Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-15465732-T-C p.Thr691Thr synonymous AKAP8 3 81902 3.66291E-5 40951 0 7.96039E-6
19-15465740-C-T p.Val689Ile missense AKAP8 10 81996 1.21957E-4 40998 0 1.27348E-4
19-15465741-A-G p.Ala688Ala synonymous AKAP8 1 82020 1.21921E-5 41010 0 3.97915E-6
19-15465744-G-A p.Asp687Asp synonymous AKAP8 4 82060 4.87448E-5 41030 0 8.75315E-5
19-15465767-G-C p.Gln680Glu missense AKAP8 1 82268 1.21554E-5 41134 0 NA
19-15465768-T-C p.Glu679Glu synonymous AKAP8 3 82260 3.64697E-5 41130 0 3.97738E-6
19-15465785-C-T p.Ala674Thr missense AKAP8 1 82378 1.21392E-5 41189 0 1.27364E-4
19-15465786-G-A p.Ala673Ala synonymous AKAP8 7 82394 8.49576E-5 41197 0 4.94592E-5
19-15465793-G-A p.Pro671Leu missense AKAP8 1 82460 1.21271E-5 41230 0 8.24348E-6
19-15465793-G-T p.Pro671Gln missense AKAP8 1 82460 1.21271E-5 41230 0 NA
19-15465808-C-T p.Arg666Lys missense AKAP8 17 82564 2.05901E-4 41282 1 5.03525E-4
19-15465810-G-A p.Thr665Thr synonymous AKAP8 1 82600 1.21065E-5 41300 0 1.64845E-5
19-15465827-C-T p.Ala660Thr missense AKAP8 6 82636 7.26076E-5 41318 0 3.1841E-5
19-15465830-C-G p.Glu659Gln missense AKAP8 3 82642 3.63012E-5 41321 0 3.97766E-6
19-15465833-C-A p.Ala658Ser missense AKAP8 1 82660 1.20978E-5 41330 0 NA
19-15465833-C-T p.Ala658Thr missense AKAP8 1 82660 1.20978E-5 41330 0 8.24307E-6
19-15465843-C-T p.Glu654Glu synonymous AKAP8 8 82730 9.67001E-5 41365 0 2.26719E-4
19-15465845-C-T p.Glu654Lys missense AKAP8 5 82724 6.0442E-5 41362 0 3.18221E-5
19-15465846-G-T p.Ala653Ala synonymous AKAP8 1 82712 1.20901E-5 41356 0 NA
19-15465846-G-A p.Ala653Ala synonymous AKAP8 2 82712 2.41803E-5 41356 0 4.12154E-5
19-15465848-C-T p.Ala653Thr missense AKAP8 8 82686 9.67516E-5 41343 0 5.03525E-4
19-15465860-C-T p.Ala649Thr missense AKAP8 1 82770 1.20817E-5 41385 0 NA
19-15465890-C-T p.Val639Ile missense AKAP8 3 82638 3.63029E-5 41319 0 9.07022E-5
19-15465891-G-A p.Gly638Gly synonymous AKAP8 2 82612 2.42096E-5 41306 0 1.59224E-5
19-15465893-C-T p.Gly638Ser missense AKAP8 1 82652 1.20989E-5 41326 0 NA
19-15465901-T-C p.His635Arg missense AKAP8 4 82590 4.8432E-5 41295 0 NA
19-15465903-T-G p.Ala634Ala synonymous AKAP8 1 82572 1.21106E-5 41286 0 NA
19-15465906-C-T p.Thr633Thr synonymous AKAP8 3 82556 3.6339E-5 41278 0 8.24878E-6
19-15465907-G-C p.Thr633Arg missense AKAP8 1 82552 1.21136E-5 41276 0 3.98162E-6
19-15465939-T-C p.Glu622Glu synonymous AKAP8 1 82276 1.21542E-5 41138 0 NA
19-15465941-C-T p.Glu622Lys missense AKAP8 1 82278 1.21539E-5 41139 0 1.65265E-5
19-15465945-T-C p.Gln620Gln synonymous AKAP8 1 82262 1.21563E-5 41131 0 7.97143E-6
19-15465948-A-G p.Pro619Pro synonymous AKAP8 1 82216 1.21631E-5 41108 0 1.99338E-5
19-15465959-C-T p.Gly616Ser missense AKAP8 4 82150 4.86914E-5 41075 0 9.18259E-5
19-15465960-G-A p.Ala615Ala synonymous AKAP8 89 82148 0.00108341 41074 0 0.00501989
19-15465966-C-T p.Ala613Ala synonymous AKAP8 1 82244 1.21589E-5 41122 0 6.25E-4
19-15465975-C-T p.Thr610Thr synonymous AKAP8 2 82260 2.43132E-5 41130 0 5.03525E-4
19-15465976-G-A p.Thr610Met missense AKAP8 170 82238 0.00206717 41119 0 0.00137959
19-15465980-G-A p.Pro609Ser missense AKAP8 5 82266 6.07784E-5 41133 0 1.91205E-4
19-15465987-GTCC-G p.Glu605del disruptive_inframe_deletion AKAP8 1 82284 1.2153E-5 41142 0 NA
19-15465996-C-T p.Pro603Pro synonymous AKAP8 2 82300 2.43013E-5 41150 0 1.6632E-5
19-15465996-C-A p.Pro603Pro synonymous AKAP8 1 82300 1.21507E-5 41150 0 2.4948E-5
19-15465998-G-A p.Pro603Ser missense AKAP8 1 82268 1.21554E-5 41134 0 3.18735E-5
19-15466004-C-T p.Gly601Arg missense AKAP8 7 82442 8.49082E-5 41221 0 6.25E-4
19-15466009-C-T p.Ser599Asn missense AKAP8 1 82504 1.21206E-5 41252 0 NA
19-15466014-T-C p.Pro597Pro synonymous AKAP8 8 82486 9.69862E-5 41243 1 0.00453172
19-15466019-C-T p.Ala596Thr missense AKAP8 4 82452 4.85131E-5 41226 0 4.99534E-5
19-15466022-G-C p.Pro595Ala missense AKAP8 1 82456 1.21277E-5 41228 0 NA
19-15466023-C-T p.Ala594Ala synonymous AKAP8 1 82428 1.21318E-5 41214 0 3.32817E-5
19-15466031-C-T p.Glu592Lys missense AKAP8 2 82532 2.4233E-5 41266 0 NA
19-15466040-C-T p.Val589Ile missense AKAP8 12 82506 1.45444E-4 41253 0 4.98886E-5
19-15466044-C-T p.Arg587Arg synonymous AKAP8 1 82504 1.21206E-5 41252 0 4.00834E-6
19-15466059-A-C p.Ile582Met missense AKAP8 1 82504 1.21206E-5 41252 0 3.32375E-5
19-15466063-A-G p.Val581Ala missense AKAP8 7 82430 8.49205E-5 41215 0 6.3955E-5
19-15466076-C-T p.Val577Ile missense AKAP8 1 82426 1.21321E-5 41213 0 8.31546E-6
19-15466080-C-T p.Ala575Ala synonymous AKAP8 1 82332 1.21459E-5 41166 0 3.32546E-5
19-15466080-C-G p.Ala575Ala synonymous AKAP8 2 82332 2.42919E-5 41166 0 8.31366E-6
19-15466081-G-A p.Ala575Val missense AKAP8 1 82282 1.21533E-5 41141 0 1.66315E-5
19-15466083-G-A p.Ala574Ala synonymous AKAP8 2 82258 2.43137E-5 41129 0 1.5991E-5
19-15466086-C-T p.Val573Val synonymous AKAP8 1 82270 1.21551E-5 41135 0 NA
19-15466090-T-A p.Glu572Val missense AKAP8 2 82296 2.43025E-5 41148 0 NA
19-15466097-G-T p.Pro570Thr missense AKAP8 2 82312 2.42978E-5 41156 0 8.31546E-6
19-15466099-GTC-G p.Glu568fs frameshift AKAP8 1 82322 1.21474E-5 41161 0 NA
19-15466116-A-G p.Gly563Gly synonymous AKAP8 1 82108 1.21791E-5 41054 0 NA
19-15466119-T-C p.Gly562Gly synonymous AKAP8 1 82128 1.21761E-5 41064 0 8.3275E-6
19-15466126-T-C p.Asn560Ser missense AKAP8 1 82092 1.21815E-5 41046 0 NA
19-15466132-T-A p.Asp558Val missense AKAP8 2 81974 2.4398E-5 40987 0 NA
19-15466152-AAC-A p.Val551fs frameshift AKAP8 1 81610 1.22534E-5 40805 0 4.0235E-6
19-15466167-G-A p.Phe546Phe synonymous AKAP8 4 81198 4.92623E-5 40599 0 7.60765E-5
19-15466173-G-A p.Asp544Asp synonymous AKAP8 27 80958 3.33506E-4 40479 1 2.71216E-4
19-15466179-A-G p.Gly542Gly splice_region+synonymous AKAP8 1 80618 1.24042E-5 40309 0 3.42431E-5
19-15469771-C-T c.1623+7G>A splice_region AKAP8 4 83234 4.80573E-5 41617 0 9.55231E-5
19-15469786-A-G p.Tyr539His missense AKAP8 1 83290 1.20062E-5 41645 0 NA
19-15469793-C-T p.Leu536Leu synonymous AKAP8 1 83296 1.20054E-5 41648 0 8.23696E-6
19-15469803-A-G p.Val533Ala missense AKAP8 1 83318 1.20022E-5 41659 0 8.23669E-6
19-15469807-T-C p.Ile532Val missense AKAP8 2 83316 2.4005E-5 41658 0 NA
19-15469838-A-G p.His521His synonymous AKAP8 1 83322 1.20016E-5 41661 0 3.97636E-6
19-15469859-C-T p.Gln514Gln synonymous AKAP8 2 83306 2.40079E-5 41653 0 8.23655E-6
19-15469871-C-T p.Leu510Leu splice_region+synonymous AKAP8 3 83286 3.60205E-5 41643 0 4.9425E-5
19-15469871-C-A p.Leu510Phe missense+splice_region AKAP8 2 83286 2.40136E-5 41643 0 8.2375E-6
19-15471652-G-GACTC c.1527+6_1527+7insGAGT splice_region AKAP8 2 82642 2.42008E-5 41321 0 NA
19-15471672-T-C p.Asn505Ser missense AKAP8 3 82688 3.6281E-5 41344 0 3.18512E-5
19-15471673-T-C p.Asn505Asp missense AKAP8 104 82686 0.00125777 41343 0 0.001875
19-15471682-C-T p.Val502Met missense AKAP8 5 82690 6.04668E-5 41345 0 4.00676E-5
19-15471683-G-A p.Ser501Ser synonymous AKAP8 7 82688 8.46556E-5 41344 0 6.36983E-5
19-15471696-C-T p.Arg497Gln missense AKAP8 1 82690 1.20934E-5 41345 0 6.37024E-5
19-15471703-G-A p.Leu495Phe missense AKAP8 13 82732 1.57134E-4 41366 0 6.36983E-5
19-15471710-C-T p.Pro492Pro synonymous AKAP8 1 82684 1.20942E-5 41342 0 0.00100908
19-15471711-G-A p.Pro492Leu missense AKAP8 2 82710 2.41809E-5 41355 0 4.26388E-5
19-15471714-T-C p.Gln491Arg missense AKAP8 1 82686 1.20939E-5 41343 0 6.25E-4
19-15471729-A-G p.Met486Thr missense AKAP8 10 82698 1.20922E-4 41349 0 1.15835E-4
19-15471734-G-A p.Cys484Cys synonymous AKAP8 2 82672 2.4192E-5 41336 0 5.59875E-5
19-15471742-G-A p.Leu482Leu synonymous AKAP8 5 82714 6.04493E-5 41357 0 2.53966E-5
19-15471758-G-T p.Ile476Ile synonymous AKAP8 39 82714 4.71504E-4 41357 0 0.00251762
19-15471758-G-C p.Ile476Met missense AKAP8 1 82716 1.20896E-5 41358 0 1.69016E-5
19-15471758-G-A p.Ile476Ile synonymous AKAP8 1 82716 1.20896E-5 41358 0 8.4508E-6
19-15471781-G-A p.Gln469* stop_gained AKAP8 1 82662 1.20975E-5 41331 0 NA
19-15471788-C-A p.Gly466Gly splice_region+synonymous AKAP8 4 82610 4.84203E-5 41305 0 4.22697E-5
19-15471789-C-T p.Gly466Glu missense+splice_region AKAP8 2 82612 2.42096E-5 41306 0 1.6909E-4
19-15472284-C-A n.1350G>T splice_region AKAP8 1 20260 4.93583E-5 10130 0 NA
19-15472533-A-C c.1396+7T>G splice_region AKAP8 1 83258 1.20109E-5 41629 0 3.97735E-6
19-15472544-G-C p.Phe464Leu missense AKAP8 1 83298 1.20051E-5 41649 0 3.97706E-6
19-15472554-G-A p.Pro461Leu missense AKAP8 5 83318 6.0011E-5 41659 0 6.37105E-5
19-15472560-G-A p.Pro459Leu missense AKAP8 2 83334 2.39998E-5 41667 0 3.18756E-5
19-15472561-G-T p.Pro459Thr missense AKAP8 83 83330 9.9604E-4 41665 0 0.00232662
19-15472565-T-C p.Ala457Ala synonymous AKAP8 1 83328 1.20008E-5 41664 0 NA
19-15472567-C-T p.Ala457Thr missense AKAP8 1 83324 1.20013E-5 41662 0 1.6478E-5
19-15472575-T-C p.Lys454Arg missense AKAP8 3 83330 3.60014E-5 41665 0 NA
19-15472593-C-T p.Arg448His missense AKAP8 2 83320 2.40038E-5 41660 0 8.2394E-6
19-15472594-G-A p.Arg448Cys missense AKAP8 1 83314 1.20028E-5 41657 0 3.18512E-5
19-15472596-C-T p.Arg447Gln missense AKAP8 6 83314 7.20167E-5 41657 0 3.18431E-5
19-15472935-C-T p.Val430Met missense AKAP8 2 83164 2.40489E-5 41582 0 8.25273E-6
19-15472939-C-T p.Lys428Lys synonymous AKAP8 3 83196 3.60594E-5 41598 0 NA
19-15472944-C-T p.Asp427Asn missense AKAP8 54 83226 6.48836E-4 41613 1 0.00117849
19-15472945-G-A p.Pro426Pro synonymous AKAP8 5 83246 6.00629E-5 41623 0 9.15233E-5
19-15472957-G-C p.Ser422Arg missense AKAP8 3 83310 3.60101E-5 41655 0 NA
19-15472968-G-A p.Arg419Trp missense AKAP8 1 83340 1.1999E-5 41670 0 2.473E-5
19-15472971-G-C p.Leu418Val missense AKAP8 1 83354 1.1997E-5 41677 0 6.37105E-5
19-15472979-T-C p.Lys415Arg missense AKAP8 1 83364 1.19956E-5 41682 0 NA
19-15473003-T-C p.Lys407Arg missense AKAP8 121 83348 0.00145174 41674 1 0.00324986
19-15473006-T-C p.Gln406Arg missense AKAP8 4 83348 4.79916E-5 41674 0 1.15367E-4
19-15473008-G-T p.Ile405Ile synonymous AKAP8 2 83342 2.39975E-5 41671 0 NA
19-15473014-T-G p.Glu403Asp missense AKAP8 1 83358 1.19964E-5 41679 0 NA
19-15473014-T-C p.Glu403Glu synonymous AKAP8 1 83358 1.19964E-5 41679 0 NA
19-15473016-C-T p.Glu403Lys missense AKAP8 4 83352 4.79893E-5 41676 0 2.38624E-5
19-15473017-G-A p.Asp402Asp synonymous AKAP8 1 83344 1.19985E-5 41672 0 3.18674E-5
19-15473035-C-T p.Lys396Lys synonymous AKAP8 1 83356 1.19967E-5 41678 0 2.473E-5
19-15473041-T-C p.Val394Val synonymous AKAP8 2 83352 2.39946E-5 41676 0 3.97776E-6
19-15473041-T-A p.Val394Val synonymous AKAP8 1 83352 1.19973E-5 41676 0 8.24484E-6
19-15473043-C-T p.Val394Ile missense AKAP8 1 83352 1.19973E-5 41676 0 NA
19-15473045-G-C p.Ser393Cys missense AKAP8 1 83346 1.19982E-5 41673 0 7.95665E-6
19-15473050-G-A p.Ala391Ala synonymous AKAP8 210 83328 0.00252016 41664 2 0.00573468
19-15473050-G-C p.Ala391Ala synonymous AKAP8 2 83332 2.40004E-5 41666 0 3.9788E-6
19-15473056-C-G p.Gln389His missense AKAP8 1 83328 1.20008E-5 41664 0 NA
19-15473057-T-G p.Gln389Pro missense AKAP8 1 83322 1.20016E-5 41661 0 NA
19-15473066-T-C c.1161-4A>G splice_region AKAP8 3 83262 3.60308E-5 41631 0 3.18776E-5
19-15473067-A-G c.1161-5T>C splice_region AKAP8 1 83270 1.20091E-5 41635 0 8.26105E-6
19-15479038-C-T c.1160+8G>A splice_region AKAP8 19 79610 2.38663E-4 39805 1 0.003125
19-15479039-G-A c.1160+7C>T splice_region AKAP8 62 79614 7.78758E-4 39807 0 7.48406E-4
19-15479040-C-T c.1160+6G>A splice_region AKAP8 5 79658 6.27683E-5 39829 0 2.5048E-5
19-15479040-C-G c.1160+6G>C splice_region AKAP8 1 79658 1.25537E-5 39829 0 3.33973E-5
19-15479050-C-T p.Asp386Asn missense AKAP8 2 79742 2.50809E-5 39871 0 4.05245E-6
19-15479058-CG-C p.Arg383fs frameshift AKAP8 1 79850 1.25235E-5 39925 0 8.31006E-6
19-15479058-C-T p.Arg383His missense AKAP8 2 79850 2.5047E-5 39925 0 3.23444E-5
19-15479059-G-A p.Arg383Cys missense AKAP8 1 79848 1.25238E-5 39924 0 8.30648E-6
19-15479063-CCG-C p.Arg381fs frameshift AKAP8 1 79946 1.25084E-5 39973 0 8.29683E-6
19-15479063-C-T p.Arg381Arg synonymous AKAP8 1 79946 1.25084E-5 39973 0 NA
19-15479066-C-T p.Thr380Thr synonymous AKAP8 5 79982 6.25141E-5 39991 0 6.63064E-5
19-15479067-G-A p.Thr380Met missense AKAP8 1 80000 1.25E-5 40000 0 6.37633E-5
19-15479093-C-T p.Arg371Arg synonymous AKAP8 1 80188 1.24707E-5 40094 0 NA
19-15479094-C-G p.Arg371Thr missense AKAP8 3 80184 3.74139E-5 40092 0 1.64938E-5
19-15479102-C-T p.Lys368Lys synonymous AKAP8 454 80168 0.00566311 40084 5 0.01125
19-15479105-C-T p.Val367Val synonymous AKAP8 4 80174 4.98915E-5 40087 0 3.18552E-5
19-15479107-C-T p.Val367Met missense AKAP8 1 80176 1.24726E-5 40088 0 NA
19-15479108-ATCCTCG-A p.Glu365_Asp366del disruptive_inframe_deletion AKAP8 10 80190 1.24704E-4 40095 0 3.19101E-5
19-15479108-A-ATCCTCG p.Asp366_Val367insGluAsp disruptive_inframe_insertion AKAP8 2 80190 2.49408E-5 40095 0 9.57304E-5
19-15479109-T-C p.Asp366Gly missense AKAP8 2 80184 2.49426E-5 40092 0 NA
19-15479114-G-A p.Asp364Asp synonymous AKAP8 25 80166 3.11853E-4 40083 2 5.18135E-4
19-15479119-C-T p.Glu363Lys missense AKAP8 1 80190 1.24704E-5 40095 0 8.24117E-6
19-15479120-G-A p.Asp362Asp synonymous AKAP8 3 80166 3.74223E-5 40083 0 5.76872E-5
19-15479123-C-G p.Glu361Asp missense AKAP8 2 80188 2.49414E-5 40094 0 4.02004E-6
19-15479128-T-C p.Lys360Glu missense AKAP8 6 80192 7.48204E-5 40096 0 1.27445E-4
19-15479138-A-G c.1073-5T>C splice_region AKAP8 1 80170 1.24735E-5 40085 0 6.03131E-5
19-15479141-A-G c.1073-8T>C splice_region AKAP8 4 80160 4.99002E-5 40080 0 9.56633E-5
19-15480950-T-G c.1072+7A>C splice_region AKAP8 99 83170 0.00119033 41585 2 0.00400926
19-15480961-T-C p.Gln356Gln synonymous AKAP8 1 83192 1.20204E-5 41596 0 NA
19-15480964-C-T p.Arg355Arg synonymous AKAP8 4 83196 4.80792E-5 41598 0 6.25E-4
19-15480965-C-T p.Arg355Lys missense AKAP8 3 83200 3.60577E-5 41600 0 3.18552E-5
19-15480972-A-T p.Ser353Thr missense AKAP8 14 83190 1.68289E-4 41595 0 6.76202E-5
19-15480976-G-A p.Cys351Cys synonymous AKAP8 2 83192 2.40408E-5 41596 0 5.03525E-4
19-15480978-A-C p.Cys351Gly missense AKAP8 1 83188 1.2021E-5 41594 0 NA
19-15480979-G-A p.Leu350Leu synonymous AKAP8 58 83188 6.97216E-4 41594 0 0.00233098
19-15480981-G-A p.Leu350Phe missense AKAP8 754 83166 0.0090662 41583 25 0.0198559
19-15480986-T-C p.Asp348Gly missense AKAP8 2 83182 2.40437E-5 41591 0 8.26282E-6
19-15480990-C-T p.Glu347Lys missense+splice_region AKAP8 10 83174 1.2023E-4 41587 0 1.59266E-4
19-15480994-GA-G c.1039-5delT splice_region AKAP8 6 83148 7.21605E-5 41574 0 6.37146E-5
19-15482768-T-G p.Lys345Gln missense AKAP8 1 83284 1.20071E-5 41642 0 NA
19-15482782-C-T p.Gly340Glu missense AKAP8 1 83288 1.20065E-5 41644 0 3.18512E-5
19-15482788-C-T p.Arg338His missense AKAP8 3 83280 3.60231E-5 41640 0 1.91453E-4
19-15482789-G-A p.Arg338Cys missense AKAP8 3 83290 3.60187E-5 41645 0 1.59138E-5
19-15482798-C-T p.Gly335Ser missense AKAP8 1 83300 1.20048E-5 41650 0 NA
19-15482802-T-C p.Ala333Ala synonymous AKAP8 4 83284 4.80284E-5 41642 0 1.98905E-5
19-15482804-C-T p.Ala333Thr missense AKAP8 1 83282 1.20074E-5 41641 0 NA
19-15482805-G-A p.Asp332Asp synonymous AKAP8 3 83284 3.60213E-5 41642 0 7.55864E-5
19-15482815-A-G c.992-6T>C splice_region AKAP8 3 83266 3.60291E-5 41633 0 NA
19-15483024-C-T c.991+5G>A splice_region AKAP8 1 83306 1.20039E-5 41653 0 NA
19-15483027-A-G c.991+2T>C splice_donor AKAP8 1 83326 1.20011E-5 41663 0 NA
19-15483032-T-A p.Asn330Tyr missense AKAP8 2 83346 2.39964E-5 41673 0 NA
19-15483039-G-A p.Phe327Phe synonymous AKAP8 1 83342 1.19988E-5 41671 0 1.19288E-5
19-15483053-T-C p.Ser323Gly missense AKAP8 1 83366 1.19953E-5 41683 0 5.03525E-4
19-15483054-G-A p.Asp322Asp synonymous AKAP8 1 83372 1.19944E-5 41686 0 3.18431E-5
19-15483057-A-T p.Val321Val synonymous AKAP8 18 83368 2.1591E-4 41684 0 0.00100705
19-15483058-A-G p.Val321Ala missense AKAP8 9 83368 1.07955E-4 41684 0 6.37105E-5
19-15483059-C-T p.Val321Ile missense AKAP8 2 83362 2.39917E-5 41681 0 1.19296E-5
19-15483061-C-T p.Arg320Gln missense AKAP8 44 83362 5.27818E-4 41681 1 0.004375
19-15483061-C-A p.Arg320Leu missense AKAP8 3 83362 3.59876E-5 41681 0 1.89481E-4
19-15483062-G-A p.Arg320Trp missense AKAP8 1 83368 1.1995E-5 41684 0 5.7672E-5
19-15483075-G-A p.Asp315Asp synonymous AKAP8 1 83370 1.19947E-5 41685 0 7.9533E-6
19-15483076-T-C p.Asp315Gly missense AKAP8 2 83370 2.39894E-5 41685 0 6.3678E-5
19-15483083-C-T p.Glu313Lys missense AKAP8 3 83370 3.59842E-5 41685 0 8.2394E-6
19-15483086-C-G p.Glu312Gln missense AKAP8 1 83364 1.19956E-5 41682 0 3.18492E-5
19-15483089-A-G p.Tyr311His missense AKAP8 1 83366 1.19953E-5 41683 0 NA
19-15483107-G-A p.Arg305Trp missense AKAP8 3 83360 3.59885E-5 41680 0 5.03525E-4
19-15483113-T-G p.Arg303Arg synonymous AKAP8 2 83356 2.39935E-5 41678 0 3.1839E-5
19-15483117-C-T p.Thr301Thr synonymous AKAP8 1 83352 1.19973E-5 41676 0 4.3748E-5
19-15483117-C-A p.Thr301Thr synonymous AKAP8 1 83352 1.19973E-5 41676 0 NA
19-15483118-G-A p.Thr301Met missense AKAP8 2 83354 2.3994E-5 41677 0 6.25E-4
19-15483126-T-C p.Pro298Pro synonymous AKAP8 216 83336 0.00259192 41668 0 0.00229082
19-15483128-G-T p.Pro298Thr missense AKAP8 1 83338 1.19993E-5 41669 0 NA
19-15483132-G-A p.Phe296Phe synonymous AKAP8 7 83334 8.39993E-5 41667 0 9.55536E-5
19-15483136-C-T p.Arg295His missense AKAP8 1 83322 1.20016E-5 41661 0 3.30158E-5
19-15483137-G-A p.Arg295Cys missense AKAP8 440 83306 0.00528173 41653 3 0.00681702
19-15483137-G-C p.Arg295Gly missense AKAP8 1 83314 1.20028E-5 41657 0 3.97826E-6
19-15483163-A-G c.862-5T>C splice_region AKAP8 9 83254 1.08103E-4 41627 0 2.22916E-4
19-15483163-AGAC-A c.862-8_862-6delGTC splice_region AKAP8 1 83254 1.20114E-5 41627 0 3.18451E-5
19-15483164-G-A c.862-6C>T splice_region AKAP8 1 83252 1.20117E-5 41626 0 NA
19-15483660-A-ACCCGAT c.861+1_861+2insATCGGG splice_donor AKAP8 3 81642 3.67458E-5 40821 0 1.19642E-5
19-15483663-C-T p.Arg287Gln missense+splice_region AKAP8 1 81606 1.2254E-5 40803 0 9.55718E-5
19-15483669-C-T p.Arg285Gln missense AKAP8 2 81510 2.45369E-5 40755 0 9.63502E-6
19-15483670-G-A p.Arg285Trp missense AKAP8 8 81498 9.81619E-5 40749 0 6.37308E-5
19-15483671-ATCCCGC-A p.Met282_Asp284delinsIle disruptive_inframe_deletion AKAP8 2 81504 2.45387E-5 40752 0 9.64097E-6
19-15483672-T-A p.Asp284Val missense AKAP8 1 81494 1.22708E-5 40747 0 9.6432E-6
19-15483673-C-A p.Asp284Tyr missense AKAP8 4 81516 4.90701E-5 40758 0 3.59958E-5
19-15483675-C-T p.Arg283Gln missense AKAP8 15 81472 1.84112E-4 40736 0 5.04541E-4
19-15483675-C-A p.Arg283Leu missense AKAP8 1 81472 1.22742E-5 40736 0 6.37227E-5
19-15483680-C-T p.Arg281Arg synonymous AKAP8 1 81420 1.2282E-5 40710 0 1.20143E-5
19-15483681-C-T p.Arg281Gln missense AKAP8 2 81392 2.45724E-5 40696 0 1.80812E-5
19-15483682-G-A p.Arg281Trp missense AKAP8 2 81392 2.45724E-5 40696 0 6.37105E-5
19-15483682-G-T p.Arg281Arg synonymous AKAP8 1 81392 1.22862E-5 40696 0 9.74184E-6
19-15483686-C-G p.Gln279His missense AKAP8 5 81344 6.14673E-5 40672 0 NA
19-15483689-C-T p.Ser278Ser synonymous AKAP8 2 81278 2.46069E-5 40639 0 3.18695E-5
19-15483694-G-A p.Arg277Cys missense AKAP8 1 81442 1.22787E-5 40721 0 4.20365E-5
19-15483695-G-A p.Gly276Gly synonymous AKAP8 1 81456 1.22766E-5 40728 0 3.18674E-5
19-15483703-C-T p.Gly274Arg missense AKAP8 3 81628 3.67521E-5 40814 0 8.90137E-5
19-15483704-G-A p.Tyr273Tyr synonymous AKAP8 23 81604 2.81849E-4 40802 0 0.00100806
19-15483710-C-T p.Met271Ile missense AKAP8 1 81692 1.22411E-5 40846 0 NA
19-15483712-T-C p.Met271Val missense AKAP8 1 81726 1.2236E-5 40863 0 NA
19-15483713-G-A p.Thr270Thr synonymous AKAP8 2 81756 2.4463E-5 40878 0 NA
19-15483728-G-A p.Gly265Gly synonymous AKAP8 2 81552 2.45242E-5 40776 0 2.27993E-5
19-15483731-C-T p.Ala264Ala synonymous AKAP8 1 81614 1.22528E-5 40807 0 3.18756E-5
19-15483732-G-A p.Ala264Val missense AKAP8 2 81538 2.45284E-5 40769 0 0.00100705
19-15483742-T-A p.Met261Leu missense AKAP8 1 81686 1.2242E-5 40843 0 5.52676E-6
19-15483751-C-T p.Val258Met missense AKAP8 423 81668 0.00517951 40834 0 0.00488768
19-15483751-C-G p.Val258Leu missense AKAP8 23 81682 2.8158E-4 40841 0 9.66713E-5
19-15483756-T-C p.Tyr256Cys missense AKAP8 1 81702 1.22396E-5 40851 0 NA
19-15483761-G-A p.Pro254Pro synonymous AKAP8 6 81788 7.33604E-5 40894 0 3.62146E-5
19-15483766-C-A p.Ala253Ser missense AKAP8 2 81732 2.44702E-5 40866 0 5.04541E-4
19-15483766-C-T p.Ala253Thr missense AKAP8 1 81732 1.22351E-5 40866 0 NA
19-15483776-G-A p.Ser249Ser synonymous AKAP8 1 81786 1.2227E-5 40893 0 3.18796E-5
19-15483783-A-C p.Leu247Arg missense AKAP8 1 81720 1.22369E-5 40860 0 NA
19-15483788-C-T p.Pro245Pro synonymous AKAP8 10 81572 1.22591E-4 40786 0 3.34024E-5
19-15483795-G-A p.Pro243Leu missense AKAP8 1 81516 1.22675E-5 40758 0 3.18939E-5
19-15483797-C-A p.Arg242Arg synonymous AKAP8 1 81406 1.22841E-5 40703 0 1.12689E-5
19-15483799-G-A p.Arg242Trp missense AKAP8 6 81536 7.35871E-5 40768 0 5.05561E-4
19-15483800-G-A p.Ser241Ser synonymous AKAP8 9 81494 1.10438E-4 40747 0 0.00151668
19-15483804-G-T p.Pro240His missense AKAP8 54 81634 6.61489E-4 40817 0 0.006875
19-15483806-G-T p.Ser239Ser synonymous AKAP8 1 81672 1.22441E-5 40836 0 0.00101112
19-15483809-G-C p.Pro238Pro synonymous AKAP8 8 81572 9.80729E-5 40786 0 6.38162E-5
19-15483812-C-T p.Gly237Gly synonymous AKAP8 96 81490 0.00117806 40745 0 0.00101366
19-15483814-C-G p.Gly237Arg missense AKAP8 1 81610 1.22534E-5 40805 0 NA
19-15483818-C-G p.Leu235Leu synonymous AKAP8 50 81620 6.12595E-4 40810 0 0.00421218
19-15483825-C-G p.Arg233Pro missense AKAP8 1 81590 1.22564E-5 40795 0 NA
19-15483825-C-T p.Arg233Gln missense AKAP8 1 81590 1.22564E-5 40795 0 5.05561E-4
19-15483835-C-T p.Val230Met missense AKAP8 2 81550 2.45248E-5 40775 0 4.45589E-6
19-15483836-G-A p.Tyr229Tyr synonymous AKAP8 6 81534 7.35889E-5 40767 0 6.20419E-5
19-15483844-G-C p.Leu227Val missense AKAP8 2 81502 2.45393E-5 40751 0 8.72471E-6
19-15483847-C-T p.Glu226Lys missense AKAP8 306 81478 0.00375562 40739 0 0.00299361
19-15483848-G-A p.Thr132Met missense AKAP8 1 81474 1.22739E-5 40737 0 3.31954E-5
19-15483857-C-T p.Arg129His missense AKAP8 2 81400 2.457E-5 40700 0 5.04541E-4
19-15483857-C-A p.Arg129Leu missense AKAP8 1 81400 1.2285E-5 40700 0 4.33125E-5
19-15483860-G-C p.Pro128Arg missense AKAP8 4 81406 4.91364E-5 40703 0 6.37389E-5
19-15483863-C-T p.Cys127Tyr missense AKAP8 27 81378 3.31785E-4 40689 0 0.00201816
19-15483863-CA-C p.Leu220fs frameshift AKAP8 1 81378 1.22883E-5 40689 0 4.23445E-6
19-15483878-C-T p.Arg122His missense AKAP8 1 81192 1.23165E-5 40596 0 5.13832E-5
19-15483883-C-CG p.Ala214fs frameshift AKAP8 1 81128 1.23262E-5 40564 0 4.08764E-5
19-15483883-C-T p.Ala214Thr missense AKAP8 1 81134 1.23253E-5 40567 0 3.19142E-5
19-15483884-G-A p.Pro120Leu missense AKAP8 5 81204 6.15733E-5 40602 1 0.00100908
19-15483890-C-G p.Cys118Ser missense AKAP8 7 81222 8.61835E-5 40611 0 1.0914E-4
19-15483892-C-T p.Val211Met missense AKAP8 11 81260 1.35368E-4 40630 0 2.74952E-4
19-15483893-G-A p.Ser117Leu missense AKAP8 3 81340 3.68822E-5 40670 0 3.93747E-5
19-15483902-G-A p.Ala114Val missense AKAP8 1 81330 1.22956E-5 40665 0 1.65917E-5
19-15483906-C-T p.Arg206His missense AKAP8 406 81460 0.00498404 40730 1 0.00853356
19-15483907-G-A p.Arg206Cys missense AKAP8 2 81546 2.4526E-5 40773 0 8.55188E-5
19-15483909-A-G p.Met205Thr missense AKAP8 1 81706 1.2239E-5 40853 0 8.22761E-6
19-15483910-T-C p.Met205Val missense AKAP8 2 81734 2.44696E-5 40867 0 NA
19-15483911-G-C p.Ser111* stop_gained AKAP8 1 81746 1.2233E-5 40873 0 4.11424E-6
19-15483914-G-C p.Pro110Arg missense AKAP8 5 81788 6.11337E-5 40894 0 8.22605E-6
19-15483923-G-A p.Thr107Ile missense AKAP8 1 81852 1.22172E-5 40926 0 NA
19-15483930-C-T p.Arg198Gln missense AKAP8 11 81884 1.34336E-4 40942 0 0.00125
19-15483931-G-C p.Arg198Gly missense AKAP8 3 81902 3.66291E-5 40951 0 2.74786E-5
19-15483933-T-C p.Asp197Gly missense AKAP8 1 81932 1.22052E-5 40966 0 4.09373E-6
19-15483934-C-T p.Asp197Asn missense AKAP8 1 81978 1.21984E-5 40989 0 4.09329E-6
19-15483942-C-T p.Arg194His missense AKAP8 128 82044 0.00156014 41022 1 0.00906344
19-15483943-G-A p.Arg194Cys missense AKAP8 1 82106 1.21794E-5 41053 0 3.18898E-5
19-15483946-C-G p.Gly193Arg missense AKAP8 1 82142 1.2174E-5 41071 0 NA
19-15483951-C-T p.Gly191Asp missense AKAP8 1 82178 1.21687E-5 41089 0 6.26566E-4
19-15483952-C-T p.Gly191Ser missense AKAP8 6 82210 7.29838E-5 41105 0 2.87173E-4
19-15483954-C-T p.Arg190Gln missense AKAP8 4 82272 4.86192E-5 41136 0 2.6824E-5
19-15483955-G-A p.Arg190Trp missense AKAP8 4 82292 4.86074E-5 41146 0 8.02812E-5
19-15483957-C-A p.Gly189Val missense AKAP8 1 82342 1.21445E-5 41171 0 3.18878E-5
19-15483960-C-T p.Arg188Gln missense AKAP8 2 82426 2.42642E-5 41213 0 7.09031E-5
19-15483961-G-A p.Arg188Trp missense AKAP8 6 82406 7.28102E-5 41203 0 5.04032E-4
19-15483977-G-A p.Pro89Leu missense AKAP8 3 82640 3.6302E-5 41320 0 6.25E-4
19-15483984-C-T p.Arg180Gln missense AKAP8 2 82674 2.41914E-5 41337 0 3.19E-5
19-15483985-G-C p.Arg180Gly missense AKAP8 2 82656 2.41967E-5 41328 0 8.65786E-6
19-15483990-C-T p.Arg178Gln missense AKAP8 2 82698 2.41844E-5 41349 0 4.02774E-5
19-15483991-G-A p.Arg178Trp missense AKAP8 5 82742 6.04288E-5 41371 0 1.91363E-4
19-15483992-G-A p.Pro84Leu missense AKAP8 1 82744 1.20855E-5 41372 0 1.71925E-5
19-15484004-G-C p.Cys173Trp missense AKAP8 4 82790 4.8315E-5 41395 0 6.81887E-5
19-15484023-C-T p.Gly167Glu missense AKAP8 332 82888 0.0040054 41444 1 0.00682224
19-15484023-C-A p.Gly167Val missense AKAP8 5 82898 6.03151E-5 41449 0 8.44566E-6
19-15484024-C-T p.Gly167Arg missense AKAP8 10 82896 1.20633E-4 41448 0 9.56206E-5
19-15484035-T-C p.Asn163Ser missense AKAP8 4 82980 4.82044E-5 41490 0 3.19364E-5
19-15484038-C-T p.Arg162His missense AKAP8 1 82964 1.20534E-5 41482 0 3.18695E-5
19-15484039-G-A p.Arg162Cys missense AKAP8 2 82966 2.41063E-5 41483 0 1.27518E-4
19-15484042-C-T p.Asp161Asn missense AKAP8 1 82966 1.20531E-5 41483 0 3.36513E-5
19-15484043-G-A p.Pro67Leu missense AKAP8 6 82956 7.23275E-5 41478 0 1.6822E-5
19-15484045-A-AC p.Ser160fs frameshift AKAP8 1 82932 1.20581E-5 41466 0 NA
19-15484047-C-G p.Gly159Ala missense AKAP8 1 82956 1.20546E-5 41478 0 NA
19-15484054-C-G p.Asp157His missense AKAP8 1 82952 1.20552E-5 41476 0 NA
19-15484057-A-G p.Phe156Leu missense AKAP8 1 82964 1.20534E-5 41482 0 0.00125
19-15484066-C-T p.Asp153Asn missense AKAP8 4 82950 4.82218E-5 41475 0 1.68557E-5
19-15484074-T-C p.Tyr150Cys missense AKAP8 5 82868 6.03369E-5 41434 0 4.14594E-4
19-15484079-G-A p.Pro55Leu missense AKAP8 3 82820 3.62231E-5 41410 0 NA
19-15484083-C-T p.Arg147His missense AKAP8 13 82724 1.57149E-4 41362 0 1.27559E-4
19-15484090-G-A p.Pro145Ser missense AKAP8 1 82688 1.20937E-5 41344 0 3.41076E-5
19-15484094-G-C p.His143Gln missense AKAP8 2 82604 2.42119E-5 41302 0 1.71201E-5
19-15484099-C-G p.Glu142Gln missense AKAP8 1 82534 1.21162E-5 41267 0 NA
19-15484100-C-T p.Arg48Gln missense AKAP8 1 82510 1.21197E-5 41255 0 1.60667E-5
19-15484101-G-A p.Pro141Leu missense AKAP8 1 82492 1.21224E-5 41246 0 6.91264E-5
19-15484122-T-C p.Tyr134Cys missense AKAP8 2 82064 2.43712E-5 41032 0 1.78936E-5
19-15484129-C-T p.Glu132Lys missense AKAP8 48 81776 5.86969E-4 40888 0 0.0018797
19-15484130-G-A p.Ser38Leu missense AKAP8 1 81780 1.22279E-5 40890 0 2.77254E-5
19-15484133-C-T p.Arg37His missense AKAP8 35 81668 4.28564E-4 40834 0 0.00453629
19-15484134-G-A p.Pro130Leu missense AKAP8 7 81606 8.5778E-5 40803 0 6.38081E-5
19-15484142-G-T p.Ala34Asp missense AKAP8 1 81278 1.23035E-5 40639 0 4.17011E-6
19-15484144-G-A p.Arg127Cys missense AKAP8 6 81218 7.38752E-5 40609 0 4.6187E-5
19-15484528-T-C n.557A>G splice_region AKAP8 1 67946 1.47176E-5 33973 0 NA
19-15484603-C-T p.Arg122Gln missense AKAP8 3 77672 3.8624E-5 38836 0 4.0857E-6
19-15484604-G-A p.Arg122Trp missense AKAP8 2 77762 2.57195E-5 38881 0 3.63643E-5
19-15484609-T-C p.Gln120Arg missense AKAP8 1 78482 1.27418E-5 39241 0 8.96732E-6
19-15484624-C-G p.Gly115Ala missense AKAP8 1 79566 1.25682E-5 39783 0 NA
19-15484625-C-T p.Gly115Ser missense AKAP8 1 79580 1.2566E-5 39790 0 1.7428E-5
19-15484628-C-T p.Gly114Ser missense AKAP8 6 80204 7.48092E-5 40102 0 8.64708E-6
19-15484631-C-T p.Gly113Ser missense AKAP8 1 80480 1.24254E-5 40240 0 6.37592E-5
19-15484632-G-A p.Ser112Ser synonymous AKAP8 1 80462 1.24282E-5 40231 0 6.37999E-5
19-15484635-C-G p.Gly111Gly synonymous AKAP8 1 80904 1.23603E-5 40452 0 NA
19-15484637-C-T p.Gly111Arg missense AKAP8 6 81048 7.40302E-5 40524 0 7.20254E-5
19-15484638-G-A p.Gly110Gly synonymous AKAP8 42 80988 5.18595E-4 40494 0 6.25E-4
19-15484641-C-A p.Arg109Ser missense AKAP8 8 81360 9.83284E-5 40680 0 6.25E-4
19-15484645-C-T p.Gly108Asp missense AKAP8 1 81524 1.22663E-5 40762 0 9.58497E-5
19-15484665-G-C p.Asp101Glu missense AKAP8 1 82162 1.21711E-5 41081 0 NA
19-15484667-C-G p.Asp101His missense AKAP8 1 82194 1.21663E-5 41097 0 3.98629E-6
19-15484672-C-T p.Arg99His missense AKAP8 2 82284 2.43061E-5 41142 0 8.34237E-6
19-15484674-C-T p.Gln98Gln synonymous AKAP8 2 82320 2.42954E-5 41160 0 3.98435E-6
19-15484684-T-C p.Lys95Arg missense AKAP8 1 82480 1.21242E-5 41240 0 3.98254E-6
19-15484685-T-G p.Lys95Gln missense AKAP8 1 82498 1.21215E-5 41249 0 NA
19-15484691-T-C p.Ile93Val missense AKAP8 5 82574 6.05517E-5 41287 0 1.6613E-5
19-15484700-C-T p.Asp90Asn missense AKAP8 4 82616 4.84168E-5 41308 0 0.00101937
19-15484701-G-A p.Ser89Ser synonymous AKAP8 1 82618 1.21039E-5 41309 0 8.30027E-5
19-15484709-C-T p.Asp87Asn missense AKAP8 1 82646 1.20998E-5 41323 0 2.48934E-5
19-15484712-T-C p.Thr86Ala missense AKAP8 1 82692 1.20931E-5 41346 0 NA
19-15484724-G-A p.Pro82Ser missense AKAP8 4 82814 4.8301E-5 41407 0 1.59341E-5
19-15484727-C-T p.Gly81Ser missense AKAP8 20 82806 2.41528E-4 41403 0 1.16111E-4
19-15484731-A-G p.Ser79Ser synonymous AKAP8 3 82862 3.62048E-5 41431 0 NA
19-15484736-C-A p.Ala78Ser missense AKAP8 9 82862 1.08614E-4 41431 0 6.13639E-4
19-15484739-T-C p.Met77Val missense AKAP8 22 82868 2.65482E-4 41434 0 0.00125
19-15484742-G-A p.His76Tyr missense AKAP8 2 82858 2.41377E-5 41429 0 1.2738E-4
19-15484746-G-A p.Ala74Ala synonymous AKAP8 3 82808 3.62284E-5 41404 0 3.18492E-5
19-15484747-G-A p.Ala74Val missense AKAP8 14 82792 1.69098E-4 41396 0 1.33293E-4
19-15484752-G-A p.Ala72Ala synonymous AKAP8 11 82680 1.33043E-4 41340 0 2.23044E-4
19-15484753-G-T p.Ala72Asp missense AKAP8 3 82620 3.63108E-5 41310 0 2.53533E-5
19-15484754-C-G p.Ala72Pro missense AKAP8 1 82530 1.21168E-5 41265 0 NA
19-15484757-C-T p.Gly71Arg missense AKAP8 2 82172 2.43392E-5 41086 0 2.51745E-5
19-15484758-G-A p.Ala70Ala synonymous AKAP8 2 81848 2.44355E-5 40924 0 3.18634E-5
19-15484762-G-C p.Ala69Gly missense AKAP8 20 81682 2.44852E-4 40841 0 1.17641E-4
19-15484762-G-A p.Ala69Val missense AKAP8 4 81682 4.89704E-5 40841 0 8.40294E-6
19-15484766-G-GGCC p.Gly67dup conservative_inframe_insertion AKAP8 1 81794 1.22258E-5 40897 0 NA
19-15484769-C-T p.Gly67Ser missense AKAP8 3 81810 3.66703E-5 40905 0 4.41172E-5
19-15484778-T-C p.Asn64Asp missense AKAP8 1 81978 1.21984E-5 40989 0 NA
19-15484778-TGGCCTTGGCGGCCTCCCACGA-T p.Ser57_Ala63del conservative_inframe_deletion AKAP8 6 81978 7.31904E-5 40989 0 4.00339E-6
19-15484782-C-T p.Lys62Lys synonymous AKAP8 60 81920 7.32422E-4 40960 0 0.00194305
19-15484787-C-T p.Ala61Thr missense AKAP8 1 81826 1.22211E-5 40913 0 3.34359E-5
19-15484788-G-A p.Ala60Ala synonymous AKAP8 2 81844 2.44367E-5 40922 0 8.34975E-6
19-15484793-C-T p.Glu59Lys missense AKAP8 1 81788 1.22267E-5 40894 0 NA
19-15484797-C-T p.Ser57Ser synonymous AKAP8 3 81784 3.6682E-5 40892 0 3.18756E-5
19-15484803-T-C p.Pro55Pro synonymous AKAP8 1 81826 1.22211E-5 40913 0 NA
19-15484808-C-T p.Gly54Ser missense AKAP8 1 81786 1.2227E-5 40893 0 3.18715E-5
19-15484809-G-A p.Tyr53Tyr synonymous AKAP8 3 81796 3.66766E-5 40898 0 5.29363E-5
19-15484823-C-T p.Ala49Thr missense AKAP8 2 81752 2.44642E-5 40876 0 2.08037E-5
19-15484832-T-G p.Thr46Pro missense AKAP8 1 81760 1.22309E-5 40880 0 NA
19-15484840-G-A p.Thr43Ile missense AKAP8 14 81760 1.71233E-4 40880 0 5.20815E-5
19-15484846-T-C p.Gln41Arg missense AKAP8 1 81752 1.22321E-5 40876 0 NA
19-15484848-G-C p.Ala40Ala synonymous AKAP8 1 81726 1.2236E-5 40863 0 8.61074E-6
19-15484850-C-A p.Ala40Ser missense AKAP8 7 81668 8.57129E-5 40834 0 NA
19-15484850-C-T p.Ala40Thr missense AKAP8 3 81668 3.67341E-5 40834 0 0.00125
19-15484851-G-A p.Gly39Gly synonymous AKAP8 37 81668 4.53054E-4 40834 0 0.00175282
19-15484851-G-T p.Gly39Gly synonymous AKAP8 1 81668 1.22447E-5 40834 0 NA
19-15484855-T-C p.Tyr38Cys missense AKAP8 1 81712 1.22381E-5 40856 0 4.36407E-5
19-15484861-T-C p.Asn36Ser missense AKAP8 18 81674 2.20388E-4 40837 0 4.30449E-5
19-15484866-G-C p.Asn34Lys missense AKAP8 11 81602 1.34801E-4 40801 0 9.55718E-5
19-15484870-T-A p.Glu33Val missense AKAP8 1 81514 1.22678E-5 40757 0 NA
19-15484883-C-T c.92-7G>A splice_region AKAP8 5 81074 6.1672E-5 40537 0 6.37105E-5
19-15484883-CAG-C c.92-9_92-8delCT splice_region AKAP8 1 81074 1.23344E-5 40537 0 5.30684E-6
19-15484883-CA-C c.92-8delT splice_region AKAP8 1 81074 1.23344E-5 40537 0 2.72499E-5
19-15485407-G-A c.91+7C>T splice_region AKAP8 8 82612 9.68382E-5 41306 0 1.19964E-5
19-15485415-T-A p.Gln30His missense+splice_region AKAP8 1 82692 1.20931E-5 41346 0 NA
19-15485444-C-T p.Ala21Thr missense+splice_region AKAP8 1 82748 1.20849E-5 41374 0 6.66744E-5
19-15487779-C-T c.58+8G>A splice_region AKAP8 1 82540 1.21153E-5 41270 0 NA
19-15487801-G-A p.Pro15Leu missense AKAP8 2 82692 2.41861E-5 41346 0 1.20955E-4
19-15487810-C-T p.Ser12Asn missense AKAP8 3 82628 3.63073E-5 41314 0 5.23936E-5
19-15487815-C-T p.Ala10Ala synonymous AKAP8 1 82682 1.20945E-5 41341 0 8.06003E-6
19-15487816-G-A p.Ala10Val missense AKAP8 3 82668 3.62897E-5 41334 0 1.69336E-4
19-15487818-C-A p.Gly9Gly synonymous AKAP8 1 82708 1.20907E-5 41354 0 NA
19-15487821-G-A p.Tyr8Tyr synonymous AKAP8 2 82666 2.41937E-5 41333 0 1.20925E-5
19-15487828-G-A c.20-3C>T splice_region AKAP8 1 82692 1.20931E-5 41346 0 NA
19-15487829-C-G c.20-4G>C splice_region AKAP8 4 82686 4.83758E-5 41343 0 NA
19-15490518-A-G c.19+6T>C splice_region AKAP8 1 80402 1.24375E-5 40201 0 4.08764E-6
19-15490519-C-G c.19+5G>C splice_region AKAP8 2 80426 2.48676E-5 40213 0 NA
19-15490526-C-T p.Gly6Glu missense+splice_region AKAP8 2 80588 2.48176E-5 40294 0 NA
19-15490533-C-A p.Gly4Cys missense AKAP8 11 80672 1.36355E-4 40336 0 0.00201613
19-15490554-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain AKAP8 3 80636 3.72042E-5 40318 0 8.75933E-6
19-15490560-C-A c.-18G>T 5_prime_UTR_premature_start_codon_gain AKAP8 1 80688 1.23934E-5 40344 0 NA
19-15490561-C-A c.-19G>T 5_prime_UTR_premature_start_codon_gain AKAP8 2 80662 2.47948E-5 40331 0 NA
19-15490587-C-T c.-45G>A 5_prime_UTR_premature_start_codon_gain AKAP8 2 79984 2.5005E-5 39992 0 8.85253E-6