Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-61554457-T-A p.Met1? start_lost ACE 3 34038 8.81368E-5 17019 0 NA
17-61554460-G-T p.Gly2Val missense ACE 38 34276 0.00110865 17138 0 0.00389781
17-61554460-G-A p.Gly2Glu missense ACE 1 34296 2.91579E-5 17148 0 3.27547E-5
17-61554470-G-A p.Ser5Ser synonymous ACE 1 34928 2.86303E-5 17464 0 NA
17-61554474-C-T p.Arg7Cys missense ACE 1 35058 2.85242E-5 17529 0 NA
17-61554477-C-T p.Arg8Trp missense ACE 2 35498 5.63412E-5 17749 0 7.77001E-5
17-61554480-G-A p.Gly9Arg missense ACE 1 36208 2.76182E-5 18104 0 NA
17-61554481-G-A p.Gly9Glu missense ACE 2 36774 5.43863E-5 18387 0 2.95159E-5
17-61554487-GGCTGCTGCTGCCGCTGCCGCTGCTGTT-G p.Leu14_Leu22del disruptive_inframe_deletion ACE 2 37794 5.29185E-5 18897 0 3.32568E-5
17-61554489-CTGCTGCTGCCGCTGCCGCTGCTGT-C p.Leu16_Pro23del disruptive_inframe_deletion ACE 4 37858 1.05658E-4 18929 0 1.27372E-4
17-61554493-T-TGCTGCC p.Pro17_Leu18dup disruptive_inframe_insertion ACE 210 38376 0.00547217 19188 1 0.0601425
17-61554493-TGCTGCC-T p.Pro17_Leu18del disruptive_inframe_deletion ACE 1 38384 2.60525E-5 19192 0 2.09556E-4
17-61554499-C-CGCTGCCGCTGCTGTT p.Pro17_Leu21dup disruptive_inframe_insertion ACE 1 38822 2.57586E-5 19411 0 1.35223E-5
17-61554500-G-C p.Pro15Pro synonymous ACE 43 38870 0.00110625 19435 0 0.00238379
17-61554512-G-A p.Leu19Leu synonymous ACE 1 39758 2.51522E-5 19879 0 2.52551E-5
17-61554513-TTGCTGCTGCCG-T p.Leu20fs frameshift ACE 2 39760 5.03018E-5 19880 0 1.03907E-4
17-61554519-C-G p.Leu22Val missense ACE 1 39960 2.5025E-5 19980 0 NA
17-61554522-C-G p.Pro23Ala missense ACE 1 40122 2.4924E-5 20061 0 NA
17-61554535-C-T p.Ala27Val missense ACE 5 41110 1.21625E-4 20555 0 2.30384E-4
17-61554542-G-A p.Ala29Ala synonymous ACE 1 41672 2.39969E-5 20836 0 8.76271E-5
17-61554547-AC-A p.Leu34fs frameshift ACE 1 42104 2.37507E-5 21052 0 2.03529E-5
17-61554554-G-T p.Gly33Gly synonymous ACE 1 42668 2.34368E-5 21334 0 NA
17-61554577-C-T p.Ala41Val missense ACE 2 45248 4.42008E-5 22624 0 NA
17-61554585-G-A p.Ala44Thr missense ACE 1 46110 2.16873E-5 23055 0 6.60502E-5
17-61554586-C-T p.Ala44Val missense ACE 1 46194 2.16478E-5 23097 0 NA
17-61554587-C-T p.Ala44Ala synonymous ACE 1 46376 2.15629E-5 23188 0 3.30732E-5
17-61554588-G-C p.Gly45Arg missense ACE 3 46512 6.44995E-5 23256 0 6.54193E-5
17-61554591-G-A p.Ala46Thr missense ACE 1 46684 2.14206E-5 23342 0 3.30753E-5
17-61554595-A-G p.Gln47Arg missense ACE 1 47046 2.12558E-5 23523 0 1.239E-4
17-61554602-C-A p.Phe49Leu missense ACE 2 47642 4.19798E-5 23821 1 2.43902E-4
17-61554603-G-A p.Ala50Thr missense ACE 1 47522 2.10429E-5 23761 0 NA
17-61554607-A-G p.Gln51Arg missense ACE 2 48086 4.15921E-5 24043 0 NA
17-61554611-C-A p.Ser52Arg missense ACE 19 48422 3.92384E-4 24211 0 0.00204918
17-61554618-T-G p.Ser55Ala missense ACE 1 48492 2.0622E-5 24246 0 NA
17-61554624-G-A p.Ala57Thr missense ACE 1 48402 2.06603E-5 24201 0 NA
17-61554630-C-T p.Gln59* stop_gained ACE 2 48238 4.14611E-5 24119 0 7.96876E-6
17-61554632-G-A p.Gln59Gln synonymous ACE 24 48018 4.99813E-4 24009 0 0.00483744
17-61554636-C-T p.Leu61Leu synonymous ACE 1 47854 2.08969E-5 23927 0 0.00154162
17-61554638-G-C p.Leu61Leu synonymous ACE 2 47704 4.19252E-5 23852 0 NA
17-61554648-G-A p.Val65Met missense ACE 1 46116 2.16844E-5 23058 0 1.76775E-5
17-61554650-G-C p.Val65Val synonymous ACE 1 45916 2.17789E-5 22958 0 3.36247E-5
17-61554653-C-T p.Ala66Ala synonymous ACE 1 45514 2.19713E-5 22757 0 NA
17-61554658-G-A p.Ser68Asn missense ACE 1 45190 2.21288E-5 22595 0 NA
17-61554659-C-G p.Ser68Arg missense ACE 3 45088 6.65366E-5 22544 0 4.69757E-5
17-61554664-C-T p.Ala70Val missense ACE 18 44138 4.07812E-4 22069 1 0.00136472
17-61554666-C-T p.His71Tyr missense ACE 1 44028 2.27128E-5 22014 0 6.15839E-5
17-61554668-C-G p.His71Gln missense ACE 10 43688 2.28896E-4 21844 0 0.00104058
17-61554669-G-T p.Asp72Tyr missense ACE 1 43632 2.2919E-5 21816 0 1.86289E-4
17-61554669-G-A p.Asp72Asn missense ACE 1 43632 2.2919E-5 21816 0 NA
17-61554678-A-G p.Ile75Val missense ACE 1 42522 2.35172E-5 21261 0 NA
17-61554684-G-A p.Ala77Thr missense ACE 1 40656 2.45966E-5 20328 0 3.42912E-5
17-61554686-G-A p.Ala77Ala synonymous ACE 342 40502 0.00844403 20251 4 0.0182672
17-61554686-G-T p.Ala77Ala synonymous ACE 1 40536 2.46694E-5 20268 0 3.61072E-5
17-61554686-G-C p.Ala77Ala synonymous ACE 1 40536 2.46694E-5 20268 0 NA
17-61554693-G-A p.Ala80Thr missense ACE 1 39066 2.55977E-5 19533 0 NA
17-61554695-A-G p.Ala80Ala synonymous ACE 11 38766 2.83754E-4 19383 0 0.00125313
17-61554697-G-A p.Arg81Lys missense ACE 1 38506 2.597E-5 19253 0 NA
17-61554712-C-G c.249+8C>G splice_region ACE 1 35530 2.81452E-5 17765 0 NA
17-61554911-G-A p.Glu3Glu synonymous ACE 3 15506 1.93473E-4 7753 0 4.48977E-4
17-61554912-G-C p.Gly4Arg missense ACE 2 15394 1.29921E-4 7697 0 NA
17-61554913-G-C p.Gly4Ala missense ACE 565 15158 0.037274 7579 24 0.0767675
17-61554929-C-G p.Ala9Ala synonymous ACE 1 14268 7.00869E-5 7134 0 6.40574E-5
17-61554933-C-T p.Pro11Ser missense ACE 1 14102 7.09119E-5 7051 0 NA
17-61554936-G-A p.Ala12Thr missense ACE 1 13862 7.21397E-5 6931 0 NA
17-61554970-C-T p.Ala23Val missense ACE 1 16168 6.18506E-5 8084 0 1.26346E-4
17-61554972-C-T p.Pro24Ser missense ACE 22 16336 0.00134672 8168 0 0.00107419
17-61554984-G-A p.Gly28Ser missense ACE 1 17076 5.85617E-5 8538 0 NA
17-61554988-G-A p.Ser29Asn missense ACE 1 17476 5.72213E-5 8738 0 7.04887E-5
17-61555009-GC-G p.Cys37fs frameshift ACE 1 20348 4.91449E-5 10174 0 NA
17-61555025-TCACCGC-T p.His42_Arg43del conservative_inframe_deletion ACE 1 24094 4.15041E-5 12047 0 NA
17-61555027-A-T p.His42Leu missense ACE 2 24466 8.17461E-5 12233 0 3.54233E-4
17-61555051-C-T p.Pro50Leu missense ACE 1 32440 3.08261E-5 16220 0 NA
17-61555058-C-T p.Leu52Leu synonymous ACE 1 34878 2.86714E-5 17439 0 6.37796E-5
17-61555063-G-C p.Arg54Pro missense ACE 1 37348 2.67752E-5 18674 0 NA
17-61555075-G-A p.Trp58* stop_gained ACE 4 43566 9.18147E-5 21783 0 NA
17-61555097-T-A p.His65Gln missense ACE 2 55018 3.63517E-5 27509 0 1.91339E-4
17-61555117-T-C p.Leu72Pro missense ACE 1 65052 1.53723E-5 32526 0 NA
17-61555120-A-G p.Gln73Arg missense ACE 8 66284 1.20693E-4 33142 0 3.18857E-5
17-61555141-C-G p.Pro80Arg missense ACE 2 71942 2.78002E-5 35971 0 NA
17-61555147-C-T p.Thr82Ile missense ACE 2 73290 2.72889E-5 36645 0 1.0939E-5
17-61555156-C-G p.Ser85Cys missense ACE 1 74900 1.33511E-5 37450 0 1.89505E-5
17-61555173-A-G p.Arg91Gly missense ACE 1 76714 1.30354E-5 38357 0 NA
17-61555176-G-C p.Ala92Pro missense ACE 9 76856 1.17102E-4 38428 0 0.00291545
17-61555180-G-C p.Arg93Pro missense ACE 2 77142 2.59262E-5 38571 0 NA
17-61555182-G-T p.Ala94Ser missense ACE 244 77248 0.00315866 38624 3 0.00901733
17-61555194-C-T p.Leu98Phe missense ACE 1 77918 1.2834E-5 38959 0 NA
17-61555201-T-C p.Leu100Pro missense ACE 2 78324 2.5535E-5 39162 0 7.86906E-5
17-61555208-C-T p.Pro102Pro synonymous ACE 2 78670 2.54227E-5 39335 0 NA
17-61555211-C-T p.Leu103Leu synonymous ACE 1 78862 1.26804E-5 39431 0 NA
17-61555215-C-T p.Gln105* stop_gained ACE 1 79048 1.26505E-5 39524 0 NA
17-61555218-C-A p.His106Asn missense ACE 2 79206 2.52506E-5 39603 0 6.3857E-4
17-61555220-C-T p.His106His synonymous ACE 4 79290 5.04477E-5 39645 0 2.54459E-5
17-61555225-G-A p.Gly108Asp missense ACE 1 79636 1.25571E-5 39818 0 NA
17-61555225-GCTT-G p.Phe109del disruptive_inframe_deletion ACE 1 79636 1.25571E-5 39818 0 NA
17-61555238-G-A p.Met112Ile missense ACE 1 80108 1.24831E-5 40054 0 NA
17-61555241-C-T p.Ala113Ala synonymous ACE 1 80264 1.24589E-5 40132 0 NA
17-61555284-C-T c.250-8C>T splice_region ACE 49 81542 6.00917E-4 40771 0 7.85433E-4
17-61555295-G-A p.Glu85Lys missense ACE 3 81730 3.67062E-5 40865 0 0.00201816
17-61555309-C-T p.Leu89Leu synonymous ACE 3 81868 3.66444E-5 40934 0 NA
17-61555315-G-T p.Gln91His missense ACE 1 81900 1.221E-5 40950 0 NA
17-61555317-A-G p.Glu92Gly missense ACE 1 81884 1.22124E-5 40942 0 1.11245E-5
17-61555329-C-T p.Ala96Val missense ACE 1 81894 1.22109E-5 40947 0 4.06511E-6
17-61555334-G-A p.Gly98Ser missense ACE 1 81944 1.22035E-5 40972 0 NA
17-61555343-G-A p.Ala101Thr missense ACE 1 81914 1.22079E-5 40957 0 2.13534E-5
17-61555348-G-A p.Lys102Lys synonymous ACE 5 81926 6.10307E-5 40963 0 1.07269E-5
17-61555367-T-G p.Trp109Gly missense ACE 2 81822 2.44433E-5 40911 0 NA
17-61555387-G-A p.Pro115Pro synonymous ACE 1 81546 1.2263E-5 40773 0 NA
17-61555391-C-T p.Leu117Leu synonymous ACE 16 81450 1.9644E-4 40725 0 1.75856E-4
17-61555400-A-T p.Ile120Phe missense ACE 2 81244 2.46172E-5 40622 0 2.92706E-5
17-61555403-A-G p.Ile121Val missense ACE 5 81186 6.1587E-5 40593 0 9.55292E-5
17-61555408-A-G p.Gly122Gly synonymous ACE 1 80938 1.23551E-5 40469 0 4.38001E-6
17-61555416-G-C p.Arg125Pro missense ACE 2 80486 2.4849E-5 40243 0 NA
17-61555431-C-A p.Ala130Asp missense ACE 3 79734 3.76251E-5 39867 0 6.25E-4
17-61555444-G-GGCT p.Ala135dup conservative_inframe_insertion ACE 1 79182 1.26291E-5 39591 0 9.90727E-6
17-61555445-G-A p.Ala135Thr missense ACE 2 79062 2.52966E-5 39531 0 2.39981E-5
17-61555453-G-T p.Arg137Arg synonymous ACE 33 78358 4.21144E-4 39179 0 0.00256148
17-61555454-C-T p.Gln138* stop_gained ACE 2 78328 2.55337E-5 39164 0 2.73418E-5
17-61555463-G-A c.417+4G>A splice_region ACE 1 77662 1.28763E-5 38831 0 1.46505E-4
17-61555466-T-A c.417+7T>A splice_region ACE 1 77430 1.29149E-5 38715 0 NA
17-61555467-G-A c.417+8G>A splice_region ACE 148 77346 0.00191348 38673 0 0.0038535
17-61556165-T-A n.452-7T>A splice_region ACE 7 36916 1.8962E-4 18458 0 7.0162E-4
17-61556166-C-G n.452-6C>G splice_region ACE 3 37462 8.00811E-5 18731 0 1.91192E-4
17-61556259-G-A n.539G>A splice_region ACE 3 75876 3.95382E-5 37938 0 6.25E-4
17-61556373-C-A p.Asn141Lys missense ACE 1 82700 1.20919E-5 41350 0 NA
17-61556391-G-GAGCTT p.Arg149fs frameshift ACE 6 82866 7.24061E-5 41433 0 6.3861E-5
17-61556393-G-A p.Ser148Asn missense ACE 1 82870 1.20671E-5 41435 0 8.84517E-6
17-61556397-G-A p.Arg149Arg synonymous ACE 1 82884 1.20651E-5 41442 0 NA
17-61556407-A-G p.Thr153Ala missense ACE 2 82862 2.41365E-5 41431 0 9.60123E-5
17-61556409-C-T p.Thr153Thr synonymous ACE 1 82912 1.2061E-5 41456 0 3.99135E-6
17-61556410-G-A p.Ala154Thr missense ACE 30 82916 3.61812E-4 41458 0 0.00251762
17-61556415-G-C p.Lys155Asn missense ACE 46 82896 5.54912E-4 41448 0 0.0025
17-61556420-G-C p.Cys157Ser missense ACE 1 82874 1.20665E-5 41437 0 NA
17-61556422-C-T p.Leu158Phe missense ACE 1 82872 1.20668E-5 41436 0 NA
17-61556424-C-T p.Leu158Leu synonymous ACE 17 82874 2.05131E-4 41437 0 8.61354E-4
17-61556425-C-G p.Pro159Ala missense ACE 1 82876 1.20662E-5 41438 0 NA
17-61556427-C-T p.Pro159Pro synonymous ACE 6 82862 7.24096E-5 41431 0 3.2365E-4
17-61556429-A-G p.Asn160Ser missense ACE 32 82842 3.86278E-4 41421 1 0.00157901
17-61556435-C-G p.Thr162Ser missense ACE 1 82822 1.20741E-5 41411 0 4.00314E-6
17-61556450-C-G p.Ser167Cys missense ACE 1 82714 1.20899E-5 41357 0 NA
17-61556453-T-C p.Leu168Pro missense ACE 60 82690 7.25602E-4 41345 1 4.1507E-4
17-61556457-C-T p.Asp169Asp synonymous ACE 5 82638 6.05049E-5 41319 0 2.83112E-5
17-61556466-G-A c.511+5G>A splice_region ACE 6 82502 7.27255E-5 41251 0 3.29031E-5
17-61557125-C-T c.512-5C>T splice_region ACE 1 82774 1.20811E-5 41387 0 NA
17-61557150-TC-T p.Ser179fs frameshift ACE 1 82990 1.20496E-5 41495 0 3.98464E-6
17-61557154-C-T p.Ser179Leu missense ACE 2 82976 2.41034E-5 41488 0 8.29132E-6
17-61557155-G-T p.Arg148Leu missense ACE 28 82970 3.37471E-4 41485 0 4.14118E-4
17-61557155-G-A p.Arg148His missense ACE 3 82970 3.61576E-5 41485 0 4.78297E-5
17-61557157-G-A p.Arg180Gln missense ACE 5 82980 6.02555E-5 41490 0 9.55718E-5
17-61557164-C-T p.Thr151Met missense ACE 1 83028 1.20441E-5 41514 0 5.18023E-5
17-61557165-G-A p.Ala183Thr missense ACE 65 83026 7.82887E-4 41513 0 0.00143385
17-61557167-C-G p.Pro152Arg missense ACE 2 83046 2.4083E-5 41523 0 1.27501E-4
17-61557171-C-T p.Leu185Phe missense ACE 1 83050 1.20409E-5 41525 0 6.37146E-5
17-61557186-G-C p.Glu190Gln missense ACE 1 83030 1.20438E-5 41515 0 1.19587E-5
17-61557191-C-T p.Ala160Val missense ACE 2 83026 2.40888E-5 41513 0 NA
17-61557196-A-G p.His193Arg missense ACE 2 83016 2.40917E-5 41508 0 3.98746E-6
17-61557200-C-T p.Thr163Met missense ACE 8769 82880 0.105804 41440 764 0.148507
17-61557200-CGC-TGA p.AsnAla194AsnAsp missense ACE 1 83018 1.20456E-5 41509 0 NA
17-61557201-G-A p.Ala195Thr missense ACE 2 83002 2.40958E-5 41501 0 6.37146E-5
17-61557202-C-T p.Ala195Val missense ACE 1 83004 1.20476E-5 41502 0 8.30813E-5
17-61557206-G-A p.Arg165Gln missense ACE 4 83004 4.81904E-5 41502 0 5.03525E-4
17-61557214-C-T p.Pro199Leu missense ACE 1 82994 1.20491E-5 41497 0 5.03525E-4
17-61557215-G-A p.Arg168His missense ACE 6 82990 7.22979E-5 41495 0 1.67009E-5
17-61557218-G-A p.Ter169Ter stop_retained ACE 45 82984 5.42273E-4 41492 1 0.00140172
17-61557222-C-G p.Pro202Ala missense ACE 1 82976 1.20517E-5 41488 0 NA
17-61557223-C-T p.Pro202Leu missense ACE 39 82972 4.70038E-4 41486 0 0.00143358
17-61557224-G-T p.Pro202Pro synonymous ACE 1 82956 1.20546E-5 41478 0 1.68172E-5
17-61557228-T-A p.Tyr204Asn missense ACE 1 82948 1.20557E-5 41474 0 NA
17-61557230-C-T p.Tyr204Tyr synonymous ACE 4 82930 4.82335E-5 41465 0 5.03525E-4
17-61557231-G-A p.Glu205Lys missense ACE 4 82932 4.82323E-5 41466 0 9.55962E-5
17-61557243-G-A p.Ala209Thr missense ACE 2 82854 2.41388E-5 41427 0 1.74174E-5
17-61557245-C-T p.Ala209Ala synonymous ACE 2 82836 2.41441E-5 41418 0 8.02221E-6
17-61557246-C-T p.Leu210Phe missense ACE 1 82850 1.207E-5 41425 0 NA
17-61557258-G-A p.Ala214Thr missense ACE 1 82740 1.20861E-5 41370 0 3.227E-5
17-61557272-C-T p.Asp218Asp splice_region+synonymous ACE 2 82500 2.42424E-5 41250 0 4.19349E-5
17-61557272-C-A p.Asp218Glu missense+splice_region ACE 1 82500 1.21212E-5 41250 0 5.03525E-4
17-61557690-G-A c.656-8G>A splice_region ACE 1 83022 1.2045E-5 41511 0 3.18837E-5
17-61557705-A-C p.Thr221Thr synonymous ACE 2 83122 2.4061E-5 41561 0 4.13688E-5
17-61557710-C-T p.Thr223Met missense ACE 3 83136 3.60855E-5 41568 0 1.1951E-5
17-61557711-G-A p.Thr223Thr synonymous ACE 1 83138 1.20282E-5 41569 0 3.18756E-5
17-61557715-G-T p.Ala225Ser missense ACE 3 83162 3.60742E-5 41581 0 6.61102E-5
17-61557718-T-C p.Tyr226His missense ACE 2 83186 2.40425E-5 41593 0 8.26064E-6
17-61557724-C-T p.Arg228Cys missense ACE 34 83184 4.08732E-4 41592 0 2.42838E-4
17-61557728-C-T p.Ser229Phe missense ACE 1 83206 1.20184E-5 41603 0 3.97997E-6
17-61557732-G-T p.Trp230Cys missense ACE 1 83212 1.20175E-5 41606 0 7.95982E-6
17-61557742-C-T p.Pro234Ser missense ACE 3 83216 3.60508E-5 41608 0 8.24974E-6
17-61557744-C-T p.Pro234Pro synonymous ACE 2 83224 2.40315E-5 41612 0 8.24919E-6
17-61557746-C-A p.Thr235Asn missense ACE 1 83230 1.20149E-5 41615 0 NA
17-61557750-C-T p.Phe236Phe synonymous ACE 3 83238 3.60412E-5 41619 0 8.24797E-5
17-61557751-G-A p.Glu237Lys missense ACE 1 83238 1.20137E-5 41619 0 5.03525E-4
17-61557756-C-T p.Asp238Asp synonymous ACE 4 83236 4.80561E-5 41618 0 5.03525E-4
17-61557762-G-A p.Leu240Leu synonymous ACE 1 83250 1.2012E-5 41625 0 NA
17-61557771-C-A p.Leu243Leu synonymous ACE 2 83248 2.40246E-5 41624 0 4.77327E-5
17-61557773-A-G p.Tyr244Cys missense ACE 863 83228 0.0103691 41614 6 0.0124665
17-61557781-C-T p.Leu247Leu synonymous ACE 1 83240 1.20135E-5 41620 0 1.64867E-5
17-61557783-A-G p.Leu247Leu synonymous ACE 1 83238 1.20137E-5 41619 0 3.97747E-6
17-61557790-C-G p.Leu250Val missense ACE 1 83246 1.20126E-5 41623 0 5.03525E-4
17-61557796-C-T p.Leu252Leu synonymous ACE 2 83230 2.40298E-5 41615 0 3.97741E-6
17-61557802-C-T p.Leu254Phe missense ACE 1 83244 1.20129E-5 41622 0 8.24158E-6
17-61557803-T-C p.Leu254Pro missense ACE 1 83234 1.20143E-5 41617 0 NA
17-61557804-C-G p.Leu254Leu synonymous ACE 1 83240 1.20135E-5 41620 0 2.47247E-5
17-61557804-C-T p.Leu254Leu synonymous ACE 1 83240 1.20135E-5 41620 0 8.24158E-6
17-61557813-C-T p.Phe257Phe synonymous ACE 1 83220 1.20163E-5 41610 0 2.47239E-5
17-61557814-G-A p.Val258Ile missense ACE 1 83224 1.20158E-5 41612 0 8.24103E-6
17-61557817-C-T p.Arg259Cys missense ACE 2 83234 2.40286E-5 41617 0 6.37064E-5
17-61557821-G-A p.Arg260His missense ACE 4 83222 4.80642E-5 41611 0 2.38705E-5
17-61557822-C-T p.Arg260Arg synonymous ACE 306 83214 0.00367727 41607 3 0.00783439
17-61557823-G-T p.Ala261Ser missense ACE 1030 83206 0.0123789 41603 25 0.0283283
17-61557823-G-A p.Ala261Thr missense ACE 2 83226 2.4031E-5 41613 0 1.98916E-5
17-61557832-C-T p.Arg264Cys missense ACE 1 83240 1.20135E-5 41620 0 3.18573E-5
17-61557833-G-A p.Arg264His missense ACE 4 83234 4.80573E-5 41617 0 8.24022E-6
17-61557835-C-T p.Arg265* stop_gained ACE 2 83230 2.40298E-5 41615 0 3.18492E-5
17-61557836-G-A p.Arg265Gln missense ACE 4 83234 4.80573E-5 41617 0 3.97855E-6
17-61557841-G-A p.Gly267Arg missense ACE 41 83234 4.92587E-4 41617 0 3.50452E-4
17-61557853-A-G p.Ile271Val missense ACE 1 83240 1.20135E-5 41620 0 1.64799E-5
17-61557861-CAG-C p.Arg274fs frameshift ACE 2 83210 2.40356E-5 41605 0 3.98092E-6
17-61557861-C-T p.Leu273Leu synonymous ACE 2 83210 2.40356E-5 41605 0 3.18573E-5
17-61557866-G-A p.Gly275Glu missense ACE 1 83184 1.20215E-5 41592 0 NA
17-61557876-T-C p.Pro278Pro synonymous ACE 3 83176 3.60681E-5 41588 0 3.18471E-5
17-61557879-T-C p.Ala279Ala synonymous ACE 4 83174 4.8092E-5 41587 0 NA
17-61557883-C-T p.Leu281Leu synonymous ACE 1 83166 1.20241E-5 41583 0 3.98413E-6
17-61557889-G-A p.Gly283Arg missense+splice_region ACE 1 83134 1.20288E-5 41567 0 NA
17-61557894-G-A c.847+5G>A splice_region ACE 1 83118 1.20311E-5 41559 0 NA
17-61558458-T-C p.Met285Thr missense ACE 2 82962 2.41074E-5 41481 0 1.19362E-5
17-61558464-C-T p.Ala287Val missense ACE 1 83002 1.20479E-5 41501 0 8.27185E-6
17-61558466-C-T p.Gln288* stop_gained ACE 1 83022 1.2045E-5 41511 0 NA
17-61558486-C-T p.Tyr294Tyr synonymous ACE 4 83098 4.81359E-5 41549 0 6.37918E-5
17-61558487-G-A p.Asp295Asn missense ACE 3 83102 3.61002E-5 41551 0 6.38244E-5
17-61558490-A-G p.Met296Val missense ACE 2 83108 2.40651E-5 41554 0 3.97776E-6
17-61558493-G-A p.Val297Met missense ACE 3 83118 3.60933E-5 41559 0 6.25E-4
17-61558496-G-A p.Val298Met missense ACE 1 83110 1.20322E-5 41555 0 7.95583E-6
17-61558496-G-T p.Val298Leu missense ACE 1 83110 1.20322E-5 41555 0 8.26733E-6
17-61558500-CT-C p.Phe300fs frameshift ACE 4 83100 4.81348E-5 41550 0 3.97779E-6
17-61558512-A-G p.Lys303Arg missense ACE 1 83066 1.20386E-5 41533 0 NA
17-61558517-A-C p.Asn305His missense ACE 2 83046 2.4083E-5 41523 0 NA
17-61558518-A-G p.Asn305Ser missense ACE 2 83042 2.40842E-5 41521 0 6.4082E-5
17-61558523-G-A p.Asp307Asn missense ACE 2 83018 2.40912E-5 41509 0 3.19795E-5
17-61558523-G-C p.Asp307His missense ACE 1 83018 1.20456E-5 41509 0 NA
17-61558532-A-G p.Ser310Gly missense ACE 4 82952 4.82207E-5 41476 0 2.56746E-4
17-61558533-G-A p.Ser310Asn missense ACE 3 82934 3.61733E-5 41467 0 8.28349E-6
17-61558538-A-G p.Met312Val missense ACE 3 82866 3.6203E-5 41433 0 0.00100806
17-61558935-C-T p.Asn318Asn synonymous ACE 1 82742 1.20858E-5 41371 0 3.4222E-5
17-61558936-G-T p.Ala319Ser missense ACE 123 82766 0.00148612 41383 1 0.00375
17-61558936-G-A p.Ala319Thr missense ACE 3 82768 3.62459E-5 41384 0 3.59284E-5
17-61558940-C-G p.Thr320Arg missense ACE 1 82842 1.20712E-5 41421 0 7.97951E-6
17-61558941-G-A p.Thr320Thr synonymous ACE 6 82864 7.24078E-5 41432 0 0.001875
17-61558944-C-T p.His321His synonymous ACE 1 82934 1.20578E-5 41467 0 8.45423E-6
17-61558951-C-T p.Arg324Trp missense ACE 323 82968 0.00389307 41484 2 0.00806452
17-61558952-G-A p.Arg324Gln missense ACE 1 82982 1.20508E-5 41491 0 4.20925E-5
17-61558955-T-A p.Val325Glu missense ACE 1 82998 1.20485E-5 41499 0 NA
17-61558956-G-T p.Val325Val synonymous ACE 797 82990 0.00960357 41495 8 0.00806452
17-61558959-AGAG-A p.Glu328del conservative_inframe_deletion ACE 1 83046 1.20415E-5 41523 0 NA
17-61558973-C-T p.Thr331Ile missense ACE 2 83158 2.40506E-5 41579 0 NA
17-61558974-C-T p.Thr331Thr synonymous ACE 2 83160 2.405E-5 41580 0 NA
17-61558977-C-T p.Ser332Ser synonymous ACE 3 83182 3.60655E-5 41591 0 1.19446E-5
17-61558978-C-G p.Leu333Val missense ACE 1 83182 1.20218E-5 41591 0 NA
17-61558979-T-A p.Leu333Gln missense ACE 1 83182 1.20218E-5 41591 0 8.32141E-6
17-61558993-A-G p.Met338Val missense ACE 1 83204 1.20187E-5 41602 0 3.98035E-6
17-61559001-C-T p.Pro340Pro synonymous ACE 6 83222 7.20963E-5 41611 0 0.00100705
17-61559002-G-C p.Glu341Gln missense ACE 2 83226 2.4031E-5 41613 0 6.37308E-5
17-61559002-G-A p.Glu341Lys missense ACE 5 83226 6.00774E-5 41613 0 3.31702E-5
17-61559007-C-T p.Phe342Phe synonymous ACE 1 83234 1.20143E-5 41617 0 3.98026E-6
17-61559008-T-TGGGA p.Ser346fs frameshift ACE 1 83230 1.20149E-5 41615 0 NA
17-61559016-G-A p.Gly345Gly synonymous ACE 1 83232 1.20146E-5 41616 0 NA
17-61559019-G-C p.Ser346Ser synonymous ACE 645 83216 0.00775091 41608 3 0.0473313
17-61559019-G-A p.Ser346Ser synonymous ACE 1 83226 1.20155E-5 41613 0 3.97981E-6
17-61559033-C-T p.Pro351Leu missense ACE 19 83256 2.28212E-4 41628 0 0.00125
17-61559034-G-A p.Pro351Pro synonymous ACE 5 83260 6.00528E-5 41630 0 1.65467E-5
17-61559037-C-T p.Ala352Ala synonymous ACE 5 83248 6.00615E-5 41624 0 9.56633E-5
17-61559038-G-A p.Asp353Asn missense ACE 10 83254 1.20114E-4 41627 0 5.05388E-4
17-61559040-C-T p.Asp353Asp synonymous ACE 1 83248 1.20123E-5 41624 0 3.18817E-5
17-61559041-G-A p.Gly354Arg missense ACE 583 83244 0.00700351 41622 0 0.00802906
17-61559043-G-C p.Gly354Gly synonymous ACE 1 83248 1.20123E-5 41624 0 1.19376E-5
17-61559044-C-T p.Arg355Trp missense ACE 12 83244 1.44155E-4 41622 0 6.25E-4
17-61559045-G-A p.Arg355Gln missense ACE 7 83246 8.40881E-5 41623 0 6.37186E-5
17-61559059-C-T p.His360Tyr missense ACE 2 83214 2.40344E-5 41607 0 8.2687E-6
17-61559062-G-A p.Ala361Thr missense ACE 7 83172 8.41629E-5 41586 0 5.97043E-5
17-61559066-C-G p.Ser362Trp missense ACE 3 83168 3.60716E-5 41584 0 2.23001E-4
17-61559066-C-T p.Ser362Leu missense ACE 1 83168 1.20239E-5 41584 0 3.18573E-5
17-61559067-G-A p.Ser362Ser synonymous ACE 1 83170 1.20236E-5 41585 0 1.6539E-5
17-61559069-C-T p.Ala363Val missense ACE 6 83162 7.21483E-5 41581 0 1.6542E-5
17-61559079-C-T p.Phe366Phe synonymous ACE 21 83042 2.52884E-4 41521 0 0.00100705
17-61559084-A-G p.Asn368Ser missense ACE 8 82968 9.64227E-5 41484 0 2.48307E-5
17-61559098-A-G p.Arg373Gly missense+splice_region ACE 1 82842 1.20712E-5 41421 0 NA
17-61559819-C-T c.1119-8C>T splice_region ACE 363 81198 0.00447055 40599 2 0.00803828
17-61559820-G-A c.1119-7G>A splice_region ACE 1 81164 1.23207E-5 40582 0 3.9993E-6
17-61559843-C-T p.Arg379Trp missense ACE 6 82430 7.2789E-5 41215 0 9.58405E-5
17-61559844-G-A p.Arg379Gln missense ACE 7 82454 8.48958E-5 41227 0 0.001875
17-61559850-C-T p.Thr381Met missense ACE 41 82616 4.96272E-4 41308 0 8.47977E-4
17-61559851-G-A p.Thr381Thr synonymous ACE 2 82676 2.41908E-5 41338 0 1.65972E-5
17-61559855-G-T p.Asp383Tyr missense ACE 2 82746 2.41704E-5 41373 0 NA
17-61559877-A-G p.His390Arg missense ACE 1 82988 1.20499E-5 41494 0 NA
17-61559881-G-A p.Glu391Glu synonymous ACE 1 83006 1.20473E-5 41503 0 8.25968E-6
17-61559883-T-C p.Met392Thr missense ACE 1 83016 1.20459E-5 41508 0 3.97814E-5
17-61559897-T-C p.Tyr397His missense ACE 1 83082 1.20363E-5 41541 0 NA
17-61559906-C-A p.Gln400Lys missense ACE 1 83098 1.2034E-5 41549 0 3.18796E-5
17-61559908-G-A p.Gln400Gln synonymous ACE 1 83106 1.20328E-5 41553 0 1.19328E-5
17-61559914-G-A p.Lys402Lys synonymous ACE 2 83120 2.40616E-5 41560 0 3.57978E-5
17-61559922-C-G p.Pro405Arg missense ACE 1 83112 1.2032E-5 41556 0 1.64965E-5
17-61559923-C-T p.Pro405Pro synonymous ACE 32299 82752 0.390311 41376 6758 0.457115
17-61559924-G-A p.Val406Ile missense ACE 10 83114 1.20317E-4 41557 0 3.06282E-4
17-61559928-C-T p.Ser407Phe missense ACE 1 83110 1.20322E-5 41555 0 3.18552E-5
17-61559929-C-T p.Ser407Ser synonymous ACE 3 83124 3.60907E-5 41562 0 1.59101E-5
17-61559930-C-G p.Leu408Val missense ACE 2 83132 2.40581E-5 41566 0 NA
17-61559932-G-A p.Leu408Leu synonymous ACE 1 83120 1.20308E-5 41560 0 7.95526E-6
17-61559933-C-T p.Arg409Cys missense ACE 3 83116 3.60941E-5 41558 0 3.2981E-5
17-61559934-G-A p.Arg409His missense ACE 4 83104 4.81325E-5 41552 0 0.00125
17-61559935-T-C p.Arg409Arg synonymous ACE 8 83100 9.62696E-5 41550 0 5.77186E-5
17-61559936-C-T p.Arg410Trp missense ACE 2 83108 2.40651E-5 41554 0 0.00100705
17-61559937-G-A p.Arg410Gln missense ACE 34 83100 4.09146E-4 41550 0 6.05713E-4
17-61559950-C-T p.Pro414Pro synonymous ACE 13 83112 1.56415E-4 41556 0 3.50519E-4
17-61559951-G-A p.Gly415Ser missense ACE 8 83102 9.62672E-5 41551 0 6.25E-4
17-61559952-G-A p.Gly415Asp missense ACE 1 83106 1.20328E-5 41553 0 3.97747E-6
17-61559962-G-C p.Glu418Asp missense ACE 1 83098 1.2034E-5 41549 0 NA
17-61559967-T-C p.Ile420Thr missense ACE 21 83074 2.52787E-4 41537 0 5.03525E-4
17-61559974-C-T p.Asp422Asp synonymous ACE 1 83070 1.2038E-5 41535 0 3.18878E-5
17-61559975-G-A p.Val423Met missense ACE 1 83066 1.20386E-5 41533 0 7.55792E-5
17-61559982-C-T p.Ala425Val missense ACE 2 83042 2.40842E-5 41521 0 6.25391E-4
17-61559983-G-A p.Ala425Ala synonymous ACE 3 83032 3.61306E-5 41516 0 5.03525E-4
17-61559988-C-T p.Ser427Leu missense ACE 1 83028 1.20441E-5 41514 0 2.38692E-5
17-61559991-T-G p.Val428Gly missense ACE 1 82998 1.20485E-5 41499 0 9.56877E-5
17-61559998-TC-T p.Pro431fs frameshift ACE 1 83002 1.20479E-5 41501 0 NA
17-61560006-A-G p.His433Arg missense ACE 1 82968 1.20528E-5 41484 0 8.26815E-6
17-61560008-C-G p.Leu434Val missense ACE 1 82964 1.20534E-5 41482 0 1.07416E-4
17-61560010-G-A p.Leu434Leu synonymous ACE 1 82936 1.20575E-5 41468 0 3.18756E-5
17-61560013-C-T p.His435His synonymous ACE 3 82900 3.61882E-5 41450 0 3.97902E-6
17-61560019-C-T p.Ile437Ile synonymous ACE 7 82808 8.45329E-5 41404 0 4.77563E-5
17-61560022-C-A p.Gly438Gly synonymous ACE 5 82768 6.04098E-5 41384 0 3.18796E-5
17-61560025-G-T p.Leu439Leu synonymous ACE 8 82750 9.66767E-5 41375 0 1.91168E-4
17-61560026-C-G p.Leu440Val missense ACE 1 82738 1.20863E-5 41369 0 1.19431E-4
17-61560026-C-T p.Leu440Leu synonymous ACE 1 82738 1.20863E-5 41369 0 8.29297E-6
17-61560027-T-A p.Leu440Gln missense ACE 2 82734 2.41739E-5 41367 0 7.96166E-6
17-61560031-C-T p.Asp441Asp synonymous ACE 2 82662 2.41949E-5 41331 0 3.18695E-5
17-61560033-G-A p.Arg442His missense ACE 203 82576 0.00245834 41288 1 0.00407929
17-61560042-A-G p.Asn445Ser missense ACE 1 82444 1.21294E-5 41222 0 NA
17-61560049-G-C p.Thr447Thr splice_region+synonymous ACE 298 82152 0.00362742 41076 2 0.00704935
17-61560393-G-A p.Ser449Asn missense ACE 1 83284 1.20071E-5 41642 0 NA
17-61560399-T-C p.Ile451Thr missense ACE 1 83296 1.20054E-5 41648 0 6.37024E-5
17-61560428-A-G p.Lys461Glu missense ACE 1 83316 1.20025E-5 41658 0 NA
17-61560431-A-T p.Ile462Phe missense ACE 1 83326 1.20011E-5 41663 0 NA
17-61560434-GC-G p.Phe464fs frameshift ACE 1 83316 1.20025E-5 41658 0 8.23655E-6
17-61560465-A-G p.Gln473Arg missense ACE 1 83300 1.20048E-5 41650 0 NA
17-61560467-T-C p.Trp474Arg missense ACE 2 83298 2.40102E-5 41649 0 8.23737E-6
17-61560470-C-T p.Arg475Cys missense ACE 1 83280 1.20077E-5 41640 0 1.59055E-5
17-61560471-G-T p.Arg475Leu missense ACE 1 83286 1.20068E-5 41643 0 8.23778E-6
17-61560491-C-T p.Arg482Cys missense ACE 15 83240 1.80202E-4 41620 0 2.55037E-4
17-61560492-G-C p.Arg482Pro missense ACE 1 83240 1.20135E-5 41620 0 4.12045E-5
17-61560492-G-A p.Arg482His missense ACE 3 83244 3.60386E-5 41622 0 4.37417E-5
17-61560492-G-T p.Arg482Leu missense ACE 1 83244 1.20129E-5 41622 0 1.19296E-5
17-61560498-C-G p.Pro484Arg missense ACE 1 83248 1.20123E-5 41624 0 NA
17-61560498-C-T p.Pro484Leu missense ACE 1 83248 1.20123E-5 41624 0 NA
17-61560500-C-G p.Pro485Ala missense ACE 10 83240 1.20135E-4 41620 0 1.40141E-4
17-61560500-C-A p.Pro485Thr missense ACE 2 83240 2.40269E-5 41620 0 1.19295E-5
17-61560501-C-G p.Pro485Arg missense ACE 56 83234 6.72802E-4 41617 0 4.94641E-4
17-61560506-C-T p.Arg487Cys missense ACE 46 83222 5.52738E-4 41611 0 2.50523E-4
17-61560507-G-A p.Arg487His missense ACE 6 83208 7.21085E-5 41604 0 7.15842E-5
17-61560517-C-T p.Phe490Phe synonymous ACE 3 83138 3.60846E-5 41569 0 1.98855E-5
17-61560519-ACT-A p.Asp491fs frameshift ACE 1 83128 1.20296E-5 41564 0 3.97703E-6
17-61560522-G-A p.Trp492* stop_gained ACE 1 83108 1.20325E-5 41554 0 7.95469E-6
17-61560534-G-A p.Arg496Gln missense+splice_region ACE 1 82954 1.20549E-5 41477 0 8.26474E-6
17-61560535-G-A c.1487+1G>A splice_donor ACE 4 82918 4.82404E-5 41459 0 6.37714E-5
17-61560541-GGA-G c.1487+8_1487+9delGA splice_region ACE 5 82736 6.04332E-5 41368 0 5.5403E-4
17-61560831-CAG-C p.Gln500fs frameshift ACE 1 83142 1.20276E-5 41571 0 2.47178E-5
17-61560835-G-A p.Gly501Glu missense ACE 2 83160 2.405E-5 41580 0 8.23927E-6
17-61560836-G-C p.Gly453Ala missense ACE 1 83166 1.20241E-5 41583 0 1.31826E-4
17-61560841-GTCC-G p.Leu457del disruptive_inframe_deletion ACE 4 83172 4.80931E-5 41586 0 9.8868E-5
17-61560842-TC-T p.Pro504fs frameshift ACE 3 83176 3.60681E-5 41588 0 1.98831E-5
17-61560844-C-T p.Pro504Leu missense ACE 1 83186 1.20213E-5 41593 0 1.64785E-5
17-61560846-C-G p.Pro505Ala missense ACE 75 83180 9.01659E-4 41590 1 5.9253E-4
17-61560853-C-T p.Thr507Ile missense ACE 3 83164 3.60733E-5 41582 0 NA
17-61560855-C-T p.Arg508* stop_gained ACE 3 83172 3.60698E-5 41586 0 3.2956E-5
17-61560856-G-A p.Arg508Gln missense ACE 1 83176 1.20227E-5 41588 0 3.18552E-5
17-61560861-G-A p.Glu510Lys missense ACE 1 83158 1.20253E-5 41579 0 6.37186E-5
17-61560864-A-G p.Thr511Ala missense ACE 1 83164 1.20244E-5 41582 0 1.59075E-5
17-61560873-G-A p.Asp514Asn missense ACE 2 83120 2.40616E-5 41560 0 4.37484E-5
17-61560876-G-T p.Ala515Ser missense ACE 3 83082 3.61089E-5 41541 0 4.36724E-4
17-61560890-T-C p.Phe471Ser missense ACE 4 82878 4.82637E-5 41439 0 1.1933E-5
17-61560900-A-C p.Asn523His missense ACE 1 82606 1.21057E-5 41303 0 NA
17-61560904-T-C p.Ter476Argext*? stop_lost ACE 1 82432 1.21312E-5 41216 0 9.56328E-5
17-61560909-C-G p.Pro526Ala missense ACE 3 82218 3.64884E-5 41109 0 8.25069E-6
17-61560913-A-G p.Tyr527Cys missense ACE 4 81972 4.87972E-5 40986 0 1.595E-4
17-61560919-G-A p.Arg529Lys missense+splice_region ACE 1 81500 1.22699E-5 40750 0 NA
17-61560927-C-T c.1586+8C>T splice_region ACE 4 80206 4.98716E-5 40103 0 7.73595E-5
17-61561212-A-G p.Tyr530Cys missense+splice_region ACE 2 82970 2.41051E-5 41485 0 1.64905E-5
17-61561222-T-C p.Ser533Ser synonymous ACE 1 82994 1.20491E-5 41497 0 8.24498E-6
17-61561233-A-G p.Gln537Arg missense ACE 3 83016 3.61376E-5 41508 0 3.18471E-5
17-61561238-C-A p.Gln539Lys missense ACE 1 83012 1.20465E-5 41506 0 NA
17-61561246-T-G p.His541Gln missense ACE 1 83000 1.20482E-5 41500 0 NA
17-61561252-C-T p.Ala543Ala synonymous ACE 4 82988 4.81997E-5 41494 0 1.91046E-4
17-61561258-C-T p.Cys545Cys synonymous ACE 7 82986 8.43516E-5 41493 0 8.25464E-6
17-61561272-A-G p.Tyr550Cys missense ACE 2 82924 2.41185E-5 41462 0 1.65333E-5
17-61561278-G-A p.Gly552Asp missense ACE 6 82866 7.24061E-5 41433 0 1.59215E-4
17-61561286-C-T p.His555Tyr missense ACE 5 82814 6.03763E-5 41407 0 1.65791E-5
17-61561304-C-T p.Arg561Trp missense ACE 92 82508 0.00111504 41254 1 0.00315467
17-61561311-C-T p.Thr563Ile missense ACE 3 82374 3.64193E-5 41187 0 1.91131E-4
17-61561316-G-A p.Ala565Thr missense ACE 4 82266 4.86228E-5 41133 0 5.24567E-5
17-61561318-A-G p.Ala565Ala synonymous ACE 4 82218 4.86511E-5 41109 0 NA
17-61561331-C-T p.Arg570Trp missense+splice_region ACE 4 81666 4.898E-5 40833 0 2.54728E-4
17-61561332-G-A p.Arg570Gln missense+splice_region ACE 1 81678 1.22432E-5 40839 0 4.87691E-5
17-61561337-G-C c.1709+5G>C splice_region ACE 2 81566 2.452E-5 40783 0 NA
17-61561691-G-A p.Arg570Arg splice_region+synonymous ACE 1 80098 1.24847E-5 40049 0 4.08901E-6
17-61561694-G-C p.Lys571Asn missense ACE 1 80246 1.24617E-5 40123 0 2.10018E-5
17-61561700-G-A p.Leu573Leu synonymous ACE 1 80516 1.24199E-5 40258 0 NA
17-61561701-C-T p.Gln574* stop_gained ACE 1 80534 1.24171E-5 40267 0 NA
17-61561707-G-A p.Gly576Ser missense ACE 1 80690 1.23931E-5 40345 0 NA
17-61561712-C-T p.Ser577Ser synonymous ACE 2 80778 2.47592E-5 40389 0 NA
17-61561719-C-A p.Pro580Thr missense ACE 4 80838 4.94817E-5 40419 0 6.37796E-5
17-61561722-T-TG p.Gln582fs frameshift ACE 4 80994 4.93864E-5 40497 0 NA
17-61561725-C-A p.Gln582Lys missense ACE 2 81094 2.46627E-5 40547 0 NA
17-61561744-T-C p.Met588Thr missense ACE 2 81514 2.45357E-5 40757 0 4.03577E-6
17-61561748-C-A p.Val589Val synonymous ACE 2 81502 2.45393E-5 40751 0 3.18939E-5
17-61561748-C-T p.Val589Val synonymous ACE 1 81506 1.2269E-5 40753 0 0.00100705
17-61561749-G-A p.Gly590Ser missense ACE 7 81568 8.5818E-5 40784 0 5.03525E-4
17-61561755-G-A p.Asp592Asn missense ACE 2 81664 2.44906E-5 40832 0 4.04537E-6
17-61561756-A-G p.Asp592Gly missense ACE 552 81662 0.00675957 40831 9 0.0146956
17-61561759-C-T p.Ala593Val missense ACE 4 81726 4.8944E-5 40863 1 NA
17-61561774-C-T p.Pro598Leu missense ACE 1 81910 1.22085E-5 40955 0 2.75624E-5
17-61561775-G-A p.Pro598Pro synonymous ACE 17 81908 2.0755E-4 40954 0 6.25E-4
17-61561775-G-T p.Pro598Pro synonymous ACE 1 81908 1.22088E-5 40954 0 4.04053E-6
17-61561778-G-A p.Leu599Leu synonymous ACE 1 81918 1.22073E-5 40959 0 4.0347E-6
17-61561783-A-G p.Lys601Arg missense ACE 5 81968 6.09994E-5 40984 0 1.83264E-5
17-61561804-A-C p.Gln608Pro missense ACE 5 81890 6.10575E-5 40945 0 NA
17-61561806-T-A p.Trp609Arg missense ACE 1 81872 1.22142E-5 40936 0 4.03701E-6
17-61561816-A-C p.Glu612Ala missense ACE 11 81600 1.34804E-4 40800 0 6.37471E-5
17-61561833-G-A p.Gly618Ser missense ACE 6 81020 7.40558E-5 40510 0 9.56023E-5
17-61561836-G-A p.Glu619Lys missense ACE 1 80828 1.2372E-5 40414 0 6.37592E-5
17-61561853-C-T p.Pro624Pro synonymous ACE 217 79778 0.00272005 39889 2 0.0020284
17-61561870-C-T p.Pro630Leu missense ACE 3 81160 3.6964E-5 40580 0 6.25E-4
17-61561871-G-A p.Pro630Pro synonymous ACE 1 81162 1.2321E-5 40581 0 1.22157E-5
17-61561873-C-T p.Pro631Leu missense ACE 4 81196 4.92635E-5 40598 0 0.0010101
17-61561885-A-G p.Asn635Ser missense ACE 2 81174 2.46384E-5 40587 0 1.22046E-5
17-61561892-G-A p.Pro637Pro synonymous ACE 4 81010 4.93766E-5 40505 0 6.37389E-5
17-61561893-G-A p.Glu638Lys missense ACE 10 80982 1.23484E-4 40491 0 0.00100908
17-61561896-G-A p.Gly639Ser missense ACE 9 80980 1.11139E-4 40490 0 9.56816E-5
17-61561897-G-T p.Gly639Val missense ACE 1 80938 1.23551E-5 40469 0 3.10527E-5
17-61561906-A-G c.1921+4A>G splice_region ACE 5 80882 6.18184E-5 40441 0 3.18878E-5
17-61562197-C-T c.-32C>T 5_prime_UTR_premature_start_codon_gain ACE 11 79402 1.38536E-4 39701 0 7.91766E-5
17-61562216-C-T p.Cys3Cys synonymous ACE 3 79710 3.76364E-5 39855 0 5.37294E-6
17-61562216-C-G p.Cys3Trp missense ACE 1 79710 1.25455E-5 39855 0 NA
17-61562217-T-C p.Ser4Pro missense ACE 1 79720 1.25439E-5 39860 0 NA
17-61562218-C-T p.Ser4Phe missense ACE 1 79730 1.25423E-5 39865 0 NA
17-61562220-C-T p.Pro5Ser missense ACE 1 79776 1.25351E-5 39888 0 NA
17-61562224-C-T p.Ala6Val missense ACE 1 79754 1.25386E-5 39877 0 4.10071E-5
17-61562225-G-A p.Ala6Ala synonymous ACE 1 79792 1.25326E-5 39896 0 3.18695E-5
17-61562228-C-T p.Ala7Ala synonymous ACE 2 79890 2.50344E-5 39945 0 5.00681E-6
17-61562229-A-G p.Met1? start_lost ACE 4 79922 5.00488E-5 39961 0 0.0025
17-61562238-G-A p.Gly4Ser missense ACE 2 80046 2.49856E-5 40023 0 4.84473E-6
17-61562247-A-C p.Thr7Pro missense ACE 2 80200 2.49377E-5 40100 0 NA
17-61562258-T-TC p.Ser12fs frameshift ACE 4 80386 4.97599E-5 40193 0 3.18857E-5
17-61562259-C-T p.Pro11Ser missense ACE 2 80442 2.48626E-5 40221 0 5.14403E-4
17-61562274-C-T c.-206C>T 5_prime_UTR_premature_start_codon_gain ACE 2 80784 2.47574E-5 40392 0 NA
17-61562288-C-T c.-192C>T 5_prime_UTR_premature_start_codon_gain ACE 4 80978 4.93961E-5 40489 0 6.31818E-5
17-61562288-C-A p.Tyr20* stop_gained ACE 1 80978 1.2349E-5 40489 0 NA
17-61562309-C-T p.Pro27Pro synonymous ACE 35631 80758 0.441207 40379 8116 0.543531
17-61562322-T-C p.Ser32Pro missense ACE 1934 81562 0.023712 40781 111 0.0495438
17-61562324-C-G c.203-7C>G splice_region ACE 3 81680 3.67287E-5 40840 0 NA
17-61562328-C-G p.Gln41Glu missense+splice_region ACE 1 81676 1.22435E-5 40838 0 0.00125
17-61562331-G-A c.-150+1G>A splice_donor ACE 1 81668 1.22447E-5 40834 0 NA
17-61562351-AAGCAGCCAGGCAACAACC-A p.Gly78_Pro83del disruptive_inframe_deletion ACE 1 81824 1.22214E-5 40912 0 2.2518E-5
17-61562370-A-G p.Ser48Gly missense ACE 1 81916 1.22076E-5 40958 0 6.37389E-5
17-61562371-G-A p.Ser48Asn missense ACE 1 81928 1.22058E-5 40964 0 6.25E-4
17-61562373-A-G p.Ser49Gly missense ACE 1937 81842 0.0236676 40921 109 0.0496495
17-61562373-A-T p.Ser49Cys missense ACE 1 81948 1.22029E-5 40974 0 NA
17-61562376-C-T p.Gln50* stop_gained ACE 1 81940 1.22041E-5 40970 0 8.20338E-6
17-61562386-C-T p.Thr53Ile missense ACE 1 81878 1.22133E-5 40939 0 NA
17-61562388-C-T p.His54Tyr missense ACE 1 81870 1.22145E-5 40935 0 3.18776E-5
17-61562395-C-T p.Ala56Val missense ACE 3 81726 3.6708E-5 40863 0 1.24021E-5
17-61562396-G-A p.Asp90Asn missense ACE 2 81744 2.44666E-5 40872 0 3.34582E-5
17-61562398-C-T p.Thr57Met missense ACE 1 81726 1.2236E-5 40863 0 6.7245E-5
17-61562400-G-A p.Ala58Thr missense ACE 1 81702 1.22396E-5 40851 0 NA
17-61562410-C-T p.Thr61Ile missense ACE 6 81706 7.3434E-5 40853 0 NA
17-61562415-G-A p.Ala63Thr missense ACE 1 81642 1.22486E-5 40821 0 6.94557E-5
17-61562416-C-T p.Ala63Val missense ACE 1 81632 1.22501E-5 40816 0 NA
17-61562422-G-T p.Ser65Ile missense ACE 1 81548 1.22627E-5 40774 0 NA
17-61562434-C-A p.Asp102Glu missense ACE 1 81372 1.22892E-5 40686 0 1.20834E-5
17-61562439-C-G p.Ala104Gly missense ACE 5 81258 6.15324E-5 40629 0 3.83068E-4
17-61562452-G-A p.Gln108Gln synonymous ACE 1 81040 1.23396E-5 40520 0 4.61327E-6
17-61562462-G-T p.Gly112Cys missense ACE 1 80984 1.23481E-5 40492 0 NA
17-61562469-G-A p.Arg114Lys missense ACE 1 80730 1.2387E-5 40365 0 3.90351E-5
17-61562473-C-T p.Gly115Gly synonymous ACE 2 80268 2.49165E-5 40134 0 4.93145E-5
17-61562474-G-A p.Gly116Arg missense ACE 1 80614 1.24048E-5 40307 0 1.47798E-4
17-61562477-G-A p.Ala117Thr missense ACE 2 80120 2.49626E-5 40060 0 5.92242E-6
17-61562479-C-T p.Ala117Ala synonymous ACE 4 79228 5.04872E-5 39614 0 1.4758E-4
17-61562480-G-C p.Gly118Arg missense ACE 3 79292 3.78348E-5 39646 0 3.03601E-4
17-61562482-G-C p.Gly118Gly synonymous ACE 1 79596 1.25634E-5 39798 0 2.49232E-4
17-61562594-C-T c.200-3C>T splice_region ACE 9 82892 1.08575E-4 41446 0 2.23058E-4
17-61562597-A-T p.Asn67Ile missense+splice_region ACE 2 82942 2.41132E-5 41471 0 8.29986E-6
17-61562603-T-C p.Ter44Argext*? stop_lost ACE 2 83032 2.40871E-5 41516 0 3.982E-6
17-61562607-T-C p.Thr70Thr synonymous ACE 2 83086 2.40714E-5 41543 0 1.65791E-5
17-61562608-G-A p.Asp71Asn missense ACE 1 83112 1.2032E-5 41556 0 8.28734E-6
17-61562611-G-C p.Glu72Gln missense ACE 1 83134 1.20288E-5 41567 0 NA
17-61562630-T-C p.Phe78Ser missense ACE 1 83238 1.20137E-5 41619 0 NA
17-61562640-A-C p.Glu81Asp missense ACE 2 83274 2.40171E-5 41637 0 3.97836E-6
17-61562647-C-T p.Arg84Trp missense ACE 1 83288 1.20065E-5 41644 0 3.18979E-5
17-61562652-A-G p.Thr85Thr synonymous ACE 3 83286 3.60205E-5 41643 0 3.97839E-6
17-61562654-C-G p.Ser86Cys missense ACE 103 83288 0.00123667 41644 0 9.589E-4
17-61562658-G-C p.Gln87His missense ACE 1 83310 1.20034E-5 41655 0 NA
17-61562671-G-A p.Glu92Lys missense ACE 1 83308 1.20036E-5 41654 0 9.58344E-4
17-61562679-C-T c.-67C>T 5_prime_UTR_premature_start_codon_gain ACE 2 83294 2.40113E-5 41647 0 6.38937E-5
17-61562680-G-A p.Glu95Lys missense ACE 4 83288 4.80261E-5 41644 0 2.8743E-4
17-61562687-A-G p.Asn97Ser missense ACE 6 83308 7.20219E-5 41654 0 1.65366E-5
17-61562687-A-C p.Asn97Thr missense ACE 1 83308 1.20036E-5 41654 0 8.26829E-6
17-61562688-C-G p.Asn97Lys missense ACE 1 83310 1.20034E-5 41655 0 NA
17-61562700-C-T p.Asn101Asn synonymous ACE 1 83284 1.20071E-5 41642 0 1.19376E-5
17-61562707-A-G p.Ile104Val missense ACE 7 83282 8.40518E-5 41641 0 1.27689E-4
17-61562724-C-A p.Ser109Arg missense ACE 15 83236 1.8021E-4 41618 0 9.57121E-5
17-61562727-G-C p.Lys110Asn missense ACE 1 83262 1.20103E-5 41631 0 NA
17-61563648-C-T c.337-5C>T splice_region ACE 1 22222 4.50005E-5 11111 0 5.46587E-5
17-61563661-C-A p.Tyr115* stop_gained ACE 6324 18274 0.346065 9137 131 0.614094
17-61563661-C-G p.Tyr115* stop_gained ACE 34 26712 0.00127284 13356 0 0.0100671
17-61563661-C-T p.Tyr115Tyr synonymous ACE 2 26788 7.46603E-5 13394 0 5.38059E-5
17-61563666-C-CT p.Trp118fs frameshift ACE 2 28718 6.96427E-5 14359 0 6.3678E-5
17-61563685-C-G p.Leu123Leu synonymous ACE 1 35760 2.79642E-5 17880 0 NA
17-61563715-C-T c.*249-5C>T splice_region ACE 409 46614 0.00877419 23307 0 0.0205882
17-61563715-C-G c.*249-5C>G splice_region ACE 1 46646 2.14381E-5 23323 0 1.26736E-5
17-61563716-G-T p.Ala134Ser missense ACE 2 46962 4.25876E-5 23481 0 1.25868E-5
17-61563716-G-A p.Ala134Thr missense ACE 1 46962 2.12938E-5 23481 0 NA
17-61563723-T-C p.Ile136Thr missense ACE 1 51424 1.94462E-5 25712 0 NA
17-61563734-T-A c.*261+2T>A splice_donor ACE 9 56168 1.60234E-4 28084 0 7.35294E-4
17-61563920-G-T p.Cys140Phe missense+splice_region ACE 3 83204 3.6056E-5 41602 0 8.45881E-6
17-61563933-C-T p.Gln118* stop_gained ACE 1 83266 1.20097E-5 41633 0 3.98067E-6
17-61563933-C-A p.Cys144* stop_gained ACE 2 83266 2.40194E-5 41633 0 NA
17-61563935-A-G p.Lys145Arg missense ACE 1 83272 1.20088E-5 41636 0 6.37308E-5
17-61563941-C-G p.Ala120Ala synonymous ACE 14 83292 1.68083E-4 41646 0 0.00100705
17-61563941-C-T p.Ala120Ala synonymous ACE 2 83292 2.40119E-5 41646 0 NA
17-61563949-C-A p.Thr123Asn missense ACE 9 83314 1.08025E-4 41657 0 4.97793E-5
17-61563951-C-T p.Leu124Leu synonymous ACE 2 83320 2.40038E-5 41660 0 3.9789E-6
17-61563956-G-A p.Lys125Lys synonymous ACE 1 83320 1.20019E-5 41660 0 8.28336E-6
17-61564006-CTA-C p.Ile143fs frameshift ACE 3 83312 3.60092E-5 41656 0 7.95507E-6
17-61564008-A-G p.Ile143Val missense ACE 1 83310 1.20034E-5 41655 0 NA
17-61564014-C-T p.Arg145Trp missense ACE 39 83308 4.68142E-4 41654 0 0.001875
17-61564015-G-A p.Arg145Gln missense ACE 4 83312 4.80123E-5 41656 0 5.03525E-4
17-61564019-C-A p.Ile146Ile synonymous ACE 1 83298 1.20051E-5 41649 0 3.97769E-6
17-61564032-C-T p.Gln151* stop_gained ACE 1 83292 1.2006E-5 41646 0 NA
17-61564044-C-T p.Arg155Trp missense ACE 1 83248 1.20123E-5 41624 0 6.36699E-5
17-61564045-G-A p.Arg155Gln missense ACE 6 83242 7.2079E-5 41621 0 3.30104E-5
17-61564046-G-T p.Arg155Arg synonymous ACE 227 83236 0.00272719 41618 2 0.0055407
17-61564048-C-A p.Ala156Glu missense ACE 2 83236 2.40281E-5 41618 0 8.35462E-5
17-61564049-A-G p.Ala156Ala synonymous ACE 2 83236 2.40281E-5 41618 0 NA
17-61564051-C-T p.Ala157Val missense ACE 4 83212 4.807E-5 41606 0 3.1837E-5
17-61564051-CA-TG p.Ala157Val missense ACE 2 83212 2.4035E-5 41606 0 NA
17-61564052-A-G p.Ala157Ala synonymous ACE 36109 81920 0.440784 40960 8055 0.501079
17-61564059-G-T p.Ala160Ser missense ACE 3 83168 3.60716E-5 41584 0 1.65169E-5
17-61564065-G-T p.Glu162* stop_gained ACE 1 83144 1.20273E-5 41572 0 NA
17-61564073-G-GGAGGT p.Gln161fs frameshift ACE 1 83040 1.20424E-5 41520 0 NA
17-61564340-C-T c.496-7C>T splice_region ACE 1 82830 1.20729E-5 41415 0 NA
17-61564385-C-T p.Ser178Ser synonymous ACE 3 82616 3.63126E-5 41308 0 4.96524E-5
17-61564386-G-A p.Val179Met missense ACE 1 82614 1.21045E-5 41307 0 1.59357E-4
17-61564395-G-A p.Val182Met missense ACE 2 82470 2.42512E-5 41235 0 NA
17-61564396-T-C p.Val182Ala missense ACE 1 82452 1.21283E-5 41226 0 1.65651E-5
17-61564404-C-T p.Pro185Ser missense ACE 1 82204 1.21649E-5 41102 0 NA
17-61564405-C-A p.Pro185Gln missense ACE 1 82136 1.21749E-5 41068 0 3.98858E-6
17-61564406-G-A p.Pro185Pro synonymous ACE 3 82112 3.65355E-5 41056 0 8.30965E-6
17-61564417-G-A p.Cys189Tyr missense ACE 5 81474 6.13693E-5 40737 0 4.16126E-5
17-61564420-T-A p.Leu190Gln missense ACE 5 81354 6.14598E-5 40677 0 2.83102E-4
17-61564421-G-T p.Leu190Leu synonymous ACE 1 81272 1.23044E-5 40636 0 NA
17-61564422-C-A p.Gln191Lys missense ACE 1 81202 1.2315E-5 40601 0 NA
17-61564427-C-T p.Leu192Leu synonymous ACE 1 80642 1.24005E-5 40321 0 6.37308E-5
17-61564428-G-A p.Glu193Lys missense ACE 24 80576 2.97855E-4 40288 0 0.004375
17-61564435-G-T c.583+1G>T splice_donor ACE 1 79984 1.25025E-5 39992 0 3.18532E-5
17-61564441-G-T c.583+7G>T splice_region ACE 1 79168 1.26314E-5 39584 0 NA
17-61565924-A-T c.*376-7A>T splice_region ACE 6 82466 7.27573E-5 41233 0 0.00346268
17-61565938-A-G p.Lys197Lys synonymous ACE 1 82882 1.20653E-5 41441 0 4.11963E-5
17-61565943-C-G p.Ser199Cys missense ACE 1 82932 1.20581E-5 41466 0 8.04389E-6
17-61565947-G-A p.Glu200Glu synonymous ACE 1 82960 1.2054E-5 41480 0 NA
17-61565948-C-T p.Leu201Phe missense ACE 2 82960 2.4108E-5 41480 0 1.67386E-5
17-61565950-C-T p.Leu201Leu synonymous ACE 3 83000 3.61446E-5 41500 0 1.08687E-4
17-61565956-ACAAG-A p.Ala205fs frameshift ACE 2 83018 2.40912E-5 41509 0 1.66747E-5
17-61566001-C-T c.584-8C>T splice_region ACE 2 83260 2.40211E-5 41630 0 3.97839E-6
17-61566004-A-G c.584-5A>G splice_region ACE 1 83262 1.20103E-5 41631 0 3.58004E-5
17-61566011-C-G p.Leu196Val missense+splice_region ACE 1 83296 1.20054E-5 41648 0 3.29533E-5
17-61566015-C-T p.Thr197Met missense ACE 3 83288 3.60196E-5 41644 0 5.03525E-4
17-61566016-G-A p.Thr197Thr synonymous ACE 1 83294 1.20057E-5 41647 0 8.23859E-5
17-61566020-G-A p.Val199Met missense ACE 10 83298 1.20051E-4 41649 0 1.59551E-4
17-61566023-A-G p.Met200Val missense ACE 1 83304 1.20042E-5 41652 0 3.18157E-5
17-61566029-ACG-GCA p.Thr202Ala missense ACE 1 83310 1.20034E-5 41655 0 NA
17-61566029-A-G p.Thr202Ala missense ACE 1 83310 1.20034E-5 41655 0 3.29506E-5
17-61566031-G-A p.Thr202Thr synonymous ACE 38625 79430 0.486277 39715 9692 0.564009
17-61566035-C-T p.Arg204Trp missense ACE 4 83338 4.79973E-5 41669 0 1.63056E-4
17-61566044-GAAGA-G p.Glu207fs frameshift ACE 1 83334 1.19999E-5 41667 0 NA
17-61566049-C-A p.Asp208Glu missense ACE 2 83344 2.39969E-5 41672 0 1.19298E-5
17-61566050-C-CA p.Leu209fs frameshift ACE 1 83330 1.20005E-5 41665 0 NA
17-61566074-C-T p.Arg217* stop_gained ACE 1 83334 1.19999E-5 41667 0 2.47129E-5
17-61566084-C-T p.Ala220Val missense ACE 1 83338 1.19993E-5 41669 0 2.78363E-5
17-61566085-G-A p.Ala220Ala synonymous ACE 242 83328 0.00290419 41664 4 0.0057761
17-61566092-G-A p.Ala223Thr missense ACE 1 83324 1.20013E-5 41662 0 3.97655E-6
17-61566095-A-G p.Ile224Val missense ACE 160 83324 0.00192022 41662 0 0.0033814
17-61566098-C-T p.Leu225Phe missense ACE 1 83330 1.20005E-5 41665 0 NA
17-61566111-C-T p.Pro229Leu missense ACE 11 83332 1.32002E-4 41666 0 9.56511E-5
17-61566112-G-A p.Pro229Pro synonymous ACE 14 83330 1.68007E-4 41665 1 0.0025
17-61566119-G-A p.Val232Met missense ACE 3 83328 3.60023E-5 41664 0 1.64769E-5
17-61566144-G-A p.Arg240Gln missense ACE 3 83298 3.60153E-5 41649 0 1.07385E-4
17-61566145-G-A p.Arg240Arg synonymous ACE 1 83300 1.20048E-5 41650 0 8.2394E-6
17-61566148-C-T p.Leu241Leu synonymous ACE 2 83302 2.4009E-5 41651 0 8.23968E-6
17-61566302-G-A p.Gly243Asp missense+splice_region ACE 1 83252 1.20117E-5 41626 0 NA
17-61566305-A-T p.Tyr244Phe missense ACE 3 83244 3.60386E-5 41622 0 1.98874E-5
17-61566305-A-G p.Tyr244Cys missense ACE 1 83244 1.20129E-5 41622 0 2.38648E-5
17-61566310-G-A p.Asp246Asn missense ACE 2 83248 2.40246E-5 41624 0 3.18552E-5
17-61566312-T-C p.Asp246Asp synonymous ACE 8 83254 9.60915E-5 41627 0 9.56023E-5
17-61566317-G-A p.Gly248Glu missense ACE 1 83260 1.20106E-5 41630 0 NA
17-61566323-C-T p.Ser250Leu missense ACE 1 83236 1.2014E-5 41618 0 8.24674E-6
17-61566324-G-A p.Ser250Ser synonymous ACE 1 83242 1.20132E-5 41621 0 1.23711E-4
17-61566333-T-A p.Ser253Ser synonymous ACE 2 83238 2.40275E-5 41619 0 8.24715E-6
17-61566335-T-C p.Met254Thr missense ACE 8 83228 9.61215E-5 41614 0 1.40206E-4
17-61566339-C-T p.Tyr255Tyr synonymous ACE 5 83216 6.00846E-5 41608 0 9.56206E-5
17-61566340-G-A p.Glu256Lys missense ACE 1 83212 1.20175E-5 41606 0 8.24946E-6
17-61566355-G-A p.Glu261Lys missense ACE 1 83216 1.20169E-5 41608 0 NA
17-61566358-C-T p.Gln262* stop_gained ACE 1 83196 1.20198E-5 41598 0 1.19359E-5
17-61566366-G-T p.Leu264Leu synonymous ACE 1 83178 1.20224E-5 41589 0 NA
17-61566370-C-A p.Arg266Arg synonymous ACE 105 83120 0.00126323 41560 0 0.0028353
17-61566378-C-G p.Phe268Leu missense ACE 1 83090 1.20351E-5 41545 0 NA
17-61566384-G-A p.Glu270Glu synonymous ACE 2 83034 2.40865E-5 41517 0 3.98829E-6
17-61566390-G-A p.Gln272Gln synonymous ACE 1 83148 1.20267E-5 41574 0 3.97985E-6
17-61566390-G-C p.Gln272His missense ACE 1 83148 1.20267E-5 41574 0 3.18451E-5
17-61566394-C-G p.Leu274Val missense ACE 2 83174 2.4046E-5 41587 0 NA
17-61566396-C-G p.Leu274Leu synonymous ACE 1 83160 1.2025E-5 41580 0 3.97962E-6
17-61566402-C-G p.Leu276Leu synonymous ACE 197 83172 0.00236859 41586 2 0.00576653
17-61566411-T-C p.His279His synonymous ACE 1 83168 1.20239E-5 41584 0 1.9901E-5
17-61566415-T-A p.Tyr281Asn missense ACE 2 83152 2.40523E-5 41576 0 NA
17-61566417-C-T p.Tyr281Tyr synonymous ACE 3 83112 3.60959E-5 41556 0 8.27417E-6
17-61566418-G-A p.Val282Met missense ACE 10 83100 1.20337E-4 41550 0 4.1375E-5
17-61566422-G-A p.Arg283His missense ACE 3 83056 3.61202E-5 41528 0 3.1869E-5
17-61566424-C-T p.Arg284Trp missense ACE 2 83016 2.40917E-5 41508 0 3.18573E-5
17-61566425-G-A p.Arg284Gln missense ACE 9 83008 1.08423E-4 41504 0 1.32479E-4
17-61566428-C-A p.Ala285Asp missense ACE 1 83014 1.20462E-5 41507 0 NA
17-61566433-C-T p.His287Tyr missense ACE 12 82990 1.44596E-4 41495 0 9.55292E-5
17-61566434-A-G p.His287Arg missense ACE 1 82968 1.20528E-5 41484 0 NA
17-61566435-C-T p.His287His synonymous ACE 1 82978 1.20514E-5 41489 0 2.4874E-5
17-61566437-G-A p.Arg288His missense ACE 5 82958 6.02715E-5 41479 1 3.58952E-5
17-61566444-C-T p.Tyr290Tyr synonymous ACE 31 82910 3.73899E-4 41455 0 0.0015121
17-61566445-G-A p.Gly291Arg missense ACE 1 82866 1.20677E-5 41433 0 1.9969E-5
17-61566486-C-G p.His304Gln missense ACE 1 81534 1.22648E-5 40767 0 1.21685E-5
17-61566499-G-C c.919+6G>C splice_region ACE 1 80522 1.2419E-5 40261 0 8.6952E-6
17-61568307-G-A c.920-8G>A splice_region ACE 2 82816 2.41499E-5 41408 0 2.47357E-5
17-61568308-C-T c.920-7C>T splice_region ACE 3 82852 3.62091E-5 41426 0 1.64891E-5
17-61568316-G-C p.Gly307Gly splice_region+synonymous ACE 1 82970 1.20525E-5 41485 0 3.18492E-5
17-61568316-G-A p.Gly307Gly splice_region+synonymous ACE 2 82970 2.41051E-5 41485 0 NA
17-61568323-T-C p.Trp310Arg missense ACE 11 83012 1.32511E-4 41506 1 3.57924E-5
17-61568327-C-T p.Ala311Val missense ACE 2 83018 2.40912E-5 41509 0 3.18471E-5
17-61568328-G-A p.Ala311Ala synonymous ACE 4 83032 4.81742E-5 41516 0 1.5908E-5
17-61568367-C-T p.Phe324Phe synonymous ACE 4 83146 4.81081E-5 41573 0 9.55657E-5
17-61568381-C-T p.Ser329Leu missense ACE 3 83120 3.60924E-5 41560 0 7.41705E-5
17-61568382-G-A p.Ser329Ser synonymous ACE 6 83114 7.219E-5 41557 0 1.78961E-4
17-61568384-T-C p.Met330Thr missense ACE 2 83132 2.40581E-5 41566 0 8.24117E-6
17-61568386-G-A p.Asp331Asn missense ACE 2 83116 2.40628E-5 41558 0 NA
17-61568387-A-G p.Asp331Gly missense ACE 1 83120 1.20308E-5 41560 0 8.24158E-6
17-61568388-C-T p.Asp331Asp synonymous ACE 1 83114 1.20317E-5 41557 0 3.977E-6
17-61568389-A-G p.Thr332Ala missense ACE 1 83110 1.20322E-5 41555 0 3.97693E-6
17-61568391-C-T p.Thr332Thr synonymous ACE 1 83112 1.2032E-5 41556 0 6.37186E-5
17-61568410-C-G p.Gln339Glu missense+splice_region ACE 2 83040 2.40848E-5 41520 0 8.24647E-6
17-61568411-A-G p.Gln339Arg missense+splice_region ACE 1 83038 1.20427E-5 41519 0 2.38694E-5
17-61568416-C-T c.1017+4C>T splice_region ACE 6 82984 7.23031E-5 41492 0 3.18317E-5
17-61568417-G-A c.1017+5G>A splice_region ACE 1 82970 1.20525E-5 41485 0 3.97972E-6
17-61568417-G-C c.1017+5G>C splice_region ACE 1 82970 1.20525E-5 41485 0 1.19392E-5
17-61568566-G-A c.1018-4G>A splice_region ACE 1 83142 1.20276E-5 41571 0 7.96045E-6
17-61568577-C-T p.Thr342Met missense ACE 350 83186 0.00420744 41593 1 0.00439771
17-61568584-G-A p.Arg344Arg synonymous ACE 42 83236 5.04589E-4 41618 0 2.26759E-4
17-61568589-T-C p.Met346Thr missense ACE 1 83246 1.20126E-5 41623 0 8.24593E-6
17-61568617-C-T p.Thr355Thr synonymous ACE 344 83272 0.00413104 41636 2 0.00806349
17-61568621-C-T p.Leu357Leu synonymous ACE 121 83276 0.001453 41638 2 0.01
17-61568622-T-C p.Leu357Pro missense ACE 1 83280 1.20077E-5 41640 0 3.97725E-6
17-61568624-G-C p.Gly358Arg missense ACE 4 83280 4.80307E-5 41640 0 3.18634E-5
17-61568633-C-T p.Pro361Ser missense ACE 2 83264 2.402E-5 41632 0 1.64883E-5
17-61568636-G-A p.Val362Met missense ACE 1 83252 1.20117E-5 41626 0 6.37349E-5
17-61568652-G-A p.Trp367* stop_gained ACE 1 83264 1.201E-5 41632 0 NA
17-61568654-A-C p.Asn368His missense ACE 2 83254 2.40229E-5 41627 0 3.18593E-5
17-61568654-A-G p.Asn368Asp missense ACE 1 83254 1.20114E-5 41627 0 NA
17-61568661-C-T p.Ser370Leu missense ACE 1 83254 1.20114E-5 41627 0 NA
17-61568662-G-A p.Ser370Ser synonymous ACE 3 83234 3.6043E-5 41617 0 0.00151057
17-61568663-A-ACCCAGTTTGGGCAGAACTCCCTCTGCT p.Met371delinsThrGlnPheGlyGlnAsnSerLeuCysLeu disruptive_inframe_insertion ACE 1 83236 1.2014E-5 41618 0 NA
17-61568666-C-G p.Leu372Val missense ACE 1 83212 1.20175E-5 41606 0 3.97823E-6
17-61568669-G-A p.Glu373Lys missense ACE 4 83196 4.80792E-5 41598 0 2.47382E-5
17-61568681-G-A p.Asp377Asn missense ACE 4 83122 4.8122E-5 41561 0 3.18634E-5
17-61568683-C-T p.Asp377Asp synonymous ACE 4 83088 4.81417E-5 41544 0 5.03525E-4
17-61568687-C-T p.Arg379Trp missense ACE 2 83004 2.40952E-5 41502 0 3.18674E-5
17-61568688-G-A p.Arg379Gln missense ACE 23 83014 2.77062E-4 41507 0 0.00352467
17-61568689-G-A p.Arg379Arg synonymous ACE 1 83006 1.20473E-5 41503 0 NA
17-61568695-G-A p.Val381Val synonymous ACE 1 82836 1.2072E-5 41418 0 4.12575E-5
17-61568699-T-C p.Cys383Arg missense ACE 2 82818 2.41493E-5 41409 0 8.25123E-6
17-61568701-C-T p.Cys383Cys synonymous ACE 1 82752 1.20843E-5 41376 0 NA
17-61568704-C-T p.His384His synonymous ACE 1 82710 1.20904E-5 41355 0 9.56084E-5
17-61568705-G-A p.Ala385Thr missense ACE 12 82626 1.45233E-4 41313 0 6.25E-4
17-61568706-C-A p.Ala385Asp missense ACE 1 82610 1.21051E-5 41305 0 8.25178E-6
17-61568709-C-T p.Ser386Leu missense ACE 3 82558 3.63381E-5 41279 0 1.59243E-5
17-61568710-G-A p.Ser386Ser synonymous ACE 3 82542 3.63451E-5 41271 0 7.42709E-5
17-61568711-G-C p.Ala387Pro missense ACE 3 82504 3.63619E-5 41252 0 3.18552E-5
17-61568728-C-T p.Asn222Asn splice_region+synonymous ACE 3 82098 3.65417E-5 41049 0 5.78035E-5
17-61568729-G-A p.Glu223Lys missense+splice_region ACE 1 82022 1.21919E-5 41011 0 3.18674E-5
17-61568731-C-A c.667+2C>A splice_donor ACE 1 82002 1.21948E-5 41001 0 8.25968E-6
17-61568739-T-G p.Phe396Cys missense ACE 2 81704 2.44786E-5 40852 0 NA
17-61568742-G-T p.Arg397Leu missense+splice_region ACE 2 81548 2.45254E-5 40774 0 3.18735E-5
17-61568742-G-A p.Arg397Gln missense+splice_region ACE 2 81548 2.45254E-5 40774 0 1.23985E-4
17-61568743-G-A c.1190+1G>A splice_donor ACE 1 81542 1.22636E-5 40771 0 3.9946E-6
17-61570789-A-G c.1191-8A>G splice_region ACE 2 81492 2.45423E-5 40746 0 6.39304E-5
17-61570815-C-T p.Thr403Thr synonymous ACE 5 82372 6.07002E-5 41186 0 3.30819E-5
17-61570816-G-A p.Val404Met missense ACE 22 82384 2.67042E-4 41192 0 3.82409E-4
17-61570827-G-C p.Glu407Asp missense ACE 5 82554 6.05664E-5 41277 0 5.03525E-4
17-61570836-G-A p.Val410Val synonymous ACE 285 82614 0.00344978 41307 1 0.00832111
17-61570836-G-C p.Val410Val synonymous ACE 30 82636 3.63038E-4 41318 0 2.39614E-4
17-61570841-C-T p.Ala412Val missense ACE 1 82672 1.2096E-5 41336 0 NA
17-61570843-C-T p.His413Tyr missense ACE 4 82736 4.83465E-5 41368 0 1.19395E-5
17-61570845-C-T p.His413His synonymous ACE 1 82732 1.20872E-5 41366 0 3.18857E-5
17-61570849-G-A p.Glu415Lys missense ACE 2 82778 2.4161E-5 41389 0 5.03525E-4
17-61570863-C-T p.Ile419Ile synonymous ACE 138 82894 0.00166478 41447 2 0.00427132
17-61570891-C-A p.Pro429Thr missense ACE 1 82952 1.20552E-5 41476 0 NA
17-61570910-G-T p.Gly435Val missense ACE 1 82950 1.20555E-5 41475 0 8.24565E-6
17-61570920-C-T p.Pro438Pro synonymous ACE 3 82932 3.61742E-5 41466 0 3.18552E-5
17-61570921-G-A p.Gly439Ser missense ACE 5 82920 6.02991E-5 41460 0 5.77243E-5
17-61570928-A-G p.His441Arg missense ACE 2 82924 2.41185E-5 41462 0 3.18492E-5
17-61570929-T-A p.His441Gln missense ACE 19 82924 2.29125E-4 41462 0 9.87073E-4
17-61570937-T-C p.Ile444Thr missense ACE 38 82854 4.58638E-4 41427 0 0.00151057
17-61570944-C-T p.Asp446Asp synonymous ACE 6 82776 7.24848E-5 41388 0 2.06288E-4
17-61570945-G-A p.Val447Met missense ACE 5 82758 6.04171E-5 41379 0 6.25E-4
17-61570947-G-A p.Val447Val synonymous ACE 1 82754 1.2084E-5 41377 0 NA
17-61570960-G-A p.Val452Met missense ACE 1 82552 1.21136E-5 41276 0 3.1839E-5
17-61570974-G-T p.Lys456Asn missense ACE 5 82090 6.09088E-5 41045 0 1.19613E-5
17-61570992-C-A p.Asn462Lys missense ACE 156 81578 0.00191228 40789 2 0.00956697
17-61570996-C-T p.Leu464Leu synonymous ACE 3 81434 3.68397E-5 40717 0 9.55292E-5
17-61571016-C-T n.1078C>T splice_region ACE 109 80420 0.00135538 40210 1 0.00110313
17-61571017-G-A p.Asp471Asn missense ACE 7 80482 8.6976E-5 40241 0 8.59505E-5
17-61571017-G-C p.Asp471His missense ACE 5 80480 6.21272E-5 40240 0 5.03525E-4
17-61571019-C-T p.Asp471Asp splice_region+synonymous ACE 5 80222 6.2327E-5 40111 0 4.30004E-5
17-61571019-C-A p.Asp471Glu missense+splice_region ACE 2 80226 2.49296E-5 40113 0 8.03123E-6
17-61571020-G-T p.Glu472* stop_gained ACE 1 80216 1.24663E-5 40108 0 NA
17-61571020-G-A p.Glu472Lys missense+splice_region ACE 3 80216 3.7399E-5 40108 0 3.18512E-5
17-61571276-C-T c.1415-7C>T splice_region ACE 1 83232 1.20146E-5 41616 0 8.24049E-6
17-61571289-A-G p.Asp474Gly missense ACE 3 83274 3.60256E-5 41637 0 3.18776E-5
17-61571295-A-C p.Asn476Thr missense ACE 1 83290 1.20062E-5 41645 0 NA
17-61571308-G-A p.Lys480Lys synonymous ACE 1 83316 1.20025E-5 41658 0 3.97627E-6
17-61571309-A-C p.Met481Leu missense ACE 1 83312 1.20031E-5 41656 0 9.55962E-5
17-61571314-C-T p.Ala482Ala synonymous ACE 1 83314 1.20028E-5 41657 0 3.97633E-6
17-61571320-C-A p.Asp484Glu missense ACE 1 83316 1.20025E-5 41658 0 NA
17-61571323-G-A p.Lys485Lys synonymous ACE 2 83322 2.40033E-5 41661 0 NA
17-61571324-A-G p.Ile486Val missense ACE 1 83320 1.20019E-5 41660 0 1.59051E-5
17-61571326-C-T p.Ile486Ile synonymous ACE 7 83330 8.40034E-5 41665 0 5.03525E-4
17-61571326-C-A p.Ile486Ile synonymous ACE 1 83330 1.20005E-5 41665 0 NA
17-61571327-G-A p.Ala487Thr missense ACE 4 83328 4.80031E-5 41664 0 6.59E-5
17-61571334-T-A p.Ile489Asn missense ACE 1 83334 1.19999E-5 41667 0 NA
17-61571335-C-T p.Ile489Ile synonymous ACE 2 83334 2.39998E-5 41667 0 1.64753E-5
17-61571347-C-T p.Tyr493Tyr synonymous ACE 1 83326 1.20011E-5 41663 0 NA
17-61571353-C-T p.Val495Val synonymous ACE 2 83312 2.40061E-5 41656 0 3.29527E-5
17-61571363-C-T p.Arg499Cys missense ACE 1 83308 1.20036E-5 41654 0 1.64766E-5
17-61571371-G-A p.Arg501Arg synonymous ACE 1 83304 1.20042E-5 41652 0 NA
17-61571372-G-T p.Val502Leu missense ACE 2 83308 2.40073E-5 41654 0 1.70985E-4
17-61571379-A-G p.Asp504Gly missense ACE 1 83302 1.20045E-5 41651 0 4.1197E-5
17-61571383-A-T p.Gly505Gly synonymous ACE 2 83296 2.40108E-5 41648 0 NA
17-61571385-G-C p.Ser506Thr missense ACE 1 83296 1.20054E-5 41648 0 NA
17-61571396-G-C p.Glu510Gln missense ACE 1 83268 1.20094E-5 41634 0 NA
17-61571403-A-G p.Tyr512Cys missense ACE 3 83272 3.60265E-5 41636 0 NA
17-61571426-A-G p.Arg520Gly missense+splice_region ACE 5 83184 6.01077E-5 41592 0 1.19386E-5
17-61571727-C-T c.1560-6C>T splice_region ACE 2 82972 2.41045E-5 41486 0 3.59175E-5
17-61571728-G-A c.1560-5G>A splice_region ACE 1 82984 1.20505E-5 41492 0 1.04154E-4
17-61571753-G-GC p.Val530fs frameshift ACE 1 83142 1.20276E-5 41571 0 7.96216E-6
17-61571755-C-A p.Pro528Thr missense ACE 108 83136 0.00129908 41568 1 0.00238914
17-61571758-C-A p.Pro529Thr missense ACE 1 83160 1.2025E-5 41580 0 6.72936E-5
17-61571765-C-T p.Pro282Leu missense+splice_region ACE 1 83174 1.2023E-5 41587 0 NA
17-61571772-T-G p.Thr533Thr synonymous ACE 7 83188 8.41468E-5 41594 0 2.9329E-4
17-61571777-G-A p.Gly535Asp missense ACE 1 83194 1.20201E-5 41597 0 3.97886E-6
17-61571786-A-G p.Asp538Gly missense ACE 1 83174 1.2023E-5 41587 0 NA
17-61571794-G-A p.Ala541Thr missense ACE 1 83160 1.2025E-5 41580 0 NA
17-61571805-C-T p.His544His synonymous ACE 4 83116 4.81255E-5 41558 0 9.55414E-5
17-61571814-T-C p.Ser547Ser synonymous ACE 18 83020 2.16815E-4 41510 0 6.6879E-4
17-61571818-G-A p.Val549Met missense ACE 5 82940 6.02845E-5 41470 0 4.2959E-5
17-61571827-A-C p.Ile552Leu missense ACE 1 82826 1.20735E-5 41413 0 1.66317E-4
17-61571830-A-G p.Arg553Gly missense+splice_region ACE 1 82796 1.20779E-5 41398 0 NA
17-61571834-A-ACTTTGTCAGCTTCATCATCCAGTTCCAGTTCC c.1658+3_1658+4insCTTTGTCAGCTTCATCATCCAGTTCCAGTTCC splice_region ACE 1 82696 1.20925E-5 41348 0 NA
17-61571836-C-T c.1658+5C>T splice_region ACE 1153 82558 0.0139659 41279 34 0.0297342
17-61571837-G-A c.1658+6G>A splice_region ACE 5 82618 6.05195E-5 41309 0 1.27389E-4
17-61571839-G-A c.1658+8G>A splice_region ACE 1 82590 1.2108E-5 41295 0 9.11328E-6
17-61573751-C-T c.1659-4C>T splice_region ACE 28 82656 3.38753E-4 41328 0 0.001875
17-61573758-C-T p.Tyr554Tyr synonymous ACE 2 82720 2.41779E-5 41360 0 3.97829E-6
17-61573760-T-TCA p.Val556fs frameshift ACE 1 82730 1.20875E-5 41365 0 2.47496E-5
17-61573761-T-C p.Phe555Phe synonymous ACE 39089 81910 0.477219 40955 9529 0.523342
17-61573763-T-TAC p.Ser557fs frameshift ACE 1 82778 1.20805E-5 41389 0 2.4741E-5
17-61573764-CA-C p.Ser557fs frameshift ACE 1 82778 1.20805E-5 41389 0 NA
17-61573777-C-A p.Gln561Lys missense ACE 3 82854 3.62083E-5 41427 0 4.12398E-5
17-61573782-C-T p.Phe1136Phe splice_region+synonymous ACE 1 82856 1.20691E-5 41428