Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-8756892-A-G p.Thr195Thr synonymous AICDA 117 82788 0.00141325 41394 1 0.00553877
12-8756901-T-G p.Ala192Ala synonymous AICDA 1 82800 1.20773E-5 41400 0 4.96944E-5
12-8756920-A-G p.Val186Ala missense AICDA 1 82742 1.20858E-5 41371 0 NA
12-8756936-G-A c.544-3C>T splice_region AICDA 1 82546 1.21145E-5 41273 0 NA
12-8756937-T-C c.544-4A>G splice_region AICDA 1 82524 1.21177E-5 41262 0 NA
12-8757418-A-G p.Leu176Leu synonymous AICDA 1 82842 1.20712E-5 41421 0 NA
12-8757419-A-C p.Leu176Arg missense AICDA 1 82844 1.20709E-5 41422 0 NA
12-8757423-G-C p.Gln175Glu missense AICDA 3 82898 3.61891E-5 41449 0 NA
12-8757424-T-C p.Arg174Arg synonymous AICDA 1 82910 1.20613E-5 41455 0 2.49842E-5
12-8757429-A-C p.Ser173Ala missense AICDA 1 82944 1.20563E-5 41472 0 8.32612E-6
12-8757442-A-G p.Asn168Asn synonymous AICDA 1 82926 1.20589E-5 41463 0 NA
12-8757448-A-G p.His166His synonymous AICDA 1 82934 1.20578E-5 41467 0 NA
12-8757474-TTC-T p.Arg157fs frameshift AICDA 1 82860 1.20685E-5 41430 0 NA
12-8757478-T-C p.Glu156Glu synonymous AICDA 4 82800 4.83092E-5 41400 0 5.04541E-4
12-8757481-G-A p.His155His synonymous AICDA 46596 80826 0.576498 40413 13905 0.596958
12-8757481-GT-AC p.His155Arg missense AICDA 1 82730 1.20875E-5 41365 0 NA
12-8757489-C-G c.428-1G>C splice_acceptor AICDA 5 82562 6.05605E-5 41281 0 4.05765E-6
12-8757490-T-C c.428-2A>G splice_acceptor AICDA 2 82398 2.42724E-5 41199 0 4.91957E-5
12-8757503-C-T p.Trp148* stop_gained AICDA 1 82082 1.21829E-5 41041 0 NA
12-8757505-G-T p.Cys147* stop_gained AICDA 1 81854 1.22169E-5 40927 0 8.39884E-6
12-8757509-T-A p.Tyr146Phe missense AICDA 3 81262 3.69176E-5 40631 0 2.80844E-5
12-8757515-T-A p.Tyr144Phe missense AICDA 20 79986 2.50044E-4 39993 0 0.264975
12-8757519-C-A c.428-1G>T splice_acceptor AICDA 1 80470 1.2427E-5 40235 0 7.49064E-5
12-8757521-T-TA c.428-4_428-3insT splice_region AICDA 26 79236 3.28134E-4 39618 0 0.00732651
12-8757521-T-TAA c.428-4_428-3insTT splice_region AICDA 5 79390 6.29802E-5 39695 0 1.98014E-4
12-8757522-C-CA c.428-5dupT splice_region AICDA 32558 62158 0.523794 31079 6425 0.861603
12-8757522-C-CAA c.428-6_428-5dupTT splice_region AICDA 2357 79330 0.0297113 39665 68 0.0625585
12-8757522-C-CAAA c.428-7_428-5dupTTT splice_region AICDA 82 79628 0.00102979 39814 0 0.00128819
12-8757522-CA-C c.428-5delT splice_region AICDA 116 79352 0.00146184 39676 0 0.0156639
12-8757522-C-A c.428-4G>T splice_region AICDA 65 79494 8.17672E-4 39747 0 0.00942574
12-8757522-CAA-C c.428-6_428-5delTT splice_region AICDA 6 79626 7.53523E-5 39813 0 4.48252E-4
12-8757522-C-CAAAA c.428-8_428-5dupTTTT splice_region AICDA 7 79640 8.78955E-5 39820 0 NA
12-8757522-C-CAAAAAA c.428-10_428-5dupTTTTTT splice_region AICDA 2 79640 2.5113E-5 39820 0 NA
12-8757803-T-C c.427+8A>G splice_region AICDA 2 81978 2.43968E-5 40989 0 8.81694E-6
12-8757807-G-A c.427+4C>T splice_region AICDA 68 81994 8.29329E-4 40997 0 9.55657E-4
12-8757817-A-G p.Phe141Leu missense AICDA 2 82368 2.42813E-5 41184 0 NA
12-8757820-T-C p.Thr140Ala missense AICDA 1 82420 1.2133E-5 41210 0 5.23359E-5
12-8757822-A-G p.Met139Thr missense AICDA 2 82516 2.42377E-5 41258 0 1.91144E-4
12-8757839-C-G p.Gly133Gly synonymous AICDA 2 82630 2.42043E-5 41315 0 3.18695E-5
12-8757840-C-T p.Gly133Glu missense AICDA 2 82614 2.4209E-5 41307 0 NA
12-8757841-C-T p.Gly133Arg missense AICDA 1 82624 1.2103E-5 41312 0 NA
12-8757842-G-A p.Ala132Ala synonymous AICDA 1 82654 1.20986E-5 41327 0 1.72966E-5
12-8757851-C-T p.Leu129Leu synonymous AICDA 1 82702 1.20916E-5 41351 0 8.63289E-6
12-8757859-G-T p.Arg127Arg synonymous AICDA 21 82884 2.53366E-4 41442 0 3.8236E-4
12-8757864-C-T p.Gly125Glu missense AICDA 2 82958 2.41086E-5 41479 0 8.52065E-6
12-8757868-C-T p.Glu124Lys missense AICDA 1 82986 1.20502E-5 41493 0 8.51122E-6
12-8757869-G-A p.Pro123Pro synonymous AICDA 85 82984 0.00102429 41492 0 0.0015615
12-8757883-G-A p.Arg119Cys missense AICDA 1 83048 1.20412E-5 41524 0 8.44124E-6
12-8757900-A-G p.Leu113Pro missense AICDA 1 83108 1.20325E-5 41554 0 4.01239E-6
12-8757902-G-A p.Arg112Arg synonymous AICDA 8 83092 9.62788E-5 41546 0 5.8713E-5
12-8757905-C-T p.Ala111Ala synonymous AICDA 1 83104 1.20331E-5 41552 0 1.27429E-4
12-8757909-G-A p.Thr110Ile missense AICDA 1 83146 1.2027E-5 41573 0 8.35003E-6
12-8757916-T-G p.Ile108Leu missense AICDA 3 83166 3.60724E-5 41583 0 8.33625E-6
12-8757936-T-C p.Asn101Ser missense AICDA 1 83210 1.20178E-5 41605 0 NA
12-8757939-C-G p.Gly100Ala missense AICDA 75 83224 9.01182E-4 41612 0 0.00117857
12-8757944-C-T p.Leu98Leu synonymous AICDA 1 83222 1.20161E-5 41611 0 3.18492E-5
12-8757963-C-T p.Arg92Gln missense AICDA 1 83220 1.20163E-5 41610 0 NA
12-8757964-G-A p.Arg92* stop_gained AICDA 1 83216 1.20169E-5 41608 0 NA
12-8757966-G-A p.Ala91Val missense AICDA 1 83222 1.20161E-5 41611 0 4.00805E-6
12-8757971-G-A p.Asp89Asp synonymous AICDA 112 83222 0.0013458 41611 4 0.00308898
12-8757978-C-G p.Cys87Ser missense AICDA 4 83186 4.8085E-5 41593 0 3.1841E-5
12-8757979-A-G p.Cys87Arg missense AICDA 3 83178 3.60672E-5 41589 0 8.29352E-6
12-8757984-C-T p.Ser85Asn missense AICDA 1 83160 1.2025E-5 41580 0 8.29284E-6
12-8757992-G-T p.Thr82Thr synonymous AICDA 1 83130 1.20294E-5 41565 0 NA
12-8758010-G-A p.Tyr76Tyr synonymous AICDA 2 83024 2.40894E-5 41512 0 4.00953E-6
12-8758024-G-T p.Pro72Thr missense AICDA 2 82952 2.41103E-5 41476 0 NA
12-8758025-G-A p.Asp71Asp synonymous AICDA 1 82958 1.20543E-5 41479 0 1.65843E-5
12-8758028-T-C p.Leu70Leu synonymous AICDA 803 82926 0.00968333 41463 11 0.00975287
12-8758028-TA-T p.Leu70fs frameshift AICDA 1 82946 1.2056E-5 41473 0 NA
12-8758030-G-T p.Leu70Ile missense AICDA 1 82946 1.2056E-5 41473 0 NA
12-8758032-T-A p.Asp69Val missense AICDA 1 82890 1.20642E-5 41445 0 NA
12-8758035-C-T p.Trp68* stop_gained AICDA 1 82892 1.20639E-5 41446 0 NA
12-8758043-G-A p.Ile65Ile synonymous AICDA 4 82848 4.82812E-5 41424 0 3.61414E-5
12-8758046-G-A p.Tyr64Tyr synonymous AICDA 1 82832 1.20726E-5 41416 0 NA
12-8758049-G-C p.Arg63Arg synonymous AICDA 7 82776 8.45656E-5 41388 0 2.86661E-4
12-8758049-G-A p.Arg63Arg synonymous AICDA 1 82776 1.20808E-5 41388 0 1.65992E-5
12-8758050-C-T p.Arg63His missense AICDA 2 82750 2.41692E-5 41375 0 6.25E-4
12-8758059-A-G p.Leu60Pro missense AICDA 1 82800 1.20773E-5 41400 0 4.0201E-6
12-8758072-G-A p.His56Tyr missense AICDA 2 82646 2.41996E-5 41323 0 NA
12-8758085-G-C c.157-4C>G splice_region AICDA 5 82486 6.06163E-5 41243 0 3.33145E-5
12-8758086-A-G c.157-5T>C splice_region AICDA 2 82462 2.42536E-5 41231 0 6.36983E-5
12-8759463-T-C p.Lys52Glu missense+splice_region AICDA 1 83350 1.19976E-5 41675 0 NA
12-8759467-G-T p.Arg50Arg synonymous AICDA 6 83368 7.19701E-5 41684 0 1.91107E-4
12-8759494-G-C p.Ser41Ser synonymous AICDA 1 83384 1.19927E-5 41692 0 4.00673E-6
12-8759501-GCACTGT-G p.Asp37_Ser38del disruptive_inframe_deletion AICDA 3 83384 3.59781E-5 41692 0 NA
12-8759511-G-A p.Arg36Cys missense AICDA 2 83388 2.39843E-5 41694 0 3.18492E-5
12-8759524-G-A p.Tyr31Tyr synonymous AICDA 2 83384 2.39854E-5 41692 0 1.20206E-5
12-8759543-C-T p.Arg25His missense AICDA 87 83380 0.00104342 41690 1 0.00254777
12-8759544-G-A p.Arg25Cys missense AICDA 1 83376 1.19939E-5 41688 0 4.00712E-6
12-8759559-A-T p.Trp20Arg missense AICDA 1 83374 1.19941E-5 41687 0 NA
12-8759562-G-A p.Arg19Cys missense AICDA 1 83374 1.19941E-5 41687 0 NA
12-8759569-T-C p.Lys16Lys synonymous AICDA 81 83370 9.71573E-4 41685 0 0.00121035
12-8759574-A-G p.Phe15Leu missense AICDA 1 83368 1.1995E-5 41684 0 NA
12-8759578-G-A p.Tyr13Tyr synonymous AICDA 1 83366 1.19953E-5 41683 0 NA
12-8759588-T-C p.Lys10Arg missense AICDA 1 83364 1.19956E-5 41682 0 8.84345E-6
12-8759594-C-T p.Arg8Gln missense AICDA 1 83350 1.19976E-5 41675 0 6.36821E-5
12-8759595-G-A p.Arg8Trp missense AICDA 7 83340 8.39933E-5 41670 0 7.23659E-5
12-8759601-T-G p.Met6Leu missense AICDA 1 83326 1.20011E-5 41663 0 NA
12-8759604-A-G p.Leu5Leu synonymous AICDA 1 83310 1.20034E-5 41655 0 NA
12-8759615-G-T c.9-7C>A splice_region AICDA 2 83270 2.40183E-5 41635 0 1.21387E-5
12-8765358-G-C p.Asp2Glu missense+splice_region AICDA 2 83340 2.39981E-5 41670 0 NA
12-8765362-A-G p.Met1? start_lost AICDA 1 83344 1.19985E-5 41672 0 NA
12-8765375-G-C c.-12C>G 5_prime_UTR_premature_start_codon_gain AICDA 1 83342 1.19988E-5 41671 0 NA
12-8765428-T-C c.-65A>G 5_prime_UTR_premature_start_codon_gain AICDA 3 83054 3.61211E-5 41527 0 NA
12-8765447-T-C c.-84A>G 5_prime_UTR_premature_start_codon_gain AICDA 46873 47066 0.995899 23533 23343 0.998125