Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-4724672-CAT-C c.*231_*232delAT splice_region AKAP3 5 51972 9.62057E-5 25986 0 9.55901E-5
12-4724915-A-G p.Val851Ala missense AKAP3 4 80992 4.93876E-5 40496 0 NA
12-4724926-G-C p.Asp847Glu missense AKAP3 1 81208 1.23141E-5 40604 0 NA
12-4724934-G-C p.Leu845Val missense AKAP3 79 81310 9.7159E-4 40655 0 0.001875
12-4724938-C-T p.Leu843Leu synonymous AKAP3 2 81332 2.45906E-5 40666 0 3.18532E-5
12-4724940-G-A p.Leu843Leu synonymous AKAP3 2 81330 2.45912E-5 40665 0 NA
12-4724941-C-G p.Pro842Pro synonymous AKAP3 1 81286 1.23022E-5 40643 0 8.27897E-6
12-4724942-G-A p.Pro842Leu missense AKAP3 2 81278 2.46069E-5 40639 0 2.39408E-5
12-4724947-G-C p.Val840Val synonymous AKAP3 5 81472 6.13708E-5 40736 0 4.13681E-5
12-4724950-A-G p.Asn839Asn synonymous AKAP3 2 81524 2.45327E-5 40762 0 1.65442E-5
12-4724959-C-T p.Ala836Ala synonymous AKAP3 2 81608 2.45074E-5 40804 0 1.27413E-4
12-4724966-T-C p.Asn834Ser missense AKAP3 5 81838 6.10963E-5 40919 0 1.91095E-4
12-4724966-T-A p.Asn834Ile missense AKAP3 2 81838 2.44385E-5 40919 0 4.96089E-5
12-4724975-C-T p.Arg831His missense AKAP3 1 81752 1.22321E-5 40876 0 1.65371E-5
12-4724976-G-A p.Arg831Cys missense AKAP3 42 81738 5.13837E-4 40869 0 6.68875E-4
12-4724982-T-C p.Lys829Glu missense AKAP3 2 81864 2.44308E-5 40932 0 1.81896E-4
12-4724995-C-T p.Val824Val synonymous AKAP3 695 81718 0.00850486 40859 1 0.00626031
12-4724997-C-A p.Val824Leu missense AKAP3 1 81766 1.223E-5 40883 0 NA
12-4724998-C-T p.Ser823Ser synonymous AKAP3 1 81722 1.22366E-5 40861 0 2.48123E-5
12-4724999-G-A p.Ser823Leu missense AKAP3 144 81700 0.00176255 40850 0 0.00308917
12-4725012-C-T p.Glu819Lys missense AKAP3 2 81540 2.45278E-5 40770 0 3.1837E-5
12-4725016-C-T p.Val817Val synonymous AKAP3 1 81400 1.2285E-5 40700 0 3.30849E-4
12-4725039-C-T p.Ala810Thr missense AKAP3 1 80438 1.24319E-5 40219 0 3.18431E-5
12-4735676-C-A p.Gly798Trp missense AKAP3 2 83344 2.39969E-5 41672 0 2.39313E-5
12-4735687-C-T p.Gly794Asp missense AKAP3 1 83368 1.1995E-5 41684 0 4.1349E-5
12-4735694-A-T p.Phe792Ile missense AKAP3 1 83360 1.19962E-5 41680 0 NA
12-4735711-T-C p.Asn786Ser missense AKAP3 1 83350 1.19976E-5 41675 0 3.5828E-5
12-4735734-T-C p.Gln778Gln synonymous AKAP3 4929 83304 0.0591688 41652 283 0.0862014
12-4735737-A-G p.Leu777Leu synonymous AKAP3 23276 83136 0.279975 41568 3442 0.3175
12-4735742-C-T p.Val776Ile missense AKAP3 18 83340 2.15983E-4 41670 0 2.80126E-4
12-4735743-G-A p.Ala775Ala synonymous AKAP3 1 83340 1.1999E-5 41670 0 3.18471E-5
12-4735754-GCTT-G p.Lys771del conservative_inframe_deletion AKAP3 1 83326 1.20011E-5 41663 0 NA
12-4735763-G-C p.Gln769Glu missense AKAP3 1 83328 1.20008E-5 41664 0 NA
12-4735765-A-T p.Val768Asp missense AKAP3 1 83330 1.20005E-5 41665 0 NA
12-4735767-T-G p.Thr767Thr synonymous AKAP3 1 83322 1.20016E-5 41661 0 3.97735E-6
12-4735770-G-A p.Asp766Asp synonymous AKAP3 1973 83300 0.0236855 41650 26 0.0248726
12-4735773-C-T p.Thr765Thr synonymous AKAP3 5 83320 6.00096E-5 41660 0 1.63074E-4
12-4735774-G-A p.Thr765Met missense AKAP3 1 83318 1.20022E-5 41659 0 3.1839E-5
12-4735780-T-C p.Asn763Ser missense AKAP3 2 83322 2.40033E-5 41661 0 NA
12-4735800-C-T p.Thr756Thr synonymous AKAP3 189 83262 0.00226994 41631 0 0.00544551
12-4735801-G-T p.Thr756Lys missense AKAP3 227 83274 0.00272594 41637 3 0.00563587
12-4735801-G-A p.Thr756Met missense AKAP3 1 83278 1.2008E-5 41639 0 1.64775E-5
12-4735809-T-A p.Ala753Ala synonymous AKAP3 1 83252 1.20117E-5 41626 0 3.1841E-5
12-4735821-A-AG p.Glu750fs frameshift AKAP3 1 83198 1.20195E-5 41599 0 NA
12-4735826-G-A p.Pro748Ser missense AKAP3 2 83166 2.40483E-5 41583 0 3.97912E-6
12-4735837-G-A p.Thr744Ile missense AKAP3 8 83134 9.62302E-5 41567 0 5.03525E-4
12-4735838-T-C p.Thr744Ala missense AKAP3 1 83122 1.20305E-5 41561 0 NA
12-4735840-C-T p.Gly743Asp missense AKAP3 1 83106 1.20328E-5 41553 0 7.96185E-6
12-4735865-G-C p.Gln735Glu missense AKAP3 1 82860 1.20685E-5 41430 0 NA
12-4735885-G-A p.Ala728Val missense AKAP3 2 82594 2.42148E-5 41297 0 8.25219E-6
12-4735889-C-T p.Glu727Lys missense AKAP3 8 82544 9.6918E-5 41272 0 2.23115E-4
12-4735894-G-A p.Ser725Leu missense AKAP3 5251 82144 0.0639243 41072 257 0.0932463
12-4735901-T-G p.Thr723Pro missense AKAP3 1 82348 1.21436E-5 41174 0 5.03525E-4
12-4735902-G-A p.Gly722Gly synonymous AKAP3 1 82296 1.21513E-5 41148 0 3.18776E-5
12-4735905-C-T p.Lys721Lys synonymous AKAP3 1 82284 1.2153E-5 41142 0 3.18613E-5
12-4735918-C-CA p.Cys717fs frameshift AKAP3 1 81852 1.22172E-5 40926 0 NA
12-4735941-G-A p.Ala709Ala synonymous AKAP3 1 81078 1.23338E-5 40539 0 NA
12-4735949-T-A p.Thr707Ser missense AKAP3 1 80660 1.23977E-5 40330 0 8.02214E-6
12-4735965-T-TC p.Asp702fs frameshift AKAP3 10257 79958 0.12828 39979 693 0.138994
12-4735969-GA-G p.Ser700fs frameshift AKAP3 10170 79776 0.127482 39888 680 0.139835
12-4735970-A-ACTTGTCATCTCCCAGCTTGTCATCTCCCAG p.Lys699_Ser700insLeuGlyAspAspLysLeuGlyAspAspLys conservative_inframe_insertion AKAP3 411 79372 0.00517815 39686 5 0.00873836
12-4735979-C-T p.Asp697Asn missense AKAP3 16 79748 2.00632E-4 39874 0 1.49197E-4
12-4735995-C-T p.Ser691Ser synonymous AKAP3 2 79454 2.51718E-5 39727 0 5.84483E-5
12-4735996-G-A p.Ser691Leu missense AKAP3 1 79458 1.25853E-5 39729 0 6.47165E-5
12-4736026-C-T p.Cys681Tyr missense AKAP3 1 79530 1.25739E-5 39765 0 NA
12-4736039-C-T p.Val677Met missense AKAP3 3 79744 3.76204E-5 39872 0 1.20409E-5
12-4736046-C-G p.Met674Ile missense AKAP3 3 79848 3.75714E-5 39924 0 4.01072E-6
12-4736047-A-G p.Met674Thr missense AKAP3 1 79906 1.25147E-5 39953 0 NA
12-4736053-T-C p.His672Arg missense AKAP3 1 80028 1.24956E-5 40014 0 3.19163E-5
12-4736054-G-T p.His672Asn missense AKAP3 2 80050 2.49844E-5 40025 0 NA
12-4736060-C-T p.Val670Ile missense AKAP3 1 80178 1.24722E-5 40089 0 1.59571E-4
12-4736070-A-T p.Ser666Arg missense AKAP3 2 80462 2.48565E-5 40231 0 NA
12-4736074-A-G p.Met665Thr missense AKAP3 1 80684 1.2394E-5 40342 0 NA
12-4736076-G-A p.His664His synonymous AKAP3 1 80714 1.23894E-5 40357 0 NA
12-4736077-T-TGGC p.Gly663_His664insArg conservative_inframe_insertion AKAP3 2 80728 2.47746E-5 40364 0 6.3804E-5
12-4736082-A-G p.Asp662Asp synonymous AKAP3 1 80924 1.23573E-5 40462 0 2.48694E-5
12-4736084-C-G p.Asp662His missense AKAP3 1 80946 1.23539E-5 40473 0 NA
12-4736086-A-G p.Ile661Thr missense AKAP3 5439 80790 0.0673227 40395 384 0.0968678
12-4736094-G-C p.Val658Val synonymous AKAP3 2 81172 2.4639E-5 40586 0 3.99639E-5
12-4736099-C-T p.Ala657Thr missense AKAP3 3 81346 3.68795E-5 40673 0 3.18512E-5
12-4736101-A-T p.Met656Lys missense AKAP3 1 81456 1.22766E-5 40728 0 8.28542E-6
12-4736105-TG-T p.Lys655fs frameshift AKAP3 1 81544 1.22633E-5 40772 0 NA
12-4736107-G-C p.Thr654Ser missense AKAP3 1 81566 1.226E-5 40783 0 NA
12-4736113-C-G p.Gly652Ala missense AKAP3 7 81698 8.56814E-5 40849 0 5.03525E-4
12-4736125-C-T p.Gly648Asp missense AKAP3 4 81970 4.87983E-5 40985 0 9.10777E-5
12-4736128-G-A p.Pro647Leu missense AKAP3 7 82074 8.52889E-5 41037 0 9.55597E-5
12-4736135-C-T p.Glu645Lys missense AKAP3 17 82232 2.06732E-4 41116 0 3.50452E-4
12-4736143-T-A p.Glu642Val missense AKAP3 1 82404 1.21353E-5 41202 0 NA
12-4736143-T-C p.Glu642Gly missense AKAP3 1 82404 1.21353E-5 41202 0 3.98613E-6
12-4736146-T-A p.Tyr641Phe missense AKAP3 44 82434 5.3376E-4 41217 0 3.82214E-4
12-4736150-G-A p.Leu640Leu synonymous AKAP3 2 82492 2.42448E-5 41246 0 8.27924E-6
12-4736152-C-T p.Arg639Lys missense AKAP3 1 82490 1.21227E-5 41245 0 3.98606E-6
12-4736153-T-TG p.Arg639fs frameshift AKAP3 3 82524 3.63531E-5 41262 0 3.98711E-6
12-4736155-G-A p.Pro638Leu missense AKAP3 1 82534 1.21162E-5 41267 0 NA
12-4736158-G-A p.Pro637Leu missense AKAP3 1 82546 1.21145E-5 41273 0 1.19604E-5
12-4736159-G-A p.Pro637Ser missense AKAP3 1 82544 1.21148E-5 41272 0 3.98689E-6
12-4736164-G-T p.Ser635Tyr missense AKAP3 74 82586 8.96036E-4 41293 0 0.00210218
12-4736167-G-A p.Ala634Val missense AKAP3 5 82596 6.05356E-5 41298 0 4.14175E-5
12-4736172-C-T p.Pro632Pro synonymous AKAP3 48 82654 5.80734E-4 41327 0 0.0020141
12-4736173-G-A p.Pro632Leu missense AKAP3 3 82652 3.62968E-5 41326 0 3.18593E-5
12-4736180-C-T p.Glu630Lys missense AKAP3 1 82692 1.20931E-5 41346 0 3.9875E-6
12-4736182-C-T p.Cys629Tyr missense AKAP3 1 82694 1.20928E-5 41347 0 NA
12-4736200-T-A p.Lys623Met missense AKAP3 5 82732 6.04361E-5 41366 0 6.77961E-5
12-4736204-C-T p.Val622Ile missense AKAP3 1 82728 1.20878E-5 41364 0 5.03525E-4
12-4736210-G-C p.Gln620Glu missense AKAP3 5 82738 6.04317E-5 41369 0 3.3162E-5
12-4736214-C-T p.Pro618Pro synonymous AKAP3 1 82700 1.20919E-5 41350 0 6.36943E-5
12-4736215-G-A p.Pro618Leu missense AKAP3 5 82692 6.04653E-5 41346 0 1.19745E-5
12-4736219-C-A p.Val617Leu missense AKAP3 1 82704 1.20913E-5 41352 0 8.29518E-6
12-4736223-G-A p.Pro615Pro synonymous AKAP3 1 82736 1.20866E-5 41368 0 8.29408E-6
12-4736231-G-C p.Pro613Ala missense AKAP3 1 82686 1.20939E-5 41343 0 8.29091E-6
12-4736236-T-C p.Gln611Arg missense AKAP3 2 82688 2.41873E-5 41344 0 8.29215E-6
12-4736242-C-T p.Arg609His missense AKAP3 2 82702 2.41832E-5 41351 0 9.55353E-5
12-4736242-C-G p.Arg609Pro missense AKAP3 1 82702 1.20916E-5 41351 0 NA
12-4736243-G-A p.Arg609Cys missense AKAP3 1 82696 1.20925E-5 41348 0 6.25E-4
12-4736245-T-C p.Lys608Arg missense AKAP3 10 82720 1.2089E-4 41360 0 1.91046E-4
12-4736261-T-C p.Ser603Gly missense AKAP3 9 82760 1.08748E-4 41380 0 5.03525E-4
12-4736263-A-G p.Leu602Pro missense AKAP3 2 82760 2.41663E-5 41380 0 NA
12-4736272-C-T p.Arg599Gln missense AKAP3 130 82802 0.00157001 41401 0 0.0020141
12-4736273-G-A p.Arg599Trp missense AKAP3 22 82810 2.65668E-4 41405 0 6.37577E-5
12-4736276-T-C p.Ile598Val missense AKAP3 2 82824 2.41476E-5 41412 0 7.96648E-6
12-4736276-T-A p.Ile598Phe missense AKAP3 6 82824 7.24428E-5 41412 0 3.18492E-5
12-4736283-A-G p.Phe595Phe synonymous AKAP3 2 82882 2.41307E-5 41441 0 NA
12-4736295-C-G p.Arg591Ser missense AKAP3 1 82940 1.20569E-5 41470 0 NA
12-4736309-T-C p.Lys587Glu missense AKAP3 5 82968 6.02642E-5 41484 0 3.30961E-5
12-4736321-C-G p.Glu583Gln missense AKAP3 2 82966 2.41063E-5 41483 0 NA
12-4736330-C-G p.Gly580Arg missense AKAP3 1 82968 1.20528E-5 41484 0 NA
12-4736333-C-T p.Val579Ile missense AKAP3 1 82968 1.20528E-5 41484 0 8.27267E-6
12-4736339-G-C p.Pro577Ala missense AKAP3 1 82952 1.20552E-5 41476 0 8.2713E-6
12-4736340-A-G p.Ala576Ala synonymous AKAP3 1 82952 1.20552E-5 41476 0 NA
12-4736363-C-T p.Asp569Asn missense AKAP3 1 83008 1.2047E-5 41504 0 6.37024E-5
12-4736364-G-A p.Pro568Pro synonymous AKAP3 3 83014 3.61385E-5 41507 0 2.48201E-5
12-4736366-G-A p.Pro568Ser missense AKAP3 1 82998 1.20485E-5 41499 0 NA
12-4736376-A-G p.Pro564Pro synonymous AKAP3 1 83020 1.20453E-5 41510 0 8.26802E-6
12-4736377-G-A p.Pro564Leu missense AKAP3 1 83030 1.20438E-5 41515 0 NA
12-4736378-G-A p.Pro564Ser missense AKAP3 1 83028 1.20441E-5 41514 0 3.18512E-5
12-4736416-A-G p.Val551Ala missense AKAP3 1 83088 1.20354E-5 41544 0 3.18613E-5
12-4736418-G-A p.Phe550Phe synonymous AKAP3 1 83082 1.20363E-5 41541 0 8.25777E-6
12-4736426-G-A p.Arg548Trp missense AKAP3 1 83094 1.20346E-5 41547 0 3.18674E-5
12-4736434-C-G p.Arg545Thr missense AKAP3 1 83114 1.20317E-5 41557 0 2.38949E-5
12-4736442-T-A p.Gly542Gly synonymous AKAP3 2 83122 2.4061E-5 41561 0 NA
12-4736443-C-T p.Gly542Glu missense AKAP3 1 83112 1.2032E-5 41556 0 3.98254E-6
12-4736446-T-C p.Gln541Arg missense AKAP3 1 83118 1.20311E-5 41559 0 NA
12-4736458-T-C p.Tyr537Cys missense AKAP3 1 83096 1.20343E-5 41548 0 5.03525E-4
12-4736460-T-C p.Gln536Gln synonymous AKAP3 5 83088 6.01772E-5 41544 0 4.77859E-5
12-4736465-T-C p.Ile535Val missense AKAP3 1 83074 1.20375E-5 41537 0 3.18654E-5
12-4736476-G-A p.Ala531Val missense AKAP3 3 83024 3.61341E-5 41512 0 NA
12-4736483-C-T p.Val529Met missense AKAP3 1 82996 1.20488E-5 41498 0 3.18532E-5
12-4736484-G-A p.Ile528Ile synonymous AKAP3 1 82996 1.20488E-5 41498 0 3.98276E-6
12-4736489-G-A p.Leu527Leu synonymous AKAP3 2 82970 2.41051E-5 41485 0 3.18552E-5
12-4736495-C-T p.Glu525Lys missense AKAP3 81586 82338 0.990867 41169 40430 0.99875
12-4736500-C-T p.Trp523* stop_gained AKAP3 1 82892 1.20639E-5 41446 0 NA
12-4736506-T-A p.Asp521Val missense AKAP3 8 82868 9.65391E-5 41434 0 3.18669E-5
12-4736515-T-C p.Tyr518Cys missense AKAP3 2 82824 2.41476E-5 41412 0 3.30246E-5
12-4736519-T-A p.Met517Leu missense AKAP3 1 82786 1.20793E-5 41393 0 1.65139E-5
12-4736525-T-A p.Asn515Tyr missense AKAP3 2 82756 2.41674E-5 41378 0 8.25818E-6
12-4736526-C-A p.Glu514Asp missense AKAP3 1 82746 1.20852E-5 41373 0 6.37186E-5
12-4736543-G-A p.Pro509Ser missense AKAP3 1 82658 1.2098E-5 41329 0 NA
12-4736547-T-C p.Pro507Pro synonymous AKAP3 62 82690 7.49788E-4 41345 0 0.0010193
12-4736569-A-G p.Ile500Thr missense AKAP3 10436 82510 0.126482 41255 737 0.145
12-4736574-T-C p.Glu498Glu synonymous AKAP3 2 82692 2.41861E-5 41346 0 9.10264E-5
12-4736584-T-C p.Glu495Gly missense AKAP3 1 82736 1.20866E-5 41368 0 NA
12-4736594-T-C p.Ile492Val missense AKAP3 1 82806 1.20764E-5 41403 0 NA
12-4736597-C-A p.Asp491Tyr missense AKAP3 1 82814 1.20753E-5 41407 0 NA
12-4736611-C-T p.Arg486His missense AKAP3 3 82846 3.62118E-5 41423 0 3.59181E-5
12-4736612-G-A p.Arg486Cys missense AKAP3 3 82868 3.62022E-5 41434 0 3.31581E-5
12-4736630-C-T p.Glu480Lys missense AKAP3 1 82858 1.20688E-5 41429 0 0.00100705
12-4736631-A-G p.Phe479Phe synonymous AKAP3 81136 81896 0.99072 40948 40204 0.99875
12-4736643-C-T p.Gln475Gln synonymous AKAP3 1 82908 1.20616E-5 41454 0 NA
12-4736651-C-T p.Gly473Ser missense AKAP3 4 82898 4.82521E-5 41449 0 1.6524E-5
12-4736654-G-A p.Leu472Leu synonymous AKAP3 3 82918 3.61803E-5 41459 0 NA
12-4736656-G-C p.Ser471Cys missense AKAP3 1 82922 1.20595E-5 41461 0 3.9834E-6
12-4736663-ATTCT-A p.Lys467fs frameshift AKAP3 1 82920 1.20598E-5 41460 0 NA
12-4736675-G-C p.Gln465Glu missense AKAP3 1 82920 1.20598E-5 41460 0 2.4757E-5
12-4736677-G-C p.Thr464Ser missense AKAP3 79458 81930 0.969828 40965 38599 0.969375
12-4736690-A-G p.Leu460Leu synonymous AKAP3 80759 82158 0.982972 41079 39713 0.998125
12-4736690-A-T p.Leu460Met missense AKAP3 1 82900 1.20627E-5 41450 0 3.98137E-6
12-4736692-G-A p.Thr459Ile missense AKAP3 1 82900 1.20627E-5 41450 0 NA
12-4736699-CCT-C p.Glu456fs frameshift AKAP3 1 82882 1.20653E-5 41441 0 7.96502E-6
12-4736699-C-T p.Gly457Arg missense AKAP3 1 82882 1.20653E-5 41441 0 1.19475E-5
12-4736709-A-G p.Ile453Ile synonymous AKAP3 6 82820 7.24463E-5 41410 0 6.25E-4
12-4736716-T-A p.Glu451Val missense AKAP3 1 82770 1.20817E-5 41385 0 1.65645E-5
12-4736723-G-A p.Leu449Leu synonymous AKAP3 4 82750 4.83384E-5 41375 0 NA
12-4736730-C-T p.Ala446Ala synonymous AKAP3 13 82686 1.57221E-4 41343 0 4.4586E-4
12-4736731-G-A p.Ala446Val missense AKAP3 5 82644 6.05005E-5 41322 0 6.36943E-5
12-4736733-A-G p.Cys445Cys synonymous AKAP3 1 82624 1.2103E-5 41312 0 NA
12-4736739-C-G p.Glu443Asp missense AKAP3 1 82540 1.21153E-5 41270 0 NA
12-4736740-T-C p.Glu443Gly missense AKAP3 1 82506 1.21203E-5 41253 0 8.2938E-6
12-4736741-C-T p.Glu443Lys missense AKAP3 1 82498 1.21215E-5 41249 0 8.29449E-6
12-4736742-C-T p.Glu442Glu synonymous AKAP3 3 82490 3.6368E-5 41245 0 2.48826E-5
12-4736745-C-G p.Glu441Asp missense AKAP3 16 82438 1.94085E-4 41219 2 6.36862E-5
12-4736775-T-G p.Arg431Ser missense AKAP3 1 81454 1.22769E-5 40727 0 8.31145E-6
12-4736789-C-G p.Glu427Gln missense AKAP3 1 80868 1.23658E-5 40434 0 4.01616E-6
12-4736798-T-C p.Met424Val missense AKAP3 6 80530 7.45064E-5 40265 0 5.34519E-4
12-4736798-T-G p.Met424Leu missense AKAP3 2 80530 2.48355E-5 40265 0 1.27397E-4
12-4736801-C-CA p.Ala423fs frameshift AKAP3 1 80390 1.24394E-5 40195 0 8.31504E-6
12-4736815-C-T p.Arg418Gln missense AKAP3 1 79942 1.25091E-5 39971 0 6.25E-4
12-4736853-G-A p.Ser405Ser synonymous AKAP3 1 80130 1.24797E-5 40065 0 NA
12-4736897-G-T p.Pro391Thr missense AKAP3 1 81246 1.23083E-5 40623 0 2.86642E-4
12-4736902-T-A p.Lys389Ile missense AKAP3 1 81452 1.22772E-5 40726 0 3.99664E-6
12-4736903-T-C p.Lys389Glu missense AKAP3 1 81462 1.22757E-5 40731 0 NA
12-4736906-TG-T p.Lys388fs frameshift AKAP3 1 81518 1.22672E-5 40759 0 NA
12-4736910-A-C p.Phe386Leu missense AKAP3 1 81646 1.2248E-5 40823 0 NA
12-4736916-T-C p.Val384Val synonymous AKAP3 2 81758 2.44624E-5 40879 0 3.18512E-5
12-4736919-A-G p.Asn383Asn synonymous AKAP3 1 81836 1.22196E-5 40918 0 NA
12-4736922-G-A p.Tyr382Tyr synonymous AKAP3 1 81874 1.22139E-5 40937 0 3.99116E-6
12-4736923-T-C p.Tyr382Cys missense AKAP3 1 81914 1.22079E-5 40957 0 3.99023E-6
12-4736936-G-A p.Leu378Leu synonymous AKAP3 1 82170 1.21699E-5 41085 0 5.78532E-5
12-4736948-T-C p.Met374Val missense AKAP3 1 82396 1.21365E-5 41198 0 NA
12-4736951-T-A p.Ile373Phe missense AKAP3 2 82436 2.42612E-5 41218 0 NA
12-4736955-T-A p.Thr371Thr synonymous AKAP3 7 82474 8.48752E-5 41237 0 0.0020141
12-4736959-G-A p.Ala370Val missense AKAP3 3 82478 3.63733E-5 41239 0 3.187E-5
12-4736964-T-C p.Gln368Gln synonymous AKAP3 2 82546 2.42289E-5 41273 0 NA
12-4736970-T-C p.Gly366Gly synonymous AKAP3 1 82566 1.21115E-5 41283 0 NA
12-4736971-C-T p.Gly366Glu missense AKAP3 2 82572 2.42213E-5 41286 0 6.25E-4
12-4736973-A-C p.His365Gln missense AKAP3 2 82590 2.4216E-5 41295 0 NA
12-4736984-C-A p.Val362Phe missense AKAP3 3 82694 3.62783E-5 41347 0 8.24294E-6
12-4736988-T-C p.Arg360Arg synonymous AKAP3 12 82708 1.45089E-4 41354 0 2.47264E-5
12-4736996-C-T p.Val358Met missense AKAP3 32 82756 3.86679E-4 41378 0 0.00140136
12-4737000-C-T p.Ser356Ser synonymous AKAP3 3 82804 3.62301E-5 41402 0 2.47202E-5
12-4737001-G-A p.Ser356Leu missense AKAP3 10 82804 1.20767E-4 41402 0 5.03525E-4
12-4737006-A-C p.Phe354Leu missense AKAP3 2 82842 2.41423E-5 41421 0 8.2394E-6
12-4737023-T-C p.Met349Val missense AKAP3 1 82908 1.20616E-5 41454 0 1.6478E-5
12-4737024-G-A p.Leu348Leu synonymous AKAP3 1 82912 1.2061E-5 41456 0 3.18492E-5
12-4737027-G-C p.Thr347Thr synonymous AKAP3 4 82918 4.82404E-5 41459 0 1.15348E-4
12-4737035-T-G p.Thr345Pro missense AKAP3 18 82938 2.1703E-4 41469 0 9.55292E-5
12-4737037-A-G p.Val344Ala missense AKAP3 1 82934 1.20578E-5 41467 0 NA
12-4737038-C-T p.Val344Ile missense AKAP3 4 82930 4.82335E-5 41465 0 4.94364E-5
12-4737039-G-A p.Ser343Ser synonymous AKAP3 2 82930 2.41167E-5 41465 0 3.18512E-5
12-4737042-G-A p.His342His synonymous AKAP3 36505 82436 0.442828 41218 8838 0.432024
12-4737060-G-A p.Ser336Ser synonymous AKAP3 1 83044 1.20418E-5 41522 0 NA
12-4737063-G-A p.Asp335Asp synonymous AKAP3 1 83054 1.20404E-5 41527 0 NA
12-4737066-G-A p.Ile334Ile synonymous AKAP3 3 83060 3.61185E-5 41530 0 3.18654E-5
12-4737075-C-T p.Ser331Ser synonymous AKAP3 9 83080 1.08329E-4 41540 0 5.03525E-4
12-4737094-T-A p.His325Leu missense AKAP3 62 83108 7.46017E-4 41554 0 8.74732E-4
12-4737106-A-C p.Val321Gly missense AKAP3 1 83108 1.20325E-5 41554 0 NA
12-4737122-T-G p.Ile316Leu missense AKAP3 1 83114 1.20317E-5 41557 0 5.03525E-4
12-4737137-T-C p.Thr311Ala missense AKAP3 2 83138 2.40564E-5 41569 0 NA
12-4737137-T-G p.Thr311Pro missense AKAP3 1 83138 1.20282E-5 41569 0 NA
12-4737138-G-A p.Asp310Asp synonymous AKAP3 1 83130 1.20294E-5 41565 0 3.98222E-6
12-4737138-G-C p.Asp310Glu missense AKAP3 1 83130 1.20294E-5 41565 0 NA
12-4737147-T-C p.Gln307Gln synonymous AKAP3 3 83122 3.60915E-5 41561 0 6.37267E-5
12-4737148-T-G p.Gln307Pro missense AKAP3 2 83122 2.4061E-5 41561 0 NA
12-4737151-A-G p.Ile306Thr missense AKAP3 1 83122 1.20305E-5 41561 0 0.00127543
12-4737155-T-C p.Lys305Glu missense AKAP3 2 83110 2.40645E-5 41555 0 NA
12-4737158-G-C p.Leu304Val missense AKAP3 2 83106 2.40657E-5 41553 0 NA
12-4737160-G-GA p.Thr303fs frameshift AKAP3 2 83100 2.40674E-5 41550 0 NA
12-4737161-T-C p.Thr303Ala missense AKAP3 1 83100 1.20337E-5 41550 0 NA
12-4737161-TCTTC-T p.Met301fs frameshift AKAP3 2 83100 2.40674E-5 41550 0 NA
12-4737165-C-T p.Met301Ile missense AKAP3 1 83124 1.20302E-5 41562 0 3.98384E-6
12-4737169-A-AG p.Ile300fs frameshift AKAP3 2 83118 2.40622E-5 41559 0 NA
12-4737170-T-C p.Ile300Val missense AKAP3 2 83118 2.40622E-5 41559 0 3.18532E-5
12-4737183-A-G p.Asp295Asp synonymous AKAP3 1 83084 1.2036E-5 41542 0 NA
12-4737190-A-G p.Val293Ala missense AKAP3 1 83106 1.20328E-5 41553 0 3.98073E-6
12-4737192-C-A p.Val292Val synonymous AKAP3 8 83092 9.62788E-5 41546 0 3.98127E-5
12-4737194-C-T p.Val292Met missense AKAP3 1 83098 1.2034E-5 41549 0 7.96197E-6
12-4737197-T-G p.Ser291Arg missense AKAP3 1 83118 1.20311E-5 41559 0 0.00125
12-4737198-G-A p.Asn290Asn synonymous AKAP3 1 83114 1.20317E-5 41557 0 3.98073E-6
12-4737206-A-G p.Tyr288His missense AKAP3 1 83132 1.20291E-5 41566 0 NA
12-4737207-G-A p.Thr287Thr synonymous AKAP3 3 83140 3.60837E-5 41570 0 7.96077E-6
12-4737210-C-T p.Met286Ile missense AKAP3 1 83140 1.20279E-5 41570 0 NA
12-4737216-C-A p.Gly284Gly synonymous AKAP3 2 83148 2.40535E-5 41574 0 2.47741E-5
12-4737219-T-C p.Glu283Glu synonymous AKAP3 4 83140 4.81116E-5 41570 0 NA
12-4737234-C-T p.Thr278Thr synonymous AKAP3 2 83170 2.40471E-5 41585 0 2.38789E-5
12-4737235-G-A p.Thr278Met missense AKAP3 3 83158 3.60759E-5 41579 0 6.60142E-5
12-4737262-C-T p.Arg269Gln missense AKAP3 4 83134 4.81151E-5 41567 0 3.58126E-5
12-4737270-C-CT p.Arg267fs frameshift AKAP3 9 83126 1.08269E-4 41563 0 4.94625E-5
12-4737280-C-T p.Arg263Gln missense AKAP3 3 83092 3.61046E-5 41546 0 4.12147E-5
12-4737281-G-A p.Arg263Trp missense AKAP3 2 83096 2.40685E-5 41548 0 1.27518E-4
12-4737288-G-A p.Phe260Phe synonymous AKAP3 3 83110 3.60967E-5 41555 0 8.24063E-6
12-4737288-G-T p.Phe260Leu missense AKAP3 3 83110 3.60967E-5 41555 0 7.56129E-5
12-4737291-C-G p.Arg259Ser missense AKAP3 2 83102 2.40668E-5 41551 0 3.18552E-5
12-4737302-C-T p.Glu256Lys missense AKAP3 1 83104 1.20331E-5 41552 0 NA
12-4737313-T-C p.Asp252Gly missense AKAP3 7 83098 8.42379E-5 41549 0 9.06185E-5
12-4737317-C-T p.Gly251Arg missense AKAP3 1 83108 1.20325E-5 41554 0 8.23818E-6
12-4737318-A-G p.Asn250Asn synonymous AKAP3 76186 82810 0.92001 41405 35313 0.92125
12-4737322-C-T p.Arg249His missense AKAP3 3 83100 3.61011E-5 41550 0 1.27356E-4
12-4737327-T-C p.Glu247Glu synonymous AKAP3 2 83118 2.40622E-5 41559 0 2.47133E-5
12-4737368-G-A p.Pro234Ser missense AKAP3 1 83172 1.20233E-5 41586 0 NA
12-4737385-T-C p.Gln228Arg missense AKAP3 1 83202 1.20189E-5 41601 0 NA
12-4737395-T-C p.Lys225Glu missense AKAP3 1 83224 1.20158E-5 41612 0 8.24158E-6
12-4737398-T-C p.Thr224Ala missense AKAP3 2 83224 2.40315E-5 41612 0 4.12099E-5
12-4737404-C-T p.Glu222Lys missense AKAP3 270 83228 0.0032441 41614 0 0.00388249
12-4737420-G-A p.Ser216Ser synonymous AKAP3 1 83220 1.20163E-5 41610 0 NA
12-4737440-G-C p.Pro210Ala missense AKAP3 1 83186 1.20213E-5 41593 0 NA
12-4737459-C-T p.Ser203Ser synonymous AKAP3 64946 82978 0.782689 41489 25624 0.796072
12-4737460-G-A p.Ser203Leu missense AKAP3 1 83168 1.20239E-5 41584 0 1.64756E-5
12-4737463-ACT-A p.Arg201fs frameshift AKAP3 4 83156 4.81024E-5 41578 0 NA
12-4737464-C-T p.Val202Ile missense AKAP3 1 83154 1.20259E-5 41577 0 7.95602E-6
12-4737482-G-A p.Pro196Ser missense AKAP3 4 83104 4.81325E-5 41552 0 3.18552E-5
12-4737488-T-C p.Lys194Glu missense AKAP3 7 83110 8.42257E-5 41555 0 3.82263E-4
12-4737489-G-A p.Asp193Asp synonymous AKAP3 1 83114 1.20317E-5 41557 0 8.23683E-6
12-4737490-T-A p.Asp193Val missense AKAP3 2 83114 2.40633E-5 41557 0 NA
12-4737501-A-T p.Asn189Lys missense AKAP3 1 83102 1.20334E-5 41551 0 NA
12-4737510-A-G p.Cys186Cys synonymous AKAP3 318 83124 0.00382561 41562 6 0.00774181
12-4737517-G-A p.Ser184Phe missense AKAP3 1 83148 1.20267E-5 41574 0 NA
12-4737521-C-T p.Val183Ile missense AKAP3 3 83158 3.60759E-5 41579 0 2.47109E-5
12-4737522-G-A p.Thr182Thr synonymous AKAP3 6 83152 7.2157E-5 41576 0 2.71833E-4
12-4737525-C-A p.Glu181Asp missense AKAP3 1 83160 1.2025E-5 41580 0 3.97836E-6
12-4737530-T-A p.Asn180Tyr missense AKAP3 1 83176 1.20227E-5 41588 0 8.23723E-6
12-4737537-C-T p.Glu177Glu synonymous AKAP3 1 83186 1.20213E-5 41593 0 NA
12-4737547-A-G p.Ile174Thr missense AKAP3 2 83212 2.4035E-5 41606 0 NA
12-4737565-G-C p.Thr168Ser missense AKAP3 1 83256 1.20111E-5 41628 0 NA
12-4737585-C-T p.Met161Ile missense+splice_region AKAP3 1 83284 1.20071E-5 41642 0 8.2371E-6
12-4737587-T-C p.Met161Val missense AKAP3 4 83280 4.80307E-5 41640 0 4.11848E-5
12-4737594-T-C p.Ser158Ser synonymous AKAP3 1 83280 1.20077E-5 41640 0 NA
12-4737598-T-C p.Gln157Arg missense AKAP3 5 83276 6.00413E-5 41638 0 5.56837E-5
12-4737601-T-C p.Tyr156Cys missense AKAP3 2 83270 2.40183E-5 41635 0 3.18471E-5
12-4737603-G-C p.Val155Val synonymous AKAP3 1 83270 1.20091E-5 41635 0 3.97728E-6
12-4737614-T-C p.Asn152Asp missense AKAP3 1 83262 1.20103E-5 41631 0 NA
12-4737620-A-G p.Ser150Pro missense AKAP3 8 83260 9.60846E-5 41630 0 6.37105E-5
12-4737626-C-T p.Asp148Asn missense AKAP3 1 83254 1.20114E-5 41627 0 7.95412E-6
12-4737633-C-CTCA p.Asn144_Glu145insAsp disruptive_inframe_insertion AKAP3 1 83258 1.20109E-5 41629 0 NA
12-4737641-T-A p.Ile143Phe missense AKAP3 1 83242 1.20132E-5 41621 0 NA
12-4737647-T-C p.Lys141Glu missense AKAP3 1 83222 1.20161E-5 41611 0 NA
12-4737649-C-G p.Arg140Pro missense AKAP3 1 83216 1.20169E-5 41608 0 NA
12-4737649-C-A p.Arg140Leu missense AKAP3 2 83216 2.40338E-5 41608 0 NA
12-4737649-C-T p.Arg140His missense AKAP3 3 83216 3.60508E-5 41608 0 3.29468E-5
12-4737650-G-A p.Arg140Cys missense AKAP3 3 83208 3.60542E-5 41604 0 9.55779E-5
12-4737651-G-A p.Ala139Ala synonymous AKAP3 2 83200 2.40385E-5 41600 0 NA
12-4737657-G-A p.Ala137Ala synonymous AKAP3 1 83184 1.20215E-5 41592 0 NA
12-4737661-A-G p.Ile136Thr missense AKAP3 1 83154 1.20259E-5 41577 0 8.23642E-6
12-4737666-T-C p.Leu134Leu synonymous AKAP3 9 83136 1.08256E-4 41568 0 7.16144E-5
12-4737673-G-A p.Thr132Met missense AKAP3 6 83086 7.22143E-5 41543 0 1.4326E-4
12-4737679-C-T p.Arg130His missense AKAP3 1 83022 1.2045E-5 41511 0 3.1839E-5
12-4737680-G-A p.Arg130Cys missense AKAP3 2 83010 2.40935E-5 41505 0 5.03525E-4
12-4737704-C-A p.Asp122Tyr missense AKAP3 17 82658 2.05667E-4 41329 0 0.00100705
12-4737704-C-G p.Asp122His missense AKAP3 1 82658 1.2098E-5 41329 0 NA
12-4737704-C-T p.Asp122Asn missense AKAP3 1 82656 1.20983E-5 41328 0 NA
12-4737708-T-G p.Ser120Ser synonymous AKAP3 176 82570 0.00213152 41285 0 0.004375
12-4737715-C-T p.Gly118Glu missense AKAP3 63932 81814 0.781431 40907 25183 0.792548
12-4737717-G-A p.Asn117Asn synonymous AKAP3 1 82304 1.21501E-5 41152 0 4.12038E-5
12-4737725-G-A p.Leu115Phe missense AKAP3 1 82026 1.21913E-5 41013 0 NA
12-4737727-T-C p.Gln114Arg missense AKAP3 4 81956 4.88067E-5 40978 0 5.03525E-4
12-4737729-G-A p.Ala113Ala synonymous AKAP3 1 81898 1.22103E-5 40949 0 NA
12-4737731-C-T p.Ala113Thr missense AKAP3 1 81862 1.22157E-5 40931 0 NA
12-4737736-G-A p.Pro111Leu missense AKAP3 34 81864 4.15323E-4 40932 1 0.00108253
12-4737749-G-T p.Pro107Thr missense AKAP3 4 81906 4.88365E-5 40953 0 NA
12-4737760-T-C p.His103Arg missense AKAP3 1 82104 1.21797E-5 41052 0 3.18431E-5
12-4737764-T-C p.Thr102Ala missense AKAP3 1 82188 1.21672E-5 41094 0 3.18451E-5
12-4737767-T-C p.Met101Val missense AKAP3 1 82282 1.21533E-5 41141 0 5.57711E-5
12-4737771-A-T p.Phe99Leu missense AKAP3 1 82420 1.2133E-5 41210 0 1.64848E-5
12-4737777-C-T p.Leu97Leu synonymous AKAP3 1 82616 1.21042E-5 41308 0 NA
12-4737808-T-G p.Asn87Thr missense AKAP3 314 83182 0.00377486 41591 5 0.00777268
12-4737816-G-A p.Asp84Asp synonymous AKAP3 1 83210 1.20178E-5 41605 0 NA
12-4737817-T-C p.Asp84Gly missense AKAP3 4 83216 4.80677E-5 41608 0 8.24008E-6
12-4737825-G-T p.Phe81Leu missense AKAP3 11 83234 1.32158E-4 41617 0 0.004375
12-4737832-T-C p.Lys79Arg missense AKAP3 3 83252 3.60352E-5 41626 0 3.18573E-5
12-4737840-G-A p.Asp76Asp synonymous AKAP3 1 83276 1.20083E-5 41638 0 NA
12-4737855-C-T p.Thr71Thr synonymous AKAP3 1 83268 1.20094E-5 41634 0 3.18634E-5
12-4737856-G-T p.Thr71Lys missense AKAP3 1 83264 1.201E-5 41632 0 NA
12-4737869-A-G p.Phe67Leu missense AKAP3 1 83244 1.20129E-5 41622 0 NA
12-4737878-C-T p.Gly64Arg missense AKAP3 2 83196 2.40396E-5 41598 0 9.55657E-5
12-4737879-G-A p.Pro63Pro synonymous AKAP3 1 83186 1.20213E-5 41593 0 1.64856E-5
12-4737880-G-C p.Pro63Arg missense AKAP3 1 83182 1.20218E-5 41591 0 1.59454E-5
12-4737890-G-A p.Arg60Trp missense AKAP3 1 83100 1.20337E-5 41550 0 1.64916E-5
12-4737892-A-G p.Val59Ala missense AKAP3 2 83102 2.40668E-5 41551 0 3.29804E-5
12-4737895-T-A p.Asp58Val missense AKAP3 1 83090 1.20351E-5 41545 0 3.18431E-5
12-4737900-G-A p.Phe56Phe synonymous AKAP3 492 83022 0.00592614 41511 3 0.0040004
12-4737908-C-T p.Ala54Thr missense AKAP3 2 82956 2.41092E-5 41478 0 NA
12-4737931-C-T p.Arg46His missense AKAP3 2 82596 2.42142E-5 41298 0 3.18512E-5
12-4737937-C-T p.Trp44* stop_gained AKAP3 10 82544 1.21148E-4 41272 0 1.16443E-4
12-4737939-G-C p.Ser43Arg missense AKAP3 1 82478 1.21244E-5 41239 0 4.01439E-6
12-4737944-G-A p.Leu42Phe missense AKAP3 1 82390 1.21374E-5 41195 0 NA
12-4737946-A-T p.Val41Glu missense AKAP3 1 82344 1.21442E-5 41172 0 6.36821E-5
12-4737955-G-T p.Pro38His missense AKAP3 1 82230 1.2161E-5 41115 0 NA
12-4737960-C-T p.Thr36Thr synonymous AKAP3 3 82072 3.65533E-5 41036 0 5.08414E-5
12-4737962-T-C p.Thr36Ala missense AKAP3 1 81938 1.22043E-5 40969 0 NA
12-4737967-G-C p.Thr34Ser missense AKAP3 1 81594 1.22558E-5 40797 0 6.36862E-5
12-4747261-C-T c.96+6G>A splice_region AKAP3 3 82398 3.64087E-5 41199 0 3.97861E-6
12-4747278-C-A p.Asp29Tyr missense AKAP3 1 82584 1.21089E-5 41292 0 NA
12-4747298-G-A p.Pro22Leu missense AKAP3 2 82736 2.41733E-5 41368 0 2.47255E-5
12-4747304-T-G p.Tyr20Ser missense AKAP3 1 82768 1.2082E-5 41384 0 NA
12-4747304-T-C p.Tyr20Cys missense AKAP3 2 82768 2.41639E-5 41384 0 3.98175E-6
12-4747306-G-A p.Val19Val synonymous AKAP3 1 82788 1.2079E-5 41394 0 8.24498E-6
12-4747319-C-T p.Cys15Tyr missense AKAP3 7 82826 8.45145E-5 41413 0 6.25E-4
12-4747327-A-G p.Asn12Asn synonymous AKAP3 1 82772 1.20814E-5 41386 0 1.65341E-5
12-4747334-C-T p.Ser10Asn missense AKAP3 2 82770 2.41633E-5 41385 0 3.18573E-5
12-4747336-T-C p.Gln9Gln synonymous AKAP3 1 82762 1.20828E-5 41381 0 3.18634E-5
12-4747351-C-A p.Lys4Asn missense AKAP3 1 82624 1.2103E-5 41312 0 NA
12-4747364-T-C c.1-2A>G splice_acceptor AKAP3 1 82418 1.21333E-5 41209 0 4.15987E-6
12-4751085-G-C c.-21C>G 5_prime_UTR_premature_start_codon_gain AKAP3 9 2940 0.00306122 1470 0 0.0143285
12-4758144-C-T c.-456G>A 5_prime_UTR_premature_start_codon_gain AKAP3 2 77114 2.59356E-5 38557 0 3.1837E-5
12-4758179-G-A c.-491C>T 5_prime_UTR_premature_start_codon_gain AKAP3 1 80220 1.24657E-5 40110 0 NA