Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-51293672-A-G p.Met1? start_lost ACPT 1 45176 2.21356E-5 22588 0 NA
19-51293678-G-A p.Gly3Ser missense ACPT 6 45236 1.32638E-4 22618 0 2.23785E-4
19-51293699-C-G p.Pro10Ala missense ACPT 2 45812 4.36567E-5 22906 0 5.02755E-6
19-51293700-C-G p.Pro10Arg missense ACPT 18 45942 3.91798E-4 22971 0 8.1666E-4
19-51293713-CCTG-C p.Leu20del conservative_inframe_deletion ACPT 191 44466 0.00429542 22233 1 0.0378947
19-51293717-C-CTGCT p.Leu18fs frameshift ACPT 2 46786 4.27478E-5 23393 0 3.71223E-5
19-51293717-CT-GG p.Leu16Gly missense ACPT 1 46786 2.13739E-5 23393 0 NA
19-51293723-CTGCTGCTGG-C p.Leu20_Leu22del disruptive_inframe_deletion ACPT 3 47024 6.37972E-5 23512 0 5.41003E-6
19-51293732-G-C p.Val21Leu missense ACPT 1 47576 2.1019E-5 23788 0 3.3972E-5
19-51293744-C-T p.Arg25Trp missense ACPT 2 48846 4.0945E-5 24423 0 5.66658E-5
19-51293745-G-C p.Arg25Pro missense ACPT 1 48796 2.04935E-5 24398 0 NA
19-51293745-G-A p.Arg25Gln missense ACPT 3 48794 6.1483E-5 24397 0 6.91511E-5
19-51293763-C-A p.Pro31His missense ACPT 2 51940 3.8506E-5 25970 0 3.19407E-5
19-51293773-C-G p.Phe34Leu missense ACPT 1 53516 1.8686E-5 26758 0 NA
19-51293849-A-G c.112-2A>G splice_acceptor ACPT 1 63656 1.57094E-5 31828 0 NA
19-51293858-G-A p.Arg40His missense ACPT 2 63206 3.16426E-5 31603 0 3.19326E-5
19-51293865-C-T p.Gly42Gly synonymous ACPT 3 63092 4.75496E-5 31546 0 6.29406E-5
19-51293866-G-A p.Asp43Asn missense ACPT 1 63276 1.58038E-5 31638 0 3.19326E-5
19-51293867-A-T p.Asp43Val missense ACPT 1 63172 1.58298E-5 31586 0 NA
19-51293870-G-A p.Arg44Gln missense ACPT 1 63244 1.58118E-5 31622 0 0.00105374
19-51293876-C-T p.Pro46Leu missense ACPT 2 63068 3.17118E-5 31534 0 NA
19-51293877-G-A p.Pro46Pro synonymous ACPT 22 62676 3.51012E-4 31338 0 0.0025
19-51293878-C-A p.Leu47Met missense ACPT 1 62910 1.58957E-5 31455 0 1.87359E-4
19-51293883-C-T p.Ala48Ala synonymous ACPT 2 63042 3.17249E-5 31521 0 3.19387E-5
19-51293892-C-A p.Pro51Pro synonymous ACPT 1 62596 1.59755E-5 31298 0 NA
19-51293895-G-C p.Met52Ile missense ACPT 2 62150 3.21802E-5 31075 0 6.43277E-6
19-51293898-C-T p.Asp53Asp synonymous ACPT 1 61908 1.6153E-5 30954 0 3.19652E-5
19-51293901-A-C p.Pro54Pro synonymous ACPT 2 61544 3.24971E-5 30772 0 7.07141E-5
19-51293933-G-A p.Arg65Gln missense ACPT 1 59306 1.68617E-5 29653 0 3.32677E-5
19-51293945-A-G p.Gln69Arg missense ACPT 1 59720 1.67448E-5 29860 0 6.74136E-6
19-51293954-C-T p.Thr72Met missense+splice_region ACPT 2 59426 3.36553E-5 29713 0 9.73647E-5
19-51293955-G-A p.Thr72Thr splice_region+synonymous ACPT 5927 59146 0.10021 29573 349 0.155568
19-51293958-G-T c.216+3G>T splice_region ACPT 1 59808 1.67202E-5 29904 0 6.88212E-6
19-51294025-C-T c.217-6C>T splice_region ACPT 1 69950 1.42959E-5 34975 0 4.68359E-5
19-51294028-C-T c.217-3C>T splice_region ACPT 1 70410 1.42025E-5 35205 0 3.51124E-4
19-51294036-G-C p.Gly74Gly synonymous ACPT 1 71428 1.40001E-5 35714 0 NA
19-51294040-C-T p.Arg76Cys missense ACPT 1 71526 1.39809E-5 35763 0 9.58283E-5
19-51294040-C-G p.Arg76Gly missense ACPT 1 71528 1.39805E-5 35764 0 6.6184E-6
19-51294041-G-A p.Arg76His missense ACPT 11 71782 1.53242E-4 35891 0 1.80592E-4
19-51294069-G-T p.Leu85Leu synonymous ACPT 2 74766 2.67501E-5 37383 0 1.956E-5
19-51294074-G-T p.Ser87Ile missense ACPT 1 74956 1.33412E-5 37478 0 NA
19-51294077-G-A p.Arg88His missense ACPT 2 75012 2.66624E-5 37506 0 6.50643E-6
19-51294078-C-G p.Arg88Arg synonymous ACPT 4 75106 5.32581E-5 37553 0 6.38284E-5
19-51294081-C-T p.Tyr89Tyr synonymous ACPT 5 75182 6.65053E-5 37591 0 7.16332E-4
19-51294095-G-A p.Ser94Asn missense ACPT 1 75252 1.32887E-5 37626 0 NA
19-51294098-C-T p.Pro95Leu missense ACPT 2748 74766 0.0367547 37383 79 0.0366009
19-51294099-G-A p.Pro95Pro synonymous ACPT 8 74946 1.06744E-4 37473 0 7.44048E-4
19-51294102-G-A p.Glu96Glu synonymous ACPT 20 74766 2.67501E-4 37383 0 5.75963E-4
19-51294106-C-T p.Arg98Trp missense ACPT 1 74412 1.34387E-5 37206 0 6.65504E-6
19-51294107-G-A p.Arg98Gln missense ACPT 5 74152 6.74291E-5 37076 0 1.27787E-4
19-51294123-G-A c.303+6G>A splice_region ACPT 32 68236 4.68961E-4 34118 0 0.00124561
19-51294905-C-G c.304-8C>G splice_region ACPT 4 82492 4.84895E-5 41246 0 NA
19-51294906-G-A c.304-7G>A splice_region ACPT 4 82474 4.85001E-5 41237 0 5.83703E-5
19-51294921-C-T p.Ile104Ile synonymous ACPT 1 82566 1.21115E-5 41283 0 8.32681E-6
19-51294927-C-T p.Ser106Ser synonymous ACPT 1 82580 1.21095E-5 41290 0 1.66508E-5
19-51294935-T-C p.Phe109Ser missense ACPT 1 82548 1.21142E-5 41274 0 NA
19-51294940-C-T p.Arg111Cys missense ACPT 8 82530 9.69344E-5 41265 0 1.31665E-4
19-51294944-C-T p.Thr112Met missense ACPT 2 82506 2.42407E-5 41253 0 8.33194E-6
19-51294945-G-A p.Thr112Thr synonymous ACPT 1 82476 1.21247E-5 41238 0 7.98027E-6
19-51294955-G-T p.Ala116Ser missense ACPT 1 82434 1.21309E-5 41217 0 NA
19-51294973-G-A p.Gly122Arg missense ACPT 2 82282 2.43067E-5 41141 0 1.5978E-5
19-51294984-C-T p.Pro125Pro synonymous ACPT 467 82196 0.00568154 41098 9 0.0125279
19-51294985-G-C p.Glu126Gln missense ACPT 3 82184 3.65035E-5 41092 0 8.00512E-6
19-51294991-G-C p.Ala128Pro missense ACPT 2 82066 2.43706E-5 41033 0 3.38799E-5
19-51294996-A-G p.Pro129Pro synonymous ACPT 15 82012 1.829E-4 41006 0 1.10678E-4
19-51295001-G-A p.Ser131Asn missense ACPT 2 81906 2.44182E-5 40953 0 3.18634E-5
19-51295002-C-A p.Ser131Arg missense ACPT 1 81878 1.22133E-5 40939 0 2.0124E-5
19-51295005-C-T p.Pro132Pro synonymous ACPT 1 81790 1.22264E-5 40895 0 5.18126E-5
19-51295012-C-A p.Arg135Ser missense ACPT 1 81644 1.22483E-5 40822 0 8.08336E-5
19-51295012-C-G p.Arg135Gly missense ACPT 1 81644 1.22483E-5 40822 0 8.08336E-6
19-51295012-C-T p.Arg135Cys missense ACPT 3 81644 3.67449E-5 40822 0 3.18593E-5
19-51295013-G-A p.Arg135His missense ACPT 3 81630 3.67512E-5 40815 0 0.00252016
19-51295022-C-T p.Pro138Leu missense ACPT 2 81412 2.45664E-5 40706 0 1.62401E-5
19-51295028-C-T p.Pro140Leu missense ACPT 1 81228 1.2311E-5 40614 0 4.10647E-6
19-51295037-C-G p.Thr143Arg missense ACPT 1 80950 1.23533E-5 40475 0 1.12307E-5
19-51295038-G-A p.Thr143Thr synonymous ACPT 2 80900 2.47219E-5 40450 0 4.6422E-5
19-51295050-T-A p.Ala147Ala synonymous ACPT 1 80420 1.24347E-5 40210 0 NA
19-51295054-G-A p.Asp149Asn missense ACPT 1 80228 1.24645E-5 40114 0 NA
19-51295057-A-G p.Lys150Glu missense+splice_region ACPT 5 80096 6.24251E-5 40048 0 0.00129366
19-51295062-C-T c.450+3C>T splice_region ACPT 2 79776 2.50702E-5 39888 0 2.28862E-5
19-51295066-G-C c.450+7G>C splice_region ACPT 1 79606 1.25619E-5 39803 0 1.62033E-5
19-51295322-T-C c.451-8T>C splice_region ACPT 2 79284 2.52258E-5 39642 0 7.74954E-5
19-51295326-C-T c.451-4C>T splice_region ACPT 1 79338 1.26043E-5 39669 0 5.33231E-6
19-51295332-G-C p.Leu151Leu splice_region+synonymous ACPT 5 79452 6.29311E-5 39726 0 6.7245E-5
19-51295344-C-T p.Pro155Pro synonymous ACPT 7 79636 8.78999E-5 39818 0 2.23664E-4
19-51295348-C-A p.Arg157Ser missense ACPT 4 79654 5.02172E-5 39827 0 0.00105374
19-51295349-G-A p.Arg157His missense ACPT 4 79672 5.02058E-5 39836 0 5.101E-5
19-51295354-TGTCCCCGATACCACGAGCTGCTG-T p.Cys159fs frameshift ACPT 1 79832 1.25263E-5 39916 0 NA
19-51295361-G-A p.Arg161Gln missense ACPT 1 79960 1.25063E-5 39980 0 7.77635E-5
19-51295368-C-T p.His163His synonymous ACPT 13 80174 1.62147E-4 40087 0 1.71469E-4
19-51295378-C-T p.Arg167Trp missense ACPT 1 80334 1.2448E-5 40167 0 NA
19-51295379-G-A p.Arg167Gln missense ACPT 1 80404 1.24372E-5 40202 0 1.67928E-5
19-51295389-C-T p.Thr170Thr synonymous ACPT 22 80450 2.73462E-4 40225 0 0.00114774
19-51295389-C-A p.Thr170Thr synonymous ACPT 5 80452 6.21489E-5 40226 0 2.0937E-5
19-51295390-G-A p.Glu171Lys missense ACPT 16 80514 1.98723E-4 40257 0 2.231E-4
19-51295395-C-T p.Ala172Ala synonymous ACPT 1 80562 1.24128E-5 40281 0 3.57449E-5
19-51295396-G-A p.Ala173Thr missense ACPT 7 80566 8.68853E-5 40283 0 4.68483E-5
19-51295399-G-A p.Glu174Lys missense ACPT 1 80690 1.23931E-5 40345 0 0.00252845
19-51295403-A-G p.Tyr175Cys missense ACPT 2 80746 2.4769E-5 40373 0 1.06966E-5
19-51295413-C-A p.Ala178Ala synonymous ACPT 1 80672 1.23959E-5 40336 0 1.02078E-5
19-51295414-C-A p.Leu179Met missense ACPT 1 80732 1.23867E-5 40366 0 NA
19-51295424-G-A p.Trp182* stop_gained ACPT 2 80756 2.4766E-5 40378 0 9.76677E-6
19-51295427-C-T p.Thr183Met missense+splice_region ACPT 1 80686 1.23937E-5 40343 0 5.08647E-4
19-51295435-A-G c.549+7A>G splice_region ACPT 15 80666 1.85952E-4 40333 0 1.27494E-4
19-51295491-G-A c.550-8G>A splice_region ACPT 81 81324 9.96016E-4 40662 0 0.0012115
19-51295495-C-T c.550-4C>T splice_region ACPT 29 81474 3.55942E-4 40737 0 8.6064E-4
19-51295499-G-T p.Gly184Cys missense+splice_region ACPT 2 81562 2.45212E-5 40781 0 NA
19-51295512-G-A p.Arg188His missense ACPT 2 81778 2.44565E-5 40889 0 3.37223E-5
19-51295525-C-G p.Phe192Leu missense ACPT 1 82004 1.21945E-5 41002 0 NA
19-51295528-G-A p.Thr193Thr synonymous ACPT 7 82028 8.53367E-5 41014 0 5.04032E-4
19-51295532-C-T p.Leu195Leu synonymous ACPT 4 82050 4.87508E-5 41025 0 3.18715E-5
19-51295536-C-T p.Ser196Leu missense ACPT 8 82052 9.74991E-5 41026 0 1.91314E-4
19-51295556-C-T p.Arg203Cys missense ACPT 3 82076 3.65515E-5 41038 0 3.18817E-5
19-51295570-G-A p.Lys207Lys synonymous ACPT 1 81992 1.21963E-5 40996 0 NA
19-51295588-G-A p.Met213Ile missense ACPT 1 81756 1.22315E-5 40878 0 NA
19-51295600-C-T c.645+6C>T splice_region ACPT 2 81410 2.4567E-5 40705 0 NA
19-51295601-C-A c.645+7C>A splice_region ACPT 1 81426 1.22811E-5 40713 0 NA
19-51295601-C-T c.645+7C>T splice_region ACPT 1 81426 1.22811E-5 40713 0 NA
19-51296934-C-T c.646-7C>T splice_region ACPT 13 82862 1.56887E-4 41431 0 5.41332E-4
19-51296940-G-C c.646-1G>C splice_acceptor ACPT 5 82874 6.03326E-5 41437 0 4.1675E-5
19-51296949-C-T p.His218His synonymous ACPT 13 82912 1.56793E-4 41456 0 4.45945E-4
19-51296950-G-C p.Gly219Arg missense ACPT 32 82894 3.86035E-4 41447 0 0.00100806
19-51296950-G-A p.Gly219Ser missense ACPT 1 82898 1.2063E-5 41449 0 3.32801E-5
19-51296951-GTC-G p.Leu220fs frameshift ACPT 1 82924 1.20592E-5 41462 0 NA
19-51296957-C-G p.Pro221Arg missense ACPT 2 82966 2.41063E-5 41483 0 1.27421E-4
19-51296977-C-A p.Pro228Thr missense ACPT 1 82994 1.20491E-5 41497 0 3.32369E-5
19-51296978-C-A p.Pro228Gln missense ACPT 2 82990 2.40993E-5 41495 0 2.38928E-5
19-51296980-G-A p.Asp229Asn missense ACPT 1 82994 1.20491E-5 41497 0 2.49207E-5
19-51296988-G-A p.Leu231Leu synonymous ACPT 1 83000 1.20482E-5 41500 0 NA
19-51296989-C-T p.Arg232Trp missense ACPT 2 83004 2.40952E-5 41502 0 3.18573E-5
19-51296990-G-A p.Arg232Gln missense ACPT 9 83006 1.08426E-4 41503 0 5.03525E-4
19-51296992-A-G p.Thr233Ala missense ACPT 1 83008 1.2047E-5 41504 0 NA
19-51296994-T-C p.Thr233Thr synonymous ACPT 1 83020 1.20453E-5 41510 0 8.29807E-6
19-51297008-C-T p.Ser238Leu missense ACPT 6 83006 7.22839E-5 41503 0 1.65906E-5
19-51297009-G-A p.Ser238Ser synonymous ACPT 2 83000 2.40964E-5 41500 0 3.18674E-5
19-51297012-T-G p.Ala239Ala synonymous ACPT 2 83000 2.40964E-5 41500 0 8.2938E-6
19-51297021-T-C p.Ile242Ile synonymous ACPT 1 83016 1.20459E-5 41508 0 NA
19-51297023-G-A p.Gly243Glu missense ACPT 3 83002 3.61437E-5 41501 0 8.29311E-6
19-51297030-C-T p.His245His synonymous ACPT 1 82984 1.20505E-5 41492 0 4.97628E-5
19-51297031-G-A p.Val246Met missense ACPT 1 82972 1.20523E-5 41486 0 3.18552E-5
19-51297035-G-T p.Gly247Val missense ACPT 2 82978 2.41028E-5 41489 0 NA
19-51297041-C-T p.Pro249Leu missense ACPT 1 83002 1.20479E-5 41501 0 NA
19-51297043-C-T p.Arg250Trp missense ACPT 1 83032 1.20435E-5 41516 0 3.18492E-5
19-51297047-C-A p.Ala251Glu missense ACPT 1 83038 1.20427E-5 41519 0 NA
19-51297068-CAG-C p.Gly260fs frameshift ACPT 4 83054 4.81614E-5 41527 0 3.31109E-5
19-51297071-G-C p.Gly259Ala missense+splice_region ACPT 2 83048 2.40825E-5 41524 0 3.1841E-5
19-51297073-G-C p.Gly260Arg missense+splice_region ACPT 2 83060 2.4079E-5 41530 0 3.18431E-5
19-51297078-GGT-G c.778+6_778+7delGT splice_region ACPT 1 83046 1.20415E-5 41523 0 NA
19-51297138-T-C c.779-7T>C splice_region ACPT 1848 83144 0.0222265 41572 37 0.04875
19-51297146-G-A p.Gly260Gly splice_region+synonymous ACPT 1 83176 1.20227E-5 41588 0 NA
19-51297163-T-A p.Ile266Asn missense ACPT 1 83178 1.20224E-5 41589 0 3.97646E-6
19-51297167-T-G p.Leu267Leu synonymous ACPT 1 83168 1.20239E-5 41584 0 NA
19-51297177-T-C p.Ser271Pro missense ACPT 1 83124 1.20302E-5 41562 0 8.24158E-6
19-51297180-C-T p.Arg272Trp missense ACPT 1 83078 1.20369E-5 41539 0 3.57935E-5
19-51297181-G-A p.Arg272Gln missense ACPT 6 83058 7.22387E-5 41529 0 6.25E-4
19-51297189-C-T p.Arg275Cys missense ACPT 3 82960 3.6162E-5 41480 0 3.18634E-5
19-51297190-G-A p.Arg275His missense ACPT 1 82936 1.20575E-5 41468 0 1.1932E-5
19-51297191-C-T p.Arg275Arg synonymous ACPT 1 82930 1.20584E-5 41465 0 NA
19-51297217-T-C p.Met284Thr missense ACPT 2 82358 2.42842E-5 41179 0 8.25123E-6
19-51297706-A-G c.862-8A>G splice_region ACPT 1 82398 1.21362E-5 41199 0 1.67884E-5
19-51297711-C-T c.862-3C>T splice_region ACPT 1 82506 1.21203E-5 41253 0 1.60031E-5
19-51297711-C-A c.862-3C>A splice_region ACPT 1 82506 1.21203E-5 41253 0 8.38771E-6
19-51297720-A-G p.Ser290Gly missense ACPT 1 82694 1.20928E-5 41347 0 1.19853E-5
19-51297724-C-A p.Thr291Asn missense ACPT 1 82784 1.20796E-5 41392 0 3.18817E-5
19-51297726-C-G p.Leu292Val missense ACPT 1 82810 1.20758E-5 41405 0 7.98888E-6
19-51297729-C-T p.Leu293Leu synonymous ACPT 1 82824 1.20738E-5 41412 0 3.99543E-6
19-51297739-A-AG p.Ala298fs frameshift ACPT 3 82866 3.6203E-5 41433 0 1.67154E-5
19-51297744-G-A p.Ala298Thr missense ACPT 2 82908 2.41231E-5 41454 0 NA
19-51297747-CT-C p.Leu299fs frameshift ACPT 1 82940 1.20569E-5 41470 0 1.66825E-5
19-51297754-T-C p.Leu301Pro missense ACPT 1 82964 1.20534E-5 41482 0 3.9888E-6
19-51297755-C-T p.Leu301Leu synonymous ACPT 4 82962 4.82148E-5 41481 0 4.16549E-5
19-51297758-T-C p.Tyr302Tyr synonymous ACPT 1 82982 1.20508E-5 41491 0 8.32834E-6
19-51297767-C-T p.His305His synonymous ACPT 1 82968 1.20528E-5 41484 0 NA
19-51297769-C-T p.Thr306Ile missense ACPT 1 83108 1.20325E-5 41554 0 NA
19-51297769-C-A p.Thr306Asn missense ACPT 3 83108 3.60976E-5 41554 0 4.97661E-5
19-51297771-C-T p.Pro307Ser missense ACPT 1 83140 1.20279E-5 41570 0 1.65755E-5
19-51297773-G-A p.Pro307Pro synonymous ACPT 3 83138 3.60846E-5 41569 0 9.94415E-5
19-51297776-A-T p.Pro308Pro synonymous ACPT 1 83160 1.2025E-5 41580 0 3.98064E-6
19-51297777-T-C p.Tyr309His missense ACPT 1 83172 1.20233E-5 41586 0 8.27924E-6
19-51297780-GC-CT p.Ala310Leu missense ACPT 5 83182 6.01092E-5 41591 0 NA
19-51297791-C-T p.Leu313Leu synonymous ACPT 4 83216 4.80677E-5 41608 0 6.76703E-5
19-51297792-G-A p.Gly314Ser missense ACPT 9 83214 1.08155E-4 41607 0 7.44651E-5
19-51297794-C-T p.Gly314Gly synonymous ACPT 29 83216 3.48491E-4 41608 0 0.00302115
19-51297798-G-C p.Glu316Gln missense ACPT 1 83202 1.20189E-5 41601 0 3.98089E-6
19-51297804-C-T p.Arg318Trp missense ACPT 2 83188 2.40419E-5 41594 0 3.18918E-5
19-51297805-G-A p.Arg318Gln missense ACPT 1 83196 1.20198E-5 41598 0 6.25E-4
19-51297821-T-A p.Asn323Lys missense ACPT 1 83194 1.20201E-5 41597 0 6.37877E-5
19-51297824-C-T p.Pro324Pro synonymous ACPT 3 83200 3.60577E-5 41600 0 5.03525E-4
19-51297824-C-A p.Pro324Pro synonymous ACPT 2 83200 2.40385E-5 41600 0 9.56633E-5
19-51297825-G-A p.Ala325Thr missense ACPT 3262 83138 0.039236 41569 1175 0.304203
19-51297825-GC-AA p.Ala325Asn missense ACPT 17432 82962 0.21012 41481 1631 NA
19-51297826-C-A p.Ala325Asp missense ACPT 3263 83148 0.0392433 41574 1175 0.304116
19-51297832-A-T p.Asp327Val missense ACPT 2 83188 2.40419E-5 41594 0 3.98121E-6
19-51297835-G-C p.Gly328Ala missense ACPT 954 83180 0.0114691 41590 8 0.0106983
19-51297836-AG-A p.Asp327fs frameshift ACPT 1 83182 1.20218E-5 41591 0 8.28034E-6
19-51297839-G-A c.986+1G>A splice_donor ACPT 2 83184 2.40431E-5 41592 0 NA
19-51297840-T-G c.986+2T>G splice_donor ACPT 1 83166 1.20241E-5 41583 0 8.28295E-6
19-51298037-C-T c.987-6C>T splice_region ACPT 1 82996 1.20488E-5 41498 0 2.93142E-5
19-51298038-T-C c.987-5T>C splice_region ACPT 7 83002 8.43353E-5 41501 0 0.00125
19-51298053-G-A p.Val333Ile missense ACPT 1 82996 1.20488E-5 41498 0 2.61297E-5
19-51298056-T-C p.Ser334Pro missense ACPT 1 82980 1.20511E-5 41490 0 8.67905E-6
19-51298057-C-T p.Ser334Phe missense ACPT 1 83028 1.20441E-5 41514 0 NA
19-51298065-T-C p.Tyr337His missense ACPT 1 83010 1.20467E-5 41505 0 NA
19-51298067-C-T p.Tyr337Tyr synonymous ACPT 1 82992 1.20494E-5 41496 0 NA
19-51298070-CA-C p.Asn339fs frameshift ACPT 1 82974 1.2052E-5 41487 0 NA
19-51298073-T-C p.Asn339Asn synonymous ACPT 3 82986 3.61507E-5 41493 0 7.6777E-5
19-51298079-C-T p.Ser341Ser synonymous ACPT 30 82962 3.61611E-4 41481 0 0.0020141
19-51298080-G-A p.Ala342Thr missense ACPT 3 82934 3.61733E-5 41467 0 6.04561E-5
19-51298087-T-C p.Leu344Pro missense ACPT 2 83014 2.40923E-5 41507 0 5.0388E-5
19-51298088-G-A p.Leu344Leu synonymous ACPT 1 83004 1.20476E-5 41502 0 NA
19-51298090-C-T p.Pro345Leu missense ACPT 1 83058 1.20398E-5 41529 0 NA
19-51298093-T-C p.Leu346Pro missense ACPT 1 83056 1.20401E-5 41528 0 2.50488E-5
19-51298106-CCCCGGGTG-C p.Cys353fs frameshift ACPT 1 83002 1.20479E-5 41501 0 NA
19-51298109-C-T p.Pro351Pro synonymous ACPT 4 82988 4.81997E-5 41494 0 4.99293E-5
19-51298110-G-A p.Gly352Arg missense ACPT 2 82958 2.41086E-5 41479 0 NA
19-51298117-C-T p.Pro354Leu missense ACPT 13 82930 1.56759E-4 41465 0 5.41677E-4
19-51298117-C-A p.Pro354Gln missense ACPT 2 82932 2.41161E-5 41466 0 3.1917E-5
19-51298118-G-A p.Pro354Pro synonymous ACPT 2 82908 2.41231E-5 41454 0 1.66246E-5
19-51298119-GC-G p.Cys357fs frameshift ACPT 1 82900 1.20627E-5 41450 0 8.31255E-6
19-51298120-C-T p.Ala355Val missense ACPT 1 82904 1.20621E-5 41452 0 1.66218E-4
19-51298123-CCT-C p.Cys357fs frameshift ACPT 7 82894 8.44452E-5 41447 0 9.96959E-5
19-51298133-A-G p.Leu359Leu synonymous ACPT 1 82838 1.20718E-5 41419 0 8.30468E-6
19-51298138-G-A p.Arg361His missense ACPT 1 82800 1.20773E-5 41400 0 3.18857E-5
19-51298147-A-G p.Gln364Arg missense ACPT 1 82742 1.20858E-5 41371 0 3.1904E-5
19-51298149-C-T p.Leu365Leu synonymous ACPT 1 82720 1.2089E-5 41360 0 6.25E-4
19-51298159-C-T p.Pro368Leu missense ACPT 10 82634 1.21016E-4 41317 0 1.27592E-4
19-51298160-G-A p.Pro368Pro synonymous ACPT 27 82610 3.26837E-4 41305 0 6.25E-4
19-51298162-C-T p.Ala369Val missense ACPT 34 82596 4.11642E-4 41298 0 0.00151057
19-51298163-C-T p.Ala369Ala synonymous ACPT 6 82608 7.26322E-5 41304 0 5.03525E-4
19-51298164-C-T p.Arg370Trp missense ACPT 1 82612 1.21048E-5 41306 0 8.34892E-6
19-51298165-G-A p.Arg370Gln missense ACPT 3 82580 3.63284E-5 41290 0 3.60248E-5
19-51298171-C-T p.Pro372Leu missense ACPT 1 82610 1.21051E-5 41305 0 NA
19-51298172-C-T p.Pro372Pro synonymous ACPT 5 82582 6.05459E-5 41291 1 6.68639E-5
19-51298182-G-T p.Val376Phe missense ACPT 1 82616 1.21042E-5 41308 0 1.20245E-5
19-51298193-T-C p.His379His synonymous ACPT 207 82630 0.00250514 41315 4 0.00151057
19-51298202-T-A p.Tyr382* stop_gained ACPT 3 82664 3.62915E-5 41332 0 8.38153E-6
19-51298202-T-C p.Tyr382Tyr synonymous ACPT 1 82664 1.20972E-5 41332 0 6.70522E-5
19-51298203-G-A p.Glu383Lys missense ACPT 2 82678 2.41902E-5 41339 0 4.01716E-6
19-51298214-C-T p.Ile386Ile synonymous ACPT 1 82644 1.21001E-5 41322 0 8.40153E-6
19-51298218-C-T p.Pro388Ser missense ACPT 1 82688 1.20937E-5 41344 0 4.01648E-6
19-51298222-G-A c.1165+1G>A splice_donor ACPT 1 82678 1.20951E-5 41339 0 NA
19-51298223-T-G c.1165+2T>G splice_donor ACPT 5 82664 6.04858E-5 41332 0 1.09264E-4
19-51298228-G-C c.1165+7G>C splice_region ACPT 1 82652 1.20989E-5 41326 0 3.36644E-5
19-51298292-C-G c.1166-8C>G splice_region ACPT 1 82202 1.21652E-5 41101 0 NA
19-51298299-G-T c.1166-1G>T splice_acceptor ACPT 3 82106 3.65381E-5 41053 0 2.48567E-5
19-51298300-C-A p.Ala389Asp missense+splice_region ACPT 2 82098 2.43611E-5 41049 0 NA
19-51298302-C-G p.Pro390Ala missense+splice_region ACPT 2 82084 2.43653E-5 41042 0 4.17261E-6
19-51298303-C-T p.Pro390Leu missense ACPT 1 82076 1.21838E-5 41038 0 4.17254E-6
19-51298306-T-C p.Val391Ala missense ACPT 5 82036 6.09489E-5 41018 0 1.76291E-4
19-51298322-C-T p.Ala396Ala synonymous ACPT 143 81844 0.00174723 40922 0 0.00531983
19-51298325-A-G p.Gly397Gly synonymous ACPT 1 81828 1.22208E-5 40914 0 NA
19-51298327-C-T p.Ala398Val missense ACPT 8 81812 9.77852E-5 40906 0 3.60406E-5
19-51298331-A-C p.Val399Val synonymous ACPT 3 81784 3.6682E-5 40892 0 3.53907E-5
19-51298349-C-G p.Leu405Leu synonymous ACPT 1 81456 1.22766E-5 40728 0 NA
19-51298359-C-T p.Leu409Leu synonymous ACPT 1 81268 1.2305E-5 40634 0 5.29308E-6
19-51298361-G-A p.Leu409Leu synonymous ACPT 1 81242 1.23089E-5 40621 0 NA
19-51298362-GGCCTGCTGGCCTGGAGACCAGGGT-G p.Leu412_Leu419del disruptive_inframe_deletion ACPT 1 81184 1.23177E-5 40592 0 NA
19-51298365-C-A p.Leu411Met missense ACPT 6 81154 7.39335E-5 40577 0 NA
19-51298366-T-C p.Leu411Pro missense ACPT 1 81128 1.23262E-5 40564 0 NA
19-51298368-C-G p.Leu412Val missense ACPT 1 81048 1.23384E-5 40524 0 NA
19-51298369-TGGCCTGGAGACCAGGGTGCCTGCG-T p.Trp414_Ala421del disruptive_inframe_deletion ACPT 1 81060 1.23365E-5 40530 0 1.10199E-5
19-51298380-C-G p.Pro416Ala missense ACPT 1 80720 1.23885E-5 40360 0 NA
19-51298381-C-G p.Pro416Arg missense ACPT 1 80708 1.23903E-5 40354 0 3.47705E-5
19-51298383-G-C p.Gly417Arg missense ACPT 2 80618 2.48084E-5 40309 0 3.9426E-5
19-51298391-G-A p.Leu419Leu synonymous ACPT 1 80340 1.24471E-5 40170 0 0.00102459
19-51298392-C-T p.Arg420Trp missense ACPT 12 80220 1.49589E-4 40110 3 4.38327E-5
19-51298393-G-A p.Arg420Gln missense ACPT 1 80248 1.24614E-5 40124 0 4.83559E-5
19-51298399-TG-T p.Gly424fs frameshift ACPT 1 80088 1.24863E-5 40044 0 NA
19-51298399-T-TG p.Val426fs frameshift ACPT 2 80086 2.49732E-5 40043 0 3.18634E-5
19-51298400-G-A p.Leu422Leu synonymous ACPT 3 80038 3.74822E-5 40019 0 1.02712E-4
19-51298404-G-A p.Gly424Ser missense ACPT 1 79812 1.25294E-5 39906 0 NA
19-51298409-CGT-C p.Ter427fs frameshift ACPT 4 79662 5.02121E-5 39831 0 3.18552E-5
19-51298409-C-T p.Pro425Pro synonymous ACPT 1 79662 1.2553E-5 39831 0 6.63905E-6
19-51298411-T-C p.Val426Ala missense ACPT 1 79612 1.25609E-5 39806 0 NA