hu7379BC - GET-Evidence variant report

Variant report for hu7379BC

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
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
2rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
3RNASEL-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
4ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
5H6PD-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
6SP110-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
7TP53-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
8rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
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
9FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
10CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
11CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
12NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
13SCN9A-K655RLowLikelyLikely benign

Unknown, Heterozygous
0.00124507Singh et al. 2009 studied a large family with febrile seizures, linking this region as causal. Then, analyzing a panel of 92 patients with childhood febrile seizures, and 109 Dravet cases (total of 201 patients), they saw 3 carriers of this variant (once in former, twice in latter), and not it in 562 Caucasian control chromosomes (281 individuals). Neither patient nor control findings have a statistically significant difference the variant frequency according to ExAC data (where 1 in 173 are carriers). This paper was proposing a high penetrance hypothesis, but if this were true we would see a dramatic enrichment of the variant in patients.1
14OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
15ZEB1-Q840PLowLikelyLikely benign

Unknown, Heterozygous
0.00390407Riazuddin, et al 2010 reported seeing this in a large pedigree with late-onset Fuchs corneal dystrophy, although the evidence isn't clear-cut. They also reported not finding the variant in 560 control chromosomes (equiv 230 individuals), and one carrier in a screen of 192 sporadic cases. Based on ExAC allele frequency data, not seeing this variant in 560 control chromosomes is unusual, but possible. However, the incidence of the variant in sporadic Caucasian cases matches ExAC allele frequency data, disproving the hypothesized effect; if this variant caused disease with any notable penetrance, it would be highly enriched with cases.1
16CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
17NEFL-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
18MYO7A-R302HLowLikelyLikely benign

Unknown, Heterozygous
0.00170487Weston, et al. 1996 reported seeing this on the same DNA strand with another variant in a couple cases of Usher Type I syndrome. That other variant was believed to cause disease in a recessive manner, while this variant was speculated to be coincidental observed. ExAC allele frequency data confirms that this variant is merely uncommon in Europeans (1 in 170 are carriers). If it were causal, it would be a well-established cause; the lack of such evidence in the literature confirms that the variant is not a "Mendelian" cause of Usher Type I syndrome.1
19MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
20FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
21RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
22LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
23PCCA-I475VLowUncertainUncertain benign

Unknown, Heterozygous
0.0377394Reported as a polymorphism, tentatively presumed benign.1
24NOTCH3-P496LLowUncertainUncertain benign

Unknown, Heterozygous
0.015625Presumed benign, seen in two healthy PGP participants.1
25MUSK-T100MLowUncertainUncertain benign

Unknown, Heterozygous
0.023413Probably benign.1
26COG1-T350MLowUncertainUncertain benign

Unknown, Heterozygous
0.00650678Uncertain, presumed benign. Seen in 2 out of 128 control chromosomes. Although predicted to be damaging by Polyphen 2, recessive disease caused by disruption of this gene is presumed extremely rare and the only report of a disease-causing mutation in this gene was a frameshift (much more severe).1
27GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
28PCSK9-G670ELowUncertainUncertain benign

Unknown, Heterozygous
0.888269This variant is likely benign. 1
29SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
30TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
31APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
32DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
33PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
34TYR-S192YLowUncertainUncertain benign

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

Exome coverage: 30730013 / 33212919 = 92.52%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2763115021179544426138955553-955753, 957581-957687, 957697-957722, 957737-957842, 970657-970704, 976046-976053, 976071-976098, 976105, 976108-976142, 976152-976260, 976553-976777, 976858-976911, 976915-976916, 976922-976924, 976937-976991, 976995, 977006-977014, 977040-977041, 977052-977082, 977336, 977345-977352, 977355-977369, 977375-977387, 977405-977410, 977415-977439, 977448-977501, 978619, 978622, 978642-978671, 978696, 978704-978720, 978730-978826, 978922-978926, 978932-978975, 979007-979112, 979228-979261, 979285-979325, 979336-979403, 979497-979546, 979558-979559, 979576-979611, 979625-979633, 979727, 979735-979765, 979779, 979792-979793, 979798-979801, 980554-980565, 980576-980631, 980648-980657, 980739-980751, 980765, 980775-980820, 980840-980850, 980879-980903, 981113-981140, 981147-981190, 981213, 981242, 981253-981256, 981354-981371, 981383-981439, 981453, 981457-981460, 981540-981566, 981579-981623, 981634-981645, 981784-981825, 981855, 981871, 981877, 981880-981882, 981892-982003, 982013-982082, 982200-982202, 982212-982234, 982240, 982243, 982251-982293, 982310-982332, 982708-982756, 982771, 982792-982822, 982833-982834, 982953-983031, 983056-983059, 983156-983181, 983192, 983205-983236, 983242-983275, 983392-983398, 983402-983451, 983459-983745, 984247-984284, 984293-984329, 984335-984439, 984625-984626, 984631-984677, 984697-984776, 984795, 984811-984831, 984946-984957, 984995-985014, 985054, 985067-985071, 985079-985118, 985131-985133, 985142-985175, 985301, 985304, 985313-985389, 985399-985417, 985613-985666, 985674-985709, 985840-985903, 985952, 985963-985965, 985971, 986123-986167, 986187-986217, 986655-986749, 986833-986837, 986840-986932, 986945-986965, 986983, 986988-986991, 986995-987025, 987108-987126, 987132, 987150-987171, 987188, 987195, 989133-989158, 989195-989241, 989251-989252, 989275-989293, 989300, 989305, 989311, 989316, 989828, 989831-989835, 989851-989873, 989890-989907, 989921-989931, 990212-990216, 990219-990239, 990242-990255, 990265-990302, 990305-990316, 990325-990333, 990345-990361
2GABRD10.3995584988962581613591950863-1950930, 1956381-1956384, 1956419-1956434, 1956477-1956484, 1956490-1956493, 1956773-1956783, 1956821-1956829, 1956957-1957022, 1957033, 1957037-1957038, 1957044-1957056, 1957059-1957070, 1957083, 1957094, 1957100-1957161, 1957171-1957175, 1959016-1959022, 1959035-1959048, 1959594-1959609, 1959619-1959643, 1959688-1959691, 1959701-1959707, 1959714, 1960550-1960641, 1960659, 1960662-1960705, 1960990-1961033, 1961043-1961078, 1961138-1961142, 1961162, 1961169-1961201, 1961422-1961440, 1961461-1961520, 1961541-1961620, 1961633-1961634, 1961651, 1961659-1961685, 1961700, 1961705, 1961710-1961721
3PEX1010.664627930682983299812337241, 2337260, 2337268-2337273, 2337923-2337977, 2338005, 2338040-2338042, 2338159-2338181, 2338186, 2338215-2338256, 2338268, 2338317-2338319, 2340004-2340018, 2340101, 2340141, 2340158-2340164, 2340171-2340174, 2340177, 2340184-2340216, 2340261-2340277, 2341869, 2343830-2343941
4NPHP410.8827376781125950242815923971-5923994, 5924442-5924459, 5924512-5924548, 5925187, 5925190, 5925193-5925194, 5925227-5925229, 5925254-5925261, 5925301, 5925305, 5925331, 5927126-5927127, 5934642-5934683, 5935054-5935056, 5935084, 5935118-5935140, 5935151-5935156, 5947376-5947404, 5947422-5947425, 5947445, 5947451-5947459, 5947469-5947512, 5950929-5950933, 5950941-5950944, 6021970-6021971, 6027359-6027375, 6029157-6029158, 6029194-6029206, 6029255-6029277, 6038330-6038473, 6046254-6046255, 6046298-6046302, 6046326-6046349
5ESPN10.47563352826511134525656485016-6485309, 6488294-6488341, 6488375-6488392, 6488425-6488433, 6488466-6488467, 6500367, 6500370-6500378, 6500389, 6500407-6500440, 6500449-6500488, 6500686-6500868, 6500994, 6501031-6501072, 6501097-6501103, 6505724-6505754, 6505776-6505820, 6505829-6505867, 6505886-6505925, 6505931-6505946, 6508701-6508702, 6508711-6508719, 6508723, 6508747-6508785, 6508821-6508836, 6508847-6508892, 6508899-6508928, 6509004-6509010, 6509021-6509122, 6509136, 6509142, 6511677-6511709, 6511804, 6511907-6511970, 6511981-6511982, 6511989-6511997, 6512021-6512048, 6512066, 6512069, 6512073-6512092, 6512106-6512154, 6517289, 6520087, 6520092-6520096, 6520177-6520184, 6520198-6520205
6PLEKHG510.7422389463781882231896527627-6527632, 6527885-6527906, 6527912, 6527956, 6527961, 6527965, 6527968, 6528064, 6528071-6528082, 6528089, 6528092-6528124, 6528190-6528193, 6528196, 6528232-6528268, 6528276-6528298, 6528305-6528335, 6528518, 6528522, 6528528, 6529406-6529426, 6529627, 6529700-6529736, 6530329-6530348, 6530577-6530600, 6530624, 6530628, 6530633-6530641, 6530645, 6530677, 6530795-6530798, 6530807-6530814, 6530818-6530883, 6530910-6530926, 6530936-6530944, 6531076, 6531081-6531109, 6531115-6531117, 6531140-6531160, 6531633-6531667, 6531690-6531697, 6531854-6531855, 6532609-6532612, 6532619-6532634, 6532637, 6532645, 6533082, 6533119, 6533138, 6533150, 6533175-6533176, 6533181-6533183, 6533342-6533343, 6533355-6533364, 6533393-6533418, 6533495-6533496, 6533505, 6534074, 6534105, 6534119, 6534133-6534135, 6534139-6534153, 6534169-6534216, 6534517-6534548, 6534579, 6534582, 6534612-6534647, 6535110, 6535140, 6535161-6535198, 6535532-6535540, 6535555-6535556, 6535568, 6536011-6536013, 6536085, 6556554-6556560, 6556566, 6556585-6556629, 6557380-6557383
7KIF1B10.999435347261433531310384913-10384915
8PEX1410.81393298059965211113410684397, 10684448-10684450, 10687363-10687366, 10689644, 10689649, 10689680-10689711, 10689716-10689723, 10689729-10689741, 10689750-10689751, 10689770-10689824, 10689860, 10689882-10689921, 10689942, 10689960, 10689969, 10689972, 10689999-10690044
9TARDBP10.91967871485944100124511082193, 11082258-11082287, 11082322-11082362, 11082396-11082402, 11082438, 11082582-11082597, 11082660-11082663
10MASP210.64386220281417734206111087335, 11090852, 11094889-11094891, 11094899-11094914, 11094934, 11097750-11097778, 11097802-11097816, 11097845-11097848, 11102933-11102993, 11103025-11103079, 11103396-11103563, 11103569-11103592, 11105465-11105517, 11105524-11105596, 11106613-11106614, 11106625-11106626, 11106631, 11106638-11106640, 11106667-11106687, 11106699, 11106736-11106750, 11106774-11106790, 11106948-11107054, 11107062-11107103, 11107138-11107139, 11107144-11107150, 11107164, 11107170-11107171, 11107175-11107176, 11107260-11107264
11MTHFR10.9913749365804217197111854102-11854110, 11854537, 11861293-11861299
12PLOD110.9656593406593475218411994845-11994846, 11994867-11994882, 11994885, 12010513-12010527, 12012747, 12023673-12023682, 12024311-12024312, 12024703, 12024759, 12024832-12024834, 12026323-12026329, 12030763-12030765, 12030835-12030846, 12030863
13MFN210.998680738786283227412066740, 12066745, 12067277
14CLCNKA10.90600775193798194206416353221-16353244, 16353821, 16353875-16353876, 16353879, 16354324, 16355624-16355634, 16355662-16355665, 16355673, 16355677, 16356261, 16356528, 16356956-16356958, 16356964-16357022, 16357034-16357071, 16357138-16357141, 16358704-16358710, 16358725-16358757, 16359722, 16360119
15CLCNKB10.8812984496124245206416372095-16372102, 16372105, 16373124, 16373128, 16374512, 16376181-16376185, 16376191, 16377416, 16377976-16377980, 16378205-16378215, 16378218, 16378294-16378315, 16378693-16378702, 16378733-16378805, 16378815, 16378832-16378848, 16378852-16378853, 16378897, 16380201-16380217, 16380243-16380244, 16380252, 16380264-16380267, 16381957-16381964, 16381971-16381973, 16382170-16382180, 16382190-16382208, 16382211, 16382243-16382253, 16383364-16383368, 16383377
16ATP13A210.87157775896133455354317312763-17312766, 17312769-17312770, 17312783, 17312794-17312833, 17312843, 17312996-17313016, 17313048-17313058, 17313310-17313312, 17313320-17313324, 17313383-17313401, 17313564-17313639, 17313678, 17313691, 17313700, 17314685, 17314697, 17314719-17314725, 17314879-17314883, 17314931-17314938, 17314941-17314942, 17314945-17314950, 17314962-17314969, 17318343, 17318594-17318607, 17318612-17318616, 17319006, 17319011, 17320152, 17320264-17320310, 17322560-17322616, 17322631-17322640, 17322782-17322783, 17322914, 17323521-17323542, 17323554-17323556, 17323647-17323652, 17326506-17326514, 17326518, 17326523-17326534, 17326542, 17326559-17326570, 17326632-17326637, 17326775-17326786, 17328539, 17328815, 17331218, 17338230-17338233
17SDHB10.9988137603796184317371325
18ALDH4A110.90307328605201164169219201910-19201936, 19201956, 19202935, 19204018-19204021, 19204024, 19204030-19204046, 19208207-19208211, 19208329-19208337, 19208362-19208363, 19209638, 19209671-19209692, 19209773-19209789, 19209819-19209820, 19209823-19209827, 19209830-19209831, 19209840, 19209909, 19212060, 19212068-19212070, 19212074-19212075, 19212982-19212990, 19215881, 19215924-19215925, 19216507, 19228980, 19228992-19229017
19PINK110.9690721649484554174620960071, 20960077-20960085, 20960097-20960100, 20960113-20960115, 20960238, 20960246-20960259, 20960373-20960394
20ALPL10.9714285714285745157521887191, 21889603-21889605, 21889663-21889664, 21889750-21889777, 21890558, 21890574, 21890622, 21900213-21900215, 21903903-21903907
21HSPG210.8762902246508816301317622149844-22149903, 22149917-22149941, 22149963, 22149977, 22150126-22150135, 22150160-22150171, 22150179-22150212, 22150626-22150641, 22150684, 22150691, 22150799-22150800, 22150811, 22150823-22150831, 22150850, 22151030-22151053, 22151063-22151108, 22151207, 22154523-22154538, 22154544-22154583, 22154624-22154645, 22154775-22154801, 22154831-22154863, 22154909-22154919, 22155347-22155365, 22155509-22155517, 22155524, 22155548, 22155556, 22155570, 22155950-22155953, 22155968-22155969, 22155995-22156016, 22156077-22156083, 22156093-22156097, 22156556-22156584, 22157548-22157554, 22157560, 22158199, 22159096-22159097, 22160016-22160017, 22163391, 22163422, 22165413-22165428, 22165448-22165456, 22165462-22165463, 22165927-22165928, 22167597-22167604, 22167616-22167662, 22167685, 22167762-22167778, 22168046-22168077, 22168118, 22168124-22168143, 22168541-22168578, 22168608, 22168805, 22168809, 22169272-22169293, 22169376, 22169379, 22169918, 22169921-22169922, 22170769-22170787, 22172601, 22172631-22172632, 22172637, 22172673-22172676, 22173060, 22173889-22173892, 22173924-22173965, 22174278, 22174512-22174518, 22174542-22174544, 22174570, 22175189-22175232, 22175263, 22175278, 22175398, 22175412, 22175464-22175477, 22176869, 22176877, 22176933-22176976, 22178092, 22178095, 22178099-22178102, 22178329, 22178593, 22180805-22180817, 22181109-22181125, 22181161-22181163, 22181202-22181210, 22181413-22181429, 22181452-22181456, 22181463, 22181468, 22181866, 22182016-22182059, 22182158, 22186059-22186062, 22186093-22186097, 22186100-22186103, 22186136-22186155, 22186328-22186344, 22186404-22186432, 22186454-22186467, 22186490-22186495, 22186675-22186717, 22186724-22186728, 22188250, 22188259-22188260, 22188555, 22188588, 22190596, 22190605, 22190660-22190669, 22191427-22191450, 22191454, 22191479, 22191531, 22191811-22191823, 22192213-22192215, 22198686, 22198693, 22198706-22198709, 22198714, 22199127-22199168, 22199207-22199208, 22199229, 22199240, 22199245, 22199492-22199533, 22199565, 22199899, 22200479, 22200919-22200959, 22201221-22201222, 22202521-22202523, 22202836-22202839, 22206642-22206643, 22206649, 22206970-22206973, 22206988-22206990, 22207018-22207050, 22207249-22207252, 22207975-22207976, 22207994-22207995, 22211154-22211167, 22211339-22211341, 22211371-22211402, 22211506-22211510, 22211517-22211519, 22211550-22211559, 22213737-22213741, 22214032, 22214109, 22214458-22214470, 22217130-22217155, 22263648-22263710
22WNT410.89299242424242113105622456122-22456127, 22456132, 22456154-22456159, 22456184-22456206, 22469339-22469415
23HMGCL10.965235173824133497824134718-24134725, 24134732, 24134752-24134754, 24134778-24134786, 24137229-24137241
24FUCA110.85795860099929199140124186381, 24194415-24194457, 24194468-24194493, 24194512, 24194609-24194613, 24194616-24194621, 24194628, 24194635, 24194641-24194662, 24194671-24194756, 24194770-24194776
25LDLRAP110.925566343042076992725870190-25870250, 25870253, 25893422-25893428
26SEPN110.82374100719424294166826126722-26126904, 26131696-26131706, 26131736, 26135071, 26135074-26135075, 26135079-26135082, 26135096-26135098, 26135103-26135104, 26135111, 26135604, 26136208-26136209, 26136226-26136230, 26136258, 26136282-26136301, 26138019, 26138299-26138348, 26139195-26139199, 26140375
27HPCA10.98969072164948658233359429-33359434
28KCNQ410.84626436781609321208841249766-41249860, 41249866-41249897, 41249908-41249961, 41249973, 41249983-41250016, 41250027-41250034, 41250037-41250050, 41250060-41250079, 41284240-41284241, 41284264-41284308, 41284320, 41284330-41284332, 41284341-41284345, 41300723-41300729
29LEPRE110.998190863862514221143232186, 43232344-43232345, 43232408
30SLC2A110.994590939824218147943424305-43424312
31UROD10.999094202898551110445479463
32POMGNT110.998991427130612198346662426-46662427
33ORC110.99845320959014258652838936, 52839039, 52839042, 52840558
34CPT210.998988366211432197753679092-53679093
35DHCR2410.9858156028368822155155340777, 55352565, 55352568-55352570, 55352597-55352612, 55352792
36PCSK910.93410293410293137207955505517-55505520, 55521677-55521679, 55521694-55521695, 55521700-55521704, 55521712-55521759, 55521822-55521853, 55521856, 55523140-55523154, 55523775-55523783, 55524227-55524233, 55524272-55524275, 55527178-55527184
37GSTM110.4703196347032348657110230496-110230531, 110230792-110230804, 110230839, 110230844, 110230851-110230855, 110230858, 110230867, 110231295-110231306, 110231321, 110231688-110231698, 110231710-110231751, 110231863-110231871, 110231891-110231947, 110232908-110232910, 110232924-110232948, 110232960-110232988, 110233076-110233174, 110235888, 110235917
38HSD3B210.92850759606792801119119964932-119964978, 119965130-119965136, 119965218-119965243
39NOTCH210.984088457389431187416120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611960, 120611964, 120611999-120612009
40FLG10.921385196126795812186152276267, 152276298, 152276355-152276389, 152276635, 152276658-152276702, 152276717-152276718, 152276726, 152277125-152277171, 152277367, 152277554, 152277898, 152278046-152278052, 152278218, 152278406-152278437, 152278870, 152279187-152279193, 152279348-152279386, 152279403-152279409, 152279563-152279580, 152279633-152279634, 152279642, 152279698-152279699, 152279820-152279851, 152279957-152279977, 152280083-152280091, 152280337-152280347, 152280461-152280467, 152280544-152280551, 152280609-152280636, 152280933-152280934, 152281145-152281153, 152281308-152281356, 152281446, 152281511, 152281589, 152281605-152281649, 152281760, 152281953-152281972, 152282091-152282105, 152282119-152282148, 152282168-152282175, 152282231, 152282240, 152282247, 152282252-152282270, 152282278-152282303, 152282408-152282409, 152282500, 152282629-152282630, 152283103, 152283170-152283181, 152283207, 152283228, 152283232, 152283236, 152283244, 152283277-152283279, 152283483-152283505, 152283511-152283513, 152283519, 152283524-152283526, 152283529-152283536, 152283725, 152283971, 152283975, 152284010, 152284075-152284090, 152284125, 152284143, 152284170-152284172, 152284191, 152284206-152284209, 152284225-152284255, 152284305, 152284339, 152284344, 152284362-152284363, 152284368, 152284500-152284527, 152284705-152284706, 152284834-152284857, 152284996-152285041, 152285077-152285080, 152285211-152285247, 152285276-152285280, 152285464-152285496, 152285577, 152285585, 152285588, 152285826-152285861, 152285990, 152286000-152286002, 152286180, 152286216, 152286441, 152286595, 152286971, 152287220
41CHRNB210.99138502319417131509154544344-154544347, 154544387-154544395
42GBA10.9991645781119511197155184367
43GBA10.9950341402855481611155205005-155205011, 155207146
44PKLR10.98376811594203281725155269989-155270010, 155270036-155270041
45LMNA10.991181657848325567156106007-156106011
46LMNA10.98796992481203241995156106007-156106011, 156108281-156108282, 156108287, 156108326, 156108329-156108330, 156108367-156108379
47SEMA4A10.9995625546806612286156131137
48NTRK110.96946884148892732391156830727-156830733, 156830747-156830764, 156830777-156830800, 156843443-156843466
49MPZ10.989703989703998777161279672-161279675, 161279681-161279684
50F510.99550561797753306675169510380, 169510499-169510527
51DARS210.98245614035088341938173794470-173794480, 173795920-173795921, 173802514, 173802557-173802567, 173807384-173807390, 173810034, 173814383
52SERPINC110.9985663082437321395173878914-173878915
53NPHS210.99131944444444101152179544803-179544808, 179544819, 179544862-179544864
54RNASEL10.9991015274034122226182545500, 182555108
55NCF210.9993674889310611581183542427
56CFH10.9883658008658433696196716353-196716395
57CFHR110.997985901309162993196801042, 196801078
58ASPM10.99990415947863110434197115303
59PKP110.97982576799633442181201282629-201282665, 201294214-201294220
60PSEN210.97698589458055311347227071480, 227071591-227071620
61ADCK310.854938271604942821944227149094, 227149098-227149100, 227152781-227152785, 227152818-227152838, 227152878, 227152894, 227152956-227152979, 227153017-227153033, 227153085, 227153088-227153089, 227153372-227153396, 227153424-227153431, 227153437, 227169751-227169752, 227169759-227169789, 227169821-227169840, 227169843, 227170450-227170464, 227170658-227170661, 227170673, 227170678, 227171269-227171272, 227171462-227171479, 227171486-227171508, 227171511, 227171795-227171805, 227171830-227171837, 227171877-227171893, 227171910-227171913, 227171925-227171928, 227172955-227172960, 227174232
62GJC210.1553030303030311151320228345460-228345477, 228345485-228345487, 228345504-228345506, 228345509, 228345530, 228345533, 228345545-228345605, 228345613-228345639, 228345644-228345734, 228345744-228345947, 228345961-228345963, 228345967, 228345981-228345983, 228345986-228346156, 228346162, 228346168, 228346190-228346196, 228346199-228346215, 228346223-228346646, 228346662-228346693, 228346706, 228346711-228346733, 228346759-228346779
63ACTA110.851851851851851681134229567468, 229567641-229567645, 229567789-229567807, 229567831-229567840, 229567863-229567881, 229567904-229567932, 229568080-229568093, 229568119-229568129, 229568150-229568167, 229568170, 229568318-229568351, 229568377-229568378, 229568385, 229568407, 229568415-229568417
64LYST10.99947396107312611406235827316-235827319, 235896815, 235896819
65ACTN210.9970204841713282685236907950-236907955, 236908000-236908001
66MTR10.9992101105845233798237060942-237060944
67RYR210.99979871175523314904237821244-237821246
68NET1100.99888330541597217915454711-5454712
69IL2RA100.99877899877918196063561
70GATA3100.99475655430712713358100741-8100747
71OPTN100.999423298731261173413151255
72PHYH100.9901671583087510101713341971-13341980
73PTF1A100.7082066869300928898723481460-23481463, 23481527-23481548, 23481578-23481584, 23481626, 23481635-23481689, 23481699, 23481703-23481705, 23481737-23481762, 23481767-23481769, 23481797-23481803, 23481833-23481913, 23481924-23481949, 23482023-23482031, 23482102-23482121, 23482144, 23482177-23482198
74PDSS1100.999198717948721124826986662
75MASTL100.9958285930982211263727459112-27459122
76RET100.93632286995516213334543572707-43572779, 43597853-43597854, 43600519, 43600578-43600638, 43601897-43601898, 43604647-43604653, 43606853-43606858, 43606910, 43607589, 43607592, 43609932-43609936, 43610136-43610148, 43614979-43615006, 43615178-43615189
77ERCC6100.999776885319051448250740795
78CHAT100.9786381842456648224750822288-50822289, 50822341-50822370, 50822404, 50822407-50822415, 50822493-50822498
79EGR2100.972746331236939143164573018-64573030, 64573484-64573506, 64573534-64573536
80KIAA1279100.993569131832812186670760254-70760265
81NODAL100.9559386973180146104472201233, 72201236, 72201345-72201388
82PRF1100.999400479616311166872358369
83SLC29A3100.999299719887961142873082581
84CDH23100.987171837708831291005673439210-73439230, 73464668-73464683, 73464746, 73464774-73464782, 73464795, 73464866, 73464870-73464887, 73468922-73468925, 73490309, 73501656, 73550058-73550059, 73550160-73550170, 73551058-73551069, 73569817, 73571143-73571163, 73571506, 73571714, 73571764, 73571767, 73573008-73573012
85VCL100.9926578560939825340575758096-75758120
86LDB3100.91620879120879183218488428473-88428476, 88441319, 88441434-88441436, 88466288, 88466346-88466349, 88466372-88466387, 88466439, 88469662-88469677, 88469768-88469784, 88476206-88476250, 88476278-88476285, 88476326-88476346, 88476390-88476435
87GLUD1100.92426952892069127167788854086, 88854338-88854342, 88854346-88854400, 88854405-88854419, 88854428-88854430, 88854442-88854443, 88854446-88854491
88PLCE1100.9981183962946913690996006360-96006364, 96076367-96076374
89HPS1100.96058879392213832106100177350, 100177365-100177381, 100177394-100177395, 100177410-100177419, 100177483, 100177942-100177952, 100189556-100189596
90COX15100.9967558799675641233101491755-101491758
91CPN1100.98983297022513141377101802263-101802276
92C10orf2100.998540145985432055102748725-102748727
93FBXW4100.99192897497982101239103454285-103454287, 103454315-103454318, 103454358-103454360
94HPS6100.906786941580762172328103825307, 103825342, 103825350, 103825377, 103825381, 103825388-103825418, 103825430-103825458, 103825503, 103825597-103825629, 103825640-103825662, 103825674-103825699, 103825741-103825746, 103826052, 103826058-103826060, 103826067, 103826222-103826231, 103826513-103826514, 103826588, 103826989-103827025, 103827031-103827037, 103827437
95SUFU100.896907216494851501455104263910-104263928, 104263970-104263984, 104264000-104264043, 104264069-104264091, 104352365-104352366, 104352413-104352424, 104352450, 104353458-104353460, 104353463, 104356898, 104357003-104357021, 104359190-104359193, 104359296-104359301
96CYP17A1100.903732809430261471527104590459, 104590520-104590525, 104590596-104590603, 104590633-104590682, 104592342-104592348, 104592379-104592424, 104594763, 104595011, 104595014-104595034, 104595094, 104596988-104596992
97COL17A1100.99688473520249144494105816896-105816899, 105816911-105816918, 105816921-105816922
98EMX2100.9104084321475668759119302788-119302798, 119302937-119302941, 119302948-119302951, 119302997-119303002, 119303081-119303122
99BAG3100.98668981481481231728121411268-121411290
100HTRA1100.814968814968822671443124221173, 124221176, 124221188-124221220, 124221227-124221281, 124221302-124221392, 124221414-124221418, 124221423, 124221431-124221432, 124221437, 124221442-124221453, 124221475-124221478, 124221483-124221493, 124221496-124221497, 124221508-124221513, 124221517-124221533, 124221562-124221586
101UROS100.991228070175447798127477437-127477442, 127477574
102HRAS110.76315789473684135570532646-532648, 532657-532660, 532665-532670, 532700-532726, 532732-532737, 532744-532755, 533464, 533474-533478, 533488-533491, 533802-533806, 533836-533837, 533841-533866, 533938-533940, 534221, 534225, 534229-534230, 534242, 534297-534322
103TALDO1110.811637080867851911014747482-747578, 755930-755932, 755937-755946, 763344-763352, 763384, 763403-763405, 763409-763454, 763509-763512, 763927-763944
104SLC25A22110.23765432098765741972791928-791998, 792005-792068, 792142-792149, 792173-792181, 792188-792217, 792304-792405, 792441-792458, 792566-792727, 792870-792988, 793529-793534, 793550-793579, 793604-793614, 794507-794513, 794776-794811, 794818-794824, 794861-794901, 794987-795006
105PNPLA2110.486468646864697781515819719-819905, 821629-821633, 821636-821649, 821676-821680, 821707-821722, 821739-821742, 821746, 821749, 821795, 821823, 821859, 821995-822023, 822483-822502, 822596-822606, 823545-823549, 823558-823569, 823576-823584, 823694, 823698-823699, 823739, 823769-823776, 823779-823781, 823791-823795, 823806, 823829-823835, 823848-823849, 823998-824059, 824101, 824110-824130, 824314-824341, 824359-824431, 824523, 824529-824573, 824581-824610, 824615, 824635-824638, 824654-824688, 824703-824812, 824841-824855
106CTSD110.3397901533494881812391774733-1774743, 1774765-1774806, 1774809, 1774845-1774900, 1775033-1775094, 1775101-1775123, 1775224-1775278, 1775283, 1775324-1775368, 1776136, 1778568-1778619, 1778639-1778647, 1778651-1778682, 1778691-1778709, 1778748-1778783, 1780199-1780317, 1780751-1780783, 1780792-1780840, 1780851-1780869, 1782539-1782596, 1782606-1782610, 1782632-1782645, 1782653-1782654, 1782660-1782661, 1782681-1782682, 1782690-1782691, 1785022-1785089
107TNNI2110.471766848816032905491861454-1861464, 1861633-1861674, 1861758-1861777, 1861791-1861814, 1861829-1861886, 1862049-1862103, 1862261-1862303, 1862309-1862338, 1862361, 1862365-1862368, 1862373, 1862700
108TNNT3110.151866151866156597771944785-1944795, 1946329-1946346, 1947925-1947939, 1950354-1950373, 1951040-1951058, 1953716-1953718, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955885, 1956065-1956136, 1956149, 1958193-1958206, 1958222-1958233, 1959668-1959722
109H19110.8730158730158713610712017748-2017772, 2017822-2017837, 2017905-2017949, 2017990-2017999, 2018116, 2018236-2018240, 2018276-2018300, 2018359-2018360, 2018432-2018438
110IGF2110.188466947960625777112154217-2154259, 2154269-2154278, 2154285-2154286, 2154297, 2154306-2154419, 2154425-2154428, 2154443-2154453, 2154747-2154846, 2154859-2154862, 2154882-2154895, 2156597-2156621, 2156637-2156660, 2156668-2156710, 2156739-2156759, 2161365-2161525
111TH110.19746031746032126415752185463-2185510, 2185535, 2185540-2185563, 2185566, 2185621-2185622, 2186467-2186557, 2186559-2186595, 2186898-2186967, 2187232-2187238, 2187245, 2187254-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188677-2188715, 2189096-2189127, 2189144-2189148, 2189321-2189327, 2189359-2189397, 2189726-2189729, 2189737-2189771, 2189793-2189799, 2189801-2189802, 2189804-2189805, 2189813-2189859, 2189869, 2189888-2189895, 2190880-2191101, 2191920-2192000, 2192934-2192958, 2192975-2193013
112KCNQ1110.7902511078286642620312466329-2466714, 2593277-2593278, 2593318-2593328, 2790106-2790115, 2799251-2799267
113CDKN1C110.0462670872765519079512905234-2905260, 2905271-2905292, 2905309-2905310, 2905313-2905364, 2905900-2906596, 2906606-2906686, 2906694-2906719
114HBD110.9842342342342374445255652-5255658
115SMPD1110.994198312236291118966411931-6411941
116SBF2110.999819819819821555010315616
117ABCC8110.9873577749683960474617452496, 17498265-17498323
118USH1C110.9703703703703780270017517135-17517151, 17522622-17522640, 17531201-17531225, 17531318-17531329, 17565819-17565825
119WT1110.85392535392535227155432449508-32449510, 32456268, 32456308-32456342, 32456378-32456393, 32456484-32456520, 32456583-32456596, 32456635-32456664, 32456670-32456709, 32456731-32456739, 32456776-32456782, 32456812-32456846
120EXT2110.999536393138621215744228386
121ALX4110.9765372168284829123644286463, 44286466, 44286469, 44286599-44286606, 44286610, 44286676-44286683, 44331275-44331283
122SLC35C1110.999053030303031105645827446
123PEX16110.9538904899135448104145931676-45931691, 45935463-45935469, 45935980-45935981, 45937072-45937079, 45937373-45937380, 45939281-45939287
124F2110.88443017656501216186946741284-46741320, 46741351-46741398, 46742362-46742366, 46745003, 46745012-46745021, 46745045, 46747419, 46747501-46747509, 46747592-46747638, 46747673, 46747700-46747721, 46748106-46748130, 46748261, 46748337, 46749585, 46749589, 46749602, 46749620-46749622, 46750216
125DDB2110.999221183800621128447236787
126MYBPC3110.91058823529412342382547353697-47353699, 47355222, 47356611-47356613, 47356738, 47362719-47362725, 47365127-47365129, 47367889-47367891, 47367894-47367913, 47368193-47368195, 47368981-47369019, 47369450-47369456, 47369980-47370009, 47370021-47370034, 47370040-47370041, 47370078-47370092, 47371325-47371341, 47371362, 47371365, 47371410-47371419, 47371438-47371473, 47371573, 47371590-47371610, 47371614-47371628, 47371648-47371655, 47372085, 47372105-47372166, 47372804, 47372829, 47372836-47372838, 47372843-47372847, 47372908, 47372947, 47372972-47372974, 47372984, 47372989-47372990
127SLC39A13110.9417562724014365111647431822, 47433496, 47433503, 47433507, 47433918, 47435050, 47435976-47435978, 47435982, 47436418-47436460, 47436610, 47436862-47436871, 47436876
128RAPSN110.90799031476998114123947459526-47459536, 47459549, 47459552, 47459568, 47460288-47460306, 47460351, 47463241-47463258, 47463409-47463411, 47463464, 47464261-47464262, 47469439, 47469556, 47469625, 47469668-47469674, 47470346-47470391
129NDUFS3110.99245283018868679547600850-47600855
130SERPING1110.998003992015973150357365774-57365776
131TMEM216110.99242424242424226461165327, 61165330
132ROM1110.991477272727279105662380783, 62380827, 62381061-62381062, 62381297-62381301
133BSCL2110.995680345572356138962473079-62473084
134SLC22A12110.48796630565584851166264359032-64359074, 64359105-64359221, 64359234-64359247, 64359269-64359286, 64359299-64359300, 64359317-64359319, 64359328-64359364, 64359375-64359426, 64360264-64360346, 64360877-64360897, 64360922-64360968, 64361009-64361031, 64361107-64361129, 64361140, 64361162-64361236, 64361274, 64365988-64366001, 64366298-64366301, 64366305, 64366308-64366309, 64366351-64366356, 64367148-64367173, 64367184-64367189, 64367193-64367209, 64367218, 64367222-64367250, 64367257-64367297, 64367302, 64367311-64367340, 64367360, 64367839-64367845, 64367861, 64367898-64367935, 64367945-64367947, 64368207-64368225, 64368230-64368242, 64368270-64368298, 64368334, 64368358
135PYGM110.93357058125741168252964518826, 64521021-64521043, 64521083-64521084, 64521352-64521365, 64521385-64521397, 64521412-64521445, 64521760-64521775, 64525365-64525368, 64525796, 64525943-64525965, 64526083, 64526176, 64527128-64527139, 64527146-64527167, 64527228
136MEN1110.9610389610389672184864572068, 64572090-64572092, 64572544-64572558, 64572564, 64572600-64572602, 64572614-64572616, 64573127-64573132, 64573162-64573166, 64573189, 64577242-64577256, 64577258, 64577496, 64577539-64577545, 64577551-64577554, 64577576-64577581
137EFEMP2110.9594594594594654133265634480, 65635997-65635999, 65636053, 65636073-65636085, 65637411-65637421, 65637606-65637620, 65638654, 65638715-65638716, 65638719, 65638729-65638733, 65639795
138CST6110.957777777777781945065780332-65780333, 65780406-65780422
139BBS1110.99831649831653178266288834-66288836
140SPTBN2110.94200473999721416717366453442-66453444, 66455041, 66457618-66457619, 66460712-66460715, 66468003, 66468083, 66468110-66468119, 66468197, 66468203-66468220, 66468289-66468333, 66468398-66468402, 66468514-66468523, 66468583-66468586, 66468716, 66468730-66468735, 66468747-66468753, 66469084-66469091, 66469149, 66472168, 66472172-66472173, 66472184, 66472244-66472278, 66472353-66472360, 66472422-66472426, 66472496-66472525, 66472619-66472651, 66472678-66472680, 66472711, 66472749-66472766, 66472893, 66473302-66473308, 66474998-66475009, 66475114-66475118, 66475129, 66475136-66475157, 66475186, 66475206-66475231, 66475245-66475272, 66475617, 66475629-66475636, 66475641-66475642, 66475675, 66475754-66475758, 66476401-66476403, 66481120, 66481787-66481791, 66481797, 66482835-66482836, 66482840-66482841, 66483305-66483307, 66483323, 66483336, 66483339-66483350
141PC110.91914051456036286353766617529, 66617691-66617716, 66617760, 66617767, 66617863-66617865, 66618273-66618278, 66618376, 66618381, 66618539-66618551, 66618666-66618673, 66619945, 66620004-66620005, 66620010, 66620014-66620022, 66620039, 66620044, 66620054, 66620059-66620060, 66620065-66620073, 66620094, 66620717, 66620771, 66631254-66631261, 66631290, 66631324, 66631330, 66631333, 66631337, 66631354-66631379, 66633659-66633660, 66633663, 66633670-66633674, 66633677-66633680, 66633729, 66636325-66636330, 66637799-66637815, 66638300-66638317, 66638528-66638530, 66638641, 66638786-66638815, 66638896-66638911, 66638942, 66639185-66639196, 66639207-66639245
142CABP4110.5350241545893738582867222900-67222929, 67222937-67222971, 67222984-67222996, 67223042-67223052, 67223075-67223112, 67223127, 67223131, 67223139-67223191, 67223202-67223250, 67223659, 67223680, 67223686-67223689, 67223820, 67223838, 67223856-67223893, 67225073, 67225078, 67225140-67225143, 67225842-67225878, 67225904-67225960, 67225982-67225989
143AIP110.415911379657658099367254487, 67254503-67254521, 67254541-67254542, 67254549, 67254565-67254571, 67254595-67254599, 67254643, 67256738-67256816, 67256822-67256836, 67256850-67256886, 67256909-67256926, 67257509-67257545, 67257576, 67257581-67257582, 67257588-67257617, 67257620, 67257652-67257679, 67257685, 67257787-67257807, 67257817-67257883, 67257890-67257928, 67258259-67258325, 67258338-67258426, 67258453-67258464
144NDUFS8110.6808846761453420263367799631-67799673, 67799766-67799803, 67800390-67800393, 67800431-67800443, 67800586-67800629, 67800641, 67800652-67800654, 67800669-67800688, 67800708, 67800722, 67803762, 67803789, 67803817-67803827, 67803993, 67804009-67804016, 67804019-67804022, 67804053-67804060
145TCIRG1110.574007220216611062249367808739, 67808781-67808787, 67808830-67808833, 67808853, 67809220-67809251, 67809260-67809281, 67810110-67810162, 67810174-67810226, 67810246-67810324, 67810438-67810493, 67810838-67810840, 67810959-67810964, 67811038-67811048, 67811072-67811074, 67811112, 67811281-67811364, 67811370-67811374, 67811599-67811600, 67811606-67811672, 67811684, 67811742-67811811, 67812508-67812546, 67812556-67812569, 67814930, 67815007-67815012, 67815018-67815025, 67815172, 67815202-67815212, 67815236-67815260, 67815391-67815392, 67816398-67816411, 67816447-67816464, 67816548-67816591, 67816604-67816612, 67816643-67816644, 67816692, 67816712-67816761, 67817130-67817164, 67817199-67817252, 67817451-67817470, 67817521, 67817604-67817641, 67817661-67817673, 67817679-67817721, 67817954-67817955, 67817966-67818004, 67818081-67818091
146LRP5110.91852310231023395484868080183-68080273, 68115710, 68131216, 68131244, 68131252-68131257, 68131266-68131279, 68131289-68131317, 68131379-68131408, 68153806-68153808, 68153922-68153929, 68153996-68153997, 68154141-68154147, 68171091-68171097, 68174085-68174092, 68174098, 68179033, 68181245, 68192690, 68201104, 68201162, 68201166, 68201213-68201224, 68201287-68201289, 68201293, 68204432-68204458, 68205950-68205961, 68206018-68206037, 68207253, 68207256, 68207343-68207381, 68213904-68213914, 68216277, 68216348-68216350, 68216414-68216433, 68216500-68216528
147CPT1A110.9896640826873424232268552287-68552310
148IGHMBP2110.96411804158283107298268671424, 68671454, 68671461, 68671471-68671500, 68671503-68671506, 68673555-68673561, 68682467, 68703959, 68704013, 68704026, 68704066-68704091, 68704335-68704337, 68704496, 68704509-68704537
149DHCR7110.9901960784313714142871146577, 71146585, 71146594, 71146661, 71146691, 71146841-71146849
150MYO7A110.703820697954271969664876853801, 76853804, 76853819-76853825, 76858848, 76858852-76858854, 76858897, 76858900-76858934, 76867725-76867726, 76867788-76867810, 76867982, 76867989, 76868020-76868023, 76869416-76869419, 76869430, 76871286, 76873176, 76873349-76873361, 76877207, 76883794-76883863, 76883870-76883888, 76883897-76883931, 76885802-76885960, 76886418-76886461, 76886472-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892494, 76892504-76892635, 76892997-76893200, 76893471-76893474, 76893487-76893510, 76893519-76893592, 76893606-76893645, 76894113-76894144, 76894153, 76894165-76894199, 76895653-76895672, 76895677-76895678, 76895705-76895745, 76895753-76895760, 76900392-76900431, 76900447-76900453, 76900513-76900515, 76901065-76901120, 76901164-76901184, 76901777-76901780, 76901786-76901833, 76901841-76901873, 76901902, 76903096-76903113, 76903146-76903177, 76903223, 76903268, 76903273-76903288, 76909550-76909570, 76909592-76909596, 76910766, 76919781
151FZD4110.998760842627012161486666123-86666124
152MTMR2110.99637681159427193295657105-95657111
153TRPC6110.9992846924177422796101454172-101454173
154RDX110.9994292237442911752110126048
155SDHD110.993753480111965640-111965642
156DRD2110.9992492492492511332113281449
157APOA1110.71393034825871230804116706593-116706620, 116706641-116706687, 116706698, 116706713-116706733, 116706743-116706778, 116706787-116706802, 116706813, 116706825-116706827, 116706834-116706841, 116706853-116706901, 116706921-116706924, 116706927-116706928, 116706939, 116708061-116708069, 116708087-116708090
158FXYD2110.801369863013787438117693112-117693119, 117693187-117693198, 117693205-117693210, 117693255, 117693264-117693291, 117693297-117693304, 117693360-117693383
159TECTA110.99149265274555556465120989160-120989206, 120989320-120989327
160ROBO3110.99519346310983204161124735538-124735551, 124738751-124738756
161WNK1120.971884179605542017149862732-862740, 862778-862810, 862855-862866, 862888-862914, 862981-862985, 863068-863094, 863103-863121, 863136-863152, 863205-863220, 863242-863260, 863313-863315, 863318-863319, 863324-863326, 863451-863457, 994809-994810
162CACNA2D4120.994434680726421934141904833, 1906584-1906585, 1906636-1906640, 1906657, 1909564-1909570, 1995203-1995205
163CACNA1C120.98231976832811665612676735-2676775, 2676835, 2676839-2676859, 2676907-2676912, 2676933-2676935, 2788725, 2788729-2788738, 2797927-2797945, 2800299-2800306, 2800347-2800352
164VWF120.990642027955467984426058181, 6078419, 6131926-6131932, 6132027-6132033, 6166040-6166076, 6166094-6166098, 6166212-6166229, 6167031-6167032, 6230433
165TNFRSF1A120.974415204678363513686438583-6438616, 6450948
166SCNN1A120.994513031550071221876458366-6458375, 6464571-6464572
167TPI1120.90666666666667707506976731-6976760, 6976773-6976782, 6976821-6976843, 6979461-6979467
168ATN1120.99860061572908535737045892-7045894, 7050648-7050649
169KRAS120.99122807017544557025380200-25380202, 25380250-25380251
170FGD4120.99869621903523230132760997, 32763733, 32764078
171DNM1L120.9819086386250640221132866211-32866250
172PKP2120.997215592680997251433049446, 33049463, 33049558-33049562
173LRRK2120.999077004219417758440761515-40761516, 40761563-40761567
174COL2A1120.999103942652334446448372131-48372132, 48377870, 48377875
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176DHH120.999160369437451119149484198
177TUBA1A120.99780701754386145649522445
178ACVRL1120.9933862433862410151252306935-52306942, 52307353, 52307387
179KRT81120.9374176548089695151852681920-52681925, 52682999-52683005, 52683957, 52684021-52684045, 52685019-52685052, 52685168, 52685182-52685202
180KRT86120.955509924709165146152695703-52695711, 52695817-52695818, 52696050, 52696897-52696933, 52697947-52697955, 52699955-52699961
181KRT83120.995276653171397148252714924-52714925, 52715020-52715021, 52715042-52715044
182KRT5120.997179921037795177352908838-52908841, 52912925
183AAAS120.9792809262644734164153701397, 53708206-53708213, 53708537-53708554, 53709161-53709166, 53715226
184RPS26120.971264367816091034856436266-56436275
185MYO1A120.999680715197961313257431772
186GNS120.9764918625678139165965152964-65152990, 65152998-65153009
187CEP290120.9966397849462425744088504979-88504991, 88519090, 88534747, 88534759, 88535021-88535023, 88535054-88535059
188HAL120.9934143870314113197496370216-96370228
189TMPO120.9808153477218240208598909879-98909911, 98921735-98921736, 98927728, 98927917-98927920
190UNG120.991507430997888942109535597, 109535602-109535607, 109547725
191TRPV4120.869266055045873422616110221438-110221474, 110221502-110221505, 110221514, 110221560, 110221569-110221581, 110222146, 110224516-110224544, 110224608-110224624, 110226227-110226236, 110226362, 110226368-110226369, 110230588-110230622, 110231391, 110232257-110232262, 110232266, 110234497, 110236422-110236435, 110236470-110236472, 110236485-110236486, 110236519, 110236526-110236539, 110236542-110236554, 110236562, 110236565-110236568, 110236616, 110238505-110238508, 110238515, 110238525, 110238531, 110238534-110238536, 110240837-110240877, 110246168-110246174, 110246201-110246231, 110252345-110252359, 110252426, 110252429-110252435, 110252439, 110252573-110252588
192ATP2A2120.9984020453819153129110719595-110719598, 110719629
193MYL2120.996007984031942501111348906-111348907
194ATXN2120.842719431760536203942111891498, 111908418-111908419, 112036588-112036591, 112036602-112036605, 112036608-112036610, 112036616-112036633, 112036646-112037140, 112037191-112037192, 112037196-112037237, 112037255-112037292, 112037308-112037318
195SDS120.9787234042553221987113835096, 113835116-113835117, 113835125-113835139, 113835157, 113836543, 113836574
196TBX3120.9995519713261612232115112324
197ACADS120.9967715899919341239121175219, 121175222, 121177145-121177146
198HNF1A120.811708860759493571896121416591-121416602, 121416622, 121416624, 121416628-121416635, 121416650, 121416728-121416766, 121432114-121432129, 121434189-121434202, 121434353-121434376, 121434412-121434416, 121434426, 121434432-121434437, 121434442-121434472, 121434477, 121435280, 121435297-121435300, 121435332-121435342, 121435353-121435358, 121435419-121435423, 121435427, 121437089-121437100, 121437136, 121437153-121437164, 121437286-121437315, 121437318, 121437325-121437326, 121437329, 121437333, 121437339-121437340, 121437359, 121437363-121437386, 121437412-121437424, 121438875-121438898, 121438909-121438925, 121438928, 121438947-121438957, 121438960-121438975
199HPD120.95346869712352551182122284778, 122286950-122286982, 122287671, 122287675, 122292651-122292652, 122294298-122294312, 122294530, 122295313
200PUS1120.93847352024922791284132414273-132414280, 132414305-132414334, 132414452, 132414486, 132414489, 132414500, 132414503, 132414511-132414530, 132414541, 132414550, 132414610-132414616, 132425992, 132426006-132426010, 132426499
201B3GALTL130.9699398797595245149731774224-31774268
202BRCA2130.99805011211855201025732911592-32911593, 32911596, 32911599, 32912473-32912474, 32954269-32954282
203FREM2130.9899053627760396951039261616-39261639, 39261824-39261868, 39261903-39261929
204SUCLA2130.997126436781614139248575370-48575373
205ATP7B130.998863119599825439852508954-52508958
206GPC6130.994604316546769166893879767-93879775
207ZIC2130.796122576610383261599100634361-100634366, 100634380-100634415, 100634469-100634491, 100634511-100634534, 100634586-100634601, 100634693, 100634701, 100634708-100634725, 100634915-100634916, 100635008-100635013, 100635176-100635181, 100635190-100635193, 100637250-100637252, 100637577-100637580, 100637622-100637639, 100637692, 100637704-100637747, 100637768-100637791, 100637793, 100637798-100637812, 100637816-100637888
208PCCA130.9986282578875232187100741424, 100741436, 100741454
209COL4A1130.98622754491018695010110959306-110959374
210F7130.1925093632958810781335113760156-113760219, 113765011-113765020, 113765023, 113765037-113765164, 113768066-113768075, 113768202-113768231, 113768248, 113768253-113768271, 113769974-113770072, 113770083-113770112, 113771080-113771148, 113771155-113771184, 113771787-113771788, 113771812-113771861, 113771884-113771910, 113772727-113772988, 113773004-113773046, 113773055-113773187, 113773228-113773288, 113773301, 113773310, 113773316-113773322
211F10130.728698023176553981467113777170-113777239, 113783910, 113798224-113798228, 113798232-113798233, 113798257, 113798261-113798262, 113798265-113798273, 113798305-113798315, 113798322-113798348, 113798366-113798393, 113803232-113803238, 113803254, 113803306-113803352, 113803395-113803408, 113803493-113803512, 113803531-113803577, 113803603-113803621, 113803646-113803674, 113803681-113803718, 113803802-113803821
212GRK1130.684988179669035331692114321718-114321736, 114321753-114321792, 114321809-114321879, 114321882, 114321895, 114321900-114321901, 114321906-114321912, 114321915-114321918, 114321954-114321975, 114322003, 114322018-114322084, 114322111-114322149, 114322163-114322263, 114322289, 114322295, 114322394-114322400, 114324006-114324013, 114324020-114324021, 114324070-114324072, 114324075-114324076, 114324108-114324113, 114325815-114325834, 114325862-114325891, 114325897, 114325903-114325904, 114325918-114325921, 114325941-114325971, 114426051-114426055, 114426073, 114426077-114426097, 114426124, 114426129-114426130, 114434314-114434315, 114435955-114435959, 114436042-114436044
213TEP1140.9980974124809715788420841493, 20841502, 20846950, 20848520-20848521, 20851766-20851769, 20851779-20851781, 20854711, 20854717, 20856162
214RPGRIP1140.9994819994822386121794314, 21795957
215SLC7A7140.9869791666666720153623282120-23282126, 23282365-23282377
216PABPN1140.929424538545066592123790681-23790683, 23790694-23790705, 23790753-23790759, 23790923-23790925, 23790967-23790991, 23791015-23791029
217MYH6140.9951890034364328582023867947-23867961, 23870150-23870151, 23871906-23871916
218NRL140.90476190476196871424550506, 24550555-24550560, 24550586-24550629, 24550644-24550645, 24550648, 24551742-24551744, 24551759, 24551772-24551781
219TGM1140.95843520782396102245424723489-24723494, 24723874, 24724287-24724289, 24724292-24724295, 24724304-24724311, 24724715, 24725244-24725276, 24727781-24727785, 24729262-24729264, 24731007, 24731454-24731490
220FOXG1140.76122448979592351147029236524-29236538, 29236620-29236898, 29236905-29236961
221COCH140.999395039322441165331344283
222NKX2-1140.88391376451078140120636986580-36986583, 36986588-36986601, 36986739-36986756, 36986831-36986910, 36988372-36988395
223C14orf104140.89299920445505269251450100601, 50100675-50100711, 50100735-50100770, 50100810-50100832, 50100939-50100942, 50101008-50101012, 50101048-50101057, 50101115-50101154, 50101232-50101239, 50101242-50101243, 50101259, 50101362-50101370, 50101411-50101418, 50101421, 50101435-50101471, 50101546-50101591, 50101613
224L2HGDH140.99928160919541139250778816
225PYGL140.9870283018867933254451410951-51410961, 51411090-51411110, 51411113
226GCH1140.909694555112886875355369131-55369136, 55369190-55369205, 55369234-55369272, 55369310, 55369353-55369358
227SYNE2140.9999517467670312072464556373
228ZFYVE26140.99908136482947762068241752-68241758
229VSX2140.9198895027624387108674706322-74706352, 74706381-74706395, 74706426-74706428, 74706436-74706470, 74727403, 74727407, 74727412
230EIF2B2140.9810606060606120105675469791-75469793, 75471494, 75471509, 75471584-75471597, 75471603
231MLH3140.999770747363591436275506635
232POMT2140.94052374611629134225377786826-77786852, 77786873-77786906, 77786938-77786963, 77786969-77787015
233AMN140.0249632892804713281362103389026-103389068, 103390048-103390112, 103390121-103390166, 103390280-103390295, 103390306, 103390315-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
234INF2140.2458666666666728283750105167707-105167749, 105167766-105167799, 105167807, 105167823-105167872, 105167875-105167876, 105167900-105168023, 105168042-105168093, 105169442, 105169454-105169497, 105169522-105169550, 105169633-105169676, 105169703-105169726, 105169735-105169791, 105170253-105170286, 105172372-105172387, 105172392-105172459, 105172480-105172513, 105173247-105173308, 105173322-105173323, 105173331-105173335, 105173344-105173386, 105173590-105173646, 105173673-105173698, 105173721-105173801, 105173819-105174339, 105174773-105174805, 105174816-105174870, 105174880-105174924, 105175012-105175054, 105175065-105175069, 105175618-105175654, 105175974-105176042, 105176426, 105176444-105176491, 105176499-105176525, 105177282, 105177310-105177344, 105177416-105177438, 105177445-105177457, 105177463-105177512, 105177519-105177523, 105177966-105178036, 105178770-105178774, 105178824-105178840, 105178873-105178890, 105179165-105179194, 105179204-105179236, 105179246, 105179256-105179276, 105179298-105179329, 105179563-105179646, 105179782-105179792, 105179796-105179856, 105179862, 105179876, 105179899-105179943, 105180584-105180687, 105180703, 105180706-105180707, 105180726-105180749, 105180763-105180805, 105180823-105180836, 105180856-105180888, 105180908-105180942, 105180954-105180982, 105180988-105181053, 105181078-105181118, 105181126-105181129, 105181137-105181148, 105181170-105181193, 105181648-105181655, 105181660-105181661, 105181665-105181675
235NIPA1150.8181818181818218099023049016, 23049019, 23086234-23086411
236IVD150.96799375487941128140698034-40698044, 40698054-40698083
237CHST14150.84703801945181173113140763413-40763497, 40763512, 40763523-40763528, 40763543, 40763566-40763588, 40763663-40763676, 40763682-40763690, 40763749, 40763752, 40763756, 40763763, 40763766-40763767, 40763806-40763831, 40763861-40763862
238CDAN1150.9763843648208587368443021794, 43022929-43022934, 43028665-43028698, 43028706-43028712, 43028749, 43028795-43028823, 43029265-43029269, 43029273-43029275, 43029300
239STRC150.998686186186197532843897034, 43910867-43910872
240SPG11150.9982269503546113733244912435-44912446, 44955704
241DUOX2150.9954809554551321464745392340, 45392414-45392420, 45393463-45393465, 45403583, 45403588-45403589, 45403691-45403694, 45403780, 45404073-45404074
242GATM150.9732704402515734127245670598-45670631
243TPM1150.99883040935673185563335072
244PPIB150.970814132104451965164455099, 64455168-64455185
245MAP2K1150.999153976311341118266679744
246CLN6150.961538461538463693668500487-68500489, 68521857-68521889
247NR2E3150.9882246376811613110472103140-72103141, 72103856-72103866
248HEXA150.9666666666666753159072668061-72668075, 72668115-72668121, 72668162-72668171, 72668265-72668285
249HCN4150.78239202657807786361273614888-73614907, 73615005, 73615052-73615067, 73615234-73615235, 73615398-73615429, 73615517-73615521, 73615903-73615907, 73616149-73616163, 73616166, 73616191-73616198, 73616205-73616223, 73616431-73616433, 73616453, 73617318-73617319, 73659849-73659870, 73659946-73659962, 73659995-73660611
250MPI150.955974842767356127275185068-75185093, 75189997-75190026
251PSTPIP1150.0423661071143091198125177310489-77310589, 77310798-77310872, 77317630, 77317641-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321872-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
252POLG150.96236559139785140372089867415-89867421, 89871752-89871766, 89872005-89872034, 89872038, 89873371-89873375, 89876436-89876437, 89876596, 89876611-89876612, 89876660, 89876664-89876681, 89876721, 89876728-89876729, 89876732, 89876792-89876795, 89876802-89876840, 89876844-89876854
253MESP2150.7177554438861337119490319635-90319641, 90319685-90319703, 90319746-90319750, 90319766, 90319769, 90319806-90319878, 90319904-90319941, 90319958-90319987, 90320005-90320028, 90320066-90320072, 90320109, 90320129-90320161, 90320173, 90320221-90320231, 90320234, 90320258-90320289, 90320396-90320430, 90321464-90321481
254BLM150.997884344146699425491337400, 91337404-91337406, 91337568-91337571, 91337579
255IGF1R150.9907407407407438410499192891-99192897, 99500544, 99500580-99500607, 99500610, 99500671
256HBZ160.33566433566434285429202938-202943, 202964-202966, 202971-202978, 203893-203895, 203907-204035, 204052-204095, 204271-204314, 204352-204399
257HBM160.983568075117377426216029-216034, 216331
258HBA2160.61538461538462165429222912-222946, 222952-223006, 223192-223233, 223264, 223281, 223296-223311, 223471-223478, 223569-223575
259GNPTG160.705882352941182709181401967-1402018, 1402103-1402160, 1402240-1402264, 1402278-1402307, 1412065-1412099, 1412207-1412227, 1412252-1412300
260CLCN7160.39826302729529145524181496639-1496657, 1496682-1496718, 1497007-1497036, 1497053-1497087, 1497393-1497497, 1497513-1497569, 1497656-1497715, 1498356-1498357, 1498367-1498388, 1498398-1498431, 1498438-1498485, 1498682, 1498688-1498697, 1498719-1498729, 1498732-1498747, 1498750-1498767, 1498970-1499012, 1499035-1499081, 1499090-1499094, 1499277-1499309, 1499322-1499328, 1500498-1500538, 1500558-1500667, 1501629-1501638, 1501659-1501717, 1502756, 1502762, 1502770, 1502777-1502811, 1502825, 1502834-1502894, 1503840-1503864, 1503870-1503875, 1503879, 1504412-1504431, 1504448, 1504463-1504466, 1505176-1505220, 1505224, 1505732-1505752, 1505759-1505796, 1506114-1506121, 1506130, 1506134-1506207, 1507255-1507270, 1507293-1507294, 1507730, 1509108-1509144, 1509157-1509188, 1510503-1510515, 1510876, 1510943-1510949, 1524835-1524975
261IGFALS160.23861283643892147119321840601, 1840614-1840668, 1840673-1840676, 1840696-1840793, 1840800-1840863, 1840874-1840900, 1840938-1840973, 1840987, 1841004-1841148, 1841205-1841288, 1841294-1841326, 1841346-1841349, 1841358-1841360, 1841376-1841395, 1841410-1841465, 1841479-1841578, 1841586-1841587, 1841596-1841623, 1841635-1841652, 1841679-1841711, 1841746, 1841751-1841768, 1841787-1841796, 1841815-1842163, 1842175-1842199, 1842206-1842363, 1842372-1842392, 1842415-1842434, 1842438-1842444, 1842460-1842486, 1842496-1842516, 1843652-1843653
262GFER160.302588996763754316182034220-2034477, 2034748-2034763, 2034770, 2034788-2034800, 2034803-2034847, 2034853-2034854, 2034860, 2034889-2034901, 2035868, 2035902-2035925, 2035928, 2035965, 2035975-2036029
263TSC2160.15523598820059458254242098617-2098623, 2098644-2098667, 2098702-2098754, 2100406-2100408, 2100458, 2100479, 2100483, 2103343-2103371, 2103384-2103447, 2103452-2103453, 2104304-2104307, 2104313, 2104327, 2104340-2104342, 2104359-2104362, 2104381-2104403, 2104436, 2105408, 2105416-2105417, 2105460-2105480, 2106197-2106223, 2106645-2106661, 2106678, 2106725-2106727, 2108755, 2108769-2108819, 2108822-2108841, 2108853, 2108857-2108858, 2108866, 2108869-2108874, 2110671-2110814, 2111883-2111904, 2111916-2111944, 2111974-2112009, 2112510-2112590, 2112600-2112601, 2112973-2113054, 2114273-2114428, 2115520-2115552, 2115562-2115622, 2115634-2115635, 2120463-2120579, 2121511-2121617, 2121785-2121935, 2122242-2122247, 2122273-2122364, 2122874, 2122877-2122915, 2122934-2122984, 2124201-2124390, 2125800-2125893, 2126069-2126081, 2126098-2126114, 2126118-2126121, 2126131-2126171, 2126492-2126537, 2126550-2126586, 2127599-2127727, 2129033-2129108, 2129120-2129153, 2129167-2129197, 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, 2138447-2138473, 2138485-2138611
264PKD116012912129122139728-2140195, 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
265ABCA3160.839687194525982051152327635, 2327644, 2327649, 2327659, 2327662, 2327880-2327899, 2327938, 2327959-2327986, 2328035-2328070, 2328356-2328393, 2328405-2328430, 2328437-2328459, 2328975-2329000, 2329034, 2329091, 2329130-2329131, 2331057, 2331060, 2331065-2331067, 2331071, 2331088, 2331134-2331156, 2331212, 2331218, 2331430, 2331476-2331510, 2333187-2333219, 2333248-2333264, 2333311-2333359, 2334292-2334310, 2334321-2334361, 2334967-2334999, 2335455-2335461, 2335563, 2335589-2335590, 2336743, 2338080-2338081, 2338084-2338089, 2338237, 2338240, 2338248, 2339435-2339440, 2339560-2339561, 2339565-2339577, 2339597, 2342154-2342158, 2342163, 2345634-2345635, 2345638-2345639, 2345648-2345655, 2345675, 2345734, 2347330-2347349, 2347387-2347416, 2347428-2347446, 2347468-2347469, 2347492-2347524, 2347539-2347540, 2347767-2347770, 2347774, 2347785, 2347881-2347906, 2348387-2348420, 2348530, 2349448-2349454, 2350006-2350022, 2350053-2350079, 2354090-2354117, 2358528, 2358608-2358624, 2367754-2367765, 2369597, 2369654-2369657, 2369818-2369819
266MEFV160.8495311167945435323463293223-3293236, 3293239, 3293421-3293452, 3293466, 3293471, 3293534-3293539, 3293552, 3293624-3293650, 3293888, 3294482-3294499, 3294507, 3297159, 3298963, 3298991-3298998, 3299491-3299494, 3299499, 3299502-3299504, 3299509-3299518, 3299543, 3299709, 3304443-3304491, 3304516-3304520, 3304526, 3304538, 3304586-3304593, 3304601-3304640, 3304670-3304681, 3304700, 3304778, 3306325-3306425, 3306570
267SLX4160.9636693914623120055053632428-3632441, 3632530, 3632542, 3632545, 3632579-3632583, 3632592, 3632602, 3633278, 3633281-3633287, 3633294-3633297, 3639026-3639030, 3639099-3639104, 3639230-3639242, 3639357, 3639379, 3639454-3639461, 3639752, 3639764, 3639774-3639782, 3639788-3639795, 3639912-3639915, 3639995-3640002, 3640102-3640105, 3640110, 3640505-3640510, 3642809-3642812, 3642862-3642866, 3644557, 3644567, 3646154, 3646165, 3646207-3646210, 3647468, 3647472-3647474, 3647484-3647485, 3647534-3647538, 3647576-3647597, 3647802-3647831, 3647877-3647878, 3647891, 3650983, 3650994-3650996, 3651032
268CREBBP160.9383271933415245273293777747, 3778147-3778166, 3778299, 3778303-3778305, 3778314, 3778317-3778320, 3778326-3778328, 3778332-3778333, 3778379-3778386, 3778393-3778461, 3778554-3778573, 3778596-3778605, 3778632, 3778637-3778644, 3778858-3778899, 3778931-3778984, 3778997-3779001, 3779068-3779079, 3779096, 3779132-3779163, 3779190-3779219, 3779363-3779412, 3779446-3779471, 3779482-3779498, 3779722-3779733, 3819239, 3819242, 3929833-3929849, 3929894
269GLIS2160.09015873015873143315754382282-4382301, 4382320-4382326, 4382374-4382401, 4382417, 4382429-4382453, 4383348-4383381, 4383391-4383520, 4384812-4384978, 4385061-4385194, 4385276-4385293, 4385326-4385394, 4386726-4387525
270ALG1160.7892473118279629413955128831-5128876, 5129065-5129095, 5130949-5131000, 5131007-5131057, 5132560-5132594, 5133741-5133758, 5134751-5134754, 5134811-5134844, 5134860-5134882
271ABAT160.991350632069191315038870324, 8873422-8873433
272ABCC6160.79676418439716917451216244033-16244045, 16248600, 16253353-16253358, 16253384, 16255300-16255341, 16255347-16255392, 16255402-16255404, 16255417-16255421, 16256891-16256910, 16256913, 16256935-16256938, 16256944, 16256977-16257024, 16257034, 16259480-16259583, 16259586, 16259596, 16259604-16259625, 16259638-16259639, 16259660, 16259681, 16259697-16259790, 16263503-16263673, 16263680-16263710, 16267148-16267219, 16267236-16267256, 16269768-16269810, 16271309-16271312, 16271340, 16271348-16271350, 16271386-16271439, 16271451, 16271483, 16272659, 16272670, 16272674-16272675, 16272684-16272694, 16272698, 16272702-16272703, 16272745-16272756, 16276341-16276342, 16276713, 16276742-16276748, 16276756, 16278830-16278832, 16278842, 16278888, 16280984, 16280987, 16282700, 16282751, 16284100, 16286708, 16291878-16291893, 16291948-16291958, 16292000-16292002, 16297272-16297278, 16315608, 16317270, 16317277-16317282
273UMOD160.9703588143525757192320359858, 20359860, 20359867-20359884, 20359921-20359928, 20359991, 20360245, 20360249, 20360259-20360269, 20360302-20360316
274OTOA160.999415204678362342021696601-21696602
275SCNN1B160.999479979199171192323392090
276COG7160.9904885430177322231323400267-23400286, 23409381, 23409385
277CLN3160.9779802581624929131728493976, 28497673-28497675, 28497679-28497680, 28497683-28497685, 28497692-28497693, 28497711-28497713, 28497725, 28499932, 28499954-28499955, 28500690-28500699, 28502836
278TUFM160.9495614035087769136828857282, 28857329, 28857332-28857347, 28857380-28857399, 28857426, 28857561-28857590
279ATP2A1160.999667332002661300628898793
280PHKG2160.9238329238329293122130760142-30760188, 30760228-30760236, 30764730, 30768125-30768142, 30768335-30768340, 30768343, 30768364-30768374
281VKORC1160.943089430894312849231102617-31102634, 31102648-31102649, 31102656-31102663
282FUS160.989879822896916158131191536-31191548, 31195296, 31195616, 31195692
283SLC5A2160.90936106983655183201931497113, 31498999, 31499002-31499004, 31499365-31499378, 31499464-31499481, 31499704-31499713, 31499775-31499804, 31500024, 31500046, 31500050-31500069, 31500207-31500245, 31500271-31500274, 31500277-31500278, 31500304-31500305, 31500323-31500346, 31500474, 31501739-31501750
284SALL1160.9972327044025211397551175656-51175666
285MMP2160.9788199697428142198355513460-55513465, 55513489-55513524
286SLC12A3160.9282250242483222309356899212-56899222, 56899375-56899381, 56901029-56901038, 56901048, 56901069-56901080, 56901108-56901120, 56904614-56904620, 56912002-56912042, 56912073, 56913015-56913016, 56913095-56913125, 56913500, 56913513, 56913560-56913561, 56920281, 56920293-56920297, 56920972-56920988, 56920998, 56921837-56921850, 56921879-56921893, 56921896, 56921916-56921943
287COQ9160.960292580982243895757481418-57481455
288GPR56160.9709302325581460206457684239, 57688011, 57689342-57689345, 57689348-57689359, 57689398, 57693325-57693334, 57695677-57695707
289CNGB1160.999467518636852375657991245, 57994756
290TK2160.938311688311695792466583841-66583848, 66583931-66583950, 66584002, 66584015-66584017, 66584040-66584064
291HSD11B2160.8136288998358227121867465152-67465312, 67465331-67465338, 67465344-67465379, 67465390-67465405, 67469921, 67469925-67469929
292LCAT160.65154950869237461132367973807, 67973810, 67973856-67973895, 67973905-67973950, 67973994, 67973997, 67974002-67974004, 67974021-67974022, 67974033-67974038, 67974068-67974073, 67974096-67974098, 67974105-67974114, 67974167-67974195, 67974285, 67976297-67976309, 67976368, 67976390-67976427, 67976443-67976463, 67976485-67976490, 67976574-67976598, 67976606-67976626, 67976654-67976659, 67976663-67976669, 67976764-67976793, 67976852-67976879, 67976959-67976995, 67977014-67977032, 67977084-67977115, 67977972-67977986, 67977993-67978004
293CDH3160.9923694779116519249068713730, 68718659-68718661, 68718694-68718696, 68718703, 68719119-68719122, 68725701, 68725783, 68725825-68725829
294CDH1160.998867497168743264968771348-68771350
295COG8160.91245241979337161183969364742-69364755, 69364761-69364850, 69373133, 69373177, 69373206-69373208, 69373215-69373219, 69373225-69373259, 69373320-69373322, 69373411-69373419
296GCSH160.869731800766286852281124206, 81129736-81129763, 81129817-81129818, 81129821-81129832, 81129859-81129883
297GAN160.9821627647714632179481348759-81348765, 81348789-81348802, 81348875-81348885
298MLYCD160.88663967611336168148283932750-83932751, 83932771, 83932774-83932775, 83932780, 83932787, 83932790, 83932793, 83932804-83932807, 83932810, 83932825-83932856, 83932871-83932886, 83932980-83933012, 83933038-83933041, 83933088-83933114, 83933173-83933204, 83933225-83933234
299LRRC50160.9912764003673119217884179155-84179169, 84209651-84209652, 84209660, 84209864
300FOXF1160.73947368421053297114086544176-86544186, 86544206-86544253, 86544307, 86544310, 86544512-86544555, 86544583-86544616, 86544657-86544665, 86544687-86544719, 86544734-86544742, 86544755-86544771, 86544838-86544850, 86544867-86544868, 86544873-86544874, 86544877-86544882, 86544911-86544948, 86544955-86544968, 86546547, 86546655-86546662, 86546686-86546691
301FOXC2160.66865869853918499150686601010-86601035, 86601045-86601068, 86601125, 86601128-86601133, 86601213-86601219, 86601259-86601263, 86601334-86601338, 86601387-86601395, 86601399-86601418, 86601481-86601563, 86601595-86601707, 86601730-86601731, 86601772-86601799, 86601821-86601822, 86601838-86601870, 86601873-86601880, 86601883, 86601916-86601951, 86601968-86601971, 86601981-86601994, 86602020-86602030, 86602058, 86602132-86602136, 86602178-86602205, 86602255-86602279, 86602322, 86602368
302JPH3160.56519804183356977224787636852-87636853, 87636856-87636960, 87636969-87636970, 87637096-87637109, 87677965-87677993, 87678030-87678038, 87678057-87678094, 87678130-87678137, 87678144, 87678165, 87678169, 87678322-87678358, 87678388-87678397, 87678565, 87678569, 87678627-87678635, 87678640, 87717748-87717788, 87717807, 87717819-87717822, 87717829-87717835, 87723252-87723334, 87723347, 87723360-87723483, 87723507-87723547, 87723577-87723586, 87723594, 87723599-87723611, 87723613-87723634, 87723637-87723694, 87723708-87723800, 87723835-87723836, 87723844-87723865, 87723868, 87723879-87723894, 87723910-87723945, 87723959-87724069, 87724098-87724112, 87724127-87724132
303CYBA160.1190476190476251858888709761-88709979, 88712524-88712548, 88712567-88712605, 88713163-88713204, 88713227-88713246, 88713509-88713576, 88714453-88714460, 88714473-88714485, 88714494-88714519, 88717364-88717421
304APRT160.1178637200736647954388876106-88876234, 88876242-88876248, 88876478-88876556, 88876831-88876866, 88876886-88876905, 88876924-88876951, 88877958-88878010, 88878018-88878064, 88878228-88878307
305GALNS160.52326322498407748156988880847-88880867, 88880931-88880933, 88884415-88884532, 88888997-88889118, 88891175-88891215, 88891230-88891277, 88893110-88893154, 88893184-88893210, 88898406-88898409, 88898429-88898441, 88902146-88902147, 88902199-88902203, 88902211, 88902250-88902257, 88902662-88902672, 88904048, 88904052-88904053, 88904061, 88904162, 88904173, 88907400-88907464, 88908362-88908379, 88909114-88909150, 88909163, 88909169, 88909177-88909205, 88909211-88909214, 88909232-88909237, 88923166-88923218, 88923227-88923285
306SPG7160.93509212730318155238889574826-89574852, 89574867, 89574957, 89574977, 89574985-89575001, 89575007-89575008, 89576898, 89576958-89576965, 89579415-89579416, 89598333-89598341, 89598388, 89620332-89620357, 89620896-89620909, 89623403, 89623444-89623451, 89623459-89623494
307FANCA160.93658424908425277436889805026-89805051, 89805055, 89805059-89805062, 89805102-89805113, 89805333-89805348, 89805564, 89807233, 89813068-89813073, 89815113, 89815152, 89831368-89831371, 89833596-89833597, 89836361, 89836426-89836432, 89837009-89837042, 89838101-89838141, 89839746, 89839753-89839760, 89842161-89842176, 89842206, 89858347, 89877341-89877350, 89882288-89882289, 89882340, 89882945-89883023
308TUBB3160.48410938654841698135389989810-89989834, 89989865-89989866, 89998979-89998985, 89999045, 89999051, 90001191-90001195, 90001222-90001223, 90001228, 90001248-90001289, 90001331-90001368, 90001428-90001463, 90001474-90001510, 90001540-90001564, 90001576-90001607, 90001637-90001761, 90001770, 90001776, 90001787-90001824, 90001832-90001838, 90001866-90001916, 90001932-90001938, 90001952-90001987, 90001994-90002003, 90002026-90002046, 90002061-90002110, 90002116-90002212
309PRPF8170.992294520547955470081557209-1557219, 1580331-1580334, 1586978-1586980, 1587766-1587798, 1587860-1587862
310CTNS170.7157107231920234212033550777-3550788, 3552147-3552150, 3552223-3552225, 3558515-3558518, 3559781-3559802, 3559823, 3559845, 3559848-3559849, 3559855-3559858, 3559866-3559867, 3559871, 3559970-3560077, 3560088, 3561299-3561342, 3561355-3561380, 3561396, 3563191, 3563196-3563197, 3563205-3563206, 3563213, 3563243-3563260, 3563533, 3563589-3563638, 3563911-3563941
311CHRNE170.736167341430539114824802103, 4802106-4802110, 4802174-4802186, 4802302-4802338, 4802350-4802356, 4802367, 4802534-4802584, 4802596-4802621, 4802627-4802679, 4802763-4802783, 4802803-4802816, 4802824, 4802837, 4802866, 4804113-4804138, 4804172-4804202, 4804287-4804306, 4804324-4804339, 4804400-4804457, 4804474, 4804481-4804485, 4805305, 4805343
312GP1BA170.990104166666671919204837743-4837761
313PITPNM3170.8868376068376133129256358658-6358675, 6358688, 6358699-6358701, 6358708-6358722, 6358736-6358770, 6358785-6358800, 6358818-6358882, 6358931-6358937, 6358953-6358955, 6358959, 6367632, 6373635, 6374481-6374522, 6374528-6374532, 6374538, 6374541-6374546, 6374583-6374600, 6376073-6376085, 6376121-6376127, 6377918-6377924, 6380442, 6380481-6380484, 6381295-6381322, 6381969, 6381973, 6381977-6381984, 6382017, 6459705-6459726
314ACADVL170.9171747967479716319687123304-7123364, 7123441-7123470, 7123483-7123489, 7124093, 7124324-7124325, 7124339, 7124345-7124346, 7124857-7124867, 7125331-7125334, 7126108-7126111, 7126518, 7126981-7126987, 7127528-7127534, 7127681, 7127983, 7127989-7127991, 7128276-7128280, 7128369-7128383
315CHRNB1170.968791500664014715067348461-7348480, 7348484, 7348625, 7350212, 7350879-7350893, 7358603-7358611
316GUCY2D170.9667874396135311033127906369, 7906379, 7906383-7906407, 7906568, 7906572-7906578, 7906595, 7906599, 7906603-7906606, 7906637-7906647, 7906651-7906654, 7906661-7906662, 7906672-7906673, 7906693-7906722, 7906730, 7906733-7906736, 7906786, 7906789, 7906854, 7906864-7906867, 7906906, 7906910, 7906913, 7907172, 7907175-7907178
317ALOX12B170.99952516619183121067982773
318HES7170.833333333333331136788024893-8024913, 8024953, 8024978-8025025, 8025087-8025115, 8025250-8025263
319MYH3170.999828267216211582310555818
320ELAC2170.999596936719061248112906814
321TNFRSF13B170.988662131519271088216842943, 16843026, 16843661, 16852237, 16852243, 16852249-16852253
322FLCN170.91091954022989155174017117150, 17118560-17118563, 17122384-17122413, 17124853, 17124939-17124940, 17125863-17125898, 17127326-17127360, 17127438, 17129573, 17131204-17131226, 17131241-17131243, 17131253-17131264, 17131276-17131279, 17131283, 17131372
323RAI1170.87152595700052735572117696410-17696414, 17696446, 17696449, 17696485-17696486, 17696728-17696736, 17697099-17697112, 17697115-17697119, 17697234-17697247, 17697420-17697426, 17697548-17697551, 17697590-17697627, 17697700-17697742, 17697815-17697829, 17697901-17697912, 17698046-17698062, 17698172-17698197, 17698210-17698211, 17698245-17698248, 17698259-17698260, 17698265, 17698291-17698331, 17698512-17698523, 17698643-17698645, 17698781-17698854, 17698863-17698869, 17698971-17698975, 17699037-17699044, 17699094-17699095, 17699149-17699167, 17699212-17699235, 17699257-17699300, 17699314-17699338, 17699375-17699401, 17699451, 17699546-17699588, 17699619-17699639, 17699744-17699752, 17699841-17699846, 17700012, 17700573, 17700650-17700651, 17700901-17700918, 17701079, 17701083-17701085, 17701153-17701184, 17701511-17701513, 17701537-17701538, 17701541-17701547, 17701596, 17701604-17701613, 17701705-17701707, 17701740-17701754, 17707147-17707160, 17712723-17712750, 17713291
324MYO15A170.773152081563324031059318022204-18022207, 18022254, 18022259, 18022264, 18022301-18022323, 18022418-18022421, 18022433-18022435, 18022460-18022485, 18022567-18022574, 18022601-18022607, 18022614, 18022657-18022703, 18022759, 18022939, 18022997-18023044, 18023073, 18023089, 18023097, 18023195-18023203, 18023227-18023258, 18023282, 18023285, 18023289, 18023323-18023328, 18023332, 18023343, 18023346, 18023354-18023356, 18023369-18023427, 18023439-18023455, 18023467-18023492, 18023495-18023496, 18023544, 18023547, 18023554, 18023614-18023659, 18023670, 18023680-18023794, 18023810, 18023813, 18023816-18023837, 18023855-18023912, 18023916-18023917, 18023923-18023943, 18023959, 18023963-18023964, 18023970-18023975, 18023982-18024059, 18024071-18024924, 18024938-18024960, 18024966-18024991, 18025007-18025018, 18025024, 18025028, 18025032, 18025035-18025048, 18025056-18025091, 18025110-18025132, 18025142-18025203, 18025217-18025269, 18025299-18025300, 18025303-18025311, 18025316-18025317, 18025327, 18025331, 18025373, 18025380-18025399, 18025408, 18025413, 18025420, 18025423-18025444, 18025473-18025511, 18025530-18025575, 18025589, 18025599-18025601, 18025657-18025663, 18025683, 18025691, 18025705, 18027814-18027847, 18028490-18028491, 18029664, 18029742-18029770, 18039750, 18041454, 18042859-18042865, 18042907-18042913, 18044338-18044345, 18044969-18044976, 18045400-18045402, 18045406-18045410, 18045478-18045481, 18045501-18045503, 18045529-18045541, 18045551-18045568, 18046073-18046109, 18046914-18046925, 18047029-18047035, 18047081, 18047191, 18047199, 18047237-18047293, 18047843, 18047856-18047857, 18047870, 18047874-18047890, 18049194-18049199, 18049324-18049329, 18049369, 18054227, 18054835, 18057100-18057128, 18057131-18057134, 18057162-18057167, 18057196-18057201, 18058003-18058004, 18058045-18058047, 18061097-18061119, 18061139-18061176, 18070904-18070917, 18070937-18070943, 18070963-18070975
325UNC119170.7441217150760718572326874699, 26874774-26874780, 26875017-26875024, 26879356-26879357, 26879368-26879478, 26879499, 26879502-26879535, 26879540-26879549, 26879552-26879555, 26879559-26879565
326NEK8170.9975949975955207927061827, 27065198, 27067966, 27068002, 27068115
327SLC6A4170.9815108293713735189328543181-28543199, 28543204, 28543220-28543234
328NF1170.9970657276995325852029422370-29422374, 29554603-29554622
329HNF1B170.9850657108721625167436104571-36104575, 36104712-36104713, 36104764-36104769, 36104835-36104846
330TCAP170.7638888888888911950437821621-37821650, 37821973-37821976, 37822035, 37822102-37822121, 37822154-37822177, 37822199-37822231, 37822251-37822254, 37822311, 37822361-37822362
331KRT10170.99886039886042175538975328-38975329
332KRT14170.89358703312192151141939738760, 39739368, 39739553-39739562, 39740629-39740630, 39741304-39741309, 39742619, 39742668-39742685, 39742829-39742872, 39742886, 39742894, 39742898-39742899, 39742917, 39742920, 39742940-39742956, 39742967-39743008, 39743051, 39743077, 39743086
333KRT16170.950773558368570142239766265-39766281, 39768480-39768496, 39768658-39768664, 39768721-39768746, 39768842, 39768847, 39768852
334KRT17170.71054657428791376129939776809-39776810, 39776931-39776932, 39776938, 39776945, 39776971-39777019, 39777051-39777097, 39777224-39777245, 39778649, 39779227, 39779253, 39779257, 39779261, 39779266, 39779269, 39780330-39780388, 39780409-39780420, 39780434-39780471, 39780505-39780564, 39780572-39780597, 39780616, 39780627, 39780639, 39780670-39780673, 39780678-39780704, 39780707-39780721, 39780761
335JUP170.9924039320822217223839912027, 39912031-39912046
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337STAT5B170.95177664974619114236440369396-40369397, 40370211-40370217, 40370277-40370281, 40370741-40370767, 40370775, 40370801-40370807, 40371354-40371399, 40371438-40371453, 40371737-40371738, 40371744
338NAGLU170.95474910394265101223240688295, 40688311, 40688361, 40688370-40688400, 40688491-40688495, 40688501-40688510, 40688521-40688572
339WNK4170.990621650589535373240932765, 40932809-40932817, 40932824-40932838, 40932891, 40947514, 40948199-40948202, 40948549-40948552
340SOST170.99844236760125164241833017
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403LDLR190.99649122807018128511242106
404PRKCSH190.85759294265911226158711547308-11547326, 11548888-11548903, 11552120-11552146, 11552152, 11557097, 11557904, 11558275, 11558328-11558409, 11558523-11558562, 11558583-11558604, 11560112, 11560213-11560227
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426RPS19190.99086757990868443842364848, 42364858, 42364862, 42364865
427ATP1A3190.96220772158782139367842470752-42470765, 42470794-42470817, 42470872-42470876, 42470901, 42470913, 42470919, 42470926-42470943, 42470999-42471002, 42471027-42471029, 42471050, 42471061-42471063, 42471097-42471100, 42471317-42471323, 42471443-42471447, 42471883-42471885, 42480568-42480604, 42480694-42480695, 42498223-42498228
428ETHE1190.938562091503274776544012096-44012142
429BCAM190.9602543720190875188745312398-45312441, 45324009-45324014, 45324039-45324041, 45324045-45324048, 45324058-45324075
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438FTL190.99242424242424452849468783, 49469027-49469028, 49469097
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454LPIN120.998503554059114267311911795-11911798
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457APOB20.99795501022495281369221266759-21266783, 21266790-21266792
458POMC20.905472636815927680425383950-25383954, 25384137, 25384191-25384197, 25384371, 25384408-25384440, 25384453-25384480, 25384593
459HADHA20.998691099476443229226414418, 26414432, 26414438
460OTOF20.53470136803472789599426684962-26684983, 26686361, 26686970-26686974, 26687749-26687753, 26687812-26687839, 26687895-26687897, 26688922-26688937, 26689673-26689703, 26689994-26690003, 26690043-26690044, 26690071-26690078, 26690101, 26690255-26690257, 26690268, 26690298, 26693481-26693516, 26693573-26693585, 26694007, 26694010-26694018, 26695387-26695517, 26696000-26696162, 26696274-26696369, 26696379-26696391, 26696402-26696435, 26696859-26696978, 26697381-26697542, 26698230-26698245, 26698269-26698361, 26698782-26698906, 26698996-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702252, 26702341-26702521, 26703071-26703096, 26703118-26703179, 26703654-26703845, 26703851-26703877, 26705274-26705276, 26705288-26705311, 26705320-26705383, 26705405-26705460, 26706330, 26706337-26706360, 26706385-26706396, 26706434, 26706438-26706453, 26706486-26706498, 26707342-26707360, 26707366-26707368, 26707379, 26707384-26707405, 26707447-26707452, 26707495-26707501, 26712079-26712083, 26712120-26712163, 26712562-26712608, 26739366-26739376
461ALK20.999383096853793486330143485-30143487
462SPAST20.9546191247974184185132289002-32289012, 32289019-32289021, 32289086-32289091, 32289124-32289127, 32289156-32289182, 32289213-32289236, 32289252, 32289255-32289256, 32289259-32289263, 32289271
463CYP1B120.90196078431373160163238301508-38301511, 38301828-38301839, 38301926-38301927, 38302006-38302024, 38302044, 38302066-38302074, 38302197-38302226, 38302231-38302249, 38302251-38302265, 38302290-38302297, 38302374-38302377, 38302413-38302449
464SOS120.999750124937531400239281919
465ABCG520.997443762781195195644055143-44055146, 44059195
466ABCG820.9080118694362186202244099134-44099172, 44099191-44099239, 44099266-44099273, 44099362-44099370, 44099420-44099445, 44100969-44101010, 44101090, 44102300, 44102405, 44102483, 44102486-44102494
467LRPPRC20.9959378733572317418544223070-44223086
468SIX320.965965965965973499945169337-45169340, 45169430-45169435, 45169527, 45169638-45169653, 45169776-45169777, 45170030-45170034
469EPCAM20.948148148148154994547596645, 47596674-47596720, 47601090
470MSH220.992156862745122280547630391, 47630395-47630401, 47630405, 47630459-47630463, 47630471-47630477, 47630485
471MSH620.96032329169728162408348010411-48010412, 48010416-48010488, 48010491-48010495, 48010506-48010508, 48010526-48010583, 48010601-48010621
472LHCGR20.9895238095238122210048982759-48982761, 48982767-48982785
473NRXN120.9977401129943510442551254759-51254763, 51255123-51255126, 51255358
474ATP6V1B120.9896238651102516154271163094-71163100, 71192100, 71192142-71192148, 71192206
475DYSF20.96619496855346215636071780306, 71789040, 71797799-71797801, 71801432, 71801486-71801492, 71825733-71825771, 71825778-71825827, 71825840-71825841, 71825850-71825860, 71827890, 71827940-71827970, 71829911, 71829914-71829921, 71838468-71838476, 71838597, 71839854-71839856, 71839890-71839917, 71847677, 71847707-71847723
476SPR20.894402035623418378673114597-73114613, 73114704-73114733, 73114776-73114783, 73114789-73114816
477ALMS120.99872040946897161250473613032-73613040, 73613059, 73676783-73676787, 73828342
478MOGS20.91447891805887215251474688530-74688536, 74688606-74688624, 74688814-74688830, 74688863-74688864, 74688995-74689013, 74689043, 74689046-74689047, 74689082-74689087, 74689095, 74689549-74689553, 74689697-74689701, 74689862, 74689992, 74690403, 74691655, 74692028, 74692046-74692055, 74692160, 74692168-74692174, 74692223-74692224, 74692229, 74692241-74692282, 74692287-74692294, 74692312-74692366
479HTRA220.9869281045751618137774757142, 74757150-74757152, 74757246-74757258, 74757367
480SUCLG120.999039385206531104184686337
481GGCX20.9912165129556420227785788083-85788084, 85788520-85788537
482REEP120.996699669967260686564632-86564633
483EIF2AK320.9782154580722273335188926574-88926618, 88926679, 88926687-88926697, 88926726-88926741
484TMEM12720.913528591352866271796930876, 96930927-96930929, 96930956-96930966, 96930989, 96931012, 96931052, 96931056, 96931076-96931118
485ZAP7020.997311827956995186098340548-98340550, 98340845-98340846
486RANBP220.95028423772614819675109347888-109347894, 109352000-109352039, 109352142, 109357050-109357079, 109357110-109357116, 109365376-109365394, 109368049, 109368064-109368110, 109368327-109368342, 109369915-109369957, 109370395-109370416, 109371388, 109374948-109374955, 109378557-109378566, 109382700-109382706, 109382790, 109383052-109383065, 109383142-109383163, 109383250-109383274, 109383295-109383321, 109383338-109383360, 109383991-109384010, 109384167, 109384442-109384472, 109384505-109384511, 109384564, 109384628-109384677
487MERTK20.98833333333333353000112656313-112656346, 112656370
488PAX820.980044345898271353113993001-113993011, 113994201-113994216
489GLI220.803192606595259374761121555024-121555026, 121708948-121708966, 121708998-121709012, 121709016-121709021, 121728142-121728182, 121729574, 121745794, 121745839, 121745878-121745904, 121745912-121745928, 121745981-121746036, 121746054, 121746083, 121746087-121746108, 121746140-121746187, 121746193-121746230, 121746241-121746357, 121746373-121746420, 121746446-121746481, 121746498-121746573, 121746584-121746619, 121746634, 121746689-121746738, 121746788-121746834, 121746861, 121746877, 121746956, 121746972, 121746993-121747028, 121747048-121747071, 121747126, 121747129, 121747158, 121747174, 121747185, 121747243, 121747249, 121747313-121747342, 121747370-121747416, 121747419, 121747456-121747476, 121747482-121747497, 121747537-121747542, 121747550-121747556, 121747642-121747643, 121747668, 121747672, 121747685-121747703, 121747739-121747740, 121747917-121747920, 121747925
490BIN120.95903479236813731782127808407, 127808752, 127811581-127811588, 127815107, 127825808-127825831, 127827631-127827632, 127827635-127827638, 127828338-127828342, 127834265-127834271, 127864487-127864493, 127864507-127864519
491PROC20.94588744588745751386128178903, 128178937-128178950, 128180680-128180684, 128180693-128180741, 128186095-128186099, 128186246
492CFC120.60714285714286264672131279064, 131279067-131279068, 131279079, 131279386-131279419, 131279670-131279671, 131279681, 131279688, 131280363-131280416, 131280429-131280468, 131280746, 131280751, 131280796-131280834, 131280845-131280851, 131285304-131285341, 131285375-131285416
493RAB3GAP120.9996605566870312946135888126
494NEB20.998247722038653519974152403955, 152432795, 152432813-152432845
495ITGA620.98748473748474413276173292517-173292518, 173292520-173292557, 173292694
496HOXD1320.878875968992251251032176957619-176957633, 176957636, 176957673, 176957676-176957684, 176957689, 176957702-176957755, 176957789-176957791, 176957798-176957803, 176957814-176957818, 176957820-176957822, 176957826-176957842, 176958109-176958115, 176958204-176958206
497AGPS20.9838138593829321977178257587-178257618
498PRKRA20.9734607218683725942179315693-179315703, 179315722-179315735
499DFNB5920.98961284230406111059179318140-179318141, 179318318-179318325, 179319246
500TTN20.9998902721251311100248179442345, 179442348-179442349, 179514901, 179514905, 179514908, 179644022-179644026
501CERKL20.9987492182614121599182468778-182468779
502HSPD120.9994192799070811722198351859
503BMPR220.99358357394931203117203242254-203242273
504NDUFS120.99175824175824182184207017213, 207018354, 207018357-207018372
505FASTKD220.9995311767463712133207631596
506PNKD20.9965457685664941158219204601, 219204612, 219209557-219209558
507BCS1L20.9992063492063511260219525952
508CYP27A120.9956140350877271596219646926-219646932
509WNT10A20.95055821371611621254219745746-219745777, 219757562-219757564, 219757572, 219757603-219757605, 219757608-219757610, 219757708-219757717, 219757776-219757777, 219757781, 219757784, 219757816, 219757874-219757877, 219757947
510DES20.96107572540694551413220283241, 220283255-220283280, 220283301, 220283634-220283636, 220283657, 220283661-220283663, 220283669, 220283702-220283720
511OBSL120.895624670532425945691220416288-220416302, 220416430-220416442, 220416448, 220416454, 220416469-220416475, 220416841, 220417260, 220417264-220417270, 220417302-220417304, 220417318-220417345, 220417366-220417407, 220417590-220417591, 220417629-220417664, 220417672, 220417703-220417746, 220432929-220432933, 220435237-220435245, 220435308-220435310, 220435385-220435389, 220435395-220435400, 220435515-220435564, 220435571-220435614, 220435623, 220435632-220435677, 220435687-220435818, 220435843, 220435846-220435851, 220435871-220435954
512PAX320.9973649538866941518223163264-223163267
513CHRND20.96267696267696581554233390926-233390968, 233394664, 233394668, 233394671, 233394713-233394719, 233394793, 233396084, 233396276-233396278
514CHRNG20.996782496782551554233405318, 233409237-233409240
515COL6A320.9996853366897439534238249095-238249097
516AGXT20.860050890585241651179241808283-241808286, 241808295, 241808299-241808319, 241808342, 241808345-241808349, 241808353, 241808377, 241808392-241808430, 241808619-241808621, 241808633-241808636, 241808646-241808664, 241808695, 241808708, 241808748, 241810061-241810065, 241810081-241810083, 241810115-241810125, 241810777, 241810795, 241810865-241810866, 241812451, 241813409, 241815368-241815381, 241816968-241816973, 241816984-241817000, 241817440
517D2HGDH20.82503192848022741566242674640-242674647, 242674741, 242689592-242689638, 242689665-242689667, 242689697, 242689707-242689709, 242690749-242690785, 242695266, 242695380-242695418, 242707127-242707129, 242707170-242707171, 242707175-242707178, 242707182-242707186, 242707219-242707232, 242707246-242707256, 242707259, 242707262-242707264, 242707272, 242707287-242707336, 242707345-242707384
518AVP200.458585858585862684953063276-3063279, 3063308-3063409, 3063415-3063448, 3063623-3063653, 3063662-3063698, 3063730-3063733, 3063736-3063745, 3063749, 3063752-3063759, 3063770, 3063773-3063792, 3063809-3063824
519PANK2200.8978400467016917517133869784-3869806, 3869983-3870009, 3870100, 3870105-3870113, 3870131-3870152, 3870162-3870165, 3870185-3870187, 3870211-3870296
520JAG1200.9805851791085671365710653450-10653451, 10653504-10653509, 10653512, 10653526-10653527, 10653548-10653551, 10653559-10653562, 10653598-10653620, 10653642-10653654, 10654158-10654159, 10654165-10654178
521C20orf7200.99903660886321103813765922
522THBD200.997106481481485172823029584-23029586, 23029591, 23029912
523SNTA1200.8129117259552284151832000102, 32000213-32000232, 32000387, 32000416, 32000419, 32000429-32000434, 32000437, 32000586, 32031117-32031137, 32031144-32031222, 32031231-32031232, 32031251-32031268, 32031295-32031426
524GDF5200.9661354581673351150634021786-34021792, 34022282-34022288, 34025116-34025138, 34025151-34025163, 34025194
525SAMHD1200.997873471557684188135526916-35526919
526HNF4A200.9368421052631690142543030063-43030070, 43052761-43052783, 43052792-43052797, 43052807, 43052818, 43052827-43052831, 43052849-43052894
527ADA200.9826007326007319109243255140, 43255143-43255144, 43255153-43255155, 43280236-43280248
528CTSA200.9425517702070886149744519976-44519991, 44520213-44520269, 44520561-44520566, 44526375-44526381
529CD40200.99880095923261183444757589
530SALL4200.9962049335863412316250406608-50406611, 50408344, 50408351, 50418865, 50418868-50418872
531GNAS200.6788617886178923773857415162-57415184, 57415188-57415195, 57415241-57415287, 57415331-57415360, 57415382-57415390, 57415413-57415435, 57415517-57415524, 57415547-57415582, 57415591-57415625, 57415774-57415787, 57415834, 57415895-57415897
532GNAS200.82241490044958553311457428454-57428461, 57428634-57428637, 57428715-57428721, 57428950, 57428954-57428965, 57429061-57429091, 57429101-57429103, 57429115-57429120, 57429125, 57429128, 57429195-57429232, 57429253-57429282, 57429302-57429309, 57429415-57429436, 57429458-57429477, 57429490-57429495, 57429508-57429529, 57429547-57429550, 57429596-57429614, 57429625-57429695, 57429726-57429770, 57429790-57429813, 57429908-57429942, 57429945-57429949, 57429997-57430003, 57430043-57430072, 57430131-57430148, 57430216-57430250, 57430307-57430333, 57430376-57430388
533EDN3200.976290097629011771757875870-57875886
534COL9A3200.54598540145985933205561448417-61448494, 61448919-61448987, 61449870-61449891, 61450574-61450588, 61450600-61450645, 61451281-61451333, 61452533-61452542, 61453109-61453162, 61453463-61453472, 61453476, 61453492, 61453498-61453516, 61453960-61453984, 61455797-61455824, 61455842-61455853, 61456320-61456373, 61457169-61457222, 61457556-61457567, 61457582-61457608, 61458119-61458172, 61458593-61458634, 61459296-61459328, 61460124, 61460147, 61460279, 61460296, 61460310, 61460844-61460851, 61460980-61460983, 61461014, 61461118, 61461163-61461170, 61461712-61461757, 61461869-61461931, 61463514-61463521, 61464389-61464398, 61467612-61467633, 61467841, 61468510, 61468571, 61468598, 61468601-61468603, 61470077-61470087, 61471917-61471919, 61471967-61471982, 61471989
535CHRNA4200.0918259023354571711188461978090-61978130, 61978136-61978215, 61981005-61981081, 61981092-61981794, 61981803-61981806, 61981817, 61981820, 61981852-61981965, 61981973-61981995, 61981999, 61982028-61982065, 61982079, 61982085, 61982089-61982219, 61982230-61982254, 61982274-61982332, 61982344-61982364, 61982373-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
536KCNQ2200.172203130966022168261962037997-62038662, 62038680-62038728, 62039766-62039889, 62044803-62044812, 62044849-62044885, 62045441-62045482, 62045527-62045546, 62046268, 62046271-62046281, 62046294-62046431, 62046438-62046443, 62046475-62046479, 62050983-62051009, 62055536-62055539, 62059723-62059788, 62062693-62062694, 62062720-62062721, 62065162-62065171, 62065178-62065253, 62069978-62069991, 62069998-62070010, 62070033-62070042, 62070052-62070053, 62070070-62070073, 62070951-62071061, 62073761-62073792, 62073799-62073860, 62076012-62076187, 62076591-62076593, 62076613-62076717, 62078100-62078109, 62078128-62078129, 62078133, 62078136-62078151, 62078156, 62078164-62078166, 62078175-62078185, 62103521-62103816
537SOX182001155115562679519-62680315, 62680512-62680869
538APP210.9796800691742347231327542892-27542938
539IFNGR2210.9260355029585875101434775850-34775922, 34793841, 34793931
540RCAN1210.8563899868247710975935987188-35987216, 35987225-35987238, 35987244-35987309
541RUNX1210.9930699930699910144336164455-36164464
542CLDN14210.981944444444441372037833321-37833325, 37833542-37833543, 37833673, 37833702, 37833731, 37833968-37833969, 37833986
543TMPRSS3210.9575091575091658136543795862-43795898, 43795963, 43795966-43795977, 43796659-43796661, 43803278-43803282
544CBS210.80978260869565315165644474071, 44474078-44474081, 44474083-44474093, 44476913-44476916, 44476924-44476925, 44476951-44476969, 44478275-44478307, 44478319, 44478344, 44478944-44478964, 44478969-44479011, 44479067-44479078, 44479336-44479342, 44479353-44479381, 44480604-44480625, 44483129-44483152, 44484032, 44485798, 44485801-44485805, 44492160-44492188, 44492194-44492202, 44492260-44492295
545CSTB210.845117845117854629745196100-45196115, 45196117-45196146
546AIRE210.0866910866910871496163845705890-45706021, 45706440-45706551, 45706567-45706614, 45706861-45706897, 45706903-45706924, 45706941-45706990, 45707014-45707016, 45707400-45707474, 45708228-45708239, 45708256-45708308, 45708312-45708341, 45709540-45709548, 45709566-45709651, 45709658-45709685, 45709871-45709903, 45709916-45709951, 45710978-45711093, 45712198-45712221, 45712227-45712284, 45712876-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717590, 45717602-45717610
547ITGB2210.92294372294372178231046308638-46308711, 46308722-46308728, 46308733, 46308773, 46309289, 46309338-46309348, 46309364-46309366, 46309931-46309947, 46309973-46309975, 46310018-46310019, 46311738-46311744, 46311748-46311762, 46311821-46311828, 46313340, 46313375-46313377, 46313395, 46313442, 46320371-46320380, 46326838-46326842, 46330263-46330269
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674TUBB2B60.9073243647234712413383225044-3225054, 3225190, 3225211-3225250, 3225263-3225275, 3225325-3225327, 3225438-3225472, 3225493, 3225569-3225583, 3225624-3225626, 3225928, 3227724
675DSP60.99953574744661486167583752-7583755
676ATXN160.95138888888889119244816327421-16327427, 16327541, 16327577, 16327667, 16327817, 16327822, 16327853-16327959
677NHLRC160.995791245791255118818122406-18122408, 18122411, 18122799
678ALDH5A160.9896782027929617164724495391-24495406, 24515448
679HLA-H60.50437275029855764-29855783, 29855789-29855829, 29855834, 29855842, 29855852-29855878, 29855898, 29855901-29855909, 29855927, 29855930-29855935, 29855939-29855945, 29855983-29856001, 29856244-29856409, 29856415-29856427, 29856439, 29856451-29856472, 29856534, 29856543, 29856546, 29856550, 29856554-29856555, 29856565, 29856584-29856586, 29856589-29856596, 29856611, 29856633, 29856643, 29856679, 29856686, 29856693, 29856696-29856697, 29856711, 29856714, 29856717-29856718, 29856743-29856749
680NEU160.9391025641025676124831827947, 31827950-31827953, 31829837-31829852, 31830400-31830448, 31830504-31830509
681CFB60.998421468034736380131911912-31911917
682TNXB60.79056505961638404192931976405-31976406, 31976409-31976414, 31976896-31976929, 31977055, 31977086-31977117, 31977364-31977394, 31977768-31977790, 31977995-31978001, 31978274, 31978491-31978535, 31978947-31978968, 31979342-31979378, 31979417-31979464, 31979470-31979513, 31979569, 31979596, 31979623-31979639, 31979960-31980003, 31980071-31980077, 31980123
683CYP21A260.8239247311828262148832006208-32006264, 32006317, 32006871-32006889, 32006926-32006928, 32006965, 32006969, 32006976, 32007174-32007216, 32007357, 32007579, 32007584-32007587, 32007593, 32008191-32008201, 32008265, 32008361, 32008446-32008461, 32008522-32008531, 32008677-32008701, 32008718-32008763, 32008859-32008877
684TNXB60.943357687171037211272932009139-32009150, 32009221-32009223, 32009639-32009668, 32009789-32009793, 32009814-32009831, 32009918-32009950, 32010099-32010139, 32010244-32010289, 32010303, 32010363, 32010482-32010508, 32010517, 32010521, 32010729-32010736, 32011081-32011082, 32011217-32011251, 32011526-32011537, 32011550, 32011793-32011829, 32012196-32012232, 32012279-32012282, 32012295-32012336, 32012415-32012418, 32012423-32012427, 32012450, 32012472-32012493, 32012814-32012820, 32012977, 32013011, 32013998-32014018, 32014066-32014069, 32014224, 32015531-32015532, 32015595, 32023631-32023633, 32023645-32023646, 32023681, 32023691-32023711, 32023753, 32023756, 32023773, 32023784, 32023855-32023882, 32024508-32024529, 32024672-32024676, 32025838-32025871, 32025880-32025881, 32025894, 32025897-32025899, 32026053, 32026065-32026076, 32026079-32026083, 32026107, 32029197-32029201, 32029246-32029263, 32029347-32029354, 32029415, 32029428-32029443, 32029950-32029978, 32032630, 32035467-32035474, 32037453-32037460, 32064164, 32064304-32064311, 32064446-32064448, 32064513, 32064645, 32064808
685HLA-DQA160.927083333333335676832609965, 32610387-32610406, 32610492-32610516, 32610532-32610541
686HLA-DQB160.8575063613231611278632629124-32629173, 32629224-32629234, 32632578-32632602, 32632605-32632608, 32632693-32632709, 32632741, 32632744, 32632754, 32632781-32632782
687COL11A260.9965457685664918521133138125-33138135, 33143375-33143376, 33143382-33143386
688SYNGAP160.9749503968254101403233388042-33388108, 33393620-33393632, 33411549, 33411562, 33411629-33411646, 33411654
689FANCE60.9540657976412274161135420364-35420381, 35420384, 35420395-35420448, 35424019
690TULP160.9625537139349361162935473803-35473804, 35473906-35473913, 35473932, 35479514, 35479518-35479520, 35479563-35479583, 35479957-35479961, 35479983-35479991, 35479997-35479999, 35480043, 35480612-35480618
691MOCS160.77708006279435426191139881171-39881172, 39883875-39883876, 39883937-39883957, 39893422-39893589, 39895068-39895299, 39895317
692PRPH260.9836695485110517104142672162-42672173, 42672209-42672213
693PEX660.9830105334692550294342935238-42935250, 42946430, 42946453-42946457, 42946469-42946476, 42946636-42946658
694RSPH960.8363417569193713683143612843-43612863, 43612874-43612945, 43612990-43613009, 43613028-43613050
695RUNX260.93039591315453109156645390427-45390535
696MUT60.996449178872618225349403270-49403273, 49409576-49409578, 49409588
697EFHC160.996359854394187192352318957-52318963
698EYS60.999788023317442943565016974-65016975
699RIMS160.999409332545783507972892350, 72892382-72892383
700SLC17A560.9919354838709712148874345124-74345135
701NDUFAF460.99810606060606152897339149
702PDSS260.997531200107780270-107780272
703SEC6360.9991239597021522283108279165, 108279176
704OSTM160.9452736318408551005108395698, 108395719, 108395728-108395744, 108395795-108395814, 108395837-108395846, 108395850-108395855
705GJA160.98694516971279151149121768404, 121768680-121768686, 121768922-121768928
706ENPP160.9902807775378272778132129193, 132129211, 132129214, 132129280, 132129283, 132129290-132129291, 132129305-132129324
707PEX760.9557613168724343972137143857-137143873, 137143908-137143933
708EPM2A60.998995983935741996145956442
709SYNE160.99988633780405326394152644739-152644740, 152819924
710TBP60.97254901960784281020170871040, 170871043, 170871046, 170871049, 170871052, 170871062-170871072, 170871076, 170871079, 170871085, 170871129-170871137
711LFNG70.10877192982456101611402559496-2559927, 2564329-2564335, 2564351-2564368, 2564853-2564883, 2564889-2564952, 2565048-2565201, 2565319-2565328, 2565340-2565400, 2565878-2565914, 2565928-2565942, 2566010-2566043, 2566470-2566555, 2566780-2566846
712PMS270.9551950560061811625896013150-6013156, 6018235, 6018319-6018327, 6026513-6026517, 6026612-6026626, 6026829, 6026832-6026841, 6026956-6026991, 6029445-6029451, 6029454, 6042140-6042146, 6043413-6043423, 6048629, 6048633-6048637
713TWIST170.5155993431855529560919156551-19156568, 19156614-19156627, 19156645-19156662, 19156665-19156684, 19156690-19156691, 19156696, 19156702-19156704, 19156726-19156944
714HOXA170.9771825396825423100827135088-27135109, 27135314
715HOXA1370.65981148243359397116727239082-27239085, 27239109-27239119, 27239130, 27239146, 27239159, 27239182-27239247, 27239254-27239264, 27239267, 27239271-27239388, 27239407-27239427, 27239447-27239466, 27239469-27239470, 27239473-27239474, 27239497-27239623, 27239655-27239664, 27239677
716GHRHR70.996855345911954127231008486-31008489
717GLI370.96921779464474146474342004646-42004653, 42004880-42004916, 42005116-42005127, 42005179, 42005209-42005226, 42005249-42005260, 42005525-42005531, 42005541-42005542, 42005547, 42005553-42005561, 42005589-42005597, 42005628-42005640, 42005678-42005680, 42005837-42005849, 42005958
718PGAM270.977690288713911776244104599-44104604, 44104845, 44105006-44105015
719GCK70.89079229122056153140144184735-44184738, 44185110-44185113, 44185164-44185206, 44185306, 44186069-44186146, 44186205-44186217, 44191873-44191874, 44191880-44191887
720CCM270.72958801498127361133545039939-45039962, 45113086-45113109, 45113125-45113170, 45113869-45113945, 45113963-45114007, 45115376-45115406, 45115425-45115429, 45115456-45115476, 45115480-45115482, 45115490, 45115547-45115592, 45115619-45115656
721EGFR70.9779796311588280363355086971-55087050
722GUSB70.9642126789366170195665439398-65439405, 65439538-65439573, 65444416-65444418, 65444858-65444869, 65446973-65446977, 65446981, 65446986, 65447000-65447003
723ASL70.35483870967742900139565546910, 65546918-65546932, 65546969-65546984, 65547355-65547356, 65547379, 65547390, 65547400, 65547405-65547406, 65547410-65547417, 65547427, 65547432, 65548064-65548146, 65551604-65551649, 65551731-65551775, 65551794-65551808, 65552321-65552344, 65552368-65552373, 65552716-65552717, 65552730-65552778, 65553794-65553908, 65554078-65554162, 65554263-65554297, 65554308-65554322, 65554599-65554609, 65554615-65554643, 65554657-65554661, 65554671-65554682, 65556993-65557062, 65557544-65557650, 65557755-65557806, 65557828-65557854, 65557865, 65557878, 65557884-65557899
724KCTD770.8643678160919511887066094052-66094077, 66094088-66094178, 66094182
725NCF170.8242424242424214582572639746-72639761, 72639803-72639821, 72639957-72639996, 72640025-72640040, 72643630, 72643633, 72643645, 72643669, 72644230-72644236, 72644285, 72645872, 72645924-72645930, 72648717-72648750
726ELN70.86758620689655288217573442518-73442599, 73457338-73457360, 73457449, 73466080-73466097, 73466151-73466164, 73466169, 73466254-73466313, 73471984-73471989, 73471994, 73474242-73474248, 73474290, 73474350, 73475460-73475462, 73475467, 73477483-73477525, 73477641, 73477675-73477681, 73477693, 73477978, 73477991-73477992, 73478009, 73480274-73480286
727NCF170.81756180733163214117374193428-74193443, 74193488, 74193656-74193678, 74197310-74197312, 74197322, 74197369, 74197372-74197374, 74197388, 74199559, 74202397-74202432, 74202903-74202924, 74202944-74202946, 74202953-74202955, 74202971-74203022, 74203039, 74203383-74203395, 74203418-74203419, 74203422-74203427, 74203436, 74203441, 74203481-74203504
728POR70.384728340675481257204375608781-75608785, 75609657-75609686, 75609709-75609725, 75609762-75609788, 75610366-75610393, 75610425-75610464, 75610479-75610490, 75610835-75610898, 75611580-75611603, 75612849-75612894, 75612906-75612950, 75613056-75613118, 75613169-75613174, 75614095-75614096, 75614114-75614276, 75614376-75614525, 75614897-75615167, 75615241-75615381, 75615477-75615485, 75615496, 75615526-75615559, 75615668-75615669, 75615678-75615683, 75615710-75615721, 75615741-75615799
729HSPB170.6132686084142423961875932044-75932070, 75932098-75932132, 75932144-75932189, 75932194-75932211, 75932231-75932288, 75932303-75932314, 75932331-75932344, 75932350-75932353, 75933134-75933138, 75933163, 75933167-75933174, 75933178-75933182, 75933380, 75933446, 75933451-75933454
730AKAP970.9994882292732961172491714945-91714950
731PEX170.998442367601256385292157645-92157650
732SLC25A1370.997538158542595203195951264-95951268
733TFR270.99002493765586242406100238607-100238624, 100238629-100238631, 100238652, 100238695, 100238700
734SLC26A370.9991285403050122295107432368, 107432371
735CFTR70.974566734188611134443117188713-117188753, 117188760-117188800, 117188847-117188877
736IMPDH170.921111111111111421800128033061-128033064, 128034515-128034518, 128034963-128034969, 128038554, 128038557, 128045827-128045845, 128045855-128045858, 128045917-128045919, 128049823-128049868, 128049874-128049923, 128049937, 128049951, 128049954
737FLNC70.963193934947423018178128470692-128470699, 128470723-128470731, 128470733-128470756, 128470765-128470778, 128470781-128470848, 128470859, 128470886-128470936, 128471010-128471043, 128477243-128477246, 128477268-128477311, 128480100-128480101, 128480104, 128480888-128480901, 128481417, 128482748-128482752, 128482854, 128494110-128494115, 128494175-128494178, 128494511-128494512, 128498073-128498080
738ATP6V0A470.9964328180737292523138394506-138394507, 138437405-138437411
739BRAF70.98826597131682272301140624390-140624416
740PRSS170.9677419354838724744142459625-142459629, 142459863-142459878, 142460313, 142460335, 142460339
741KCNH270.830747126436785893480150642453-150642458, 150642502, 150642595, 150642599-150642602, 150644436-150644446, 150644450-150644471, 150644725-150644731, 150644761, 150644767, 150644770-150644776, 150644805-150644813, 150644859-150644894, 150648611, 150648619, 150648892, 150648913, 150648919, 150648923, 150649721, 150649727, 150649804, 150649817-150649821, 150655147-150655164, 150655170-150655173, 150655188-150655232, 150655239-150655285, 150655323, 150655377, 150655383, 150655467-150655565, 150655585-150655587, 150671801-150671829, 150671843-150671894, 150671902-150671904, 150671908, 150671915-150671937, 150671940-150671951, 150671973-150672026, 150674926-150675001
742PRKAG270.97543859649123421710151329161-151329163, 151329203-151329220, 151372568-151372579, 151573615-151573623
743SHH70.364290856731468831389155595594-155595670, 155595678-155596210, 155596228-155596234, 155596240-155596300, 155596311-155596354, 155596357-155596362, 155596374-155596376, 155596391, 155596399-155596405, 155596408, 155599043-155599062, 155599086-155599136, 155599179, 155599183, 155599203-155599218, 155599221, 155604764-155604816
744MNX170.437810945273636781206156798214-156798218, 156798238-156798270, 156798371-156798390, 156798397-156798424, 156798453-156798458, 156798485-156798492, 156799200-156799210, 156799256-156799277, 156802460-156802462, 156802465-156802467, 156802477-156802576, 156802589-156803027
745CLN880.98373983739837148611719446-1719448, 1719453-1719463
746GATA480.72987208427389359132911565840-11565861, 11565873-11565874, 11565885-11565909, 11565915-11565923, 11565950, 11565954, 11565979-11566020, 11566024-11566025, 11566029, 11566032-11566035, 11566042-11566056, 11566091-11566138, 11566154-11566196, 11566205-11566258, 11566264-11566267, 11566323-11566352, 11566355-11566357, 11566362, 11566372-11566423
747NEFL80.9822303921568629163224813404-24813432
748CHRNA280.995597484276737159027320599-27320605
749ANK180.996663154197419569441553925-41553932, 41559624-41559634
750THAP180.964174454828662364242698203-42698206, 42698211, 42698216-42698228, 42698233-42698237
751HGSNAT80.92505241090147143190842995640-42995757, 43014107-43014131
752RP180.9979910369340113647155537409-55537421
753TMEM7080.99489144316731478374888552, 74888568-74888569, 74888690
754CA280.956577266922093478386376311-86376344
755GDF680.9773391812865531136897157155-97157157, 97157162, 97157242-97157243, 97157246-97157248, 97157371, 97157410-97157415, 97157445, 97157498-97157502, 97157569-97157577
756KIAA019680.998563218390853480126091145, 126091150-126091152, 126094705
757KCNQ380.98167239404353482619133492431-133492439, 133492568-133492577, 133492587, 133492601-133492608, 133492712, 133492716-133492729, 133492757-133492761
758TG80.9990369567834488307133912566-133912568, 133913726-133913729, 133913736
759SLURP180312312143822561-143822694, 143823221-143823340, 143823746-143823803
760CYP11B180.97222222222222421512143958492-143958533
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803NOTCH190.07003129890453871317668139390523-139390609, 139390644-139390650, 139390655-139390656, 139390669-139390699, 139390727, 139390739, 139390744, 139390759, 139390768-139391019, 139391032-139391077, 139391091, 139391097-139391102, 139391106-139391177, 139391184, 139391195-139391417, 139391423-139392010, 139393366, 139393383-139393412, 139393422-139393448, 139393564-139393622, 139393634-139393678, 139393688, 139393694-139393698, 139395004-139395299, 139396200-139396233, 139396249-139396278, 139396302-139396364, 139396453-139396534, 139396540, 139396724-139396805, 139396813-139396824, 139396829, 139396832-139396834, 139396837, 139396848, 139396851-139396858, 139396865-139396867, 139396877-139396934, 139397638-139397728, 139397753-139397782, 139399125-139399496, 139399503-139399556, 139399762-139400333, 139400979-139401091, 139401168-139401364, 139401370-139401376, 139401380, 139401383, 139401413-139401425, 139401757-139401799, 139401817, 139401827-139401889, 139402407-139402481, 139402494-139402591, 139402684-139402837, 139403322-139403523, 139404190-139404343, 139404365-139404391, 139404395, 139404398-139404413, 139405105-139405257, 139405608-139405723, 139407473-139407586, 139407844-139407945, 139407964-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410481, 139410492-139410546, 139411724-139411837, 139412204-139412252, 139412258-139412389, 139412589-139412744, 139413043-139413117, 139413128-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438505, 139438516-139438554, 139440178-139440238
804AGPAT290.02389486260454817837139568204-139568379, 139569187-139569243, 139569252, 139571037-139571132, 139571413-139571501, 139571507-139571588, 139571875-139572008, 139581628-139581809
805SLC34A390.2177777777777814081800140126155-140126156, 140126524-140126528, 140126536-140126613, 140127027-140127095, 140127130-140127131, 140127149, 140127155, 140127265, 140127268-140127327, 140127372-140127374, 140127377-140127379, 140127459-140127496, 140127519, 140127532-140127533, 140127547-140127551, 140127562, 140127688-140127720, 140127724-140127772, 140127779-140127812, 140127843-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128970, 140128979-140128984, 140129075-140129101, 140129107-140129183, 140130404-140130856, 140130866-140130868
806EHMT190.795483705414427973897140513481-140513501, 140605430-140605482, 140611078-140611634, 140622801, 140622827-140622852, 140622876-140622898, 140622922-140622963, 140622970-140622981, 140638461, 140638516, 140669566-140669573, 140669658-140669661, 140671259, 140671269-140671273, 140674098, 140674101, 140707944, 140708930-140708955, 140728831, 140728939, 140728945-140728955
807SHOXX0.47326507394767463879591633-591909, 595353-595359, 595384-595415, 595421-595561, 605149-605154
808CSF2RAX0.4704980842911969113051401621-1401651, 1404671-1404725, 1404731-1404737, 1404749-1404806, 1407436, 1407652, 1407659-1407665, 1407691-1407733, 1409329-1409352, 1409384, 1409388-1409390, 1409396, 1413228-1413354, 1414320-1414322, 1414343-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422825, 1422846, 1422849-1422885, 1422906-1422912, 1424347-1424355, 1424401-1424420
809GPR143X0.981176470588242412759733696-9733698, 9733734-9733744, 9733804-9733806, 9733851-9733857
810PHKA2X0.998112189859767370818911709-18911710, 18911762, 18912326, 18912454-18912456
811RPS6KA3X0.9901034637876722222320284682-20284689, 20284723-20284736
812SMSX0.9600363306085444110121958943-21958947, 21958953-21958991
813ARXX0.90230905861456165168925031479-25031515, 25031525-25031593, 25031643-25031685, 25031777-25031779, 25031801, 25031886-25031897
814RPGRX0.74819311939867871345938144806-38144828, 38144969-38145013, 38145044-38145056, 38145192, 38145214-38145813, 38145828-38145899, 38145949-38145962, 38146019-38146033, 38146120-38146121, 38146359-38146363, 38146447-38146454, 38146498, 38147117-38147147, 38147213-38147245, 38147249-38147251, 38150212-38150215, 38158316
815TSPAN7X0.99866666666667175038420800
816BCORX0.998861047835996526839932054-39932059
817ATP6AP2X0.999050332383671105340440318
818NYXX0.46957123098202767144641332744-41332779, 41332790-41332791, 41332801-41332888, 41332941-41332981, 41333020-41333022, 41333033, 41333042-41333046, 41333050-41333056, 41333072-41333089, 41333097-41333102, 41333127-41333168, 41333194-41333502, 41333508-41333564, 41333606-41333612, 41333670-41333672, 41333710-41333724, 41333748, 41333752, 41333802-41333830, 41333840-41333859, 41333925, 41333928-41333967, 41333971, 41333989, 41333995, 41334025-41334028, 41334043-41334063, 41334082-41334088
819FTSJ1X0.9979797979798299048341123-48341124
820SYPX0.99787685774947294249047899, 49048138
821CACNA1FX0.9981462756993611593449061663, 49061736-49061737, 49062973-49062978, 49067118, 49068736
822FOXP3X0.996141975308645129649110503, 49110507, 49114797-49114799
823SMC1AX0.997839005942738370253410106, 53436019, 53436125-53436130
824FGD1X0.9788634788634861288654494245-54494256, 54497048, 54521735-54521782
825ARX0.9822656532754349276366765159-66765204, 66766357-66766359
826EDAX0.994897959183676117669247793-69247798
827MED12X0.9851545760636797653470360585-70360679, 70361100, 70361109
828NLGN3X0.999195818254932248770367835, 70368054
829TAF1X0.97588877155931137568270586165-70586166, 70586176, 70586188-70586261, 70586289-70586290, 70586333-70586344, 70678149-70678194
830SLC16A2X0.89847991313789187184273641355-73641419, 73641446-73641490, 73641645, 73641666-73641699, 73641719-73641754, 73641770-73641775
831BRWD3X0.997411721205414540980064940-80064953
832PCDH19X0.9773139745916575330699663186, 99663316-99663322, 99663408, 99663444-99663469, 99663556-99663595
833TIMM8AX0.9625850340136111294100603532-100603542
834CUL4BX0.99124726477024242742119694092, 119694346-119694368
835XIAPX0.9805890227577291494123020076-123020086, 123025123-123025133, 123040945-123040951
836GPC3X0.99368904188181111743133119341-133119351
837ZIC3X0.95655270655271611404136648985-136648987, 136649281, 136649284, 136649686, 136649690-136649692, 136651100-136651137, 136651208, 136651212-136651224
838SOX3X0.914243102162571151341139585947-139585952, 139586146-139586166, 139586177, 139586193-139586197, 139586431-139586476, 139586498-139586526, 139586691-139586697
839AFF2X0.9987296747967553936148044249-148044253
840NSDHLX0.97593582887701271122152036159-152036174, 152036178-152036180, 152036183, 152037386-152037392
841FAM58AX0.9170068027210961735152858069-152858082, 152864473-152864480, 152864483-152864521
842SLC6A8X0.526729559748439031908152954030-152954291, 152955830-152955831, 152955946-152955961, 152956775-152956796, 152956875-152956884, 152956921-152956964, 152956980-152957001, 152957469-152957506, 152957536-152957538, 152957552-152957555, 152958520-152958526, 152958546, 152958550-152958551, 152958572, 152958615-152958630, 152958720-152958724, 152958731, 152958917-152958939, 152958989-152959004, 152959360-152959378, 152959385-152959407, 152959470-152959472, 152959585-152959608, 152959614-152959664, 152959687-152959711, 152959801-152959822, 152959848-152959854, 152959875, 152959890, 152959988-152960007, 152960019, 152960045, 152960062-152960088, 152960174-152960299, 152960316-152960334, 152960342-152960344, 152960529-152960538, 152960588-152960611, 152960669
843ABCD1X0.4678284182305611912238152990722-152991132, 152991154-152991263, 152991278-152991305, 152991314-152991344, 152991369-152991509, 152991512-152991514, 152991530-152991538, 152991597-152991617, 153001637-153001692, 153001804-153001810, 153001858, 153001921-153001957, 153002611-153002626, 153002645-153002646, 153002674-153002695, 153005569-153005571, 153006137, 153006140, 153008466-153008486, 153008675-153008678, 153008695-153008740, 153008760-153008791, 153008943-153008987, 153009006-153009059, 153009083-153009123, 153009132-153009156, 153009162-153009184
844L1CAMX0.898251192368843843774153128214, 153128943, 153128995-153128996, 153129001-153129004, 153129393-153129397, 153129437-153129466, 153129929, 153130092-153130099, 153130353, 153130606-153130611, 153132252, 153133317, 153133323, 153133786-153133789, 153134356-153134369, 153134372, 153135029-153135054, 153135097-153135113, 153135118, 153135258-153135293, 153135352-153135358, 153135361, 153135366-153135382, 153135385, 153135512-153135556, 153135626-153135640, 153135674-153135695, 153135843-153135853, 153135884-153135910, 153136332-153136364, 153136512-153136527, 153136585-153136595, 153136611-153136613, 153136625-153136626, 153137607-153137616, 153141233, 153141243
845AVPR2X0.896057347670251161116153171025-153171029, 153171073-153171119, 153171255-153171268, 153171421-153171423, 153171473-153171492, 153171657, 153171687, 153171693, 153171710, 153171738-153171752, 153171775-153171777, 153172063, 153172080, 153172085-153172087
846MECP2X0.94321977287909851497153296115, 153296123, 153296127, 153297804-153297805, 153297810, 153297813-153297817, 153297862-153297873, 153363061-153363122
847OPN1LWX0.997260273972631095153421950, 153424291-153424292
848OPN1MWX0.95707762557078471095153453337-153453343, 153453477, 153453493, 153457286-153457310, 153458984-153458986, 153458989, 153459077-153459083, 153461421-153461422
849OPN1MWX0.95525114155251491095153490455-153490461, 153494404-153494428, 153496101-153496108, 153496195-153496201, 153498539-153498540
850FLNAX0.6680513595166226377944153577225-153577226, 153577257-153577296, 153577338, 153577373-153577404, 153577768, 153577798-153577849, 153577859-153577865, 153577879-153577892, 153577901, 153577906, 153577918-153577919, 153577926, 153578060, 153578110, 153578124-153578126, 153578162-153578194, 153578209, 153578212, 153578222-153578224, 153578234, 153578452-153578468, 153578518-153578519, 153578522, 153578557, 153578560, 153579294-153579318, 153579388, 153579949-153579979, 153580011, 153580252-153580255, 153580281-153580312, 153580375-153580377, 153580382-153580387, 153580554, 153580606-153580608, 153580619-153580627, 153580636, 153580656-153580708, 153580928, 153580952-153580954, 153581004-153581006, 153581017-153581019, 153581142-153581156, 153581187-153581194, 153581203, 153581265-153581269, 153581369-153581395, 153581427, 153581462-153581518, 153581557, 153581666-153581667, 153581682-153581688, 153581692-153581698, 153581727-153581799, 153581922-153581927, 153582045, 153582059-153582060, 153582392, 153582409-153582411, 153582550-153582575, 153582613, 153582624-153582659, 153582765-153582767, 153582842, 153582988-153582996, 153583032, 153583042, 153583051-153583079, 153583221-153583265, 153583286-153583292, 153583332-153583348, 153583354, 153583387-153583428, 153585619-153585634, 153585832-153585843, 153585862-153585864, 153585880-153585910, 153585928-153585942, 153586569-153586582, 153586606-153586627, 153586657, 153586813-153586822, 153586834-153586836, 153586841-153586843, 153586848-153586850, 153586856-153586858, 153586863, 153586872, 153586888-153586898, 153586921-153586936, 153587353-153587370, 153587376-153587377, 153587398, 153587448-153587450, 153587453-153587455, 153587504-153587506, 153587614-153587636, 153587657-153587675, 153587694, 153587711, 153587716-153587719, 153587852-153587860, 153587879-153587914, 153587935-153587948, 153587957-153587989, 153588002-153588014, 153588100-153588142, 153588166, 153588177-153588197, 153588205-153588234, 153588255-153588273, 153588362-153588417, 153588419, 153588430-153588434, 153588444-153588445, 153588469-153588475, 153588504-153588519, 153588540-153588567, 153588593-153588596, 153588600-153588601, 153588626-153588673, 153588771-153588788, 153588809-153588821, 153588831, 153588837, 153588846-153588861, 153588872-153588874, 153588887-153588915, 153588917-153588920, 153588954, 153589696, 153589739-153589792, 153589807-153589848, 153590080-153590106, 153590126, 153590398-153590411, 153590430-153590432, 153590437-153590440, 153590473-153590477, 153590489-153590516, 153590610-153590658, 153590698, 153590787-153590827, 153590842-153590860, 153590866-153590869, 153590895-153590929, 153590935-153590946, 153591032-153591033, 153591082-153591091, 153591128-153591130, 153592396-153592429, 153592496, 153592525-153592533, 153592627-153592629, 153592664-153592671, 153592678-153592691, 153592730, 153592897-153592936, 153593007-153593015, 153593019-153593021, 153593045, 153593189-153593219, 153593268, 153593504-153593507, 153593512-153593517, 153593538, 153593576-153593581, 153593589, 153593603-153593622, 153593627, 153593717-153593730, 153593765, 153593781-153593787, 153593798, 153593835-153593838, 153593851-153593854, 153594395-153594398, 153594461-153594470, 153594512-153594513, 153594522, 153594529, 153594554, 153594575-153594576, 153594681-153594682, 153594722, 153594729, 153594819-153594832, 153594835, 153594945-153594968, 153594974, 153595100-153595125, 153595765-153595780, 153595847-153595862, 153595891-153595899, 153596009-153596010, 153596021, 153596026-153596036, 153596085-153596090, 153596096, 153596210-153596224, 153596240-153596258, 153596286-153596316, 153596345, 153596350-153596367, 153596387, 153596445, 153596448-153596458, 153599274-153599304, 153599316-153599344, 153599360-153599405, 153599413-153599473, 153599483, 153599501-153599507, 153599514-153599532, 153599536-153599540, 153599548-153599599, 153599611-153599613
851EMDX0.69673202614379232765153607855-153607857, 153607870-153607873, 153607888-153607926, 153608050-153608139, 153608151-153608154, 153608302, 153608332, 153608373, 153608632-153608671, 153609429-153609474, 153609508-153609510
852TAZX0.8757921419518498789153640181-153640185, 153640191-153640199, 153640211-153640221, 153640253-153640257, 153640278-153640289, 153640443-153640449, 153640459-153640464, 153640511-153640545, 153640551, 153641830-153641836
853G6PDX0.884615384615381891638153760215-153760234, 153760255, 153760258, 153760261-153760269, 153760290, 153760295-153760305, 153760413-153760414, 153760472, 153760487-153760495, 153760604-153760637, 153760651, 153760656, 153760813, 153760884, 153760924, 153760938-153760939, 153761206-153761209, 153761214, 153761849-153761852, 153761876-153761884, 153762315-153762330, 153762553-153762557, 153762652-153762670, 153762693-153762708, 153763597, 153775068-153775085
854IKBKGX0.97609289617486351464153780283-153780286, 153780372-153780393, 153780398, 153788660-153788666, 153788750
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
2.5SCN9A-W1150Rhet unknown0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SCN9A-K655Rhet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
2ELAC2-S217Lhomozygous0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-V4128Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R3638Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125MYO7A-L16Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125MYO7A-R302Hhet unknown0.002Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.948 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125ATP6V0A4-M580Thet unknown0.098Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1SLC22A1-L160Fhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M420Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-G465Rhet unknown0.019Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
1COL2A1-G1405Shomozygous0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DDX55-V101Lhomozygous0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
1DDX55-N264Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNH2-K897Thomozygous0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC26A3-C307Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-P250Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1ALX4-P102Shomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TRIM6-TRIM34-D636Hhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-S631Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1XPC-A499Vhomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1XPC-R492Hhomozygous0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-R304*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TTN-E32484Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E10146EVLPEEEEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R328Chet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-A796Thomozygous0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-R29HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027052-T53ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-Y63NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-P643Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-H688Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HLA-H-D29Ahomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-E63Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCSK9-G670Ehet unknown0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CD46-A353Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1AMPD1-K287Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OPN1LW-L153Mhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-S180Ahet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ASPM-L3132Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ASPM-K2712Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG6-Y131Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BZRAP1-G1830Ehet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.204 (possibly damaging)
0.5BZRAP1-H1728Rhet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BZRAP1-L1431Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BZRAP1-A586Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BZRAP1-Q514Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC4A1-D38Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COG1-Q301Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COG1-T350Mhet unknown0.007Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.978 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCSK4-T267Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-H1235Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-P496Lhet unknown0.016Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
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
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-A2036Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-D1607Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-L1292Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G632Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G626Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-M1Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5KIAA0100-V1516Ghomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KIAA0100-H137Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH11-V1296Ahet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-TK871KQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF151-V66Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH2-Q65Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH2-P1500Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DNAH2-T3600Ihet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5SYDE2-Q175Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYOCD-Q647Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSR1-H750Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5TSR1-S386Ghet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AARS-T562Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-E540EKKEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG7-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
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPAMD8-T1315Ihet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-H593Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-D586Ehet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Qhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.814 (possibly damaging)
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-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-I2070Thet unknown0.137Unknown
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
0.5SLC4A5-V1106Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
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-K1491Rhomozygous0.223Unknown
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
0.5TTC27-R165Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TTC27-Y476Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5TEKT4-E321Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEKT4-H322Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5RGPD4-Q1169Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ANGPTL7-Q175Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPD1-G563Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2CR11-C1039Ghomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2CR11-P460Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ALS2CR11-H376Qhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-N2632Dhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5LRP2-G669Dhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5TNFRSF1B-M196Rhomozygous0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5MERTK-R293Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-D5573Nhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13D-R2432Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5PRAMEF2-R33Shet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5FCGBP-R4909Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FCGBP-P4107Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-T1524Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.244 (possibly damaging)
0.5RSPO1-K162Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PAK4-R135Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.307 (possibly damaging)
0.5CNKSR1-P284Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CARD8-V43Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-Q302Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CROCC-A650Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R691Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.873 (probably damaging)
0.5CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-E381Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K383Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-E384Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5ZNF577-T375Ihet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5ZNF577-E373Khet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF577-R357Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF577-R346Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ZNF577-Y270Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZNF577-K246Ehomozygous0.472Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-Q233*het unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYH14-M161Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA21-P119Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ETFB-T245Mhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5SLC25A45-R285Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SLC25A45-M224Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V103Mhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably 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-A546Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM55B-V103Ahomozygous0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5HINFP-G450Ehet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5HINFP-A493Vhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC12-M468Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-E115Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MR1-R31Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5MR1-H39Rhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.922 (probably damaging)
0.5DYNC2H1-Q304Lhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.5DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-L1420Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-A99Shet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF678-C351Yhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZEB1-Q840Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
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
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PNLIPRP3-S179Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNLIPRP3-V381Ihomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNLIPRP3-R382Ghomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNPEP-K260Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5RNPEP-V579Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MKI67-K3217Ehet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-T3150Shet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-R3013Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MKI67-Q2904Rhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-S2793Nhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5MKI67-D2760Ghet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5MKI67-T2720Phet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MKI67-R2649Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.458 (possibly damaging)
0.5MKI67-P2608Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-D2579Vhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-N2363Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-R1876Qhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5MKI67-L854Vhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MKI67-R832Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-E497Dhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.5MKI67-N104Shet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA17-Y105Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIPA1L1-P56Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.679 (possibly damaging)
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5ACIN1-N20Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-G38GGhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhomozygous0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-R1521Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSHR-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
0.5CINP-N53Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TECPR2-V320Ihomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-Q981Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TEP1-E1253Ghet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1251Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PARP2-D235Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging)
0.5FAM186A-H2228Qhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-R2174*het unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM186A-H2166Yhet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-A1720Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM186A-A465Ghomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-K463Thomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-K187Qhet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5GRASP-V265Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRASP-G362Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging)
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5NPHS2-R229Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5CDKN1B-V109Ghomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-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-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FMO3-E158Khomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-E308Ghomozygous0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-G369Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SKA3-D335Ehet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ITGA7-R655Hhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA7-R279Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANKRD52-S1061Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLEKHG7-D99Ghet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-A120Fhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF451-P597Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-P301Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCHR2-R152Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNK5-K365Ihet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
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
0.5CUL7-L1488Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5AIM1-S252Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNA5-V207Mhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests
0.5DFNA5-P142Thomozygous0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-P1119Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5LAMA4-G1117Shet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-Y498Hhet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-A283Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-R154Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5DSE-T25Ihet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DSE-P34Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5DSE-V381Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-T8687Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.383Unknown
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-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC111-V102Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CCDC111-Q168Rhomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDHA-E72Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-Q65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMMR-R93Chet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HMMR-R333Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HMMR-V369Ahet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HMMR-A485Vhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5MRPL22-G154Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.982 (probably damaging)
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-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
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SVEP1-A2750Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-D2702Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SVEP1-L1648Vhomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhomozygous0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-M998Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SVEP1-Q581Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SVEP1-V507Ihet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5IKBKAP-I830Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5IFNK-W13Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNK-K133Ehomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRD3-K435Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.897 (probably damaging)
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5PGAM4-R86Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5PLXNA3-R350Qhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.604 (possibly damaging)
0.5SSX9-E38Shifthet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MXRA5-L2531Vhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MXRA5-G2000Shet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-P1665Shet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5MXRA5-G1394Dhet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-A1128Vhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MXRA5-P827Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5MXRA5-I824Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM9A-D80Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027444-W159Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OTC-Q270Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM154A-A422Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5RECQL4-E267Dhomozygous0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS1-S181Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-M183Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF212-H293Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ARMC10-R29Whet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WBSCR28-I14Nhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WBSCR28-W78Rhomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5WBSCR28-G137Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5STEAP4-R318Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5STEAP4-G75Dhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K2484Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABP1-T16Mhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5ABCB8-R304Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB8-G710Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBN-E185Qhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP11B2-V386Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-A1670Thomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRA1A-S154Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.793 (possibly damaging)
0.5MYOM2-V363Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), 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-T682Nhomozygous0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCM1-N159Shomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-M597Vhomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V35Lhomozygous0.227Unknown
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
0.5RETNLB-P20Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SIDT1-G3Shet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIDT1-Y602Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5IL17RE-A7Vhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging)
0.5GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-R109Whet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-P10Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC21A-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
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK057553-R31Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-C32Yhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G38Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTT-I1091Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA16-M526Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPATA16-A509Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5H1FX-I70Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5H1FX-S66*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ATR-V959Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATR-V316Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging)
0.5ATR-M211Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNPLA3-L43Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNPLA3-I148Mhomozygous0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A3-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-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPP-E37Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SAG-I76Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
0.5SAG-V403Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5MOGAT1-A280Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CRYGD-Y56*het unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A2643Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-K1754Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FARP2-R17Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CSF2RB-P603Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
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
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AASDH-A705Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AASDH-K368Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AASDH-P93Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5AASDH-I61Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MANBA-V828Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests
0.5MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP7B-T991Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SETX-P1464Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ITGA6-LLS16PLPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-D935Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SLC3A1-T189Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25ZFYVE27-A21Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZFYVE27-G138Vhet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR7B2-N918Khomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR7B2-V496Ihet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR7B2-W191Qhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR7B2-R146Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZBED4-K141Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZBED4-F143*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZBED4-I420Vhomozygous0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATRNL1-Q408Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATRNL1-S989Nhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-P19Qhet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R2212Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25GPRIN2-R5Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25GPRIN2-L39Vhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.25GPRIN2-R40Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25GPRIN2-V47Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.25GPRIN2-W91Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPRIN2-T100Phet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.161 (benign)
0.25GPRIN2-S104Ghet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPRIN2-G202Whet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.429 (possibly damaging)
0.25GPRIN2-A232Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPRIN2-E240EMREhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GPRIN2-R239Khet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.461 (possibly damaging)
0.25GPRIN2-R242Ghomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPRIN2-S328Chet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.25GPRIN2-V375Ahomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPRIN2-L400Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO10-S1663Thomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO10-S1226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO10-R324Whet unknown0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BC011779-Q186*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BC011779-E70Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC011779-L30PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC9A3-C799Rhomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC9A3-L669Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTTP-R46Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-D295Shifthet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP4B1-M332Ihet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R341Chet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R376Chet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UBA1-R447Hhet unknown0.124Unknown
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
0.25PLXNB3-T1517Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLXNB3-E1671Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANK2-V2369Ahet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEKHG4B-Q495Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLEKHG4B-R1146Ghomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTS13-MSQ446IAEhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTS13-MSQ446IAEhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDSN-N527Dhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N143Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25TRIM40-M100Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TRIM40-Y114Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25HSPA1L-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)
0.25FANCE-A502Thet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G102Rhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25RPAP1-E506Khet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.906 (probably damaging)
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
0.25MYOT-K74Qhomozygous0.985Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYOT-E149Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAML1-P772Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAML1-S1007Nhet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DOK3-E485Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DOK3-L478Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SYNE2-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-S2802Ghomozygous0.914Unknown
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-N3130Shet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), 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-N3982Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25LOXL1-R141Lhet unknown0.256Complex/Other
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25USP35-T655Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25USP35-A876Phomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MST1-V575Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SYN2-Y22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SYN2-A34PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SYN2-T60RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SYN2-A63PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SYN2-GA100APhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SYN2-T502Ahomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-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
0.25STEAP2-F17Chomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STEAP2-R456Qhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STEAP2-K462*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25STEAP2-M475Ihomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-H20Rhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S112Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-V135Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153YSIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-R165Chet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-E296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC28A1-R147Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK304151-S34Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-F47Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-V52Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1748Fhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q571Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-G185Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.263 (possibly damaging)
0CCR5-S185Shifthet unknown0.048Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Frameshift
0DYSF-I1419Shifthet 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)

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,711,109,094 bases (95.7% of callable positions, 89.7% of total positions)

Coding region coverage: 30,730,013 bases (92.5% of all genes, 93.7% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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