Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-49955612-A-G p.Ala852Ala synonymous AKAP4 1 81196 1.23159E-5 40598 0 1.16394E-5
X-49955614-C-T p.Ala852Thr missense AKAP4 121 81060 0.00149272 40530 21 0.00421441
X-49955626-C-T p.Asp848Asn missense AKAP4 7 81430 8.59634E-5 40715 2 2.34346E-4
X-49955638-T-G p.Lys844Gln missense AKAP4 9 81674 1.10194E-4 40837 2 1.1433E-5
X-49955652-C-T p.Gly839Glu missense AKAP4 3 81734 3.67044E-5 40867 1 5.49345E-6
X-49955670-T-C p.Gln833Arg missense AKAP4 6 81666 7.347E-5 40833 1 4.56163E-5
X-49955673-C-T p.Arg832Gln missense AKAP4 5 81662 6.1228E-5 40831 1 6.87758E-4
X-49955674-G-A p.Arg832Trp missense AKAP4 6 81674 7.34628E-5 40837 0 9.24214E-5
X-49955695-C-T p.Val825Ile missense AKAP4 1 81628 1.22507E-5 40814 0 NA
X-49955709-C-A p.Gly820Val missense AKAP4 1 81536 1.22645E-5 40768 0 NA
X-49955717-A-T p.Ser817Arg missense AKAP4 3 81464 3.68261E-5 40732 1 NA
X-49955729-C-T p.Glu813Glu synonymous AKAP4 1234 81306 0.0151772 40653 280 0.0318866
X-49955735-T-C p.Ala811Ala synonymous AKAP4 4 81190 4.92671E-5 40595 1 NA
X-49955765-G-C c.2410-7C>G splice_region AKAP4 2 80062 2.49806E-5 40031 1 9.18822E-5
X-49955766-G-A c.2410-8C>T splice_region AKAP4 1 80066 1.24897E-5 40033 0 4.59263E-5
X-49956987-A-G p.Phe793Leu missense AKAP4 4 82144 4.8695E-5 41072 1 5.57797E-5
X-49957008-A-G p.Phe786Leu missense AKAP4 3 82240 3.64786E-5 41120 1 1.72028E-5
X-49957009-C-A p.Gln785His missense AKAP4 28 82248 3.40434E-4 41124 7 0.00207182
X-49957052-T-G p.Gln771Pro missense AKAP4 6 82100 7.30816E-5 41050 1 1.40627E-4
X-49957086-T-A p.Ile760Phe missense AKAP4 3 81994 3.6588E-5 40997 1 NA
X-49957094-T-C p.His757Arg missense AKAP4 1 81962 1.22008E-5 40981 0 4.55581E-5
X-49957095-G-T p.His757Asn missense AKAP4 1 81956 1.22017E-5 40978 0 1.58155E-5
X-49957103-G-A p.Ser754Phe missense AKAP4 2 81952 2.44045E-5 40976 0 NA
X-49957114-G-A p.Asn750Asn synonymous AKAP4 2 81864 2.44308E-5 40932 0 2.99599E-5
X-49957117-C-G p.Gln749His missense AKAP4 1 81844 1.22184E-5 40922 0 NA
X-49957138-A-G p.Ile742Ile synonymous AKAP4 2 81668 2.44894E-5 40834 1 NA
X-49957139-A-G p.Ile742Thr missense AKAP4 3 81654 3.67404E-5 40827 0 1.77875E-4
X-49957140-T-C p.Ile742Val missense AKAP4 2 81642 2.44972E-5 40821 0 2.72848E-5
X-49957140-T-G p.Ile742Leu missense AKAP4 2 81642 2.44972E-5 40821 1 5.55617E-6
X-49957153-C-T p.Arg737Arg synonymous AKAP4 4 81396 4.91425E-5 40698 0 6.88231E-4
X-49957161-T-C p.Asn735Asp missense AKAP4 2 81352 2.45845E-5 40676 1 NA
X-49957173-C-G p.Ala731Pro missense AKAP4 3 81094 3.69941E-5 40547 1 1.76028E-4
X-49957197-C-T p.Glu723Lys missense AKAP4 2 80668 2.4793E-5 40334 1 NA
X-49957208-G-T p.Ala719Glu missense AKAP4 2 80422 2.48688E-5 40211 0 3.44677E-5
X-49957210-C-T p.Gly718Gly synonymous AKAP4 1 80426 1.24338E-5 40213 0 4.55913E-5
X-49957215-C-T p.Asp717Asn missense AKAP4 1 80450 1.24301E-5 40225 0 1.09705E-5
X-49957216-G-A p.Asn716Asn synonymous AKAP4 1222 80404 0.0151982 40202 278 0.0317286
X-49957216-G-T p.Asn716Lys missense AKAP4 1 80424 1.24341E-5 40212 0 NA
X-49957258-T-C p.Glu702Glu synonymous AKAP4 4 80856 4.94707E-5 40428 2 NA
X-49957260-C-A p.Glu702* stop_gained AKAP4 1 80914 1.23588E-5 40457 0 NA
X-49957265-A-G p.Leu700Pro missense AKAP4 1 81018 1.23429E-5 40509 0 NA
X-49957285-G-A p.Asn693Asn synonymous AKAP4 6 81718 7.34232E-5 40859 2 2.5733E-4
X-49957289-G-A p.Ala692Val missense AKAP4 1 81854 1.22169E-5 40927 0 1.64246E-5
X-49957314-C-T p.Asp684Asn missense AKAP4 1 82360 1.21418E-5 41180 0 1.81752E-4
X-49957322-T-C p.Gln681Arg missense AKAP4 2 82466 2.42524E-5 41233 0 4.54153E-5
X-49957339-T-A p.Glu675Asp missense AKAP4 7 82610 8.47355E-5 41305 2 4.57441E-5
X-49957342-T-A p.Glu674Asp missense AKAP4 2 82638 2.42019E-5 41319 0 2.28681E-5
X-49957345-C-T p.Ala673Ala synonymous AKAP4 2 82624 2.4206E-5 41312 0 1.02943E-4
X-49957346-G-C p.Ala673Gly missense AKAP4 2257 82610 0.0273211 41305 574 0.0587351
X-49957346-G-A p.Ala673Val missense AKAP4 23 82632 2.78343E-4 41316 6 0.004375
X-49957361-T-C p.Asn668Ser missense AKAP4 2 82662 2.41949E-5 41331 1 4.51875E-5
X-49957401-A-G p.Cys655Arg missense AKAP4 1 82508 1.212E-5 41254 0 NA
X-49957402-CTTG-C p.Asn653del disruptive_inframe_deletion AKAP4 1 82512 1.21194E-5 41256 0 NA
X-49957405-G-A p.Asn653Asn synonymous AKAP4 2 82498 2.4243E-5 41249 1 1.59759E-4
X-49957435-G-C p.Phe643Leu missense AKAP4 2 82436 2.42612E-5 41218 1 5.45589E-6
X-49957462-A-T p.Ile634Ile synonymous AKAP4 1 82598 1.21068E-5 41299 0 NA
X-49957466-A-C p.Leu633Arg missense AKAP4 11 82594 1.33182E-4 41297 3 2.50858E-4
X-49957473-G-A p.Leu631Leu synonymous AKAP4 1 82638 1.2101E-5 41319 0 NA
X-49957476-C-T p.Val630Ile missense AKAP4 7 82638 8.47068E-5 41319 2 7.63692E-5
X-49957498-C-G p.Gln622His missense AKAP4 1 82634 1.21016E-5 41317 0 NA
X-49957510-G-T p.His618Gln missense AKAP4 1 82584 1.21089E-5 41292 0 NA
X-49957512-G-A p.His618Tyr missense AKAP4 2 82626 2.42055E-5 41313 1 4.54587E-5
X-49957523-T-C p.Lys614Arg missense AKAP4 13 82606 1.57374E-4 41303 3 1.81975E-4
X-49957529-C-T p.Cys612Tyr missense AKAP4 1 82578 1.21098E-5 41289 0 5.45652E-6
X-49957620-T-C p.Thr582Ala missense AKAP4 1 82750 1.20846E-5 41375 0 4.58358E-5
X-49957622-C-T p.Ser581Asn missense AKAP4 2 82778 2.4161E-5 41389 0 5.45628E-6
X-49957631-A-G p.Met578Thr missense AKAP4 1 82776 1.20808E-5 41388 0 NA
X-49957631-A-C p.Met578Arg missense AKAP4 1 82776 1.20808E-5 41388 0 NA
X-49957640-A-G p.Met575Thr missense AKAP4 1 82820 1.20744E-5 41410 0 NA
X-49957643-G-T p.Thr574Asn missense AKAP4 1 82834 1.20723E-5 41417 0 NA
X-49957649-C-G p.Gly572Ala missense AKAP4 2 82830 2.41458E-5 41415 1 4.5648E-5
X-49957669-T-C p.Thr565Thr synonymous AKAP4 1 82872 1.20668E-5 41436 0 NA
X-49957679-C-A p.Gly562Val missense AKAP4 1 82770 1.20817E-5 41385 0 1.63908E-5
X-49957680-C-T p.Gly562Ser missense AKAP4 4 82768 4.83279E-5 41384 2 NA
X-49957706-T-C p.Gln553Arg missense AKAP4 101 82660 0.00122187 41330 24 0.00268829
X-49957713-G-A p.Leu551Leu synonymous AKAP4 1 82540 1.21153E-5 41270 0 5.46159E-6
X-49957715-T-G p.Lys550Thr missense AKAP4 36 82552 4.36089E-4 41276 8 0.00122923
X-49957729-A-T p.Ile545Ile synonymous AKAP4 2 82414 2.42677E-5 41207 0 3.82248E-5
X-49957746-G-C p.Leu540Val missense AKAP4 1 82206 1.21646E-5 41103 0 NA
X-49957752-C-A p.Asp538Tyr missense AKAP4 1 82146 1.21734E-5 41073 0 NA
X-49957755-T-C p.Thr537Ala missense AKAP4 2 82098 2.43611E-5 41049 1 1.14051E-5
X-49957756-G-GAAAGGGAATGTTCAACACTGTGACTTCAATT p.Thr537fs frameshift AKAP4 1 82092 1.21815E-5 41046 0 NA
X-49957768-C-T p.Lys532Lys synonymous AKAP4 219 81872 0.00267491 40936 54 0.010625
X-49957776-C-T p.Gly530Arg missense AKAP4 1 81740 1.22339E-5 40870 0 4.57101E-5
X-49957812-C-A p.Val518Leu missense AKAP4 13 81310 1.59882E-4 40655 3 NA
X-49957820-G-A p.Ser515Leu missense AKAP4 2 81348 2.45857E-5 40674 0 NA
X-49957824-T-G p.Asn514His missense AKAP4 2 81380 2.45761E-5 40690 1 5.47288E-6
X-49957855-C-G p.Glu503Asp missense AKAP4 17 81606 2.08318E-4 40803 2 5.47046E-4
X-49957868-T-C p.His499Arg missense AKAP4 2 81814 2.44457E-5 40907 1 NA
X-49957874-C-T p.Gly497Asp missense AKAP4 2 81866 2.44302E-5 40933 0 NA
X-49957876-G-A p.Val496Val synonymous AKAP4 2 81942 2.44075E-5 40971 1 4.56642E-5
X-49957890-T-C p.Ser492Gly missense AKAP4 1 82196 1.2166E-5 41098 0 4.56085E-5
X-49957892-G-A p.Thr491Ile missense AKAP4 4 82224 4.86476E-5 41112 1 3.42064E-5
X-49957909-G-A p.Asp485Asp synonymous AKAP4 9 82370 1.09263E-4 41185 1 2.18731E-5
X-49957915-T-C p.Lys483Lys synonymous AKAP4 1 82410 1.21345E-5 41205 0 5.46765E-6
X-49957966-T-C p.Glu466Glu synonymous AKAP4 8 82376 9.71157E-5 41188 1 4.57268E-5
X-49957969-A-G p.Leu465Leu synonymous AKAP4 3 82326 3.64405E-5 41163 1 4.57729E-5
X-49957985-C-A p.Cys460Phe missense AKAP4 4 82124 4.87068E-5 41062 2 NA
X-49958014-A-G p.Ser450Ser synonymous AKAP4 1 81686 1.2242E-5 40843 0 NA
X-49958023-T-C p.Ser447Ser synonymous AKAP4 10 81446 1.22781E-4 40723 3 0.00137552
X-49958041-A-G p.Thr441Thr synonymous AKAP4 3 81026 3.70252E-5 40513 0 9.13034E-5
X-49958047-C-A p.Lys439Asn missense AKAP4 1 80968 1.23506E-5 40484 0 1.14144E-5
X-49958062-A-G p.Leu434Leu synonymous AKAP4 1 80772 1.23805E-5 40386 0 NA
X-49958071-G-T p.Val431Val synonymous AKAP4 1 80734 1.23864E-5 40367 0 4.56517E-5
X-49958078-C-T p.Arg429His missense AKAP4 21 80668 2.60326E-4 40334 6 0.00137552
X-49958079-G-A p.Arg429Cys missense AKAP4 8 80688 9.91473E-5 40344 2 4.56564E-5
X-49958086-C-T p.Met426Ile missense AKAP4 4 80722 4.95528E-5 40361 1 5.48237E-6
X-49958092-C-T p.Glu424Glu synonymous AKAP4 5 80772 6.19026E-5 40386 1 1.6441E-5
X-49958095-C-T p.Met423Ile missense AKAP4 5 80868 6.18292E-5 40434 1 1.64378E-5
X-49958096-A-G p.Met423Thr missense AKAP4 6 80862 7.42005E-5 40431 0 2.72381E-4
X-49958109-C-T p.Ala419Thr missense AKAP4 1 81068 1.23353E-5 40534 0 NA
X-49958115-G-T p.Gln417Lys missense AKAP4 1 81096 1.23311E-5 40548 0 NA
X-49958148-C-T p.Ala406Thr missense AKAP4 1 81600 1.22549E-5 40800 0 NA
X-49958163-A-C p.Ser401Ala missense AKAP4 1 81816 1.22225E-5 40908 0 NA
X-49958171-A-C p.Met398Arg missense AKAP4 1 81916 1.22076E-5 40958 0 NA
X-49958173-C-T p.Leu397Leu synonymous AKAP4 6 81926 7.32368E-5 40963 2 6.01994E-5
X-49958176-G-A p.Val396Val synonymous AKAP4 1 81960 1.22011E-5 40980 0 NA
X-49958178-C-T p.Val396Ile missense AKAP4 1 81966 1.22002E-5 40983 0 NA
X-49958206-G-A p.Cys386Cys synonymous AKAP4 139 81980 0.00169554 40990 35 0.00195597
X-49958224-G-A p.Ser380Ser synonymous AKAP4 6 81884 7.32744E-5 40942 2 3.6513E-4
X-49958239-G-C p.Thr375Thr synonymous AKAP4 1 81756 1.22315E-5 40878 0 NA
X-49958250-G-A p.Leu372Leu synonymous AKAP4 3 81634 3.67494E-5 40817 1 NA
X-49958290-C-A p.Gly358Gly synonymous AKAP4 1 81330 1.22956E-5 40665 0 NA
X-49958297-C-T p.Ser356Asn missense AKAP4 1 81288 1.23019E-5 40644 0 NA
X-49958306-T-G p.Lys353Thr missense AKAP4 3 81300 3.69004E-5 40650 1 1.36308E-4
X-49958319-T-C p.Met349Val missense AKAP4 2 81242 2.46178E-5 40621 1 NA
X-49958364-T-A p.Met334Leu missense AKAP4 3 80992 3.70407E-5 40496 1 NA
X-49958368-C-T p.Gly332Gly synonymous AKAP4 1 80954 1.23527E-5 40477 0 6.88705E-4
X-49958387-G-T p.Ala326Glu missense AKAP4 4 80762 4.95282E-5 40381 2 5.60114E-5
X-49958389-A-G p.Phe325Phe synonymous AKAP4 1 80790 1.23778E-5 40395 0 5.59832E-6
X-49958422-G-T p.Asp314Glu missense AKAP4 2 80748 2.47684E-5 40374 1 NA
X-49958429-C-T p.Ser312Asn missense AKAP4 3 80868 3.70975E-5 40434 0 4.54897E-5
X-49958429-C-G p.Ser312Thr missense AKAP4 2 80868 2.47317E-5 40434 1 5.65931E-6
X-49958438-T-C p.Lys309Arg missense AKAP4 1 80986 1.23478E-5 40493 0 1.2997E-5
X-49958443-G-A p.Ser307Ser synonymous AKAP4 1 81094 1.23314E-5 40547 0 NA
X-49958451-C-T p.Glu305Lys missense AKAP4 1 81144 1.23238E-5 40572 0 1.29623E-5
X-49958452-G-A p.Ser304Ser synonymous AKAP4 1 81160 1.23213E-5 40580 0 NA
X-49958458-T-C p.Leu302Leu synonymous AKAP4 21 81434 2.57878E-4 40717 6 2.05823E-4
X-49958464-G-A p.Ser300Ser synonymous AKAP4 1 81612 1.22531E-5 40806 0 NA
X-49958477-C-T p.Gly296Asp missense AKAP4 355 81862 0.00433657 40931 96 0.00499977
X-49958477-C-G p.Gly296Ala missense AKAP4 1 81872 1.22142E-5 40936 0 NA
X-49958504-C-T p.Arg287His missense AKAP4 2 82260 2.43132E-5 41130 1 5.47241E-6
X-49958525-T-A p.Glu280Val missense AKAP4 8 82496 9.69744E-5 41248 1 4.59126E-5
X-49958532-C-T p.Ala278Thr missense AKAP4 1 82544 1.21148E-5 41272 0 NA
X-49958540-G-C p.Ala275Gly missense AKAP4 2 82544 2.42295E-5 41272 1 NA
X-49958553-C-A p.Ala271Ser missense AKAP4 1 82622 1.21033E-5 41311 0 NA
X-49958555-A-G p.Ile270Thr missense AKAP4 10 82616 1.21042E-4 41308 1 3.54318E-4
X-49958563-C-A p.Ala267Ala synonymous AKAP4 1 82616 1.21042E-5 41308 0 4.55456E-5
X-49958564-G-A p.Ala267Val missense AKAP4 17 82644 2.05702E-4 41322 5 1.7135E-4
X-49958573-C-T p.Arg264Gln missense AKAP4 3 82664 3.62915E-5 41332 1 3.42634E-5
X-49958583-T-G p.Ile261Leu missense AKAP4 1 82720 1.2089E-5 41360 0 4.5403E-5
X-49958600-G-A p.Pro255Leu missense AKAP4 1 82832 1.20726E-5 41416 0 2.72969E-5
X-49958609-C-G p.Cys252Ser missense AKAP4 1 82838 1.20718E-5 41419 0 NA
X-49958666-T-C p.His233Arg missense AKAP4 140 82936 0.00168805 41468 36 0.0017818
X-49958678-A-AACCAAAAGCAAGGAAAC p.Ile229fs frameshift AKAP4 1 82962 1.20537E-5 41481 0 NA
X-49958744-G-T p.Ser207Tyr missense AKAP4 3 83202 3.60568E-5 41601 1 NA
X-49958748-T-C p.Ile206Val missense AKAP4 1 83204 1.20187E-5 41602 0 NA
X-49958769-G-A p.Pro199Ser missense AKAP4 4 83262 4.80411E-5 41631 2 4.55965E-5
X-49958788-T-C c.541+8A>G splice_region AKAP4 1 83260 1.20106E-5 41630 0 5.45173E-6
X-49958793-G-T p.Pro191Thr missense AKAP4 2 83262 2.40206E-5 41631 0 5.45149E-6
X-49958803-A-G p.Asn187Asn synonymous AKAP4 3 83260 3.60317E-5 41630 1 NA
X-49958838-G-A p.Arg176Cys missense AKAP4 4 83212 4.807E-5 41606 1 1.14078E-5
X-49958880-G-C p.Gln162Glu missense AKAP4 3 83090 3.61054E-5 41545 1 3.44238E-5
X-49958883-C-T p.Asp161Asn missense AKAP4 13 83042 1.56547E-4 41521 3 7.86345E-4
X-49958915-G-C p.Ala150Gly missense AKAP4 11 82674 1.33053E-4 41337 3 1.8498E-4
X-49958920-G-A p.His148His synonymous AKAP4 1 82680 1.20948E-5 41340 0 NA
X-49958934-C-T p.Glu144Lys missense AKAP4 1 82458 1.21274E-5 41229 0 NA
X-49958936-GT-G p.Thr143fs frameshift AKAP4 1 82424 1.21324E-5 41212 0 NA
X-49958938-G-T p.Asp142Glu missense AKAP4 2 82368 2.42813E-5 41184 0 NA
X-49958939-T-TA p.Asp142fs frameshift AKAP4 1 82324 1.21471E-5 41162 0 NA
X-49958940-C-A p.Asp142Tyr missense AKAP4 1 82334 1.21457E-5 41167 0 NA
X-49958966-G-A p.Thr133Ile missense AKAP4 2 81940 2.44081E-5 40970 1 1.20162E-5
X-49958974-G-A p.Ser130Ser synonymous AKAP4 1 81690 1.22414E-5 40845 0 1.28066E-4
X-49958980-T-G p.Ala128Ala synonymous AKAP4 2 81736 2.4469E-5 40868 1 NA
X-49959000-C-A p.Ala122Ser missense AKAP4 4 81372 4.9157E-5 40686 1 NA
X-49959084-C-G n.393-1G>C splice_acceptor AKAP4 16 73362 2.18097E-4 36681 2 3.22321E-4
X-49959090-A-G c.277-3T>C splice_region AKAP4 1 72002 1.38885E-5 36001 0 NA
X-49959094-AAAG-A c.277-10_277-8delCTT splice_region AKAP4 1 71222 1.40406E-5 35611 0 4.66483E-5
X-49961535-A-G c.276+7T>C splice_region AKAP4 11 80900 1.3597E-4 40450 4 1.38292E-4
X-49961577-C-T p.Val81Met missense AKAP4 4 82186 4.86701E-5 41093 1 5.02163E-4
X-49961583-T-A p.Ile79Phe missense AKAP4 1 82304 1.21501E-5 41152 0 1.14114E-5
X-49961590-T-C p.Glu76Glu synonymous AKAP4 7 82356 8.49968E-5 41178 1 2.28204E-5
X-49961591-T-C p.Glu76Gly missense AKAP4 5 82358 6.07106E-5 41179 1 2.28206E-5
X-49961618-C-T p.Gly67Asp missense AKAP4 1 82234 1.21604E-5 41117 0 1.14125E-5
X-49961628-T-A p.Ser64Cys missense AKAP4 47 82082 5.72598E-4 41041 13 6.87758E-4
X-49961640-C-A p.Ala60Ser missense AKAP4 1 81796 1.22255E-5 40898 0 1.14433E-5
X-49961647-T-C c.175-4A>G splice_region AKAP4 66 81472 8.10094E-4 40736 17 6.84713E-4
X-49962190-C-T c.174+5G>A splice_region AKAP4 1 81628 1.22507E-5 40814 0 2.39071E-5
X-49962191-G-A c.174+4C>T splice_region AKAP4 31 81644 3.79697E-4 40822 8 9.27988E-4
X-49962197-T-C p.Lys58Glu missense+splice_region AKAP4 1 81800 1.22249E-5 40900 0 1.67516E-5
X-49962223-G-T p.Thr49Asn missense AKAP4 1 81840 1.2219E-5 40920 0 4.55955E-5
X-49962233-C-T p.Asp46Asn missense AKAP4 1 81592 1.22561E-5 40796 0 NA
X-49962236-C-G p.Val45Leu missense AKAP4 2 81578 2.45164E-5 40789 1 1.18689E-5
X-49963300-T-C c.123+8A>G splice_region AKAP4 11 81846 1.34399E-4 40923 2 2.53711E-4
X-49963302-T-C c.123+6A>G splice_region AKAP4 4 81934 4.88198E-5 40967 1 4.57896E-5
X-49963311-T-C p.Lys40Lys synonymous AKAP4 2 82164 2.43416E-5 41082 1 NA
X-49963315-C-T p.Arg39Gln missense AKAP4 7 82258 8.50981E-5 41129 1 6.25E-4
X-49963315-C-A p.Arg39Leu missense AKAP4 2 82260 2.43132E-5 41130 1 NA
X-49963320-C-T p.Gln37Gln synonymous AKAP4 3 82392 3.64113E-5 41196 1 1.28778E-5
X-49963323-A-G p.Asp36Asp synonymous AKAP4 37 82384 4.49116E-4 41192 8 5.6164E-4
X-49963352-C-T p.Asp27Asn missense AKAP4 2 82632 2.42037E-5 41316 1 1.24545E-5
X-49963354-A-G p.Val26Ala missense AKAP4 3 82616 3.63126E-5 41308 1 7.4785E-5
X-49963366-C-A p.Gly22Val missense AKAP4 1 82502 1.21209E-5 41251 0 1.25631E-5
X-49963368-C-T p.Arg21Arg synonymous AKAP4 1 82498 1.21215E-5 41249 0 NA
X-49963378-C-T p.Arg18His missense AKAP4 1 82280 1.21536E-5 41140 0 2.57725E-5
X-49963405-TG-T c.28-3delC splice_region AKAP4 1 81452 1.22772E-5 40726 0 NA
X-49965565-T-A c.-25A>T 5_prime_UTR_premature_start_codon_gain AKAP4 1 82100 1.21803E-5 41050 0 NA
X-49965616-T-A c.-76A>T 5_prime_UTR_premature_start_codon_gain AKAP4 1 78292 1.27727E-5 39146 0 NA
X-49965627-A-G c.-87T>C 5_prime_UTR_premature_start_codon_gain AKAP4 1 76422 1.30852E-5 38211 0 NA
X-49965647-G-T c.-107C>A 5_prime_UTR_premature_start_codon_gain AKAP4 1 72644 1.37658E-5 36322 0 NA