894689-21894692, 21894727-21894740, 21896798-21896811, 21896864-21896867, 21902378, 21903888-21903913
19HSPG210.5727838494231956291317622149809-22149864, 22149870-22149981, 22150116-22150212, 22150614-22150622, 22150661-22150676, 22150697, 22150804-22150814, 22150828-22150834, 22150840-22150850, 22150854, 22151030-22151108, 22151197-22151223, 22151236-22151272, 22154365, 22154384-22154412, 22154523-22154537, 22154546-22154599, 22154626-22154645, 22154748-22154769, 22154781-22154795, 22154803, 22154832-22154853, 22154897-22154919, 22155328-22155382, 22155408-22155511, 22155517-22155572, 22155922-22155930, 22155965-22156026, 22156066-22156097, 22156491-22156507, 22156530-22156584, 22157475-22157484, 22157520, 22157541-22157569, 22157975, 22157979, 22157982, 22157989, 22158007, 22158203-22158229, 22158284, 22159007-22159036, 22159081-22159099, 22159961, 22161187-22161189, 22161193, 22161196, 22161202, 22161416, 22161421, 22163329, 22163339, 22163376-22163414, 22163433, 22163446-22163448, 22163458, 22165345, 22165349-22165358, 22165368, 22165404-22165410, 22165422, 22165432, 22165440, 22165444-22165472, 22165493-22165494, 22165905-22165937, 22165987, 22166315, 22166359-22166366, 22166373, 22167594-22167630, 22167640-22167664, 22167678-22167694, 22167716-22167726, 22167731-22167747, 22167751-22167761, 22167768-22167778, 22168032-22168079, 22168096-22168166, 22168495-22168536, 22168550-22168551, 22168561, 22168573-22168597, 22168611-22168633, 22168827-22168863, 22169275-22169276, 22169288-22169303, 22169315, 22169355-22169396, 22169413, 22169811-22169832, 22169847, 22169878-22169884, 22169903, 22169910-22169927, 22170652-22170658, 22170662, 22170692-22170694, 22170701, 22170704, 22170785-22170792, 22172613, 22172616-22172617, 22172626-22172644, 22172668-22172719, 22172733, 22172737-22172748, 22172941-22172965, 22172977, 22172982-22173010, 22173026-22173043, 22173060-22173092, 22173847-22173851, 22173874-22173875, 22173886-22173895, 22173900-22173903, 22173931-22173935, 22173940, 22173944-22173946, 22173949-22173985, 22174193-22174222, 22174232-22174239, 22174278-22174281, 22174285, 22174295-22174298, 22174311-22174331, 22174451-22174467, 22174477-22174586, 22175141-22175167, 22175176, 22175202, 22175212-22175218, 22175223, 22175244-22175287, 22175386-22175420, 22175444, 22175448-22175449, 22175461-22175505, 22176534-22176561, 22176636-22176681, 22176873-22176892, 22176915-22176966, 22176972-22176974, 22178039-22178062, 22178073, 22178085-22178092, 22178096, 22178099, 22178110, 22178144-22178166, 22178179, 22178309-22178339, 22178356-22178364, 22178375-22178382, 22178390-22178419, 22178581-22178610, 22178621-22178716, 22179193-22179221, 22179250-22179276, 22179311-22179325, 22179412-22179449, 22179515-22179541, 22180686, 22180731-22180735, 22180766, 22180781-22180785, 22180807, 22180821-22180836, 22181104-22181108, 22181119-22181163, 22181187-22181203, 22181210-22181237, 22181248-22181258, 22181341-22181344, 22181372, 22181376-22181475, 22181797-22181805, 22181832-22181839, 22182021-22182072, 22182113-22182120, 22182150-22182153, 22182158-22182159, 22182290-22182293, 22182343-22182384, 22183510-22183530, 22183582-22183597, 22183604-22183612, 22183623-22183634, 22183799, 22183804-22183811, 22183814, 22183817-22183826, 22183830-22183839, 22183850-22183855, 22183861, 22183872-22183874, 22183878, 22186059-22186169, 22186328-22186365, 22186380-22186495, 22186670-22186676, 22186696-22186720, 22188250-22188275, 22188287, 22188314-22188336, 22188486-22188524, 22188530-22188575, 22188583, 22188586-22188608, 22190593-22190624, 22190669, 22190684-22190701, 22191336-22191342, 22191350-22191396, 22191411, 22191442-22191449, 22191484-22191495, 22191499, 22191504-22191505, 22191530-22191566, 22191778-22191858, 22192210-22192288, 22198679-22198698, 22198704-22198722, 22198741-22198768, 22198785, 22198798, 22198811-22198870, 22199113-22199148, 22199150-22199151, 22199163-22199197, 22199229-22199238, 22199490-22199584, 22199868-22199888, 22199893, 22200424-22200425, 22200445-22200489, 22200502-22200504, 22200899-22200916, 22200939-22200943, 22200977-22200991, 22200994-22200996, 22201111-22201117, 22201158-22201159, 22201389, 22201437, 22202135-22202159, 22202201, 22202204, 22202220-22202240, 22202356-22202371, 22202375, 22202409, 22202420-22202445, 22202461-22202483, 22202508, 22202511-22202532, 22202741-22202744, 22202771-22202778, 22202787, 22202819-22202863, 22202877-22202883, 22203033-22203037, 22203040-22203053, 22204693-22204694, 22204955, 22204962-22204965, 22205140, 22205145-22205152, 22205487-22205528, 22206600-22206608, 22206642-22206649, 22206675, 22206678, 22206681-22206688, 22206710-22206725, 22206741-22206747, 22206868-22206891, 22206911-22206915, 22206930, 22206969, 22206982, 22207018-22207040, 22207150, 22207163-22207170, 22207180, 22207192, 22207198-22207202, 22207206-22207207, 22207243-22207248, 22207250, 22207254-22207270, 22207286-22207324, 22207845, 22207887, 22207924, 22207929-22207934, 22207937, 22207983-22207986, 22211041, 22211093, 22211096-22211099, 22211110-22211112, 22211152-22211167, 22211260-22211278, 22211307, 22211338-22211397, 22211508-22211540, 22211596-22211599, 22211624-22211631, 22211813-22211820, 22211848-22211869, 22211879, 22211893-22211932, 22211943-22211944, 22213708-22213743, 22213786-22213806, 22213920-22213921, 22213945, 22213965-22213997, 22214016-22214018, 22214125-22214127, 22214151, 22214458-22214464, 22216524-22216560, 22216633-22216634, 22216920-22216930, 22216957, 22216974, 22217078-22217087, 22217108, 22217132-22217135, 22263648-22263710
20WNT410.80397727272727207105622446717-22446725, 22447950, 22448000-22448005, 22456118-22456144, 22456169-22456192, 22456196, 22456199, 22456249-22456291, 22456327-22456344, 22469339-22469415
21RPL1110.96089385474862153724019100-24019104, 24019127, 24019182-24019184, 24019238-24019249
22GALE10.9875835721107913104724122649-24122655, 24122677, 24123061, 24123611, 24124257, 24125458-24125459
23HMGCL10.950920245398774897824134719-24134721, 24134754, 24134785-24134786, 24134795, 24137236-24137239, 24137242, 24151860-24151882, 24151893-24151905
24FUCA110.69093504639543433140124172271, 24175157-24175160, 24180863-24180864, 24180963, 24186288, 24186314-24186341, 24186354-24186356, 24186384, 24189709-24189730, 24191999-24192025, 24192088-24192115, 24194388-24194396, 24194406-24194409, 24194434-24194445, 24194449-24194504, 24194506-24194508, 24194546-24194776
25LDLRAP110.8166127292340917092725870190-25870193, 25870202-25870277, 25881373, 25881416-25881419, 25881444-25881463, 25890250, 25893340-25893350, 25893377-25893396, 25893423, 25893427-25893452, 25893475, 25893479-25893483
26SEPN110.88009592326139200166826126722-26126904, 26131704-26131708, 26136194, 26136206-26136207, 26136232-26136235, 26136289-26136292, 26140573
27YARS10.999369880277251158733256774
28ZMPSTE2410.9768907563025233142840737659-40737691
29KCNQ410.80795019157088401208841249769-41249783, 41249789-41249836, 41249855-41249893, 41249899-41249908, 41249920-41249983, 41250023-41250029, 41250044-41250079, 41283950, 41284183-41284190, 41284246-41284261, 41284275-41284316, 41284322-41284324, 41289909-41289918, 41296756-41296788, 41296876-41296881, 41296949-41296976, 41298728-41298752, 41298765-41298771, 41300751-41300753
30LEPRE110.9710538218000964221143232298-43232317, 43232389-43232405, 43232452-43232456, 43232491-43232510, 43232579-43232580
31SLC2A110.9891818796484116147943408917-43408932
32STIL10.999741401603311386747753227
33ORC110.9926527455529819258652838942, 52841199-52841213, 52847377, 52849561, 52851527
34DHCR2410.998710509348812155155352791-55352792
35BSND10.950155763239884896355464862-55464863, 55464868, 55465023-55465029, 55472882-55472888, 55473953-55473972, 55474001, 55474121-55474130
36PCSK910.85425685425685303207955505516-55505532, 55505553-55505564, 55505717, 55512276-55512295, 55518025-55518076, 55518084, 55518382-55518414, 55518461-55518463, 55521666-55521681, 55521686-55521687, 55521706-55521725, 55521731-55521738, 55521752-55521757, 55521822-55521824, 55521837-55521839, 55521851-55521862, 55523115-55523117, 55524201, 55524205-55524281, 55524311-55524315, 55525290-55525296, 55527202
37ALG610.994117647058829153063877640, 63877643-63877649, 63877653
38LEPR10.999714122355631349866036455
39RPL510.99664429530201389493300435-93300437
40ABCA410.9985341542069810682294497379-94497385, 94497533-94497535
41COL11A110.9956019791094245457103364247-103364270
42GSTM110.9406392694063939657110230503-110230507, 110230836-110230867, 110231740-110231741
43VANGL110.97714285714286361575116194082-116194095, 116206383, 116206386-116206398, 116206423, 116206586, 116206602, 116228110-116228114
44NOTCH210.99716828478964217416120539668, 120539687, 120539691, 120539711, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120612003-120612004, 120612006
45HFE210.921935987509761001281145414800, 145414841-145414846, 145414859, 145415366, 145415381-145415385, 145415409, 145415417, 145415420-145415421, 145415488, 145415493, 145415537-145415539, 145415556, 145415563, 145415598-145415599, 145415638, 145415650, 145415727, 145415743, 145415750, 145415816, 145416365-145416367, 145416537-145416548, 145416569-145416586, 145416625-145416627, 145416680-145416686, 145416695, 145416698-145416699, 145416702, 145416705, 145416836, 145416840, 145416867-145416883
46PRPF310.98976608187135212052150305635-150305643, 150310733-150310736, 150316996-150317002, 150325380
47FLG10.9647136057771243012186152276264, 152276274-152276276, 152276650-152276651, 152277256-152277277, 152277426-152277451, 152278236-152278250, 152278431-152278437, 152278575-152278581, 152279211-152279214, 152279406, 152279949-152279977, 152280335-152280338, 152280345-152280346, 152281142-152281150, 152281409-152281415, 152281863-152281880, 152281969, 152282279-152282303, 152283089-152283104, 152283222, 152283236, 152283261-152283290, 152283359, 152283812, 152283952-152283957, 152284070, 152284076, 152284141-152284147, 152284205-152284244, 152284305, 152284493-152284527, 152284652-152284658, 152284897-152284903, 152284958-152284964, 152284992-152285016, 152285042-152285058, 152285148, 152285155, 152285199, 152285206, 152285472, 152285970-152286005, 152286189, 152286192
48CHRNB210.95957587806494611509154544264-154544281, 154544344-154544374, 154544396, 154544459-154544469
49DPM310.8428184281842858369155112510-155112517, 155112603-155112652
50GBA10.92648287385129881197155184220-155184226, 155184364-155184388, 155184399-155184419, 155186195-155186222, 155187141-155187147
51GBA10.9956548727498471611155204847-155204853
52PKLR10.95420289855072791725155269915-155269946, 155269977-155270016, 155271179-155271185
53LMNA10.71428571428571162567156104997-156105002, 156105068-156105091, 156105760-156105777, 156105809-156105817, 156105864-156105898, 156106005-156106008, 156106087-156106114, 156106139-156106176
54LMNA10.866666666666672661995156084714, 156084717-156084723, 156084743, 156084761, 156084765, 156084780, 156084909-156084919, 156085038-156085044, 156104217, 156104309-156104314, 156104635, 156104740-156104750, 156104997-156105002, 156105068-156105091, 156105760-156105777, 156105809-156105817, 156105864-156105898, 156106005-156106008, 156106087-156106114, 156106139-156106176, 156108291, 156108295-156108321, 156108361, 156108382, 156108387-156108397, 156108458-156108463, 156108466-156108468, 156108473-156108476, 156108890
55SEMA4A10.98206474190726412286156131137-156131162, 156131223-156131225, 156131229-156131239, 156131265
56NTRK110.96026767043078952391156830727-156830747, 156830787-156830798, 156830816, 156830828-156830835, 156830841, 156830844, 156843491-156843500, 156844381-156844382, 156844402-156844404, 156844408-156844414, 156844756-156844765, 156845988-156845994, 156851332-156851333, 156851414-156851423
57NDUFS210.9949712643678271392161176372-161176378
58F510.9988014981273486675169510337-169510343, 169510475
59DARS210.9979360165118741938173794442-173794445
60NPHS210.92447916666667871152179544737-179544741, 179544744-179544745, 179544749-179544753, 179544779-179544796, 179544842-179544898
61LHX410.98976982097187121173180217461-180217472
62CFHR110.85901309164149140993196794610-196794614, 196794629, 196794646-196794647, 196794759-196794761, 196795959-196795972, 196796022-196796135, 196799676
63CFHR510.9970760233918151710196967335-196967339
64CACNA1S10.979188900747071175622201009371-201009379, 201012445-201012448, 201017772-201017778, 201018192-201018195, 201018207-201018212, 201021693, 201022632-201022644, 201022674, 201029804-201029809, 201029876-201029877, 201030463, 201030507, 201030586-201030596, 201031147-201031155, 201031218, 201052294-201052298, 201081346-201081358, 201081385-201081406, 201081449
65PKP110.98807886290692262181201282395-201282396, 201282476, 201282643-201282663, 201292278, 201292308
66TNNT210.989864864864869888201338956-201338964
67LAMB310.98834896277352413519209790914-209790930, 209791271-209791284, 209791804-209791805, 209791812, 209791832, 209791848-209791852, 209801427
68USH2A10.99987186879364215609215931937-215931938
69PSEN210.9962880475129951347227071438-227071439, 227071480, 227071516, 227071616
70ADCK310.4408436213991810871944227149087-227149105, 227149108, 227149149-227149158, 227149179-227149185, 227149190, 227149226-227149237, 227149240-227149256, 227152712-227152767, 227152806-227152807, 227152812-227152818, 227152825-227152827, 227152840, 227152843-227152856, 227152878-227152913, 227152929-227152968, 227152994, 227153011-227153036, 227153081-227153090, 227153105, 227153109-227153111, 227153379-227153438, 227165150-227165189, 227165224, 227169728-227169762, 227169768-227169796, 227169808-227169809, 227169837-227169840, 227169844, 227170379-227170413, 227170440-227170464, 227170595-227170729, 227171253-227171296, 227171316-227171320, 227171462-227171555, 227171795-227171810, 227171825-227171929, 227172249-227172267, 227172325-227172356, 227172642, 227172955-227172968, 227172974-227172992, 227173020-227173041, 227174154-227174195, 227174307-227174324, 227174329, 227174362, 227174368, 227174398, 227174421-227174438
71GJC210.2159090909090910351320228345460-228345468, 228345480-228345483, 228345509-228345531, 228345549, 228345554, 228345564-228345565, 228345569-228345571, 228345574, 228345577-228345585, 228345614-228345642, 228345646, 228345656-228345694, 228345709-228345742, 228345765, 228345779-228345864, 228345874, 228345882-228345923, 228345926, 228345934-228345935, 228345946-228346045, 228346051-228346209, 228346223-228346457, 228346476-228346483, 228346487-228346496, 228346502-228346595, 228346607-228346697, 228346705-228346709, 228346722-228346727, 228346734-228346756, 228346759, 228346766-228346779
72ACTA110.9947089947089961134229567915-229567920
73LYST10.99973698053656311406235972242-235972244
74ACTN210.9992551210428322685236850014-236850015
75MTR10.9981569246972173798237058827-237058830, 237060942-237060944
76RYR210.99966451959206514904237870517-237870521
77NLRP310.9974284795885683111247587783-247587790
78GATA3100.99625468164794513358097710, 8100739-8100741, 8100748
79OPTN100.997116493656295173413151249, 13151252-13151255
80PHYH100.9921337266478101713342011-13342018
81PTF1A100.8216818642350617698723481460-23481462, 23481647-23481671, 23481682-23481708, 23481714-23481772, 23481867, 23481886-23481890, 23481895-23481908, 23481911, 23481924-23481928, 23481933-23481959, 23481992-23481998, 23482132-23482133
82MASTL100.95828593098218110263727459290, 27469953-27469990, 27470409-27470419, 27470461-27470499, 27475414, 27475444, 27475447-27475465
83RET100.78834080717489708334543572707-43572779, 43595965-43595975, 43596036, 43596053-43596056, 43596076, 43596086-43596103, 43596108-43596109, 43596114-43596115, 43597807, 43597895-43597896, 43597902, 43597917-43597919, 43597922, 43597952, 43597956-43597959, 43597987-43598020, 43598030-43598077, 43600428-43600429, 43600461-43600482, 43600495-43600535, 43600572-43600574, 43600585, 43600588-43600589, 43600594-43600607, 43600624, 43601824-43601846, 43601924-43601949, 43601975, 43602002-43602004, 43604485, 43604543-43604550, 43604572, 43604590, 43604599, 43606655-43606656, 43606663, 43606669-43606673, 43606687, 43606708-43606732, 43606756, 43606760-43606762, 43606765-43606768, 43606772, 43606777, 43606781-43606786, 43606852-43606853, 43606856-43606860, 43606869-43606875, 43606880-43606913, 43607604, 43607617, 43607633-43607647, 43607652, 43608303-43608307, 43608409-43608411, 43609027-43609028, 43609093, 43609096, 43609928-43609952, 43609965-43609997, 43610106, 43610119, 43610145-43610178, 43612127-43612153, 43612175-43612179, 43613843, 43613849, 43613907-43613928, 43614994-43615008, 43615014, 43615017, 43615024, 43615029, 43615035, 43615046-43615048, 43615072-43615084, 43615139-43615147, 43615166-43615170, 43615175, 43615178-43615180, 43615534-43615542, 43617406-43617409, 43619128, 43619131, 43619245-43619247
84KIAA1279100.99678456591646186670748955-70748960
85NODAL100.9645593869731837104472201231-72201250, 72201257, 72201372-72201387
86PRF1100.9760191846522840166872358283-72358286, 72358363-72358387, 72358474-72358477, 72360569-72360575
87SLC29A3100.9901960784313714142873104027-73104028, 73115941-73115942, 73122039, 73122042-73122049, 73122289
88CDH23100.8075775656324619351005673337698-73337703, 73437385-73437420, 73437436, 73437447-73437449, 73439166-73439180, 73439186, 73439200-73439228, 73442226-73442233, 73442252-73442258, 73442265, 73442277, 73442291-73442329, 73447404-73447412, 73447427, 73447430, 73447436-73447438, 73447453-73447476, 73455201, 73455261-73455282, 73461779-73461809, 73461839-73461856, 73461860-73461862, 73461878-73461883, 73461900, 73461917-73461941, 73462306-73462307, 73462314, 73462317-73462323, 73462334-73462371, 73464668-73464671, 73464689-73464732, 73464736-73464739, 73464753-73464887, 73466654-73466672, 73466720, 73466727-73466731, 73466755-73466804, 73468874-73468894, 73468932, 73468948-73468968, 73472422-73472431, 73472465-73472494, 73472517-73472524, 73472551-73472565, 73490234-73490241, 73490260-73490315, 73491912-73491913, 73491926-73491928, 73491933-73491935, 73491942, 73491968-73491975, 73491979-73491986, 73492103-73492104, 73492107, 73494006-73494018, 73494041-73494073, 73494077-73494092, 73498257-73498287, 73498290, 73498306-73498360, 73498375, 73498379-73498381, 73498384, 73498396-73498404, 73499401-73499427, 73499439-73499459, 73499477-73499501, 73500619-73500635, 73500642-73500671, 73501451-73501507, 73501534-73501646, 73537488-73537541, 73537549-73537562, 73537658, 73538027-73538033, 73548780-73548799, 73550045-73550055, 73550079-73550103, 73550123, 73550153-73550170, 73550935-73550969, 73551074-73551092, 73556959-73556962, 73558164, 73558215, 73560426, 73565681-73565684, 73565714, 73565717, 73565753-73565754, 73565993, 73567278-73567280, 73567310-73567324, 73567607-73567609, 73567614, 73569611, 73569621-73569622, 73569663, 73569711-73569714, 73569717-73569720, 73569735-73569740, 73569768-73569794, 73569814, 73569818, 73570231-73570234, 73570288-73570293, 73570321-73570326, 73571083-73571094, 73571134-73571141, 73571160, 73571163-73571192, 73571268-73571308, 73571316-73571320, 73571470-73571493, 73571496-73571505, 73571718-73571758, 73572267, 73572270-73572271, 73572315-73572318, 73572323-73572328, 73572337-73572351, 73572525-73572529, 73572544-73572588, 73572635-73572636, 73573001-73573018, 73573064-73573097, 73574838-73574856, 73574896-73574937, 73574983-73574985, 73575012-73575019
89PSAP100.9428571428571490157573578391, 73578795, 73579371-73579372, 73579375, 73579472-73579475, 73579483, 73579490, 73579512-73579513, 73579516-73579525, 73579536-73579590, 73579647-73579657, 73580087
90VCL100.9911894273127830340575758101-75758130
91RPS24100.99885057471264187079795280
92MAT1A100.997474747474753118882036179-82036181
93LDB3100.84478021978022339218488428465-88428471, 88428486, 88428489-88428495, 88428498-88428499, 88428508, 88428528, 88439248, 88439251, 88439867, 88439873-88439877, 88439880, 88439889-88439890, 88441216-88441226, 88441229-88441235, 88441238-88441246, 88441323-88441326, 88441346, 88441354, 88441361, 88441407-88441410, 88441432-88441448, 88441472-88441482, 88441496-88441524, 88441539, 88441543, 88451653-88451658, 88451687, 88451697, 88466298-88466344, 88466349, 88466356-88466358, 88466390-88466442, 88466453-88466461, 88469667-88469673, 88469691-88469693, 88469699-88469703, 88469796-88469807, 88476086-88476091, 88476148-88476151, 88476186, 88476226, 88476268, 88476272-88476286, 88476295, 88476340-88476344, 88476375-88476380, 88476389-88476392, 88476420-88476438, 88478529
94GLUD1100.977340488968438167788854425-88854457, 88854479-88854483
95PDE6C100.999611951882031257795372782
96PLCE1100.999276306267195690996006362-96006366
97HPS1100.9653371320038732106100177321-100177325, 100177363-100177399, 100177412-100177437, 100177976-100177980
98COX15100.9935117599351281233101476135, 101491798-101491804
99PAX2100.9576597382602551299102509529, 102509542-102509543, 102509648, 102510578-102510628
100C10orf2100.9995133819951312055102749025
101FBXW4100.98870056497175141239103371403, 103371498, 103454286, 103454348-103454349, 103454364-103454366, 103454369, 103454376-103454380
102HPS6100.926116838487971722328103825277-103825301, 103825385-103825424, 103825456-103825458, 103825480, 103825485-103825505, 103825662-103825690, 103825714-103825721, 103825754-103825788, 103825837-103825839, 103825869-103825873, 103826310, 103826715
103SUFU100.824742268041242551455104352382-104352384, 104352398-104352423, 104352427, 104353429, 104353441-104353451, 104353455-104353469, 104356897-104356912, 104356963-104356984, 104357001-104357009, 104357050, 104359190-104359195, 104359254-104359286, 104359297-104359301, 104377094-104377100, 104377107-104377174, 104389850-104389857, 104389890-104389912
104COL17A1100.98331108144192754494105811968, 105815550-105815559, 105816791-105816827, 105816833-105816839, 105816872-105816890, 105816913
105EMX2100.9090909090909169759119302779-119302796, 119302860-119302862, 119302945-119302951, 119303000-119303007, 119303018-119303024, 119303086-119303111
106BAG3100.96122685185185671728121411189-121411198, 121411271-121411303, 121411306, 121411345-121411367
107FGFR2100.999593991067812463123353244
108HTRA1100.754677754677753541443124221169-124221254, 124221266-124221296, 124221320-124221400, 124221415-124221436, 124221446-124221448, 124221451-124221461, 124221464-124221485, 124221488-124221489, 124221508-124221510, 124221515-124221524, 124221534-124221546, 124221560-124221602, 124221611-124221637
109OAT100.9992424242424211320126097497
110UROS100.981203007518815798127477439-127477452, 127503613
111HRAS110.77719298245614127570532637-532646, 532654, 532659-532661, 532687-532726, 532748, 533462, 533465-533467, 533555, 533785-533806, 533823, 534224, 534228-534231, 534255-534260, 534272, 534291-534322
112TALDO1110.734714003944772691014747482-747496, 747500-747518, 747528, 747534, 747557-747578, 755893-755925, 755955-755965, 755975, 755983, 763344-763365, 763386-763471, 763504-763519, 763789-763790, 763867, 763873-763875, 763897, 763929-763944, 764312, 764824-764840
113SLC25A22110.099794238683128875972791915-791942, 791951, 791960, 791972-792068, 792142-792217, 792304-792458, 792553-792554, 792562-792727, 792870-792988, 793529-793546, 793553-793619, 794463, 794475-794485, 794513, 794776-794812, 794827-794901, 794987-795006
114PNPLA2110.1339933993399313121515819719-819905, 821628-821654, 821669-821671, 821682-821683, 821696-821789, 821803-821828, 821847-821860, 821958-822023, 822411-822431, 822461-822464, 822469-822498, 822532-822553, 822580-822606, 823527-823557, 823561-823563, 823570-823583, 823703-823855, 823998-824130, 824314-824351, 824360-824436, 824523-824862
115CTSD110.4221146085552971612391774733-1774748, 1774789, 1774803, 1774822, 1774831-1774834, 1774844-1774854, 1774861-1774900, 1775033-1775050, 1775225, 1775228, 1775231-1775244, 1775258-1775261, 1775268, 1775271-1775281, 1775292-1775368, 1776252-1776258, 1778556-1778614, 1778623-1778626, 1778645, 1778654-1778694, 1778700-1778715, 1778721, 1778724, 1778732, 1778740, 1778775-1778786, 1780220-1780317, 1780764-1780784, 1780794-1780869, 1782539-1782546, 1782567-1782591, 1782599-1782640, 1782650-1782657, 1782669-1782692, 1782697, 1785022-1785089
116TNNI21105495491861454-1861468, 1861633-1861674, 1861758-1861886, 1862049-1862138, 1862261-1862437, 1862686-1862781
117TNNT3110.158301158301166547771944286, 1944785-1944802, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953699-1953714, 1953720-1953724, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955782, 1955822-1955885, 1956075-1956131, 1956145-1956149, 1958193-1958233, 1959668-1959722
118H19110.947712418300655610712017569, 2017752-2017753, 2017758-2017760, 2017994-2018015, 2018160-2018163, 2018169-2018171, 2018346-2018366
119IGF2110.0154711673699027007112154217-2154453, 2154747-2154895, 2156598-2156634, 2156645-2156759, 2161365-2161526
120TH110.0031746031746032157015752185463-2185622, 2186467-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189895, 2190880-2191101, 2191920-2192000, 2192927-2193016
121KCNQ1110.6774987690792765520312466329-2466705, 2549175-2549176, 2549242, 2591858-2591868, 2591879-2591919, 2592555-2592576, 2592589-2592633, 2593268-2593277, 2593304-2593338, 2594105-2594120, 2604701-2604710, 2604758-2604765, 2606476, 2606487, 2606503, 2606533-2606537, 2608805-2608820, 2608880-2608890, 2609997-2609998, 2683287, 2790138-2790146, 2797265, 2798230, 2799206-2799224, 2799264-2799267, 2869109-2869113
122CDKN1C110.0715036803364888839512905238-2905265, 2905283-2905327, 2905339-2905364, 2905900-2906577, 2906583-2906654, 2906686-2906719
123HBD110.9842342342342374445255652-5255658
124SMPD1110.994198312236291118966411931-6411941
125ABCC8110.9837758112094477474617496516, 17496526, 17498176-17498208, 17498262-17498263, 17498284-17498323
126USH1C110.993703703703717270017531098, 17531170, 17531247-17531260, 17531344
127LDHA110.976976976976982399918428754-18428776
128WT1110.85199485199485230155432417817, 32456425-32456441, 32456456, 32456481-32456505, 32456518-32456535, 32456563-32456593, 32456600-32456682, 32456699, 32456705-32456709, 32456716-32456754, 32456799-32456807
129ALX4110.9360841423948279123644286417-44286423, 44286475-44286482, 44286593-44286610, 44286697-44286718, 44331151-44331174
130SLC35C1110.9839015151515217105645827814-45827830
131PEX16110.9481268011527454104145937367-45937375, 45939251-45939295
132F2110.86784376672017247186946740839-46740840, 46740844-46740850, 46741279, 46741353-46741370, 46741373-46741377, 46742340-46742353, 46744730-46744754, 46744775-46744781, 46744818-46744824, 46745044-46745068, 46747423-46747426, 46747466-46747467, 46747494-46747501, 46747504-46747511, 46747569-46747574, 46747615-46747636, 46747703-46747704, 46748082-46748086, 46748116, 46748122-46748141, 46748172-46748176, 46748287-46748290, 46748354-46748371, 46749563-46749572, 46749593, 46750992, 46751083-46751087, 46751090-46751095, 46751104-46751111
133MADD110.9977750809061511494447306085-47306087, 47306092, 47307054, 47307066, 47307120-47307124
134MYBPC3110.95660130718954166382547353429, 47353687, 47354787, 47355138-47355140, 47367871, 47367875-47367896, 47367910-47367913, 47368980, 47368983-47368987, 47369213, 47371444-47371446, 47371473, 47371584-47371604, 47371630-47371648, 47372113-47372161, 47372795, 47372886-47372891, 47372907, 47372918-47372939, 47372947, 47372971-47372972
135SLC39A13110.996415770609324111647433551, 47434970-47434972
136RAPSN110.78531073446328266123947459526-47459541, 47459593-47459598, 47460299-47460318, 47460427, 47460459, 47460470, 47460478, 47463178-47463210, 47463396-47463431, 47463437-47463453, 47464219-47464245, 47464271-47464272, 47464275, 47469422, 47469426, 47469466, 47469471-47469478, 47469485-47469486, 47469502, 47469524-47469572, 47469596-47469605, 47469701-47469702, 47470325-47470329, 47470420, 47470428-47470430, 47470472-47470490, 47470493
137NDUFS3110.937106918238995079547602461, 47602515-47602530, 47603687, 47603697-47603723, 47605961-47605963, 47605967, 47606030
138BEST1110.9857792946530125175861723217-61723223, 61723269-61723286
139ROM1110.990530303030310105662381100, 62381106, 62381109-62381111, 62381217-62381220, 62381229
140BSCL2110.9488840892728671138962469965-62469971, 62470005-62470021, 62474595-62474602, 62474625-62474663
141SLC22A12110.167870036101081383166264359029-64359049, 64359066-64359134, 64359145-64359176, 64359198, 64359202-64359210, 64359227-64359430, 64360251-64360305, 64360323-64360354, 64360877-64361031, 64361107-64361135, 64361149-64361275, 64365988-64366073, 64366082-64366111, 64366280-64366395, 64367148-64367206, 64367215-64367362, 64367839-64367885, 64367911-64367947, 64368207-64368225, 64368246-64368275, 64368284, 64368296-64368341, 64368349, 64368371-64368377, 64368401, 64368406-64368407, 64368960-64368971, 64369005-64369007, 64369017-64369020
142PYGM110.7856860419138542252964518825-64518831, 64518865-64518869, 64519402, 64519409-64519411, 64519414, 64519891, 64519942-64519958, 64520545-64520547, 64520562, 64520577, 64520617-64520618, 64520642, 64521001-64521085, 64521096, 64521128-64521136, 64521139-64521142, 64521147, 64521354-64521391, 64521419-64521424, 64521445-64521497, 64521732-64521784, 64521814-64521817, 64522184-64522185, 64522188, 64522253-64522264, 64522306, 64522976-64522980, 64523012, 64523015, 64523018-64523030, 64525741-64525753, 64525768-64525794, 64525817-64525821, 64525910-64525914, 64525918-64525923, 64525926, 64525941-64525969, 64526077-64526078, 64526087-64526108, 64526131-64526148, 64527128-64527187, 64527218-64527220, 64527223-64527230, 64527282, 64527293-64527297, 64527300-64527302, 64527347
143MEN1110.9918831168831215184864572072-64572078, 64572555-64572557, 64573713, 64573716-64573718, 64577503
144EFEMP2110.9684684684684742133265634468, 65634514, 65635468, 65635487, 65635490, 65635513-65635519, 65635869-65635871, 65636036, 65637357, 65637615, 65637621, 65637705, 65638650, 65638716-65638736
145CST6110.98444444444444745065779717, 65779723, 65779729, 65779749, 65780297-65780298, 65780395
146BBS1110.9601571268237971178266278545-66278548, 66287153-66287165, 66287198-66287212, 66287218, 66291261-66291298
147SPTBN2110.799665411961521437717366453479, 66453541-66453559, 66454635-66454638, 66454969, 66455038, 66455647-66455653, 66455660, 66455665, 66455726, 66455732, 66455735-66455736, 66455739, 66455746, 66456156-66456162, 66457330, 66457636-66457637, 66457655-66457659, 66457704-66457710, 66458838, 66458954-66458955, 66460441-66460449, 66460492, 66460495, 66460701-66460717, 66463748-66463779, 66463920, 66463923, 66466138-66466162, 66466478, 66466955, 66467054, 66467073-66467079, 66467999-66468079, 66468095-66468161, 66468181-66468230, 66468239, 66468249-66468262, 66468266-66468270, 66468273, 66468289-66468316, 66468379, 66468384-66468449, 66468458-66468495, 66468502-66468547, 66468576-66468611, 66468707, 66468720-66468746, 66468752-66468753, 66469065, 66469073, 66469120-66469121, 66469129, 66472075-66472076, 66472081, 66472135, 66472138-66472142, 66472160, 66472182-66472198, 66472208-66472241, 66472274, 66472417, 66472473-66472491, 66472508, 66472511, 66472521, 66472530, 66472614, 66472617-66472619, 66472622-66472645, 66472649-66472651, 66472674-66472676, 66472682-66472687, 66472690-66472722, 66472730-66472764, 66472876, 66472892-66472894, 66472906, 66472934-66472937, 66473211, 66473223-66473252, 66473262, 66473273-66473305, 66475001-66475033, 66475051-66475223, 66475241-66475265, 66475614-66475656, 66475683, 66475710-66475757, 66476379-66476426, 66478079-66478086, 66478090-66478096, 66478112-66478124, 66478155-66478224, 66478391-66478411, 66481641, 66481789-66481791, 66482769, 66482823-66482840, 66483316-66483339
148PC110.623975120158331330353766616738, 66616818, 66616821-66616832, 66617187, 66617206, 66617224-66617230, 66617262, 66617270-66617275, 66617288, 66617293-66617295, 66617500-66617512, 66617587, 66617691-66617694, 66617716-66617719, 66617722-66617732, 66617746, 66617785, 66617849-66617881, 66617887-66617914, 66618145-66618161, 66618234, 66618248-66618262, 66618265-66618268, 66618298-66618316, 66618349-66618351, 66618364, 66618375, 66618383, 66618531-66618532, 66618536-66618537, 66618565-66618572, 66618575, 66618640-66618681, 66619290-66619293, 66619379-66619398, 66619409, 66619994-66619996, 66620006-66620040, 66620051-66620075, 66620096, 66620099-66620108, 66620111, 66620277-66620278, 66620796-66620838, 66631245-66631334, 66631347-66631427, 66633658-66633668, 66633675-66633737, 66633750-66633752, 66633772, 66633786-66633820, 66636342-66636344, 66636347-66636351, 66636356, 66636372, 66636376, 66636410-66636411, 66636422-66636432, 66637773-66637814, 66637839-66637841, 66637848-66637864, 66637873-66637897, 66637913-66637924, 66638246-66638251, 66638259-66638304, 66638318-66638363, 66638523-66638530, 66638539-66638580, 66638586-66638668, 66638786-66638808, 66638821, 66638832-66638850, 66638858-66638874, 66638885-66638951, 66639161-66639252, 66639262-66639267, 66639275-66639279, 66639294-66639298, 66639500-66639531, 66639538-66639570
149CABP4110.5881642512077334182867222926-67222958, 67222983-67223003, 67223017-67223048, 67223092-67223182, 67223187, 67223190, 67223209-67223229, 67223662-67223681, 67223862-67223863, 67223897-67223913, 67225054-67225066, 67225070-67225072, 67225130, 67225842-67225862, 67225872-67225891, 67225900-67225941, 67226123-67226124
150AIP110.2487411883182374699367254477-67254525, 67254547-67254562, 67254591-67254599, 67254628-67254656, 67256738-67256740, 67256751-67256797, 67256806-67256807, 67256812-67256830, 67256849-67256869, 67256881-67256926, 67257516-67257643, 67257654-67257685, 67257787-67257928, 67258262-67258464
151NDUFV1110.9892473118279615139567374498, 67374547, 67376145, 67378033, 67378036, 67378039, 67378471-67378473, 67379443, 67379870, 67379922-67379924, 67379929
152NDUFS8110.4470774091627235063367799619-67799625, 67799629-67799635, 67799644-67799645, 67799657, 67799667, 67799757-67799803, 67800398, 67800409-67800422, 67800441-67800467, 67800578-67800580, 67800601, 67800643-67800673, 67800689-67800736, 67803732-67803742, 67803746-67803748, 67803786-67803823, 67803839-67803848, 67803933-67803977, 67803997-67804033, 67804042-67804045, 67804049-67804060
153TCIRG1110.482551143200961290249367808744-67808749, 67808759-67808804, 67808807-67808808, 67808819, 67809220-67809223, 67809258-67809261, 67810110-67810153, 67810174-67810207, 67810214-67810215, 67810222-67810223, 67810242-67810251, 67810259-67810268, 67810275-67810296, 67810440-67810475, 67810478-67810488, 67810840, 67810844-67810845, 67810881-67810887, 67810905, 67810934-67810964, 67811038, 67811070-67811120, 67811285-67811374, 67811599-67811609, 67811632-67811756, 67811764-67811769, 67811795-67811811, 67812426, 67812474, 67812517-67812542, 67814906-67814951, 67815005, 67815008-67815023, 67815116-67815137, 67815178-67815210, 67815257-67815271, 67815349-67815379, 67815390, 67815405-67815410, 67816394-67816396, 67816420-67816438, 67816548-67816604, 67816643, 67816669-67816675, 67816682-67816697, 67816702, 67816721-67816732, 67816755-67816761, 67817130-67817255, 67817429-67817446, 67817458-67817492, 67817513-67817533, 67817604-67817606, 67817620-67817643, 67817651-67817715, 67817954-67817974, 67817986, 67817992-67818031, 67818058-67818068, 67818077-67818081, 67818088, 67818092-67818093, 67818208-67818221, 67818225-67818227, 67818233
154LRP5110.82363861386139855484868080183-68080273, 68131215-68131232, 68131260-68131273, 68131305, 68131352-68131367, 68131407-68131411, 68153789-68153807, 68154000-68154002, 68154132-68154139, 68154165-68154177, 68174136-68174140, 68174258-68174268, 68177516-68177520, 68177533, 68178904-68178914, 68179037-68179043, 68191090, 68192652-68192671, 68193548, 68197086, 68197161, 68201225, 68201276-68201296, 68204357-68204373, 68204411-68204457, 68204467, 68205937-68206003, 68206020, 68206024, 68206050-68206051, 68206057, 68206060, 68206094-68206099, 68207245-68207303, 68207317-68207349, 68207355-68207384, 68213909-68214001, 68216277-68216376, 68216393-68216476, 68216497, 68216502-68216538
155CPT1A110.996124031007759232268527713-68527718, 68552284, 68552296-68552297
156IGHMBP2110.9835680751173749298268671444, 68671471, 68671477, 68673614-68673619, 68696729-68696733, 68701360-68701364, 68704028, 68704330-68704356, 68704521-68704522
157DHCR7110.84243697478992225142871146425-71146451, 71146461-71146468, 71146471-71146482, 71146489, 71146492, 71146530-71146536, 71146545-71146638, 71146661-71146699, 71146712, 71148919, 71148986, 71149978-71150008, 71150033, 71155171
158MYO7A110.585890493381472753664876858844-76858859, 76858888-76858903, 76858907-76858914, 76858924-76858942, 76858971-76858996, 76866953-76866955, 76866998-76866999, 76867054-76867095, 76867129-76867135, 76867723, 76867730, 76867733, 76867760-76867794, 76867957-76867962, 76867974-76867983, 76867989, 76867993, 76867998-76868032, 76869327, 76869369-76869372, 76869414-76869456, 76870544-76870549, 76871299, 76871302-76871306, 76873180-76873184, 76873194-76873197, 76873267-76873280, 76873323-76873324, 76873328-76873362, 76873918, 76877102-76877109, 76883794-76883864, 76883873-76883931, 76885802-76885842, 76885850-76885960, 76886429-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895760, 76900389-76900438, 76900450-76900515, 76901065-76901184, 76901742-76901750, 76901774-76901904, 76901915, 76903096-76903133, 76903150-76903174, 76903190, 76903194, 76903197-76903203, 76903213-76903225, 76903228-76903229, 76903232-76903236, 76903253-76903310, 76905435-76905437, 76908526-76908537, 76908549-76908589, 76908614-76908633, 76909542-76909589, 76909644, 76909654-76909666, 76910580-76910583, 76910739, 76910743-76910745, 76910763-76910766, 76910769, 76910794-76910814, 76914191, 76914246-76914249, 76914254, 76914261-76914262, 76917146-76917152
159FZD4110.9739776951672942161486665911-86665912, 86666013, 86666048-86666063, 86666086-86666108
160ATM110.9998909606367919171108098581
161DRD2110.9932432432432491332113281449-113281457
162APOA1110.75746268656716195804116706524-116706525, 116706649-116706674, 116706721-116706743, 116706758-116706762, 116706769, 116706775-116706802, 116706823-116706833, 116706866-116706904, 116706915-116706950, 116707087-116707097, 116707807-116707811, 116707825, 116708085-116708091
163FXYD2110.37214611872146275438117693020-117693030, 117693044-117693072, 117693108-117693121, 117693159-117693168, 117693171-117693178, 117693198, 117693235-117693303, 117693319-117693389, 117693396-117693432, 117695369-117695393
164SCN4B110.933042212518246687118015883-118015884, 118023345-118023388
165CD3G110.996357012750462549118220583, 118220646
166SLC37A4110.9981273408239721068118898922-118898923
167HMBS110.9990791896869211086118955767
168TECTA110.95993812838362596465120983811, 120983883-120983885, 120984311-120984332, 120984405-120984406, 120984413-120984414, 120989026-120989051, 120989078-120989107, 120989221-120989260, 120989283, 120989308-120989315, 120989363, 120989369-120989405, 120996238-120996240, 120998480-120998481, 120998485, 120998569-120998611, 120998751, 120998791-120998795, 120998834-120998854, 120999010-120999019
169ROBO3110.98990627253064424161124735525-124735565, 124738934
170KCNJ1110.9965986394557841176128709177-128709180
171ACAD8110.94951923076923631248134123495-134123515, 134129597-134129599, 134131225-134131226, 134131674-134131680, 134132415, 134132478-134132497, 134134814-134134822
172WNK1120.963631277101692607149862745-862787, 862836-862864, 862888-862910, 862929-862930, 862933-862951, 862987-862993, 863131-863180, 863192-863222, 863271, 863274-863280, 863296, 863341-863366, 994808-994828
173CACNA2D4120.9420035149384919834141902845, 1902848-1902850, 1904869-1904883, 1906587-1906595, 1906601-1906602, 1906622-1906701, 1909552-1909584, 1910232-1910236, 1949909-1949917, 1988186, 1988970-1989002, 1992039-1992045
174CACNA1C120.9681450998323420965612614008-2614015, 2614041-2614067, 2614091-2614111, 2622036-2622055, 2622100-2622119, 2622123, 2676735-2676738, 2676801-2676833, 2676856, 2676864-2676866, 2676882-2676884, 2676939-2676945, 2788730-2788731, 2788742-2788749, 2788752-2788754, 2788764, 2788883-2788896, 2791819, 2791827-2791833, 2794934-2794940, 2794974-2794980, 2795367, 2797820, 2797831, 2797835, 2797838, 2797844, 2797860, 2800351-2800354
175VWF120.9349680170575754984426058306, 6122647-6122650, 6122706-6122728, 6125331, 6125341, 6125372, 6125722-6125753, 6125788-6125819, 6127532-6127538, 6127637-6127662, 6127726-6127732, 6127767-6127788, 6127823-6127871, 6127943, 6128067, 6128076, 6128081, 6128084, 6128159-6128180, 6128228-6128263, 6128297-6128303, 6128339-6128357, 6128449-6128451, 6128476-6128508, 6128554-6128560, 6128633, 6128653, 6128746-6128753, 6128784-6128823, 6131112-6131118, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6132936, 6166043-6166045, 6166051-6166083, 6166089, 6166092, 6166104, 6166111-6166115, 6166154-6166156, 6166167-6166187, 6166207, 6166237-6166238, 6167186, 6167200, 6204691, 6230346, 6230363, 6230367, 6230458-6230463, 6230472, 6230502-6230504
176TNFRSF1A120.953216374269016413686438590-6438627, 6438781-6438788, 6450942-6450959
177SCNN1A120.9259259259259316221876457062, 6457078, 6457081-6457082, 6457089-6457090, 6457095, 6457130, 6457133-6457134, 6457138, 6457277, 6457322-6457367, 6457401-6457412, 6457929-6457935, 6458343-6458387, 6458539, 6458553, 6458565-6458571, 6463920-6463926, 6464505, 6464512-6464514, 6464542-6464544, 6464555-6464566, 6483747, 6483780-6483781, 6483790, 6484013
178TPI1120.8081447506976731-6976754, 6976764-6976794, 6976804-6976845, 6978061-6978069, 6978139-6978151, 6978456-6978462, 6979461-6979478
179ATN1120.994962216624691835737045909, 7045915, 7045918-7045926, 7047142-7047143, 7047205, 7047210-7047211, 7050169-7050170
180FGD4120.996523250760548230132761026, 32763754-32763760
181PKP2120.94749403341289132251432974305-32974325, 32974387-32974394, 32975419, 32975424, 32975467-32975499, 32976979-32977013, 33049471-33049475, 33049637-33049664
182VDR120.9922118380062310128448251338-48251347
183COL2A1120.97401433691756116446448367882-48367886, 48369794, 48371194, 48371407-48371410, 48371793-48371816, 48372116, 48372167, 48372384, 48372404-48372416, 48373304-48373309, 48373792-48373804, 48373834, 48374369-48374370, 48374397, 48374401, 48374740-48374750, 48375598-48375599, 48375612, 48376288, 48376291, 48376375, 48377508, 48377518-48377519, 48378360, 48378363-48378367, 48378847, 48380142-48380143, 48380146, 48383553-48383556, 48398062, 48398069-48398070, 48398079-48398080, 48398098-48398099
184MLL2120.714156735283547491661449418644-49418649, 49420056-49420087, 49420093, 49420399-49420405, 49420427-49420454, 49420596-49420615, 49420623-49420641, 49420652-49420663, 49420734-49420744, 49420767-49420779, 49420806-49420809, 49420888-49420901, 49421028-49421037, 49421060-49421091, 49421593-49421607, 49421797, 49421881, 49422624, 49422661-49422673, 49422730-49422741, 49422850-49422867, 49422892-49422940, 49423184-49423196, 49423231-49423238, 49423249, 49423254, 49424063-49424070, 49424074-49424075, 49424082, 49424110-49424134, 49424144-49424167, 49424182-49424193, 49424202-49424213, 49424393-49424396, 49424403-49424410, 49424421-49424422, 49424436-49424437, 49424443-49424478, 49424482, 49424485-49424488, 49424504-49424506, 49424537-49424539, 49424545-49424551, 49424688-49424692, 49424722-49424766, 49424781-49424788, 49425030-49425048, 49425077-49425122, 49425135-49425174, 49425192-49425234, 49425292-49425311, 49425331-49425342, 49425375-49425404, 49425432-49425464, 49425482-49425489, 49425510-49425518, 49425538, 49425558-49425587, 49425642-49425759, 49425789, 49425797-49425800, 49425805-49425809, 49425818-49425827, 49425861-49425935, 49425945-49425947, 49425958-49425985, 49425992-49425999, 49426006-49426041, 49426048-49426079, 49426103-49426254, 49426289-49426298, 49426319, 49426336-49426344, 49426362-49426417, 49426438-49426833, 49426845-49426923, 49426962-49426965, 49426969, 49427001-49427002, 49427044-49427143, 49427158-49427167, 49427189-49427198, 49427205-49427327, 49427362-49427365, 49427392-49427398, 49427402, 49427411-49427453, 49427499-49427614, 49427618, 49427634, 49427638-49427688, 49427721-49427728, 49427857-49427919, 49427926, 49427943-49427950, 49427956-49427957, 49427961, 49427988-49427998, 49428034-49428044, 49428071-49428075, 49428201-49428206, 49428209, 49428231-49428259, 49428599, 49428618-49428621, 49428625-49428627, 49430908-49430913, 49430934-49430963, 49430970-49431055, 49431072-49431097, 49431120-49431152, 49431178-49431187, 49431201-49431415, 49431421-49431609, 49431615-49431651, 49431668-49431803, 49431809-49432018, 49432038-49432050, 49432068-49432108, 49432131-49432182, 49432204-49432248, 49432271-49432316, 49432325-49432363, 49432392-49432438, 49432454-49432471, 49432493-49432522, 49432538-49432642, 49432657-49432713, 49432748-49432772, 49433005-49433020, 49433049-49433097, 49433134-49433137, 49433141, 49433218-49433220, 49433227-49433283, 49433296, 49433308-49433354, 49433363-49433381, 49433507-49433508, 49433529-49433558, 49433586-49433612, 49433667-49433716, 49433725-49433780, 49433820-49433824, 49433977-49433987, 49434029-49434131, 49434208-49434209, 49434222-49434264, 49434267, 49434279-49434291, 49434296, 49434350-49434372, 49434421-49434430, 49434548, 49434552, 49434573, 49434629-49434638, 49434664-49434674, 49434681-49434686, 49434758-49434768, 49434943-49434948, 49434953, 49435036, 49435094-49435104, 49435119, 49435130-49435135, 49435170-49435172, 49435183-49435198, 49435264, 49436015-49436016, 49437983-49438023, 49438228-49438234, 49438606-49438608, 49438641-49438647, 49438739-49438745, 49439878-49439886, 49440515-49440530, 49442462-49442465
185DHH120.9202350965575195119149483735-49483765, 49484118-49484135, 49488201-49488246
186TUBA1A120.839912280701757345649522210-49522216, 49522262-49522320, 49522411, 49522468, 49522575, 49522578, 49522585, 49522605, 49522624
187AQP2120.911764705882357281650344614-50344632, 50344879, 50347958, 50348413-50348416, 50349182-50349210, 50349324-50349337, 50349348, 50349362-50349364
188KRT81120.9387351778656193151852684020-52684061, 52684896, 52684914, 52685168-52685199, 52685223-52685239
189KRT86120.9363449691991893146152695779-52695825, 52696054-52696057, 52696893-52696933, 52697077
190KRT5120.998307952622673177352908747-52908749
191AAAS120.999390615478371164153708194
192RPS26120.99425287356322234856436341, 56437236
193MYO1A120.999361430395912313257431767, 57431779
194TSFM120.99897750511247197858176586
195GNS120.9897528631705817165965113852, 65138673, 65141527, 65141661, 65152974-65152985, 65153040
196HAL120.9944275582573511197496370218-96370226, 96370459-96370460
197TMPO120.9932853717026414208598909892-98909899, 98926650, 98928071-98928075
198SLC25A3120.9889807162534412108998987757-98987762, 98987902-98987906, 98991695
199SLC17A8120.9994350282485911770100797835
200UNG120.85138004246285140942109535485-109535503, 109535564-109535616, 109536266-109536268, 109536279-109536282, 109536335-109536337, 109536343, 109536346, 109536361-109536369, 109536432, 109539727, 109539732, 109540691, 109547732-109547774
201MMAB120.9814077025232414753110011170-110011171, 110011220-110011221, 110011276-110011285
202TRPV4120.654434250764539042616110221439-110221471, 110221482-110221490, 110221495-110221502, 110221539-110221556, 110221583, 110222121-110222122, 110222143-110222144, 110222150, 110222155, 110222169-110222188, 110222213-110222223, 110224515-110224536, 110224546-110224594, 110224602, 110224615-110224642, 110226228-110226262, 110226303, 110226312-110226324, 110226343-110226386, 110226411, 110226429-110226430, 110226439, 110226442-110226445, 110226484-110226486, 110226506-110226521, 110230168-110230234, 110230473, 110230505, 110230514-110230516, 110230558-110230568, 110230592-110230622, 110231358-110231397, 110231740-110231744, 110231750, 110231773-110231796, 110231800-110231803, 110232136, 110232150, 110232211, 110232214, 110232231, 110232274-110232292, 110234331, 110234346-110234347, 110234353-110234357, 110234421, 110234476, 110236422-110236423, 110236433-110236462, 110236465-110236466, 110236479-110236558, 110236568-110236620, 110236639, 110236701, 110236715, 110238425-110238430, 110238461, 110238466, 110238483-110238484, 110238488-110238517, 110238523-110238525, 110240804-110240810, 110240843-110240856, 110240859, 110240904-110240910, 110246101-110246105, 110246145-110246169, 110246172-110246174, 110246203-110246204, 110246218-110246237, 110246271, 110252388-110252420, 110252502, 110252558-110252581
203ATXN2120.857179096905125633942112036588-112036622, 112036652-112036790, 112036797, 112036812-112036818, 112036862-112037077, 112037086-112037194, 112037224-112037229, 112037258-112037301, 112037313-112037318
204SDS120.87639311043566122987113830953-113830954, 113835072, 113835098, 113835108-113835111, 113835120-113835150, 113836332-113836336, 113836513, 113836563-113836627, 113836944, 113836947-113836956, 113837411
205TBX3120.9995519713261612232115112293
206HNF1A120.583860759493677891896121416576, 121416581-121416582, 121416617, 121416622, 121416628-121416641, 121416650, 121416655, 121416692-121416693, 121416721, 121416728-121416732, 121416746-121416752, 121416767, 121416783-121416789, 121416845-121416887, 121416895-121416897, 121426705-121426709, 121426714-121426718, 121426762-121426769, 121426793-121426815, 121431341-121431344, 121432061-121432067, 121432114-121432133, 121434094-121434103, 121434127-121434128, 121434140-121434144, 121434188-121434207, 121434211, 121434344-121434363, 121434405-121434512, 121434528-121434545, 121435277-121435295, 121435312-121435418, 121435427, 121435462-121435468, 121437071-121437075, 121437089-121437189, 121437286-121437319, 121437324-121437339, 121437346-121437347, 121437362, 121437367, 121437371-121437401, 121437412-121437413, 121438868-121438959, 121438972-121438995
207HPD120.763113367174282801182122277695, 122281616-122281624, 122281628-122281630, 122284773-122284784, 122284958-122284987, 122285009-122285054, 122285078-122285086, 122285093-122285097, 122285114, 122286905-122286982, 122287617, 122287661-122287696, 122292611-122292656, 122294310, 122294521, 122295330
208PUS1120.836448598130842101284132414270-132414285, 132414312-132414341, 132414452-132414495, 132414503, 132414506-132414508, 132414511-132414525, 132414528-132414533, 132414547-132414551, 132414557-132414578, 132414598-132414632, 132414659-132414669, 132426004-132426009, 132426319, 132426427-132426441
209SACS130.99694323144105421374023910555, 23911275, 23912393-23912396, 23915260, 23915413-23915424, 23949307-23949329
210B3GALTL130.9886439545758217149731774222-31774238
211FREM2130.98548895899054138951039261537-39261592, 39261635-39261682, 39261742-39261751, 39261755, 39261805, 39261939-39261960
212SLC25A15130.99227373068433790641382658-41382664
213RB1130.9964119124506610278748934176-48934185
214ATP7B130.9938608458390227439852508993-52509001, 52509048-52509055, 52515244-52515245, 52523871-52523873, 52523879-52523883
215SLITRK1130.996174079387858209184453809-84453813, 84455473-84455475
216ZIC2130.868667917448412101599100634374-100634414, 100634525-100634528, 100634533, 100634568-100634578, 100634581-100634600, 100634782-100634803, 100635008-100635016, 100637670-100637679, 100637699-100637721, 100637729-100637732, 100637742-100637748, 100637781, 100637802, 100637816-100637822, 100637830-100637835, 100637842-100637846, 100637848-100637849, 100637855-100637888, 100637935-100637936
217PCCA130.9995427526291712187100741450
218COL4A1130.99101796407186455010110864239, 110959305-110959311, 110959319-110959355
219F7130.1041198501872711961335113760156-113760219, 113765004-113765164, 113768161-113768167, 113768223, 113768228-113768234, 113768259-113768274, 113769974-113769998, 113770013-113770112, 113771080-113771189, 113771787-113771910, 113772727-113772922, 113772929-113773259, 113773269-113773322
220F10130.720518064076354101467113777170-113777239, 113795284, 113798216-113798276, 113798301, 113798304-113798314, 113798320, 113798334, 113798369-113798409, 113803230-113803274, 113803284, 113803332-113803372, 113803443-113803459, 113803557, 113803570-113803574, 113803594-113803599, 113803605-113803606, 113803616-113803691, 113803698-113803699, 113803756-113803763, 113803774-113803778, 113803808-113803821
221GRK1130.757092198581564111692114321702-114321703, 114321744-114321881, 114321918-114321929, 114321949-114321972, 114321982-114321999, 114322025, 114322030, 114322039-114322049, 114322134-114322180, 114322199-114322205, 114322271-114322274, 114322284, 114322380-114322386, 114325857-114325888, 114325929-114325950, 114325963-114325971, 114426047-114426101, 114426120-114426130, 114434205, 114434221, 114435995, 114436039-114436040, 114436052-114436054, 114438212
222TEP1140.97437848807712202788420841254, 20841273-20841292, 20841502-20841519, 20842622, 20844311-20844322, 20844350-20844354, 20844383-20844397, 20845849-20845850, 20846344-20846350, 20846586-20846588, 20848556-20848562, 20849177-20849192, 20850125-20850135, 20850383-20850397, 20851755-20851776, 20852267-20852270, 20853160, 20853204-20853210, 20853212-20853213, 20854606-20854612, 20854622, 20854698-20854702, 20854709, 20854712, 20854734-20854735, 20854780-20854782, 20856077, 20856081, 20856104-20856110, 20859215-20859217, 20859220
223RPGRIP1140.9839419839419862386121762890, 21762895, 21762902, 21762905, 21769288, 21769368, 21771518-21771521, 21771581-21771589, 21771679, 21771698, 21775914, 21775966, 21796692-21796707, 21796746, 21798525-21798546
224SLC7A7140.994791666666678153623282126, 23282487-23282493
225PABPN1140.957654723127043992123790681-23790683, 23790718, 23790730-23790760, 23790763, 23790911, 23790960-23790961
226MYH6140.999828178694161582023859610
227MYH7140.9925964187327843580823882992-23882993, 23883022-23883043, 23886431-23886433, 23889395-23889401, 23894008-23894012, 23894082-23894085
228NRL140.8585434173669510171424550503-24550510, 24550555-24550558, 24550566-24550569, 24550582-24550620, 24550628-24550650, 24550676-24550683, 24551808-24551809, 24551812-24551823, 24551946
229PCK2140.996359854394187192324572450-24572456
230TGM1140.95028524857376122245424718626-24718629, 24723385-24723401, 24723870-24723876, 24723906-24723914, 24723925-24723927, 24723934-24723956, 24723973-24723992, 24724279, 24724352-24724355, 24724364-24724365, 24724600-24724605, 24724655, 24725195-24725202, 24727783-24727789, 24731368-24731374, 24731387-24731388, 24731442
231FOXG1140.74013605442177382147029236620-29236858, 29236869-29236881, 29236887-29236964, 29236981-29236989, 29237031-29237057, 29237069-29237074, 29237085-29237086, 29237259-29237260, 29237301-29237305, 29237314
232CFL2140.9940119760479350135183744-35183746
233NKX2-1140.80845771144279231120636986562, 36986577-36986600, 36986665-36986745, 36986771-36986772, 36986805-36986815, 36986827-36986881, 36986896-36986900, 36986915-36986924, 36988363-36988401, 36989332-36989334
234PAX9140.86062378167641143102637131295-37131298, 37132214-37132220, 37132375-37132420, 37132618-37132653, 37132685-37132701, 37135732-37135755, 37135798-37135806
235FANCM140.998861233121857614745618058, 45620680-45620681, 45623163-45623164, 45623971, 45623981
236MGAT2140.996279761904765134450088149-50088153
237C14orf104140.996817820206848251450100750-50100751, 50101098-50101100, 50101424, 50101682-50101683
238PYGL140.9834905660377442254451410958-51410997, 51411041-51411042
239GCH1140.7264276228419720675355369087-55369095, 55369130-55369139, 55369163-55369301, 55369308-55369355
240SYNE2140.99893842887473222072464443281, 64496706, 64556361-64556363, 64580256-64580268, 64588781-64588784
241VSX2140.9723756906077330108674706409-74706438
242EIF2B2140.994318181818186105675471499-75471503, 75471588
243FLVCR2140.9772296015180336158176045455-76045466, 76101264-76101265, 76107333, 76107619-76107623, 76112744, 76112791-76112805
244TGFB3140.9822437449556122123976446978-76446999
245ESRRB140.9914865749836313152776957885-76957887, 76957893-76957894, 76957904, 76964690-76964695, 76964701
246POMT2140.9724811362627662225377743808-77743810, 77745165, 77751885, 77786850-77786886, 77786937-77786948, 77786999-77787006
247ATXN3140.9760589318600426108692537279-92537287, 92537338-92537354
248AMN14013621362103389026-103389068, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
249INF2140.042435913750105167703-105168093, 105169442-105169557, 105169632-105169791, 105170253-105170286, 105172372-105172470, 105172473, 105172479-105172513, 105173247-105173305, 105173314-105173388, 105173590-105173600, 105173608-105174339, 105174773-105174924, 105175008-105175069, 105175618-105175699, 105175957-105176042, 105176425-105176525, 105177274-105177339, 105177416-105177426, 105177434-105177523, 105177966-105178036, 105178770-105178786, 105178813-105178842, 105178858-105178890, 105179165-105179329, 105179544-105179646, 105179782-105179789, 105179796-105179867, 105179873-105179943, 105180540-105181098, 105181104-105181183, 105181192-105181193, 105181631-105181647
250NIPA1150.8181818181818218099023049335-23049336, 23086234-23086411
251OCA2150.998013508144625251728202817, 28230217, 28234753, 28234782, 28235769
252IVD150.99921935987511128140698044
253CHST14150.9283819628647281113140763440-40763475, 40763521-40763538, 40763543, 40763802-40763827
254CAPN3150.9873366013071931244842682279-42682294, 42684837-42684847, 42684903-42684905, 42684909
255CDAN1150.999185667752443368443028694, 43028702, 43028710
256STRC150.9958708708708722532843896303-43896312, 43900153, 43907745-43907751, 43910440, 43910867-43910869
257STRC150.996410256410267195044007207-44007213
258DUOX2150.95072089520121229464745392004-45392005, 45392330-45392333, 45392963, 45393014, 45393995-45394001, 45394129-45394131, 45394134-45394135, 45398012-45398018, 45398404, 45398461-45398493, 45399644, 45403310-45403343, 45403437-45403441, 45403455, 45403582-45403625, 45403642-45403650, 45403692-45403729, 45403966, 45404130-45404141, 45404851, 45404855-45404857, 45405187-45405204, 45405215
259GATM150.9858490566037718127245670620-45670637
260TPM1150.99883040935673185563335991
261PPIB150.983102918586791165164455103-64455113
262SPG21150.99892125134844192765257723
263MAP2K1150.996615905245354118266679732-66679733, 66679746-66679747
264CLN6150.967948717948723093668500488, 68521856-68521883, 68521921
265NR2E3150.99637681159424110472103860-72103862, 72103865
266HEXA150.996855345911955159072668281-72668285
267HCN4150.74667774086379915361273614831-73614857, 73614884-73614895, 73614906-73614907, 73614983, 73614987, 73615001-73615046, 73615059-73615089, 73615118-73615177, 73615186, 73615190, 73615240, 73615330, 73615425-73615430, 73615444-73615450, 73615456-73615462, 73615517-73615519, 73615581-73615607, 73615673, 73615790-73615796, 73615885-73615891, 73615895, 73615901, 73616168, 73616207-73616216, 73659829, 73659855-73659893, 73659906-73659913, 73659969-73660007, 73660021-73660399, 73660425-73660611
268MPI150.9803459119496925127275185554-75185558, 75185567-75185573, 75188583-75188589, 75190057-75190061, 75190071
269PSTPIP1150.0423661071143091198125177287936, 77310489-77310589, 77310798-77310812, 77310831-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
270FAH150.994444444444447126080445473-80445477, 80460476, 80460487
271POLG150.9935483870967724372089866007-89866013, 89866097, 89872034-89872035, 89876813-89876822, 89876828-89876830, 89876836
272MESP2150.76549413735343280119490319589, 90319600-90319670, 90319701-90319705, 90319715, 90319763, 90319778-90319779, 90319804, 90319823, 90319838-90319878, 90319925, 90319928-90319940, 90319958, 90320012-90320023, 90320028-90320029, 90320047-90320049, 90320052, 90320060, 90320100, 90320103, 90320118-90320199, 90320234-90320237, 90320240, 90320251, 90320269, 90320321, 90320367-90320377, 90320390, 90320435-90320441, 90320497-90320507
273BLM150.982604607428374425491337434-91337439, 91337463-91337467, 91337470-91337479, 91337512-91337527, 91337534, 91358412-91358419, 91358470-91358497
274VPS33B150.998921251348442185491543004, 91548927
275IGF1R150.9892787524366544410499192861-99192904
276HBZ160.28438228438228307429202909-202933, 202978-202987, 203000, 203891-203905, 203910, 203923-203948, 203954-204095, 204271-204308, 204331-204379
277HBM160.997652582159621426216357
278HBA2160.51515151515152208429222912-222945, 222956-223006, 223168-223199, 223225, 223252-223282, 223295-223328, 223471-223493, 223532-223533
279GNPTG160.755991285403052249181401967-1402018, 1402103-1402160, 1402240-1402245, 1402266-1402307, 1411758-1411759, 1411930-1411936, 1412254-1412297, 1412315, 1412481, 1412486, 1413044-1413053
280CLCN7160.33912324234905159824181496632-1496718, 1497007-1497087, 1497393-1497569, 1497656-1497703, 1497714-1497715, 1498356-1498485, 1498682-1498767, 1498996-1499031, 1499043-1499094, 1499277-1499328, 1500498-1500557, 1500569-1500667, 1501624-1501717, 1502756-1502758, 1502773-1502779, 1502784-1502796, 1502807, 1502811, 1502826-1502867, 1502876-1502894, 1503848, 1503869-1503895, 1504412, 1504423-1504466, 1505135-1505182, 1505203-1505227, 1505755-1505764, 1505769-1505796, 1506128-1506184, 1506195-1506198, 1507255-1507258, 1507295, 1507325-1507338, 1507712, 1507715-1507744, 1509108-1509153, 1509174-1509188, 1510455, 1510472, 1510510-1510515, 1510903-1510934, 1511471, 1524835-1524843, 1524852-1524951, 1524974-1524975
281IGFALS160.068840579710145179919321840601-1840617, 1840621-1840623, 1840629-1840706, 1840716-1841192, 1841217-1841569, 1841575-1841702, 1841715-1842015, 1842039-1842094, 1842103-1842216, 1842239-1842406, 1842426-1842516, 1843641-1843653
282GFER160.137540453074435336182034220-2034477, 2034748-2034749, 2034764-2034940, 2035867-2035877, 2035908-2035986, 2035998, 2036009-2036013
283TSC2160.085730088495575495954242098617-2098754, 2100401-2100466, 2100482-2100487, 2103343-2103453, 2104390, 2104404-2104441, 2105403-2105429, 2105445-2105446, 2105493-2105509, 2106197-2106235, 2106645-2106667, 2106737, 2107106-2107110, 2107162-2107166, 2107171-2107179, 2108748-2108874, 2110671-2110814, 2111872-2111896, 2111913-2111953, 2111971, 2111977-2111989, 2112004-2112009, 2112498-2112601, 2112973-2113002, 2113008-2113054, 2114273-2114296, 2114305-2114428, 2115520-2115636, 2120457-2120579, 2121511-2121617, 2121785-2121935, 2122242-2122364, 2122850-2122861, 2122878, 2122882-2122913, 2122935-2122984, 2124201-2124390, 2125800-2125893, 2126069-2126171, 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, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
284PKD116012912129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 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
285ABCA3160.68778103616813159751152326689-2326711, 2327603, 2327931, 2327982-2327995, 2328022-2328061, 2328304, 2328330, 2328340-2328347, 2328359-2328361, 2328377-2328392, 2328397-2328422, 2328429, 2328436, 2329003, 2329043-2329047, 2329057, 2329106, 2329114, 2329122-2329124, 2329131, 2331028-2331065, 2331101-2331112, 2331128-2331135, 2331156, 2331168-2331213, 2331384, 2331387-2331388, 2331426-2331473, 2331495-2331510, 2333187-2333268, 2333293-2333304, 2333314-2333359, 2334283, 2334295-2334367, 2334406, 2334850, 2334853, 2334859, 2334924-2334926, 2334956-2334999, 2335443-2335457, 2335485, 2335495-2335568, 2335585-2335603, 2335615, 2335631-2335642, 2336726, 2336743-2336744, 2336813-2336862, 2336907, 2336942, 2336957, 2338045, 2338057-2338081, 2338096-2338104, 2338142-2338149, 2338182-2338203, 2338239, 2338278, 2338318, 2338330, 2339513-2339526, 2339540-2339577, 2339600-2339611, 2342141-2342166, 2342238-2342239, 2345594-2345600, 2345642-2345655, 2345669, 2347330-2347331, 2347337, 2347340, 2347353-2347540, 2347767-2347800, 2347837-2347842, 2347847-2347848, 2347867, 2347873, 2347878, 2347905-2347913, 2347918-2347922, 2348387, 2348396-2348445, 2348451-2348516, 2349404-2349410, 2349413-2349467, 2349495-2349512, 2349517-2349519, 2350007-2350008, 2350014-2350058, 2350082, 2350135-2350147, 2354060-2354133, 2354148-2354151, 2358465-2358473, 2358538, 2358541, 2358605-2358620, 2367739-2367765, 2369601, 2369649-2369651, 2369662, 2369778
286MEFV160.7932651321398148523463293168-3293169, 3293175-3293177, 3293196, 3293308-3293329, 3293348, 3293352-3293357, 3293396-3293404, 3293448, 3293451, 3293493-3293497, 3293581, 3293604-3293636, 3293688-3293694, 3293875-3293880, 3294478-3294506, 3296528, 3296531-3296534, 3297019-3297023, 3297039-3297052, 3297098-3297099, 3297175, 3297181, 3297191-3297195, 3298939-3298942, 3298953-3298958, 3298965, 3299480, 3299488, 3304214-3304217, 3304290-3304296, 3304367-3304374, 3304432-3304478, 3304484-3304536, 3304558-3304603, 3304639-3304684, 3306323-3306373, 3306411-3306429, 3306432, 3306439-3306442, 3306562-3306587
287SLX4160.9224341507720342755053632412-3632414, 3632533-3632547, 3632586, 3632647, 3633139, 3633164-3633166, 3633169, 3639130-3639133, 3639139, 3639249, 3639260, 3639355-3639356, 3639409-3639410, 3639451, 3639635, 3639774-3639804, 3639829, 3639957-3639958, 3639990, 3640112-3640114, 3640230, 3640555-3640557, 3641072, 3641191, 3642751, 3642754-3642755, 3642775, 3642796-3642845, 3642862-3642866, 3644462-3644500, 3644580, 3645617, 3646165-3646199, 3647484, 3647571-3647591, 3647872, 3647876-3647918, 3647923, 3647942, 3647983-3647984, 3647991, 3651004-3651032, 3651063-3651080, 3652135-3652136, 3652214-3652216, 3656490-3656534, 3656540-3656562, 3656603-3656618, 3656671-3656673
288CREBBP160.9795333606221915073293777738-3777742, 3777764-3777789, 3778303-3778305, 3778309-3778313, 3778346, 3778378, 3778381-3778408, 3778419, 3778450, 3778453-3778461, 3778637-3778648, 3778843-3778846, 3778860, 3778880-3778886, 3778896-3778898, 3778901-3778902, 3778980-3778994, 3779002, 3779064-3779067, 3779131, 3779136-3779144, 3779404-3779414
289GLIS2160.0038095238095238156915754382282-4382453, 4383348-4383379, 4383386-4383520, 4384802-4384978, 4385061-4385194, 4385276-4385394, 4386726-4387525
290ALG1160.8344086021505423113955128813-5128817, 5128827-5128839, 5128843-5128879, 5129065-5129089, 5129790-5129791, 5130947-5130999, 5131012-5131057, 5132588-5132606, 5132633-5132639, 5133739, 5134774, 5134840-5134859, 5134871-5134872
291ABAT160.989354624085161615038866735-8866737, 8868872-8868884
292MYH11160.9981481481481511594015838991-15838993, 15844008, 15847251-15847252, 15847342-15847343, 15851765-15851767
293ABCC6160.675753546099291463451216244036-16244046, 16244058, 16244451-16244494, 16244508-16244513, 16244520, 16244541-16244562, 16244610-16244612, 16248572, 16248580, 16248632-16248651, 16248731, 16248840-16248841, 16248844-16248849, 16248854, 16251618-16251649, 16251657-16251658, 16253339-16253379, 16253387-16253416, 16255299-16255421, 16256850-16256857, 16256887-16256936, 16256951-16257007, 16257017, 16257031-16257049, 16259480-16259676, 16259703-16259790, 16263503-16263710, 16267141-16267261, 16269768-16269843, 16271313-16271343, 16271363-16271395, 16271402-16271483, 16272696, 16272747-16272786, 16272800, 16272819, 16276311-16276315, 16276389-16276391, 16276410, 16276420-16276441, 16276692-16276731, 16278867-16278871, 16284067, 16284070, 16291955, 16291971, 16292026-16292035, 16306056-16306063, 16315608, 16317285, 16317291
294UMOD160.9516380655226293192320359888-20359922, 20359971-20359977, 20360114-20360125, 20360311-20360347, 20360367, 20360382
295SCNN1B160.9765990639625645192323360120, 23360123, 23360205-23360207, 23364137, 23366762-23366787, 23392054-23392066
296COG7160.9744920017293659231323400269-23400275, 23409370-23409378, 23436108-23436138, 23436182-23436189, 23436230-23436232, 23436238
297PALB2160.9963493400730113356123634331, 23635395-23635406
298CLN3160.9567198177676557131728497670-28497680, 28497683-28497716, 28498836-28498840, 28498849, 28500702-28500707
299TUFM160.92324561403509105136828855789-28855795, 28857292, 28857323-28857355, 28857374-28857377, 28857395-28857424, 28857542-28857547, 28857559-28857561, 28857567-28857570, 28857574-28857590
300ATP2A1160.92714570858283219300628895901-28895903, 28895934-28895935, 28895940, 28895957, 28895964-28895969, 28895976, 28898545, 28898582, 28898787-28898803, 28898868-28898890, 28898926, 28898933-28898937, 28898948-28898956, 28900158-28900190, 28900243-28900274, 28906204, 28909616-28909618, 28909631-28909635, 28909724, 28911932, 28911964-28911965, 28911984-28912008, 28912095, 28912099, 28912131-28912133, 28912142, 28912150, 28912154-28912156, 28914199, 28914363-28914370, 28915501-28915526
301CD19160.9928186714542212167128948640, 28948650-28948660
302PHKG2160.91154791154791108122130760142-30760191, 30760215-30760236, 30764722, 30767911, 30768149-30768170, 30768338, 30768347-30768352, 30768364-30768366, 30768369, 30768372
303VKORC1160.7215447154471513749231102455-31102498, 31102613-31102659, 31105935, 31105946-31105986, 31106008-31106011
304FUS160.9512966476913377158131193902-31193909, 31195279-31195280, 31195289-31195307, 31195659-31195701, 31196393, 31196397-31196399, 31196405
305SLC5A2160.82813273897969347201931494513-31494559, 31494582-31494583, 31495997-31495998, 31496177-31496180, 31497146-31497158, 31499059, 31499069, 31499359-31499387, 31499442, 31499447-31499462, 31499790-31499792, 31499804, 31499943-31499952, 31500022-31500023, 31500036-31500053, 31500064-31500083, 31500201-31500214, 31500229-31500255, 31500279-31500366, 31500504-31500507, 31500571-31500604, 31501493-31501494, 31501730-31501736, 31501777
306NOD2160.9961575408261312312350745802, 50745860-50745870
307SALL1160.999245283018873397551175656-51175658
308SLC12A3160.88554801163919354309356899257-56899264, 56904557-56904560, 56912033-56912037, 56913086-56913097, 56913489-56913496, 56913505-56913507, 56914042-56914053, 56914093, 56914127-56914136, 56914140, 56914145, 56914151, 56914154-56914156, 56914160-56914165, 56918062, 56918090-56918098, 56919244-56919253, 56920276-56920285, 56920307-56920309, 56920314, 56920377-56920386, 56920870-56920895, 56920916-56920979, 56920985-56920990, 56921837-56921943, 56924211-56924212, 56924215-56924217, 56936336-56936342, 56938355-56938374
309CETP160.995276653171397148257017504-57017506, 57017509-57017512
310GPR56160.9602713178294682206457684207-57684246, 57685220, 57689344-57689350, 57689880-57689883, 57693334-57693346, 57693375, 57693432-57693433, 57693448, 57695720, 57695726, 57695761-57695770, 57697484
311CNGB1160.9739084132055498375657993829-57993856, 57994744-57994759, 57998034-57998039, 58001081-58001128
312TK2160.99891774891775192466584013
313HSD11B2160.79638752052545248121867465152-67465348, 67465362-67465401, 67465415-67465416, 67469647, 67469918-67469921, 67469997-67469998, 67470001-67470002
314LCAT160.63869992441421478132367973807-67973811, 67973839, 67973846-67973850, 67973853-67973857, 67973872-67973892, 67973934, 67973944-67973945, 67973948-67973952, 67973955-67973956, 67973965-67973969, 67973975-67973978, 67973983, 67973987, 67973990, 67974009, 67974018-67974064, 67974076-67974103, 67974137, 67974147, 67974156-67974189, 67974211, 67974222, 67974281-67974285, 67974293-67974294, 67974306, 67976355, 67976368-67976416, 67976424-67976448, 67976454-67976490, 67976591, 67976610-67976640, 67976667, 67976769-67976782, 67976817, 67976844-67976879, 67976959-67976987, 67977049, 67977082-67977089, 67977104-67977115, 67977904, 67977945, 67977956-67978004
315CDH3160.60923694779116973249068679309-68679318, 68679553-68679558, 68679561-68679563, 68679568-68679569, 68679583-68679595, 68679627, 68679650-68679653, 68712066-68712079, 68712082, 68712123-68712163, 68712174-68712180, 68712405-68712411, 68712469-68712474, 68712537-68712542, 68712791-68712795, 68713706-68713708, 68713730, 68713745, 68713787-68713832, 68713877, 68714893-68714958, 68714981, 68716205-68716237, 68716260-68716277, 68716290-68716291, 68716301-68716321, 68716336-68716339, 68716344, 68716385-68716388, 68718494-68718499, 68718526-68718610, 68718618, 68718654-68718727, 68719108-68719229, 68719253, 68721415, 68721423, 68721451-68721485, 68721501-68721535, 68721559-68721568, 68721588-68721639, 68725623-68725829, 68729266-68729272, 68729693-68729694, 68729702, 68729709, 68729714, 68732190-68732192
316CDH1160.992072480181221264968771335-68771355
317CIRH1A160.9907811741872919206169173786-69173788, 69173792, 69184561-69184565, 69197072-69197081
318COG8160.91190864600326162183969364750-69364780, 69364832-69364843, 69364952-69364960, 69366713-69366742, 69368514, 69373126, 69373129, 69373133, 69373154-69373157, 69373160, 69373197-69373244, 69373316-69373331, 69373376-69373377, 69373399, 69373404-69373406, 69373414
319AARS160.9848641210870344290770286659, 70286722, 70287177, 70292027-70292029, 70292054-70292055, 70292892, 70296250-70296262, 70296391-70296397, 70296407-70296408, 70298870, 70299562, 70302181, 70302189-70302196, 70304160-70304161
320HP160.9623259623259646122172091295, 72091307-72091308, 72091311, 72092201-72092242
321GCSH160.7988505747126410552281129736-81129824, 81129841, 81129850-81129863, 81129875
322GAN160.996098104793767179481348879-81348885
323MLYCD160.75236167341431367148283932750-83932773, 83932781-83932821, 83932840-83932862, 83932871-83932899, 83932906-83932911, 83932915-83932922, 83932955-83932986, 83932992-83932994, 83932997-83933009, 83933012-83933024, 83933038, 83933055-83933132, 83933155-83933158, 83933167, 83933229-83933235, 83941747-83941753, 83941797-83941823, 83941861, 83941864-83941879, 83945878, 83945962-83945963, 83948749-83948751, 83948755-83948756, 83948761-83948781, 83948788, 83948791-83948793
324LRRC50160.999540863177231217884199554
325FOXF1160.71929824561404320114086544189-86544271, 86544290-86544297, 86544350-86544351, 86544386-86544397, 86544441-86544469, 86544506-86544515, 86544543, 86544594-86544625, 86544636, 86544660-86544670, 86544755-86544794, 86544821-86544832, 86544858-86544877, 86544902-86544935, 86544959-86544978, 86545002, 86546562-86546565
326FOXC2160.64143426294821540150686600961, 86601093-86601137, 86601224-86601231, 86601309-86601336, 86601398-86601445, 86601495-86601511, 86601548-86601558, 86601610-86601627, 86601638-86601738, 86601778-86601790, 86601810-86601844, 86601852-86601888, 86601899-86601903, 86601936-86602014, 86602118, 86602129-86602141, 86602151-86602177, 86602185-86602237
327JPH3160.329773030707611506224787636753-87636820, 87636832-87636895, 87636914, 87636946-87636947, 87636956-87636957, 87636996-87636999, 87637015-87637073, 87637098-87637134, 87677864-87677913, 87677926-87677937, 87677947-87677948, 87677953-87677972, 87677990-87678072, 87678100-87678113, 87678117, 87678120-87678124, 87678153-87678186, 87678194-87678227, 87678270-87678271, 87678274, 87678284-87678290, 87678305-87678308, 87678315-87678322, 87678334-87678375, 87678380-87678420, 87678438-87678462, 87678553-87678557, 87678584-87678607, 87678617, 87678632-87678641, 87717755-87717768, 87717775, 87717789-87717872, 87723252-87723290, 87723305-87723515, 87723522-87723741, 87723750-87723786, 87723814-87723828, 87723838, 87723856-87723862, 87723872-87723930, 87723950-87724066, 87724095-87724129, 87730248-87730251
328CYBA160.01870748299319757758888709761-88709979, 88712524-88712605, 88713174-88713246, 88713509-88713583, 88714453-88714522, 88717364-88717421
329APRT160.02762430939226552854388876106-88876248, 88876478-88876556, 88876831-88876957, 88877958-88877987, 88877996-88878064, 88878228-88878307
330GALNS160.4282982791587897156988880847-88880933, 88884415-88884532, 88888997-88889118, 88891175-88891178, 88891195-88891277, 88893124-88893205, 88893216-88893230, 88898406, 88898410, 88898422, 88898460, 88898471-88898479, 88901635, 88901640-88901642, 88901659, 88901696-88901697, 88901736-88901760, 88902142-88902152, 88902255, 88904126, 88907400-88907416, 88907421-88907452, 88907459, 88907464-88907473, 88907477-88907490, 88907498-88907499, 88908305-88908315, 88908326-88908332, 88908361-88908379, 88909116-88909137, 88909165-88909237, 88923166-88923285
331SPG7160.84422110552764372238889574826-89574863, 89574892-89574924, 89574953, 89574980-89575008, 89576942-89576958, 89579356-89579362, 89592872-89592876, 89595890-89595912, 89598320-89598373, 89598386-89598387, 89598395-89598414, 89598463, 89598471-89598474, 89599020, 89614450-89614452, 89614455-89614457, 89614460, 89614469-89614472, 89614477-89614487, 89614512-89614521, 89616962-89616965, 89616978, 89617000, 89619505-89619509, 89620297-89620303, 89620894-89620907, 89623417-89623447, 89623459-89623500
332FANCA160.94139194139194256436889805009-89805094, 89805116, 89805345-89805359, 89805558-89805595, 89805600, 89805915-89805916, 89805935-89805937, 89806438-89806442, 89809296-89809305, 89837021-89837042, 89839758-89839770, 89842157-89842194, 89842222-89842223, 89880931, 89882945-89882961, 89882994, 89883007
333TUBB3160.35846267553585868135389989810-89989866, 89998987-89999018, 89999044, 89999046-89999057, 89999074-89999087, 89999907-89999913, 89999922-89999924, 89999940-89999941, 90001152-90001192, 90001239-90001311, 90001340-90001344, 90001378-90001386, 90001419-90001421, 90001425-90001436, 90001458, 90001463-90001533, 90001543-90001624, 90001633, 90001642-90001680, 90001686-90001818, 90001838-90001896, 90001908-90002031, 90002056-90002082, 90002119-90002136, 90002153-90002194
334PRPF8170.9844463470319610970081554096, 1554125, 1554163, 1554167, 1554722-1554728, 1554987, 1554994, 1556924-1556938, 1557071-1557077, 1557156-1557158, 1557208-1557231, 1557269-1557301, 1558660-1558665, 1562022, 1565257, 1576396-1576397, 1580340, 1586955, 1586972, 1587792
335CTNS170.768911055694127812033552161-3552194, 3559781-3559834, 3559851-3559852, 3559858, 3559862-3559880, 3559970-3560089, 3561299-3561330, 3561389-3561392, 3561396, 3561431, 3563189-3563191, 3563262, 3563538, 3563622, 3563963, 3563971, 3563979, 3563984
336CHRNE170.4109311740890787314824802031-4802032, 4802042-4802054, 4802066-4802186, 4802296-4802325, 4802348-4802402, 4802493-4802679, 4802763-4802873, 4804088-4804119, 4804162-4804202, 4804285-4804288, 4804295-4804304, 4804312, 4804345-4804368, 4804375-4804485, 4804820-4804884, 4805320, 4805338-4805344, 4805349, 4805353-4805360, 4805365, 4805371, 4805512-4805522, 4805757-4805787, 4806022-4806023, 4806315, 4806342, 4806358
337GP1BA170.99947916666667119204837738
338AIPL1170.9974025974026311556331647-6331649
339PITPNM3170.57401709401709124629256358658-6358834, 6358850-6358904, 6358923, 6358939, 6358948-6358963, 6364722-6364726, 6364729, 6364753, 6364805, 6364820-6364835, 6364843, 6367060, 6367099-6367100, 6367104, 6367112, 6367116, 6367123, 6367158, 6367172, 6367177, 6367180-6367182, 6367186-6367189, 6367196, 6367201, 6367517-6367582, 6367609-6367625, 6367987-6367988, 6367998, 6368004, 6368010, 6368013, 6368041, 6368044-6368072, 6368089, 6373580-6373587, 6373601-6373640, 6373666-6373724, 6374481-6374557, 6374563, 6374579, 6374599-6374617, 6374641-6374675, 6375977-6376089, 6376096-6376105, 6376111-6376147, 6377759-6377835, 6377845-6377848, 6377857-6377878, 6377891-6377893, 6377904-6377921, 6380375-6380386, 6380390, 6380446-6380466, 6380473-6380487, 6380497-6380499, 6381295-6381338, 6381411-6381417, 6381867-6381901, 6381914, 6381925-6381948, 6381964-6381998, 6382005-6382029, 6382054-6382056, 6386892-6386951, 6459705-6459726
340ACADVL170.8805894308943123519687123304-7123319, 7123338-7123341, 7123363, 7123441-7123443, 7123448-7123450, 7123467-7123486, 7123504-7123516, 7124317, 7124873, 7124969, 7124976, 7125271-7125282, 7125306-7125308, 7125316, 7125327-7125337, 7125345, 7126036, 7126105-7126108, 7126136-7126155, 7126493, 7126518-7126522, 7126529-7126534, 7126541, 7127039, 7127133-7127135, 7127140, 7127349, 7127503, 7127508-7127509, 7127560-7127561, 7127665-7127680, 7127711, 7127867, 7127970-7127977, 7127985, 7128023-7128025, 7128028, 7128281, 7128289, 7128324, 7128343-7128389, 7128404-7128416
341CHRNB1170.984727755644092315067348456-7348468, 7348625, 7348630-7348633, 7348646, 7348723-7348724, 7350252-7350253
342MPDU1170.719086021505382097447487181-7487194, 7487198-7487214, 7487219-7487220, 7487240-7487249, 7489050-7489053, 7489318, 7489321, 7489324-7489329, 7489380, 7490089-7490090, 7490093-7490095, 7490226-7490245, 7490260-7490282, 7490297, 7490303-7490308, 7490484-7490485, 7490508-7490548, 7490744-7490752, 7490773, 7490790-7490795, 7490817-7490855
343GUCY2D170.9021739130434832433127906381-7906467, 7906504, 7906516-7906539, 7906560, 7906563-7906580, 7906584-7906586, 7906634-7906668, 7906721-7906730, 7906739, 7906750-7906753, 7906784-7906826, 7906832-7906870, 7906901, 7906949, 7906965, 7906981-7906989, 7907179-7907211, 7919090, 7919573-7919577, 7919788-7919794
344ALOX12B170.5280151946818699421067976192-7976237, 7978934-7978951, 7978997, 7979495-7979498, 7979501, 7979642-7979662, 7979983-7980021, 7980035-7980039, 7980049, 7980309-7980318, 7980342-7980437, 7980446-7980452, 7980505-7980511, 7982714-7982851, 7983087-7983127, 7983135-7983176, 7983202-7983210, 7983253-7983259, 7983579-7983622, 7983987-7984039, 7984072-7984098, 7984202-7984266, 7984424-7984505, 7989334-7989359, 7989366-7989404, 7989429-7989472, 7989483-7989485, 7989492, 7989495-7989496, 7989509-7989538, 7990631-7990700, 7990708-7990722
345ALOXE3170.99812734082397421368013238, 8013774-8013776
346HES7170.92920353982301486788024916-8024922, 8024982-8024987, 8024990, 8024997, 8025011-8025014, 8025017-8025023, 8025116-8025119, 8025231-8025247, 8025331
347MYH3170.98162459213464107582310541383, 10543002-10543018, 10543338-10543345, 10543384-10543385, 10543388, 10543391-10543392, 10544628, 10544637, 10547805, 10554863-10554873, 10555800-10555802, 10555806-10555809, 10555832-10555846, 10558178-10558190, 10558228-10558229, 10558232-10558236, 10558263-10558276, 10558279, 10558332-10558336
348ELAC2170.9754131398629661248112896178-12896219, 12898291-12898300, 12899281-12899286, 12905804, 12905896, 12915009
349TNFRSF13B170.826530612244915388216842916-16842943, 16842963-16842995, 16843058-16843075, 16843110-16843111, 16843640-16843664, 16843708-16843719, 16843739-16843751, 16843757-16843759, 16843790-16843798, 16843807, 16843813-16843816, 16843822-16843825, 16852229
350FLCN170.90114942528736172174017117061-17117067, 17122384, 17122476-17122478, 17125815-17125819, 17125837-17125892, 17127262-17127264, 17127328-17127356, 17127397, 17127445-17127457, 17129528, 17129532-17129538, 17129566-17129573, 17131217-17131247, 17131260, 17131291, 17131388, 17131398-17131401
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352ATPAF2170.98965517241379987017924461-17924468, 17931557
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460RPS19190.98630136986301643842365267-42365272
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476MYH14190.8769432171494752611150713734, 50713975, 50713978, 50713983-50713993, 50714008-50714011, 50726566, 50728842-50728847, 50728874, 50728904, 50728923-50728934, 50733819, 50733828-50733840, 50733861, 50735198, 50747519, 50747523-50747527, 50747582-50747594, 50750272-50750300, 50750366, 50750369-50750373, 50752244, 50752248, 50752369, 50752907-50753010, 50753017, 50753020-50753022, 50753032-50753035, 50753054-50753078, 50753772-50753792, 50753806-50753813, 50753830, 50753845-50753871, 50753884, 50753894-50753945, 50755958-50756006, 50758486, 50758499, 50758511-50758562, 50758574-50758575, 50760716, 50760725, 50760728-50760729, 50762410-50762434, 50762437-50762438, 50762511-50762517, 50763943-50763949, 50764739-50764755, 50764775-50764795, 50764842-50764889, 50766595-50766596, 50766599, 50766631-50766658, 50766671-50766673, 50770214-50770228, 50789906-50789920, 50789923-50789926, 50792714, 50792717, 50792790-50792837, 50794189, 50794281-50794288, 50795563-50795570, 50795576-50795590, 50796557, 50796903-50796905, 50805029-50805031
477KCNC3190.299032541776611594227450823503-50823606, 50823850-50823901, 50823915, 50823928, 50823951-50823957, 50824013, 50824016, 50824022-50824024, 50824036, 50826235-50826514, 50826521-50826541, 50826555-50826559, 50826567-50826617, 50826638-50826732, 50826767, 50826775, 50826785-50826807, 50826851-50826853, 50826877-50826944, 50826963-50826985, 50827010-50827043, 50827121, 50827176-50827222, 50827293-50827304, 50827326, 50831470-50831471, 50831483-50831554, 50831580-50831596, 50831619-50831634, 50831645, 50831659-50831669, 50831676-50831752, 50831770-50832058, 50832068-50832339
478ETFB190.74159462055716269104151848487-51848525, 51850195-51850204, 51856386-51856406, 51856440-51856504, 51856529-51856542, 51857408-51857427, 51857475-51857492, 51857561-51857591, 51857635, 51857646-51857665, 51857689-51857692, 51857724-51857747, 51857759-51857760
479NLRP12190.77997489014438701318654297327-54297338, 54297352, 54297368, 54299259-54299283, 54301523-54301540, 54301603-54301635, 54301656-54301667, 54304496-54304548, 54304568-54304609, 54304612-54304613, 54304615-54304618, 54304626, 54304637-54304638, 54307232, 54307248, 54307251, 54307279-54307290, 54307322-54307327, 54307342-54307347, 54308679-54308704, 54310776-54310783, 54310885-54310902, 54312841-54312891, 54312919, 54313037-54313058, 54313123-54313124, 54313133, 54313156-54313161, 54313272, 54313419-54313430, 54313540-54313562, 54313574-54313620, 54313654-54313681, 54313727-54313747, 54313786-54313833, 54313840-54313854, 54313888-54313895, 54313929-54313937, 54313971-54314013, 54314093-54314105, 54314176-54314180, 54314348-54314352, 54314364-54314400, 54314431-54314448
480PRKCG190.81614135625597385209454385894-54385909, 54392892-54392901, 54392909-54392912, 54392921, 54392928-54392938, 54392990, 54393152, 54393169-54393173, 54393177, 54393190-54393222, 54393262, 54394965, 54396637, 54401256, 54401259-54401260, 54401313-54401322, 54401325, 54401695, 54401747-54401768, 54401821, 54401831, 54401841-54401882, 54403931-54403944, 54403977-54404003, 54409613-54409695, 54409961-54410007, 54410020-54410030, 54410051-54410083, 54410091, 54410096, 54410102
481PRPF31190.34666666666667980150054621659-54621728, 54621754, 54621764-54621790, 54621807-54621835, 54621953-54621968, 54621982-54621996, 54625266-54625304, 54625320-54625322, 54625895, 54625937-54625973, 54626857, 54626894-54626909, 54626919-54626925, 54627128-54627180, 54627205, 54627234-54627243, 54627256, 54627269-54627270, 54627274-54627275, 54627878-54627887, 54627906-54627923, 54627934, 54627940-54627945, 54627948-54627965, 54627978-54628035, 54629921-54629992, 54631448-54631545, 54631551-54631575, 54631680-54631700, 54631707-54631752, 54632432-54632512, 54632530-54632560, 54632647-54632745, 54634738-54634761, 54634789, 54634795, 54634800-54634823, 54634847-54634861
482TSEN34190.976420150053592293354695353-54695373, 54695400
483NLRP7190.93898522800257190311455445018-55445026, 55445045-55445079, 55447663-55447665, 55447675, 55449584-55449585, 55450473, 55450811-55450838, 55450846-55450860, 55450940-55450958, 55450973-55450990, 55451052-55451060, 55451129-55451142, 55451204-55451206, 55451285-55451295, 55451587, 55452945-55452965
484TNNT1190.714828897338422578955644283, 55644292-55644328, 55645255-55645295, 55645453, 55645456-55645459, 55645505-55645524, 55648471-55648480, 55648483-55648486, 55648564-55648580, 55649332-55649341, 55652251-55652263, 55652270-55652305, 55652328, 55652618-55652625, 55652647-55652649, 55652660, 55652666, 55658049-55658064, 55658387
485TNNI3190.4893267651888331160955665398-55665416, 55665425, 55665439-55665441, 55665453-55665527, 55665548-55665574, 55666109-55666135, 55666144, 55666178-55666198, 55667582, 55667585-55667586, 55667603-55667662, 55667671-55667675, 55667685-55667686, 55667688-55667700, 55667971-55667987, 55668426-55668461, 55668470
486TPO20.8943611705924329628021480917-1480919, 1481014-1481016, 1481093, 1481101-1481107, 1481117, 1481230-1481231, 1481237, 1481342, 1497616, 1497803, 1499817, 1499927, 1520655-1520754, 1544366-1544495, 1546193-1546201, 1546213-1546246
487KLF1120.9727095516569242153910183844-10183885
488MYCN20.86451612903226189139516082305-16082311, 16082381-16082394, 16082433-16082439, 16082488-16082491, 16082529-16082536, 16082579-16082618, 16082646-16082684, 16082814-16082863, 16082898-16082903, 16082906-16082910, 16082950-16082958
489APOB20.9983932223196221369221232910-21232917, 21233208-21233209, 21250789, 21251219-21251227, 21265265, 21266804
490POMC20.981343283582091580425384426-25384428, 25384457-25384465, 25384469-25384471
491HADHA20.9799301919720846229226414360-26414362, 26414392, 26414396, 26414415-26414441, 26424042-26424049, 26437941-26437946
492OTOF20.783283283283281299599426684592, 26684771-26684792, 26685028-26685038, 26686867-26686878, 26687742, 26687819, 26687823, 26688548-26688551, 26689612-26689613, 26689623, 26689653-26689657, 26690001-26690002, 26690100-26690101, 26693487-26693488, 26693495-26693520, 26693554-26693556, 26695387-26695431, 26695440, 26695469-26695484, 26696091, 26696094, 26696110, 26696134-26696162, 26696279, 26696880-26696881, 26696894-26696978, 26697381-26697490, 26697499, 26697510-26697512, 26697526, 26697538-26697542, 26698276-26698282, 26698330, 26698335-26698346, 26698353, 26698793-26698796, 26698809, 26698854-26698879, 26698996-26699046, 26699056-26699057, 26699074-26699113, 26699130-26699185, 26699759-26699795, 26699801-26699802, 26699818-26699911, 26700040-26700071, 26700083, 26700087-26700156, 26700304, 26700308-26700311, 26700334, 26700337-26700341, 26700346-26700353, 26700373-26700374, 26700517-26700560, 26700585-26700590, 26702168-26702202, 26702215, 26702247-26702252, 26702360-26702410, 26702430-26702433, 26702485-26702521, 26703071-26703095, 26703114-26703139, 26703668-26703692, 26703731-26703772, 26703802-26703812, 26703819-26703820, 26705325-26705326, 26705348-26705354, 26705410-26705460, 26706330-26706342, 26706376-26706408, 26706421-26706422, 26707364-26707367, 26707379, 26712135-26712140, 26712144-26712145, 26712595-26712601
493EIF2B420.998774509803922163227592304, 27592860
494ALK20.9962985811227618486329443608-29443625
495SPAST20.92490545650999139185132288954-32288965, 32288986-32289025, 32289065-32289067, 32289077, 32289080, 32289083-32289090, 32289124-32289134, 32289194-32289238, 32289298-32289315
496CYP1B120.76348039215686386163238301582-38301583, 38301599, 38301655-38301675, 38301682, 38301886, 38301892-38301895, 38301923, 38301926, 38301929-38301938, 38301944-38302035, 38302047-38302070, 38302142-38302153, 38302171-38302244, 38302260, 38302263-38302283, 38302294-38302325, 38302336-38302341, 38302383-38302407, 38302415-38302427, 38302444-38302482, 38302496, 38302499-38302501, 38302526
497SOS120.9967516241879113400239224394-39224405, 39224416
498ABCG520.90286298568507190195644049953-44049960, 44055122-44055130, 44055152-44055174, 44058935-44058979, 44058987, 44059096-44059100, 44059106-44059161, 44059196-44059209, 44059222, 44065042-44065049, 44065064-44065066, 44065676-44065690, 44065698, 44065785
499ABCG820.87636003956479250202244066239-44066245, 44078831-44078861, 44079544-44079559, 44079568, 44079910-44079911, 44079986, 44099166-44099175, 44099209-44099230, 44099258-44099262, 44099419-44099445, 44100926-44100950, 44100969-44100992, 44101082-44101114, 44102285-44102288, 44102356-44102384, 44102482-44102494
500LRPPRC20.9968936678614113418544222987, 44222998, 44223013-44223023
501SIX320.977977977977982299945169337-45169344, 45169430-45169432, 45169642-45169649, 45169788-45169790
502EPCAM20.962962962962963594547596645-47596649, 47596662-47596690, 47596710
503MSH220.9704099821746983280547630348-47630371, 47630437-47630440, 47630455-47630479, 47698125-47698146, 47707955, 47707979-47707984, 47710086
504MSH620.987754102375750408348010412-48010413, 48010471-48010484, 48010515, 48010527, 48010545-48010548, 48010594-48010621
505LHCGR20.9871428571428627210048982753-48982779
506ATP6V1B120.979896238651131154271163094-71163111, 71163202, 71192143-71192154
507DYSF20.87971698113208765636071780185-71780193, 71789046, 71789053-71789070, 71796976, 71797787-71797794, 71801336-71801340, 71801413-71801448, 71825705, 71825787-71825875, 71827898-71827912, 71827932-71827953, 71828650-71828651, 71829909-71829928, 71838375-71838383, 71838391, 71838406-71838476, 71838595-71838756, 71839771-71839936, 71840464-71840513, 71840523-71840532, 71840535-71840540, 71847677-71847739
508SPR20.7340966921119620978673114566-73114581, 73114596-73114660, 73114703-73114761, 73114794-73114811, 73114835-73114865, 73115608, 73115611-73115614, 73115658-73115670, 73118486, 73118540
509ALMS120.9962412028151471250473613028-73613074
510SLC4A520.9935559461042822341474489306-74489327
511DCTN120.998957518894974383774588634, 74590478, 74593020, 74598784
512MOGS20.84765314240255383251474688465-74688466, 74688689, 74688767-74688808, 74688818, 74688910, 74688930, 74688980, 74689024, 74689042, 74689051, 74689152, 74689257-74689259, 74689265, 74689273-74689279, 74689380, 74689535, 74689549-74689563, 74689732, 74689758-74689773, 74689840-74689845, 74689849, 74689922, 74689940-74689941, 74689946-74689952, 74689957, 74690000-74690004, 74690034-74690035, 74691638-74691670, 74691713-74691721, 74691747-74691750, 74691781, 74691838-74691849, 74692035-74692037, 74692073, 74692076, 74692100-74692130, 74692145, 74692157-74692191, 74692203-74692229, 74692237-74692293, 74692310, 74692314-74692332, 74692342-74692366
513HTRA220.998547567175022137774757246, 74757249
514GGCX20.9907773386034321227785787982-85787986, 85788016-85788017, 85788023, 85788529-85788530, 85788533, 85788542-85788551
515SFTPB20.997382198952883114685895298-85895300
516REEP120.976897689768981460686459761-86459762, 86459806, 86459811, 86564624-86564633
517EIF2AK320.9737391823336388335188876148-88876151, 88883014, 88883021-88883026, 88887551, 88926491, 88926496-88926498, 88926575, 88926722-88926792
518TMEM12720.7935843793584414871796919569-96919576, 96919640-96919642, 96930876-96930884, 96930927-96930945, 96930982-96930999, 96931018-96931108
519ZAP7020.9612903225806572186098340512, 98340610-98340621, 98340791-98340825, 98340875-98340884, 98349376, 98349656-98349657, 98349767, 98349770, 98350007-98350008, 98351717-98351723
520RANBP220.971162790697672799675109345588-109345589, 109347317-109347341, 109347853-109347859, 109347902-109347930, 109352077-109352118, 109352188, 109352560-109352561, 109352609, 109357110-109357116, 109363251-109363254, 109365376, 109368104-109368110, 109368433, 109371361-109371402, 109378557, 109378609-109378633, 109378645-109378651, 109382601-109382607, 109382774-109382793, 109383084-109383090, 109384597-109384637
521MERTK20.99366666666667193000112656314-112656332
522IL1RN20.994382022471913534113885239-113885240, 113890307
523PAX820.9992609016999311353113993003
524GLI220.7553035076664611654761121554905, 121708819-121708842, 121708846-121708847, 121708871-121708902, 121708935-121708976, 121708986-121708995, 121709004-121709017, 121712934-121712957, 121712969-121712988, 121726361, 121726447, 121728008-121728030, 121728120, 121728146-121728148, 121728174, 121729574-121729616, 121729632-121729639, 121742240, 121743930, 121745828, 121745863-121745865, 121745894-121745938, 121745969, 121745985-121746013, 121746020, 121746030, 121746039, 121746046, 121746083-121746421, 121746436, 121746453-121746455, 121746496-121746602, 121746608-121746638, 121746661-121746702, 121746710, 121746715, 121746730-121746761, 121746796-121746830, 121746895-121746932, 121746956, 121747012-121747016, 121747047, 121747050-121747065, 121747071-121747074, 121747105-121747122, 121747143-121747150, 121747157-121747158, 121747162-121747168, 121747249-121747254, 121747336-121747383, 121747406, 121747411, 121747429, 121747432-121747434, 121747441-121747447, 121747451-121747458, 121747461-121747463, 121747474, 121747489-121747496, 121747499, 121747510-121747514, 121747530, 121747541-121747545, 121747554-121747562, 121747628-121747630, 121747633, 121747663, 121747668, 121747671-121747679, 121747690, 121747693-121747695, 121747818-121747820, 121747826, 121747862, 121747867-121747868, 121748044, 121748047, 121748052, 121748222
525BIN120.882716049382722091782127806102, 127806118-127806119, 127806151-127806152, 127808014-127808031, 127808040-127808062, 127808429-127808430, 127808434-127808453, 127808480-127808483, 127808730-127808752, 127808777-127808784, 127811550-127811563, 127811582-127811588, 127815049-127815063, 127815080-127815091, 127815120, 127815164, 127815169, 127815175, 127816674-127816685, 127819691-127819692, 127819765-127819766, 127821552, 127827638, 127828376-127828392, 127834231, 127864436-127864437, 127864463-127864478
526PROC20.95598845598846611386128177520-128177533, 128178945, 128180647-128180657, 128180698-128180706, 128180709-128180723, 128180730-128180732, 128180736, 128180850-128180855, 128180921
527CFC120.66071428571429228672131279624-131279625, 131279681, 131279688, 131280363-131280422, 131280438, 131280441, 131280470, 131280476, 131280742-131280749, 131280756-131280758, 131280774-131280786, 131280793-131280825, 131285292-131285325, 131285335-131285359, 131285370-131285413
528LCT20.99118257261411515784136558236-136558256, 136558379, 136564712-136564719, 136566532-136566552
529ZEB220.999725651577513645145156726
530NEB20.99954941423851919974152372988-152372991, 152372996-152372997, 152382705-152382707
531ITGA620.98901098901099363276173292517-173292527, 173292543, 173292550, 173292555-173292568, 173292595-173292603
532HOXD1320.771317829457362361032176957619-176957817, 176957957-176957977, 176957999, 176958036, 176958199, 176958247, 176958263-176958274
533DFNB5920.997167138810231059179319245-179319247
534TTN20.999960098954594100248179437707, 179514894-179514895, 179514898
535CERKL20.97373358348968421599182468624-182468627, 182468647, 182468682-182468684, 182468687-182468690, 182468696-182468697, 182468704-182468705, 182468710-182468719, 182468766-182468781
536COL3A120.9995455578277724401189855730-189855731
537CASP820.9944341372912891617202149608-202149610, 202149623-202149624, 202149661, 202149664-202149665, 202149668
538NDUFS120.9977106227106252184207017190-207017194
539PNKD20.96718480138169381158219136204-219136206, 219136217, 219206270-219206298, 219206711-219206715
540BCS1L20.9960317460317551260219525887-219525890, 219527324
541WNT10A20.96092503987241491254219745718-219745719, 219745722, 219745725, 219745769-219745770, 219757548-219757563, 219757607-219757610, 219757615, 219757618, 219757662, 219757872, 219757885-219757903
542DES20.9518754423213681413220283185-220283188, 220283358-220283359, 220283446-220283449, 220283603-220283627, 220283696-220283728
543OBSL120.905991917062035355691220416430-220416452, 220416465-220416488, 220416872-220416909, 220417266, 220417275-220417278, 220417282-220417291, 220417301-220417303, 220417348-220417374, 220417408-220417411, 220417598-220417626, 220417632, 220417699-220417706, 220417726-220417746, 220418350, 220419292, 220419298-220419299, 220420770, 220420780, 220423034-220423041, 220435054-220435092, 220435375-220435376, 220435384-220435391, 220435476-220435524, 220435561-220435591, 220435598-220435600, 220435603-220435641, 220435643-220435644, 220435668-220435694, 220435718-220435749, 220435754-220435763, 220435811-220435828, 220435832, 220435876-220435885, 220435898-220435954
544SLC19A320.9953051643192571491228563974-228563980
545CHRND20.693050193050194771554233390926-233390977, 233391264, 233391298, 233393258-233393259, 233393264-233393266, 233393345, 233393596, 233393613-233393617, 233393652-233393673, 233394649-233394690, 233394727-233394728, 233394733, 233394757, 233394761-233394815, 233394822-233394824, 233394827-233394837, 233396092-233396110, 233396132-233396160, 233396252-233396320, 233396330-233396352, 233398647-233398656, 233398659, 233398672, 233398682-233398700, 233398738-233398740, 233398768, 233398805-233398816, 233398823-233398833, 233398957-233398982, 233399040, 233399847-233399878, 233399900, 233399944, 233399953-233399967
546CHRNG20.927927927927931121554233404819-233404826, 233405333-233405345, 233405411-233405413, 233406089-233406096, 233408375-233408378, 233409092, 233409095-233409097, 233409104-233409107, 233409121, 233409149, 233409153-233409155, 233409188, 233409214-233409241, 233409528-233409557, 233409591-233409594
547SAG20.999178981937611218234243608
548COL6A320.99202852947346769534238249095-238249096, 238249280-238249283, 238271952-238271957, 238303239-238303253, 238303256, 238303431-238303444, 238303493-238303506, 238303554-238303573
549AGXT20.826972010178122041179241808283, 241808292-241808314, 241808323, 241808332-241808346, 241808373-241808398, 241808415, 241808421-241808434, 241808442-241808443, 241808598-241808634, 241808657-241808694, 241810063-241810070, 241810118, 241810124-241810125, 241810770-241810799, 241813453, 241817019-241817022
550D2HGDH20.751596424010223891566242674640-242674658, 242674877, 242689579, 242689592-242689609, 242689690-242689706, 242690700, 242690733, 242690750-242690790, 242695274-242695284, 242695288-242695289, 242695295-242695296, 242695320-242695329, 242695350, 242695355-242695363, 242695376-242695429, 242707125-242707135, 242707148-242707169, 242707183-242707201, 242707212-242707282, 242707288-242707338, 242707358-242707384
551C20orf54200.9992907801418411410744535
552AVP200.567676767676772144953063316-3063383, 3063389-3063433, 3063623-3063628, 3063640-3063669, 3063678-3063694, 3063716-3063754, 3063772, 3063775-3063782
553PANK2200.9130180969060114917133869749, 3869754, 3869784, 3869794-3869795, 3869952-3869955, 3869960, 3869989-3870038, 3870080, 3870086-3870087, 3870091-3870111, 3870114-3870116, 3870122-3870124, 3870145-3870151, 3870183-3870196, 3870258-3870294, 3870368
554PRNP200.9986876640419917624680064
555FERMT1200.9960668633235820346078214-6078221
556JAG1200.97183483729833103365710653349-10653359, 10653452-10653491, 10653522-10653524, 10653593-10653601, 10653611, 10653652-10653654, 10654105-10654110, 10654149-10654178
557THBD200.9739583333333345172823029303-23029319, 23029550-23029555, 23029690-23029699, 23029771-23029782
558SNTA1200.82476943346509266151831998068, 32000102-32000109, 32000385-32000420, 32000466-32000469, 32031154-32031193, 32031200-32031264, 32031290-32031333, 32031341, 32031358-32031367, 32031369-32031425
559GDF5200.980079681274930150634021900, 34022283-34022285, 34022353, 34022399-34022404, 34022422, 34025122-34025124, 34025301, 34025408-34025421
560SAMHD1200.9797979797979838188135526225-35526254, 35526275-35526282
561HNF4A200.9305263157894799142543047093, 43047104-43047106, 43052658-43052685, 43052749-43052754, 43052771-43052803, 43052846-43052870, 43052891-43052893
562ADA200.994505494505496109243257760-43257765
563CTSA200.90380761523046144149744520208-44520294, 44520326, 44520334, 44520353, 44520365-44520366, 44520378, 44520565, 44523336-44523345, 44523637, 44523689-44523710, 44523733, 44523749-44523751, 44523763, 44526680-44526684, 44526693, 44526698, 44526713-44526716, 44527035
564SALL4200.9949399114484516316250406583, 50408346-50408348, 50408351-50408357, 50418829-50418831, 50418842-50418843
565PCK1200.9534510433386887186956136527-56136555, 56137184-56137187, 56137761-56137781, 56137886, 56138141-56138167, 56138227-56138229, 56139402-56139403
566STX16200.99897750511247197857246349
567GNAS200.895663956639577773857415198-57415201, 57415239-57415246, 57415322-57415335, 57415465-57415472, 57415666-57415668, 57415831-57415870
568GNAS200.79351316634554643311457428418-57428428, 57428503-57428505, 57428528, 57428531-57428536, 57429058-57429070, 57429075, 57429078, 57429097-57429112, 57429153-57429154, 57429193-57429232, 57429243-57429273, 57429332-57429342, 57429408-57429418, 57429440-57429485, 57429504-57429548, 57429610-57429616, 57429619-57429627, 57429640-57429647, 57429652-57429783, 57429795-57429810, 57429837-57429876, 57429889-57429905, 57429972-57430038, 57430073, 57430120-57430147, 57430166-57430169, 57430172-57430176, 57430250-57430279, 57430348-57430388
569COL9A3200.480778588807791067205561448417-61448494, 61448922-61448987, 61449870-61449905, 61450574-61450602, 61450618-61450645, 61451294-61451298, 61451301-61451304, 61451333, 61452533-61452540, 61452550, 61452553, 61452556, 61452859, 61452863-61452864, 61452882, 61453109-61453122, 61453128-61453129, 61453142, 61453154-61453156, 61453463-61453471, 61453479-61453516, 61453943-61453979, 61455797-61455812, 61455819-61455853, 61456320-61456373, 61457169-61457186, 61457194-61457195, 61457213, 61457558, 61457563-61457571, 61457587-61457609, 61458123-61458172, 61458615-61458621, 61459275-61459279, 61459285-61459286, 61459322-61459328, 61460146-61460157, 61460165-61460168, 61460275-61460320, 61460807-61460808, 61460817-61460844, 61460980-61461031, 61461118-61461129, 61461136-61461159, 61461725-61461765, 61461869-61461927, 61461936, 61463506-61463519, 61463522, 61463530-61463533, 61464372-61464416, 61467273-61467274, 61467287-61467289, 61467539-61467543, 61467558-61467580, 61467590-61467624, 61467644-61467660, 61467685, 61467830-61467841, 61468521-61468524, 61468575, 61468581-61468600, 61468604, 61471920, 61471948
570CHRNA4200.0451167728237791799188461978090-61978171, 61978179-61978215, 61981005-61981393, 61981403-61981835, 61981858-61982002, 61982019-61982094, 61982104-61982201, 61982219-61982341, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
571KCNQ2200.187857961053842127261962037997-62038660, 62038687-62038728, 62039766-62039818, 62039841-62039874, 62039877, 62044803-62044839, 62044873-62044881, 62044893-62044934, 62045441-62045456, 62045483-62045488, 62045546, 62046256-62046376, 62046387, 62046391-62046397, 62046406-62046422, 62050977, 62050980-62050998, 62055535, 62059730-62059734, 62059748-62059773, 62059781-62059788, 62062693-62062722, 62065162-62065203, 62065242-62065256, 62069978-62069992, 62070007, 62070011-62070033, 62070073, 62070951-62071032, 62073759-62073884, 62076012-62076187, 62076591-62076606, 62076616-62076717, 62078100-62078190, 62103521-62103816
572SOX18200.0354978354978351114115562679519-62679592, 62679602-62679605, 62679608-62679609, 62679625-62679878, 62679885-62680274, 62680284-62680315, 62680512-62680869
573APP210.9878945092952928231327542911-27542938
574IFNGR2210.9280078895463573101434775850-34775922
575RCAN1210.891963109354418275935987167-35987195, 35987243-35987294, 35987306
576RUNX1210.9909909909909913144336164460, 36259253-36259264
577CLDN14210.787515372037833274-37833301, 37833373-37833377, 37833520-37833536, 37833591-37833597, 37833605-37833646, 37833793-37833839, 37833928-37833932, 37833973-37833974
578TMPRSS3210.9853479853479920136543795842-43795860, 43805524
579CBS210.78200483091787361165644473990-44473997, 44474008-44474016, 44474023-44474026, 44474063-44474067, 44474093, 44476913-44476943, 44476990-44476997, 44478334-44478337, 44478362-44478363, 44478944-44478987, 44479042-44479047, 44479055, 44479074, 44480565-44480597, 44482421-44482443, 44483064-44483067, 44483076-44483092, 44483171-44483176, 44484037-44484040, 44485319, 44485335-44485338, 44485340-44485347, 44485602-44485617, 44485752-44485760, 44485776, 44485793-44485795, 44488619-44488627, 44488644, 44488647-44488659, 44488670, 44488686-44488720, 44492101-44492106, 44492171-44492179, 44492186, 44492197, 44492202-44492211, 44492253-44492257, 44492265-44492271, 44492288, 44492291, 44492296-44492303
580CSTB210.885521885521893429745196093-45196108, 45196133-45196150
581AIRE210.0109890109890111620163845705890-45706021, 45706440-45706614, 45706861-45706910, 45706918-45707016, 45707400-45707474, 45708228-45708341, 45709540-45709685, 45709871-45709951, 45710978-45711093, 45712185-45712284, 45712876-45713058, 45713672-45713749, 45713761-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
582ITGB2210.77489177489177520231046306651-46306652, 46306753-46306805, 46308608-46308651, 46308668-46308695, 46308701-46308732, 46308747, 46308754-46308761, 46308774-46308781, 46308784-46308810, 46309194, 46309218-46309220, 46309225, 46309238, 46309291-46309292, 46309295-46309312, 46309325, 46309358-46309360, 46309387-46309407, 46309926-46309934, 46309965-46309970, 46309979, 46309981-46309982, 46309992-46309994, 46310024-46310048, 46310079-46310097, 46311724-46311756, 46311769-46311802, 46311832-46311839, 46311847, 46311853-46311870, 46311894-46311911, 46313419-46313456, 46320345, 46320354-46320355, 46326830-46326870, 46326928-46326934
583COL18A1210.380816714150053260526546875454-46875482, 46875515, 46875700-46875703, 46875706, 46875738-46875757, 46875768-46875776, 46875856, 46875859, 46875871, 46875881-46875884, 46875951-46875984, 46876027-46876044, 46876100-46876117, 46876171-46876174, 46876179, 46876185-46876198, 46876201-46876253, 46876261-46876287, 46876332-46876333, 46876350-46876398, 46876425-46876427, 46876450-46876468, 46876472, 46876494-46876575, 46876599-46876708, 46876729-46876749, 46888156-46888165, 46888174-46888221, 46888228-46888270, 46888297-46888299, 46888322-46888325, 46888349-46888357, 46888380-46888394, 46888397-46888400, 46888405, 46888410-46888448, 46888473-46888500, 46888516-46888556, 46888580-46888589, 46888593, 46888599, 46888628-46888646, 46888649, 46888652, 46893814, 46893831, 46893834, 46893850-46893894, 46896293, 46896308-46896321, 46896325-46896370, 46896374, 46897360-46897395, 46897672-46897675, 46897700-46897740, 46897759-46897761, 46897777, 46897783-46897787, 46897792-46897805, 46897810, 46897813, 46897841-46897843, 46897847, 46897850-46897852, 46897864-46897865, 46899838-46899878, 46899984-46899991, 46900024-46900056, 46900381-46900389, 46900418-46900419, 46900430, 46900660-46900680, 46900693-46900751, 46900758-46900772, 46901884-46901906, 46901931-46901939, 46902725-46902735, 46906775-46906814, 46906821-46906906, 46907385, 46907396-46907423, 46908332-46908339, 46908349-46908356, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915295-46915296, 46915317-46915320, 46915333-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917541, 46917553, 46917556, 46917559-46917562, 46917568-46917575, 46923925-46923968, 46924344-46924470, 46925048-46925125, 46925137-46925192, 46925272-46925276, 46925286-46925327, 46925333-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929309, 46929313-46929334, 46929337-46929338, 46929349, 46929358, 46929361-46929371, 46929376, 46929399-46929400, 46929414, 46929421-46929424, 46929428-46929433, 46929447-46929515, 46929978-46930134, 46930140-46930175, 46931025-46931133, 46932102-46932111, 46932122-46932145, 46932151-46932241, 46932260-46932287
584COL6A1210.489795918367351575308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409541, 47409556-47409566, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410689, 47410706-47410724, 47410908, 47410922-47410924, 47410931, 47410943-47410946, 47411930-47411932, 47411938-47411968, 47411978, 47412078-47412131, 47412297-47412299, 47412673, 47412680-47412709, 47412724, 47414081-47414114, 47414126-47414131, 47417335-47417336, 47417339-47417348, 47417375-47417385, 47417614-47417615, 47417625, 47417636-47417676, 47418035-47418040, 47418066-47418085, 47418312-47418321, 47418324, 47418328, 47418811-47418873, 47419067-47419090, 47419126-47419131, 47419595-47419599, 47420261-47420265, 47421274-47421297, 47421905-47421906, 47421909-47421911, 47421921-47421925, 47422135, 47422180-47422184, 47422277, 47422532-47422550, 47422593-47422595, 47423389, 47423470-47423539, 47423542, 47423607-47423611, 47423750-47423756, 47423810-47423812, 47423858-47423890, 47423924
585COL6A2210.0866013071895432795306047531391-47531505, 47531893-47532084, 47532095-47532098, 47532108-47532139, 47532148-47532190, 47532216-47532220, 47532236, 47532252-47532253, 47532256, 47532270-47532315, 47532343-47532373, 47532397-47532443, 47532468-47532489, 47533922-47533944, 47533963-47533964, 47533975-47533978, 47533984, 47535786-47535839, 47535923-47535967, 47536291-47536317, 47536565-47536591, 47536684-47536728, 47537314-47537367, 47537788-47537850, 47538528-47538590, 47538944-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544627, 47544799-47544834, 47545180-47545225, 47545379-47545418, 47545434-47545483, 47545504-47545531, 47545699-47546151, 47546417-47546455, 47551868-47552466
586COL6A221034234247552183-47552524
587FTCD2101626162647556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
588PCNT210.917390870042958271001147744143-47744180, 47744189-47744196, 47746425, 47766122, 47766821-47766825, 47766828, 47766831, 47766835, 47766841, 47773206, 47783747-47783768, 47786564, 47786567, 47786610-47786658, 47786669-47786701, 47786704, 47786739-47786774, 47786803, 47786817, 47786869, 47786872, 47786999, 47787005-47787044, 47787052-47787054, 47801686-47801726, 47805816, 47805883-47805898, 47808733-47808735, 47808772-47808799, 47817345-47817355, 47831446-47831457, 47836135, 47836416-47836443, 47836450-47836482, 47836665-47836694, 47836723-47836749, 47841884-47841904, 47841911-47841915, 47841947-47841962, 47845847-47845851, 47847559-47847560, 47847623-47847650, 47847687-47847695, 47848309, 47848313, 47848319, 47848322, 47848361-47848370, 47848377-47848388, 47848398, 47848401-47848416, 47848441-47848480, 47848489-47848504, 47849938, 47850043, 47850081, 47850103, 47850110-47850146, 47850458-47850495, 47850506-47850508, 47850519, 47850534, 47850537, 47850556-47850568, 47851590, 47851667-47851668, 47851729, 47851833-47851835, 47851838-47851841, 47851953-47851965, 47852063-47852077, 47852086-47852087, 47855985-47856000, 47856038, 47856058-47856061, 47860040, 47863853
589PRODH220.68386023294509570180318900750, 18900763, 18900783-18900826, 18900982-18900983, 18901004, 18901011-18901025, 18901028-18901031, 18904403-18904415, 18904474-18904475, 18904485, 18905829-18905832, 18905840-18905846, 18905859, 18905906, 18906979-18906986, 18907080, 18907219-18907251, 18907285-18907311, 18908893-18908901, 18908914, 18908917, 18910338-18910344, 18910358-18910361, 18910413-18910425, 18910643, 18910683-18910692, 18912577-18912578, 18912599-18912614, 18918503-18918506, 18918533-18918594, 18918642, 18923528-18923800
590GP1BB22062162119711093-19711102, 19711377-19711987
591TBX1220.296370967741941047148819747167-19747200, 19748428-19748755, 19748774-19748779, 19748799-19748803, 19750796-19750823, 19751715, 19751744-19751750, 19751753, 19751821-19751842, 19752481-19752484, 19752574, 19753289-19753318, 19753328-19753348, 19753425-19753525, 19753912-19754246, 19754268-19754390
592SMARCB1220.85319516407599170115824129358, 24129394-24129396, 24129401, 24134057-24134058, 24135746-24135752, 24135875, 24143268, 24145532, 24145536, 24145541-24145542, 24145545-24145547, 24145575, 24167487-24167490, 24167523-24167524, 24167536-24167537, 24175759-24175774, 24175786-24175792, 24175800-24175873, 24175876-24175880, 24175884-24175885, 24176328-24176350, 24176357-24176367
593HPS4220.9924242424242416211226849272-26849277, 26854439-26854442, 26854537, 26859905, 26860010-26860013
594CHEK2220.9528676888131783176129083895-29083923, 29083946-29083965, 29085150-29085171, 29091837-29091844, 29126412-29126414, 29126418
595NF2220.9798657718120836178830000002-30000023, 30000045, 30000063-30000075
596TCN2220.9688473520249240128431003322, 31011288-31011293, 31011714, 31018993, 31019064-31019070, 31022447-31022459, 31022490-31022500
597DRG1220.999094202898551110431796680
598MYH9220.95784463708992248588336688083-36688087, 36688094-36688100, 36688120-36688121, 36689415-36689457, 36689815-36689819, 36690203, 36690212-36690213, 36696201-36696204, 36697070, 36697075, 36697081-36697083, 36697590, 36697597-36697648, 36697677, 36698614-36698651, 36700050, 36700093-36700097, 36700169, 36701081-36701101, 36702480-36702485, 36708100-36708111, 36708114-36708121, 36710226-36710227, 36712579, 36712598, 36714252-36714266, 36716299-36716302, 36718497-36718500, 36744966
599TRIOBP220.95167652859961343709838122005-38122028, 38122116-38122127, 38122492-38122494, 38129381-38129419, 38130421-38130426, 38130460, 38130463-38130472, 38130526, 38130532-38130539, 38130616-38130630, 38130658, 38130744, 38130747-38130762, 38130798-38130805, 38130902-38130926, 38131026-38131051, 38131223-38131229, 38131258-38131274, 38131416-38131426, 38136946-38136949, 38147779, 38151173-38151175, 38151180-38151189, 38153692-38153696, 38153909-38153947, 38155247-38155260, 38161724-38161732, 38161742, 38161747, 38164162, 38165166-38165189
600SOX10220.9828693790149924140138373990-38373991, 38379403, 38379407-38379412, 38379415, 38379547, 38379562, 38379569, 38379650, 38379694-38379697, 38379705-38379708, 38379735, 38379750
601PLA2G622048948938508274-38508312, 38508511-38508584, 38509494-38509869
602PLA2G6220.404378356051221442242138508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511688, 38512082-38512218, 38516766-38516863, 38516876-38516916, 38519102-38519265, 38522378-38522401, 38522414-38522419, 38522425-38522428, 38522449-38522456, 38524276-38524310, 38524332-38524384, 38524404-38524405, 38524408-38524423, 38524436-38524437, 38525461-38525554, 38528838-38528852, 38528863, 38528874-38528987, 38529000-38529013, 38531022, 38531040-38531043, 38531053, 38531059-38531064, 38536058-38536064, 38536071, 38536076, 38536085, 38539226-38539273, 38541494, 38541499
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718COL11A260.998848589522166521133139502-33139506, 33139508
719SYNGAP160.9848710317460361403233388042-33388074, 33388081-33388108
720RPS1060.9859437751004749834392465-34392471
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723LHFPL560.937878787878794166035773449-35773455, 35773510-35773542, 35773714
724MOCS160.78859236002093404191139883821-39883822, 39893422-39893589, 39895068-39895094, 39895111-39895317
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768BRAF70.997392438070462301140624404-140624409
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780FGFR180.99959399106781246338271518
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808SPTLC190.992967651195510142294877638-94877647
809FBP190.9695181907571331101797401423-97401453
810FANCC90.9916517590936214167797873795, 97897687-97897689, 97897744-97897748, 97897765, 97897777-97897779, 97897782
811PTCH190.95925414364641177434498209425-98209427, 98209452, 98209500, 98209552-98209573, 98209611-98209612, 98211434, 98211437, 98220373-98220375, 98220389, 98220402-98220406, 98270490-98270497, 98270504-98270615, 98270627-98270643
812FOXE190.554367201426035001122100616197-100616231, 100616260-100616283, 100616298-100616333, 100616347-100616364, 100616392, 100616397-100616411, 100616416-100616422, 100616522, 100616547-100616571, 100616574, 100616577, 100616580, 100616605-100616648, 100616665-100616737, 100616755-100616833, 100616883-100616931, 100617063-100617101, 100617112-100617115, 100617138-100617143, 100617165-100617205
813TGFBR190.96560846560847521512101867496-101867541, 101867548-101867549, 101867566-101867569
814ALDOB90.9990867579908711095104189770
815ALAD90.9305135951661669993116150624-116150634, 116151886-116151898, 116151903, 116152715-116152724, 116152878-116152884, 116153142-116153152, 116153824-116153830, 116153894-116153895, 116153900, 116155727-116155732
816DFNB3190.97834067547724592724117165111-117165115, 117165215-117165216, 117165603-117165609, 117166294, 117168635-117168641, 117168671, 117168813-117168819, 117168978-117168980, 117168986, 117168996, 117169009-117169010, 117169040, 117240843-117240847, 117266853-117266858, 117266865-117266874
817NR5A190.341269841269849131386127245037-127245054, 127245086-127245114, 127245138-127245140, 127245153-127245214, 127245271-127245272, 127253388, 127253413-127253425, 127253445-127253507, 127255309-127255328, 127255334, 127255345, 127255355-127255356, 127255370, 127255383-127255404, 127255428, 127262369-127262472, 127262494-127262524, 127262538-127262558, 127262579-127262628, 127262659-127262667, 127262670-127262671, 127262698, 127262723-127262933, 127262967, 127265358-127265499, 127265573-127265674
818LMX1B90.94369973190349631119129376806-129376846, 129376855, 129376859-129376861, 129376864-129376867, 129377663-129377664, 129455545-129455555, 129456061
819STXBP190.9977924944812441812130374716-130374719
820ENG90.679817905918066331977130577961-130577970, 130578004, 130578018-130578022, 130578026-130578031, 130578048-130578049, 130578058-130578064, 130578081-130578085, 130578222-130578266, 130578283-130578332, 130579428-130579436, 130579467, 130580399-130580400, 130580410-130580425, 130580446-130580494, 130580515-130580575, 130580585, 130580588, 130580598, 130580601, 130580628-130580629, 130580656, 130581006-130581054, 130582236-130582247, 130586583-130586596, 130586682, 130586686-130586697, 130586717-130586725, 130587091, 130587098-130587121, 130587131, 130587150, 130587160-130587167, 130587182, 130587543-130587581, 130587593-130587636, 130587982-130588021, 130588070-130588079, 130588085, 130588091, 130588115, 130588857, 130588891-130588894, 130592015, 130592023, 130592026, 130605512-130605524, 130616568-130616634
821GLE190.96948020982356642097131267167-131267169, 131271174, 131285997-131285998, 131286026-131286035, 131295833-131295847, 131295870-131295878, 131296066, 131296116-131296122, 131296164-131296170, 131296207-131296212, 131298697-131298699
822DOLK90.64564007421155731617131708115-131708117, 131708134-131708135, 131708142, 131708161, 131708209-131708237, 131708284, 131708398, 131708451, 131708454, 131708467-131708507, 131708542-131708560, 131708570-131708573, 131708656-131708658, 131708663-131708680, 131708727-131708734, 131708769-131708789, 131708798-131708806, 131708815-131708841, 131708878-131708904, 131708919-131708939, 131708988-131709060, 131709092-131709104, 131709112-131709143, 131709184, 131709227-131709243, 131709272-131709277, 131709287, 131709293, 131709303-131709307, 131709355-131709436, 131709457-131709498, 131709504-131709551, 131709553, 131709570-131709582
823TOR1A90.9329329329329367999132586198-132586207, 132586223, 132586268, 132586272-132586278, 132586283-132586288, 132586298, 132586311-132586351
824ASS190.828894269572242121239133327702-133327720, 133333794, 133333802-133333803, 133333808, 133333813, 133333827-133333857, 133333871-133333873, 133333876-133333913, 133333939-133333976, 133346237-133346238, 133346246-133346250, 133346279-133346283, 133346878-133346883, 133364790-133364797, 133370347, 133370360-133370410
825POMT190.907713498622592012178134379674, 134393860-134393898, 134394228-134394230, 134394237-134394242, 134394246-134394249, 134394264-134394267, 134394282, 134394288, 134394291-134394299, 134394307-134394308, 134394331-134394344, 134394809, 134394823-134394861, 134394866, 134395511, 134395514, 134396775-134396810, 134396833, 134396838, 134397442, 134397456-134397458, 134397471-134397476, 134397502-134397520, 134397586, 134398319-134398323, 134398396
826TTF190.9996320824135412718135267471
827TSC190.98912732474964383495135771914-135771935, 135771985, 135771988-135771996, 135772838-135772843
828CEL90.725671510347866232271135937444, 135940027-135940036, 135940099, 135940575, 135940578, 135941995, 135942323, 135944521-135944544, 135944583-135944589, 135945985-135946018, 135946390, 135946442-135946483, 135946550-135946901, 135946917-135947002, 135947010-135947038, 135947060-135947091
829SURF190.41306755260244530903136218768-136218777, 136218828, 136218916-136218940, 136218955-136218997, 136219308-136219325, 136219339-136219385, 136219402, 136219406, 136219425-136219426, 136219553-136219561, 136220604-136220667, 136220694-136220764, 136220769-136220793, 136221514-136221525, 136221536-136221537, 136221541-136221557, 136221593-136221596, 136221679-136221723, 136221745, 136221750-136221769, 136221787-136221790, 136221803-136221804, 136223124-136223175, 136223276-136223329
830ADAMTS1390.6447245564892615224284136289492-136289496, 136289515, 136290664, 136290719-136290725, 136291097-136291100, 136291112, 136291427, 136291462-136291464, 136293754-136293891, 136295059-136295221, 136297764-136297796, 136298498-136298499, 136298519-136298582, 136298601-136298627, 136298776-136298777, 136298781-136298791, 136298799, 136301970-136302003, 136302009, 136302017, 136302022-136302063, 136302875, 136302922-136302937, 136302965, 136302973, 136302986-136302990, 136302993-136302996, 136303005-136303006, 136303010-136303017, 136303384, 136303437-136303439, 136303442-136303449, 136303459-136303486, 136304491, 136304544-136304553, 136305492-136305518, 136305631-136305646, 136307556, 136307589-136307592, 136307655, 136307735, 136307820-136307828, 136307836, 136308499, 136308502, 136308573, 136308620-136308657, 136308668-136308678, 136309991, 136310006-136310007, 136310037-136310066, 136310084-136310086, 136310091-136310120, 136310142-136310173, 136310844-136310910, 136310930-136310940, 136313720-136313804, 136313823, 136313841, 136313844, 136314904-136314936, 136314975, 136315011-136315018, 136315081, 136319537-136319563, 136319611, 136319622-136319634, 136319645-136319647, 136319651-136319666, 136319675-136319698, 136320407-136320418, 136320427-136320429, 136320461-136320485, 136320491, 136320512-136320519, 136320524-136320537, 136320543, 136320547, 136320582-136320584, 136320587, 136320598, 136320611, 136320614-136320615, 136320638-136320644, 136320653-136320662, 136320668-136320671, 136320692, 136320697, 136320720-136320725, 136321199-136321211, 136321226, 136321260-136321284, 136321308-136321337, 136321679-136321693, 136321766-136321781, 136321794-136321829, 136323077, 136323080, 136323102, 136323110-136323187, 136323200-136323216, 136324167, 136324179-136324183, 136324189-136324200, 136324222-136324248, 136324260-136324264, 136324274, 136324279
831DBH90.710355987055025371854136501523, 136501551-136501565, 136501575-136501595, 136501633, 136501666-136501667, 136501738, 136501743, 136501796-136501802, 136504982-136504989, 136504999, 136505020-136505040, 136507397, 136508575, 136508591-136508595, 136508603, 136508650-136508686, 136508708-136508711, 136512990-136513004, 136513052-136513090, 136513118-136513123, 136516756-136516820, 136516859-136516873, 136517399-136517406, 136518062-136518067, 136518070-136518072, 136518097, 136518110-136518121, 136521645-136521650, 136521660-136521704, 136521740-136521771, 136522216-136522351, 136523485, 136523488-136523492, 136523501, 136523510, 136523518-136523529
832SARDH90.752629669931086822757136531857-136531858, 136531879-136531882, 136531886, 136531902-136531909, 136531923-136531929, 136531946-136531981, 136535706-136535780, 136535790-136535874, 136536657-136536768, 136550360-136550362, 136550395-136550404, 136550408, 136555510, 136555517, 136555527, 136555540-136555585, 136555588-136555601, 136555616, 136555641-136555642, 136555646, 136559380-136559394, 136559405-136559426, 136559437-136559493, 136568038-136568054, 136568060-136568061, 136568078-136568090, 136573412, 136573416, 136573433-136573443, 136573515-136573550, 136577773, 136577794-136577831, 136578173-136578177, 136578208-136578246, 136582478-136582483, 136582522-136582523, 136584109, 136599146, 136599262-136599264
833COL5A190.6180895414174421075517137534034-137534142, 137582758-137582925, 137591755-137591968, 137593017-137593179, 137619112-137619121, 137619124-137619127, 137619133, 137619164-137619205, 137619227-137619242, 137620585-137620602, 137620615, 137620621-137620637, 137620648, 137622147, 137622161, 137622220, 137622261, 137623342-137623376, 137623436-137623439, 137623454-137623509, 137630337-137630339, 137630628-137630652, 137642388-137642436, 137642460, 137642636-137642650, 137642687-137642728, 137644435-137644491, 137645696-137645749, 137646119-137646172, 137648620-137648633, 137648658-137648664, 137650098-137650110, 137650127, 137650135, 137650140, 137653771-137653824, 137655539-137655583, 137657527-137657545, 137657553-137657580, 137658846-137658860, 137659156-137659160, 137659165, 137659175, 137660284-137660309, 137664640-137664679, 137666705-137666758, 137671948-137671992, 137674513, 137674524-137674547, 137674562, 137674565-137674566, 137676839, 137676842, 137676851, 137676860-137676938, 137677852-137677876, 137677886, 137677890-137677892, 137681001-137681003, 137686931-137686935, 137686939-137686941, 137687108-137687112, 137688234, 137688243-137688248, 137693815-137693838, 137694775-137694780, 137694834-137694841, 137696840-137696865, 137696891-137696897, 137697031-137697045, 137698074-137698080, 137698124, 137702153-137702154, 137703338, 137703369-137703421, 137703435-137703445, 137704326-137704331, 137704339-137704348, 137704490, 137704493, 137704549-137704550, 137704553-137704558, 137705829-137705841, 137705867-137705882, 137706667-137706668, 137706700-137706703, 137706714, 137706720-137706728, 137706732-137706750, 137707821-137707823, 137708885-137708907, 137708919-137708925, 137709624-137709664, 137710558-137710564, 137710595, 137710601-137710603, 137710694-137710702, 137710893-137710899, 137711975-137711977, 137711980, 137713960-137713977, 137726953, 137726956-137726976, 137727017, 137727020, 137727038-137727050, 137734083
834LHX390.1323407775020710491209139089171-139089357, 139089364-139089370, 139089382-139089453, 139089456-139089467, 139089477-139089502, 139089506-139089507, 139089515-139089551, 139089566-139089589, 139090498-139090666, 139090754-139090905, 139091540-139091689, 139091723-139091726, 139092428-139092431, 139092458-139092526, 139092556-139092557, 139092562-139092599, 139094792-139094885
835INPP5E90.2697674418604714131935139324135-139324160, 139324235-139324253, 139324729-139324746, 139324802, 139324812-139324821, 139324845-139324855, 139325454-139325476, 139325548-139325569, 139326276-139326329, 139326341-139326350, 139326366-139326400, 139326416-139326437, 139326931-139326935, 139326970-139327038, 139327418-139327458, 139327478-139327518, 139327607-139327633, 139327662-139327731, 139328489-139328517, 139328543-139328584, 139329192-139329262, 139329289-139329315, 139333060-139333071, 139333109-139333358, 139333370-139333371, 139333375-139333380, 139333402-139333871
836NOTCH190.02360459050599974877668139390523-139390561, 139390569-139390657, 139390680-139392010, 139393351-139393384, 139393402-139393429, 139393437-139393448, 139393564-139393709, 139395004-139395299, 139396200-139396338, 139396357-139396365, 139396453-139396540, 139396727-139396731, 139396734, 139396740-139396940, 139397634-139397782, 139399125-139399556, 139399762-139400333, 139400979-139401091, 139401168-139401425, 139401757-139401889, 139402407-139402448, 139402454-139402476, 139402499-139402531, 139402539-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404186, 139404200-139404240, 139404249-139404290, 139404316-139404336, 139404342-139404413, 139405105-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408964-139409154, 139409742-139409852, 139409935-139410157, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
837AGPAT290.028673835125448813837139568204-139568379, 139569187-139569259, 139571037-139571086, 139571103-139571132, 139571413-139571588, 139571875-139571927, 139571929-139571932, 139571940-139572008, 139581628-139581809
838SLC34A390.03277777777777817411800140126155-140126176, 140126199, 140126202-140126220, 140126524-140126596, 140126604-140126613, 140127027-140127155, 140127236-140127379, 140127456-140127567, 140127661-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128921, 140128931-140128984, 140129059-140129183, 140130404-140130868
839EHMT190.7382602001539610203897140513481-140513501, 140605419-140605459, 140605466-140605482, 140611078-140611634, 140622803, 140622825-140622826, 140622831-140622834, 140622861-140622862, 140622885-140622894, 140622929, 140622968, 140622971-140622972, 140622981, 140671173, 140671236-140671282, 140672369, 140672484-140672489, 140706045-140706067, 140707593-140707619, 140708893-140708897, 140708931-140708951, 140728822-140728839, 140728853-140728876, 140728880, 140728897-140728924, 140728932-140728976, 140729229-140729237, 140729244-140729245, 140729271, 140729275, 140729284-140729295, 140729299-140729360, 140729369-140729371, 140729383-140729405
840SHOXX0.46188850967008473879591633-591909, 595367-595561, 605229
841CSF2RAX0.2398467432950299213051401597-1401640, 1401655-1401672, 1404671-1404813, 1407448-1407452, 1407459-1407460, 1407494-1407506, 1407657, 1407685-1407707, 1407747, 1407764-1407771, 1407777, 1409230-1409246, 1409254-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422898, 1424339-1424420
842ARSEX0.959887005649727117702852933-2852943, 2853016-2853020, 2867345-2867350, 2867418-2867424, 2867562-2867563, 2867690-2867697, 2871194-2871200, 2871269-2871277, 2873457, 2873501-2873515
843KAL1X0.981399902104753820438699949-8699955, 8699983-8700013
844GPR143X0.955294117647065712759733691-9733699, 9733713, 9733733-9733769, 9733798, 9733812, 9733870-9733877
845TRAPPC2X0.99290780141844342313734126-13734128
846PHKA2X0.9946062567421820370818911767-18911771, 18912389-18912393, 18912438-18912447
847ARXX0.9295441089402119168925025356-25025358, 25031410-25031424, 25031473-25031475, 25031507, 25031517-25031520, 25031546-25031574, 25031654-25031686, 25031715-25031720, 25031781-25031782, 25031803, 25031806, 25031809-25031828, 25031898
848RPGRX0.7239086441168955345938144818-38144829, 38144836, 38144856, 38144936-38144944, 38144947, 38145061-38145064, 38145067-38145081, 38145114-38145116, 38145151-38145168, 38145192-38145195, 38145253-38145864, 38145884-38145898, 38145903-38145905, 38145922-38145954, 38145981-38146045, 38146056, 38146073-38146120, 38146151-38146168, 38146200-38146206, 38146247-38146254, 38146266, 38146297-38146298, 38146361-38146367, 38146401-38146435, 38146446-38146476, 38147202
849BCORX0.999620349278662526839932053, 39933339
850NYXX0.71369294605809414144641332763-41332770, 41332787-41332824, 41332856-41332865, 41332882, 41332892-41332901, 41332943-41332946, 41332949-41332960, 41332986-41332991, 41333023-41333034, 41333043-41333047, 41333052, 41333109-41333115, 41333143-41333164, 41333184-41333207, 41333236-41333245, 41333276-41333374, 41333405-41333434, 41333454-41333468, 41333506-41333511, 41333514-41333515, 41333543-41333570, 41333611-41333633, 41333669-41333679, 41333940-41333941, 41333944-41333948, 41333953, 41333956-41333970, 41334013-41334019
851CACNA1FX0.99898887765426593449061662-49061667
852SMC1AX0.998919502971374370253439861, 53439865-53439867
853ARX0.9945711183496215276366765159-66765170, 66766357-66766359
854DLG3X0.997555012224946245469665294-69665299
855MED12X0.998316498316511653470360659-70360663, 70360680-70360682, 70361098-70361100
856TAF1X0.9941921858500533568270586190-70586220, 70586263-70586264
857ATRXX0.999064045995457747977041473-77041479
858CUL4BX0.99525893508388132742119673146-119673148, 119694353-119694362
859XIAPX0.99263721552878111494123019749-123019752, 123040945-123040951
860SOX3X0.94183445190157781341139586149-139586154, 139586426-139586440, 139586475-139586520, 139586850-139586859, 139586871
861NSDHLX0.998217468805721122152036191, 152036195
862FAM58AX0.9863945578231310735152858110-152858114, 152864475-152864479
863SLC6A8X0.881027253668762271908152954030-152954238, 152954249-152954256, 152959360-152959369
864ABCD1X0.945487042001791222238152990894-152990912, 152990919, 152990984-152990993, 152991108-152991117, 152991241, 152991244, 152991252-152991260, 152991434-152991451, 153001934-153001940, 153008731, 153008755, 153008984, 153009013-153009033, 153009122-153009143
865L1CAMX0.936406995230522403774153129451-153129453, 153129925-153129932, 153130344, 153130373-153130385, 153130594-153130619, 153130784-153130790, 153130936-153130948, 153131236-153131241, 153132126-153132132, 153132260, 153132264-153132266, 153133307-153133317, 153133896-153133898, 153134174, 153135020-153135034, 153135314-153135329, 153135370-153135389, 153135551, 153135562-153135566, 153135897, 153135900-153135901, 153136256-153136263, 153136379-153136405, 153136512-153136530, 153136591-153136606, 153136632-153136633, 153141287-153141291
866AVPR2X0.96594982078853381116153170992, 153171064-153171066, 153171115-153171128, 153171393-153171408, 153171421-153171422, 153171534-153171535
867MECP2X0.97595190380762361497153363062-153363065, 153363091-153363122
868OPN1LWX0.97990867579909221095153418456, 153418460, 153418468, 153421783, 153424291, 153424296, 153424303, 153424310-153424324
869OPN1MWX0.810958904109592071095153453337-153453343, 153453443-153453449, 153453474-153453496, 153455651-153455674, 153457286-153457309, 153458913, 153458951-153459032, 153459039-153459064, 153459077-153459083, 153461421, 153461448-153461451, 153461454
870OPN1MWX0.805479452054792131095153490455-153490461, 153490561-153490567, 153490592-153490614, 153492769-153492786, 153494404-153494427, 153496031, 153496057-153496117, 153496142-153496169, 153496176-153496201, 153498539, 153498544, 153498551, 153498558-153498572
871FLNAX0.636077542799628917944153577217, 153577246, 153577366-153577368, 153577379, 153577730-153577735, 153577773-153577779, 153577784, 153577813-153577824, 153577859-153577882, 153577910-153577933, 153578044, 153578047-153578049, 153578060-153578061, 153578210-153578211, 153578223-153578229, 153578418-153578428, 153578433-153578436, 153578442, 153578446, 153578449, 153578452, 153578496-153578535, 153578570-153578575, 153579296-153579299, 153579343, 153579346, 153580273-153580323, 153580549-153580586, 153580606-153580644, 153580718-153580721, 153580746-153580775, 153580811-153580813, 153580924-153580983, 153581025-153581043, 153581150-153581175, 153581216-153581236, 153581243-153581246, 153581257-153581258, 153581262-153581273, 153581380-153581429, 153581457-153581519, 153581567-153581572, 153581665-153581757, 153581783-153581810, 153581935-153581939, 153581976-153582043, 153582307-153582314, 153582401-153582411, 153582519-153582543, 153582984-153582987, 153583014-153583042, 153583074-153583079, 153583198-153583199, 153583243-153583264, 153583271-153583274, 153583281, 153583284-153583346, 153583369-153583425, 153583432, 153583436-153583438, 153585802-153585826, 153585842, 153585928-153585955, 153586567-153586647, 153586663-153586697, 153586840-153586857, 153586900-153586918, 153587386-153587406, 153587420-153587436, 153587470-153587489, 153587519-153587522, 153587614-153587640, 153587673-153587705, 153587736, 153587863-153587919, 153587946-153588011, 153588105-153588176, 153588196-153588197, 153588204, 153588210, 153588217, 153588232, 153588269-153588271, 153588358-153588390, 153588402-153588431, 153588469-153588510, 153588547-153588574, 153588582-153588589, 153588601-153588607, 153588611, 153588621-153588634, 153588647-153588649, 153588659-153588662, 153588704, 153588787-153588804, 153588853-153588874, 153588895-153588918, 153588939, 153588942, 153589676-153589693, 153589729-153589730, 153589733, 153589740-153589769, 153589794-153589807, 153589817, 153589821, 153589833, 153590038-153590091, 153590347-153590360, 153590376, 153590405-153590413, 153590438-153590516, 153590610-153590611, 153590639-153590648, 153590661, 153590674-153590681, 153590788-153590813, 153590839-153590873, 153590939, 153591031-153591048, 153591082-153591092, 153592405, 153592408-153592462, 153592631-153592633, 153592650-153592652, 153592657-153592661, 153592687-153592690, 153592967-153592971, 153593019-153593034, 153593081-153593084, 153593189-153593212, 153593254-153593268, 153593274, 153593295, 153593504-153593518, 153593524, 153593545-153593549, 153593620-153593627, 153593717-153593720, 153593784, 153593791-153593795, 153593830-153593854, 153594444-153594446, 153594449-153594452, 153594457-153594469, 153594512-153594533, 153594557-153594567, 153594694-153594742, 153594772-153594777, 153594815, 153594942-153594958, 153595100-153595115, 153595119-153595120, 153595124-153595125, 153595128-153595131, 153595140-153595174, 153595202-153595206, 153595824-153595825, 153595828, 153595873-153595875, 153596009-153596037, 153596065-153596072, 153596106, 153596210-153596226, 153596264-153596279, 153596340-153596354, 153596366-153596375, 153596430-153596443, 153599257-153599280, 153599304-153599360, 153599401-153599445, 153599460-153599497, 153599510, 153599520-153599606
872EMDX0.76601307189542179765153607882-153607884, 153607892-153607926, 153608050-153608055, 153608067-153608079, 153608113-153608144, 153608377-153608379, 153608594-153608613, 153608696-153608710, 153608718-153608727, 153609113-153609146, 153609365-153609371, 153609397
873TAZX0.70468948035488233789153640181-153640249, 153640254, 153640275-153640289, 153640423-153640512, 153640528-153640551, 153641833-153641834, 153641882-153641903, 153648428, 153648584-153648592
874GDI1X0.799851190476192691344153665601-153665645, 153666870-153666883, 153666940-153666941, 153666975-153666976, 153667116-153667139, 153667158, 153667164-153667165, 153667354-153667366, 153667381, 153667387-153667392, 153667468-153667482, 153668412-153668419, 153668821-153668826, 153669494-153669504, 153669530-153669542, 153670114-153670120, 153670458-153670501, 153670534-153670538, 153670729-153670763, 153671005-153671019
875G6PDX0.891330891330891781638153760253-153760270, 153760457, 153760488, 153760605-153760623, 153760653-153760677, 153760936-153760947, 153761318-153761320, 153761323-153761343, 153761882-153761883, 153762307-153762310, 153762598-153762626, 153762705-153762711, 153763383-153763404, 153775011-153775013, 153775022, 153775039-153775048
876IKBKGX0.98428961748634231464153780382-153780404
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
5DMD-N2912Dhomozygous0.031Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.059 (benign), Testable gene in GeneTests with associated GeneReview
5DMD-E2910Vhomozygous0.030Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests with associated GeneReview
5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
4C3-P314Lhomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
4C3-R102Ghomozygous0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2DPYD-M166Vhet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
2DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ABCA4-D2177Nhet unknown0.009Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
2PCSK9-Q278Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G126Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1.5CBS-I278Thet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
1.5CBS-RP58QDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CBS-S50Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5APOA5-S19Whet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5PIGR-A580Vhet unknown0.248Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1.5KRT5-G138Ehet unknown0.052Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-A191Thomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK298931-W38*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AK298931-T4ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1EFHC1-R159Whomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-R3842Lhomozygous0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-D4148Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-G949Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP19A1-R264Chet unknown0.079Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
1CHAT-R9Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHAT-R561Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP2B6-R22Chet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.639 (possibly damaging)
1CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
1CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HPS1-V4Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.827 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (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
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NSD1-V614Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NSD1-S726Phomozygous0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT10-H487ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1KRT10-H487ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhomozygous0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NACA2-V9Fhomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KRT74-E271Dhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
1KRT74-L178Qhomozygous0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRT74-N165Khomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1TMPRSS3-V53Ihet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SNORA33-L92Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1RGPD4-D761Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-V1428Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-S1577Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-N1582Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-W1646Rhet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CFHR1-T73AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFHR1-L290Shomozygous0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFHR1-A296Vhomozygous0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-N453Shomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLC4A5-V1106Ihomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PGAM4-R86Hhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RPGR-N345DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G323Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C20orf54-P267LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C20orf54-I74MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1FAM58A-G4ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
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
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SPTLC1-R151Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ABCA1-R1925Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-R219Khomozygous0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
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
0.625ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ROR2-P11Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.625ROR2-P11Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.625COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625COL1A1-G557Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
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
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A12-R473Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA0513-R100Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DL492456-L149Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LRRC50-E432Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-D584Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRP1B-V4264Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATMIN-S173Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
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-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FANCI-P55Lhet unknown0.051Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNB4-R349Chet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5IL4R-I75Vhet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-S503Phet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.743 (possibly damaging)
0.5IL4R-Q576Rhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-S752Ahet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.328 (possibly damaging)
0.5IL4R-S786Phet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TK2-P33Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CX3CL1-A62Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-P99Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-S136Chomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH2-L1061Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH2-S1043Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HKR1-S513Ihet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HKR1-V526Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HKR1-T628Ihet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-D1529Ehomozygous0.433Unknown
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
0.5EMR2-S616Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EMR2-L565Fhet unknown0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DENND1C-R489Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PNPLA6-DST242ESRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNPLA6-HF502LLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-K421Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LENG8-R279Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LILRA1-V5Lhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-R12Ghet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-Y291Hhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LILRA1-V387Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PTPRH-K823Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L226Phet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5NT5C1B-R187Qhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5NT5C1B-S176*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC8-K507Nhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5CCDC8-D381Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.759 (possibly damaging)
0.5RTTN-A2149Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RTTN-F1761Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RTTN-G242GGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RTTN-D212Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5RTTN-S126Ahomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEKT4-T90Rhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEKT4-R344Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-S349Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.886 (probably damaging)
0.5TEKT4-R351Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TEKT4-RD358GNhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ULK2-V370Mhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK2-P242Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5DLX4-N44Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5LOXHD1-A2036Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-D1094Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1090Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OXER1-M319Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OXER1-M40Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKRD12-K906Rhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5ANKRD12-L998Shet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLEKHH1-G677Rhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5PLEKHH1-P927Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLEKHH1-R1348*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MASTL-P620Ahet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
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
0.5SLC39A12-S36Ghet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-V304Ihomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-Q342Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-H919Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CAPN9-A102Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5CAPN9-S122Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5CAPN9-K322Qhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR13A1-Y269Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-N642Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPTY2D1-R447Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5MRGPRX1-F273Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhomozygous0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5PEX16-V254Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5MRPL23-G32Shet unknown0.043Unknown
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
0.5CC2D2B-Q401Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCC2-G921Shet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-M703Vhet unknown0.715Unknown
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
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RRP15-K149Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1324-H55Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1324-I86Vhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-T623Phet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-L1009Phomozygous0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-E1300*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5HSPG2-C894Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-R263Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PTGFRN-S277Thomozygous0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGFRN-R430Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5PTGFRN-V837Ihomozygous0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-L3132Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5PRELP-N348Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF687-G259Ehet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF687-G636Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5S100A3-V70Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MR1-R31Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5MR1-H39Rhomozygous0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.922 (probably damaging)
0.5F5-Q534Rhet unknown0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-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)
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-M942Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-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
0.5TTN-A32687Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E32681Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S26889Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-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
0.5FAM71D-T197Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-H2562Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1772Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S106Fhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACIN1-A892Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S647SRSRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S478Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MDP1-G153Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5UBE3A-A201Thet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP10A-R1298Shet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP10A-E834Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5ATP10A-S353Yhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.847 (possibly damaging)
0.5SLC12A1-R116Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A1-V958Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), 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-S32Nhomozygous0.794Unknown
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
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPAP1-R582Ghomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NR_028064-G139Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-G139Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYCBP2-N2593Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
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)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5SLCO1B1-N130Dhomozygous0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-L643Fhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), 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
0.5GSTP1-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)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRT6B-Y497Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKRD52-S1061Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STAT2-G825Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STAT2-M594Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CTDSP2-L214Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CTDSP2-R205Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CTDSP2-K201Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MARS-L71Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5AK097289-F90Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-R406Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.033 (benign), Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRIT3-R66Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LRIT3-S130Nhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5LRIT3-L144Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRIT3-M291Lhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.205 (possibly damaging)
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-T1038Ahet unknown0.816Unknown
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-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA18-I57Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5SPATA18-S227Phomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5CDS1-L99Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC10A6-S6Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ANK2-V2369Ahomozygous0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5THSD7A-D771Ehet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5THSD7A-N583Dhet unknown0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THSD7A-F238Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.845 (possibly damaging)
0.5THSD7A-P56Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAT1-D4218Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT1-K4059Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S3554Ahet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V3334Ahet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-N1662Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-T1585Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5FAT1-H1273Rhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-R1268Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAT1-R1064Ghet unknown0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhet unknown0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS12-R797Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRSS12-A606Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknown0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5HSPA4L-L211Shomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA4L-I601Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5N4BP2-D611Nhet unknown0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5N4BP2-E861Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5NPY-L7Phet unknown0.028Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.137 (benign)
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WBSCR28-G137Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZCWPW1-T153Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYTL1-R136Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL6A6-A370Thomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.86 (probably damaging)
0.5COL6A6-Y1655Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
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
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-N751Khet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5F13A1-E652Qhomozygous0.218Unknown
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
0.5RSPH9-V261Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPX5-L85Phet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A99Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A1353Vhomozygous0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhomozygous0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFB-D830Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFB-V837Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTNL2-P393Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5BTNL2-M380Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.225 (possibly damaging)
0.5BTNL2-P379Lhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BTNL2-S360Ghomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HLA-DQB1-T217Ihet unknown0.179Unknown
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-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-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-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: 2
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-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-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
0.5CCHCR1-R506Qhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-W78*het unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-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
0.5DPCR1-I324ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DPCR1-P380Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DPCR1-H383Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DPCR1-G384Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DPCR1-R1393Qhomozygous0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3094Ihet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5IQGAP2-D527Ehet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-N1184Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MTHFD1L-R563Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-VR1834Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD109-G828Ehet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CD109-T1241Mhomozygous0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB6-H636Qhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.393 (possibly damaging)
0.5PCDHB6-L684Fhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5PCDHB6-G776Dhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC25C-G297Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AIM1-T1165Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ELOVL4-E272Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-R525Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCG-L42Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCG-Q41Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD99-M166Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.194 (benign)
0.5CD99-N173Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG12-I393Vhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
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-P57Shet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
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)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NDUFV3-D415Nhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-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
0.5UMODL1-V173Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5UMODL1-M559Thomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UMODL1-T741Phomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-I767Thomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-V976IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMODL1-V978Ihet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-E1243Khet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMODL1-D1336Nhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5SETX-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
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5DDX58-R546Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DDX58-R7Chet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5MUSK-V829Lhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STK36-K295Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-R477Whet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-R1112Qhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRFIP1-Q275Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRRFIP1-R690Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRFIP1-H783Dhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TMC2-R123Khet unknown0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMC2-W217Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTH2R-R143Chet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5GDF5-S276Ahomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQCF1-R114Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTUS1-S267Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MTUS1-C148Rhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RP1-N985Yhomozygous0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-C2033Yhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5FANCD2-K871Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-L903Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SFTPC-T138Nhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-S186Nhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCA-S858Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.375FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-T3013Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EP300-S697Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R708Qhet 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
0.375MERTK-L9Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), 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
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DAXX-A392Thet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.25SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25FAM55D-A451Vhomozygous0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25FAM55D-Y398Hhomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM55D-L177Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DYNC2H1-K1413Rhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-S1785SNShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25SEMA4D-D781Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SEMA4D-S479Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SEMA4D-A327Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.632 (possibly damaging)
0.25TEX15-W2775*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TEX15-L1337Vhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TEX15-N1311Shet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TEX15-I1035Vhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TEX15-C104Rhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25FUT11-V8Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FUT11-C103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
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)
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EMID2-P308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EMID2-G390Shifthomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25EMID2-A408Thet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MLL3-L2653Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-N729Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MLL3-E728*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MLL3-M689Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25ZNF117-R428*homozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25ZNF117-D322Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF117-K112Nhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.25ZNF117-C83Yhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.214 (possibly damaging)
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25RANBP6-P632Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RANBP6-Y630*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25CYP11B2-I339Thet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAD1L1-LK348S*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25MAD1L1-V339Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAD1L1-I166Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NUP210-L1752Shet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NUP210-M1400Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NUP210-R786Lhet unknown0.656Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NUP210-A755Vhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NUP210-I608Vhet unknown0.656Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLIN4-T905Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLIN4-G902Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLIN4-S626Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
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
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOCOS-T170Ihomozygous0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-S184Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-H225Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25MOCOS-V358Mhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-A510Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MOCOS-H703Nhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.949 (probably damaging)
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25RNF43-L418Mhomozygous0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf68-E140DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf68-L186Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), 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
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25UBE2O-G1207Shet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UBE2O-A1150Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UBE2O-H1018Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RAB3GAP1-N598Shet unknown0.115Unknown
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)
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25PRODH-S222Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FIZ1-Q139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FIZ1-H125Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF530-M50Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF530-T64Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.25ZNF530-H110Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THADA-T1385Shet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THADA-T1187Ahet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25KIF1A-E628Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIF1A-Q623Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
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
0.25SYNE2-I574Thomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
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
0.25MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CELA1-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
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SH2B3-R149Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLTP-Q200*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GLTP-MYT197TYAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BX648746-R186Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25BX648746-I185Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BX648746-P43Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PMFBP1-K913Nhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PMFBP1-K760Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PMFBP1-T650Khet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PMFBP1-E193Khet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.868 (probably damaging)
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR1-R80Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PRDM7-F454Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRDM7-W437*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PRDM7-D90Ehomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCDC111-Q168Rhomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC111-T244Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IFT140-E1144Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IFT140-ED1065DHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MARVELD2-T33Ihet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MARVELD2-Y159Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0FLCN-H429Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0JPH3-L220Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0XPA-R258Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0RHAG-V270Ihet unknown0.038Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,724,696,237 bases (95.3% of callable positions, 88.5% of total positions)

Coding region coverage: 30,038,919 bases (90.3% of all genes, 91.5% 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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