Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-131792642-C-A p.Leu1250Phe missense ADCY8 1 78350 1.27632E-5 39175 0 1.54915E-5
8-131792656-C-T p.Asp1246Asn missense ADCY8 15 81184 1.84765E-4 40592 0 6.25E-4
8-131792657-G-A p.Thr1245Thr synonymous ADCY8 3 81014 3.70306E-5 40507 0 9.94431E-5
8-131792674-C-A p.Ala1240Ser missense ADCY8 7 83110 8.42257E-5 41555 0 6.25E-4
8-131792682-T-A p.Glu1237Val missense ADCY8 1 83176 1.20227E-5 41588 0 8.24538E-6
8-131792689-C-G p.Gly1235Arg missense ADCY8 1 83214 1.20172E-5 41607 0 NA
8-131792690-G-A p.Ser1234Ser synonymous ADCY8 1 83198 1.20195E-5 41599 0 3.22935E-5
8-131792690-G-T p.Ser1234Arg missense ADCY8 1 83198 1.20195E-5 41599 0 NA
8-131792705-A-C p.Thr1229Thr synonymous ADCY8 1 83222 1.20161E-5 41611 0 3.98118E-6
8-131792709-C-T p.Arg1228Gln missense ADCY8 1 83204 1.20187E-5 41602 0 2.47158E-5
8-131792710-G-A p.Arg1228Trp missense ADCY8 1 83204 1.20187E-5 41602 0 1.99057E-5
8-131792712-C-T p.Arg1227Gln missense ADCY8 1 83200 1.20192E-5 41600 0 9.60676E-5
8-131792713-G-A p.Arg1227Trp missense ADCY8 4 83202 4.80758E-5 41601 0 5.76644E-5
8-131792725-C-A p.Gly1223Cys missense ADCY8 1 83214 1.20172E-5 41607 0 3.19836E-5
8-131792727-TTGA-T p.Ile1221del disruptive_inframe_deletion ADCY8 1 83216 1.20169E-5 41608 0 1.64756E-5
8-131792744-G-C p.Asn1216Lys missense ADCY8 1 83190 1.20207E-5 41595 0 3.98054E-6
8-131792761-G-A p.Leu1211Leu synonymous ADCY8 1 83134 1.20288E-5 41567 0 NA
8-131792769-T-A p.Gln1208Leu missense ADCY8 2 83126 2.40599E-5 41563 0 NA
8-131792771-C-T p.Arg1207Arg synonymous ADCY8 4 83108 4.81301E-5 41554 0 7.96102E-6
8-131792777-C-T p.Arg1205Arg synonymous ADCY8 15 83108 1.80488E-4 41554 0 0.003125
8-131792780-A-G p.Asn1204Asn synonymous ADCY8 320 83094 0.00385106 41547 6 0.00756367
8-131792780-A-C p.Asn1204Lys missense ADCY8 1 83100 1.20337E-5 41550 0 NA
8-131792798-T-C p.Gly1198Gly synonymous ADCY8 61 83048 7.34515E-4 41524 0 0.00159388
8-131792801-C-T p.Leu1197Leu synonymous ADCY8 2 83058 2.40796E-5 41529 0 1.19441E-5
8-131792808-A-C p.Val1195Gly missense ADCY8 1 83012 1.20465E-5 41506 0 NA
8-131792810-C-T p.Ala1194Ala synonymous ADCY8 320 83004 0.00385524 41502 6 0.00755933
8-131792812-C-T p.Ala1194Thr missense ADCY8 4 82992 4.81974E-5 41496 0 6.37796E-5
8-131792837-T-A p.Arg1185Ser missense ADCY8 1 82926 1.20589E-5 41463 0 NA
8-131792841-C-T p.Arg1184Lys missense ADCY8 1 82920 1.20598E-5 41460 0 1.19492E-5
8-131792859-G-T p.Pro1178Gln missense ADCY8 8 82866 9.65414E-5 41433 0 6.37511E-5
8-131792872-C-T p.Val1174Ile missense ADCY8 1 82852 1.20697E-5 41426 0 NA
8-131792891-C-A p.Thr1167Thr synonymous ADCY8 97 82860 0.00117065 41430 0 0.00191192
8-131792899-T-C p.Ile1165Val missense ADCY8 4 82914 4.82428E-5 41457 0 NA
8-131792907-T-C p.Glu1162Gly missense ADCY8 1 82926 1.20589E-5 41463 0 NA
8-131792920-T-A p.Ile1158Phe missense ADCY8 1 82964 1.20534E-5 41482 0 NA
8-131792936-C-G p.Glu1152Asp missense ADCY8 9 83018 1.0841E-4 41509 0 6.37146E-5
8-131792938-C-T p.Glu1152Lys missense ADCY8 2 83012 2.40929E-5 41506 0 3.18552E-5
8-131792939-C-A p.Gly1151Gly synonymous ADCY8 1 83020 1.20453E-5 41510 0 NA
8-131792965-G-C p.Gln1143Glu missense ADCY8 1 83054 1.20404E-5 41527 0 8.23764E-6
8-131792982-T-C p.Tyr1137Cys missense ADCY8 10 83090 1.20351E-4 41545 0 3.98048E-5
8-131792983-A-G p.Tyr1137His missense ADCY8 3 83086 3.61072E-5 41543 0 1.40038E-4
8-131792990-C-T p.Glu1134Glu synonymous ADCY8 8 83114 9.62533E-5 41557 0 3.58218E-5
8-131793005-C-T p.Arg1129Arg synonymous ADCY8 8 83096 9.62742E-5 41548 0 3.70675E-4
8-131793006-C-T p.Arg1129Gln missense ADCY8 18 83096 2.16617E-4 41548 0 6.25E-4
8-131793007-G-A p.Arg1129Trp missense ADCY8 4 83092 4.81394E-5 41546 0 9.06066E-5
8-131793011-A-T p.Ser1127Arg missense ADCY8 7 83094 8.42419E-5 41547 0 2.7858E-5
8-131793017-C-T p.Gly1125Gly synonymous ADCY8 2 83082 2.40726E-5 41541 0 2.47125E-5
8-131793021-G-A p.Thr1124Met missense ADCY8 1 83100 1.20337E-5 41550 0 7.96026E-6
8-131793034-G-A p.Arg1120* stop_gained ADCY8 9 83102 1.08301E-4 41551 0 7.16452E-5
8-131793043-G-C p.Leu1117Val missense ADCY8 12 83086 1.44429E-4 41543 0 1.11445E-4
8-131793062-A-G p.Ile1110Ile synonymous ADCY8 3 83042 3.61263E-5 41521 0 6.25E-4
8-131793068-A-G p.Tyr1108Tyr synonymous ADCY8 3 83034 3.61298E-5 41517 0 3.18735E-5
8-131793074-T-C p.Pro1106Pro synonymous ADCY8 2 82994 2.40981E-5 41497 0 3.18776E-5
8-131793085-C-T p.Ala1103Thr missense ADCY8 1 82912 1.2061E-5 41456 0 3.18918E-5
8-131793086-G-A p.Gly1102Gly synonymous ADCY8 1 82902 1.20624E-5 41451 0 2.78802E-5
8-131793089-G-A p.Ile1101Ile synonymous ADCY8 6 82882 7.23921E-5 41441 0 5.57684E-5
8-131793094-C-T p.Val1100Ile missense ADCY8 1 82844 1.20709E-5 41422 0 8.25341E-6
8-131793098-A-G p.Ala1098Ala synonymous ADCY8 1 82810 1.20758E-5 41405 0 2.39051E-5
8-131793107-T-C p.Ser1095Ser synonymous ADCY8 2 82736 2.41733E-5 41368 0 NA
8-131793112-C-T p.Gly1094Ser missense ADCY8 1 82688 1.20937E-5 41344 0 3.98944E-6
8-131793113-G-A p.His1093His synonymous ADCY8 3 82692 3.62792E-5 41346 0 1.19695E-5
8-131793125-TG-T c.3269-3delC splice_region ADCY8 1 82522 1.2118E-5 41261 0 3.99904E-6
8-131793126-G-A c.3269-3C>T splice_region ADCY8 32 82504 3.8786E-4 41252 0 6.37471E-4
8-131793126-G-T c.3269-3C>A splice_region ADCY8 1 82506 1.21203E-5 41253 0 3.18735E-5
8-131793127-G-C c.3269-4C>G splice_region ADCY8 3 82496 3.63654E-5 41248 0 2.50338E-5
8-131793128-G-T c.3269-5C>A splice_region ADCY8 1 82490 1.21227E-5 41245 0 6.27353E-4
8-131795942-C-T p.Arg1088Gln missense ADCY8 2 82932 2.41161E-5 41466 0 1.69105E-5
8-131795956-G-A p.Asn1083Asn synonymous ADCY8 1 82924 1.20592E-5 41462 0 2.3962E-5
8-131795986-G-A p.Ser1073Ser synonymous ADCY8 2 82864 2.41359E-5 41432 0 NA
8-131795988-T-C p.Ser1073Gly missense ADCY8 1 82858 1.20688E-5 41429 0 NA
8-131796000-C-T p.Ala1069Thr missense ADCY8 1 82798 1.20776E-5 41399 0 3.9867E-6
8-131796001-G-A p.Leu1068Leu synonymous ADCY8 1343 82756 0.0162284 41378 14 0.0226143
8-131796004-T-C p.Ser1067Ser synonymous ADCY8 1 82768 1.2082E-5 41384 0 NA
8-131796021-C-A p.Ala1062Ser missense ADCY8 1 82706 1.2091E-5 41353 0 4.13305E-5
8-131796037-C-G p.Lys1056Asn missense ADCY8 1 82634 1.21016E-5 41317 0 4.14952E-5
8-131796054-G-A c.3154-3C>T splice_region ADCY8 1 82550 1.21139E-5 41275 0 NA
8-131797622-C-A c.3153+7G>T splice_region ADCY8 1 82412 1.21342E-5 41206 0 2.58069E-5
8-131797625-T-C c.3153+4A>G splice_region ADCY8 4 82432 4.85248E-5 41216 0 NA
8-131797631-G-GT p.Gln1051fs frameshift ADCY8 1 82480 1.21242E-5 41240 0 NA
8-131797644-C-T p.Leu1046Leu synonymous ADCY8 1 82516 1.21189E-5 41258 0 NA
8-131797655-C-T p.Val1043Met missense ADCY8 1 82588 1.21083E-5 41294 0 3.26206E-5
8-131797656-G-A p.Ala1042Ala synonymous ADCY8 5 82580 6.05473E-5 41290 0 1.66533E-5
8-131797665-G-C p.Thr1039Thr synonymous ADCY8 1 82620 1.21036E-5 41310 0 NA
8-131797675-A-G p.Ile1036Thr missense ADCY8 20 82634 2.42031E-4 41317 0 3.82214E-4
8-131797683-A-G p.Ile1033Ile synonymous ADCY8 1 82626 1.21027E-5 41313 0 8.30041E-6
8-131797703-A-C p.Phe1027Val missense ADCY8 1 82560 1.21124E-5 41280 0 NA
8-131797705-C-T p.Arg1026Gln missense ADCY8 1 82538 1.21156E-5 41269 0 8.34321E-6
8-131797707-G-A p.Asp1025Asp synonymous ADCY8 1 82538 1.21156E-5 41269 0 NA
8-131797729-A-C c.3061-8T>G splice_region ADCY8 2 82392 2.42742E-5 41196 0 3.1841E-5
8-131812669-T-C c.3060+3A>G splice_region ADCY8 1 83348 1.19979E-5 41674 0 3.97659E-6
8-131812678-G-A p.Phe1018Phe synonymous ADCY8 23 83352 2.75938E-4 41676 0 5.04032E-4
8-131812697-T-C p.Asn1012Ser missense ADCY8 1 83354 1.1997E-5 41677 0 1.64731E-5
8-131812702-C-A p.Leu1010Phe missense ADCY8 1 83348 1.19979E-5 41674 0 NA
8-131812706-C-T p.Arg1009His missense ADCY8 1 83336 1.19996E-5 41668 0 NA
8-131812717-C-T p.Val1005Val synonymous ADCY8 1 83350 1.19976E-5 41675 0 8.23655E-6
8-131812756-C-T p.Ala992Ala synonymous ADCY8 951 83300 0.0114166 41650 30 0.0240342
8-131812772-G-C p.Ser987Cys missense ADCY8 4 83296 4.80215E-5 41648 0 3.18674E-5
8-131812792-A-T p.Ala980Ala synonymous ADCY8 1 83256 1.20111E-5 41628 0 NA
8-131812801-G-A p.Ser977Ser synonymous ADCY8 1 83234 1.20143E-5 41617 0 3.97915E-6
8-131812816-C-T p.Glu972Glu splice_region+synonymous ADCY8 3 83166 3.60724E-5 41583 0 3.98137E-6
8-131826312-C-T c.2913+3G>A splice_region ADCY8 456 83318 0.00547301 41659 11 0.0115679
8-131826322-T-G p.Asp969Ala missense ADCY8 1 83344 1.19985E-5 41672 0 3.97738E-6
8-131826325-C-T p.Arg968Gln missense ADCY8 2 83354 2.3994E-5 41677 0 1.27445E-4
8-131826335-C-G p.Glu965Gln missense ADCY8 1 83368 1.1995E-5 41684 0 8.24035E-6
8-131826346-C-T p.Arg961His missense ADCY8 2 83372 2.39889E-5 41686 0 1.64883E-5
8-131826347-G-A p.Arg961Cys missense ADCY8 6 83370 7.19683E-5 41685 0 7.55623E-5
8-131826358-C-A p.Ser957Ile missense ADCY8 1 83366 1.19953E-5 41683 0 NA
8-131826363-T-A p.Leu955Phe missense ADCY8 1 83360 1.19962E-5 41680 0 1.59418E-5
8-131826373-C-T p.Arg952Gln missense ADCY8 4 83364 4.79823E-5 41682 0 1.59327E-4
8-131826374-G-A p.Arg952Trp missense ADCY8 5 83354 5.99851E-5 41677 0 1.59307E-4
8-131826376-A-T p.Leu951His missense ADCY8 1 83360 1.19962E-5 41680 0 NA
8-131826399-C-T p.Leu943Leu synonymous ADCY8 2 83366 2.39906E-5 41683 0 NA
8-131826402-C-T p.Glu942Glu synonymous ADCY8 1 83368 1.1995E-5 41684 0 NA
8-131826406-T-G p.Lys941Thr missense ADCY8 1 83366 1.19953E-5 41683 0 3.18695E-5
8-131826414-A-G p.Asn938Asn synonymous ADCY8 1 83368 1.1995E-5 41684 0 3.29478E-5
8-131826432-C-T p.Gln932Gln synonymous ADCY8 3 83352 3.59919E-5 41676 0 7.95418E-6
8-131826439-C-T p.Arg930Gln missense ADCY8 1 83336 1.19996E-5 41668 0 3.97747E-6
8-131826440-G-T p.Arg930Arg synonymous ADCY8 2 83326 2.40021E-5 41663 0 3.97779E-6
8-131826452-C-T p.Asp926Asn missense ADCY8 1 83312 1.20031E-5 41656 0 3.18552E-5
8-131826457-C-T p.Arg924His missense ADCY8 1 83300 1.20048E-5 41650 0 7.95754E-6
8-131826458-G-T p.Arg924Ser missense ADCY8 3 83296 3.60161E-5 41648 0 3.97905E-6
8-131826458-G-A p.Arg924Cys missense ADCY8 2 83296 2.40108E-5 41648 0 3.18715E-5
8-131826481-A-T c.2755-8T>A splice_region ADCY8 1 83224 1.20158E-5 41612 0 1.65049E-5
8-131833620-A-C p.Phe908Val missense ADCY8 2 83222 2.40321E-5 41611 0 NA
8-131833623-T-C p.Met907Val missense ADCY8 1 83230 1.20149E-5 41615 0 2.50539E-5
8-131833641-A-T p.Ser901Thr missense ADCY8 2 83206 2.40367E-5 41603 0 8.41538E-6
8-131833644-C-T p.Val900Ile missense ADCY8 1 83196 1.20198E-5 41598 0 3.98438E-6
8-131833646-T-TC p.Glu899fs frameshift ADCY8 2 83198 2.4039E-5 41599 0 NA
8-131833652-G-A p.Thr897Ile missense ADCY8 1 83180 1.20221E-5 41590 0 3.39963E-5
8-131833656-C-T p.Gly896Arg missense ADCY8 1 83170 1.20236E-5 41585 0 3.98743E-6
8-131833662-A-T p.Phe894Ile missense ADCY8 3 83164 3.60733E-5 41582 0 1.73178E-5
8-131833663-A-G p.Asp893Asp synonymous ADCY8 1 83150 1.20265E-5 41575 0 NA
8-131833670-T-C c.2676-4A>G splice_region ADCY8 1 83108 1.20325E-5 41554 0 3.1953E-5
8-131848531-G-C p.His889Gln missense ADCY8 1 82838 1.20718E-5 41419 0 NA
8-131848550-C-G p.Arg883Pro missense ADCY8 3 82750 3.62538E-5 41375 0 8.32348E-6
8-131848561-G-A p.Gly879Gly synonymous ADCY8 1 82684 1.20942E-5 41342 0 NA
8-131848565-G-A p.Ala878Val missense ADCY8 2 82654 2.41973E-5 41327 0 NA
8-131848567-G-A p.Tyr877Tyr synonymous ADCY8 1 82634 1.21016E-5 41317 0 6.37227E-5
8-131848572-C-T p.Val876Ile missense ADCY8 8 82610 9.68406E-5 41305 0 1.65036E-4
8-131848573-G-A p.Thr875Thr synonymous ADCY8 2 82602 2.42125E-5 41301 0 6.37349E-5
8-131848588-G-A p.Ala870Ala synonymous ADCY8 2 82550 2.42277E-5 41275 0 3.98616E-6
8-131848588-G-T p.Ala870Ala synonymous ADCY8 1 82550 1.21139E-5 41275 0 6.77647E-5
8-131848589-G-A p.Ala870Val missense ADCY8 1 82548 1.21142E-5 41274 0 NA
8-131848597-G-A p.Ala867Ala synonymous ADCY8 2 82542 2.42301E-5 41271 0 6.25E-4
8-131848616-A-G p.Val861Ala missense ADCY8 1 82448 1.21289E-5 41224 0 NA
8-131848621-C-T p.Leu859Leu synonymous ADCY8 1 82442 1.21297E-5 41221 0 NA
8-131848625-T-C p.Lys858Arg missense ADCY8 1 82438 1.21303E-5 41219 0 NA
8-131848632-C-T p.Val856Ile missense ADCY8 4 82416 4.85343E-5 41208 0 5.03525E-4
8-131848667-A-G p.Met844Thr missense ADCY8 2 82402 2.42713E-5 41201 0 7.98078E-6
8-131848675-C-T p.Val841Val synonymous ADCY8 1 82344 1.21442E-5 41172 0 8.32002E-6
8-131848681-C-T p.Thr839Thr synonymous ADCY8 3 82312 3.64467E-5 41156 0 1.6006E-5
8-131848682-G-A p.Thr839Met missense ADCY8 1 82304 1.21501E-5 41152 0 9.55597E-5
8-131848689-C-T p.Val837Ile missense ADCY8 4 82294 4.86062E-5 41147 0 2.52003E-5
8-131848691-A-G p.Phe836Ser missense ADCY8 1 82264 1.2156E-5 41132 0 6.36983E-5
8-131859681-A-T p.Ser831Thr missense ADCY8 1 83216 1.20169E-5 41608 0 8.43369E-6
8-131859686-A-T p.Ile829Asn missense ADCY8 1 83198 1.20195E-5 41599 0 NA
8-131859697-C-A p.Val825Val synonymous ADCY8 1 83234 1.20143E-5 41617 0 7.96159E-6
8-131859701-G-A p.Ala824Val missense ADCY8 2 83236 2.40281E-5 41618 0 1.6645E-5
8-131859702-C-A p.Ala824Ser missense ADCY8 1 83234 1.20143E-5 41617 0 1.99029E-5
8-131859706-G-A p.Ser822Ser synonymous ADCY8 1 83240 1.20135E-5 41620 0 7.96033E-6
8-131859707-G-A p.Ser822Phe missense ADCY8 6 83234 7.20859E-5 41617 0 0.00100806
8-131859722-T-A p.Asn817Ile missense ADCY8 1 83202 1.20189E-5 41601 0 NA
8-131859737-G-A p.Ser812Leu missense ADCY8 20 83038 2.40854E-4 41519 0 6.25E-4
8-131859742-G-C p.Asp810Glu missense ADCY8 1 82938 1.20572E-5 41469 0 2.80231E-5
8-131859743-T-C p.Asp810Gly missense ADCY8 2 82944 2.41127E-5 41472 0 3.45375E-5
8-131859744-C-G p.Asp810His missense ADCY8 16 82952 1.92883E-4 41476 0 5.06073E-4
8-131859754-C-T p.Trp806* stop_gained ADCY8 1 82740 1.20861E-5 41370 0 NA
8-131859756-A-G p.Trp806Arg missense ADCY8 2 82580 2.42189E-5 41290 0 8.44422E-5
8-131859763-C-T c.2413-4G>A splice_region ADCY8 11 81902 1.34307E-4 40951 0 1.08129E-4
8-131859764-G-A c.2413-5C>T splice_region ADCY8 9 82090 1.09636E-4 41045 0 9.13075E-5
8-131861840-A-G c.2412+8T>C splice_region ADCY8 1 82712 1.20901E-5 41356 0 8.29834E-6
8-131861842-G-A c.2412+6C>T splice_region ADCY8 1 82734 1.20869E-5 41367 0 NA
8-131861862-C-A p.Ala800Ser missense ADCY8 1 82928 1.20587E-5 41464 0 7.96711E-6
8-131861882-A-G p.Ile793Thr missense ADCY8 2 83016 2.40917E-5 41508 0 8.25191E-6
8-131861883-T-C p.Ile793Val missense ADCY8 1 83022 1.2045E-5 41511 0 8.25137E-6
8-131861884-G-A p.Ser792Ser synonymous ADCY8 3 83022 3.6135E-5 41511 0 5.17664E-5
8-131861894-A-G p.Ile789Thr missense ADCY8 1 83016 1.20459E-5 41508 0 NA
8-131861902-G-A p.Asn786Asn synonymous ADCY8 1 82984 1.20505E-5 41492 0 1.99098E-5
8-131861909-G-A p.Ala784Val missense ADCY8 1 82986 1.20502E-5 41493 0 NA
8-131861917-G-A p.Thr781Thr synonymous ADCY8 57 82978 6.86929E-4 41489 0 0.00146506
8-131861920-C-T p.Glu780Glu synonymous ADCY8 1 82960 1.2054E-5 41480 0 3.98276E-6
8-131861929-C-A p.Trp777Cys missense ADCY8 1 82902 1.20624E-5 41451 0 NA
8-131861937-A-T p.Cys775Ser missense ADCY8 1 82876 1.20662E-5 41438 0 NA
8-131861941-T-A p.Lys773Asn missense ADCY8 1 82848 1.20703E-5 41424 0 NA
8-131861944-C-T p.Arg772Arg synonymous ADCY8 1 82826 1.20735E-5 41413 0 3.98454E-6
8-131861945-C-T p.Arg772Gln missense ADCY8 6 82826 7.2441E-5 41413 0 5.03525E-4
8-131861946-G-A p.Arg772Trp missense ADCY8 1 82810 1.20758E-5 41405 0 3.18451E-5
8-131861951-A-T p.Ile770Asn missense ADCY8 1 82786 1.20793E-5 41393 0 3.98537E-6
8-131861954-A-G p.Leu769Pro missense ADCY8 1 82772 1.20814E-5 41386 0 1.66506E-5
8-131861955-G-A p.Leu769Phe missense ADCY8 2 82776 2.41616E-5 41388 0 8.32529E-6
8-131861968-A-G p.Tyr764Tyr synonymous ADCY8 1 82666 1.20969E-5 41333 0 NA
8-131861973-C-T p.Asp763Asn missense ADCY8 2 82594 2.42148E-5 41297 0 8.42049E-6
8-131862001-C-T p.Ser753Ser synonymous ADCY8 2 82442 2.42595E-5 41221 0 4.34473E-5
8-131862008-A-G p.Leu751Pro missense ADCY8 1 82416 1.21336E-5 41208 0 NA
8-131862016-C-T p.Leu748Leu synonymous ADCY8 1 82380 1.21389E-5 41190 0 NA
8-131862046-C-G p.Val738Val synonymous ADCY8 35 82110 4.26257E-4 41055 0 4.77707E-4
8-131862050-C-T c.2211-1G>A splice_acceptor ADCY8 2 82056 2.43736E-5 41028 0 NA
8-131862052-G-A c.2211-3C>T splice_region ADCY8 1 81966 1.22002E-5 40983 0 1.02686E-5
8-131880084-A-T c.2210+8T>A splice_region ADCY8 1 82532 1.21165E-5 41266 0 NA
8-131880086-A-G c.2210+6T>C splice_region ADCY8 34 82618 4.11533E-4 41309 0 6.68619E-4
8-131880087-T-C c.2210+5A>G splice_region ADCY8 1 82632 1.21018E-5 41316 0 3.1841E-5
8-131880098-G-T p.Ser735Tyr missense ADCY8 1 82750 1.20846E-5 41375 0 NA
8-131880119-G-A p.Ala728Val missense ADCY8 1 82888 1.20645E-5 41444 0 8.26679E-6
8-131880120-C-G p.Ala728Pro missense ADCY8 11 82894 1.327E-4 41447 0 5.03525E-4
8-131880121-C-T p.Thr727Thr synonymous ADCY8 1 82890 1.20642E-5 41445 0 3.18674E-5
8-131880124-G-T p.Ile726Ile synonymous ADCY8 1 82942 1.20566E-5 41471 0 3.99466E-6
8-131880138-C-T p.Val722Ile missense ADCY8 16 82960 1.92864E-4 41480 0 1.59297E-4
8-131880138-C-A p.Val722Phe missense ADCY8 1 82960 1.2054E-5 41480 0 8.25955E-6
8-131880140-A-G p.Ile721Thr missense ADCY8 8 82966 9.6425E-5 41483 0 2.79611E-5
8-131880158-T-G p.Asn715Thr missense ADCY8 1 82952 1.20552E-5 41476 0 NA
8-131896823-C-T p.Ser699Asn missense ADCY8 1 82962 1.20537E-5 41481 0 3.9853E-6
8-131896837-C-T p.Met694Ile missense ADCY8 3 83044 3.61254E-5 41522 0 5.17743E-5
8-131896838-A-G p.Met694Thr missense ADCY8 3 83052 3.61219E-5 41526 0 2.47345E-5
8-131896842-G-T p.Leu693Met missense ADCY8 1 83032 1.20435E-5 41516 0 3.18471E-5
8-131896844-G-A p.Ser692Leu missense ADCY8 4 83032 4.81742E-5 41516 0 NA
8-131896852-C-T p.Lys689Lys synonymous ADCY8 3 83032 3.61306E-5 41516 0 NA
8-131896879-G-A p.Gly680Gly synonymous ADCY8 5 83026 6.02221E-5 41513 0 1.15432E-4
8-131896879-G-C p.Gly680Gly synonymous ADCY8 1 83026 1.20444E-5 41513 0 4.94707E-5
8-131896949-G-A p.Ala657Val missense ADCY8 3 82632 3.63055E-5 41316 0 8.24185E-6
8-131896968-GAAGCAGATT-G p.Asn648_Leu650del conservative_inframe_deletion ADCY8 1 82544 1.21148E-5 41272 0 NA
8-131896980-T-C p.Ile647Val missense ADCY8 1 82490 1.21227E-5 41245 0 NA
8-131896983-A-T p.Ser646Thr missense ADCY8 1 82466 1.21262E-5 41233 0 NA
8-131896984-A-C p.Asn645Lys missense ADCY8 1 82470 1.21256E-5 41235 0 NA
8-131896989-T-A p.Arg644* stop_gained ADCY8 1 82448 1.21289E-5 41224 0 NA
8-131897004-G-C p.Leu639Val missense ADCY8 1 82362 1.21415E-5 41181 0 7.97874E-6
8-131897013-G-T c.1912-6C>A splice_region ADCY8 1 82280 1.21536E-5 41140 0 NA
8-131916032-C-T p.Val633Met missense ADCY8 4 82492 4.84895E-5 41246 0 8.25083E-5
8-131916033-G-T p.Ile632Ile synonymous ADCY8 1 82530 1.21168E-5 41265 0 NA
8-131916033-G-A p.Ile632Ile synonymous ADCY8 2 82530 2.42336E-5 41265 0 4.38251E-5
8-131916048-C-A p.Leu627Leu synonymous ADCY8 1 82848 1.20703E-5 41424 0 3.18939E-5
8-131916057-G-A p.Ser624Ser synonymous ADCY8 2 82930 2.41167E-5 41465 0 7.96381E-6
8-131916097-C-T p.Arg611Gln missense ADCY8 2 83040 2.40848E-5 41520 0 4.94503E-5
8-131916098-GG-CA p.AspArg610AspGly missense ADCY8 89 83034 0.00107185 41517 2 NA
8-131916098-G-C p.Arg611Gly missense ADCY8 4 83034 4.8173E-5 41517 0 0.002232
8-131916098-G-A p.Arg611Trp missense ADCY8 1 83034 1.20433E-5 41517 0 1.19428E-5
8-131916099-G-A p.Asp610Asp synonymous ADCY8 4 83030 4.81754E-5 41515 0 0.00223172
8-131916102-T-A p.Ser609Ser synonymous ADCY8 2 83030 2.40877E-5 41515 0 NA
8-131916125-C-T p.Val602Ile missense ADCY8 8 83008 9.63763E-5 41504 0 3.29641E-5
8-131916126-G-A p.Ile601Ile synonymous ADCY8 13 83016 1.56596E-4 41508 0 5.03525E-4
8-131916131-C-T p.Asp600Asn missense ADCY8 1 83014 1.20462E-5 41507 0 NA
8-131916134-C-T p.Glu599Lys missense ADCY8 1 83010 1.20467E-5 41505 0 3.29609E-5
8-131916155-C-A p.Asp592Tyr missense ADCY8 1 82988 1.20499E-5 41494 0 NA
8-131916159-A-G p.Pro590Pro synonymous ADCY8 2 82990 2.40993E-5 41495 0 1.2338E-4
8-131916165-C-T p.Lys588Lys synonymous ADCY8 1 83006 1.20473E-5 41503 0 6.25E-4
8-131916173-A-C p.Leu586Val missense ADCY8 1 83010 1.20467E-5 41505 0 1.19408E-5
8-131916182-C-T p.Glu583Lys missense ADCY8 36 82978 4.3385E-4 41489 0 2.86734E-4
8-131916183-G-A p.Ile582Ile synonymous ADCY8 11 82980 1.32562E-4 41490 0 1.75137E-4
8-131916187-T-C p.Asn581Ser missense ADCY8 1 82984 1.20505E-5 41492 0 NA
8-131916207-A-T p.Asn574Lys missense ADCY8 1 82978 1.20514E-5 41489 0 NA
8-131916210-C-T p.Arg573Arg synonymous ADCY8 1 82966 1.20531E-5 41483 0 NA
8-131916236-C-T p.Val565Met missense ADCY8 1 82852 1.20697E-5 41426 0 1.27397E-4
8-131916237-G-A p.Asn564Asn synonymous ADCY8 41 82858 4.94822E-4 41429 0 0.00117857
8-131916248-C-T p.Gly561Ser missense ADCY8 1 82822 1.20741E-5 41411 0 5.78092E-5
8-131916249-G-A p.Asn560Asn synonymous ADCY8 2 82826 2.4147E-5 41413 0 1.91144E-4
8-131916258-G-T p.Asp557Glu missense ADCY8 1 82824 1.20738E-5 41412 0 NA
8-131916264-C-T p.Thr555Thr synonymous ADCY8 8 82806 9.66114E-5 41403 0 6.25E-4
8-131916265-G-A p.Thr555Met missense ADCY8 5 82798 6.03879E-5 41399 1 5.18664E-5
8-131916292-T-C c.1641-4A>G splice_region ADCY8 1 82748 1.20849E-5 41374 0 2.41779E-5
8-131916293-G-A c.1641-5C>T splice_region ADCY8 1 82736 1.20866E-5 41368 0 3.18431E-5
8-131916295-G-T c.1641-7C>A splice_region ADCY8 1 82728 1.20878E-5 41364 0 NA
8-131921956-A-G p.Pro546Pro splice_region+synonymous ADCY8 51577 82334 0.626436 41167 16476 0.643209
8-131921956-AGG-GGA p.Pro546Ser missense+splice_region ADCY8 1 83332 1.20002E-5 41666 0 NA
8-131921958-G-A p.Pro546Ser missense ADCY8 1 83330 1.20005E-5 41665 0 NA
8-131921969-G-C p.Ser542Cys missense ADCY8 3 83334 3.59997E-5 41667 0 6.37471E-5
8-131921974-G-A p.Leu540Leu synonymous ADCY8 4 83334 4.79996E-5 41667 0 3.29495E-5
8-131922010-A-ACACACACACACACACACACAC p.Asp528delinsGluCysValCysValCysValCys disruptive_inframe_insertion ADCY8 1 83330 1.20005E-5 41665 0 NA
8-131922026-CT-TG p.Arg523Gln missense ADCY8 3 83322 3.60049E-5 41661 0 NA
8-131922027-T-G p.Arg523Arg synonymous ADCY8 12099 83160 0.145491 41580 944 0.150079
8-131922031-T-C p.Gly521Gly synonymous ADCY8 1 83314 1.20028E-5 41657 0 NA
8-131922042-C-T p.Gly518Ser missense ADCY8 1 83304 1.20042E-5 41652 0 6.25E-4
8-131922043-G-A p.Cys517Cys synonymous ADCY8 10 83300 1.20048E-4 41650 0 1.9129E-4
8-131922046-C-A p.Leu516Leu synonymous ADCY8 1 83300 1.20048E-5 41650 0 NA
8-131922052-C-T p.Ser514Ser synonymous ADCY8 8 83300 9.60384E-5 41650 0 1.56515E-4
8-131922053-G-A p.Ser514Leu missense ADCY8 1 83294 1.20057E-5 41647 0 3.18715E-5
8-131922058-G-A p.Ser512Ser synonymous ADCY8 8 83294 9.60453E-5 41647 0 0.00149853
8-131922061-G-A p.His511His synonymous ADCY8 2 83306 2.40079E-5 41653 0 7.96077E-6
8-131922103-C-T p.Arg497Arg synonymous ADCY8 1 83302 1.20045E-5 41651 0 8.24389E-6
8-131922104-C-T p.Arg497Gln missense ADCY8 1 83298 1.20051E-5 41649 0 3.19081E-5
8-131949325-G-A p.Thr492Ile missense ADCY8 1 82922 1.20595E-5 41461 0 NA
8-131949354-A-G p.Cys482Cys synonymous ADCY8 1 83072 1.20378E-5 41536 0 NA
8-131949363-G-T p.Ala479Ala synonymous ADCY8 1 83068 1.20383E-5 41534 0 NA
8-131949366-A-G p.His478His synonymous ADCY8 4 83086 4.81429E-5 41543 0 6.25E-4
8-131949376-C-T p.Arg475His missense ADCY8 3 83036 3.61289E-5 41518 0 3.3E-5
8-131949393-A-T p.Ser469Ser synonymous ADCY8 1 83048 1.20412E-5 41524 0 NA
8-131949393-A-G p.Ser469Ser synonymous ADCY8 1 83048 1.20412E-5 41524 0 NA
8-131949430-C-T p.Arg457His missense ADCY8 4 82556 4.8452E-5 41278 0 1.19801E-5
8-131949444-C-T p.Glu452Glu splice_region+synonymous ADCY8 1 82254 1.21575E-5 41127 0 3.18512E-5
8-131949450-G-A c.1354-4C>T splice_region ADCY8 2 82106 2.43588E-5 41053 0 9.15382E-6
8-131955601-G-C p.Ala450Gly missense ADCY8 2 83106 2.40657E-5 41553 0 8.46367E-6
8-131955607-C-T p.Arg448Gln missense ADCY8 2 83146 2.40541E-5 41573 0 5.04685E-5
8-131955607-C-A p.Arg448Leu missense ADCY8 1 83146 1.2027E-5 41573 0 1.1946E-5
8-131955630-G-A p.Asn440Asn synonymous ADCY8 4 83226 4.80619E-5 41613 0 3.18979E-5
8-131955633-G-A p.Leu439Leu synonymous ADCY8 2 83242 2.40263E-5 41621 0 1.19388E-5
8-131955641-T-C p.Arg437Gly missense ADCY8 3 83248 3.60369E-5 41624 0 3.97915E-6
8-131955645-C-T p.Leu435Leu synonymous ADCY8 3 83236 3.60421E-5 41618 0 5.05051E-4
8-131955663-G-C p.Thr429Thr synonymous ADCY8 3 83192 3.60612E-5 41596 0 4.1675E-5
8-131955666-C-T p.Thr428Thr synonymous ADCY8 1 83154 1.20259E-5 41577 0 2.38871E-5
8-131955687-T-C p.Lys421Lys synonymous ADCY8 3 82896 3.61899E-5 41448 0 NA
8-131955712-AAC-A c.1242-6_1242-5delGT splice_region ADCY8 1 78774 1.26945E-5 39387 0 1.24173E-5
8-131955716-C-G c.1242-8G>C splice_region ADCY8 3 75864 3.95444E-5 37932 0 NA
8-131964118-C-T p.Val413Ile missense ADCY8 47 83354 5.6386E-4 41677 0 6.37064E-4
8-131964119-G-A p.Asn412Asn synonymous ADCY8 2 83356 2.39935E-5 41678 0 1.649E-5
8-131964129-C-T p.Arg409His missense ADCY8 1 83358 1.19964E-5 41679 0 1.64864E-5
8-131964130-G-A p.Arg409Cys missense ADCY8 1 83358 1.19964E-5 41679 0 3.97693E-6
8-131964137-G-A p.Tyr406Tyr synonymous ADCY8 1 83366 1.19953E-5 41683 0 NA
8-131964158-C-G p.Gln399His missense ADCY8 1 83368 1.1995E-5 41684 0 NA
8-131964159-T-C p.Gln399Arg missense ADCY8 1 83376 1.19939E-5 41688 0 NA
8-131964159-T-G p.Gln399Pro missense ADCY8 3 83376 3.59816E-5 41688 0 3.97646E-6
8-131964166-G-A p.His397Tyr missense ADCY8 4 83370 4.79789E-5 41685 0 3.18512E-5
8-131964167-C-T p.Glu396Glu synonymous ADCY8 166 83366 0.00199122 41683 0 0.00264399
8-131964173-T-G p.Glu394Asp missense ADCY8 1 83368 1.1995E-5 41684 0 NA
8-131964174-T-C p.Glu394Gly missense ADCY8 1 83366 1.19953E-5 41683 0 1.19294E-5
8-131964178-C-T p.Val393Met missense ADCY8 1 83376 1.19939E-5 41688 0 3.18613E-5
8-131964180-T-C p.Asn392Ser missense ADCY8 2 83374 2.39883E-5 41687 0 NA
8-131964183-G-A p.Thr391Ile missense ADCY8 1 83364 1.19956E-5 41682 0 1.193E-5
8-131964184-T-A p.Thr391Ser missense ADCY8 1 83366 1.19953E-5 41683 0 NA
8-131964184-T-C p.Thr391Ala missense ADCY8 1 83366 1.19953E-5 41683 0 NA
8-131964190-C-T p.Asp389Asn missense ADCY8 2 83356 2.39935E-5 41678 0 NA
8-131964209-A-G p.Val382Val synonymous ADCY8 1 83340 1.1999E-5 41670 0 NA
8-131964215-C-T p.Arg380Arg synonymous ADCY8 1 83316 1.20025E-5 41658 0 1.6481E-5
8-131964216-C-T p.Arg380Gln missense ADCY8 2 83302 2.4009E-5 41651 0 2.79477E-5
8-131964226-C-G p.Val377Leu missense ADCY8 2 83254 2.40229E-5 41627 0 NA
8-131964235-C-T p.Val374Met missense ADCY8 4 83100 4.81348E-5 41550 0 2.12688E-5
8-131964240-C-T p.Arg372Gln missense ADCY8 1 83336 1.19996E-5 41668 0 8.24688E-6
8-131964249-A-G c.1111-5T>C splice_region ADCY8 1 83330 1.20005E-5 41665 0 8.25055E-6
8-131964251-C-T c.1111-7G>A splice_region ADCY8 2 83332 2.40004E-5 41666 0 1.65052E-5
8-132002639-C-A p.Gln370His missense+splice_region ADCY8 1 82702 1.20916E-5 41351 0 NA
8-132002654-T-C p.Thr365Thr synonymous ADCY8 1 82768 1.2082E-5 41384 0 1.6488E-5
8-132002656-T-A p.Thr365Ser missense ADCY8 3 82746 3.62555E-5 41373 0 3.18552E-5
8-132002663-G-A p.Arg362Arg synonymous ADCY8 1 82806 1.20764E-5 41403 0 3.18431E-5
8-132002668-G-T p.Leu361Met missense ADCY8 1 82814 1.20753E-5 41407 0 9.55292E-5
8-132002705-T-C p.Gln348Gln synonymous ADCY8 1 82824 1.20738E-5 41412 0 5.7672E-5
8-132002714-G-A p.Ala345Ala synonymous ADCY8 2 82830 2.41458E-5 41415 0 1.2734E-4
8-132002738-G-A p.Phe337Phe synonymous ADCY8 2 82850 2.414E-5 41425 0 8.23968E-6
8-132002745-C-G p.Gly335Ala missense ADCY8 1 82858 1.20688E-5 41429 0 NA
8-132002753-G-A p.Asn332Asn synonymous ADCY8 1 82850 1.207E-5 41425 0 NA
8-132002770-G-A p.Leu327Leu synonymous ADCY8 19221 82200 0.233832 41100 2951 0.288788
8-132002771-C-A p.Val326Val synonymous ADCY8 1 82812 1.20755E-5 41406 0 3.29701E-5
8-132002782-C-A p.Ala323Ser missense ADCY8 1 82760 1.20831E-5 41380 0 8.24511E-6
8-132002786-A-C p.Val321Val splice_region+synonymous ADCY8 7 82764 8.45778E-5 41382 0 3.95383E-4
8-132002795-T-C c.961-7A>G splice_region ADCY8 8 82720 9.67118E-5 41360 0 1.64987E-5
8-132003108-C-T c.-169G>A 5_prime_UTR_premature_start_codon_gain ADCY8 1 3762 2.65816E-4 1881 0 3.18471E-5
8-132051613-G-T c.960+7C>A splice_region ADCY8 1 82898 1.2063E-5 41449 0 3.18492E-5
8-132051618-A-T c.960+2T>A splice_donor ADCY8 1 82954 1.20549E-5 41477 0 NA
8-132051635-G-A p.Val315Val synonymous ADCY8 771 83092 0.00927887 41546 26 0.0198572
8-132051649-G-T p.Pro311Thr missense ADCY8 2 83196 2.40396E-5 41598 0 NA
8-132051656-C-T p.Val308Val synonymous ADCY8 1 83188 1.2021E-5 41594 0 1.19647E-5
8-132051658-C-A p.Val308Leu missense ADCY8 2 83210 2.40356E-5 41605 0 2.49472E-5
8-132051664-G-T p.Leu306Ile missense ADCY8 1 83206 1.20184E-5 41603 0 NA
8-132051669-A-G p.Val304Ala missense ADCY8 1 83214 1.20172E-5 41607 0 3.98365E-6
8-132051674-C-T p.Leu302Leu synonymous ADCY8 1 83210 1.20178E-5 41605 0 NA
8-132051677-C-CAGGGTGTTGT p.Leu302fs frameshift ADCY8 1 83206 1.20184E-5 41603 0 NA
8-132051701-G-T p.Ile293Ile synonymous ADCY8 78 83206 9.37432E-4 41603 0 0.00100705
8-132051720-A-C p.Leu287Arg missense ADCY8 2 83152 2.40523E-5 41576 0 1.66096E-5
8-132051730-T-C p.Met284Val missense ADCY8 1 83122 1.20305E-5 41561 0 NA
8-132051731-A-C p.Ser283Arg missense ADCY8 1 83108 1.20325E-5 41554 0 NA
8-132051742-C-T p.Ala280Thr missense ADCY8 2 83068 2.40767E-5 41534 0 4.38589E-5
8-132051750-G-A p.Thr277Met missense ADCY8 1 83036 1.2043E-5 41518 0 2.49468E-5
8-132051757-G-T p.Leu275Ile missense ADCY8 1 83042 1.20421E-5 41521 0 NA
8-132051776-G-T p.Gly268Gly synonymous ADCY8 1 82914 1.20607E-5 41457 0 NA
8-132051784-G-T p.Leu266Ile missense ADCY8 4 82948 4.8223E-5 41474 0 3.32862E-5
8-132051787-C-A p.Gly265Trp missense ADCY8 1 82936 1.20575E-5 41468 0 3.18735E-5
8-132051789-T-C p.Tyr264Cys missense ADCY8 2 82912 2.4122E-5 41456 0 1.66417E-5
8-132051796-G-C p.Leu262Val missense ADCY8 1 82956 1.20546E-5 41478 0 NA
8-132051799-C-T p.Gly261Ser missense ADCY8 6 82958 7.23258E-5 41479 0 9.56084E-5
8-132051802-C-T p.Ala260Thr missense ADCY8 1 82932 1.20581E-5 41466 0 NA
8-132051804-G-C p.Ala259Gly missense ADCY8 2 82928 2.41173E-5 41464 0 7.98524E-6
8-132051804-G-T p.Ala259Glu missense ADCY8 1 82928 1.20587E-5 41464 0 3.18735E-5
8-132051806-C-G p.Leu258Leu synonymous ADCY8 6 82932 7.23484E-5 41466 0 3.32851E-5
8-132051812-C-G p.Gln256His missense ADCY8 2 82922 2.41191E-5 41461 0 NA
8-132051816-G-A p.Thr255Ile missense ADCY8 2 82918 2.41202E-5 41459 0 1.59645E-5
8-132051817-T-C p.Thr255Ala missense ADCY8 3 82900 3.61882E-5 41450 0 3.19315E-5
8-132051829-C-T p.Val251Met missense ADCY8 4 82896 4.82532E-5 41448 0 8.31781E-6
8-132051834-G-C p.Thr249Ser missense ADCY8 118 82904 0.00142333 41452 0 0.00158801
8-132051860-C-G p.Thr240Thr synonymous ADCY8 7 82954 8.43841E-5 41477 0 7.17086E-5
8-132051861-G-C p.Thr240Arg missense ADCY8 1 82958 1.20543E-5 41479 0 3.18778E-5
8-132051863-G-A p.His239His synonymous ADCY8 1 82954 1.20549E-5 41477 0 NA
8-132051881-C-T p.Arg233Arg synonymous ADCY8 1 82934 1.20578E-5 41467 0 NA
8-132051888-A-G p.Val231Ala missense ADCY8 1 82904 1.20621E-5 41452 0 3.98295E-6
8-132051919-C-T p.Gly221Ser missense ADCY8 1 82798 1.20776E-5 41399 0 1.65483E-5
8-132051922-T-C p.Thr220Ala missense ADCY8 42 82800 5.07246E-4 41400 0 8.93226E-4
8-132051943-C-T p.Gly213Ser missense ADCY8 2 82536 2.42319E-5 41268 0 NA
8-132051949-G-A p.Leu211Phe missense ADCY8 2 82360 2.42836E-5 41180 0 8.26241E-6
8-132051953-G-T p.Asp209Glu missense ADCY8 6 82308 7.28969E-5 41154 0 1.99121E-5
8-132051957-A-T p.Met208Lys missense ADCY8 2 82334 2.42913E-5 41167 0 NA
8-132051958-T-C p.Met208Val missense ADCY8 74 82328 8.98844E-4 41164 0 8.01176E-4
8-132051959-G-A p.Pro207Pro synonymous ADCY8 1 82344 1.21442E-5 41172 0 NA
8-132051960-G-T p.Pro207His missense ADCY8 1 82306 1.21498E-5 41153 0 6.37877E-5
8-132051960-G-A p.Pro207Leu missense ADCY8 1 82306 1.21498E-5 41153 0 3.18939E-5
8-132051969-G-T p.Ala204Asp missense ADCY8 1 82348 1.21436E-5 41174 0 1.65161E-5
8-132051970-C-A p.Ala204Ser missense ADCY8 1022 82314 0.0124159 41157 12 0.026875
8-132051977-C-G p.Leu201Phe missense ADCY8 1 82448 1.21289E-5 41224 0 NA
8-132051983-T-G p.Leu199Leu synonymous ADCY8 2 82516 2.42377E-5 41258 0 3.19061E-4
8-132051985-G-A p.Leu199Leu synonymous ADCY8 3 82516 3.63566E-5 41258 0 NA
8-132051986-G-A p.Val198Val synonymous ADCY8 7 82534 8.48135E-5 41267 0 5.03525E-4
8-132051986-G-C p.Val198Val synonymous ADCY8 2 82534 2.42324E-5 41267 0 NA
8-132051991-A-G p.Leu197Leu synonymous ADCY8 2 82694 2.41856E-5 41347 0 NA
8-132051996-G-A p.Thr195Ile missense ADCY8 1 82798 1.20776E-5 41399 0 1.65123E-5
8-132052007-C-T p.Leu191Leu synonymous ADCY8 3 82940 3.61707E-5 41470 0 3.58183E-5
8-132052012-C-G p.Val190Leu missense ADCY8 1 82990 1.20496E-5 41495 0 1.65134E-5
8-132052030-C-T p.Val184Met missense ADCY8 1 83160 1.2025E-5 41580 0 3.30213E-5
8-132052035-T-G p.Glu182Ala missense ADCY8 1 83178 1.20224E-5 41589 0 3.97735E-6
8-132052037-C-G p.Ser181Ser synonymous ADCY8 1 83198 1.20195E-5 41599 0 NA
8-132052041-T-G p.Lys180Thr missense ADCY8 1 83222 1.20161E-5 41611 0 8.25328E-6
8-132052045-G-A p.Arg179Cys missense ADCY8 4 83212 4.807E-5 41606 0 0.00100705
8-132052070-G-A p.Tyr170Tyr synonymous ADCY8 1 83192 1.20204E-5 41596 0 NA
8-132052084-A-G p.Leu166Leu synonymous ADCY8 1 83100 1.20337E-5 41550 0 NA
8-132052101-G-A p.Ser160Phe missense ADCY8 2 82960 2.4108E-5 41480 0 8.29504E-6
8-132052112-G-T p.Thr156Thr synonymous ADCY8 1 82754 1.2084E-5 41377 0 8.35673E-6
8-132052142-G-A p.Gly146Gly synonymous ADCY8 1 81978 1.21984E-5 40989 0 NA
8-132052145-C-T p.Gly145Gly synonymous ADCY8 1 81946 1.22032E-5 40973 0 4.01955E-6
8-132052153-G-T p.Leu143Ile missense ADCY8 1 81756 1.22315E-5 40878 0 NA
8-132052154-A-G p.Phe142Phe synonymous ADCY8 1 81716 1.22375E-5 40858 0 NA
8-132052156-A-T p.Phe142Ile missense ADCY8 1 81708 1.22387E-5 40854 0 NA
8-132052157-G-T p.Phe141Leu missense ADCY8 1 81648 1.22477E-5 40824 0 NA
8-132052172-AG-A p.Pro136fs frameshift ADCY8 1 81130 1.23259E-5 40565 0 NA
8-132052177-C-A p.Ala135Ser missense ADCY8 3 80996 3.70389E-5 40498 0 2.57685E-5
8-132052187-G-A p.His131His synonymous ADCY8 1 80732 1.23867E-5 40366 0 NA
8-132052189-G-T p.His131Asn missense ADCY8 1 80642 1.24005E-5 40321 0 1.71145E-5
8-132052196-G-A p.Gly128Gly synonymous ADCY8 2 80390 2.48787E-5 40195 0 NA
8-132052201-G-A p.Leu127Leu synonymous ADCY8 1 80260 1.24595E-5 40130 0 9.97297E-6
8-132052208-C-G p.Gly124Gly synonymous ADCY8 1 80272 1.24576E-5 40136 0 NA
8-132052210-C-A p.Gly124Trp missense ADCY8 2 80276 2.4914E-5 40138 0 5.03246E-6
8-132052211-G-A p.Gly123Gly synonymous ADCY8 1 80138 1.24785E-5 40069 0 NA
8-132052215-C-T p.Gly122Glu missense ADCY8 2 80256 2.49203E-5 40128 0 NA
8-132052217-G-A p.Ser121Ser synonymous ADCY8 1 80126 1.24803E-5 40063 0 NA
8-132052226-G-A p.Ala118Ala synonymous ADCY8 1 80150 1.24766E-5 40075 0 NA
8-132052227-G-C p.Ala118Gly missense ADCY8 1 80074 1.24884E-5 40037 0 0.0020284
8-132052230-C-T p.Ser117Asn missense ADCY8 2 80122 2.49619E-5 40061 0 NA
8-132052230-C-G p.Ser117Thr missense ADCY8 1 80122 1.2481E-5 40061 0 NA
8-132052234-C-A p.Gly116Cys missense ADCY8 4 80044 4.99725E-5 40022 0 7.14184E-5
8-132052235-G-A p.Ser115Ser synonymous ADCY8 2 79958 2.50131E-5 39979 0 3.18756E-5
8-132052236-C-T p.Ser115Asn missense ADCY8 7 79990 8.75109E-5 39995 0 1.85543E-4
8-132052241-G-T p.Ser113Arg missense ADCY8 1 79902 1.25153E-5 39951 0 NA
8-132052241-G-C p.Ser113Arg missense ADCY8 1 79902 1.25153E-5 39951 0 NA
8-132052245-C-A p.Arg112Leu missense ADCY8 1 79734 1.25417E-5 39867 0 NA
8-132052245-C-G p.Arg112Pro missense ADCY8 1 79734 1.25417E-5 39867 0 4.37713E-5
8-132052247-T-C p.Glu111Glu synonymous ADCY8 7 79694 8.7836E-5 39847 0 5.87592E-6
8-132052250-C-T p.Pro110Pro synonymous ADCY8 1 79592 1.25641E-5 39796 0 9.3791E-5
8-132052251-G-T p.Pro110Gln missense ADCY8 12 79552 1.50845E-4 39776 0 5.7365E-4
8-132052268-G-A p.Cys104Cys synonymous ADCY8 4 78610 5.08841E-5 39305 0 5.92066E-5
8-132052272-G-T p.Thr103Asn missense ADCY8 1 78508 1.27376E-5 39254 0 NA
8-132052282-C-T p.Ala100Thr missense ADCY8 18 77420 2.32498E-4 38710 0 3.50698E-4
8-132052284-C-T p.Arg99Gln missense ADCY8 2 77204 2.59054E-5 38602 0 7.04126E-5
8-132052290-C-A p.Gly97Val missense ADCY8 2 76598 2.61103E-5 38299 0 1.99402E-5
8-132052290-C-T p.Gly97Glu missense ADCY8 1 76598 1.30552E-5 38299 0 NA
8-132052292-C-T p.Pro96Pro synonymous ADCY8 2 76260 2.62261E-5 38130 0 NA
8-132052293-G-A p.Pro96Leu missense ADCY8 2 76166 2.62584E-5 38083 0 7.60341E-5
8-132052295-G-A p.Gly95Gly synonymous ADCY8 2 75732 2.64089E-5 37866 0 NA
8-132052302-G-A p.Ser93Leu missense ADCY8 1 74842 1.33615E-5 37421 0 3.18918E-5
8-132052305-T-A p.Tyr92Phe missense ADCY8 5 74408 6.71971E-5 37204 0 2.03622E-5
8-132052311-G-A p.Pro90Leu missense ADCY8 1 73320 1.36388E-5 36660 0 6.37471E-5
8-132052311-G-C p.Pro90Arg missense ADCY8 1 73320 1.36388E-5 36660 0 NA
8-132052320-G-A p.Ser87Leu missense ADCY8 2 71026 2.81587E-5 35513 0 3.18756E-5
8-132052324-C-T p.Asp86Asn missense ADCY8 1 70040 1.42776E-5 35020 0 NA
8-132052325-G-T p.Gly85Gly synonymous ADCY8 3 69286 4.32988E-5 34643 0 7.34063E-6
8-132052325-G-A p.Gly85Gly synonymous ADCY8 2 69286 2.88659E-5 34643 0 NA
8-132052329-GACAGCT-G p.Gln82_Ser84delinsPro disruptive_inframe_deletion ADCY8 1 69026 1.44873E-5 34513 0 NA
8-132052333-G-C p.Leu83Val missense ADCY8 2 67912 2.94499E-5 33956 0 1.04341E-4
8-132052337-C-A p.Pro81Pro synonymous ADCY8 6 66858 8.97424E-5 33429 0 5.39474E-5
8-132052337-C-T p.Pro81Pro synonymous ADCY8 1 66858 1.49571E-5 33429 0 NA
8-132052338-G-A p.Pro81Leu missense ADCY8 1 66686 1.49957E-5 33343 0 1.55688E-5
8-132052340-C-A p.Ala80Ala synonymous ADCY8 1 66092 1.51304E-5 33046 0 6.55594E-4
8-132052342-C-T p.Ala80Thr missense ADCY8 2146 65306 0.0328607 32653 41 0.0734119
8-132052342-C-G p.Ala80Pro missense ADCY8 1 65482 1.52714E-5 32741 0 3.18817E-5
8-132052352-G-T p.Pro76Pro synonymous ADCY8 4 64872 6.16599E-5 32436 0 6.37552E-5
8-132052361-G-C p.Gly73Gly synonymous ADCY8 2 63444 3.15239E-5 31722 0 NA
8-132052362-C-T p.Gly73Asp missense ADCY8 1 63850 1.56617E-5 31925 0 8.04259E-6
8-132052365-G-T p.Ala72Glu missense ADCY8 2 63664 3.14149E-5 31832 0 1.27502E-4
8-132052369-G-C p.Pro71Ala missense ADCY8 8 63704 1.25581E-4 31852 0 4.14329E-4
8-132052369-G-T p.Pro71Thr missense ADCY8 1 63706 1.56971E-5 31853 0 NA
8-132052371-T-C p.Asp70Gly missense ADCY8 1 63498 1.57485E-5 31749 0 NA
8-132052376-G-T p.Ala68Ala synonymous ADCY8 5 63424 7.88345E-5 31712 0 0.00107411
8-132052383-C-T p.Gly66Asp missense ADCY8 1 63092 1.58499E-5 31546 0 NA
8-132052383-C-A p.Gly66Val missense ADCY8 1 63092 1.58499E-5 31546 0 NA
8-132052385-C-A p.Ser65Ser synonymous ADCY8 12 62838 1.90967E-4 31419 0 0.00117046
8-132052394-A-C p.Ser62Arg missense ADCY8 1 63404 1.57719E-5 31702 0 NA
8-132052400-G-T p.Ser60Arg missense ADCY8 58 63246 9.17054E-4 31623 0 0.00239036
8-132052407-C-T p.Ser58Asn missense ADCY8 1 63458 1.57585E-5 31729 0 3.18613E-5
8-132052418-G-A p.His54His synonymous ADCY8 2 63798 3.13489E-5 31899 0 3.18756E-5
8-132052423-C-G p.Gly53Arg missense ADCY8 1 63848 1.56622E-5 31924 0 8.91424E-5
8-132052424-G-A p.His52His synonymous ADCY8 1 64090 1.56031E-5 32045 0 3.18776E-5
8-132052427-AA-CC p.Ile51Arg missense ADCY8 1 64320 1.55473E-5 32160 0 NA
8-132052431-AA-CC p.Phe50Gly missense ADCY8 1 64476 1.55096E-5 32238 0 NA
8-132052442-C-G p.Thr46Thr synonymous ADCY8 2 64796 3.08661E-5 32398 0 2.24125E-5
8-132052448-G-C p.His44Gln missense ADCY8 1 65388 1.52933E-5 32694 0 NA
8-132052450-G-T p.His44Asn missense ADCY8 1 65502 1.52667E-5 32751 0 6.95894E-4
8-132052457-C-T p.Ala41Ala synonymous ADCY8 242 65476 0.00369601 32738 1 0.00522081
8-132052460-C-T p.Thr40Thr synonymous ADCY8 1 66006 1.51501E-5 33003 0 6.37714E-5
8-132052460-C-G p.Thr40Thr synonymous ADCY8 1 66006 1.51501E-5 33003 0 NA
8-132052475-C-A p.Arg35Arg synonymous ADCY8 1 67274 1.48646E-5 33637 0 6.37714E-5
8-132052477-G-A p.Arg35Trp missense ADCY8 1 67304 1.4858E-5 33652 0 NA
8-132052478-C-T p.Gln34Gln synonymous ADCY8 2 67466 2.96446E-5 33733 0 NA
8-132052481-C-A p.Pro33Pro synonymous ADCY8 7 67422 1.03824E-4 33711 0 5.7376E-4
8-132052482-G-A p.Pro33Leu missense ADCY8 2 67690 2.95465E-5 33845 0 0.00209205
8-132052492-C-A p.Ala30Ser missense ADCY8 4 67174 5.95468E-5 33587 0 2.23048E-4
8-132052493-G-C p.Ser29Arg missense ADCY8 21 67466 3.11268E-4 33733 0 4.78286E-4
8-132052496-C-T p.Arg28Arg synonymous ADCY8 2 67794 2.95011E-5 33897 0 7.21605E-5
8-132052496-C-G p.Arg28Ser missense ADCY8 1 67794 1.47506E-5 33897 0 NA
8-132052501-C-G p.Gly27Arg missense ADCY8 6 67758 8.85504E-5 33879 0 5.63142E-4
8-132052501-C-A p.Gly27Cys missense ADCY8 1 67760 1.4758E-5 33880 0 NA
8-132052506-C-T p.Gly25Asp missense ADCY8 11 67938 1.61912E-4 33969 0 1.33708E-4
8-132052507-C-T p.Gly25Ser missense ADCY8 7 68100 1.0279E-4 34050 0 4.08163E-4
8-132052512-G-A p.Pro23Leu missense ADCY8 5 68502 7.29906E-5 34251 0 6.77006E-4
8-132052516-G-A p.Pro22Ser missense ADCY8 4 68888 5.80653E-5 34444 0 1.12994E-4
8-132052526-G-T p.Ile18Ile synonymous ADCY8 1 70982 1.40881E-5 35491 0 5.03311E-5
8-132052528-T-C p.Ile18Val missense ADCY8 1 71234 1.40382E-5 35617 0 4.74158E-5
8-132052530-G-C p.Thr17Ser missense ADCY8 8 71778 1.11455E-4 35889 0 4.63478E-5
8-132052538-T-C p.Glu14Glu synonymous ADCY8 1 72900 1.37174E-5 36450 0 NA
8-132052565-A-T p.Asp5Glu missense ADCY8 2 76008 2.6313E-5 38004 0 6.0326E-6
8-132052578-A-G p.Met1? start_lost ADCY8 1 76800 1.30208E-5 38400 0 NA
8-132052594-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain ADCY8 1 76226 1.31189E-5 38113 0 8.04972E-6
8-132052608-G-A c.-29C>T 5_prime_UTR_premature_start_codon_gain ADCY8 1 76206 1.31223E-5 38103 0 1.71139E-5
8-132052626-C-A c.-47G>T 5_prime_UTR_premature_start_codon_gain ADCY8 2 75104 2.66297E-5 37552 0 NA
8-132052820-G-A c.-241C>T 5_prime_UTR_premature_start_codon_gain ADCY8 184 18930 0.00972002 9465 0 0.0158022
8-132052925-T-C c.-346A>G 5_prime_UTR_premature_start_codon_gain ADCY8 4 5268 7.59301E-4 2634 0 0.0037594
8-132054031-G-A c.-1452C>T 5_prime_UTR_premature_start_codon_gain ADCY8 1 148 0.00675676 74 0 0.00200957
8-132054152-G-A c.-1573C>T 5_prime_UTR_premature_start_codon_gain ADCY8 55 150 0.366667 75 10 0.455254
8-132054516-G-A c.-1937C>T 5_prime_UTR_premature_start_codon_gain ADCY8 1 154 0.00649351 77 0 0.0196241