Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-119029955-A-G c.-124+5A>G splice_region AKAP14 1 2954 3.38524E-4 1477 0 NA
X-119030229-C-T c.-12C>T 5_prime_UTR_premature_start_codon_gain AKAP14 4 2942 0.00135962 1471 0 0.00134677
X-119037174-C-CA c.-10-3_-10-2insA splice_acceptor AKAP14 1 81824 1.22214E-5 40912 0 NA
X-119037175-AG-A c.-10-1delG splice_acceptor AKAP14 1 81868 1.22148E-5 40934 0 NA
X-119037197-C-T p.Thr4Ile missense AKAP14 1 82578 1.21098E-5 41289 0 NA
X-119037213-C-A p.Ser9Arg missense AKAP14 1 82800 1.20773E-5 41400 0 1.11329E-5
X-119037216-G-C p.Gln10His missense AKAP14 2 82862 2.41365E-5 41431 1 NA
X-119037223-A-G p.Met13Val missense AKAP14 2 82918 2.41202E-5 41459 1 4.53227E-5
X-119037231-G-A p.Glu15Glu synonymous AKAP14 3 82948 3.61672E-5 41474 1 4.53865E-5
X-119037260-C-T p.Pro25Leu missense AKAP14 14 83054 1.68565E-4 41527 2 3.63488E-4
X-119037282-C-T p.Tyr32Tyr synonymous AKAP14 2 83074 2.40749E-5 41537 1 1.63618E-5
X-119037283-G-A p.Glu33Lys missense AKAP14 1 83080 1.20366E-5 41540 0 1.14103E-5
X-119037297-T-C p.Thr37Thr synonymous AKAP14 50 83082 6.01815E-4 41541 12 7.30671E-4
X-119037320-A-G p.Glu45Gly missense AKAP14 1 83110 1.20322E-5 41555 0 1.1414E-5
X-119037348-T-A p.Ile54Ile synonymous AKAP14 1 83094 1.20346E-5 41547 0 NA
X-119037463-C-A p.Arg59Arg synonymous AKAP14 1 83168 1.20239E-5 41584 0 NA
X-119037464-G-A p.Arg59Gln missense AKAP14 1 83174 1.2023E-5 41587 0 NA
X-119037487-T-A p.Trp67Arg missense AKAP14 3 83190 3.6062E-5 41595 1 5.45051E-6
X-119037493-A-G p.Thr69Ala missense AKAP14 3 83178 3.60672E-5 41589 1 NA
X-119037494-C-T p.Thr69Ile missense AKAP14 1 83170 1.20236E-5 41585 0 NA
X-119037498-C-T p.His70His synonymous AKAP14 6 83146 7.21622E-5 41573 2 5.9971E-5
X-119037509-C-A p.Thr74Asn missense AKAP14 1 83140 1.20279E-5 41570 0 NA
X-119037537-C-T p.Asp83Asp synonymous AKAP14 3 83004 3.61428E-5 41502 1 1.21865E-5
X-119037539-A-T p.Glu84Val missense AKAP14 1 82980 1.20511E-5 41490 0 NA
X-119037548-C-T p.Ser87Leu missense+splice_region AKAP14 1 82888 1.20645E-5 41444 0 6.88231E-4
X-119037584-G-T p.Pro88Pro splice_region+synonymous AKAP14 2 82252 2.43155E-5 41126 1 5.82187E-6
X-119048666-G-A p.Cys89Tyr missense AKAP14 2 81564 2.45206E-5 40782 0 NA
X-119048673-T-TA p.Cys94fs frameshift AKAP14 1 81846 1.22181E-5 40923 0 NA
X-119048700-G-A p.Glu100Glu synonymous AKAP14 1 82430 1.21315E-5 41215 0 NA
X-119048703-T-C p.Phe101Phe synonymous AKAP14 4 82424 4.85296E-5 41212 2 NA
X-119048705-T-C p.Val102Ala missense AKAP14 3 82450 3.63857E-5 41225 0 2.28781E-5
X-119048718-C-A p.Asp106Glu missense AKAP14 11 82490 1.3335E-4 41245 1 0.00137836
X-119048727-C-T p.His109His synonymous AKAP14 1 82522 1.2118E-5 41261 0 NA
X-119048733-C-T p.Phe111Phe synonymous AKAP14 1 82536 1.21159E-5 41268 0 1.14045E-5
X-119048736-C-T p.Leu112Leu synonymous AKAP14 2 82532 2.4233E-5 41266 1 NA
X-119048740-A-G p.Ile114Val missense AKAP14 2 82514 2.42383E-5 41257 0 NA
X-119048753-A-G p.His118Arg missense AKAP14 1 82508 1.212E-5 41254 0 NA
X-119048763-C-T p.Ile121Ile synonymous AKAP14 4 82516 4.84754E-5 41258 1 5.45319E-6
X-119048771-C-A p.Ala124Asp missense AKAP14 1 82520 1.21183E-5 41260 0 NA
X-119048781-C-T p.Pro127Pro synonymous AKAP14 4 82458 4.85095E-5 41229 1 0.00138122
X-119048782-G-A p.Val128Ile missense AKAP14 8 82440 9.70403E-5 41220 2 9.15835E-5
X-119048786-C-G p.Ala129Gly missense AKAP14 861 82420 0.0104465 41210 229 0.025
X-119048789-G-T p.Arg130Leu missense AKAP14 2 82366 2.42819E-5 41183 1 NA
X-119048791-A-G p.Ile131Val missense AKAP14 1 82370 1.21403E-5 41185 0 5.46326E-6
X-119048795-C-T p.Ser132Phe missense AKAP14 5 82382 6.06929E-5 41191 1 2.28357E-5
X-119048796-T-C p.Ser132Ser synonymous AKAP14 1 82362 1.21415E-5 41181 0 5.46526E-6
X-119048798-C-T p.Ala133Val missense AKAP14 3 82348 3.64308E-5 41174 0 9.13878E-5
X-119048804-C-A p.Thr135Asn missense AKAP14 14 82282 1.70147E-4 41141 2 6.85887E-5
X-119048840-C-T p.Pro147Leu missense+splice_region AKAP14 29 81552 3.55601E-4 40776 1 9.65428E-4
X-119048846-G-A c.441+5G>A splice_region AKAP14 3 81432 3.68406E-5 40716 1 5.70353E-6
X-119053867-T-G c.262-7T>G splice_region AKAP14 80 81176 9.85513E-4 40588 19 0.00234369
X-119053871-T-C c.262-3T>C splice_region AKAP14 2 81258 2.4613E-5 40629 1 4.58106E-5
X-119053877-G-A p.Ala89Thr missense AKAP14 4 81338 4.91775E-5 40669 2 4.60342E-5
X-119053881-C-T p.Pro90Leu missense AKAP14 2 81324 2.4593E-5 40662 1 5.47079E-6
X-119054466-T-G c.315-5T>G splice_region AKAP14 2 80580 2.48201E-5 40290 1 3.52237E-5
X-119054484-C-T p.Arg110Cys missense AKAP14 1 81342 1.22938E-5 40671 0 2.30489E-5
X-119054488-T-C p.Phe111Ser missense AKAP14 3 81496 3.68116E-5 40748 0 2.74281E-5
X-119054536-T-C p.Met127Thr missense AKAP14 2 81578 2.45164E-5 40789 0 NA
X-119054567-C-G p.Val137Val synonymous AKAP14 9 80468 1.11846E-4 40234 0 5.01025E-4