Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-55162761-T-TGTAATTACTCAAGCCTCC c.-25+2_-25+3insGTAATTACTCAAGCCTCC splice_region AKAP1 1 86 0.0116279 43 0 NA
17-55163250-C-T c.-375C>T 5_prime_UTR_premature_start_codon_gain AKAP1 9 86 0.104651 43 0 0.0831792
17-55163385-C-G c.-240C>G 5_prime_UTR_premature_start_codon_gain AKAP1 70 1254 0.0558214 627 0 0.0838761
17-55163637-G-A c.-286G>A 5_prime_UTR_premature_start_codon_gain AKAP1 4 7460 5.36193E-4 3730 0 7.00726E-4
17-55163792-C-T c.-131C>T 5_prime_UTR_premature_start_codon_gain AKAP1 3 11120 2.69784E-4 5560 0 4.63535E-4
17-55163896-CAGGTGCG-C c.-26_-25+5delAGGTGCG splice_donor AKAP1 1 9700 1.03093E-4 4850 0 6.37308E-5
17-55182790-TGCTCTCCC-T c.-24-11_-24-4delGCTCTCCC splice_region AKAP1 1 82282 1.21533E-5 41141 0 NA
17-55182842-G-A p.Arg6His missense AKAP1 5 83228 6.00759E-5 41614 0 1.99102E-5
17-55182845-C-T p.Ser7Leu missense+splice_region AKAP1 4 83220 4.80654E-5 41610 0 2.47166E-5
17-55182846-G-A p.Ser7Ser splice_region+synonymous AKAP1 62 83228 7.44942E-4 41614 0 0.001875
17-55182848-T-C p.Leu8Pro missense AKAP1 2 83234 2.40286E-5 41617 0 NA
17-55182849-C-A p.Leu8Leu synonymous AKAP1 1 83242 1.20132E-5 41621 0 5.03525E-4
17-55182853-C-T p.Pro10Ser missense AKAP1 2 83252 2.40234E-5 41626 0 4.94389E-5
17-55182867-T-A p.Pro14Pro synonymous AKAP1 2 83250 2.4024E-5 41625 0 3.97829E-6
17-55182878-C-T p.Ala18Val missense AKAP1 7651 83078 0.0920942 41539 382 0.0952867
17-55182879-GCTC-G p.Leu20del conservative_inframe_deletion AKAP1 2 83222 2.40321E-5 41611 0 9.56023E-5
17-55182882-C-T p.Leu19Leu synonymous AKAP1 2 83220 2.40327E-5 41610 0 3.97791E-6
17-55182885-C-T p.Leu20Leu synonymous AKAP1 3 83222 3.60482E-5 41611 0 5.03525E-4
17-55182886-G-A p.Gly21Ser missense AKAP1 8 83218 9.61331E-5 41609 0 5.27635E-4
17-55182899-T-C p.Phe25Ser missense AKAP1 1 83220 1.20163E-5 41610 0 NA
17-55182903-C-T p.Phe26Phe synonymous AKAP1 1 83210 1.20178E-5 41605 0 NA
17-55182907-C-T p.Arg28Cys missense AKAP1 1 83196 1.20198E-5 41598 0 2.38776E-5
17-55182908-G-A p.Arg28His missense AKAP1 1 83206 1.20184E-5 41603 0 1.64984E-5
17-55182917-G-A p.Gly31Asp missense AKAP1 1 83206 1.20184E-5 41603 0 3.97947E-6
17-55182923-T-G p.Val33Gly missense AKAP1 60 83200 7.21154E-4 41600 0 0.00553877
17-55182926-G-A p.Ser34Asn missense AKAP1 2 83196 2.40396E-5 41598 0 1.65093E-5
17-55182930-C-T p.Ser35Ser synonymous AKAP1 3 83218 3.60499E-5 41609 0 6.3743E-5
17-55182931-C-T p.His36Tyr missense AKAP1 1 83224 1.20158E-5 41612 0 8.2496E-6
17-55182933-T-C p.His36His synonymous AKAP1 2 83224 2.40315E-5 41612 0 NA
17-55182941-A-C p.Gln39Pro missense AKAP1 1 83212 1.20175E-5 41606 0 NA
17-55182946-G-A p.Val41Met missense AKAP1 1 83192 1.20204E-5 41596 0 7.95995E-6
17-55182961-G-A p.Val46Met missense AKAP1 1 83178 1.20224E-5 41589 0 NA
17-55182972-G-T p.Arg49Ser missense AKAP1 1 83148 1.20267E-5 41574 0 7.95912E-6
17-55182972-G-C p.Arg49Ser missense AKAP1 1 83148 1.20267E-5 41574 0 8.25382E-6
17-55182982-G-A p.Ala53Thr missense AKAP1 2 83188 2.40419E-5 41594 0 6.37796E-5
17-55182989-A-G p.Lys55Arg missense AKAP1 7 83204 8.41306E-5 41602 0 3.97959E-6
17-55182990-G-A p.Lys55Lys synonymous AKAP1 2 83208 2.40361E-5 41604 0 NA
17-55183002-C-T p.Pro59Pro synonymous AKAP1 106 83218 0.00127376 41609 0 0.00302115
17-55183003-G-A p.Val60Met missense AKAP1 905 83198 0.0108777 41599 29 0.0230882
17-55183011-C-T p.Asp62Asp synonymous AKAP1 2 83220 2.40327E-5 41610 0 3.18735E-5
17-55183020-C-T p.Pro65Pro synonymous AKAP1 1 83210 1.20178E-5 41605 0 NA
17-55183036-C-T p.Pro71Ser missense AKAP1 3 83200 3.60577E-5 41600 0 NA
17-55183040-CCA-TCG p.ProSer72LeuGly missense AKAP1 2 83224 2.40315E-5 41612 0 NA
17-55183040-C-G p.Pro72Arg missense AKAP1 1 83224 1.20158E-5 41612 0 NA
17-55183045-G-A p.Val74Ile missense AKAP1 4 83204 4.80746E-5 41602 0 NA
17-55183055-C-T p.Pro77Leu missense AKAP1 1 83180 1.20221E-5 41590 0 NA
17-55183069-C-A p.Leu82Met missense AKAP1 1 83140 1.20279E-5 41570 0 3.97744E-6
17-55183077-C-T p.Thr84Thr synonymous AKAP1 1 83050 1.20409E-5 41525 0 0.001875
17-55183078-G-A p.Val85Met missense AKAP1 1 83044 1.20418E-5 41522 0 8.24171E-6
17-55183080-G-C p.Val85Val synonymous AKAP1 1 83032 1.20435E-5 41516 0 NA
17-55183095-A-G p.Ala90Ala synonymous AKAP1 2 82990 2.40993E-5 41495 0 8.24144E-6
17-55183122-C-T p.His99His synonymous AKAP1 3 83040 3.61272E-5 41520 0 3.18512E-5
17-55183129-T-C p.Cys102Arg missense AKAP1 1 83060 1.20395E-5 41530 0 NA
17-55183132-C-T p.Arg103* stop_gained AKAP1 1 83084 1.2036E-5 41542 0 3.18492E-5
17-55183148-C-T p.Ser108Leu missense AKAP1 2 83166 2.40483E-5 41583 0 2.47215E-5
17-55183148-C-G p.Ser108Trp missense AKAP1 1 83166 1.20241E-5 41583 0 3.18512E-5
17-55183149-G-A p.Ser108Ser synonymous AKAP1 2 83174 2.4046E-5 41587 0 6.59283E-5
17-55183149-G-T p.Ser108Ser synonymous AKAP1 2 83174 2.4046E-5 41587 0 3.97728E-6
17-55183149-G-C p.Ser108Ser synonymous AKAP1 1 83174 1.2023E-5 41587 0 NA
17-55183169-C-T p.Thr115Ile missense AKAP1 7 83250 8.40841E-5 41625 0 3.1841E-5
17-55183184-G-A p.Arg120Gln missense AKAP1 8 83276 9.60661E-5 41638 0 2.22887E-4
17-55183185-A-G p.Arg120Arg synonymous AKAP1 3 83278 3.60239E-5 41639 0 1.19328E-5
17-55183192-A-G p.Thr123Ala missense AKAP1 1 83290 1.20062E-5 41645 0 3.1839E-5
17-55183195-C-T p.Arg124Cys missense AKAP1 1613 83270 0.0193707 41635 15 0.0150524
17-55183196-G-T p.Arg124Leu missense AKAP1 30 83298 3.60153E-4 41649 0 4.45917E-4
17-55183196-G-A p.Arg124His missense AKAP1 1 83298 1.20051E-5 41649 0 1.59113E-5
17-55183203-T-C p.Asp126Asp synonymous AKAP1 35192 83076 0.423612 41538 7695 0.455269
17-55183203-TG-CA p.AspAsp126AspAsn missense AKAP1 1 83296 1.20054E-5 41648 0 NA
17-55183204-G-A p.Asp127Asn missense AKAP1 1 83300 1.20048E-5 41650 0 NA
17-55183223-T-C p.Leu133Pro missense AKAP1 1 83304 1.20042E-5 41652 0 NA
17-55183226-C-G p.Ala134Gly missense AKAP1 1 83304 1.20042E-5 41652 0 3.97772E-6
17-55183227-C-T p.Ala134Ala synonymous AKAP1 1 83308 1.20036E-5 41654 0 NA
17-55183235-G-T p.Gly137Val missense+splice_region AKAP1 1 83304 1.20042E-5 41652 0 NA
17-55183250-C-T p.Ser142Leu missense AKAP1 1 83314 1.20028E-5 41657 0 7.95526E-6
17-55183251-G-A p.Ser142Ser synonymous AKAP1 149 83306 0.00178859 41653 0 0.00704935
17-55183263-G-C p.Glu146Asp missense AKAP1 1 83304 1.20042E-5 41652 0 NA
17-55183270-C-T p.Leu149Phe missense AKAP1 2 83300 2.40096E-5 41650 0 NA
17-55183274-C-T p.Ser150Leu missense AKAP1 1 83310 1.20034E-5 41655 0 NA
17-55183288-G-A p.Val155Ile missense AKAP1 1 83324 1.20013E-5 41662 0 3.1835E-5
17-55183290-A-C p.Val155Val synonymous AKAP1 1 83322 1.20016E-5 41661 0 NA
17-55183293-A-G p.Leu156Leu synonymous AKAP1 7 83324 8.40094E-5 41662 0 9.55171E-5
17-55183293-A-C p.Leu156Leu synonymous AKAP1 4 83324 4.80054E-5 41662 0 1.64802E-5
17-55183309-G-A p.Ala162Thr missense AKAP1 1 83344 1.19985E-5 41672 0 NA
17-55183314-G-A p.Glu163Glu synonymous AKAP1 1 83348 1.19979E-5 41674 0 2.38658E-5
17-55183316-T-G p.Val164Gly missense AKAP1 1 83344 1.19985E-5 41672 0 NA
17-55183317-G-A p.Val164Val synonymous AKAP1 241 83340 0.00289177 41670 2 0.00506208
17-55183328-AT-A p.Ser169fs frameshift AKAP1 1 83346 1.19982E-5 41673 0 NA
17-55183338-C-T p.Phe171Phe synonymous AKAP1 1 83346 1.19982E-5 41673 0 NA
17-55183344-G-T p.Arg173Ser missense AKAP1 1 83340 1.1999E-5 41670 0 8.25627E-6
17-55183359-C-A p.Val178Val synonymous AKAP1 2 83322 2.40033E-5 41661 0 1.19475E-5
17-55183362-G-C p.Gln179His missense AKAP1 1 83320 1.20019E-5 41660 0 NA
17-55183371-C-T p.Tyr182Tyr splice_region+synonymous AKAP1 2 83314 2.40056E-5 41657 0 8.2905E-6
17-55183374-C-T p.Pro183Pro synonymous AKAP1 1 83312 1.20031E-5 41656 0 5.58525E-5
17-55183381-C-T p.Pro186Ser missense AKAP1 1 83298 1.20051E-5 41649 0 6.37146E-5
17-55183383-C-T p.Pro186Pro splice_region+synonymous AKAP1 3 83314 3.60084E-5 41657 0 4.98737E-5
17-55183384-G-T p.Ala187Ser missense AKAP1 1 83314 1.20028E-5 41657 0 3.99738E-6
17-55183384-G-A p.Ala187Thr missense AKAP1 1 83314 1.20028E-5 41657 0 1.99869E-5
17-55183390-A-G p.Lys189Glu missense AKAP1 2 83306 2.40079E-5 41653 0 NA
17-55183392-G-A p.Lys189Lys synonymous AKAP1 1 83304 1.20042E-5 41652 0 NA
17-55183393-C-T p.Arg190Cys missense AKAP1 1 83306 1.20039E-5 41653 0 2.49904E-5
17-55183394-G-A p.Arg190His missense AKAP1 1 83304 1.20042E-5 41652 0 3.18431E-5
17-55183400-C-A p.Ser192Tyr missense AKAP1 1 83284 1.20071E-5 41642 0 0.004375
17-55183402-G-A p.Gly193Arg missense AKAP1 3 83286 3.60205E-5 41643 0 6.25E-4
17-55183404-G-A p.Gly193Gly synonymous AKAP1 41 83280 4.92315E-4 41640 0 0.00101904
17-55183408-A-T p.Arg195Trp missense AKAP1 4 83270 4.80365E-5 41635 0 NA
17-55183424-G-A p.Gly200Asp missense AKAP1 4 83216 4.80677E-5 41608 0 5.03525E-4
17-55183431-C-T p.Ala202Ala synonymous AKAP1 4 83166 4.80966E-5 41583 0 9.72636E-5
17-55183432-G-A p.Glu203Lys missense AKAP1 2 83172 2.40466E-5 41586 0 4.20401E-5
17-55183439-C-CTGGTGAT p.Ala208fs frameshift AKAP1 1 83162 1.20247E-5 41581 0 NA
17-55183445-A-G p.Asp207Gly missense AKAP1 1 83140 1.20279E-5 41570 0 6.37024E-5
17-55183447-G-A p.Ala208Thr missense AKAP1 1 83130 1.20294E-5 41565 0 4.07027E-6
17-55183449-C-T p.Ala208Ala synonymous AKAP1 6 83136 7.21709E-5 41568 0 1.27453E-4
17-55183450-G-A p.Val209Met missense AKAP1 14 83134 1.68403E-4 41567 0 1.60178E-4
17-55183453-T-C p.Leu210Leu synonymous AKAP1 1 83128 1.20296E-5 41564 0 8.42787E-6
17-55183477-G-A p.Ala218Thr missense AKAP1 779 83134 0.00937041 41567 6 0.0191339
17-55183489-C-T p.Arg222Trp missense AKAP1 8 83164 9.61955E-5 41582 0 9.55292E-5
17-55183490-G-A p.Arg222Gln missense AKAP1 4 83172 4.80931E-5 41586 0 3.22544E-5
17-55183494-G-A p.Glu223Glu synonymous AKAP1 17 83178 2.04381E-4 41589 1 6.25E-4
17-55183494-G-GAATAGTA p.His224fs frameshift AKAP1 1 83178 1.20224E-5 41589 0 NA
17-55183515-C-T p.Asn230Asn synonymous AKAP1 6 83192 7.21223E-5 41596 0 2.00732E-5
17-55183522-G-A p.Gly233Ser missense AKAP1 1 83188 1.2021E-5 41594 0 NA
17-55183524-C-T p.Gly233Gly synonymous AKAP1 11 83176 1.3225E-4 41588 0 6.39161E-5
17-55183534-G-A p.Ala237Thr missense AKAP1 1 83200 1.20192E-5 41600 0 NA
17-55183541-T-C p.Leu239Ser missense AKAP1 1 83222 1.20161E-5 41611 0 NA
17-55183545-G-C p.Glu240Asp missense AKAP1 3 83240 3.60404E-5 41620 0 2.06738E-4
17-55183547-G-C p.Gly241Ala missense AKAP1 115 83238 0.00138158 41619 0 0.00296141
17-55183551-A-G p.Glu242Glu synonymous AKAP1 1 83222 1.20161E-5 41611 0 0.00375
17-55183578-C-T p.Ser251Ser synonymous AKAP1 2 83284 2.40142E-5 41642 0 5.77567E-5
17-55183589-G-A p.Gly255Glu missense AKAP1 3 83294 3.6017E-5 41647 0 1.65003E-5
17-55183607-A-G p.Glu261Gly missense AKAP1 1 83322 1.20016E-5 41661 0 NA
17-55183610-A-C p.Tyr262Ser missense AKAP1 2 83320 2.40038E-5 41660 0 7.95494E-6
17-55183623-G-C p.Lys266Asn missense AKAP1 4 83324 4.80054E-5 41662 0 1.19326E-5
17-55183635-G-T p.Arg270Ser missense AKAP1 3 83330 3.60014E-5 41665 0 3.18492E-5
17-55183641-C-T p.Ile272Ile synonymous AKAP1 1 83324 1.20013E-5 41662 0 0.00251762
17-55183642-G-A p.Glu273Lys missense AKAP1 1 83322 1.20016E-5 41661 0 2.47321E-5
17-55183646-C-T p.Ser274Leu missense AKAP1 8 83316 9.602E-5 41658 0 3.10292E-4
17-55183653-C-A p.His276Gln missense AKAP1 4 83328 4.80031E-5 41664 0 3.97791E-5
17-55183660-C-A p.Leu279Met missense AKAP1 3 83334 3.59997E-5 41667 0 0.001875
17-55183671-C-T p.Asp282Asp synonymous AKAP1 1 83322 1.20016E-5 41661 0 3.2969E-5
17-55183672-G-A p.Asp283Asn missense AKAP1 3 83322 3.60049E-5 41661 0 2.47264E-5
17-55183673-A-G p.Asp283Gly missense AKAP1 1 83318 1.20022E-5 41659 0 9.56389E-5
17-55183676-C-T p.Ala284Val missense AKAP1 4 83300 4.80192E-5 41650 0 1.15386E-4
17-55183677-G-A p.Ala284Ala synonymous AKAP1 2 83306 2.40079E-5 41653 0 5.17228E-5
17-55183679-C-T p.Ala285Val missense AKAP1 4 83296 4.80215E-5 41648 0 8.24212E-6
17-55183680-G-A p.Ala285Ala synonymous AKAP1 4 83298 4.80204E-5 41649 0 6.76358E-5
17-55183684-G-C p.Ala287Pro missense AKAP1 1 83286 1.20068E-5 41643 0 1.98953E-5
17-55183684-G-A p.Ala287Thr missense AKAP1 3 83286 3.60205E-5 41643 0 4.12106E-5
17-55183695-C-T p.Val290Val synonymous AKAP1 2 83296 2.40108E-5 41648 0 NA
17-55183696-G-A p.Ala291Thr missense AKAP1 2 83294 2.40113E-5 41647 0 1.19383E-5
17-55183701-C-T p.Asp292Asp synonymous AKAP1 7 83306 8.40276E-5 41653 0 5.03525E-4
17-55183702-G-A p.Ala293Thr missense AKAP1 2 83308 2.40073E-5 41654 0 1.59182E-5
17-55183702-G-T p.Ala293Ser missense AKAP1 1 83308 1.20036E-5 41654 0 NA
17-55183716-T-C p.Asp297Asp synonymous AKAP1 45039 83024 0.542482 41512 12426 0.580973
17-55183725-C-T p.Val300Val synonymous AKAP1 9 83322 1.08015E-4 41661 0 2.55412E-4
17-55183726-G-A p.Glu301Lys missense AKAP1 2326 83318 0.0279171 41659 180 0.0595276
17-55183735-C-A p.Leu304Met missense AKAP1 1 83352 1.19973E-5 41676 0 3.97994E-6
17-55183740-CAATGAGGAGAGCTTGGATAGAAATGAGGAGGGCTTGGATAGAAATGAGGAGGGCTTGGATAGA-C p.Gly323_Glu343del conservative_inframe_deletion AKAP1 1 83348 1.19979E-5 41674 0 NA
17-55183750-AGCTTGGATAGAAATGAGGAGG-A p.Gly323_Glu329del conservative_inframe_deletion AKAP1 188 83244 0.00225842 41622 1 0.022613
17-55183750-A-AGCTTGGATAGAAATGAGGAGG p.Gly323_Glu329dup conservative_inframe_insertion AKAP1 24 83350 2.87942E-4 41675 0 2.51877E-4
17-55183759-A-G p.Arg312Gly missense AKAP1 1 83374 1.19941E-5 41687 0 3.99524E-6
17-55183769-A-T p.Glu129Val missense+splice_region AKAP1 3 83386 3.59773E-5 41693 0 NA
17-55183771-GGCTTGGATAGAAATGAGGAGGGCTTGGATAGAAATGAGGAGA-G p.Ser330_Glu343del disruptive_inframe_deletion AKAP1 33 83234 3.96473E-4 41617 0 0.0191098
17-55183771-G-GGCTTGGATAGAAATGAGGAGA p.Glu322_Gly323insSerLeuAspArgAsnGluGlu conservative_inframe_insertion AKAP1 3 83382 3.5979E-5 41691 0 3.2476E-5
17-55183792-GGCTTGGATAGAAATGAGGAGA-G p.Ser330_Glu336del conservative_inframe_deletion AKAP1 673 83042 0.00810433 41521 29 0.0183789
17-55183792-G-A p.Gly323Ser missense AKAP1 2664 77608 0.0343264 38804 244 0.0735121
17-55183793-G-A p.Gly323Asp missense AKAP1 1 83394 1.19913E-5 41697 0 NA
17-55183804-AATG-A p.Asn327_Glu328delinsLys disruptive_inframe_deletion AKAP1 2 83386 2.39848E-5 41693 0 NA
17-55183813-A-G p.Ser330Gly missense AKAP1 5336 80884 0.065971 40442 305 0.060754
17-55183813-A-AGCTTGGATAGAAATGAGGAGG p.Gly337_Glu343dup conservative_inframe_insertion AKAP1 88 83376 0.00105546 41688 2 0.00346685
17-55183819-G-A p.Asp332Asn missense AKAP1 1 83382 1.1993E-5 41691 0 NA
17-55183821-T-C p.Asp332Asp synonymous AKAP1 1 83378 1.19936E-5 41689 0 3.97744E-6
17-55183834-G-A p.Gly337Ser missense AKAP1 1 83376 1.19939E-5 41688 0 NA
17-55183852-G-A p.Glu343Lys missense AKAP1 2 83362 2.39917E-5 41681 0 7.95475E-6
17-55183862-G-A p.Arg346Gln missense AKAP1 1 83354 1.1997E-5 41677 0 1.40063E-4
17-55183867-G-A p.Ala348Thr missense AKAP1 1 83354 1.1997E-5 41677 0 5.56846E-5
17-55183885-C-G p.Gln354Glu missense AKAP1 8 83342 9.599E-5 41671 0 3.18167E-5
17-55183887-A-G p.Gln354Gln synonymous AKAP1 1 83344 1.19985E-5 41672 0 NA
17-55183897-G-A p.Glu358Lys missense AKAP1 1 83330 1.20005E-5 41665 0 3.18674E-5
17-55183905-C-T p.Thr360Thr synonymous AKAP1 5 83324 6.00067E-5 41662 0 1.19309E-5
17-55183910-A-T p.Gln362Leu missense AKAP1 1 83318 1.20022E-5 41659 0 3.97684E-6
17-55183910-A-C p.Gln362Pro missense AKAP1 1 83318 1.20022E-5 41659 0 NA
17-55183912-G-A p.Val363Met missense AKAP1 1 83318 1.20022E-5 41659 0 NA
17-55183921-A-G p.Thr366Ala missense AKAP1 2 83306 2.40079E-5 41653 0 3.97684E-6
17-55183924-A-G p.Thr367Ala missense AKAP1 1 83306 1.20039E-5 41653 0 3.18695E-5
17-55183925-C-T p.Thr367Met missense AKAP1 1 83300 1.20048E-5 41650 0 8.24131E-6
17-55183926-G-A p.Thr367Thr synonymous AKAP1 5 83298 6.00254E-5 41649 0 3.18674E-5
17-55183930-G-A p.Gly369Ser missense AKAP1 1 83298 1.20051E-5 41649 0 8.24158E-6
17-55183934-A-G p.Lys370Arg missense AKAP1 2 83290 2.40125E-5 41645 0 1.19304E-5
17-55183936-G-A p.Val371Ile missense AKAP1 1 83284 1.20071E-5 41642 0 3.977E-6
17-55183937-T-C p.Val371Ala missense AKAP1 3 83288 3.60196E-5 41644 0 2.78383E-5
17-55183945-C-T p.Arg374Cys missense AKAP1 8 83286 9.60546E-5 41643 0 1.55108E-4
17-55183946-G-A p.Arg374His missense AKAP1 12 83276 1.44099E-4 41638 0 1.27437E-4
17-55183968-C-G p.Leu381Leu synonymous AKAP1 1 83208 1.20181E-5 41604 0 NA
17-55183972-G-C p.Gly383Arg missense AKAP1 2 83190 2.40414E-5 41595 0 6.37105E-5
17-55183980-G-A p.Lys385Lys synonymous AKAP1 1 83158 1.20253E-5 41579 0 NA
17-55183989-C-T p.Ser388Ser synonymous AKAP1 888 83044 0.0106931 41522 7 0.021148
17-55183993-G-A p.Val390Ile missense AKAP1 2 83032 2.40871E-5 41516 0 2.22846E-4
17-55184034-G-A p.Ala403Ala synonymous AKAP1 1 82212 1.21637E-5 41106 0 4.13455E-5
17-55184038-C-G p.Pro405Ala missense AKAP1 1 82180 1.21684E-5 41090 0 3.30682E-5
17-55184041-G-T p.Ala406Ser missense AKAP1 6 82190 7.30016E-5 41095 0 5.03525E-4
17-55184041-G-A p.Ala406Thr missense AKAP1 1 82190 1.21669E-5 41095 0 2.39284E-5
17-55184043-C-G p.Ala406Ala synonymous AKAP1 1 82180 1.21684E-5 41090 0 NA
17-55184052-G-A p.Glu409Glu synonymous AKAP1 1 82124 1.21767E-5 41062 0 3.98737E-6
17-55184055-A-T p.Ala410Ala synonymous AKAP1 2 82122 2.4354E-5 41061 0 NA
17-55184058-T-A p.Ala411Ala synonymous AKAP1 2 82106 2.43588E-5 41053 0 3.98686E-6
17-55184066-C-T p.Pro414Leu missense AKAP1 12 82060 1.46234E-4 41030 0 2.55053E-4
17-55184066-C-G p.Pro414Arg missense AKAP1 27 82058 3.29036E-4 41029 0 2.23172E-4
17-55184067-G-A p.Pro414Pro synonymous AKAP1 3 82000 3.65854E-5 41000 0 3.18837E-5
17-55184069-C-T p.Pro415Leu missense AKAP1 2 82058 2.4373E-5 41029 0 6.37552E-5
17-55184071-G-T p.Asp416Tyr missense AKAP1 1 82078 1.21835E-5 41039 0 NA
17-55184074-G-C p.Ala417Pro missense AKAP1 1 82094 1.21812E-5 41047 0 NA
17-55184101-G-A p.Ala426Thr missense AKAP1 1 82188 1.21672E-5 41094 0 3.98438E-6
17-55184122-A-C p.Lys433Gln missense AKAP1 2 82340 2.42895E-5 41170 0 NA
17-55184126-C-T p.Thr434Ile missense AKAP1 4 82354 4.85708E-5 41177 0 1.27397E-4
17-55184130-C-T p.Tyr435Tyr synonymous AKAP1 18 82346 2.1859E-4 41173 0 2.86734E-4
17-55184131-G-A p.Val436Met missense AKAP1 2 82358 2.42842E-5 41179 0 3.98092E-6
17-55184133-G-A p.Val436Val synonymous AKAP1 4 82392 4.85484E-5 41196 0 1.64938E-5
17-55184160-C-T p.Ser445Ser synonymous AKAP1 1 82434 1.21309E-5 41217 0 NA
17-55184169-G-A p.Lys448Lys synonymous AKAP1 1 82566 1.21115E-5 41283 0 1.19346E-5
17-55184183-A-G p.Asn453Ser missense AKAP1 1 82658 1.2098E-5 41329 0 NA
17-55184195-A-G p.His457Arg missense AKAP1 1 82646 1.20998E-5 41323 0 NA
17-55184202-C-G p.Ile459Met missense AKAP1 3 82702 3.62748E-5 41351 0 9.14848E-5
17-55184209-G-A p.Ala462Thr missense AKAP1 1 82712 1.20901E-5 41356 0 NA
17-55184229-C-T p.Thr468Thr synonymous AKAP1 40 82778 4.8322E-4 41389 0 0.005
17-55184247-G-A p.Leu474Leu synonymous AKAP1 2 82892 2.41278E-5 41446 0 NA
17-55184250-G-A p.Pro475Pro synonymous AKAP1 895 82918 0.0107938 41459 7 0.021148
17-55184255-G-A p.Arg477Gln missense AKAP1 2 82970 2.41051E-5 41485 0 1.27364E-4
17-55184261-G-A p.Gly479Asp missense AKAP1 1 82974 1.2052E-5 41487 0 NA
17-55184275-G-A p.Asp484Asn missense AKAP1 2 83102 2.40668E-5 41551 0 6.36862E-5
17-55184287-G-A p.Val488Ile missense AKAP1 3 83140 3.60837E-5 41570 0 6.37105E-5
17-55184296-A-G p.Met491Val missense AKAP1 2 83176 2.40454E-5 41588 0 1.19305E-5
17-55184299-T-G p.Ser492Ala missense AKAP1 1 83178 1.20224E-5 41589 0 NA
17-55184306-G-A p.Ser494Asn missense AKAP1 1 83176 1.20227E-5 41588 0 8.35169E-5
17-55184309-G-T p.Ser495Ile missense AKAP1 1 83182 1.20218E-5 41591 0 NA
17-55184324-T-C p.Leu500Ser missense AKAP1 1 83226 1.20155E-5 41613 0 NA
17-55184326-G-T p.Val501Leu missense AKAP1 1 83232 1.20146E-5 41616 0 7.41339E-5
17-55184333-C-T p.Ser503Phe missense AKAP1 1 83246 1.20126E-5 41623 0 NA
17-55184354-C-A p.Ser510Tyr missense AKAP1 7 83246 8.40881E-5 41623 0 7.55678E-5
17-55184358-C-T p.Phe511Phe synonymous AKAP1 1 83236 1.2014E-5 41618 0 1.64761E-5
17-55184372-T-C p.Leu516Pro missense AKAP1 3 83234 3.6043E-5 41617 0 2.80121E-4
17-55184380-T-C p.Ser519Pro missense AKAP1 1 83190 1.20207E-5 41595 0 8.23927E-6
17-55184381-C-T p.Ser519Phe missense AKAP1 1 83188 1.2021E-5 41594 0 1.19323E-5
17-55184387-C-T p.Thr521Ile missense AKAP1 185 83144 0.00222506 41572 0 0.0024855
17-55184388-A-G p.Thr521Thr synonymous AKAP1 3 83144 3.6082E-5 41572 0 3.9776E-6
17-55184405-C-T p.Pro527Leu missense AKAP1 3 83050 3.61228E-5 41525 0 1.64848E-5
17-55184413-A-G p.Lys530Glu missense AKAP1 2 82994 2.40981E-5 41497 0 NA
17-55184423-C-A p.Thr533Asn missense AKAP1 1 83054 1.20404E-5 41527 0 8.26843E-6
17-55184427-G-A p.Pro534Pro synonymous AKAP1 2 83068 2.40767E-5 41534 0 4.96294E-5
17-55184433-G-A p.Leu536Leu synonymous AKAP1 2 83132 2.40581E-5 41566 0 1.65377E-5
17-55184437-GA-G p.Ser539fs frameshift AKAP1 1 83128 1.20296E-5 41564 0 NA
17-55184443-ACTGTGCC-A p.Val541fs frameshift AKAP1 1 83072 1.20378E-5 41536 0 3.98061E-6
17-55184446-G-C p.Val541Leu missense AKAP1 1 83050 1.20409E-5 41525 0 NA
17-55184467-CT-C p.Leu548fs frameshift AKAP1 1 82806 1.20764E-5 41403 0 NA
17-55184469-G-A p.Leu548Leu synonymous AKAP1 84 82792 0.00101459 41396 0 0.00125
17-55184473-G-A p.Gly550Arg missense AKAP1 2 82802 2.4154E-5 41401 0 3.18451E-5
17-55184480-T-C p.Leu552Ser missense AKAP1 1 82734 1.20869E-5 41367 0 NA
17-55184489-T-TG p.Ala557fs frameshift AKAP1 1 82576 1.21101E-5 41288 0 NA
17-55184494-G-T p.Ala557Ser missense AKAP1 43 82366 5.2206E-4 41183 1 3.87545E-4
17-55184494-G-A p.Ala557Thr missense AKAP1 1 82366 1.21409E-5 41183 0 3.99125E-6
17-55184518-G-A p.Ala565Thr missense AKAP1 2 81398 2.45706E-5 40699 0 8.62128E-6
17-55184519-C-T p.Ala565Val missense AKAP1 3 81326 3.68886E-5 40663 0 8.64349E-6
17-55184520-G-A p.Ala565Ala synonymous AKAP1 1 81304 1.22995E-5 40652 0 6.05673E-5
17-55184535-A-G p.Ser570Ser synonymous AKAP1 1 80626 1.24029E-5 40313 0 NA
17-55184541-T-TTCTGACAGGAACAGCATGGATTCCGTGGATAGCTGTTGC c.1714+2_1714+3insTCTGACAGGAACAGCATGGATTCCGTGGATAGCTGTTGC splice_region AKAP1 1 80320 1.24502E-5 40160 0 NA
17-55184547-G-A c.1714+8G>A splice_region AKAP1 1 80046 1.24928E-5 40023 0 NA
17-55185317-AC-A p.Pro577fs frameshift AKAP1 2 77418 2.58338E-5 38709 0 NA
17-55185318-C-A p.Pro576Thr missense AKAP1 1 77430 1.29149E-5 38715 0 NA
17-55185322-C-T p.Pro577Leu missense AKAP1 1 77426 1.29156E-5 38713 0 6.37024E-5
17-55185324-G-A p.Gly578Arg missense AKAP1 1 77434 1.29142E-5 38717 0 NA
17-55185330-C-G p.Arg580Gly missense AKAP1 2 77448 2.58238E-5 38724 0 NA
17-55185330-C-T p.Arg580Trp missense AKAP1 2 77448 2.58238E-5 38724 0 NA
17-55185331-G-A p.Arg580Gln missense AKAP1 4 77452 5.16449E-5 38726 0 6.37064E-5
17-55185346-C-T p.Thr585Met missense AKAP1 4 77470 5.16329E-5 38735 0 8.06062E-5
17-55185352-G-A p.Cys587Tyr missense AKAP1 1 77464 1.29092E-5 38732 0 7.36735E-6
17-55185355-C-T p.Pro588Leu missense AKAP1 1 77450 1.29116E-5 38725 0 NA
17-55185365-C-T p.Phe591Phe synonymous AKAP1 2 77406 2.58378E-5 38703 0 1.49544E-5
17-55185366-G-A p.Glu592Lys missense AKAP1 9 77384 1.16303E-4 38692 0 1.27502E-4
17-55185370-G-A p.Cys593Tyr missense AKAP1 2 77380 2.58465E-5 38690 0 2.26446E-5
17-55185411-T-A c.*35+2T>A splice_donor AKAP1 1 76930 1.29988E-5 38465 0 3.18431E-5
17-55187386-G-A p.Gly572Asp missense+splice_region AKAP1 1 82940 1.20569E-5 41470 0 3.9834E-6
17-55187412-G-T p.Val581Leu missense AKAP1 1 83124 1.20302E-5 41562 0 NA
17-55187420-C-T p.Ser583Ser synonymous AKAP1 266 83162 0.00319858 41581 1 0.00601949
17-55187427-A-C p.Ser586Arg missense AKAP1 2 83196 2.40396E-5 41598 0 8.23832E-6
17-55187430-C-T p.Leu587Phe missense AKAP1 5 83214 6.0086E-5 41607 0 4.77255E-5
17-55187447-C-CT p.Gln594fs frameshift AKAP1 1 83238 1.20137E-5 41619 0 NA
17-55187466-G-A p.Gly599Ser missense AKAP1 1 83224 1.20158E-5 41612 0 NA
17-55187484-G-C p.Val605Leu missense AKAP1 1 83210 1.20178E-5 41605 0 NA
17-55187487-G-A p.Asp606Asn missense AKAP1 3 83168 3.60716E-5 41584 1 1.6481E-5
17-55187507-C-T p.Ile612Ile synonymous AKAP1 1 83022 1.2045E-5 41511 0 3.97969E-5
17-55187508-G-A p.Glu613Lys missense AKAP1 2 83018 2.40912E-5 41509 0 6.37308E-5
17-55187526-G-A c.1848+7G>A splice_region AKAP1 1 82754 1.2084E-5 41377 0 3.98422E-6
17-55187527-C-T c.1848+8C>T splice_region AKAP1 1 82704 1.20913E-5 41352 0 6.37836E-5
17-55189164-A-C p.Leu618Phe missense AKAP1 1 83380 1.19933E-5 41690 0 NA
17-55189167-C-T p.Val619Val synonymous AKAP1 2 83378 2.39871E-5 41689 0 1.64777E-5
17-55189168-G-T p.Gly620Cys missense AKAP1 2 83382 2.3986E-5 41691 0 8.23873E-6
17-55189184-A-G p.Lys625Arg missense AKAP1 1 83388 1.19921E-5 41694 0 NA
17-55189193-G-A p.Arg628His missense AKAP1 3 83386 3.59773E-5 41693 0 9.56572E-5
17-55189196-A-G p.Tyr629Cys missense AKAP1 2 83388 2.39843E-5 41694 0 NA
17-55189196-A-T p.Tyr629Phe missense AKAP1 1 83388 1.19921E-5 41694 0 5.04032E-4
17-55189218-A-T p.Thr636Thr synonymous AKAP1 1 83382 1.1993E-5 41691 0 NA
17-55189233-C-T p.Ile641Ile synonymous AKAP1 5 83372 5.99722E-5 41686 0 NA
17-55189245-C-A p.Thr645Thr synonymous AKAP1 10 83350 1.19976E-4 41675 0 2.22987E-4
17-55189250-C-A p.Pro647His missense AKAP1 2 83346 2.39964E-5 41673 0 NA
17-55189263-C-T p.Ser651Ser synonymous AKAP1 4 83308 4.80146E-5 41654 0 3.29554E-5
17-55189264-G-A p.Val652Ile missense AKAP1 38 83306 4.5615E-4 41653 0 4.4171E-4
17-55189286-G-A c.1975+1G>A splice_donor AKAP1 1 83234 1.20143E-5 41617 0 NA
17-55189846-A-G c.1976-6A>G splice_region AKAP1 818 83214 0.00983008 41607 18 0.0216047
17-55189852-G-A p.Gly659Asp missense+splice_region AKAP1 1 83268 1.20094E-5 41634 0 NA
17-55189859-A-G p.Gln661Gln synonymous AKAP1 4 83286 4.80273E-5 41643 0 5.03525E-4
17-55189865-T-C p.His663His synonymous AKAP1 1 83288 1.20065E-5 41644 0 7.95893E-6
17-55189876-C-T p.Ala667Val missense AKAP1 2 83316 2.4005E-5 41658 0 5.03525E-4
17-55189893-A-C p.Lys673Gln missense AKAP1 11 83342 1.31986E-4 41671 0 2.22958E-4
17-55189894-A-G p.Lys673Arg missense AKAP1 3 83338 3.5998E-5 41669 0 8.24865E-6
17-55189911-A-G p.Asn679Asp missense AKAP1 2 83346 2.39964E-5 41673 0 8.24674E-6
17-55189913-C-T p.Asn679Asn synonymous AKAP1 33 83352 3.95911E-4 41676 0 0.00114635
17-55189918-C-T p.Thr681Ile missense AKAP1 1 83352 1.19973E-5 41676 0 NA
17-55189919-C-A p.Thr681Thr synonymous AKAP1 1 83348 1.19979E-5 41674 0 NA
17-55189923-A-G p.Ile683Val missense AKAP1 2 83352 2.39946E-5 41676 0 1.59123E-5
17-55189928-C-T p.Tyr684Tyr synonymous AKAP1 1 83350 1.19976E-5 41675 0 1.64992E-5
17-55189929-G-A p.Ala685Thr missense AKAP1 78 83334 9.35993E-4 41667 2 0.00130615
17-55189937-A-G p.Pro687Pro synonymous AKAP1 1 83348 1.19979E-5 41674 0 1.65049E-5
17-55189938-T-C p.Leu688Leu synonymous AKAP1 2 83348 2.39958E-5 41674 0 8.25478E-6
17-55189954-T-C p.Leu693Pro missense AKAP1 1 83330 1.20005E-5 41665 0 3.98616E-6
17-55189967-G-A p.Pro697Pro synonymous AKAP1 10 83306 1.20039E-4 41653 0 2.23001E-4
17-55189972-C-T p.Thr699Ile missense AKAP1 5 83304 6.00211E-5 41652 0 6.36821E-5
17-55189979-G-GCTCAT c.2103_2103+1insCTCAT splice_donor AKAP1 1 83260 1.20106E-5 41630 0 NA
17-55189982-G-A c.2103+3G>A splice_region AKAP1 3 83230 3.60447E-5 41615 0 NA
17-55189986-G-C c.2103+7G>C splice_region AKAP1 642 83188 0.00771746 41594 4 0.02875
17-55189986-G-A c.2103+7G>A splice_region AKAP1 1 83196 1.20198E-5 41598 0 8.42701E-6
17-55191834-T-C p.Asp706Asp synonymous AKAP1 1 83294 1.20057E-5 41647 0 NA
17-55191842-C-T p.Thr709Ile missense AKAP1 1 83306 1.20039E-5 41653 0 8.24362E-6
17-55191843-C-T p.Thr709Thr synonymous AKAP1 3 83304 3.60127E-5 41652 0 3.18654E-5
17-55191844-G-A p.Val710Met missense AKAP1 1 83308 1.20036E-5 41654 0 1.64851E-5
17-55191847-G-A p.Glu711Lys missense AKAP1 1 83310 1.20034E-5 41655 0 NA
17-55191853-AT-A p.Ile713fs frameshift AKAP1 1 83306 1.20039E-5 41653 0 NA
17-55191854-T-C p.Ile713Thr missense AKAP1 1 83308 1.20036E-5 41654 0 2.47235E-5
17-55191856-G-A p.Val714Met missense AKAP1 1 83300 1.20048E-5 41650 0 NA
17-55191874-G-A p.Ala720Thr missense AKAP1 1 83308 1.20036E-5 41654 0 NA
17-55191876-C-T p.Ala720Ala synonymous AKAP1 51 83306 6.12201E-4 41653 0 0.0013059
17-55191878-G-C p.Gly721Ala missense AKAP1 1 83292 1.2006E-5 41646 0 NA
17-55191879-G-A p.Gly721Gly synonymous AKAP1 5 83292 6.00298E-5 41646 0 3.2962E-5
17-55191888-C-T p.Phe724Phe synonymous AKAP1 591 83294 0.00709535 41647 3 0.028125
17-55191889-G-C p.Val725Leu missense AKAP1 1 83278 1.2008E-5 41639 0 NA
17-55191898-C-T p.His728Tyr missense AKAP1 1 83262 1.20103E-5 41631 0 3.97753E-6
17-55191918-C-T p.His734His synonymous AKAP1 38 83232 4.56555E-4 41616 0 6.25E-4
17-55191920-C-T p.Ala735Val missense AKAP1 5 83222 6.00803E-5 41611 0 6.25E-4
17-55191921-G-A p.Ala735Ala synonymous AKAP1 194 83208 0.00233151 41604 0 0.00553877
17-55191925-C-T p.Arg737Cys missense AKAP1 1 83210 1.20178E-5 41605 0 1.65287E-5
17-55191941-A-G p.Gln742Arg missense AKAP1 1 83198 1.20195E-5 41599 0 7.95767E-6
17-55191947-A-T p.Tyr744Phe missense AKAP1 1 83154 1.20259E-5 41577 0 4.99401E-5
17-55191949-C-T p.Leu745Phe missense AKAP1 2 83158 2.40506E-5 41579 0 6.37105E-5
17-55191965-C-G p.Pro750Arg missense AKAP1 1 83060 1.20395E-5 41530 0 NA
17-55191985-AC-A p.Pro758fs frameshift AKAP1 1 82882 1.20653E-5 41441 0 NA
17-55193476-G-A p.Thr762Thr synonymous AKAP1 4 83068 4.81533E-5 41534 0 3.32546E-5
17-55193485-T-C p.Cys765Cys synonymous AKAP1 1 83128 1.20296E-5 41564 0 NA
17-55193488-C-T p.Ala766Ala synonymous AKAP1 26 83138 3.12733E-4 41569 1 0.0013258
17-55193499-C-T p.Ala770Val missense AKAP1 1 83212 1.20175E-5 41606 0 3.18695E-5
17-55193500-G-A p.Ala770Ala synonymous AKAP1 5 83232 6.0073E-5 41616 0 0.00125
17-55193503-C-T p.Asp771Asp synonymous AKAP1 7 83228 8.41063E-5 41614 0 6.61135E-5
17-55193504-G-A p.Gly772Arg missense AKAP1 1 83248 1.20123E-5 41624 0 3.18634E-5
17-55193507-G-A p.Ala773Thr missense AKAP1 1 83266 1.20097E-5 41633 0 5.03525E-4
17-55193517-G-A p.Arg776Gln missense AKAP1 1 83292 1.2006E-5 41646 0 NA
17-55193533-C-G p.Ala781Ala synonymous AKAP1 2 83318 2.40044E-5 41659 0 3.18532E-5
17-55193539-CGAG-C p.Glu785del conservative_inframe_deletion AKAP1 3 83320 3.60058E-5 41660 0 8.24729E-6
17-55193539-C-T p.Tyr783Tyr synonymous AKAP1 1 83320 1.20019E-5 41660 0 0.001875
17-55193540-G-A p.Glu784Lys missense AKAP1 2 83322 2.40033E-5 41661 0 6.59707E-5
17-55193551-C-T p.Asn787Asn synonymous AKAP1 226 83342 0.00271172 41671 3 0.00455559
17-55193551-C-CG p.Glu788fs frameshift AKAP1 2 83346 2.39964E-5 41673 0 NA
17-55193560-G-T p.Glu790Asp missense AKAP1 1 83348 1.19979E-5 41674 0 8.24239E-6
17-55193565-G-A p.Arg792Gln missense AKAP1 1 83348 1.19979E-5 41674 0 7.95558E-6
17-55193578-C-T p.Tyr796Tyr synonymous AKAP1 1 83334 1.19999E-5 41667 0 1.23628E-4
17-55193581-C-T p.Gly797Gly synonymous AKAP1 1 83326 1.20011E-5 41663 0 1.98891E-5
17-55193594-G-C p.Val802Leu missense AKAP1 10 83310 1.20034E-4 41655 0 6.36902E-5
17-55193594-G-A p.Val802Met missense AKAP1 1 83310 1.20034E-5 41655 0 8.24239E-6
17-55193602-A-G p.Val804Val synonymous AKAP1 1 83284 1.20071E-5 41642 0 NA
17-55193605-C-T p.Asp805Asp synonymous AKAP1 5 83270 6.00456E-5 41635 0 5.03525E-4
17-55193606-G-A p.Val806Met missense AKAP1 1 83286 1.20068E-5 41643 0 8.24538E-6
17-55193611-C-T p.Leu807Leu synonymous AKAP1 2 83272 2.40177E-5 41636 0 NA
17-55193624-T-TCTGACTTTGTCACCCTGCCGTTTCA c.2432+2_2432+3insCTGACTTTGTCACCCTGCCGTTTCA splice_region AKAP1 1 83214 1.20172E-5 41607 0 NA
17-55193624-T-TCTGACTTTGTCACCCTGCCGTTTCAGG c.2432+2_2432+3insCTGACTTTGTCACCCTGCCGTTTCAGG splice_region AKAP1 2 83214 2.40344E-5 41607 0 NA
17-55193627-G-A c.2432+5G>A splice_region AKAP1 2 83182 2.40437E-5 41591 0 1.65172E-5
17-55193629-G-A c.2432+7G>A splice_region AKAP1 181 83150 0.00217679 41575 0 0.00224686
17-55193630-G-A c.2432+8G>A splice_region AKAP1 7 83162 8.41731E-5 41581 0 1.59223E-5
17-55194241-C-T p.Pro818Leu missense AKAP1 4 82674 4.83828E-5 41337 0 4.37383E-5
17-55194242-G-A p.Arg350His missense AKAP1 387 82646 0.00468262 41323 4 0.00961538
17-55194250-G-A p.Gly821Glu missense AKAP1 1 82662 1.20975E-5 41331 0 NA
17-55194252-G-A p.Ala822Thr missense AKAP1 38 82656 4.59737E-4 41328 0 4.45718E-4
17-55194275-G-T p.Ter361Leuext*? stop_lost AKAP1 1 82564 1.21118E-5 41282 0 3.97627E-6
17-55194293-C-T c.2500+5C>T splice_region AKAP1 2 82456 2.42554E-5 41228 0 3.18451E-5
17-55195743-C-T p.Asp834Asp splice_region+synonymous AKAP1 1 82768 1.2082E-5 41384 0 2.38605E-5
17-55195744-G-A p.Asp835Asn missense+splice_region AKAP1 1 82780 1.20802E-5 41390 0 3.18451E-5
17-55195746-T-C p.Asp835Asp synonymous AKAP1 1 82798 1.20776E-5 41399 0 NA
17-55195747-G-A p.Asp836Asn missense AKAP1 1 82816 1.2075E-5 41408 0 NA
17-55195758-A-C p.Ser839Ser synonymous AKAP1 3 82838 3.62153E-5 41419 0 2.38895E-4
17-55195760-C-T p.Pro840Leu missense AKAP1 36 82856 4.34489E-4 41428 2 0.003125
17-55195761-G-A p.Pro840Pro synonymous AKAP1 2 82874 2.4133E-5 41437 0 7.41412E-5
17-55195773-C-T p.Ala844Ala synonymous AKAP1 1 82878 1.20659E-5 41439 0 NA
17-55195780-A-G p.Ser847Gly missense AKAP1 128 82890 0.00154422 41445 2 0.00125
17-55195783-G-A p.Glu848Lys missense AKAP1 1 82862 1.20683E-5 41431 0 1.64761E-5
17-55195790-C-T p.Thr850Met missense AKAP1 3 82854 3.62083E-5 41427 0 6.37146E-5
17-55195791-G-A p.Thr850Thr synonymous AKAP1 137 82854 0.00165351 41427 0 0.00331126
17-55195809-T-G p.Leu856Leu synonymous AKAP1 2 82762 2.41657E-5 41381 0 NA
17-55195812-T-C p.Ala857Ala synonymous AKAP1 1 82726 1.20881E-5 41363 0 NA
17-55195815-GGT-G c.2574+1_2574+2delGT splice_donor AKAP1 1 82692 1.20931E-5 41346 0 NA
17-55195817-T-TGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGA c.2574+2_2574+3insGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGA splice_region AKAP1 2 82666 2.41937E-5 41333 1 NA
17-55195818-G-GACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGC c.2574+3_2574+4insACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGC splice_region AKAP1 6 82662 7.25847E-5 41331 3 NA
17-55196354-C-T p.Tyr862Tyr synonymous AKAP1 2 83354 2.3994E-5 41677 0 3.1837E-5
17-55196356-G-T p.Ser863Ile missense AKAP1 2 83360 2.39923E-5 41680 0 3.18471E-5
17-55196361-A-G p.Thr865Ala missense AKAP1 1 83368 1.1995E-5 41684 0 1.19296E-5
17-55196364-G-T p.Gly866Cys missense AKAP1 1 83372 1.19944E-5 41686 0 NA
17-55196367-C-A p.Leu867Ile missense AKAP1 1 83374 1.19941E-5 41687 0 NA
17-55196373-C-T p.Leu869Leu synonymous AKAP1 4 83370 4.79789E-5 41685 0 1.19295E-5
17-55196407-T-TGGTGTTG c.2637+2_2637+3insGGTGTTG splice_region AKAP1 6 83362 7.19752E-5 41681 3 NA
17-55196411-T-C c.2637+6T>C splice_region AKAP1 1 83348 1.19979E-5 41674 0 8.23669E-6
17-55197620-A-T p.Ile883Leu missense AKAP1 26 83326 3.12027E-4 41663 0 6.70284E-4
17-55197627-G-A p.Arg885Gln missense AKAP1 4 83358 4.79858E-5 41679 1 8.24865E-5
17-55197627-G-T p.Arg885Leu missense AKAP1 1 83358 1.19964E-5 41679 0 NA
17-55197630-C-T p.Ser886Phe missense AKAP1 8 83360 9.59693E-5 41680 0 2.23442E-4
17-55197641-C-T p.Arg890* stop_gained AKAP1 1 83376 1.19939E-5 41688 0 3.19061E-5
17-55197641-C-G p.Arg890Gly missense AKAP1 1 83376 1.19939E-5 41688 0 NA
17-55197642-G-A p.Arg890Gln missense AKAP1 2 83386 2.39848E-5 41693 0 1.99243E-5
17-55197669-A-G p.Tyr899Cys missense AKAP1 1 83406 1.19895E-5 41703 0 NA
17-55197676-A-C p.Thr901Thr synonymous AKAP1 2 83410 2.39779E-5 41705 0 NA
17-55197680-C-T p.Leu903Phe missense AKAP1 1 83408 1.19893E-5 41704 0 8.25205E-6
17-55197914-G-C c.*229G>C splice_region AKAP1 36886 44612 0.826818 22306 15393 0.844575
17-55198644-G-A p.Ala128Thr missense AKAP1 10 15190 6.58328E-4 7595 0 0.00270027
17-55198645-C-CT p.Ser129fs frameshift AKAP1 137 14904 0.00919216 7452 6 0.0182738
17-55198668-ATAAG-A p.Lys138fs frameshift AKAP1 4 8738 4.57771E-4 4369 0 6.37389E-5