Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-44069581-C-T c.-6C>T 5_prime_UTR_premature_start_codon_gain ACCSL 6 79600 7.53769E-5 39800 0 1.59327E-4
11-44069589-G-A p.Met1? start_lost ACCSL 418 80338 0.00520302 40169 5 0.0126849
11-44069593-C-T p.His3Tyr missense ACCSL 1 80632 1.2402E-5 40316 0 NA
11-44069596-C-T p.Arg4Trp missense ACCSL 4 80798 4.95062E-5 40399 0 9.56206E-5
11-44069597-G-A p.Arg4Gln missense ACCSL 3 80830 3.71149E-5 40415 0 3.22862E-5
11-44069597-G-T p.Arg4Leu missense ACCSL 3 80830 3.71149E-5 40415 0 NA
11-44069598-G-A p.Arg4Arg synonymous ACCSL 5 80996 6.17314E-5 40498 0 6.37308E-5
11-44069608-C-A p.Leu8Ile missense ACCSL 1 81466 1.22751E-5 40733 0 NA
11-44069610-T-C p.Leu8Leu synonymous ACCSL 5 81522 6.13331E-5 40761 0 6.3743E-5
11-44069614-G-A p.Val10Met missense ACCSL 1 81626 1.2251E-5 40813 0 8.04712E-6
11-44069615-T-A p.Val10Glu missense ACCSL 1 81666 1.2245E-5 40833 0 3.21844E-5
11-44069617-C-T p.Pro11Ser missense ACCSL 7 81686 8.5694E-5 40843 0 3.33895E-5
11-44069618-C-A p.Pro11His missense ACCSL 3 81722 3.67098E-5 40861 0 3.18634E-5
11-44069638-C-T p.Arg18Trp missense ACCSL 1 82008 1.21939E-5 41004 0 8.0393E-6
11-44069639-G-A p.Arg18Gln missense ACCSL 1 82014 1.2193E-5 41007 0 3.18634E-5
11-44069650-G-T p.Asp22Tyr missense ACCSL 1 82094 1.21812E-5 41047 0 NA
11-44069656-A-G p.Ser24Gly missense ACCSL 1 82158 1.21717E-5 41079 0 1.20529E-5
11-44069657-G-A p.Ser24Asn missense ACCSL 1 82124 1.21767E-5 41062 0 NA
11-44069663-A-T p.Tyr26Phe missense ACCSL 1 82150 1.21729E-5 41075 0 NA
11-44069685-G-A p.Thr33Thr synonymous ACCSL 1 82050 1.21877E-5 41025 0 4.01752E-6
11-44069708-C-T p.Thr41Met missense ACCSL 20 81986 2.43944E-4 40993 0 4.14197E-4
11-44069713-C-T p.His43Tyr missense ACCSL 1 81988 1.21969E-5 40994 0 8.03523E-6
11-44069718-C-T p.Phe44Phe synonymous ACCSL 5 82046 6.09414E-5 41023 0 3.32143E-5
11-44069719-G-A p.Val45Met missense ACCSL 343 82030 0.0041814 41015 3 0.015625
11-44069721-GC-G p.Gln46fs frameshift ACCSL 1 82072 1.21844E-5 41036 0 NA
11-44069729-C-T p.Thr48Met missense ACCSL 2 82072 2.43688E-5 41036 0 5.03525E-4
11-44069730-G-A p.Thr48Thr synonymous ACCSL 1 82058 1.21865E-5 41029 0 3.18573E-5
11-44069734-A-G p.Arg50Gly missense ACCSL 146 82110 0.0017781 41055 2 0.00102017
11-44069748-G-A p.Ser54Ser synonymous ACCSL 83 82202 0.00100971 41101 0 0.00151057
11-44069748-G-C p.Ser54Ser synonymous ACCSL 145 82192 0.00176416 41096 2 0.00102021
11-44069752-G-T p.Glu56* stop_gained ACCSL 1 82278 1.21539E-5 41139 0 8.29696E-6
11-44069754-G-A p.Glu56Glu synonymous ACCSL 1 82306 1.21498E-5 41153 0 NA
11-44069760-G-A p.Arg58Arg synonymous ACCSL 6 82362 7.28491E-5 41181 0 1.27437E-4
11-44069802-T-C p.Ser72Ser synonymous ACCSL 2 82634 2.42031E-5 41317 0 6.38121E-5
11-44069803-C-T p.Arg73Cys missense ACCSL 5 82654 6.04931E-5 41327 0 3.61144E-5
11-44069804-G-A p.Arg73His missense ACCSL 120 82678 0.00145141 41339 0 0.00352467
11-44069815-C-T p.Arg77Trp missense ACCSL 1 82776 1.20808E-5 41388 0 3.61037E-5
11-44069816-G-A p.Arg77Gln missense ACCSL 66 82786 7.97236E-4 41393 0 0.00125
11-44069827-C-T p.Leu81Phe missense ACCSL 2 82848 2.41406E-5 41424 0 2.4067E-5
11-44069828-T-A p.Leu81His missense ACCSL 4 82854 4.82777E-5 41427 0 4.01101E-6
11-44069834-A-G p.Gln83Arg missense ACCSL 1 82872 1.20668E-5 41436 0 5.21422E-5
11-44069837-C-A p.Ser84Tyr missense ACCSL 1 82876 1.20662E-5 41438 0 8.2872E-6
11-44069839-G-A p.Gly85Arg missense ACCSL 40 82888 4.82579E-4 41444 0 0.00302115
11-44069841-G-A p.Gly85Gly synonymous ACCSL 1 82892 1.20639E-5 41446 0 NA
11-44069844-C-T p.Ala86Ala synonymous ACCSL 8 82866 9.65414E-5 41433 1 1.12314E-4
11-44069845-G-A p.Ala87Thr missense ACCSL 20 82872 2.41336E-4 41436 0 1.91241E-4
11-44069846-C-T p.Ala87Val missense ACCSL 13 82862 1.56887E-4 41431 0 8.02188E-5
11-44069847-G-A p.Ala87Ala synonymous ACCSL 3 82876 3.61987E-5 41438 0 2.80782E-5
11-44069849-G-A p.Ser88Asn missense ACCSL 2 82892 2.41278E-5 41446 0 NA
11-44069857-G-A p.Glu91Lys missense ACCSL 2 82904 2.41243E-5 41452 0 NA
11-44069860-C-T p.Leu92Phe missense ACCSL 1 82902 1.20624E-5 41451 0 NA
11-44069868-G-A p.Val94Val synonymous ACCSL 1 82926 1.20589E-5 41463 0 1.65692E-5
11-44069870-C-G p.Pro95Arg missense ACCSL 2 82938 2.41144E-5 41469 0 1.65692E-5
11-44069883-G-A p.Glu99Glu synonymous ACCSL 712 82932 0.00858535 41466 15 0.0187404
11-44069884-G-A p.Asp100Asn missense ACCSL 18 82934 2.1704E-4 41467 0 0.001875
11-44069884-G-T p.Asp100Tyr missense ACCSL 4 82934 4.82311E-5 41467 0 1.9052E-4
11-44069886-C-T p.Asp100Asp synonymous ACCSL 1 82942 1.20566E-5 41471 0 NA
11-44069892-G-C p.Arg102Ser missense ACCSL 3 82974 3.61559E-5 41487 0 3.18776E-5
11-44069901-C-T p.Val105Val synonymous ACCSL 1 83008 1.2047E-5 41504 0 8.02073E-6
11-44069905-T-G p.Tyr107Asp missense ACCSL 1 83016 1.20459E-5 41508 0 8.28253E-6
11-44069907-T-C p.Tyr107Tyr synonymous ACCSL 17 83022 2.04765E-4 41511 0 6.01477E-5
11-44069915-G-C p.Arg110Thr missense ACCSL 1 83030 1.20438E-5 41515 0 NA
11-44069919-C-T p.Ala111Ala synonymous ACCSL 2 83024 2.40894E-5 41512 0 NA
11-44069920-C-A p.Gln112Lys missense ACCSL 2 83028 2.40883E-5 41514 0 NA
11-44069922-A-G p.Gln112Gln synonymous ACCSL 1 83024 1.20447E-5 41512 0 4.00975E-6
11-44069931-G-A p.Gly115Gly synonymous ACCSL 1 83034 1.20433E-5 41517 0 NA
11-44069944-G-A p.Val120Ile missense ACCSL 1 83068 1.20383E-5 41534 0 NA
11-44069948-C-T p.Pro121Leu missense ACCSL 2 83068 2.40767E-5 41534 0 NA
11-44069957-G-A p.Ser124Asn missense ACCSL 2 83090 2.40703E-5 41545 0 4.00895E-6
11-44069983-C-A p.Arg133Ser missense ACCSL 1 83102 1.20334E-5 41551 0 NA
11-44069983-C-T p.Arg133Cys missense ACCSL 2 83102 2.40668E-5 41551 0 1.20267E-5
11-44069984-G-A p.Arg133His missense ACCSL 3 83090 3.61054E-5 41545 0 4.97034E-5
11-44069991-A-G p.Leu135Leu synonymous ACCSL 1 83118 1.20311E-5 41559 0 4.00876E-6
11-44069994-C-T p.Ser136Ser synonymous ACCSL 1 83122 1.20305E-5 41561 0 6.37918E-5
11-44069998-C-T p.Arg138Cys missense ACCSL 2 83120 2.40616E-5 41560 0 0.00100705
11-44069999-G-A p.Arg138His missense ACCSL 5 83102 6.0167E-5 41551 0 3.19244E-5
11-44070007-G-C p.Asp141His missense ACCSL 1 83102 1.20334E-5 41551 0 4.00933E-6
11-44070029-C-T p.Ser148Leu missense ACCSL 4 83034 4.8173E-5 41517 0 3.20739E-5
11-44070029-C-A p.Ser148* stop_gained ACCSL 1 83034 1.20433E-5 41517 0 4.01445E-6
11-44070048-T-C p.Asn154Asn synonymous ACCSL 1 82884 1.20651E-5 41442 0 NA
11-44070051-C-T p.Ala155Ala synonymous ACCSL 1 82816 1.2075E-5 41408 0 NA
11-44070067-T-C p.Tyr161His missense ACCSL 1 82260 1.21566E-5 41130 0 4.15704E-6
11-44070070-C-A p.His162Asn missense ACCSL 1 81960 1.22011E-5 40980 0 8.45809E-6
11-44070086-C-T p.Thr167Ile missense ACCSL 1 76970 1.29921E-5 38485 0 NA
11-44070091-G-A c.504+1G>A splice_donor ACCSL 3 74368 4.03399E-5 37184 0 1.89645E-5
11-44071557-C-G c.505-8C>G splice_region ACCSL 3 82046 3.65649E-5 41023 0 3.18532E-5
11-44071577-G-A p.Gly173Arg missense ACCSL 520 82572 0.00629753 41286 2 0.0275
11-44071623-C-A p.Asn172Lys missense ACCSL 2 83046 2.4083E-5 41523 0 4.00773E-6
11-44071649-G-A p.Cys181Tyr missense ACCSL 2 83066 2.40772E-5 41533 0 3.18593E-5
11-44071651-A-G p.Met182Val missense ACCSL 1 83054 1.20404E-5 41527 0 9.93657E-5
11-44071653-G-T p.Met182Ile missense ACCSL 1 83044 1.20418E-5 41522 0 NA
11-44071653-G-A p.Met182Ile missense ACCSL 1 83044 1.20418E-5 41522 0 NA
11-44072099-C-T c.565-3C>T splice_region ACCSL 57 83062 6.86234E-4 41531 0 0.00449702
11-44072127-T-C p.Ile197Thr missense ACCSL 2 83122 2.4061E-5 41561 0 4.14298E-5
11-44072128-T-C p.Ile197Ile synonymous ACCSL 1 83138 1.20282E-5 41569 0 6.62877E-5
11-44072136-C-T p.Thr200Ile missense ACCSL 2 83140 2.40558E-5 41570 0 7.457E-5
11-44072150-C-G p.Pro205Ala missense ACCSL 1 83096 1.20343E-5 41548 0 4.00924E-6
11-44072153-G-C p.Asp206His missense ACCSL 1 83092 1.20349E-5 41546 0 NA
11-44072154-A-AGTATAGTAGTTGCTGCTTCAAGACCCTACCTAGGCC p.Asp206delinsGluTyrSerSerCysCysPheLysThrLeuProArgPro disruptive_inframe_insertion ACCSL 1 83080 1.20366E-5 41540 0 NA
11-44072156-T-C p.Trp207Arg missense ACCSL 1 83082 1.20363E-5 41541 0 9.55962E-5
11-44072157-G-A p.Trp207* stop_gained ACCSL 2 83080 2.40732E-5 41540 0 1.65782E-5
11-44072164-G-A p.Gly209Gly synonymous ACCSL 2 83062 2.40784E-5 41531 0 3.18715E-5
11-44072882-C-T c.636-3C>T splice_region ACCSL 18 82932 2.17045E-4 41466 0 5.73139E-4
11-44072884-G-T c.636-1G>T splice_acceptor ACCSL 1 82932 1.20581E-5 41466 0 2.40498E-5
11-44072904-C-T p.Arg219Trp missense ACCSL 1 82960 1.2054E-5 41480 0 3.31219E-5
11-44072905-G-A p.Arg219Gln missense ACCSL 2 82978 2.41028E-5 41489 0 4.40952E-5
11-44072912-G-T p.Leu221Leu synonymous ACCSL 1 83020 1.20453E-5 41510 0 4.40938E-5
11-44072914-C-A p.Thr222Asn missense ACCSL 4 83034 4.8173E-5 41517 0 3.18552E-5
11-44072918-CT-C p.Tyr224fs frameshift ACCSL 1 83032 1.20435E-5 41516 0 NA
11-44072919-T-A p.Tyr224Asn missense ACCSL 1 83028 1.20441E-5 41514 0 NA
11-44072920-AC-A p.Cys225fs frameshift ACCSL 1 83020 1.20453E-5 41510 0 NA
11-44072930-A-G p.Ala227Ala synonymous ACCSL 1 82982 1.20508E-5 41491 0 3.18695E-5
11-44072937-C-T p.Arg230* stop_gained ACCSL 1 82964 1.20534E-5 41482 0 1.24215E-4
11-44072938-G-A p.Arg230Gln missense ACCSL 1 82940 1.20569E-5 41470 0 6.25E-4
11-44072946-C-T p.Pro233Ser missense ACCSL 4 82922 4.82381E-5 41461 0 2.48435E-5
11-44072955-G-A c.705+1G>A splice_donor ACCSL 2 82830 2.41458E-5 41415 0 2.48435E-5
11-44073200-C-T c.706-3C>T splice_region ACCSL 204 82990 0.00245813 41495 1 0.011875
11-44073203-G-A p.Val236Met missense+splice_region ACCSL 44 83012 5.30044E-4 41506 0 4.12922E-4
11-44073217-T-C p.Asn240Asn synonymous ACCSL 41 83058 4.93631E-4 41529 0 7.64039E-4
11-44073219-G-T p.Gly241Val missense ACCSL 6 83068 7.223E-5 41534 0 NA
11-44073222-G-T p.Cys242Phe missense ACCSL 2 83080 2.40732E-5 41540 0 NA
11-44073225-G-C p.Cys243Ser missense ACCSL 4 83074 4.81498E-5 41537 0 1.65601E-5
11-44073225-G-T p.Cys243Phe missense ACCSL 2 83074 2.40749E-5 41537 0 4.00863E-6
11-44073228-C-T p.Ser244Phe missense ACCSL 1 83086 1.20357E-5 41543 0 8.01706E-6
11-44073235-C-T p.Phe246Phe synonymous ACCSL 68 83080 8.18488E-4 41540 0 0.00149643
11-44073240-C-T p.Ala248Val missense ACCSL 1 83062 1.20392E-5 41531 0 NA
11-44073248-A-T p.Met251Leu missense ACCSL 1 83046 1.20415E-5 41523 0 NA
11-44073256-G-C p.Leu253Leu synonymous ACCSL 2 82990 2.40993E-5 41495 0 NA
11-44073268-C-T p.Gly257Gly splice_region+synonymous ACCSL 18 82832 2.17307E-4 41416 0 6.68619E-4
11-44073269-G-A p.Glu258Lys missense+splice_region ACCSL 1 82844 1.20709E-5 41422 0 8.28034E-6
11-44074204-GT-G c.773-7delT splice_region ACCSL 2 82976 2.41034E-5 41488 0 8.28404E-6
11-44074225-C-T p.Val262Val synonymous ACCSL 3 83122 3.60915E-5 41561 0 NA
11-44074239-A-C p.Tyr267Ser missense ACCSL 2 83140 2.40558E-5 41570 0 3.18898E-5
11-44074246-C-T p.Gly269Gly synonymous ACCSL 3 83168 3.60716E-5 41584 0 5.03525E-4
11-44074262-C-T p.Arg275Cys missense ACCSL 3 83156 3.60768E-5 41578 0 2.07005E-4
11-44074263-G-A p.Arg275His missense ACCSL 1 83164 1.20244E-5 41582 0 1.60304E-5
11-44074297-C-T p.His286His synonymous ACCSL 2 83102 2.40668E-5 41551 0 NA
11-44074303-G-A p.Glu288Glu synonymous ACCSL 628 83070 0.00755989 41535 3 0.028125
11-44074309-G-T p.Glu290Asp missense+splice_region ACCSL 2 83048 2.40825E-5 41524 0 8.017E-6
11-44074312-C-G c.870+3C>G splice_region ACCSL 3 83022 3.6135E-5 41511 0 6.37592E-5
11-44074544-A-T p.Thr292Ser missense ACCSL 1 82940 1.20569E-5 41470 0 NA
11-44074552-A-G p.Thr294Thr synonymous ACCSL 1 82960 1.2054E-5 41480 0 NA
11-44074559-C-T p.His297Tyr missense ACCSL 1 82990 1.20496E-5 41495 0 NA
11-44074585-G-A p.Lys305Lys synonymous ACCSL 2 82984 2.4101E-5 41492 0 3.18492E-5
11-44074601-C-A p.Leu311Ile missense ACCSL 2 82904 2.41243E-5 41452 0 4.01191E-6
11-44074606-A-T p.Glu312Asp missense ACCSL 4 82852 4.82789E-5 41426 0 NA
11-44074608-C-G p.Ala313Gly missense ACCSL 1 82830 1.20729E-5 41415 0 0.006875
11-44074613-C-G p.Leu315Val missense ACCSL 1 82820 1.20744E-5 41410 0 NA
11-44074968-C-G p.Arg321Gly missense ACCSL 13 83200 1.5625E-4 41600 1 NA
11-44074969-G-A p.Arg321Gln missense ACCSL 4 83202 4.80758E-5 41601 0 6.37146E-5
11-44074973-C-A p.Gly322Gly synonymous ACCSL 2 83214 2.40344E-5 41607 0 6.36902E-5
11-44074988-C-A p.Asn327Lys missense ACCSL 5 83240 6.00673E-5 41620 0 6.25E-4
11-44075001-C-T p.Leu332Leu synonymous ACCSL 1 83228 1.20152E-5 41614 0 NA
11-44075004-G-A p.Gly333Ser missense ACCSL 1 83232 1.20146E-5 41616 0 NA
11-44075006-T-A p.Gly333Gly synonymous ACCSL 1 83228 1.20152E-5 41614 0 1.65653E-5
11-44075026-C-T p.Ser340Leu missense ACCSL 2 83214 2.40344E-5 41607 0 2.56492E-4
11-44075027-A-G p.Ser340Ser synonymous ACCSL 2 83210 2.40356E-5 41605 0 4.00786E-6
11-44075033-G-T p.Met342Ile missense ACCSL 1 83210 1.20178E-5 41605 0 4.00786E-6
11-44075036-A-G p.Lys343Lys synonymous ACCSL 1 83190 1.20207E-5 41595 0 1.65717E-5
11-44075038-A-G p.Tyr344Cys missense ACCSL 3 83190 3.6062E-5 41595 0 2.80559E-5
11-44075050-C-A p.Ala348Asp missense ACCSL 5 83104 6.01656E-5 41552 0 3.18492E-5
11-44075061-G-A c.1049+5G>A splice_region ACCSL 1 83030 1.20438E-5 41515 0 1.20296E-5
11-44076752-G-A p.Arg350Arg splice_region+synonymous ACCSL 1 82458 1.21274E-5 41229 0 6.25E-4
11-44076760-T-C p.Leu353Pro missense ACCSL 1 82594 1.21074E-5 41297 0 4.01564E-6
11-44076765-G-A p.Val355Met missense ACCSL 1 82638 1.2101E-5 41319 0 3.18431E-5
11-44076767-G-C p.Val355Val synonymous ACCSL 1 82674 1.20957E-5 41337 0 6.25E-4
11-44076768-A-G p.Ile356Val missense ACCSL 6 82676 7.25725E-5 41338 0 4.20741E-5
11-44076772-T-C p.Ile357Thr missense ACCSL 1 82718 1.20893E-5 41359 0 1.67991E-5
11-44076776-T-C p.Asp358Asp synonymous ACCSL 23 82744 2.77966E-4 41372 1 0.00406504
11-44076779-G-C p.Glu359Asp missense ACCSL 2 82770 2.41633E-5 41385 0 0.00125
11-44076788-G-A p.Met362Ile missense ACCSL 5 82836 6.03602E-5 41418 0 0.0010142
11-44076790-T-C p.Leu363Pro missense ACCSL 1 82836 1.2072E-5 41418 0 3.18471E-5
11-44076791-G-C p.Leu363Leu synonymous ACCSL 10 82844 1.20709E-4 41422 0 0.003125
11-44076808-C-A p.Ser369Tyr missense ACCSL 18 82852 2.17255E-4 41426 0 0.001875
11-44076816-T-C p.Phe372Leu missense ACCSL 1 82834 1.20723E-5 41417 0 3.18451E-5
11-44076819-C-G p.His373Asp missense ACCSL 1 82816 1.2075E-5 41408 0 NA
11-44076828-C-G p.Leu376Val missense ACCSL 3 82758 3.62503E-5 41379 0 3.18552E-5
11-44076831-A-G p.Ser377Gly missense ACCSL 2 82742 2.41715E-5 41371 0 8.40068E-6
11-44076844-G-A c.1139+3G>A splice_region ACCSL 1 82646 1.20998E-5 41323 0 3.1839E-5
11-44077593-G-T p.Leu381Phe missense ACCSL 3 83220 3.6049E-5 41610 0 4.0085E-6
11-44077594-C-G p.Pro382Ala missense ACCSL 3 83226 3.60464E-5 41613 0 1.59246E-4
11-44077621-T-A p.Trp391Arg missense ACCSL 3 83314 3.60084E-5 41657 0 2.40442E-5
11-44077624-G-A p.Gly392Ser missense ACCSL 1 83316 1.20025E-5 41658 0 NA
11-44077635-G-A p.Lys395Lys splice_region+synonymous ACCSL 2 83328 2.40015E-5 41664 0 NA
11-44077643-A-C c.1185+8A>C splice_region ACCSL 5 83340 5.99952E-5 41670 0 2.08383E-4
11-44077728-C-T c.1186-7C>T splice_region ACCSL 2 83352 2.39946E-5 41676 0 3.18471E-5
11-44077739-T-C p.Phe397Ser missense ACCSL 1 83360 1.19962E-5 41680 0 2.48435E-5
11-44077746-C-T p.Ile399Ile synonymous ACCSL 2 83354 2.3994E-5 41677 0 8.2813E-6
11-44077751-GCT-G p.Phe402fs frameshift ACCSL 2 83356 2.39935E-5 41678 0 NA
11-44077756-C-T p.Arg403Cys missense ACCSL 3 83354 3.59911E-5 41677 0 6.25E-4
11-44077769-T-C p.Leu407Pro missense ACCSL 1 83352 1.19973E-5 41676 0 1.6564E-5
11-44077773-T-C p.Tyr408Tyr synonymous ACCSL 2 83348 2.39958E-5 41674 0 NA
11-44077777-CACA-C p.Asn411del disruptive_inframe_deletion ACCSL 2 83348 2.39958E-5 41674 0 4.00725E-6
11-44077796-C-T p.Ser416Phe missense ACCSL 2 83318 2.40044E-5 41659 0 3.1841E-5
11-44077801-G-A p.Val418Met missense ACCSL 7 83308 8.40255E-5 41654 0 0.00151057
11-44077807-G-A p.Ala420Thr missense ACCSL 2 83294 2.40113E-5 41647 0 NA
11-44077811-T-C p.Phe421Ser missense ACCSL 2 83290 2.40125E-5 41645 0 8.31504E-6
11-44077858-CA-C p.Gln437fs frameshift ACCSL 1 82996 1.20488E-5 41498 0 NA
11-44077883-A-G c.1327+7A>G splice_region ACCSL 2 82596 2.42142E-5 41298 0 NA
11-44079861-A-G c.1328-6A>G splice_region ACCSL 2 83274 2.40171E-5 41637 0 NA
11-44079866-G-A c.1328-1G>A splice_acceptor ACCSL 2 83276 2.40165E-5 41638 0 NA
11-44079873-T-C p.Ile445Thr missense ACCSL 1 83284 1.20071E-5 41642 0 3.31433E-5
11-44079881-G-T p.Val448Leu missense ACCSL 1 83300 1.20048E-5 41650 0 NA
11-44079886-C-G p.Tyr449* stop_gained ACCSL 1 83314 1.20028E-5 41657 0 NA
11-44079904-C-T p.Tyr455Tyr synonymous ACCSL 2 83330 2.4001E-5 41665 0 3.18512E-5
11-44079905-C-T p.Arg456Trp missense ACCSL 5 83332 6.0001E-5 41666 0 1.27437E-4
11-44079906-G-A p.Arg456Gln missense ACCSL 5 83332 6.0001E-5 41666 0 6.37267E-5
11-44079906-G-T p.Arg456Leu missense ACCSL 1 83332 1.20002E-5 41666 0 5.79672E-5
11-44079911-C-T p.Arg458Trp missense ACCSL 14 83328 1.68011E-4 41664 0 2.86789E-4
11-44079912-G-A p.Arg458Gln missense ACCSL 9 83330 1.08004E-4 41665 0 8.01378E-5
11-44079913-G-A p.Arg458Arg synonymous ACCSL 2 83332 2.40004E-5 41666 0 6.62427E-5
11-44079925-G-A p.Lys462Lys synonymous ACCSL 2 83336 2.39992E-5 41668 0 NA
11-44079933-C-T p.Thr465Ile missense ACCSL 1 83344 1.19985E-5 41672 0 4.00683E-6
11-44079934-T-A p.Thr465Thr synonymous ACCSL 1 83340 1.1999E-5 41670 0 NA
11-44079936-CT-C p.Glu467fs frameshift ACCSL 1 83340 1.1999E-5 41670 0 1.60274E-5
11-44079964-T-C p.Phe475Phe synonymous ACCSL 3 83354 3.59911E-5 41677 0 4.00683E-6
11-44079968-A-T p.Asn477Tyr missense ACCSL 1 83356 1.19967E-5 41678 0 8.01372E-6
11-44079972-G-A p.Arg478His missense ACCSL 5 83358 5.99822E-5 41679 0 2.4841E-5
11-44079979-T-C p.Ser480Ser synonymous ACCSL 1 83360 1.19962E-5 41680 0 NA
11-44079981-G-A p.Gly481Asp missense ACCSL 2 83360 2.39923E-5 41680 0 6.41128E-5
11-44079986-T-C p.Tyr483His missense ACCSL 1 83356 1.19967E-5 41678 0 4.00708E-6
11-44079990-T-C p.Val484Ala missense ACCSL 2 83350 2.39952E-5 41675 0 1.65623E-5
11-44080001-T-C p.Leu488Leu synonymous ACCSL 21 83356 2.51931E-4 41678 0 3.51146E-4
11-44080010-G-A c.1470+1G>A splice_donor ACCSL 2 83346 2.39964E-5 41673 0 3.18552E-5
11-44080014-G-C c.1470+5G>C splice_region ACCSL 1 83344 1.19985E-5 41672 0 NA
11-44080107-C-G p.Pro494Pro synonymous ACCSL 2 83314 2.40056E-5 41657 0 1.65802E-5
11-44080112-C-T p.Thr496Ile missense ACCSL 2 83324 2.40027E-5 41662 0 3.18735E-5
11-44080116-TGAA-T p.Glu500del conservative_inframe_deletion ACCSL 2 83320 2.40038E-5 41660 0 1.65788E-5
11-44080126-C-T p.Arg501Trp missense ACCSL 6 83314 7.20167E-5 41657 0 5.03525E-4
11-44080133-T-A p.Leu503His missense ACCSL 1 83314 1.20028E-5 41657 0 NA
11-44080139-G-A p.Cys505Tyr missense ACCSL 1 83326 1.20011E-5 41663 0 NA
11-44080141-C-T p.Arg506Cys missense ACCSL 1 83322 1.20016E-5 41661 0 4.80912E-5
11-44080171-C-T p.Arg516Cys missense ACCSL 4 83332 4.80008E-5 41666 0 4.14106E-5
11-44080172-G-A p.Arg516His missense ACCSL 2 83328 2.40015E-5 41664 0 5.03525E-4
11-44080185-C-CA p.Met521fs frameshift ACCSL 1 83338 1.19993E-5 41669 0 NA
11-44080190-G-A p.Cys522Tyr missense ACCSL 1 83338 1.19993E-5 41669 0 4.00744E-6
11-44080201-G-A p.Gly526Ser missense ACCSL 1 83336 1.19996E-5 41668 0 NA
11-44080204-T-C p.Trp527Arg missense ACCSL 1 83330 1.20005E-5 41665 0 NA
11-44080209-C-T p.Phe528Phe synonymous ACCSL 2 83322 2.40033E-5 41661 0 8.0179E-6
11-44080210-T-C p.Cys529Arg missense ACCSL 61389 81884 0.749707 40942 23118 0.792502
11-44080211-G-A p.Cys529Tyr missense ACCSL 1 83322 1.20016E-5 41661 0 2.49145E-5
11-44080217-T-C p.Ile531Thr missense ACCSL 1 83308 1.20036E-5 41654 0 1.08171E-4
11-44080230-G-A p.Glu535Glu synonymous ACCSL 1 83282 1.20074E-5 41641 0 NA
11-44080232-T-TC p.Arg538fs frameshift ACCSL 1 83266 1.20097E-5 41633 0 NA
11-44080237-C-T p.Arg538Trp missense ACCSL 9 83252 1.08106E-4 41626 0 0.00151057
11-44080238-G-A p.Arg538Gln missense ACCSL 6 83226 7.20929E-5 41613 0 2.82826E-5
11-44080243-A-C p.Lys540Gln missense ACCSL 1 83196 1.20198E-5 41598 0 1.21235E-5
11-44080246-T-C p.Leu541Leu synonymous ACCSL 6 83176 7.21362E-5 41588 0 3.18857E-5
11-44080247-T-C p.Leu541Ser missense+splice_region ACCSL 2 83158 2.40506E-5 41579 0 6.37714E-5
11-44080254-G-A c.1624+5G>A splice_region ACCSL 12 83056 1.44481E-4 41528 0 4.24355E-5
11-44080256-G-A c.1624+7G>A splice_region ACCSL 2 83016 2.40917E-5 41508 0 NA
11-44081380-C-A c.1625-8C>A splice_region ACCSL 1 83212 1.20175E-5 41606 0 NA
11-44081386-AGC-A p.Ala542fs frameshift ACCSL 1 83262 1.20103E-5 41631 0 8.2861E-6
11-44081391-T-A p.Met543Lys missense ACCSL 3 83272 3.60265E-5 41636 0 5.03525E-4
11-44081393-C-T p.Arg544Cys missense ACCSL 73 83282 8.7654E-4 41641 0 0.00125
11-44081394-G-A p.Arg544His missense ACCSL 2 83304 2.40085E-5 41652 0 6.36902E-5
11-44081408-G-A p.Val549Met missense ACCSL 1 83346 1.19982E-5 41673 0 NA
11-44081410-G-T p.Val549Val synonymous ACCSL 1 83346 1.19982E-5 41673 0 NA
11-44081416-G-A p.Gln551Gln synonymous ACCSL 1 83342 1.19988E-5 41671 0 3.1841E-5
11-44081423-A-G p.Lys554Glu missense ACCSL 1 83342 1.19988E-5 41671 0 NA
11-44081424-A-G p.Lys554Arg missense ACCSL 1 83348 1.19979E-5 41674 0 8.01558E-6
11-44081427-A-C p.Glu555Ala missense ACCSL 9 83348 1.07981E-4 41674 0 1.91058E-4
11-44081455-T-C p.Asp564Asp synonymous ACCSL 2 83330 2.4001E-5 41665 0 NA