hu7C1178 - GET-Evidence variant report

Variant report for hu7C1178

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1ABCA4-G1961EHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00269567This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.1
2LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
3MYO1A-S797FModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.00474066Although reported to cause dominant, early-onset sensorineural hearing loss, this variant has been reported in the genome of an unaffected PGP participant.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5MTRR-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
6TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
7LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
8TP53-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
9SP110-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
10H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
11WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
12BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
13rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
14CASP10-V410ILowLikelyLikely protective

Dominant, Heterozygous
0.0474066Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).1
15NPC1-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
16IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
17LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
18MC4R-V103ILowUncertainUncertain protective

Unknown, Heterozygous
0.016174This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals. 1
19CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
20COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
21NEFL-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
22FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
23APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
24ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
25BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
26TYR-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
27PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
28PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
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
30MAPT-R370WLowUncertainUncertain benign

Unknown, Homozygous
0.155549Probably benign.1
31TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
32TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31242225 / 33212919 = 94.07%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3260019550342141376138955553-955753, 957581-957612, 957621-957728, 957739-957842, 970657-970704, 976045-976260, 976553-976631, 976638-976777, 976858-976929, 976944-976949, 976960, 976963-976980, 976990-976991, 977023-977024, 977029, 977068-977071, 977082, 977336, 977346-977356, 977376-977432, 977442-977447, 977452-977457, 977469-977470, 977474, 977482-977498, 977529, 978662-978729, 978744-978782, 978794, 978799, 978805-978811, 978924-978934, 978953, 978957-978992, 979006-979075, 979096-979112, 979203-979210, 979251-979288, 979296-979333, 979348-979349, 979356-979397, 979489-979538, 979559, 979569, 979583-979590, 979631-979637, 979714-979754, 979770-979805, 980561, 980572-980574, 980579-980582, 980596-980620, 980636-980657, 980741-980777, 980795-980803, 980886, 980900-980903, 981140, 981207-981224, 981344-981348, 981355-981365, 981383, 981568-981614, 981644, 981777-981782, 981791, 981794-981833, 981836-981838, 981853-981855, 981859-981904, 981923, 981925-981955, 981984-982075, 982200-982228, 982231-982234, 982246-982251, 982255-982262, 982272-982335, 982707-982726, 982732-982772, 982779-982798, 982806-982834, 982953-982965, 982977-983002, 983007-983008, 983014, 983035-983042, 983050-983067, 983156-983159, 983170-983171, 983177, 983186-983208, 983232-983275, 983392-983438, 983447-983537, 983547-983745, 984247-984326, 984359-984439, 984621-984763, 984768-984770, 984781-984828, 984951-984978, 984994-985008, 985033-985073, 985092, 985106-985107, 985115-985151, 985160-985166, 985170, 985283-985285, 985306-985356, 985377-985395, 985405-985417, 985613-985624, 985638-985681, 985683, 985690-985709, 985809, 985812, 985823-985829, 985843-985846, 985854-985891, 985923, 985929, 986106-986161, 986189-986201, 986633-986656, 986666-986696, 986717, 986721-986749, 986833-986878, 986884-986922, 986929-986935, 986942-987009, 987019-987022, 987108, 987117, 987127-987195, 989133-989146, 989180-989182, 989186-989188, 989207-989247, 989286-989295, 989324-989353, 989828-989869, 989896-989909, 990204-990297, 990303-990304, 990317-990322, 990327, 990336-990337, 990348-990357
2GABRD10.13465783664459117613591950863-1950930, 1956381-1956414, 1956423-1956429, 1956452-1956493, 1956773-1956795, 1956805-1956840, 1956957-1957177, 1959016-1959084, 1959093-1959098, 1959594-1959642, 1959682-1959723, 1960550-1960560, 1960565, 1960574-1960609, 1960622-1960641, 1960673-1960674, 1960677-1960705, 1960990-1961201, 1961422-1961541, 1961548-1961592, 1961619-1961721
3PEX1010.723751274209992719812337239-2337249, 2337923-2337985, 2338178-2338186, 2338204, 2338255-2338276, 2338295, 2339997-2340037, 2340183-2340190, 2340233-2340235, 2343830-2343941
4NPHP410.9544498948843719542815925256-5925266, 5925302-5925303, 5934993-5935000, 5935144-5935159, 5947454-5947460, 5950943-5950944, 6038330-6038473, 6046233, 6046304-6046307
5ESPN10.6701754385964984625656485016-6485190, 6485204-6485309, 6488296-6488336, 6488372-6488393, 6488426-6488432, 6488461-6488479, 6500358-6500401, 6500422-6500428, 6500432, 6500449-6500489, 6500712, 6500722-6500731, 6500735, 6500754-6500802, 6500820-6500868, 6501020-6501065, 6505732-6505738, 6505776-6505798, 6505849-6505854, 6505888-6505937, 6508723-6508724, 6508821-6508834, 6508875-6508888, 6508922-6508928, 6509054-6509062, 6509139-6509151, 6511703-6511709, 6511907-6511942, 6512095-6512133
6PLEKHG510.9438695515835717931896527887, 6527894, 6528101-6528102, 6528239-6528240, 6528514, 6529704, 6529708, 6529715, 6530618-6530629, 6530827, 6530837-6530864, 6530935-6530944, 6531050-6531057, 6531061, 6531079-6531095, 6531105, 6531159-6531160, 6531855-6531856, 6532619, 6532628-6532630, 6532658-6532662, 6533407, 6533422, 6533427, 6534569-6534572, 6534575, 6534618-6534647, 6536047, 6537651, 6556584-6556613, 6556622-6556625, 6557380-6557383
7PEX1410.9188712522045992113410684439-10684453, 10689687-10689698, 10689771-10689783, 10689801-10689802, 10689838-10689864, 10690022-10690044
8TARDBP10.9469879518072366124511082322-11082362, 11082450-11082453, 11082519-11082538, 11082663
9MASP210.74284327996118530206111094885-11094914, 11094928, 11097772-11097773, 11097815, 11102943-11102945, 11102956-11102987, 11103015-11103019, 11103045-11103046, 11103396-11103466, 11103519-11103522, 11103545-11103592, 11105465-11105539, 11105570-11105596, 11106618, 11106637-11106674, 11106717, 11106720-11106742, 11106760-11106790, 11106949-11106958, 11106983-11106998, 11107014, 11107033-11107082, 11107110-11107156, 11107164-11107166, 11107174-11107176, 11107260-11107264
10MTHFR10.9868087265347526197111854099-11854104, 11861299-11861300, 11861312, 11862960-11862976
11PLOD110.9890109890109924218411994837-11994849, 11994902-11994908, 12026347-12026350
12CLCNKA10.80281007751938407206416353194-16353238, 16353858-16353864, 16354394, 16354598, 16354601, 16355625, 16355632-16355639, 16355732, 16356244, 16356460-16356494, 16356522-16356561, 16356956-16356958, 16356964-16357058, 16357091-16357123, 16357140-16357142, 16358229-16358233, 16358295-16358301, 16358306, 16358723-16358786, 16358938-16358939, 16358943-16358946, 16358998-16359005, 16360106-16360113, 16360121-16360153
13CLCNKB10.84593023255814318206416372144, 16374845-16374888, 16375718-16375740, 16377458-16377477, 16377506-16377507, 16378015-16378033, 16378210-16378217, 16378254-16378297, 16378696-16378708, 16378754-16378774, 16378778, 16378781-16378783, 16378796-16378801, 16378805, 16378808, 16378833-16378860, 16378881, 16380243, 16380248-16380267, 16381930-16381931, 16381963-16381967, 16381990-16382018, 16382235-16382236, 16382948-16382970
14ATP13A210.91109229466554315354317312727-17312757, 17312808, 17312975-17313023, 17313042-17313061, 17313103-17313122, 17313308-17313311, 17313323, 17313343, 17313345, 17313584-17313621, 17313637, 17313644-17313649, 17313654, 17313674-17313707, 17316201, 17318844, 17320272, 17322495-17322508, 17322607, 17322637, 17322649, 17323617, 17326510-17326543, 17326554-17326572, 17326617-17326632, 17326741-17326749, 17328539, 17338227-17338233
15ALDH4A110.994680851063839169219202931, 19203931-19203932, 19203983-19203984, 19204062, 19209673, 19209686, 19209808
16PINK110.9616265750286467174620960042-20960065, 20960254-20960260, 20960272-20960274, 20960288, 20960317-20960320, 20960349-20960373, 20975072-20975074
17HSPG210.984669095324832021317622149843-22149845, 22149906, 22149947-22149963, 22150169-22150175, 22154561, 22155505-22155508, 22155966-22155975, 22168597, 22178678, 22181155-22181156, 22181418, 22186102-22186106, 22186143-22186145, 22190684, 22199121-22199143, 22199499-22199501, 22199525-22199533, 22202133-22202150, 22207879-22207885, 22207991, 22211266, 22211373-22211381, 22211864-22211867, 22213969-22213973, 22217148, 22217151, 22263648-22263710
18WNT410.89393939393939112105622456120-22456153, 22456191, 22469339-22469415
19HMGCL10.99488752556237597824134721, 24134777, 24151883-24151885
20FUCA110.89293361884368150140124192002-24192006, 24194427-24194449, 24194471, 24194483, 24194502-24194514, 24194558-24194559, 24194628-24194642, 24194669-24194758
21LDLRAP110.988133764832791192725870264-25870274
22SEPN110.89028776978417183166826126722-26126904
23KCNQ410.88266283524904245208841249766-41249837, 41249844-41249903, 41249910-41249955, 41249959, 41249975, 41249983-41249988, 41249996-41250012, 41250031-41250040, 41250068-41250072, 41250077-41250079, 41284202-41284205, 41284239, 41284249-41284260, 41284288-41284291, 41284297, 41284300, 41285553
24CLDN1910.99703703703704267543201558-43201559
25LEPRE110.9923111714156517221143212402-43212407, 43232418-43232419, 43232424, 43232598-43232605
26POMGNT110.997982854261224198346662408, 46663450, 46663463, 46663468
27DHCR2410.998065764023213155155352782, 55352789-55352790
28PCSK910.95045695045695103207955505527-55505535, 55505553-55505558, 55505572-55505575, 55521693, 55521721-55521731, 55521735-55521738, 55521741-55521755, 55521766-55521800, 55521828, 55521831, 55521834, 55523010, 55524237, 55524264, 55524268-55524278, 55529217
29GSTM110.84170471841705104657110230496-110230531, 110230839, 110231296, 110231688-110231724, 110231915, 110231931, 110232905-110232917, 110233135-110233141, 110235885-110235891
30VANGL110.9949206349206381575116227959-116227961, 116228104-116228108
31NOTCH210.983549083063651227416120539668, 120539687, 120539691, 120539711, 120539913-120539939, 120548021-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611957-120611967, 120612006
32HFE210.999219359875111281145415753
33FLG10.935171508288279012186152276718, 152276726, 152276904-152276910, 152277238-152277270, 152277434-152277440, 152278406-152278437, 152279371-152279409, 152279747, 152279968-152279977, 152280017, 152280052-152280086, 152280159-152280160, 152280164, 152280168, 152280176-152280178, 152280271-152280277, 152280350-152280361, 152280515, 152280570-152280630, 152280806, 152280858, 152280931-152280932, 152281050-152281058, 152281145, 152281320, 152281325, 152281329, 152281403, 152281445-152281446, 152281519-152281528, 152281702, 152281748-152281749, 152281752, 152281755, 152281758, 152281770-152281771, 152281872-152281880, 152281945-152281947, 152281980, 152281990-152282011, 152282130-152282141, 152282262-152282304, 152282775, 152283103-152283113, 152283274, 152283390, 152283530, 152283533, 152283735, 152283739, 152283968-152283974, 152284069-152284081, 152284169-152284189, 152284213-152284249, 152284302-152284317, 152284371-152284377, 152284422-152284434, 152284493-152284521, 152284601-152284614, 152284652-152284683, 152284800, 152284915, 152284919, 152284981-152285027, 152285115-152285140, 152285176-152285222, 152285325, 152285490-152285496, 152285951-152285969, 152285975-152286005, 152286029-152286030, 152286162-152286177, 152286266
34CHRNB210.9993373094764711509154544401
35GBA10.9981378026070831611155207997, 155208005-155208006
36PKLR10.98202898550725311725155269977-155270007
37SEMA4A10.9969378827646572286156131140-156131143, 156131164, 156131169-156131170
38NTRK110.99163529903806202391156830727-156830729, 156830782-156830788, 156830834-156830843
39F510.99550561797753306675169510380, 169510499-169510527
40NPHS210.95659722222222501152179544746-179544752, 179544783-179544825
41CFH10.9883658008658433696196716353-196716395
42CFHR110.997985901309162993196801042, 196801078
43TNNT210.996621621621623888201338966-201338968
44PSEN210.9948032665181971347227071597-227071603
45ADCK310.911522633744861721944227152726, 227152802-227152818, 227152852-227152867, 227152883-227152904, 227152912-227152936, 227153032-227153061, 227153092-227153097, 227153417-227153433, 227153436-227153437, 227169773, 227169778, 227169785-227169787, 227169790, 227170683, 227170693-227170698, 227170701-227170706, 227170711-227170712, 227171311, 227171795-227171803, 227172964-227172968
46GJC210.301515151515159221320228345460-228345475, 228345494-228345505, 228345565-228345568, 228345571-228345575, 228345580, 228345599, 228345635-228345649, 228345660-228345692, 228345708, 228345716-228345722, 228345750-228345762, 228345774-228345833, 228345860-228345885, 228345913-228345926, 228345934, 228345944-228346164, 228346173-228346181, 228346201-228346233, 228346249-228346510, 228346527-228346579, 228346601-228346732, 228346777-228346779
47ACTA110.96913580246914351134229568044-229568054, 229568116-229568132, 229568162-229568168
48AGT10.98491083676269221458230845993-230846014
49RYR210.999060654857761414904237632463, 237729931, 237729970-237729974, 237730075, 237821275, 237821279, 237821289-237821292
50FH10.9947814742335381533241682958-241682965
51NET1100.99832495812395317915454700, 5454715-5454716
52PHYH100.993117010816137101713330489, 13341968-13341969, 13342023, 13342027-13342029
53PTF1A100.482269503546151198723481460-23481479, 23481516-23481537, 23481579-23481590, 23481600, 23481616-23481789, 23481798-23481925, 23481935-23481953, 23481972-23481995, 23482026-23482037, 23482042-23482047, 23482076-23482083, 23482097-23482168, 23482182-23482185, 23482194-23482199, 23482220-23482222
54RET100.9766816143497878334543572707-43572779, 43600595-43600599
55ERCC6100.9968763944667614448250740673-50740679, 50740822-50740828
56CHAT100.9919893190921218224750822348-50822359, 50822371-50822373, 50822379, 50822409-50822410
57EGR2100.99371069182399143164573487-64573489, 64573497-64573502
58NODAL100.999042145593871104472201292
59SLC29A3100.999299719887961142873079067
60CDH23100.98737072394591271005673439166-73439202, 73447404-73447416, 73447420, 73447466, 73461841, 73461907, 73464752-73464759, 73464765-73464766, 73464769-73464773, 73464813-73464815, 73464878, 73464881-73464882, 73464886-73464887, 73537523, 73550106-73550122, 73550149-73550160, 73551079-73551081, 73567290-73567292, 73571716, 73571719, 73572355-73572366
61PSAP100.9923809523809512157573579513-73579515, 73579569-73579575, 73591650-73591651
62VCL100.997944199706317340575758111-75758117
63LDB3100.996794871794877218488476399-88476405
64GLUD1100.9511031604054982167788836362-88836368, 88854369-88854390, 88854454-88854506
65PLCE1100.999276306267195690996076348, 96081784, 96081787-96081789
66HPS1100.99477682811016112106100177379-100177384, 100177416-100177418, 100177428-100177429
67FBXW4100.9983857949959621239103371140, 103371483
68HPS6100.934278350515461532328103825232-103825239, 103825277-103825299, 103825313-103825330, 103825388-103825394, 103825417, 103825421-103825422, 103825443-103825450, 103825482-103825516, 103825545, 103825774-103825778, 103825803-103825819, 103825951-103825952, 103826062-103826087
69SUFU100.9993127147766311455104357012
70CYP17A1100.9980353634577631527104592268-104592270
71COL17A1100.9986648865153564494105816893, 105816908, 105816911, 105816914-105816916
72EMX2100.992094861660086759119302935, 119302962-119302965, 119302968
73BAG3100.99074074074074161728121411188-121411203
74HTRA1100.742203742203743721443124221169-124221174, 124221182-124221321, 124221329-124221417, 124221424-124221458, 124221467-124221526, 124221553-124221582, 124221625-124221636
75ACADSB100.9984603541185521299124810701-124810702
76UROS100.9598997493734332798127477437-127477438, 127477445-127477471, 127477486-127477488
77HRAS110.6140350877193220570532636-532648, 532657-532696, 532706-532727, 532737-532747, 533468, 533471-533477, 533483, 533503-533505, 533510-533512, 533517-533522, 533528-533571, 533603-533605, 533782, 533785-533821, 533828-533830, 533867-533886, 533917-533918, 533944, 534281, 534289
78TALDO1110.878698224852071231014747482-747506, 747509-747511, 747552-747557, 747565-747573, 763344-763351, 763387-763401, 763408-763432, 763893-763924
79SLC25A22110.49588477366255490972791944-791963, 791972-791974, 791977-791983, 792018-792068, 792142-792144, 792160, 792173-792180, 792206-792217, 792304-792368, 792384, 792387-792388, 792396, 792399-792400, 792449-792454, 792553-792643, 792647-792658, 792661-792678, 792690, 792693, 792710, 792724-792727, 792870-792907, 792927-792988, 793564-793567, 793571, 793603-793619, 794776-794798, 794831, 794885-794901, 794990-795006
80PNPLA2110.582838283828386321515819719-819905, 821712-821747, 821801-821826, 822479-822504, 823535-823541, 823548, 823719-823755, 823787, 823809, 824002-824004, 824017-824039, 824062-824130, 824314-824322, 824328, 824333-824334, 824353-824367, 824370, 824405-824436, 824556, 824560, 824571-824586, 824589-824606, 824613-824615, 824624, 824642-824652, 824667-824672, 824678-824679, 824681, 824702, 824713-824754, 824764-824765, 824786-824810, 824838-824862
81CTSD110.6860371267150938912391774824-1774828, 1774833-1774862, 1775033-1775036, 1775071, 1775224-1775269, 1775277-1775297, 1775342-1775357, 1775366-1775367, 1778595-1778614, 1778760-1778762, 1778773-1778778, 1780199-1780230, 1780240-1780255, 1780262-1780265, 1780746-1780768, 1780781-1780803, 1780860-1780869, 1782540-1782544, 1782618, 1782645-1782697, 1785022-1785089
82TNNI2110.86703096539162735491861633-1861651, 1861771-1861787, 1861831-1861836, 1861842, 1861850, 1861860-1861874, 1862069-1862070, 1862091, 1862335, 1862713-1862720, 1862770-1862771
83TNNT3110.405405405405414627771944788, 1947938-1947939, 1950350-1950363, 1951057-1951058, 1954951-1954956, 1954980-1955067, 1955161-1955238, 1955562-1955567, 1955591-1955597, 1955631-1955675, 1955776-1955819, 1955834-1955880, 1956103-1956119, 1956141-1956149, 1958193-1958233, 1959668-1959722
84H19110.920634920634928510712017534-2017536, 2017539-2017540, 2017609, 2017643, 2017775, 2017808-2017846, 2018072-2018085, 2018097, 2018126, 2018147, 2018162-2018171, 2018251, 2018292, 2018336, 2018343-2018349, 2018443
85IGF2110.535864978902953307112154223-2154228, 2154236-2154241, 2154251, 2154253-2154254, 2154288-2154302, 2154306-2154310, 2154322-2154329, 2154338-2154436, 2154754, 2154790-2154826, 2154843-2154855, 2156627, 2156631-2156636, 2156640, 2156668-2156670, 2156678-2156682, 2156686-2156689, 2156695-2156714, 2156725, 2156740-2156747, 2161367-2161382, 2161398-2161399, 2161404, 2161408-2161426, 2161457-2161506
86TH110.2768253968254113915752185463-2185464, 2185480, 2185500, 2185518-2185571, 2185602, 2185609-2185622, 2186465, 2186475-2186546, 2186552-2186595, 2186898-2186940, 2186948-2186993, 2187247-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189102, 2189111, 2189115-2189163, 2189334-2189371, 2189728, 2189731-2189759, 2189767-2189831, 2189836-2189841, 2189852-2189855, 2189859, 2189892, 2190908-2190920, 2190966-2190994, 2191004, 2191007-2191009, 2191013-2191101, 2191920-2192000, 2192949-2192951
87KCNQ1110.7749876907927145720312466329-2466364, 2466386-2466614, 2466622-2466714, 2591946-2591967, 2591976-2591984, 2592614-2592633, 2593243, 2593280-2593301, 2593313-2593336, 2594149
88CDKN1C110.029442691903269239512905234-2905243, 2905257-2905327, 2905336-2905364, 2905900-2906712
89SMPD1110.99683544303797618966411931-6411936
90ABCC8110.991361146228441474617498274-17498314
91WT1110.83268983268983260155432449503-32449519, 32456306-32456325, 32456402-32456409, 32456481-32456526, 32456562, 32456583, 32456593, 32456615-32456654, 32456682-32456710, 32456717-32456768, 32456834, 32456839, 32456849-32456891
92ALX4110.9773462783171528123644286485-44286487, 44286608-44286611, 44331179-44331192, 44331223-44331229
93SLC35C1110.991477272727279105645827828-45827836
94PEX16110.9346781940441968104145931667, 45931673, 45935875, 45935962-45935966, 45935973, 45935982, 45937073, 45937369-45937383, 45939256-45939296, 45939317
95F2110.86730872124131248186946741282, 46741376-46741389, 46744730-46744743, 46744778, 46744789-46744807, 46744811, 46744814, 46744819, 46744981, 46744985, 46745008-46745056, 46747419-46747424, 46747462-46747479, 46747493-46747514, 46747573-46747575, 46747595, 46747663-46747665, 46748153, 46748158-46748162, 46749548, 46749571-46749596, 46749650-46749675, 46750355, 46750361, 46750372, 46750375, 46751040-46751051, 46751079-46751094, 46760600
96MADD110.9979773462783210494447306499-47306507, 47306521
97MYBPC3110.9968627450980412382547354488-47354493, 47372123-47372126, 47372862-47372863
98SLC39A13110.975806451612927111647433545-47433549, 47436426-47436447
99RAPSN110.998385794995962123947459542, 47459545
100BEST1110.99715585893065175861723210-61723214
101ROM1110.999053030303031105662381058
102BSCL2110.999280057595391138962472931
103SLC22A12110.823706377858293166264359135-64359162, 64359197-64359203, 64359303-64359305, 64359310, 64359353-64359399, 64360281, 64360299-64360306, 64360934-64360938, 64361223-64361230, 64365988-64366012, 64366062-64366069, 64366280-64366285, 64366290-64366291, 64366308-64366334, 64367163-64367196, 64367201-64367202, 64367209, 64367223-64367285, 64367308, 64367320, 64367325, 64367329, 64367355-64367362, 64367860-64367862, 64368276-64368277
104PYGM110.9837880585211541252964521024-64521039, 64521045-64521046, 64521086, 64521388, 64521429, 64521432, 64521756-64521758, 64527157-64527169, 64527302, 64527306-64527307
105MEN1110.9864718614718625184864572580-64572590, 64572595, 64572602, 64577526, 64577530-64577535, 64577557, 64577568-64577571
106EFEMP2110.9662162162162245133265635871-65635873, 65637620-65637646, 65639800-65639814
107CST6110.99555555555556245065780414-65780415
108SPTBN2110.94604767879548387717366467999, 66468005, 66468129-66468150, 66468183-66468188, 66468201, 66468210, 66468315-66468321, 66468393-66468407, 66468456-66468495, 66468533, 66468739-66468753, 66472225-66472226, 66472256-66472267, 66472271, 66472298, 66472417-66472418, 66472469-66472498, 66472531-66472544, 66472579-66472581, 66472622-66472630, 66472701, 66472712-66472736, 66472757-66472760, 66472857, 66472876, 66472892, 66472935-66472939, 66474998-66475042, 66475136, 66475170, 66475189-66475203, 66475242-66475262, 66475636-66475659, 66475696-66475727, 66475729-66475735, 66475752, 66478160, 66478180, 66478184, 66478217, 66481168, 66481793, 66483335-66483346
109PC110.89482612383376372353766616453-66616470, 66616807-66616813, 66617111, 66617136, 66617163-66617169, 66617318-66617320, 66617437-66617472, 66617582-66617584, 66617691, 66617702, 66617722, 66617790, 66617858, 66617863, 66618249-66618255, 66618266-66618301, 66618343-66618345, 66618356, 66618380-66618382, 66618394, 66618537, 66618605-66618607, 66618611-66618617, 66618649, 66619350, 66619914-66619946, 66620030-66620031, 66620046-66620114, 66620254, 66631262, 66631267, 66631333-66631348, 66633659-66633663, 66633667, 66633813-66633820, 66637797-66637805, 66638629-66638641, 66638844-66638849, 66638900-66638905, 66638949-66638951, 66639191-66639228, 66639500-66639513
110CABP4110.939613526570055082867222970, 67223089-67223090, 67223105, 67223187-67223188, 67223863, 67223885-67223901, 67223911, 67225912-67225936
111AIP110.5850956696878141299367254480, 67254542, 67254553, 67256768, 67256772-67256774, 67256813-67256815, 67256819-67256829, 67256849, 67256903-67256926, 67257521-67257564, 67257596, 67257601-67257616, 67257622-67257630, 67257658-67257685, 67257787-67257848, 67257855-67257893, 67257908-67257928, 67258259-67258325, 67258335, 67258338, 67258344-67258385, 67258391-67258402, 67258409-67258427, 67258434, 67258445-67258446, 67258455
112NDUFS8110.87835703001587763367799659, 67799667-67799674, 67799781-67799796, 67800413-67800422, 67800455-67800461, 67800659-67800688, 67803973-67803974, 67804010, 67804059-67804060
113TCIRG1110.76213397513037593249367808740-67808744, 67808823-67808826, 67808843-67808855, 67809235, 67809275, 67810146, 67810157, 67810175-67810230, 67810257-67810266, 67810286-67810287, 67810293-67810296, 67810299-67810301, 67810308-67810313, 67810418-67810462, 67810497-67810498, 67810838-67810864, 67810916-67810942, 67810959-67810964, 67811038-67811040, 67811063-67811069, 67811303-67811356, 67811631, 67811651-67811654, 67811660-67811663, 67811727-67811733, 67811757-67811789, 67811799-67811811, 67812555, 67814930-67814937, 67815244, 67815247, 67815252, 67815363, 67816380, 67816551-67816574, 67816584-67816587, 67816590-67816592, 67816629-67816633, 67816636, 67816670-67816681, 67816749, 67817130-67817248, 67817493, 67817531-67817532, 67817647-67817680, 67817694-67817721, 67817990, 67818057-67818058, 67818280, 67818284
114LRP5110.95771452145215205484868080183-68080273, 68131254, 68131375-68131390, 68171102-68171114, 68174083-68174091, 68177382, 68177385-68177386, 68181224-68181236, 68204365, 68204368, 68205959-68205962, 68206044, 68207357-68207361, 68207373-68207384, 68213944-68213950, 68216301, 68216306, 68216312, 68216318-68216321, 68216347-68216355, 68216415-68216418, 68216436, 68216467-68216468, 68216474-68216478
115CPT1A110.9892334194659825232268527699-68527712, 68527742-68527747, 68527750, 68552288, 68560823, 68562369, 68564398
116IGHMBP2110.9926224010731122298268671421, 68671456, 68671472-68671478, 68671482, 68671505, 68704530-68704540
117DHCR7110.9845938375350122142871146577, 71146645-71146662, 71146665-71146666, 71146691
118MYO7A110.722773766546331843664876853813, 76858844-76858847, 76858908-76858934, 76868025, 76869465, 76883829-76883835, 76883839-76883854, 76883870-76883893, 76885802-76885819, 76885844-76885861, 76885884-76885960, 76886420-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893518, 76893521, 76893534-76893586, 76893620-76893645, 76894113-76894202, 76895653-76895699, 76895715, 76895722-76895758, 76900389-76900443, 76900457-76900473, 76900504, 76901065-76901069, 76901075, 76901086-76901101, 76901140-76901162, 76901167, 76901184, 76901745, 76901748, 76901778-76901874, 76901900-76901915, 76903119-76903137, 76903158-76903186, 76903251-76903276, 76903283-76903302, 76909658-76909660
119MTMR2110.99637681159427193295657100-95657106
120APOA1110.8781094527363298804116706590-116706595, 116706632, 116706649, 116706653-116706663, 116706711, 116706722-116706758, 116706779-116706811, 116706925-116706928, 116707039-116707042
121FXYD2110.997716894977171438117693255
122CD3D110.998062015503881516118210593
123TECTA110.9998453209590116465120989192
124ROBO3110.99519346310983204161124735603-124735615, 124738929-124738935
125WNK1120.982375157364671267149862737-862743, 862839-862857, 862893-862945, 862984-862992, 863173-863180, 863257-863286
126CACNA2D4120.991212653778563034141902848, 1902901-1902903, 1906612-1906634, 1994234-1994236
127CACNA1C120.990855052583456065612676887, 2760874-2760875, 2794934-2794940, 2797828-2797857, 2797941-2797945, 2800295, 2800300-2800303, 2800306, 2800346-2800353, 2800356
128VWF120.991352760009487384426131926-6131932, 6131955-6131982, 6132003-6132033, 6167193-6167199
129TNFRSF1A120.99342105263158913686438608-6438616
130TPI1120.9906666666666777506976837-6976843
131ATN1120.99916036943745335737045892-7045894
132GYS2120.999526515151521211221712045
133KRAS120.99122807017544557025380283-25380287
134PKP2120.998408910103424251433049561-33049564
135COL2A1120.999327956989253446448377870, 48398067, 48398080
136MLL2120.972493078126884571661449425432-49425441, 49425787-49425798, 49425824-49425829, 49425837, 49426347-49426352, 49426651-49426665, 49426730-49426732, 49426742-49426743, 49426772-49426777, 49426849-49426852, 49426906-49426908, 49426912-49426918, 49427062-49427086, 49427144-49427153, 49427167-49427174, 49427211-49427223, 49427259-49427283, 49427296-49427319, 49427576-49427582, 49427627-49427638, 49427665-49427667, 49427733-49427740, 49430941, 49431000-49431001, 49431275-49431311, 49431488-49431537, 49431553, 49431577-49431605, 49431683-49431690, 49431700-49431706, 49431749-49431768, 49431822-49431860, 49431907-49431911, 49431914, 49432142-49432149, 49432220, 49432228, 49432481-49432498, 49433325, 49433369-49433376, 49433739, 49433746-49433752, 49434944, 49440573
137DHH120.997481108312343119149483847-49483849
138TUBA1A120.99780701754386145649522213
139AQP2120.99019607843137881650344618-50344621, 50344718, 50344937-50344938, 50348092
140KRT81120.92292490118577117151852684020-52684061, 52684898-52684899, 52684980, 52685055-52685076, 52685128-52685130, 52685133, 52685167-52685187, 52685204-52685209, 52685218, 52685223-52685233, 52685243-52685249
141KRT86120.9685147159479846146152696889-52696934
142KRT6B120.93864306784661104169552844240-52844268, 52845509-52845559, 52845598-52845604, 52845677-52845686, 52845798-52845804
143KRT6C120.9699115044247851169552865900-52865928, 52867187-52867193, 52867257-52867263, 52867324, 52867457-52867463
144KRT6A120.995870206489687169552886708-52886714
145CYP27B1120.998690242305172152758159795-58159796
146GNS120.9819168173598630165965152974-65152983, 65152988, 65152990, 65153011-65153028
147CEP290120.999596774193553744088472953-88472955
148UNG120.9373673036093459942109535485-109535493, 109535531, 109535554-109535590, 109536295, 109536393-109536394, 109547726-109547733, 109547736
149MMAB120.9774236387782217753109998850, 110011230, 110011241, 110011245, 110011256-110011258, 110011274-110011283
150TRPV4120.99617737003058102616110221572-110221575, 110226238, 110236563, 110238497, 110238517-110238518, 110246226
151ATXN2120.824961948249626903942112036588-112036838, 112036849-112037155, 112037162-112037197, 112037203-112037237, 112037258-112037318
152SDS120.994934143870315987113835104-113835106, 113836586, 113836595
153ACADS120.9927360774818491239121175790-121175791, 121176971-121176977
154HNF1A120.92141350210971491896121416606-121416609, 121416622-121416635, 121416858-121416859, 121432114-121432129, 121434191-121434201, 121435361-121435365, 121435390-121435400, 121437088-121437098, 121437310-121437315, 121437340-121437354, 121437396-121437402, 121438901-121438947
155HPD120.9991539763113411182122294278
156ATP6V0A2120.9984441851419742571124197160-124197163
157PUS1120.890965732087231401284132414270-132414296, 132414452-132414467, 132414477-132414501, 132414509-132414534, 132414604, 132414650-132414680, 132425980-132425983, 132425997, 132426008-132426009, 132426252, 132426268-132426273
158B3GALTL130.9612558450233858149731774222-31774230, 31774234-31774244, 31774254-31774291
159FREM2130.9982124079915917951039261566-39261570, 39261638-39261649
160RNASEH2B130.985090521831741493951484213-51484222, 51484239-51484242
161ZIC2130.722951844903064431599100634339-100634346, 100634386-100634410, 100634413, 100634421, 100634455, 100634463, 100634519-100634543, 100634569-100634602, 100634608-100634610, 100634682-100634783, 100634800, 100634805-100634842, 100634856, 100634866-100634868, 100635008-100635013, 100635061-100635066, 100637300-100637319, 100637625, 100637631-100637641, 100637644, 100637691-100637812, 100637819, 100637835-100637857, 100637860, 100637895-100637896, 100637900-100637904
162COL4A1130.99181636726547415010110959329-110959341, 110959347-110959374
163F7130.59400749063675421335113760156-113760164, 113760194-113760219, 113765004-113765018, 113765037-113765096, 113765111-113765152, 113769974-113770012, 113770019-113770061, 113770073-113770078, 113771137-113771139, 113771165-113771175, 113771791-113771793, 113771847-113771860, 113771905-113771910, 113772730-113772752, 113772780-113772859, 113772884-113772908, 113772935-113772946, 113772963-113772999, 113773027-113773051, 113773101-113773119, 113773178-113773180, 113773209, 113773220-113773240, 113773271-113773285, 113773319-113773322
164F10130.804362644853442871467113777170-113777184, 113777192-113777239, 113798225-113798233, 113798239-113798283, 113798340-113798379, 113803261-113803270, 113803304-113803320, 113803410-113803412, 113803489-113803497, 113803560-113803576, 113803599-113803633, 113803645, 113803652-113803673, 113803789-113803794, 113803801, 113803812-113803815, 113803819-113803823
165GRK1130.94267139479905971692114321765-114321769, 114321914, 114321920-114321956, 114322129-114322153, 114322198-114322204, 114324109, 114325869-114325875, 114325890, 114325928-114325934, 114426047-114426052
166TEP1140.998858447488589788420851771-20851774, 20851781-20851785
167PABPN1140.978284473398482092123790681-23790683, 23790891-23790902, 23791014-23791018
168MYH6140.9972508591065316582023858222-23858234, 23869543-23869545
169MYH7140.999827823691461580823894014
170NRL140.953781512605043371424550642-24550644, 24550655-24550662, 24550670-24550685, 24551814-24551819
171TINF2140.9926253687315610135624711485-24711486, 24711514-24711518, 24711524, 24711530-24711531
172TGM1140.9930725346373317245424724228-24724233, 24724306-24724309, 24724372, 24724435-24724440
173FOXG1140.82040816326531264147029236624-29236629, 29236637-29236647, 29236659-29236690, 29236710-29236777, 29236784-29236847, 29236853, 29236864-29236945
174COCH140.9933454325468811165331344270-31344277, 31344284, 31344289, 31344292
175NKX2-1140.9635157545605344120636986693-36986729, 36986832-36986833, 36988376-36988380
176MGAT2140.999255952380951134450088130
177C14orf104140.9669848846459883251450100376-50100378, 50100683, 50100809-50100817, 50100836-50100838, 50100844-50100845, 50100993-50100996, 50101090-50101130, 50101347-50101355, 50101365, 50101370, 50101461, 50101466, 50101846-50101852
178PYGL140.9941037735849115254451381434, 51410928-51410941
179GCH1140.944223107569724275355369215-55369256
180SIX1140.99883040935673185561115420
181VSX2140.9898710865561711108674706457-74706460, 74706471-74706477
182FLVCR2140.9911448450347914158176045512-76045525
183TGFB3140.991121872477811123976447000-76447010
184ESRRB140.9927963326784511152776957792, 76964692-76964701
185POMT2140.9121171770972198225377744797-77744803, 77745185-77745200, 77778320, 77786780, 77786783-77786796, 77786826-77786889, 77786899-77786940, 77786954, 77786962, 77786965, 77786969-77787018
186VIPAR140.998650472334682148277917646-77917647
187AMN140.02643171806167413261362103389029-103389061, 103390048-103390166, 103390272-103390297, 103394763-103394766, 103394774-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
188INF2140.1253333333333332803750105167703-105167725, 105167732-105167743, 105167747-105167752, 105167759-105168041, 105168049-105168093, 105169442-105169557, 105169632-105169695, 105169705-105169743, 105169750-105169791, 105170253-105170286, 105172372-105172429, 105172438, 105172441-105172472, 105172486-105172513, 105173247-105173268, 105173279-105173280, 105173288-105173311, 105173322-105173388, 105173590-105173648, 105173671-105173800, 105173806-105173837, 105173844-105174339, 105174773-105174788, 105174803-105174808, 105174818-105174821, 105174826, 105174829, 105174834-105174851, 105174871-105174924, 105175008-105175061, 105175618-105175644, 105175654, 105175671-105175693, 105175711-105175720, 105175971-105176042, 105176425-105176525, 105177274-105177344, 105177416-105177435, 105177447-105177523, 105177966-105177989, 105177999-105178036, 105178770-105178890, 105179165-105179329, 105179544-105179646, 105179782-105179874, 105179884, 105179887-105179942, 105180540-105180613, 105180621-105180668, 105180677-105180699, 105180724-105180745, 105180755-105180871, 105180907-105181001, 105181009-105181027, 105181030-105181035, 105181042-105181046, 105181049-105181087, 105181097-105181098, 105181101, 105181111-105181113, 105181131-105181159, 105181179-105181193, 105181636-105181645
189NIPA1150.8202020202020217899023086234-23086411
190UBE3A150.9916286149162922262825615777-25615783, 25616254, 25616620-25616626, 25616812-25616818
191IVD150.86104605776737178128140698020-40698172, 40699889-40699912, 40700160
192CHST14150.82935455349248193113140763413-40763543, 40763560, 40763564, 40763570-40763575, 40763596, 40763637, 40763676-40763702, 40763717-40763735, 40763809-40763813, 40763818
193CDAN1150.9728555917481100368443021794-43021796, 43022928, 43022931, 43028656-43028683, 43028708-43028710, 43028719-43028722, 43028725-43028730, 43028766-43028811, 43029270, 43029273-43029279
194TTBK2150.999732262382861373543103908
195STRC150.9947447447447428532843896303-43896312, 43900150-43900156, 43907745-43907751, 43910440, 43910867-43910869
196STRC150.996410256410267195044007207-44007213
197DUOX2150.99913922961054464745403584, 45403683-45403685
198GATM150.992924528301899127245670616-45670623, 45670630
199FBN1150.999651810584963861648760191-48760193
200CLN6150.931623931623936493668500486-68500491, 68521840-68521876, 68521886-68521887, 68521904-68521922
201HEXA150.9729559748427743159072668061-72668074, 72668129-72668132, 72668141, 72668149-72668150, 72668273-72668289, 72668304, 72668310-72668313
202HCN4150.84468438538206561361273614870-73614888, 73615063, 73615420-73615434, 73615902, 73616150, 73659888-73659920, 73659950, 73659960, 73659971-73659972, 73659978, 73659981-73659987, 73660022-73660035, 73660038-73660040, 73660060-73660064, 73660076-73660089, 73660103-73660140, 73660151-73660203, 73660218, 73660227-73660239, 73660261-73660538, 73660552-73660611
203PSTPIP1150.182254196642691023125177310489-77310589, 77310798-77310811, 77310820-77310822, 77310827-77310834, 77310839, 77310842-77310845, 77310858, 77310861-77310872, 77317630-77317659, 77317858-77317883, 77317900-77317920, 77320225-77320255, 77320895-77320913, 77320933-77320952, 77320961-77320993, 77321870-77321871, 77321894-77321915, 77322843-77322922, 77323521-77323529, 77323535-77323597, 77323607-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
204POLG150.9967741935483912372089876828-89876839
205MESP2150.69932998324958359119490319593-90319634, 90319656-90319703, 90319746-90319781, 90319787-90319806, 90319809-90319812, 90319843-90319891, 90319927-90319941, 90320065-90320067, 90320077, 90320118-90320154, 90320157-90320165, 90320169-90320180, 90320206-90320254, 90320393-90320406, 90320432-90320451
206IGF1R150.9887914230019546410499192854-99192899
207HBZ160.25407925407925320429202956-202998, 203891-203915, 203921-204095, 204271-204342, 204366, 204372-204374, 204388
208HBM160.9366197183098627426216326-216348, 216351, 216428, 216432, 216441
209HBA2160.56643356643357186429222912-222975, 222981-222999, 223128, 223135-223136, 223139-223146, 223167-223192, 223208, 223211, 223214-223222, 223225-223232, 223235, 223260-223262, 223278-223312, 223471-223478
210GNPTG160.855119825708061339181401967-1402018, 1402103-1402133, 1402143-1402150, 1402271-1402307, 1411744-1411748
211CLCN7160.44623655913978133924181496632-1496718, 1497017-1497087, 1497393-1497418, 1497439, 1497453, 1497456-1497520, 1497523-1497526, 1497532-1497538, 1497549-1497558, 1497569, 1497656-1497715, 1498356-1498433, 1498440-1498483, 1498702-1498712, 1498725-1498767, 1498967-1498978, 1498986-1499018, 1499027, 1499042-1499079, 1499085, 1499090-1499091, 1499277-1499313, 1499325-1499328, 1500498-1500521, 1500531, 1500558-1500667, 1501624-1501641, 1501647-1501708, 1502759-1502827, 1502835-1502894, 1503861-1503878, 1504417-1504435, 1505135-1505147, 1505166-1505191, 1505732-1505754, 1505785-1505796, 1506118-1506161, 1506181, 1506186-1506207, 1507716, 1509137-1509182, 1515314-1515321, 1524835-1524939, 1524956-1524975
212IGFALS160.11128364389234171719321840601-1840696, 1840714, 1840717-1840721, 1840743-1840775, 1840785-1841141, 1841152-1841194, 1841205-1841244, 1841258-1841464, 1841487-1841525, 1841543-1841779, 1841788-1842109, 1842140-1842227, 1842239-1842291, 1842296-1842335, 1842358-1842478, 1842498-1842516, 1843638-1843653
213GFER160.257281553398064596182034220-2034477, 2034754-2034809, 2034823-2034873, 2034901-2034913, 2034917-2034922, 2035867-2035888, 2035905, 2035908, 2035915-2035929, 2035932-2035942, 2035954-2035957, 2035966-2035975, 2035988-2035991, 2035998-2036004
214TSC2160.30199115044248378654242098617-2098625, 2098661-2098664, 2098696-2098726, 2098739-2098754, 2103343-2103453, 2104393-2104416, 2106227-2106232, 2108748-2108773, 2108795-2108799, 2108803-2108814, 2108824, 2110671-2110675, 2110684-2110690, 2110765-2110808, 2111875, 2111939-2111975, 2112498-2112525, 2112554-2112556, 2112559, 2112566-2112586, 2112593-2112601, 2112973-2112988, 2113012, 2113022-2113039, 2113049-2113053, 2114273-2114290, 2114329-2114368, 2114379-2114428, 2115610-2115611, 2115632-2115636, 2120457-2120458, 2120490-2120508, 2120538-2120562, 2120566-2120569, 2121523-2121570, 2121593-2121607, 2121793-2121935, 2122242-2122301, 2122315-2122364, 2122888, 2122897, 2122924-2122940, 2122948-2122984, 2124203-2124224, 2124232, 2124241-2124300, 2124310-2124390, 2125800-2125803, 2125832-2125835, 2125859-2125893, 2126110, 2126121-2126171, 2126502-2126586, 2127599, 2127603-2127605, 2127611-2127612, 2127615-2127617, 2127640-2127727, 2129033-2129197, 2129277-2129292, 2129314-2129376, 2129386-2129429, 2129558-2129670, 2130166-2130181, 2130193-2130378, 2131596-2131709, 2131722-2131763, 2131776-2131778, 2131786-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138272, 2138278-2138326, 2138447-2138505, 2138514-2138537, 2138544-2138611
215PKD1160.002323420074349512882129122139728-2140078, 2140088-2140195, 2140288-2140422, 2140430-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143818-2143890, 2143897-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
216ABCA3160.8934506353861254551152326690, 2327620-2327626, 2327967-2327970, 2327981, 2328304, 2328313-2328321, 2328434-2328440, 2328970, 2329048-2329049, 2329056, 2329126-2329130, 2331114, 2331120-2331121, 2331142, 2333187-2333211, 2333228-2333254, 2333294-2333306, 2333330-2333359, 2334335-2334355, 2334792, 2334974-2334977, 2334984-2334994, 2334998-2334999, 2335465, 2338053-2338060, 2338074, 2338143-2338146, 2338278, 2339466, 2339544, 2339555, 2342148-2342187, 2345624, 2347332-2347337, 2347401-2347410, 2347415, 2347419-2347440, 2347493-2347522, 2347538, 2347767-2347789, 2347803-2347804, 2347836-2347896, 2348387-2348398, 2348407-2348445, 2348506-2348515, 2348528, 2350006-2350034, 2354099-2354101, 2354104-2354111, 2358598, 2358602-2358604, 2358608-2358612, 2358622, 2367656, 2367687-2367708, 2369649-2369651, 2369656, 2369659-2369661, 2369740, 2369743-2369750, 2373541, 2374411
217MEFV160.973572037510666223463293548-3293552, 3304494-3304524, 3304638, 3304687-3304696, 3306340-3306341, 3306344, 3306347, 3306387, 3306389-3306398
218SLX4160.992915531335153955053632502, 3632521, 3633113-3633115, 3639364-3639371, 3639476, 3639637, 3639771-3639777, 3639813-3639825, 3639991, 3646252, 3647829, 3647847
219CREBBP160.9482876245053937973293777745-3777773, 3777775, 3777782, 3777974, 3778042, 3778064, 3778068, 3778143-3778158, 3778297, 3778300-3778304, 3778397-3778464, 3778560-3778562, 3778570-3778571, 3778602-3778604, 3778614-3778625, 3778637-3778671, 3778686, 3778698, 3778779-3778793, 3778898-3778934, 3778961-3778992, 3779070-3779073, 3779080, 3779089, 3779092, 3779157-3779180, 3779199, 3779259-3779262, 3779360-3779414, 3779452-3779455, 3779464-3779471, 3779483-3779486, 3779723-3779728
220GLIS2160.22730158730159121715754382282-4382287, 4382298-4382299, 4382323-4382352, 4382377-4382389, 4382408-4382429, 4382451-4382453, 4383348-4383389, 4383399-4383400, 4383411-4383425, 4383451-4383483, 4383505-4383507, 4383520, 4384802-4384914, 4384957-4384976, 4385064-4385111, 4385125-4385194, 4385276-4385287, 4385291, 4385299, 4385349-4385352, 4385360-4385369, 4385377, 4386726-4386882, 4386901-4387291, 4387299-4387497, 4387503-4387520
221ALG1160.8136200716845926013955121886-5121895, 5122040-5122042, 5128758-5128805, 5128813-5128879, 5130956-5131013, 5131020-5131026, 5131032-5131057, 5132636, 5133754-5133758, 5134813-5134846, 5134877
222ABCC6160.81626773049645829451216244084, 16244090, 16244094, 16244519, 16244525, 16244551, 16248825-16248831, 16253345-16253347, 16253350, 16255295-16255356, 16255401-16255421, 16256894-16256916, 16256958, 16256968-16256990, 16257039-16257042, 16259480-16259530, 16259541-16259544, 16259569, 16259573-16259596, 16259609-16259619, 16259640-16259665, 16259680-16259741, 16259756-16259790, 16263515-16263597, 16263637-16263664, 16263670-16263671, 16263682-16263710, 16267141-16267183, 16267188-16267261, 16269768-16269822, 16269838-16269843, 16271332-16271349, 16271367-16271396, 16271408-16271409, 16271422-16271423, 16271430-16271438, 16271455-16271464, 16272665, 16272710-16272722, 16272772, 16276753, 16278816-16278821, 16278863-16278880, 16291889, 16315540-16315546, 16317267-16317291
223UMOD160.9578783151326181192320359895-20359926, 20360006-20360009, 20360062, 20360073-20360081, 20360101, 20360103-20360113, 20360249, 20360252-20360262, 20360310-20360320
224OTOA160.9856725146198849342021696597-21696619, 21696628-21696634, 21742179, 21747694-21747711
225SCNN1B160.999479979199171192323392071
226COG7160.9939472546476414231323403704, 23436176-23436187, 23464191
227CLN3160.9870918754745617131728497686-28497697, 28497702-28497706
228TUFM160.9671052631578945136828857267, 28857385-28857402, 28857551, 28857554, 28857562-28857585
229ATP2A1160.999667332002661300628898876
230PHKG2160.9705159705159736122130760145-30760151, 30760182-30760205, 30760235-30760236, 30768295, 30768353, 30768378
231VKORC1160.959349593495932049231105888, 31105936, 31105945-31105958, 31105969-31105972
232SLC5A2160.94749876176325106201931497147, 31498886, 31498889, 31499360-31499394, 31499782-31499789, 31500003-31500024, 31500057, 31500060-31500061, 31500072-31500074, 31500331-31500337, 31500347-31500369, 31501738, 31501742
233NOD2160.9964777457572811312350745859-50745861, 50745873-50745880
234SALL1160.999245283018873397551175656-51175658
235SLC12A3160.9864209505334642309356899148-56899152, 56901104-56901107, 56920931, 56920972-56920988, 56921859-56921868, 56921939-56921943
236GPR56160.997577519379845206457688041-57688045
237TK2160.961038961038963692466583873-66583884, 66583914-66583926, 66583973, 66584036-66584045
238HSD11B2160.81609195402299224121867465160-67465286, 67465291, 67465301-67465347, 67465368-67465416
239LCAT160.86318972033258181132367973816-67973828, 67973867-67973890, 67973916-67973924, 67973935, 67973963-67973980, 67974005-67974009, 67974049-67974050, 67974100, 67974103, 67974107, 67976400-67976418, 67976466, 67976482-67976484, 67976645-67976669, 67976777-67976783, 67976850-67976851, 67976862-67976879, 67976968-67976987, 67976990-67976991, 67977082, 67977095-67977096, 67977099, 67977873, 67977999-67978002
240CDH3160.997188755020087249068721594-68721598, 68725783, 68725789
241CDH1160.9837674594186543264968771319-68771355, 68771358-68771363
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380PNKP190.9584929757343565156650364865-50364874, 50365039, 50365042, 50365633-50365636, 50365797-50365804, 50365851-50365857, 50365982-50365990, 50370348-50370353, 50370411, 50370422-50370439
381MYH14190.9905089183439758611150762418, 50764808-50764825, 50764864-50764870, 50766581-50766600, 50770214-50770222, 50770229-50770231
382KCNC3190.69349164467898697227450823516-50823533, 50823537, 50823545, 50823576-50823606, 50826249-50826256, 50826324-50826329, 50826351, 50826363-50826367, 50826370-50826400, 50826429, 50826434-50826442, 50826456-50826483, 50826904-50826925, 50827029-50827032, 50831498, 50831561-50831564, 50831586, 50831649-50831657, 50831683-50831737, 50831751-50831752, 50831762-50831763, 50831775, 50831786-50831800, 50831828-50831834, 50831868-50832029, 50832047-50832068, 50832079-50832128, 50832140-50832339
383NLRP12190.9601381042059127318654304525-54304528, 54304585-54304621, 54307322, 54307326, 54310902, 54312897-54312909, 54312965-54312974, 54313386-54313389, 54313510-54313514, 54313594-54313607, 54313768-54313800, 54314384-54314387
384PRKCG190.93696275071633132209454392924, 54392931-54392941, 54392944, 54392958-54392961, 54392965-54392992, 54393140-54393160, 54401239-54401240, 54401737-54401744, 54401836, 54401847, 54401859-54401876, 54409704-54409707, 54410072-54410103
385PRPF31190.91466666666667128150054627139-54627145, 54627955-54627956, 54627966-54627967, 54631449-54631484, 54631497-54631504, 54631534-54631549, 54631570, 54631680-54631686, 54631703-54631721, 54631746-54631752, 54632432-54632443, 54632489, 54632533, 54632675, 54632698, 54632713-54632719
386TSEN34190.980707395498391893354695358-54695375
387TNNT1190.974651457541192078955644325, 55645255-55645261, 55645270-55645271, 55645288, 55652323-55652328, 55658051-55658053
388TNNI3190.99343185550082460955667688-55667691
389TPO20.9064953604568226228021457527-1457529, 1480913, 1480960, 1480972, 1481019-1481028, 1481080-1481105, 1481146-1481149, 1481190-1481191, 1481196-1481202, 1481219, 1481224, 1481231, 1481257-1481263, 1481270, 1481319-1481337, 1481366, 1520655-1520754, 1544367, 1544378-1544379, 1544406-1544478
390RPS720.93504273504274385853623249-3623263, 3623456-3623478
391KLF1120.9727095516569242153910183844-10183885
392MYCN20.8336917562724232139516082187-16082190, 16082286-16082288, 16082321-16082322, 16082344-16082414, 16082539-16082544, 16082550-16082573, 16082587-16082652, 16082692-16082697, 16082728-16082732, 16082771-16082784, 16082877, 16082903-16082932
393MATN320.998631074606432146120212216-20212217
394APOB20.99539877300613631369221266741-21266803
395POMC20.963930348258712980425384432, 25384453-25384480
396OTOF20.736736736736741578599426686908, 26695407-26695504, 26696022-26696064, 26696085-26696091, 26696138-26696145, 26696149, 26696303, 26696314-26696322, 26696326, 26696329, 26696335-26696380, 26696869, 26696885-26696938, 26697381-26697397, 26697416-26697542, 26698276-26698278, 26698334-26698361, 26698782-26698808, 26698839-26698876, 26698905-26698906, 26698996-26699005, 26699027-26699037, 26699062-26699110, 26699119-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700365, 26700371-26700374, 26700517-26700592, 26700605-26700617, 26702132-26702149, 26702156-26702186, 26702204-26702223, 26702235-26702252, 26702341-26702452, 26702463-26702467, 26702472-26702489, 26702504-26702521, 26703071-26703083, 26703095-26703125, 26703150-26703154, 26703660-26703673, 26703725, 26703777-26703845, 26705274-26705276, 26705301-26705334, 26705362-26705383, 26705398-26705404, 26705409-26705418, 26705429, 26705439-26705449, 26705459-26705460, 26707342-26707358, 26712109, 26712598-26712599
397ALK20.9946535060662126486329443621-29443628, 30142861-30142862, 30143496-30143511
398SPAST20.94219340896813107185132288990-32288991, 32288999-32289036, 32289086-32289088, 32289093-32289097, 32289102, 32289128-32289132, 32289148-32289151, 32289180, 32289191-32289226, 32289241-32289244, 32289293-32289300
399CYP1B120.90441176470588156163238301513, 38301697, 38301838-38301840, 38301846-38301854, 38301934-38301948, 38301981-38302002, 38302015, 38302135, 38302139, 38302182-38302210, 38302231-38302267, 38302272, 38302313, 38302317, 38302320, 38302323, 38302422-38302425, 38302428, 38302437-38302438, 38302449-38302453, 38302471-38302486, 38302494, 38302515, 38302530
400ABCG520.998977505112472195644059139, 44059176
401ABCG820.9945598417408511202244099145-44099148, 44099185, 44099225-44099230
402LRPPRC20.9964157706093215418544222958-44222972
403EPCAM20.955555555555564294547596645, 47596664-47596704
404MSH620.96130296350723158408348010380, 48010383, 48010443-48010576, 48010595-48010606, 48010623-48010632
405LHCGR20.995238095238110210048982763-48982772
406NRXN120.9972881355932212442551254917-51254928
407DYSF20.9957547169811327636071797783-71797791, 71825789-71825791, 71825822-71825826, 71827944-71827946, 71828637-71828643
408SPR20.898218829516548078673114562-73114568, 73114604, 73114608, 73114623-73114655, 73114669-73114679, 73114795-73114811, 73114836-73114845
409ALMS120.9997600767754331250473613032-73613034
410MOGS20.94709626093874133251474688996-74689013, 74689080-74689083, 74689358-74689365, 74689576-74689583, 74692170, 74692217-74692219, 74692222-74692239, 74692258-74692302, 74692337-74692364
411HTRA220.998547567175022137774757248, 74757251
412SFTPB20.997382198952883114685895264-85895266
413REEP120.947194719471953260686564602-86564633
414EIF2AK320.9907490301402631335188926532, 88926602-88926618, 88926678, 88926734-88926737, 88926758, 88926786-88926792
415TMEM12720.866108786610889671796930879, 96930885-96930893, 96930942-96930970, 96930989-96930998, 96931040-96931043, 96931073-96931098, 96931103-96931119
416ZAP7020.998387096774193186098340549-98340551
417RANBP220.980671834625321879675109336115-109336134, 109345588-109345601, 109347230, 109352023-109352029, 109357110-109357116, 109363251-109363254, 109367756-109367783, 109368082-109368111, 109382787-109382793, 109383041-109383058, 109383084-109383111, 109384628-109384634, 109384811-109384825, 109399221
418MERTK20.97866666666667643000112656315-112656362, 112786231-112786246
419PAX820.9985218033998521353113994196, 113994199
420GLI220.921865154379333724761121555016-121555029, 121728011, 121728159-121728163, 121745921-121745935, 121745990-121746003, 121746034-121746055, 121746080-121746096, 121746134, 121746139-121746162, 121746184-121746200, 121746215-121746259, 121746292-121746311, 121746373-121746425, 121746501-121746532, 121746571-121746592, 121746594, 121746597-121746599, 121746620, 121746696-121746715, 121746798-121746805, 121747153-121747170, 121747221-121747229, 121747458-121747459, 121747576, 121747626-121747632
421BIN120.98035914702581351782127808456-127808461, 127808471, 127811572-127811576, 127811581-127811584, 127815082-127815083, 127864436-127864437, 127864471-127864485
422PROC20.96608946608947471386128180516, 128180663-128180688, 128180703-128180720, 128180747, 128186152
423CFC120.82291666666667119672131279624-131279625, 131279640, 131279660, 131279667, 131280363-131280411, 131280421-131280455, 131280742-131280752, 131280801-131280804, 131280809-131280811, 131280816, 131280824, 131280844-131280849, 131285310, 131285371, 131285378-131285379
424NEB20.99964954440773719974152432826-152432828, 152520172-152520173, 152534281-152534282
425ITGA620.98015873015873653276173292517-173292549, 173292578-173292591, 173292679-173292696
426CHN120.9978260869565231380175869637, 175869639-175869640
427HOXD1320.873062015503881311032176957622, 176957629-176957637, 176957667, 176957670-176957681, 176957707-176957739, 176957775-176957843, 176957919, 176958003, 176958021-176958024
428AGPS20.9954476479514491977178257595, 178257615, 178257628-178257629, 178257637-178257639, 178257710, 178257769
429PRKRA20.993630573248416942179315720, 179315725, 179315730-179315733
430TTN20.999910222647839100248179392350, 179433960-179433965, 179514904-179514905
431CERKL20.9981238273921231599182468625, 182468653-182468654
432COL3A120.99045671438309424401189860426-189860451, 189869025-189869039, 189872627
433HSPD120.9994192799070811722198351838
434ACADL20.9976798143851531293211089916-211089918
435SMARCAL120.997905759162362865217285108-217285111, 217340030, 217340033
436WNT10A20.94178628389155731254219745738-219745752, 219745805-219745809, 219757539, 219757756-219757783, 219757862-219757885
437DES20.97452229299363361413220283222-220283242, 220283258-220283259, 220283272, 220283277, 220283590-220283592, 220283703-220283710
438OBSL120.93674222456513605691220416404-220416435, 220417304, 220417312-220417315, 220417348, 220417367-220417381, 220417644-220417661, 220435388-220435409, 220435525, 220435528, 220435597-220435644, 220435650-220435676, 220435683-220435800, 220435852-220435871, 220435898-220435926, 220435932-220435954
439COL4A320.9994015559545235013228029489-228029491
440CHRND20.99163449163449131554233390927-233390931, 233390949-233390950, 233390954, 233394685-233394688, 233394761
441COL6A320.9998951122299119534238249097
442AGXT20.95674300254453511179241808339-241808360, 241808400, 241808622-241808623, 241810108-241810125, 241817486-241817493
443D2HGDH20.697956577266924731566242674640-242674670, 242674726-242674760, 242674803, 242674813, 242674843-242674852, 242680448, 242680452-242680457, 242689589-242689605, 242689624-242689709, 242690734, 242690750-242690784, 242695264-242695269, 242695352-242695359, 242695385-242695428, 242707129-242707132, 242707136, 242707145-242707156, 242707160-242707196, 242707209-242707233, 242707268-242707289, 242707295-242707384
444AVP200.83838383838384804953063331, 3063336, 3063342-3063350, 3063359-3063406, 3063409-3063411, 3063633-3063648, 3063770, 3063820
445PANK2200.959719789842386917133870109-3870134, 3870189-3870199, 3870208-3870209, 3870244-3870249, 3870255-3870278
446JAG1200.9819524200164166365710653401-10653403, 10653516-10653523, 10653563-10653567, 10653616-10653619, 10653628-10653654, 10654115-10654126, 10654152-10654157, 10654161
447C20orf7200.9894026974951811103813765715-13765717, 13765917-13765924
448THBD200.9855324074074125172823029525-23029547, 23029673, 23029793
449SNTA1200.86231884057971209151832000219, 32000222-32000227, 32031120-32031242, 32031260-32031275, 32031322-32031326, 32031335-32031345, 32031352, 32031367-32031385, 32031389-32031415
450GDF5200.996679946879155150634025139-34025143
451SAMHD1200.99734183944715188135579852-35579856
452HNF4A200.9929824561403510142543052673-43052674, 43052846-43052853
453ADA200.949633699633755109243254279-43254298, 43255135-43255136, 43255139-43255151, 43255199, 43257756-43257774
454CTSA200.9759519038076236149744520234-44520269
455SLC2A10200.998769987699882162645354894-45354895
456SALL4200.9933586337760921316250407025, 50407172-50407184, 50408342-50408347, 50418837
457GNAS200.747967479674818673857415183-57415207, 57415245, 57415266, 57415281-57415283, 57415311-57415356, 57415397, 57415401-57415404, 57415447-57415452, 57415459-57415460, 57415464-57415471, 57415646-57415692, 57415722-57415725, 57415732, 57415766-57415788, 57415808-57415817, 57415850-57415853
458GNAS200.84296724470135489311457428647, 57428712, 57428716-57428720, 57428941-57428972, 57429065-57429074, 57429126-57429138, 57429190-57429221, 57429257-57429289, 57429404-57429433, 57429464-57429524, 57429560-57429594, 57429626-57429632, 57429642-57429655, 57429661-57429663, 57429666, 57429677-57429755, 57429812-57429826, 57429855-57429858, 57429874, 57429883-57429887, 57429897, 57429900-57429901, 57429927-57429948, 57429994-57429997, 57430030-57430107
459COL9A3200.64817518248175723205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450591-61450599, 61450614, 61450625-61450631, 61451282-61451297, 61451321-61451334, 61452533-61452541, 61452565-61452568, 61453109-61453117, 61453129, 61453463-61453516, 61453962-61453984, 61455797-61455818, 61456320-61456359, 61456370, 61457176-61457222, 61457556-61457558, 61457566-61457597, 61458140-61458150, 61458595, 61458601-61458608, 61459306, 61459316, 61459319-61459320, 61459323-61459324, 61460151, 61460276-61460307, 61460326-61460328, 61460811-61460829, 61460980-61461004, 61461118-61461126, 61461129, 61461150-61461171, 61461712-61461717, 61461748-61461752, 61461755, 61461759, 61461869-61461927, 61463530-61463531, 61467569-61467586, 61467595-61467601, 61467610, 61467613, 61467875-61467882, 61468571
460CHRNA4200.200636942675161506188461978124-61978165, 61978179-61978215, 61981005-61981203, 61981224-61981489, 61981510-61981557, 61981567, 61981576-61981732, 61981745-61981798, 61981843-61981847, 61981866-61981867, 61981887-61981974, 61981984-61981985, 61982048-61982050, 61982053-61982054, 61982059-61982065, 61982076-61982079, 61982085-61982096, 61982100-61982101, 61982119-61982154, 61982164-61982198, 61982208-61982255, 61982261-61982268, 61982280-61982317, 61982347-61982371, 61982375-61982376, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
461KCNQ2200.437189767086671474261962037997-62038067, 62038076-62038119, 62038130-62038171, 62038182-62038183, 62038188-62038190, 62038199-62038200, 62038207, 62038218-62038225, 62038234-62038254, 62038257, 62038277, 62038284-62038307, 62038310, 62038324-62038384, 62038387-62038389, 62038400, 62038409-62038479, 62038506-62038522, 62038536-62038594, 62038607-62038608, 62038612-62038646, 62038656-62038680, 62038701-62038703, 62038711-62038728, 62039776-62039808, 62039819-62039869, 62044857-62044860, 62044885, 62044890, 62044899, 62044908-62044910, 62044933-62044934, 62045451, 62045459, 62045465, 62045494, 62045500, 62045503, 62045518, 62046272, 62046279, 62046310-62046338, 62046388-62046396, 62046435-62046436, 62055533, 62059720-62059724, 62059729-62059731, 62062693, 62065174-62065197, 62065202-62065204, 62065252, 62070046-62070050, 62070951-62070984, 62070992-62071061, 62073759-62073765, 62073771-62073837, 62073878-62073884, 62076012-62076041, 62076064-62076187, 62076591-62076621, 62076624-62076630, 62076642-62076699, 62076713-62076717, 62078133-62078166, 62103521-62103816
462SOX18200.0424242424242421106115562679519-62679542, 62679549-62679637, 62679643-62679693, 62679703-62679783, 62679797-62679817, 62679823-62680117, 62680129-62680315, 62680512-62680869
463IFNGR2210.9280078895463573101434775850-34775922
464RCAN1210.8537549407114611175935987059-35987066, 35987196-35987295, 35987308-35987310
465RUNX1210.9854469854469921144336164452-36164454, 36164461-36164463, 36259185-36259186, 36259272-36259273, 36259294, 36259384-36259393
466CLDN14210.983333333333331272037833307, 37833833-37833835, 37833969-37833976
467CBS210.93599033816425106165644474007-44474008, 44476913-44476942, 44476990, 44478343-44478363, 44478950-44478953, 44478960-44478982, 44479025-44479040, 44479072-44479074, 44479345-44479347, 44483065, 44483074, 44488689
468CSTB210.919191919191922429745196090-45196113
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536FGFR340.41615162752369141724271795662-1795765, 1800981-1801097, 1801118, 1801121-1801157, 1801169-1801171, 1801184-1801220, 1801239, 1801242-1801250, 1801474-1801493, 1801502-1801508, 1803109-1803178, 1803202-1803254, 1803347-1803405, 1803424-1803470, 1803569-1803591, 1803619-1803661, 1803682-1803752, 1804641-1804675, 1804727-1804728, 1804741-1804744, 1804753, 1804788, 1806062, 1806075-1806092, 1806122-1806163, 1806232-1806247, 1806563-1806578, 1806602-1806639, 1806645-1806696, 1807085-1807091, 1807094-1807095, 1807121-1807142, 1807165, 1807172, 1807175, 1807291-1807297, 1807338-1807365, 1807374-1807396, 1807477-1807492, 1807501, 1807515-1807555, 1807564-1807585, 1807604-1807627, 1807657, 1807778-1807797, 1807871-1807882, 1807984-1807996, 1808045, 1808293-1808294, 1808308-1808350, 1808365-1808370, 1808374-1808384, 1808556-1808567, 1808571-1808613, 1808636-1808661, 1808843-1808863, 1808875, 1808887-1808905, 1808910, 1808929-1808989
537SH3BP240.9143780290791615918572819960-2819981, 2819997-2820089, 2820112-2820117, 2831383, 2831570, 2831817, 2833374-2833381, 2833669-2833683, 2835425, 2835516-2835526
538HTT40.9729557747375125594293076618-3076674, 3076689-3076758, 3076774, 3076795-3076815, 3213803, 3213813, 3215750-3215752, 3234954-3234972, 3234980, 3235004-3235014, 3235022, 3240261-3240275, 3240304-3240325, 3240625-3240626, 3240636-3240640, 3240646, 3241590, 3241593, 3241748, 3241766-3241786
539DOK740.4547854785478582615153465103-3465145, 3465151-3465156, 3465233-3465278, 3475133-3475181, 3475222-3475224, 3475229-3475230, 3475252, 3475289-3475316, 3475346-3475357, 3478069-3478097, 3478103-3478104, 3478109-3478110, 3478113, 3478118-3478149, 3478165-3478166, 3478169, 3478172, 3478213-3478233, 3478267-3478268, 3487286, 3487317-3487356, 3487374-3487382, 3494486-3494490, 3494536-3494541, 3494562-3494604, 3494611-3494686, 3494696-3494726, 3494740-3494752, 3494774-3494820, 3494826, 3494847-3494900, 3494930, 3494948-3495162, 3495216
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541EVC240.977081741787629039275570270-5570272, 5710027-5710033, 5710036-5710038, 5710130-5710177, 5710185-5710205, 5710210-5710214, 5710217-5710219
542EVC40.9650889560255110429795713108-5713159, 5713165-5713168, 5713171, 5713174, 5713178-5713180, 5713183, 5713195-5713221, 5713224, 5713237, 5713254, 5755629-5755636, 5800423-5800426
543WFS140.983913206135434326736279243-6279256, 6279349-6279355, 6293009-6293021, 6302905, 6303455-6303460, 6303946-6303947
544KIT40.9965881951552410293155524197-55524206
545COQ240.9887445887445913115584205753-84205760, 84205909-84205913
546CDS140.99927849927851138685504636
547PKD240.94427244582043162290788928886-88929010, 88929035, 88929072-88929101, 88929174-88929179
548CISD240.8676470588235354408103808506-103808540, 103808569-103808587
549MFSD840.9987154784842621557128886246-128886247
550LRAT40.9985569985571693155670190
551CTSO40.9534161490683245966156874946-156874990
552GK40.98014440433213331662166199358-166199364, 166199584-166199609
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556TERT50.40041188584878203833991253892, 1253895-1253897, 1253928-1253946, 1254488, 1254517-1254531, 1254560-1254566, 1255492-1255495, 1255501, 1258713-1258738, 1264553-1264598, 1266617-1266648, 1268635-1268740, 1271234-1271319, 1272300-1272395, 1278756-1278858, 1278886-1278911, 1279406-1279490, 1279519-1279560, 1279571-1279573, 1279575-1279585, 1280299-1280386, 1280430-1280453, 1282618-1282619, 1282704-1282714, 1293428-1293453, 1293529-1293533, 1293538, 1293565-1293586, 1293596-1293602, 1293614-1293650, 1293676-1293678, 1293688-1293793, 1293827-1293889, 1293898-1293920, 1293942-1293961, 1293974-1294000, 1294018-1294053, 1294064-1294114, 1294130-1294136, 1294192-1294387, 1294403-1294440, 1294447-1294511, 1294521-1294781, 1294886-1295011, 1295020-1295022, 1295028-1295104
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558SDHA50.96941896024465103271589426-1589432, 1594529, 1594534-1594535
559NDUFS650.89066666666667413751801532-1801570, 1801578, 1801581
560CCT550.997539975399754162610250541-10250544
561FAM134B50.971887550200842149416616822-16616823, 16616879-16616908, 16616959-16616968
562AMACR50.999129677980851114934007928
563ERCC850.99832073887492119160170509-60170510
564SMN250.98192090395481688569362946-69362961
565SMN250.98192090395481688570238370-70238385
566MCCC250.9899527186761217169270883253-70883256, 70883309-70883321
567HEXB50.9521244763614680167173981097, 73981103, 73981106-73981116, 73981150-73981183, 73981207, 73981223-73981236, 73981320-73981337
568ARSB50.9906367041198515160278280787, 78281037-78281044, 78281050-78281052, 78281057, 78281060-78281061
569RASA150.99840966921125314486670043-86670047
570LMNB150.918796138557641431761126113201, 126113214, 126113217-126113220, 126113244, 126113275-126113298, 126113322, 126113363-126113392, 126113428, 126113433-126113449, 126113451-126113487, 126113502-126113527
571FBN250.98912919098295958739127873065-127873090, 127873093, 127873143-127873178, 127873208-127873219, 127873266-127873285
572SLC22A550.97968936678614341674131705666, 131705674, 131705789-131705790, 131705799, 131705805, 131705818, 131705865-131705886, 131706005-131706009
573SIL150.906204906204911301386138282806-138282852, 138282910-138282955, 138282965, 138283027-138283030, 138283053-138283064, 138283084, 138283096-138283106, 138283111-138283112, 138283161-138283162, 138286866-138286867, 138286928, 138287005
574TCOF150.973370064279161164356149737315-149737392, 149748378-149748391, 149748422, 149748427-149748436, 149755463, 149755800, 149755816-149755817, 149759276-149759283, 149771665
575NIPAL450.98857958600999161401156887228-156887229, 156887232-156887238, 156887359-156887365
576NKX2-550.997948717948722975172661917, 172662016
577MSX250.9577114427860734804174151716, 174151734-174151743, 174151766-174151770, 174151775, 174151783-174151784, 174151870, 174151877-174151886, 174151896-174151899
578F1250.8522336769759486582176829370, 176829401, 176829446-176829448, 176830255-176830293, 176830299-176830300, 176830309, 176830312-176830322, 176830332-176830354, 176830363-176830367
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580NHP250.987012987012996462177580561, 177580732-177580736
581GRM650.941154138192861552634178408664, 178413720, 178413953-178413968, 178421516-178421529, 178421566-178421599, 178421640-178421644, 178421668-178421704, 178421762-178421776, 178421784-178421794, 178421828, 178421877-178421885, 178421895-178421905
582SQSTM150.828420256991692271323179247937-179248141, 179250920-179250941
583FLT450.2756598240469229644092180038331-180038336, 180039525-180039530, 180039596-180039609, 180043367-180043370, 180043388-180043403, 180043408-180043413, 180043436-180043460, 180043485-180043488, 180043911-180043918, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047184-180047308, 180047618-180047659, 180047677-180047715, 180047876-180047993, 180048001-180048007, 180048106-180048168, 180048176-180048221, 180048235, 180048247-180048252, 180048542-180048595, 180048599-180048642, 180048652-180048760, 180048772-180048904, 180049731-180049787, 180049807-180049838, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058698, 180058707-180058778, 180076488-180076545
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585TUBB2B60.7877428998505228413383224998-3225030, 3225039-3225054, 3225096, 3225128, 3225134-3225137, 3225166-3225175, 3225213, 3225227, 3225246-3225247, 3225256, 3225373, 3225382-3225424, 3225434-3225522, 3225544, 3225593, 3225711-3225748, 3225929, 3225932, 3225963-3225964, 3226033-3226043, 3227721-3227746
586DSP60.99965181058496386167542149-7542151
587TFAP2A60.9824961948249623131410404770-10404791, 10404804
588DTNBP160.9820075757575819105615663079-15663097
589ATXN160.9660947712418383244816326982-16326985, 16327522-16327530, 16327551-16327561, 16327830, 16327843-16327888, 16327908-16327909, 16327915, 16327921, 16327936-16327937, 16327940-16327945
590NHLRC160.997474747474753118818122710, 18122800-18122801
591ALDH5A160.979963570127533164724495330, 24495335, 24495469-24495492, 24495526-24495532
592HLA-H60.78416275029855772-29855827, 29855844-29855858, 29855966-29856001, 29856329-29856342, 29856417-29856457
593NEU160.999198717948721124831830491
594TNXB60.84085018144116307192931976458-31976464, 31976896-31976929, 31977088, 31977162, 31977378-31977395, 31977525-31977555, 31977795, 31977874, 31977995-31978008, 31978121, 31978295-31978301, 31978491-31978535, 31978578-31978599, 31979033-31979052, 31979396-31979424, 31979444-31979482, 31979520-31979527, 31979569-31979570, 31979629-31979635, 31979960-31979976, 31980079-31980080
595CYP21A260.92002688172043119148832006200-32006204, 32006210-32006246, 32006317, 32006337, 32006886, 32006951-32006972, 32008245, 32008293, 32008474, 32008529-32008540, 32008684-32008697, 32008729-32008731, 32008754, 32008770-32008771, 32008823, 32008828, 32008893-32008907
596TNXB60.979652761410952591272932009193-32009227, 32009648-32009664, 32009819, 32009823, 32009893, 32009897, 32010113-32010129, 32010251-32010275, 32010353-32010354, 32010529, 32010729-32010742, 32010849-32010858, 32011093-32011095, 32011232, 32011235, 32011248, 32011888-32011906, 32012250-32012278, 32012301-32012336, 32012370-32012380, 32012423-32012424, 32012488, 32012814-32012830, 32014059-32014060, 32014063, 32023711, 32029226-32029227, 32064335-32064339, 32064661-32064662
597HLA-DQA160.923177083333335976832609147, 32609150, 32609181, 32609965, 32610387-32610406, 32610436, 32610461, 32610478, 32610481, 32610487, 32610510-32610539
598HLA-DQB160.8167938931297714478632629124-32629173, 32629224-32629234, 32632575-32632612, 32632678-32632694, 32632724-32632748, 32632781-32632782, 32634280
599SYNGAP160.9804067460317579403233388042-33388108, 33411447-33411457, 33411509
600FANCE60.9677219118559952161135420364-35420368, 35420388, 35420394, 35420397-35420398, 35420434-35420435, 35420472-35420507, 35420547, 35423580-35423582, 35423585
601TULP160.93370165745856108162935466218-35466237, 35479485-35479496, 35479555-35479583, 35479961-35479963, 35479969-35479982, 35480590-35480619
602LHFPL560.9969696969697266035773472, 35773537
603MOCS160.78126635269492418191139893422-39893589, 39895068-39895317
604PRPH260.9855907780979815104142672156-42672170
605PEX660.9925246347264722294342946599, 42946645-42946665
606RSPH960.957882069795433583143612858, 43612861, 43612865-43612890, 43612894-43612896, 43612923-43612926
607RUNX260.9865900383141821156645390490-45390510
608RIMS160.9887773183697657507972892350-72892364, 72892382-72892383, 72892410-72892439, 72892646-72892652, 72892797, 72892829, 72892839
609SIM160.98826597131682272301100896027-100896047, 100896360, 100896412-100896416
610OSTM160.90248756218905981005108395492, 108395704-108395705, 108395708, 108395710, 108395714-108395758, 108395780-108395806, 108395811-108395812, 108395815-108395818, 108395841-108395855
611ENPP160.98956083513319292778132129177-132129194, 132129241-132129250, 132129258
612PEX760.9732510288065826972137143890, 137143904-137143928
613EPM2A60.9809236947791219996146056476, 146056501-146056505, 146056532-146056543, 146056587
614SYNE160.999621126013491026394152454421-152454423, 152644745-152644751
615TBP60.882352941176471201020170870992-170871109, 170871119, 170871122
616LFNG70.2517543859649185311402559496-2559914, 2559923, 2564338-2564342, 2564353-2564354, 2564369-2564373, 2564853-2564867, 2564882, 2564893-2564896, 2564914-2564922, 2564938-2564952, 2565056-2565201, 2565319-2565326, 2565340-2565400, 2565878-2565911, 2565926-2565954, 2565980-2565991, 2566000-2566039, 2566475, 2566530-2566555, 2566800-2566812, 2566815-2566819, 2566826, 2566834
617PMS270.962920046349949625896013046-6013052, 6013150-6013157, 6017281-6017287, 6026653, 6026656, 6026786-6026792, 6026924, 6026998-6027020, 6027157, 6029433-6029450, 6045629-6045635, 6048628-6048642
618TWIST170.3678160919540238560919156552-19156583, 19156592-19156944
619DNAH1170.99801061007958271357221583039, 21583180-21583205
620HOXA1370.67952013710368374116727238907, 27239061, 27239065-27239066, 27239159-27239214, 27239217-27239220, 27239250-27239255, 27239265-27239423, 27239441-27239579, 27239582-27239583, 27239620-27239623
621GLI370.9896689858739249474342005182-42005185, 42005239-42005254, 42005573, 42005584-42005589, 42005594-42005596, 42005696-42005702, 42005893-42005900, 42005938-42005941
622PGAM270.871391076115499876244104513-44104520, 44104715-44104736, 44104810-44104845, 44104879, 44104884, 44104916-44104941, 44105012, 44105067, 44105095, 44105111
623GCK70.92648108493933103140144185147-44185148, 44185157, 44185226-44185228, 44186080-44186093, 44186098, 44186101, 44186104-44186111, 44186125, 44186213-44186217, 44191870-44191879, 44191931, 44191939, 44191948-44191957, 44191986-44191992, 44192907, 44192966-44192991, 44193049-44193059
624CCM270.78801498127341283133545039933-45039941, 45039949-45039953, 45104113, 45113059-45113063, 45113133-45113139, 45113146-45113170, 45113869-45113941, 45113951-45113973, 45113990-45114007, 45115377-45115381, 45115393-45115394, 45115418-45115434, 45115452-45115495, 45115511, 45115538, 45115541, 45115549-45115550, 45115561-45115562, 45115574-45115582, 45115608-45115622, 45115639-45115656
625EGFR70.9796311588219174363355086972-55086974, 55086985-55087053, 55220294-55220295
626GUSB70.996421267893667195665447067-65447073
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704DBH90.864077669902912521854136501518-136501520, 136501551-136501557, 136501654, 136504969-136504975, 136505038-136505040, 136508591-136508597, 136508690-136508698, 136513011-136513014, 136513114-136513115, 136516770-136516808, 136516832-136516884, 136517394, 136521669-136521712, 136522233-136522280, 136522306-136522329
705SARDH90.952484584693511312757136529129, 136535706-136535772, 136535787-136535792, 136535867, 136536671-136536688, 136536701-136536738
706COL5A190.854631140112388025517137534034-137534142, 137582758-137582799, 137582802, 137582844-137582855, 137582858-137582918, 137582924-137582925, 137591755-137591787, 137591811-137591872, 137591926-137591928, 137593034, 137593087-137593094, 137593101-137593109, 137593116-137593173, 137623476, 137630621, 137642388-137642433, 137642636-137642638, 137642698-137642726, 137644435-137644469, 137644476-137644491, 137645696-137645705, 137645710, 137645719-137645742, 137646126-137646167, 137648631, 137650106-137650111, 137653787-137653805, 137655579-137655583, 137664648, 137674524-137674566, 137686948, 137688250-137688256, 137693820-137693826, 137705829, 137705837-137705856, 137709631-137709646, 137710550-137710593, 137710731-137710747, 137726914-137726916, 137726944-137726945
707LHX390.548387096774195461209139089181-139089226, 139089246-139089357, 139089393-139089394, 139089397-139089401, 139089415-139089427, 139089459-139089472, 139089506, 139089563-139089578, 139090498-139090502, 139090521-139090529, 139090532, 139090554-139090572, 139090599-139090611, 139090639-139090655, 139090759-139090810, 139090820-139090869, 139090876-139090905, 139091524-139091570, 139094792-139094885
708INPP5E90.484754521963829971935139324737, 139326276-139326344, 139326365-139326412, 139326421-139326437, 139326933-139326937, 139326959-139326961, 139327008-139327038, 139327408-139327442, 139327494-139327505, 139327607, 139327631-139327642, 139327654, 139327662, 139327697-139327710, 139327729-139327731, 139328489-139328516, 139328535-139328553, 139329192-139329211, 139329218-139329263, 139329306-139329311, 139333060-139333066, 139333136, 139333139, 139333156-139333174, 139333186-139333241, 139333266, 139333282-139333357, 139333366-139333472, 139333485-139333540, 139333551, 139333565-139333567, 139333575-139333871
709NOTCH190.09989567031820669027668139390523-139390627, 139390634-139390665, 139390685-139390730, 139390744, 139390755-139390800, 139390808, 139390824-139391106, 139391113-139391264, 139391280-139391689, 139391710-139391884, 139391904-139391909, 139391935, 139391938-139392010, 139393374-139393448, 139393564-139393611, 139393625-139393711, 139395004-139395175, 139395188-139395299, 139396200-139396365, 139396453-139396492, 139396510-139396529, 139396724-139396839, 139396859-139396916, 139396928-139396940, 139397634-139397650, 139397677-139397678, 139397726-139397749, 139397762-139397766, 139397776-139397782, 139399125-139399149, 139399157-139399239, 139399262-139399323, 139399344-139399455, 139399461-139399556, 139399762-139399931, 139399945-139400333, 139400995-139400996, 139401000-139401057, 139401070-139401091, 139401168-139401242, 139401264, 139401273-139401363, 139401377-139401425, 139401757-139401812, 139401823-139401849, 139401885-139401889, 139402408-139402413, 139402423-139402542, 139402548-139402591, 139402684-139402698, 139402702-139402736, 139402746-139402760, 139402791-139402837, 139403322-139403337, 139403352-139403523, 139404185-139404231, 139404243-139404331, 139404342-139404346, 139404349, 139404352, 139404355, 139404371-139404413, 139405105-139405134, 139405151-139405257, 139405608-139405637, 139405643-139405646, 139405657-139405723, 139407473-139407586, 139407844-139407888, 139407897-139407945, 139407960-139407989, 139408962-139409038, 139409058-139409065, 139409068-139409070, 139409080-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411775, 139411793-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438546, 139438554, 139440178-139440238
710AGPAT290.17323775388292692837139568204-139568264, 139568277-139568320, 139568331-139568360, 139568378-139568379, 139569206-139569210, 139569220, 139569231-139569259, 139571037-139571045, 139571051-139571061, 139571070-139571076, 139571092-139571132, 139571414-139571486, 139571492-139571518, 139571527-139571588, 139571875-139571909, 139571921-139571965, 139571977-139572004, 139581628-139581809
711SLC34A390.35511611800140126162, 140126218, 140126554, 140127033-140127070, 140127123, 140127138-140127155, 140127236-140127252, 140127270-140127277, 140127281, 140127290-140127322, 140127337-140127366, 140127467-140127469, 140127525-140127534, 140127562, 140127661-140127675, 140127678, 140127709-140127750, 140127787-140127820, 140127830-140127832, 140127837-140127850, 140128085-140128087, 140128089-140128112, 140128121-140128166, 140128315-140128393, 140128561-140128728, 140128868-140128969, 140129059-140129081, 140129091, 140129096-140129097, 140129108-140129148, 140130404-140130410, 140130429-140130786, 140130796, 140130799, 140130828-140130833, 140130842-140130868
712EHMT190.815242494226337203897140513481-140513501, 140605425-140605462, 140605482, 140611078-140611634, 140622880-140622882, 140622909, 140622972, 140637823-140637824, 140638521-140638529, 140669599-140669602, 140669612, 140669691-140669697, 140671235-140671260, 140728897-140728900, 140728942-140728976, 140729276-140729277, 140729287, 140729326, 140729329-140729332, 140729404-140729405
713SHOXX0.57792946530148371879591633-591801, 591826-591857, 591879-591909, 595365-595368, 595371, 595401-595412, 595429-595475, 595484-595558
714CSF2RAX0.6597701149425344413051401601, 1404671-1404712, 1404787-1404803, 1409318-1409340, 1413221-1413302, 1413312-1413354, 1414320-1414324, 1414335, 1419384, 1419389-1419405, 1419429-1419519, 1422158, 1422173-1422204, 1422213-1422253, 1422816-1422828, 1422868, 1422882-1422912, 1424413-1424414
715ARSEX0.99943502824859117702852915
716KAL1X0.959373470386698320438699937-8699949, 8699968-8700011, 8700028-8700052, 8700073
717GPR143X0.985882352941181812759733695-9733712
718PHKA2X0.999730312837111370818912467
719SMSX0.9554950045413349110121958943-21958991
720ARXX0.90645352279455158168925031432, 25031442-25031490, 25031522, 25031527-25031557, 25031648, 25031651, 25031653-25031702, 25031712-25031728, 25031777-25031779, 25031781-25031784
721RPGRX0.76438276958659815345938144821-38144827, 38144853-38144879, 38144952, 38144955-38144965, 38144997-38144998, 38145057-38145081, 38145158-38145188, 38145213-38145756, 38145776-38145796, 38145800, 38145820, 38145834-38145849, 38145869-38145873, 38145875-38145886, 38145932-38145937, 38145950-38145955, 38145961, 38145970, 38145982-38145998, 38146079, 38146168-38146206, 38146260-38146265, 38146297-38146299, 38146387-38146399, 38147152-38147158, 38147222-38147230, 38150227-38150228
722TSPAN7X0.99333333333333575038420800-38420804
723BCORX0.998861047835996526839922083, 39923045-39923047, 39933709-39933710
724ATP6AP2X0.999050332383671105340440318
725NYXX0.67150760719225475144641332748-41332763, 41332792-41332833, 41332952-41332959, 41333012-41333015, 41333039-41333062, 41333090, 41333101-41333107, 41333114, 41333159, 41333165-41333175, 41333205-41333248, 41333262-41333304, 41333323-41333374, 41333402-41333436, 41333442-41333515, 41333536-41333560, 41333657-41333660, 41333692-41333728, 41333740-41333765, 41333938-41333940, 41333966-41333975, 41333993-41333995, 41334044-41334047
726FTSJ1X0.99292929292929799048341124-48341130
727SYPX0.99893842887473194249048084
728CACNA1FX0.9868554095045578593449061713, 49061727, 49063023, 49063036-49063059, 49063069-49063073, 49063191-49063213, 49065116-49065120, 49065828, 49065831, 49066219, 49066444, 49066457, 49067103-49067114, 49067141
729SMC1AX0.998649378714215370253436126-53436130
730FGD1X0.99653499653510288654494255-54494258, 54521738-54521743
731ARX0.9923995656894721276366765158-66765170, 66766359-66766362, 66766374, 66766377, 66766389-66766390
732MED12X0.999540863177233653470361098-70361100
733TAF1X0.9887363604364764568270586180-70586242, 70586291
734SLC16A2X0.997285559174815184273641404, 73641409-73641411, 73744543
735BRWD3X0.999630245886492540980064952, 80064962
736PCDH19X0.95674531155475143330699662731-99662749, 99663140-99663143, 99663181-99663183, 99663311-99663358, 99663434-99663467, 99663495-99663497, 99663564-99663595
737CUL4BX0.99562363238512122742119694223-119694230, 119694354-119694357
738ZIC3X0.99216524216524111404136648985-136648990, 136651133-136651136, 136651145
739SOX3X0.96271439224459501341139585996-139585997, 139586147-139586149, 139586303-139586306, 139586467-139586468, 139586478-139586514, 139586868, 139586871
740NSDHLX0.9991087344028511122152036166
741FAM58AX0.9183673469387860735152864420-152864424, 152864449-152864452, 152864456-152864480, 152864483-152864490, 152864504-152864521
742SLC6A8X0.679245283018876121908152954030-152954291, 152955845-152955894, 152956782-152956794, 152956958-152956987, 152958496-152958502, 152958718-152958720, 152958938-152958939, 152959384-152959399, 152959459-152959472, 152959642-152959651, 152959688-152959690, 152959695-152959710, 152959800-152959848, 152959896, 152959900, 152959988-152959991, 152959999, 152960018, 152960076-152960088, 152960199, 152960203-152960205, 152960229-152960274, 152960282-152960325, 152960532-152960553
743ABCD1X0.610366398570158722238152990722-152990774, 152990779-152990805, 152990824-152990865, 152990873, 152990876-152990919, 152990932-152990933, 152990938-152990939, 152990964-152991028, 152991034, 152991069-152991091, 152991107-152991131, 152991157-152991175, 152991189-152991263, 152991271, 152991274, 152991305, 152991317-152991356, 152991376-152991497, 152991526, 152991530-152991536, 152991542-152991548, 152991573-152991621, 153001566-153001570, 153001614, 153001685-153001699, 153001802, 153001909-153001926, 153002637-153002644, 153005672-153005691, 153006076, 153006141, 153008471-153008502, 153008516-153008525, 153008675-153008678, 153008776-153008791, 153008959-153008987, 153009003-153009050, 153009083, 153009086-153009093, 153009115-153009159, 153009178
744L1CAMX0.929252782193962673774153128996-153129004, 153129441-153129470, 153130103, 153130146, 153130345-153130346, 153130552, 153130555, 153130560-153130563, 153130593-153130603, 153133312-153133320, 153133502-153133503, 153133785, 153133805, 153135047-153135048, 153135107-153135118, 153135273-153135314, 153135359-153135371, 153135511-153135541, 153135554-153135556, 153135603-153135609, 153135843-153135849, 153135902-153135903, 153136512-153136522, 153136569-153136579, 153136599, 153136602, 153141229-153141236, 153141249-153141291
745AVPR2X0.9946236559139861116153171704, 153171745, 153172050-153172052, 153172090
746MECP2X0.95925183700735611497153297867-153297868, 153297871, 153297876-153297878, 153363061-153363114, 153363122
747OPN1MWX0.98173515981735201095153455583-153455601, 153458983
748OPN1MWX0.98082191780822211095153492701-153492719, 153496101, 153496198
749FLNAX0.6101460221550930977944153577280-153577295, 153577339-153577340, 153577384-153577388, 153577730-153577735, 153577743-153577745, 153577767-153577787, 153577808-153577821, 153577886, 153577923, 153578036, 153578055, 153578061, 153578127, 153578143, 153578426-153578427, 153578430-153578436, 153578449, 153578461-153578503, 153578526-153578528, 153578539-153578541, 153578547, 153578553, 153579300-153579315, 153579404-153579409, 153579964-153579984, 153580314-153580316, 153580328, 153580341, 153580344, 153580375, 153580585-153580607, 153580664-153580709, 153580774-153580808, 153580924-153580933, 153580957-153580962, 153580969-153580972, 153580977, 153580984, 153581036-153581043, 153581140-153581141, 153581145-153581147, 153581159-153581181, 153581370, 153581415-153581438, 153581471, 153581502, 153581506-153581518, 153581539-153581542, 153581545-153581570, 153581679-153581683, 153581686-153581689, 153581699-153581755, 153581783, 153581791-153581795, 153581805-153581825, 153582355-153582394, 153582552-153582553, 153582599-153582600, 153582637-153582659, 153582749-153582785, 153582823-153582851, 153582987-153583016, 153583033-153583060, 153583067-153583079, 153583194, 153583221-153583227, 153583239-153583263, 153583299, 153583334-153583346, 153583390-153583399, 153583403-153583406, 153583414-153583425, 153585803, 153585818-153585860, 153585870-153585876, 153585928-153585935, 153586581-153586583, 153586610-153586616, 153586621-153586622, 153586641-153586665, 153586813-153586821, 153586839-153586844, 153586936, 153587475-153587476, 153587479-153587505, 153587614-153587633, 153587662-153587674, 153587682, 153587686, 153587690-153587699, 153587749-153587774, 153587852, 153587878-153587894, 153587915-153587936, 153587946-153587990, 153588100-153588159, 153588183-153588250, 153588257-153588258, 153588265-153588273, 153588361-153588423, 153588445-153588523, 153588536-153588581, 153588594, 153588603-153588624, 153588646, 153588664-153588698, 153588708-153588715, 153588763-153588764, 153588768-153588769, 153588772-153588773, 153588778, 153588827-153588832, 153588852, 153588855-153588884, 153588898-153588913, 153588916-153588918, 153588942-153588955, 153589676-153589788, 153589807-153589829, 153589843-153589846, 153590038, 153590068-153590070, 153590149-153590155, 153590353, 153590360, 153590371, 153590402-153590450, 153590479-153590481, 153590610-153590611, 153590626, 153590634-153590637, 153590655-153590681, 153590699-153590700, 153590808, 153590817-153590871, 153590892-153590899, 153590904-153590915, 153590920-153590921, 153590927-153590946, 153591029-153591041, 153591067-153591097, 153592390-153592409, 153592420, 153592444-153592467, 153592489-153592509, 153592520-153592521, 153592532, 153592663-153592672, 153592686-153592695, 153592705, 153592920, 153592932-153592979, 153593002-153593014, 153593023, 153593037-153593038, 153593055-153593087, 153593212, 153593221-153593222, 153593225-153593246, 153593280-153593281, 153593295-153593303, 153593510, 153593513-153593514, 153593530-153593531, 153593534-153593535, 153593541, 153593546-153593550, 153593591, 153593600-153593627, 153593717-153593719, 153593730-153593736, 153593764-153593802, 153593813-153593849, 153594392-153594435, 153594443, 153594451-153594452, 153594459, 153594465-153594474, 153594489, 153594497, 153594508-153594509, 153594512-153594516, 153594519, 153594542-153594591, 153594679, 153594687-153594692, 153594697-153594698, 153594764-153594776, 153594807-153594838, 153594946-153594958, 153594994-153594996, 153595100-153595143, 153595206-153595218, 153595765-153595771, 153595787-153595795, 153595840, 153595886-153595912, 153596009-153596056, 153596062, 153596065, 153596080, 153596092-153596101, 153596210-153596211, 153596224-153596264, 153596286-153596302, 153596342-153596392, 153596411, 153596420-153596424, 153599246-153599308, 153599338-153599613
750EMDX0.63790849673203277765153607850-153607866, 153607876, 153607880, 153607889-153607926, 153608050-153608098, 153608109, 153608115, 153608122-153608146, 153608306-153608318, 153608345, 153608363, 153608594-153608621, 153608632, 153608650-153608659, 153608700-153608703, 153609117-153609145, 153609357, 153609366, 153609369-153609370, 153609399, 153609428, 153609442-153609481, 153609516, 153609546-153609554, 153609557
751TAZX0.67427122940431257789153640181-153640289, 153640423-153640551, 153641586-153641589, 153641820, 153641831-153641835, 153641863-153641868, 153641886, 153641900, 153641903
752GDI1X0.99032738095238131344153665609, 153665613, 153665617, 153665621-153665627, 153665638-153665640
753G6PDX0.925518925518931221638153760215, 153760220, 153760267-153760274, 153760285-153760291, 153760302-153760305, 153760609-153760616, 153760631-153760654, 153760901, 153760910-153760911, 153760931, 153761197-153761224, 153761826, 153761838-153761840, 153761850-153761857, 153762367-153762368, 153762701-153762711, 153763479, 153764182-153764185, 153775042-153775048
754IKBKGX0.9965846994535551464153780381-153780384, 153788740
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhomozygous0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MYO1A-S797Fhet unknown0.005Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.813 (possibly damaging), Testable gene in GeneTests
2.5SLC7A9-Y232Chet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
2.5SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
2.5SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ATXN7-K264Rhomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
2ATXN7-V862Mhomozygous0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CASP10-V410Ihet unknown0.047Dominant
protective
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2LRP5-V667Mhet unknown0.041Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview
2LRP5-A1330Vhomozygous0.110Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-M523Thomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5ABCA4-G1961Ehet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
1.5ABCA4-Y850Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5BANK1-R61Hhomozygous0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5SFTPA1-R219Whet unknown0.085Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
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
1.5XYLT1-V839Ihet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
1.5XYLT1-A115Shet unknown0.017Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
1.5ZFPM2-E30Ghet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5ZFPM2-E782Dhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
1.125LDLRAP1-R238Whet unknown0.035Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
1LIG4-A3Vhet unknown0.036Dominant
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1EIF3F-P39Lhomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
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
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RAPSN-R205Qhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
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
1HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-T217Ihet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S214Nhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G102Rhomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Q85LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-N830Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-KF76RLhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-KF76RLhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MC4R-V103Ihet unknown0.016Unknown
protective
Low clinical importance,
uncertain
This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals.
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG8-R268Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CD3G-V131Fhomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-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
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1C5orf20-S135Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-K119Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZFYVE19-R48Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D107Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-R219Khomozygous0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADRA2B-G211Ahomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-I12Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1UMOD-V458Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DGKK-D1111Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-N453Shomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SPG7-T503Ahomozygous0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhomozygous0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-D3144Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-N3099Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.662 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-R2875Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-R2292Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-G713Rhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-L555Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1KISS1-*139ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5DHODH-A341Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOH-V266Lhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5APOH-S107Nhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ANKRD11-P2059Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ANKRD11-P1638Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.679 (possibly damaging)
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SREBF1-E1040Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SREBF1-Q1028Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZDHHC1-R124Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.905 (probably damaging)
0.5GPR179-K1150Ehet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-R884Whet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSI2-A283Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FHOD1-P533Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5KCNJ12-M71Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T142Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-L211Fhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KCNJ12-R261Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.837 (possibly damaging)
0.5KCNJ12-I262Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5CDH16-H257Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5B4GALNT2-R523Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MAPT-D285Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-V289Ahomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whomozygous0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-S447Phomozygous0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-Y2682Fhomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLFN13-E652Khet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-P635Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5SLFN13-Y14*het unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-L745Ihet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-G238Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC4A1-D38Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-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
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OXER1-L407Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5OXER1-M40Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
0.5EPN1-H39Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-G523Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EPN1-S575Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-V12Mhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-Y150Chet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PPP1R15A-A32Thet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCEE-R104Lhomozygous0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ST6GAL2-T392Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ST6GAL2-F30Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-D1223Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DYSF-R1349Lhet unknown0.025Unknown
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
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-L18Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1310-V681Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLEKHA4-R597Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5PLEKHA4-P533Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.777 (possibly damaging)
0.5HSD17B14-R130Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ALPK2-I2157Vhet unknown0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K1730Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ALPK2-A1551Shet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5ALPK2-P1449Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5ALPK2-H1174Phet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-EDTST1006Delhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-N916Khet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-S884Lhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ALPK2-K829Nhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5ALPK2-R825Thet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-G810Shet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ALPK2-H719Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.5ALPK2-R136Shet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACTL9-R271Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MAN2B1-R337Qhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ST6GALNAC1-I424Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.221 (possibly damaging)
0.5ST6GALNAC1-V80Ahet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC1-M659Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC13A-L1121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A447Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-E335Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELSPBP1-G61Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-R73Chet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-P185Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZBTB48-S675Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.711 (possibly damaging)
0.5SYNGR4-R27Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF546-S577Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ZNF546-P664Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATP5SL-E230Khet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP5SL-N34Shet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFYVE26-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
0.5ZFYVE26-S1040Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KAZALD1-G236Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging)
0.5KAZALD1-G255Ahet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KAZALD1-N277Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.069 (benign)
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-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STAMBPL1-E204Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.813Unknown
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-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V2280Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PPYR1-A99Shet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-R240Chet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.332 (possibly damaging)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5SLC29A3-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
0.5CHAT-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
0.5ZDHHC6-D41Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5TACC2-E1916Khet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5TACC2-G2730Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2732Thet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), 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
0.5OR5A1-I52Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.974 (probably damaging)
0.5OR5A1-D183Nhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5BTBD16-E231Khet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5BTBD16-R318Qhomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-G331Dhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM22-R242Thet unknown0.511Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5OLFML1-A259Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ECHDC3-S13Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-D162Nhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTAFR-N114Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhet unknown0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDA-K27Qhomozygous0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPG2-A4071Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTF2-K167Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5TTF2-K1134Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNPEP-K260Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
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
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BC127741-E39*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CGN-R485Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5CGN-Q638Ehet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PGLYRP4-G192Vhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PGLYRP4-Q92Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.719 (possibly damaging)
0.5PGLYRP4-I13Lhomozygous0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGR3A-F212Vhomozygous0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
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
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5LY75-K1347Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.895 (probably damaging)
0.5LY75-K1321Nhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-P1247Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5LY75-D807Ehet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-W766*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5PTGDR-R332Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.905 (probably 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
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRKD1-H891Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP19A1-T201Mhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO5C-R172Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
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
0.5FBN1-C472Yhomozygous1.000Unknown
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
0.5GALC-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
0.5CHGA-G382Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SERPINA9-T57Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SERPINA9-A42Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-N371Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNB3-G272Shet unknown0.053Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5GYS2-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-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-V1565Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5KIAA1731-R208Qhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1731-A499Ehomozygous0.941Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KIAA1731-Q1285Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KIAA1731-E2173Ahet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.26 (possibly damaging)
0.5KIAA1731-E2437Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL2-S4010Phet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-R83Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATF1-P191Ahet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SACS-V3369Ahomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GOLGA3-K1185Rhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5GOLGA3-P264Lhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5GOLGA3-G70Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDX54-P822Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5TMEM132C-H49Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-V160Ihet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-S282Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TMEM132C-T618Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM132C-G698Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5CARD8-V43Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CARD8-C10*het unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-R29Phet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZFP57-R187Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5MRS2-I46Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MRS2-P412Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-P182Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K3729Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhomozygous0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chomozygous0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA4-G1117Shet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-Y498Hhomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-A283Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA4-R154Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5AIM1-C491Rhomozygous0.218Unknown
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)
0.5COL11A2-E276Khomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RARS2-V235Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEATR7B2-D1529Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-F890Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HEATR7B2-R526Hhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.947 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-E468Vhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.025 (benign)
0.5HEATR7B2-W191Rhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-M11Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
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-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5RAD1-G114Dhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR2-P631Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM161B-V383Ihet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T4591Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LECT2-G63Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LECT2-I58Vhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR36-A449Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-E1438Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-P326Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-C16Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSCA-W118*het unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZC3H3-P857Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5IFNA16-IA132TPhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA16-T124Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA16-D95Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.726 (possibly damaging)
0.5IFNA16-V65Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA16-I47Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5IFNA17-I184Rhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA17-H57Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CSF2RA-R164Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging), Testable gene in GeneTests
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAGEE2-E120*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ATP7A-V767Lhet unknown0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FRMD7-R468Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FRMD7-S281Lhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OGT-H364Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OGT-LA367C*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5OGT-S369Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CACNA1F-R1930Hhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAGEB6-R98Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.766 (possibly damaging)
0.5MAGEB6-A100Vhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTC-K46Rhet unknown0.294Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5OTC-Q270Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027444-W159Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM24-N796Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIP6-R111Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRB10-P90Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTR5A-P15Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBN-E185Qhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MATN2-K356Ehet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MATN2-V932Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5LRRCC1-H69Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRCC1-T210Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARHGEF10-L370Fhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARHGEF10-V700Ihet 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-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-T138Nhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-S186Nhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LY96-R56Ghomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY96-P157Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5CHD7-R1945Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHD7-L2984Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2Y1-V200Lhomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.784 (possibly damaging)
0.5OR2Y1-V154Mhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HIC2-P362Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-Q2361Rhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-E276Khomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SON-T694Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5SON-S1202Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SON-R1575Chet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SON-A2413Shifthomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5SON-R2416Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HTT-A231Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOBEC3B-S109Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5APOBEC3B-T146Khomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-V1058Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-Q732Khet unknown0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihet unknown0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SIDT1-G3Shet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIDT1-P32Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SIDT1-Y602Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNOT10-T348Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.478 (possibly damaging)
0.5CCR5-V131Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5SIGLEC1-L1657LLLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SIGLEC1-A974Vhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SIGLEC1-H919Phet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC1-R464Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIGLEC1-K239Rhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC1-V221Mhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5GPRIN3-P390Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5GPRIN3-L39Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH7-R3983Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-M879Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5DNAH7-R545Chet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1715-T159Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.426 (possibly damaging)
0.5PDE11A-S921SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE11A-R804Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PDE11A-R184Qhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHRNG-A149Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SAG-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
0.5CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-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-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
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
0.5STK36-L462Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5STK36-R583Qhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-G1003Dhet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.375DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.375DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.375DOCK8-E237Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.375ACADS-M370Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL1A2-R708Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NPHS1-R972Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-N226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
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-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-H305Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.318 (possibly damaging)
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASXL1-G645Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASXL1-L814Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), 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-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLN3-H404Rhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PALB2-Q559Rhet unknown0.135Unknown
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
0.25ZNF710-RDG196GPHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF710-F199*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25LRRC56-E160*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LRRC56-EG168AVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25FLVCR2-V16Ahet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25FLVCR2-P279Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GVINP1-I953Thet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-Q659Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GVINP1-L621Phomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-M483Vhomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-D321Nhet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SLC28A1-L140LVhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25NM_001080826-G1222Shomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-A1111Thet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-S576Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001080826-P567Lhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-R402Qhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P1065Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-L1036Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A863Vhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACSF3-L2Phet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACSF3-E359Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACSF3-V372Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25RPGR-E813Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25RPGR-A781Thet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GBP7-H432Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBP7-T14Ihomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CSF3R-S469Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CSF3R-D320Nhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25TNFRSF1B-E232Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATRX-Q929Ehet unknown0.509Unknown
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
0.25WWOX-A179Thet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25WWOX-P282Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.25WWOX-Q412*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BC037579-S310Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BC037579-P307Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P305Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-H65Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FCRL6-R123*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FCRL6-Q423*het unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25FCRL6-S427Ghet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTCH1-R1350Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTCH1-P1315Lhet unknown0.296Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-V304Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign), Testable gene in GeneTests
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RPRD2-M351Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25RPRD2-A535Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PLA2G4C-P298Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLA2G4C-S203Phet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLA2G4C-I143Vhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25AK309191-E78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK309191-S129Phet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-D290Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.25EYS-L1748Fhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
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
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STAB1-M912Vhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STAB1-A1731Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STAB1-NG2261KRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25STAB1-I2282Vhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-V495Ihet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL6A5-E455Khet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A5-D982Ghet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.25COL6A5-V1276Ihet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.334 (possibly damaging)
0.25COL6A5-T1280Phet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.93 (probably damaging)
0.25COL6A5-C1477Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A5-S1589Phet unknown0.687Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A5-Q2188Rhet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25COL6A5-G2205Dhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A5-E2272*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL6A5-Y2438Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LMO7-L29Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LMO7-M1162Thomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
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
0.25TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BTNL9-Q68Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BTNL9-EG162DRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BTNL9-L171Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BTNL9-L208Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA3-C99Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhet unknown0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25MUS81-A32Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUS81-R37Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.25MUS81-R180Phomozygous0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARAP1-Q1047Ehomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.294 (possibly damaging)
0.25ARAP1-T1044Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AKAP9-E342EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C17orf57-V312IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25GIPR-W297*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GIPR-E354Qhet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.25HPS4-Q620Hhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25MUC3A-M6Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-I26Thet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T31TThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC3A-T33Ahet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T38Mhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A48Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T57Mhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T75Khet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-V77Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-V82Fhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T98Ihet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S157Ahet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-G182Ahet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A190Shet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S196Phet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T270Shet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-I274Mhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-M288Thet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S296Ihet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S329Nhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-L334Thet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T370Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC3A-R393Phet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-Q397Whet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-E602Ahet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-A655Thet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC3A-H752Nhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MLC1-C171Fhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (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
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-N627Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.25ICAM1-V330Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA1683-P835Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1683-Y648Fhet unknown0.510Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1683-A614Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1683-T610Phet unknown0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1683-T524Ahet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1683-M359Thet unknown0.511Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1683-S285Thet unknown0.510Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1683-L235Vhet unknown0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1683-L44Phet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0FLT4-W1005Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,730,353,546 bases (96.4% of callable positions, 90.3% of total positions)

Coding region coverage: 31,242,225 bases (94.1% of all genes, 95.2% 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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