Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-64934822-A-G c.-291A>G 5_prime_UTR_premature_start_codon_gain AKAP5 1 8958 1.11632E-4 4479 0 NA
14-64934851-T-C c.-262T>C 5_prime_UTR_premature_start_codon_gain AKAP5 2 16762 1.19318E-4 8381 0 NA
14-64935017-T-G c.-96T>G 5_prime_UTR_premature_start_codon_gain AKAP5 580 76050 0.00762656 38025 1 0.0151284
14-64935085-T-G c.-28T>G 5_prime_UTR_premature_start_codon_gain AKAP5 2 82656 2.41967E-5 41328 0 NA
14-64935134-A-G p.Ile8Val missense AKAP5 1 83162 1.20247E-5 41581 0 NA
14-64935148-C-G p.Asn12Lys missense AKAP5 78 83192 9.3759E-4 41596 0 0.0125
14-64935160-G-C p.Lys16Asn missense AKAP5 10 83190 1.20207E-4 41595 0 1.51654E-4
14-64935160-G-A p.Lys16Lys synonymous AKAP5 1 83190 1.20207E-5 41595 0 1.68663E-5
14-64935186-C-A p.Ala25Asp missense AKAP5 4 83182 4.80873E-5 41591 0 8.34878E-6
14-64935192-G-A p.Arg27Lys missense AKAP5 6 83186 7.21275E-5 41593 0 3.33422E-5
14-64935192-G-C p.Arg27Thr missense AKAP5 1 83186 1.20213E-5 41593 0 3.98159E-6
14-64935200-G-A p.Glu30Lys missense AKAP5 1 83194 1.20201E-5 41597 0 NA
14-64935218-T-C p.Cys36Arg missense AKAP5 1 83178 1.20224E-5 41589 0 NA
14-64935227-A-G p.Arg39Gly missense AKAP5 1 83146 1.2027E-5 41573 0 NA
14-64935258-C-A p.Pro49His missense AKAP5 1 83054 1.20404E-5 41527 0 NA
14-64935270-C-G p.Ser53Cys missense AKAP5 5 83012 6.02323E-5 41506 0 6.3674E-5
14-64935287-G-T p.Ala59Ser missense AKAP5 1 82954 1.20549E-5 41477 0 NA
14-64935288-C-T p.Ala59Val missense AKAP5 2 82956 2.41092E-5 41478 0 7.97175E-6
14-64935312-G-A p.Gly67Glu missense AKAP5 3 82922 3.61786E-5 41461 0 1.74851E-4
14-64935327-C-T p.Pro72Leu missense AKAP5 1 82894 1.20636E-5 41447 0 3.18471E-5
14-64935331-G-A p.Glu73Glu synonymous AKAP5 1 82882 1.20653E-5 41441 0 NA
14-64935338-C-T p.Arg76Trp missense AKAP5 1 82852 1.20697E-5 41426 0 1.19941E-5
14-64935339-G-T p.Arg76Leu missense AKAP5 2 82866 2.41354E-5 41433 0 3.1988E-5
14-64935344-G-T p.Ala78Ser missense AKAP5 4 82860 4.82742E-5 41430 0 NA
14-64935362-C-T p.Arg84Cys missense AKAP5 1 82944 1.20563E-5 41472 0 3.1841E-5
14-64935370-A-C p.Val86Val synonymous AKAP5 1660 83018 0.0199957 41509 82 0.0434533
14-64935374-C-T p.Arg88Cys missense AKAP5 1 83038 1.20427E-5 41519 0 6.36821E-5
14-64935376-C-T p.Arg88Arg synonymous AKAP5 1 83034 1.20433E-5 41517 0 3.98924E-6
14-64935376-C-G p.Arg88Arg synonymous AKAP5 2 83034 2.40865E-5 41517 0 3.1914E-5
14-64935389-G-C p.Glu93Gln missense AKAP5 2 83124 2.40604E-5 41562 0 3.98743E-6
14-64935398-A-C p.Lys96Gln missense AKAP5 3 83158 3.60759E-5 41579 0 6.25E-4
14-64935411-C-T p.Pro100Leu missense AKAP5 10718 83066 0.12903 41533 790 0.145625
14-64935411-CA-TG p.Pro100Leu missense AKAP5 1 83194 1.20201E-5 41597 0 NA
14-64935418-G-A p.Glu102Glu synonymous AKAP5 1 83206 1.20184E-5 41603 0 3.58737E-5
14-64935437-A-G p.Ile109Val missense AKAP5 2 83194 2.40402E-5 41597 0 1.99217E-5
14-64935444-C-G p.Ala111Gly missense AKAP5 1 83180 1.20221E-5 41590 0 NA
14-64935456-A-T p.Asp115Val missense AKAP5 1 83168 1.20239E-5 41584 0 3.18512E-5
14-64935458-C-A p.Leu116Ile missense AKAP5 1 83160 1.2025E-5 41580 0 3.98444E-6
14-64935469-A-G p.Lys119Lys synonymous AKAP5 1 83176 1.20227E-5 41588 0 8.29876E-6
14-64935495-C-CAAAGG p.Cys129fs frameshift AKAP5 1 83196 1.20198E-5 41598 0 NA
14-64935517-G-C p.Gly135Gly synonymous AKAP5 4 83222 4.80642E-5 41611 0 5.03525E-4
14-64935520-A-G p.Pro136Pro synonymous AKAP5 14 83234 1.682E-4 41617 0 8.76955E-5
14-64935530-A-C p.Asn140His missense AKAP5 1 83216 1.20169E-5 41608 0 1.19541E-5
14-64935537-C-T p.Ser142Phe missense AKAP5 4 83212 4.807E-5 41606 0 3.9846E-6
14-64935549-A-G p.Glu146Gly missense AKAP5 1 83212 1.20175E-5 41606 0 NA
14-64935563-A-G p.Ser151Gly missense AKAP5 7 83206 8.41286E-5 41603 0 6.21427E-4
14-64935594-T-C p.Leu161Ser missense AKAP5 2 83210 2.40356E-5 41605 0 NA
14-64935610-G-C p.Gln166His missense AKAP5 2 83232 2.40292E-5 41616 0 1.65489E-5
14-64935657-T-C p.Leu182Pro missense AKAP5 1 83276 1.20083E-5 41638 0 NA
14-64935674-C-T p.Arg188Trp missense AKAP5 4 83282 4.80296E-5 41641 0 2.475E-5
14-64935675-G-A p.Arg188Gln missense AKAP5 1161 83268 0.0139429 41634 41 0.0288835
14-64935680-G-A p.Asp190Asn missense AKAP5 8 83280 9.60615E-5 41640 0 5.03525E-4
14-64935683-G-T p.Gly191Cys missense AKAP5 1 83290 1.20062E-5 41645 0 NA
14-64935688-T-C p.Asp192Asp synonymous AKAP5 1 83298 1.20051E-5 41649 0 8.24498E-6
14-64935712-C-A p.Ser200Arg missense AKAP5 1 83290 1.20062E-5 41645 0 NA
14-64935715-T-C p.Asn201Asn synonymous AKAP5 2 83286 2.40136E-5 41643 0 1.98863E-5
14-64935720-C-T p.Thr203Ile missense AKAP5 83112 83264 0.998174 41632 41485 0.998489
14-64935726-C-T p.Ser205Phe missense AKAP5 258 83284 0.00309783 41642 0 0.00299344
14-64935726-C-G p.Ser205Cys missense AKAP5 3 83284 3.60213E-5 41642 0 1.64791E-5
14-64935740-A-T p.Ile210Phe missense AKAP5 1 83290 1.20062E-5 41645 0 NA
14-64935764-A-G p.Asn218Asp missense AKAP5 1 83272 1.20088E-5 41636 0 3.1835E-5
14-64935778-T-C p.Ala222Ala synonymous AKAP5 1 83272 1.20088E-5 41636 0 NA
14-64935779-A-T p.Ile223Phe missense AKAP5 1 83276 1.20083E-5 41638 0 1.64946E-5
14-64935786-C-T p.Thr225Met missense AKAP5 1 83254 1.20114E-5 41627 0 3.18471E-5
14-64935787-G-A p.Thr225Thr synonymous AKAP5 1 83246 1.20126E-5 41623 0 3.18492E-5
14-64935791-A-AC p.Leu228fs frameshift AKAP5 1 83226 1.20155E-5 41613 0 NA
14-64935809-A-G p.Ile233Val missense AKAP5 3 83220 3.6049E-5 41610 0 7.9687E-6
14-64935816-C-G p.Thr235Arg missense AKAP5 4 83212 4.807E-5 41606 0 7.42979E-5
14-64935817-G-C p.Thr235Thr synonymous AKAP5 1 83208 1.20181E-5 41604 0 NA
14-64935869-T-G p.Ser253Ala missense AKAP5 1 83126 1.20299E-5 41563 0 NA
14-64935897-T-G p.Leu262Arg missense AKAP5 1 83158 1.20253E-5 41579 0 NA
14-64935908-C-A p.Pro266Thr missense AKAP5 1 83148 1.20267E-5 41574 0 7.95817E-6
14-64935926-C-T p.Pro272Ser missense AKAP5 1 83146 1.2027E-5 41573 0 1.65175E-5
14-64935943-GGAA-G p.Glu279del disruptive_inframe_deletion AKAP5 1 83114 1.20317E-5 41557 0 6.37227E-5
14-64935949-A-C p.Glu279Asp missense AKAP5 2 83128 2.40593E-5 41564 0 3.18532E-5
14-64935954-G-A p.Ser281Asn missense AKAP5 2 83116 2.40628E-5 41558 0 1.9913E-5
14-64935958-C-T p.Asn282Asn synonymous AKAP5 1 83108 1.20325E-5 41554 0 NA
14-64935972-G-A p.Ser287Asn missense AKAP5 1 83122 1.20305E-5 41561 0 NA
14-64935977-C-G p.Pro289Ala missense AKAP5 7 83128 8.42075E-5 41564 0 3.18674E-5
14-64935978-C-A p.Pro289Gln missense AKAP5 2 83146 2.40541E-5 41573 0 1.19684E-5
14-64935983-G-A p.Gly291Arg missense AKAP5 16 83162 1.92396E-4 41581 0 9.25756E-4
14-64935999-G-A p.Ser296Asn missense AKAP5 1 83182 1.20218E-5 41591 0 8.26105E-6
14-64936005-A-G p.Glu298Gly missense AKAP5 2 83190 2.40414E-5 41595 0 3.18431E-5
14-64936008-T-C p.Ile299Thr missense AKAP5 2 83198 2.4039E-5 41599 0 1.59747E-5
14-64936036-T-C p.Asp308Asp synonymous AKAP5 1 83250 1.2012E-5 41625 0 NA
14-64936042-A-G p.Glu310Glu synonymous AKAP5 1 83238 1.20137E-5 41619 0 3.99026E-6
14-64936052-G-A p.Glu314Lys missense AKAP5 328 83258 0.00393956 41629 3 0.00742653
14-64936079-A-G p.Thr323Ala missense AKAP5 1 83260 1.20106E-5 41630 0 NA
14-64936099-A-G p.Ser329Ser synonymous AKAP5 4 83256 4.80446E-5 41628 0 2.39046E-5
14-64936106-A-T p.Ser332Cys missense AKAP5 96 83252 0.00115313 41626 0 0.00151057
14-64936115-A-G p.Met335Val missense AKAP5 5 83252 6.00586E-5 41626 0 5.57951E-5
14-64936116-T-C p.Met335Thr missense AKAP5 3 83244 3.60386E-5 41622 0 NA
14-64936125-T-C p.Ile338Thr missense AKAP5 1 83248 1.20123E-5 41624 0 3.98705E-6
14-64936128-C-T p.Ala339Val missense AKAP5 2 83242 2.40263E-5 41621 0 4.38747E-5
14-64936137-T-C p.Ile342Thr missense AKAP5 1 83238 1.20137E-5 41619 0 NA
14-64936154-A-G p.Ser348Gly missense AKAP5 3 83220 3.6049E-5 41610 0 4.00333E-6
14-64936162-T-C p.Phe350Phe synonymous AKAP5 3 83214 3.60516E-5 41607 0 5.20758E-5
14-64936164-A-G p.Asp351Gly missense AKAP5 1 83206 1.20184E-5 41603 0 NA
14-64936181-A-C p.Asn357His missense AKAP5 3 83206 3.60551E-5 41603 0 NA
14-64936224-T-G p.Val371Gly missense AKAP5 2 83180 2.40442E-5 41590 0 NA
14-64936226-G-C p.Gly372Arg missense AKAP5 1 83188 1.2021E-5 41594 0 NA
14-64936247-G-A p.Gly379Ser missense AKAP5 2 83182 2.40437E-5 41591 0 2.47889E-5
14-64936247-G-C p.Gly379Arg missense AKAP5 2 83182 2.40437E-5 41591 0 7.43666E-5
14-64936253-G-C p.Glu381Gln missense AKAP5 2 83174 2.4046E-5 41587 0 4.95868E-5
14-64936255-G-C p.Glu381Asp missense AKAP5 6 83180 7.21327E-5 41590 0 1.59342E-5
14-64936259-A-G p.Arg383Gly missense AKAP5 1 83184 1.20215E-5 41592 0 8.26542E-6
14-64936276-T-C p.Tyr388Tyr synonymous AKAP5 1 83194 1.20201E-5 41597 0 5.03525E-4
14-64936283-C-T p.Leu391Phe missense AKAP5 5 83184 6.01077E-5 41592 0 4.96278E-5
14-64936285-C-T p.Leu391Leu synonymous AKAP5 1 83180 1.20221E-5 41590 0 NA
14-64936286-T-C p.Leu392Leu synonymous AKAP5 468 83170 0.00562703 41585 6 0.0119776
14-64936297-A-T p.Thr395Thr synonymous AKAP5 3 83164 3.60733E-5 41582 0 3.31076E-5
14-64936306-T-G p.Ser398Ser synonymous AKAP5 1 83176 1.20227E-5 41588 0 NA
14-64936307-C-G p.Leu399Val missense AKAP5 1 83174 1.2023E-5 41587 0 NA
14-64936322-A-C p.Ile404Leu missense AKAP5 1 83176 1.20227E-5 41588 0 NA
14-64936328-T-C p.Leu406Leu synonymous AKAP5 1 83184 1.20215E-5 41592 0 NA
14-64936334-A-G p.Ile408Val missense AKAP5 2 83184 2.40431E-5 41592 0 1.66353E-5
14-64936355-A-G p.Met415Val missense AKAP5 3 83186 3.60638E-5 41593 0 3.80695E-5
14-64936358-G-A p.Ala416Thr missense AKAP5 1 83180 1.20221E-5 41590 0 NA
14-64936359-CCT-C p.Ser417fs frameshift AKAP5 1 83180 1.20221E-5 41590 0 NA
14-64936360-C-T p.Ala416Ala synonymous AKAP5 184 83174 0.00221223 41587 0 0.00292975
14-64936369-TAATAA-T p.Ile422fs frameshift AKAP5 3 83166 3.60724E-5 41583 0 1.7552E-5
14-64941220-C-A c.*4824C>A splice_region AKAP5 1 41496 2.40987E-5 20748 0 NA