Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-85923868-G-T c.-173G>T 5_prime_UTR_premature_start_codon_gain AKAP13 1 14272 7.00673E-5 7136 0 3.19693E-5
15-85923885-C-T c.-156C>T 5_prime_UTR_premature_start_codon_gain AKAP13 13 21418 6.06966E-4 10709 0 0.00157332
15-85923916-C-G c.-125C>G 5_prime_UTR_premature_start_codon_gain AKAP13 1 30018 3.33133E-5 15009 0 NA
15-85923980-G-C c.-61G>C 5_prime_UTR_premature_start_codon_gain AKAP13 2 37696 5.3056E-5 18848 0 3.18654E-5
15-86028941-T-C c.-11T>C splice_region AKAP13 1 81240 1.23092E-5 40620 0 NA
15-86028958-C-G p.Leu3Val missense AKAP13 1 81292 1.23013E-5 40646 0 3.98502E-6
15-86028968-A-G p.Gln6Arg missense AKAP13 1 81294 1.2301E-5 40647 0 3.98479E-6
15-86028969-G-A p.Gln6Gln synonymous AKAP13 6 81308 7.37935E-5 40654 0 1.59246E-4
15-86064659-G-A p.Gly12Ser missense+splice_region AKAP13 1 83302 1.20045E-5 41651 0 8.24443E-6
15-86064662-G-A p.Asp13Asn missense AKAP13 1 83304 1.20042E-5 41652 0 NA
15-86064676-A-G p.Thr17Thr synonymous AKAP13 5 83326 6.00053E-5 41663 0 NA
15-86064695-G-C p.Asp24His missense AKAP13 1 83324 1.20013E-5 41662 0 3.97738E-6
15-86064705-A-G p.Glu27Gly missense AKAP13 1 83328 1.20008E-5 41664 0 NA
15-86064713-G-A p.Val30Ile missense AKAP13 1 83322 1.20016E-5 41661 0 2.47101E-5
15-86064716-G-A p.Val31Met missense AKAP13 1 83322 1.20016E-5 41661 0 8.23655E-6
15-86064718-G-A p.Val31Val synonymous AKAP13 1 83326 1.20011E-5 41663 0 2.38629E-5
15-86064722-T-C p.Tyr33His missense AKAP13 6 83328 7.20046E-5 41664 0 3.57958E-5
15-86064723-A-G p.Tyr33Cys missense AKAP13 1 83328 1.20008E-5 41664 0 NA
15-86064735-T-C p.Leu37Ser missense AKAP13 3 83316 3.60075E-5 41658 0 1.07079E-4
15-86064741-C-T p.Ser39Phe missense AKAP13 3 83318 3.60066E-5 41659 0 8.2371E-6
15-86064742-C-T p.Ser39Ser synonymous AKAP13 1 83322 1.20016E-5 41661 0 6.37186E-5
15-86064746-C-T p.Leu41Phe missense AKAP13 1 83314 1.20028E-5 41657 0 3.97728E-6
15-86064749-C-T p.Arg42Cys missense AKAP13 4 83320 4.80077E-5 41660 0 6.25E-4
15-86064749-C-G p.Arg42Gly missense AKAP13 1 83320 1.20019E-5 41660 0 NA
15-86064750-G-A p.Arg42His missense AKAP13 20 83322 2.40033E-4 41661 0 6.05096E-4
15-86064758-A-G p.Thr45Ala missense AKAP13 2 83326 2.40021E-5 41663 0 NA
15-86064767-C-T p.Arg48Trp missense AKAP13 2 83312 2.40061E-5 41656 0 2.4719E-5
15-86064768-G-A p.Arg48Gln missense AKAP13 1 83318 1.20022E-5 41659 0 1.64821E-5
15-86064772-G-A p.Lys49Lys synonymous AKAP13 2 83316 2.4005E-5 41658 0 4.94552E-5
15-86064787-A-G p.Thr54Thr synonymous AKAP13 2 83308 2.40073E-5 41654 0 2.47541E-5
15-86064793-G-A p.Glu56Glu synonymous AKAP13 1 83294 1.20057E-5 41647 0 8.25232E-6
15-86064793-G-C p.Glu56Asp missense AKAP13 1 83294 1.20057E-5 41647 0 NA
15-86064794-A-G p.Thr57Ala missense AKAP13 2 83288 2.40131E-5 41644 0 8.25409E-6
15-86064798-T-C p.Ile58Thr missense AKAP13 2 83280 2.40154E-5 41640 0 1.65186E-5
15-86064802-T-A p.Ala59Ala synonymous AKAP13 1 83276 1.20083E-5 41638 0 NA
15-86064807-G-T c.181+1G>T splice_donor AKAP13 2 83262 2.40206E-5 41631 0 3.18451E-5
15-86064810-A-G c.181+4A>G splice_region AKAP13 2 83254 2.40229E-5 41627 0 3.98924E-6
15-86076809-C-T c.182-6C>T splice_region AKAP13 1 83280 1.20077E-5 41640 0 4.15752E-6
15-86076815-G-C p.Gly61Ala missense+splice_region AKAP13 2 83288 2.40131E-5 41644 0 3.18573E-5
15-86076816-T-A p.Gly61Gly splice_region+synonymous AKAP13 3 83284 3.60213E-5 41642 0 1.22931E-5
15-86076823-T-G p.Cys64Gly missense AKAP13 1 83304 1.20042E-5 41652 0 8.62292E-6
15-86076844-C-T p.Gln71* stop_gained AKAP13 2 83330 2.4001E-5 41665 0 NA
15-86076845-A-T p.Gln71Leu missense AKAP13 1 83334 1.19999E-5 41667 0 2.52283E-5
15-86076850-T-C p.Cys73Arg missense AKAP13 5 83336 5.99981E-5 41668 0 5.04032E-4
15-86076851-G-A p.Cys73Tyr missense AKAP13 1 83336 1.19996E-5 41668 0 6.36821E-5
15-86076853-G-A p.Ala74Thr missense AKAP13 1 83340 1.1999E-5 41670 0 NA
15-86076854-C-G p.Ala74Gly missense AKAP13 4 83344 4.79939E-5 41672 0 1.27356E-4
15-86076873-C-T p.Pro80Pro synonymous AKAP13 2 83358 2.39929E-5 41679 0 3.3048E-5
15-86076874-G-A p.Val81Met missense AKAP13 2 83360 2.39923E-5 41680 0 3.1835E-5
15-86076886-G-T p.Ala85Ser missense AKAP13 9 83372 1.0795E-4 41686 0 3.87565E-4
15-86076888-T-A p.Ala85Ala synonymous AKAP13 1 83368 1.1995E-5 41684 0 8.24416E-6
15-86076891-A-G p.Glu86Glu synonymous AKAP13 1 83374 1.19941E-5 41687 0 NA
15-86076894-A-C p.Glu87Asp missense AKAP13 2 83380 2.39866E-5 41690 0 NA
15-86076896-A-G p.Asp88Gly missense AKAP13 2 83374 2.39883E-5 41687 0 NA
15-86076907-G-A p.Val92Ile missense AKAP13 10 83382 1.1993E-4 41691 0 3.29516E-4
15-86076914-A-G p.Asp94Gly missense AKAP13 1 83388 1.19921E-5 41694 0 NA
15-86076920-C-T p.Ala96Val missense AKAP13 1 83394 1.19913E-5 41697 0 8.23655E-6
15-86076921-G-A p.Ala96Ala synonymous AKAP13 2 83392 2.39831E-5 41696 0 3.18573E-5
15-86076922-T-C p.Tyr97His missense AKAP13 6 83392 7.19493E-5 41696 0 3.18451E-5
15-86076923-A-G p.Tyr97Cys missense AKAP13 3 83388 3.59764E-5 41694 0 1.98829E-5
15-86076939-C-T p.Phe102Phe synonymous AKAP13 4 83386 4.79697E-5 41693 0 9.55171E-5
15-86076940-C-A p.Leu103Ile missense AKAP13 3 83388 3.59764E-5 41694 0 1.64728E-5
15-86076941-T-C p.Leu103Pro missense AKAP13 1 83390 1.19918E-5 41695 0 NA
15-86076946-A-G p.Thr105Ala missense AKAP13 2 83382 2.3986E-5 41691 0 5.03525E-4
15-86076948-C-G p.Thr105Thr synonymous AKAP13 1 83380 1.19933E-5 41690 0 NA
15-86076959-A-G p.Asn109Ser missense AKAP13 1 83378 1.19936E-5 41689 0 0.00100705
15-86076960-TC-T p.Gln110fs frameshift AKAP13 1 83378 1.19936E-5 41689 0 3.97671E-6
15-86076977-T-G p.Phe115Cys missense AKAP13 1 83370 1.19947E-5 41685 0 6.37267E-5
15-86076978-T-C p.Phe115Phe synonymous AKAP13 2 83370 2.39894E-5 41685 0 3.97697E-6
15-86076980-C-T p.Thr116Ile missense AKAP13 2 83360 2.39923E-5 41680 0 7.95412E-6
15-86076982-C-T p.Arg117Cys missense AKAP13 1 83358 1.19964E-5 41679 0 2.47353E-5
15-86076983-G-A p.Arg117His missense AKAP13 2 83360 2.39923E-5 41680 0 3.18634E-5
15-86076988-C-T p.Leu119Phe missense AKAP13 1 83350 1.19976E-5 41675 0 3.18512E-5
15-86076993-C-G p.Asp120Glu missense AKAP13 1 83344 1.19985E-5 41672 0 NA
15-86076998-C-G p.Ser122* stop_gained AKAP13 1 83334 1.19999E-5 41667 0 NA
15-86076999-A-G p.Ser122Ser synonymous AKAP13 2 83334 2.39998E-5 41667 0 NA
15-86077001-G-T p.Gly123Val missense AKAP13 1 83334 1.19999E-5 41667 0 5.03525E-4
15-86077016-A-C p.Asp128Ala missense AKAP13 2 83300 2.40096E-5 41650 0 1.99318E-5
15-86077038-G-T p.Lys135Asn missense AKAP13 5 83174 6.01149E-5 41587 0 1.27356E-4
15-86077057-C-T p.His142Tyr missense AKAP13 1 83064 1.20389E-5 41532 0 NA
15-86077068-G-C p.Leu145Leu synonymous AKAP13 1 82932 1.20581E-5 41466 0 NA
15-86077073-C-T p.Thr147Met missense AKAP13 5 82892 6.03195E-5 41446 0 5.21222E-5
15-86077077-G-A p.Glu148Glu synonymous AKAP13 1 82812 1.20755E-5 41406 0 NA
15-86077087-T-C p.Leu152Leu synonymous AKAP13 5 82602 6.05312E-5 41301 0 6.25E-4
15-86077097-A-G p.Asp155Gly missense AKAP13 137 82260 0.00166545 41130 0 0.00453172
15-86077124-A-G p.Tyr164Cys missense AKAP13 2 81192 2.4633E-5 40596 0 3.18593E-5
15-86077129-C-G p.Leu166Val missense AKAP13 1 80952 1.2353E-5 40476 0 NA
15-86077135-A-G p.Thr168Ala missense AKAP13 2 80710 2.47801E-5 40355 0 5.29841E-6
15-86077140-C-CT p.Lys171fs frameshift AKAP13 1 80438 1.24319E-5 40219 0 5.57606E-6
15-86077162-C-CT p.Ter180fs frameshift AKAP13 6 78596 7.63398E-5 39298 0 0.00440059
15-86077162-CT-C p.Ter180fs frameshift AKAP13 2 78744 2.53988E-5 39372 0 0.00237826
15-86077164-T-C p.Leu177Leu synonymous AKAP13 433 78662 0.00550456 39331 2 0.0126809
15-86077167-T-C p.Phe178Phe synonymous AKAP13 1 78370 1.276E-5 39185 0 NA
15-86077171-T-A p.Ter180Lysext*? stop_lost AKAP13 1 77708 1.28687E-5 38854 0 6.82352E-6
15-86077173-A-G p.Ter180Ter stop_retained AKAP13 3 77464 3.87277E-5 38732 0 3.40588E-5
15-86086995-A-G c.479-8A>G splice_region AKAP13 1 83160 1.2025E-5 41580 0 6.10022E-5
15-86086998-T-A c.479-5T>A splice_region AKAP13 1 83178 1.20224E-5 41589 0 1.68387E-5
15-86087003-A-G p.Asp160Gly missense+splice_region AKAP13 2 83202 2.40379E-5 41601 0 1.23611E-5
15-86087005-G-A p.Ala161Thr missense+splice_region AKAP13 3 83200 3.60577E-5 41600 0 9.55353E-5
15-86087008-G-C p.Gly162Arg missense AKAP13 2 83200 2.40385E-5 41600 0 4.11076E-6
15-86087010-C-A p.Gly162Gly synonymous AKAP13 2 83208 2.40361E-5 41604 0 8.2314E-6
15-86087013-G-A p.Pro163Pro synonymous AKAP13 5 83218 6.00832E-5 41609 0 3.3849E-5
15-86087014-C-G p.Arg164Gly missense AKAP13 12 83226 1.44186E-4 41613 0 4.08173E-6
15-86087015-G-A p.Arg164Gln missense AKAP13 2 83228 2.40304E-5 41614 0 6.37105E-5
15-86087028-G-T p.Met168Ile missense AKAP13 1 83266 1.20097E-5 41633 0 5.03525E-4
15-86087039-T-C p.Val172Ala missense AKAP13 1 83270 1.20091E-5 41635 0 3.18593E-5
15-86087046-G-A p.Leu174Leu synonymous AKAP13 43 83278 5.16343E-4 41639 0 8.11809E-4
15-86087051-T-C p.Leu176Pro missense AKAP13 1 83276 1.20083E-5 41638 0 NA
15-86087055-G-A p.Leu177Leu synonymous AKAP13 2 83282 2.40148E-5 41641 0 6.12005E-4
15-86087064-G-A p.Thr180Thr synonymous AKAP13 2 83290 2.40125E-5 41645 0 1.03441E-4
15-86087087-G-A p.Gly188Asp missense AKAP13 2 83280 2.40154E-5 41640 0 8.25042E-6
15-86087092-C-T p.Arg190Cys missense AKAP13 47 83266 5.64456E-4 41633 0 0.0025
15-86087093-G-A p.Arg190His missense AKAP13 4 83270 4.80365E-5 41635 0 3.18512E-5
15-86087094-C-T p.Arg190Arg synonymous AKAP13 2 83274 2.40171E-5 41637 0 4.12466E-5
15-86087095-G-A p.Gly191Arg missense AKAP13 1161 83278 0.0139413 41639 12 0.0122363
15-86087099-C-T p.Ala192Val missense AKAP13 42 83290 5.04262E-4 41645 0 7.32764E-4
15-86087105-G-T p.Ser194Ile missense AKAP13 1 83302 1.20045E-5 41651 0 NA
15-86087107-A-G p.Ile195Val missense AKAP13 4 83314 4.80111E-5 41657 0 3.18593E-5
15-86087112-C-G p.His196Gln missense AKAP13 10 83312 1.20031E-4 41656 0 6.36461E-5
15-86087116-C-A p.Gln198Lys missense AKAP13 1 83306 1.20039E-5 41653 0 3.18573E-5
15-86087127-G-A p.Ala201Ala synonymous AKAP13 6 83302 7.20271E-5 41651 0 0.0015121
15-86087130-G-A p.Thr202Thr synonymous AKAP13 5 83298 6.00254E-5 41649 0 5.03525E-4
15-86087153-G-C p.Arg210Pro missense AKAP13 1 83270 1.20091E-5 41635 0 NA
15-86087153-G-T p.Arg210Leu missense AKAP13 1 83270 1.20091E-5 41635 0 8.25355E-6
15-86087161-C-G p.His213Asp missense AKAP13 1 83268 1.20094E-5 41634 0 NA
15-86087167-C-G p.Leu215Val missense AKAP13 83 83238 9.97141E-4 41619 0 0.00100806
15-86087169-G-A p.Leu215Leu synonymous AKAP13 3 83228 3.60456E-5 41614 0 5.04032E-4
15-86087181-A-G p.Leu219Leu synonymous AKAP13 3 83194 3.60603E-5 41597 0 3.99205E-5
15-86087184-C-T p.Thr220Thr splice_region+synonymous AKAP13 3 83170 3.60707E-5 41585 0 6.37186E-5
15-86087187-G-GGAGAATGCTGGAGAACCAGACTCCTGGAGCAGTTTA c.662+1_662+2insGAGAATGCTGGAGAACCAGACTCCTGGAGCAGTTTA splice_donor AKAP13 1 83134 1.20288E-5 41567 0 NA
15-86087187-G-GGAGAA c.662+1_662+2insGAGAA splice_donor AKAP13 1 83136 1.20285E-5 41568 0 NA
15-86087187-G-T c.662+1G>T splice_donor AKAP13 1 83136 1.20285E-5 41568 0 8.26679E-6
15-86087194-C-T c.662+8C>T splice_region AKAP13 2 83032 2.40871E-5 41516 0 NA
15-86087277-T-C p.Cys3Arg missense AKAP13 4 77622 5.15318E-5 38811 0 3.18451E-5
15-86087280-T-G p.Leu4Val missense AKAP13 1 77278 1.29403E-5 38639 0 NA
15-86087284-C-T p.Pro5Leu missense AKAP13 6 76460 7.84724E-5 38230 0 4.18356E-4
15-86087308-A-G p.Tyr13Cys missense AKAP13 11 72270 1.52207E-4 36135 0 6.33955E-6
15-86087309-T-C p.Tyr13Tyr synonymous AKAP13 19032 29818 0.638272 14909 5186 0.87875
15-86087339-G-T p.Leu23Phe missense AKAP13 1 63706 1.56971E-5 31853 0 6.36943E-5
15-86087345-G-A p.Leu25Leu synonymous AKAP13 3 61606 4.86966E-5 30803 0 7.35067E-5
15-86087356-C-A p.Ser29* stop_gained AKAP13 1 55354 1.80655E-5 27677 0 NA
15-86087358-TTGTC-T p.Ser31fs frameshift AKAP13 1 54390 1.83857E-5 27195 0 NA
15-86087374-C-T p.Thr35Met missense+splice_region AKAP13 2 47146 4.24214E-5 23573 0 1.59016E-4
15-86087375-G-A c.104+1G>A splice_donor AKAP13 1 46602 2.14583E-5 23301 0 NA
15-86087376-T-G c.104+2T>G splice_donor AKAP13 1 46194 2.16478E-5 23097 0 1.59744E-4
15-86087381-CG-C c.104+8delG splice_region AKAP13 7 43504 1.60905E-4 21752 0 4.46144E-4
15-86098686-T-C p.Met3Thr missense AKAP13 2 32940 6.07165E-5 16470 0 1.56162E-5
15-86098690-C-T p.Gly4Gly synonymous AKAP13 2 32934 6.07275E-5 16467 0 3.18532E-5
15-86098694-C-T p.Arg6* stop_gained AKAP13 1 32864 3.04284E-5 16432 0 3.18492E-5
15-86098695-G-A p.Arg6Gln missense AKAP13 2 32886 6.08162E-5 16443 0 6.37105E-5
15-86098718-C-T p.His14Tyr missense AKAP13 1 32708 3.05736E-5 16354 0 3.12319E-5
15-86098723-G-GGAGAA c.44+1_44+2insGAGAA splice_donor AKAP13 1 32656 3.06222E-5 16328 0 NA
15-86118354-G-A c.663-8G>A splice_region AKAP13 1 83118 1.20311E-5 41559 0 NA
15-86118354-G-C c.663-8G>C splice_region AKAP13 2 83118 2.40622E-5 41559 0 1.59241E-5
15-86118372-G-C p.Gly225Arg missense AKAP13 1 83174 1.2023E-5 41587 0 1.27306E-4
15-86118380-A-C p.Pro227Pro synonymous AKAP13 1 83192 1.20204E-5 41596 0 NA
15-86118382-A-G p.Asp228Gly missense AKAP13 1 83186 1.20213E-5 41593 0 NA
15-86118384-T-C p.Ser229Pro missense AKAP13 1 83192 1.20204E-5 41596 0 NA
15-86118385-C-T p.Ser229Phe missense AKAP13 1 83196 1.20198E-5 41598 0 NA
15-86118398-A-T p.Leu233Phe missense AKAP13 1 83242 1.20132E-5 41621 0 NA
15-86118403-A-G p.Tyr235Cys missense AKAP13 3 83260 3.60317E-5 41630 0 0.00151057
15-86118412-C-T p.Pro238Leu missense AKAP13 3 83284 3.60213E-5 41642 0 3.29462E-5
15-86118413-G-A p.Pro238Pro synonymous AKAP13 5 83292 6.00298E-5 41646 0 1.59317E-4
15-86118413-G-C p.Pro238Pro synonymous AKAP13 3 83292 3.60179E-5 41646 0 4.94193E-5
15-86118415-A-C p.Tyr239Ser missense AKAP13 40 83296 4.80215E-4 41648 0 0.00352467
15-86118418-G-A p.Gly240Glu missense AKAP13 1 83300 1.20048E-5 41650 0 5.03525E-4
15-86118419-A-G p.Gly240Gly synonymous AKAP13 2 83306 2.40079E-5 41653 0 NA
15-86118444-G-C p.Glu249Gln missense AKAP13 1 83326 1.20011E-5 41663 0 NA
15-86118445-A-T p.Glu249Val missense AKAP13 18 83330 2.16009E-4 41665 0 0.00106572
15-86118452-C-T p.Asp251Asp synonymous AKAP13 4 83342 4.7995E-5 41671 0 3.18593E-5
15-86118461-A-G p.Thr254Thr synonymous AKAP13 4 83338 4.79973E-5 41669 0 NA
15-86118467-C-T p.Thr256Thr synonymous AKAP13 1 83342 1.19988E-5 41671 0 3.97659E-6
15-86118485-T-C p.His262His synonymous AKAP13 18 83364 2.15921E-4 41682 0 8.35083E-5
15-86118489-G-A p.Glu264Lys missense AKAP13 2 83362 2.39917E-5 41681 0 NA
15-86118491-A-G p.Glu264Glu synonymous AKAP13 1 83362 1.19959E-5 41681 0 3.18492E-5
15-86118494-C-T p.His265His synonymous AKAP13 1 83364 1.19956E-5 41682 0 8.23642E-6
15-86118497-A-G p.Pro266Pro synonymous AKAP13 1 83370 1.19947E-5 41685 0 3.18634E-5
15-86118504-G-A p.Gly269Arg missense AKAP13 1 83374 1.19941E-5 41687 0 NA
15-86118508-A-G p.Asp270Gly missense AKAP13 1 83366 1.19953E-5 41683 0 NA
15-86118509-C-T p.Asp270Asp synonymous AKAP13 5 83364 5.99779E-5 41682 0 3.29457E-5
15-86118510-G-A p.Gly271Ser missense AKAP13 1 83356 1.19967E-5 41678 0 1.64731E-5
15-86118512-T-C p.Gly271Gly synonymous AKAP13 4 83354 4.79881E-5 41677 0 NA
15-86118513-T-C p.Cys272Arg missense AKAP13 1 83356 1.19967E-5 41678 0 NA
15-86118514-G-A p.Cys272Tyr missense AKAP13 1 83352 1.19973E-5 41676 0 NA
15-86118516-A-G p.Thr273Ala missense AKAP13 17 83352 2.03954E-4 41676 0 5.03525E-4
15-86118517-C-G p.Thr273Ser missense AKAP13 3 83352 3.59919E-5 41676 0 6.58924E-5
15-86118525-A-G p.Ile276Val missense AKAP13 7 83332 8.40013E-5 41666 0 9.55475E-5
15-86118538-T-C p.Met280Thr missense AKAP13 1 83316 1.20025E-5 41658 0 3.18451E-5
15-86118545-C-G p.Ile282Met missense AKAP13 1 83304 1.20042E-5 41652 0 NA
15-86118548-A-G p.Gln283Gln synonymous AKAP13 1 83286 1.20068E-5 41643 0 8.23954E-6
15-86118558-A-AAT p.Met287fs frameshift AKAP13 1 83238 1.20137E-5 41619 0 NA
15-86118560-G-A p.Met287Ile missense+splice_region AKAP13 2 83226 2.4031E-5 41613 0 2.47361E-5
15-86118564-A-T c.861+4A>T splice_region AKAP13 4 83180 4.80885E-5 41590 0 NA
15-86122165-C-G p.Thr289Arg missense AKAP13 1 83256 1.20111E-5 41628 0 NA
15-86122171-T-C p.Leu291Pro missense AKAP13 6 83266 7.20582E-5 41633 0 3.206E-5
15-86122179-A-G p.Met294Val missense AKAP13 1 83298 1.20051E-5 41649 0 1.19906E-5
15-86122186-G-A p.Ser296Asn missense AKAP13 1 83312 1.20031E-5 41656 0 NA
15-86122192-T-C p.Met298Thr missense AKAP13 2 83314 2.40056E-5 41657 0 NA
15-86122198-T-C p.Leu300Ser missense AKAP13 1 83326 1.20011E-5 41663 0 3.18634E-5
15-86122204-T-C p.Met302Thr missense AKAP13 2 83334 2.39998E-5 41667 0 3.97842E-6
15-86122213-A-G p.Gln305Arg missense AKAP13 1 83330 1.20005E-5 41665 0 7.95539E-6
15-86122215-G-T p.Asp306Tyr missense AKAP13 1 83330 1.20005E-5 41665 0 NA
15-86122219-C-A p.Pro307His missense AKAP13 1 83336 1.19996E-5 41668 0 NA
15-86122223-C-T p.Ser308Ser synonymous AKAP13 1 83334 1.19999E-5 41667 0 NA
15-86122230-C-T p.Pro311Ser missense AKAP13 2 83328 2.40015E-5 41664 0 NA
15-86122248-T-C p.Phe317Leu missense AKAP13 6 83290 7.20375E-5 41645 0 3.18735E-5
15-86122250-T-C p.Phe317Phe synonymous AKAP13 26 83274 3.12222E-4 41637 0 2.7845E-4
15-86122265-G-A p.Pro322Pro synonymous AKAP13 14 83232 1.68205E-4 41616 0 1.67123E-4
15-86122268-G-A p.Glu323Glu synonymous AKAP13 1 83240 1.20135E-5 41620 0 NA
15-86122273-C-G p.Thr325Arg missense AKAP13 4 83226 4.80619E-5 41613 0 NA
15-86122274-G-A p.Thr325Thr synonymous AKAP13 1 83226 1.20155E-5 41613 0 1.98961E-5
15-86122283-G-A p.Gln328Gln synonymous AKAP13 1 83226 1.20155E-5 41613 0 1.64883E-5
15-86122284-C-A p.Arg329Arg synonymous AKAP13 1 83214 1.20172E-5 41607 0 NA
15-86122285-G-A p.Arg329Gln missense AKAP13 4 83218 4.80665E-5 41609 0 6.59554E-5
15-86122291-C-T p.Ser331Phe missense AKAP13 65 83220 7.81062E-4 41610 0 0.00171996
15-86122299-G-A p.Glu334Lys missense AKAP13 251 83196 0.00301697 41598 5 0.00710327
15-86122304-G-A p.Glu335Glu synonymous AKAP13 1 83202 1.20189E-5 41601 0 NA
15-86122309-A-G p.Glu337Gly missense AKAP13 1 83210 1.20178E-5 41605 0 8.24429E-6
15-86122314-A-T p.Thr339Ser missense AKAP13 18 83208 2.16325E-4 41604 0 8.31536E-4
15-86122325-C-T p.Cys342Cys synonymous AKAP13 1 83214 1.20172E-5 41607 0 NA
15-86122330-G-A p.Gly344Glu missense AKAP13 5 83232 6.0073E-5 41616 0 0.001875
15-86122333-G-A p.Ser345Asn missense AKAP13 1 83234 1.20143E-5 41617 0 NA
15-86122333-G-C p.Ser345Thr missense AKAP13 2 83234 2.40286E-5 41617 0 1.27445E-4
15-86122336-C-T p.Pro346Leu missense AKAP13 1 83246 1.20126E-5 41623 0 NA
15-86122349-T-C p.Thr350Thr synonymous AKAP13 1 83256 1.20111E-5 41628 0 NA
15-86122362-G-C p.Asp355His missense AKAP13 6 83268 7.20565E-5 41634 1 NA
15-86122370-A-C p.Ser357Ser synonymous AKAP13 6 83244 7.20773E-5 41622 0 1.23328E-4
15-86122379-TGAG-T p.Glu363del conservative_inframe_deletion AKAP13 1 83228 1.20152E-5 41614 0 8.24063E-6
15-86122381-A-C p.Glu361Ala missense AKAP13 1 83224 1.20158E-5 41612 0 1.64804E-5
15-86122382-G-C p.Glu361Asp missense AKAP13 2 83222 2.40321E-5 41611 0 8.24035E-6
15-86122385-G-A p.Glu362Glu synonymous AKAP13 2 83216 2.40338E-5 41608 0 6.37146E-5
15-86122388-G-C p.Glu363Asp missense AKAP13 7 83224 8.41104E-5 41612 0 5.03525E-4
15-86122394-A-G p.Thr365Thr synonymous AKAP13 1 83204 1.20187E-5 41602 0 NA
15-86122398-C-T p.Arg367Cys missense AKAP13 2 83198 2.4039E-5 41599 0 1.59184E-5
15-86122398-C-G p.Arg367Gly missense AKAP13 1 83198 1.20195E-5 41599 0 3.21347E-4
15-86122399-G-A p.Arg367His missense AKAP13 11 83190 1.32227E-4 41595 0 5.57152E-5
15-86122402-C-T p.Ser368Phe missense AKAP13 3 83180 3.60664E-5 41590 0 2.38768E-5
15-86122411-A-G p.Lys371Arg missense AKAP13 1 83142 1.20276E-5 41571 0 8.24103E-6
15-86122418-T-C p.Asn373Asn synonymous AKAP13 1 83120 1.20308E-5 41560 0 NA
15-86122419-A-G p.Lys374Glu missense AKAP13 1 83128 1.20296E-5 41564 0 8.24131E-6
15-86122423-G-A p.Gly375Asp missense AKAP13 5 83096 6.01714E-5 41548 0 8.24198E-6
15-86122424-C-T p.Gly375Gly synonymous AKAP13 1 83072 1.20378E-5 41536 0 NA
15-86122425-G-A p.Val376Met missense AKAP13 155 83084 0.00186558 41542 1 0.0060423
15-86122438-G-C p.Gly380Ala missense AKAP13 9 83068 1.08345E-4 41534 0 4.4988E-4
15-86122447-T-C p.Val383Ala missense AKAP13 1 83056 1.20401E-5 41528 0 3.98127E-6
15-86122458-C-A p.Pro387Thr missense AKAP13 2 83074 2.40749E-5 41537 0 NA
15-86122464-G-A p.Val389Met missense AKAP13 1 83070 1.2038E-5 41535 0 3.18532E-5
15-86122467-G-A p.Asp390Asn missense AKAP13 1 83066 1.20386E-5 41533 0 9.06798E-5
15-86122473-G-C p.Gly392Arg missense AKAP13 11 83092 1.32383E-4 41546 0 6.3713E-5
15-86122481-A-G p.Val394Val synonymous AKAP13 8 83100 9.62696E-5 41550 0 1.19456E-5
15-86122483-C-G p.Ser395Cys missense AKAP13 8 83102 9.62672E-5 41551 0 5.93628E-4
15-86122486-A-G p.Asp396Gly missense AKAP13 1 83104 1.20331E-5 41552 0 8.24498E-6
15-86122494-A-G p.Ser399Gly missense AKAP13 1 83124 1.20302E-5 41562 0 8.24498E-6
15-86122511-G-A p.Leu404Leu synonymous AKAP13 1 83136 1.20285E-5 41568 0 NA
15-86122519-G-A p.Cys407Tyr missense AKAP13 1 83126 1.20299E-5 41563 0 8.24552E-6
15-86122524-G-A p.Val409Ile missense AKAP13 1 83130 1.20294E-5 41565 0 NA
15-86122528-A-G p.Lys410Arg missense AKAP13 4 83130 4.81174E-5 41565 0 1.19435E-5
15-86122529-G-A p.Lys410Lys synonymous AKAP13 431 83132 0.00518453 41566 3 0.00453172
15-86122532-C-T p.Gly411Gly synonymous AKAP13 2 83126 2.40599E-5 41563 0 NA
15-86122534-C-T p.Thr412Met missense AKAP13 1 83112 1.2032E-5 41556 0 1.64913E-5
15-86122535-G-A p.Thr412Thr synonymous AKAP13 75 83124 9.02266E-4 41562 0 5.17528E-4
15-86122541-C-G p.Gly414Gly synonymous AKAP13 1 83134 1.20288E-5 41567 0 3.29815E-5
15-86122541-C-T p.Gly414Gly synonymous AKAP13 1 83134 1.20288E-5 41567 0 NA
15-86122547-G-A p.Ser416Ser synonymous AKAP13 12 83134 1.44345E-4 41567 0 6.36902E-5
15-86122552-G-C p.Cys418Ser missense AKAP13 1 83146 1.2027E-5 41573 0 1.59198E-5
15-86122552-G-T p.Cys418Phe missense AKAP13 1 83146 1.2027E-5 41573 0 NA
15-86122572-A-G p.Thr425Ala missense AKAP13 1 83148 1.20267E-5 41574 0 NA
15-86122579-C-G p.Thr427Arg missense AKAP13 1 83156 1.20256E-5 41578 0 3.18352E-5
15-86122597-C-G p.Pro433Arg missense AKAP13 1 83162 1.20247E-5 41581 0 7.16121E-5
15-86122604-C-A p.Asp435Glu missense AKAP13 5 83160 6.01251E-5 41580 0 3.73954E-4
15-86122614-C-T p.Leu439Leu synonymous AKAP13 1 83164 1.20244E-5 41582 0 8.23954E-6
15-86122615-T-C p.Leu439Pro missense AKAP13 1 83166 1.20241E-5 41583 0 NA
15-86122620-A-G p.Ser441Gly missense AKAP13 2 83160 2.405E-5 41580 0 8.23968E-6
15-86122625-A-G p.Gly442Gly synonymous AKAP13 1 83150 1.20265E-5 41575 0 1.19339E-5
15-86122634-G-A p.Val445Val synonymous AKAP13 6 83134 7.21726E-5 41567 0 2.47162E-5
15-86122640-G-GAAGA p.Arg448fs frameshift AKAP13 1 83136 1.20285E-5 41568 0 NA
15-86122648-T-C p.Leu450Ser missense AKAP13 1 83146 1.2027E-5 41573 0 5.56988E-5
15-86122653-A-G p.Met452Val missense AKAP13 2 83128 2.40593E-5 41564 0 3.97842E-6
15-86122653-AT-GC p.Met452Ala missense AKAP13 1 83128 1.20296E-5 41564 0 NA
15-86122654-T-C p.Met452Thr missense AKAP13 53320 82758 0.644288 41379 17364 0.676875
15-86122655-G-A p.Met452Ile missense AKAP13 1 83124 1.20302E-5 41562 0 NA
15-86122658-G-A p.Glu453Glu synonymous AKAP13 2 83102 2.40668E-5 41551 0 NA
15-86122659-C-T p.Pro454Ser missense AKAP13 2 83092 2.40697E-5 41546 0 3.97918E-6
15-86122664-C-G p.Gly455Gly synonymous AKAP13 2 83074 2.40749E-5 41537 0 8.23873E-6
15-86122684-G-A p.Gly462Glu missense AKAP13 1 82964 1.20534E-5 41482 0 NA
15-86122707-A-G p.Thr470Ala missense AKAP13 1 82702 1.20916E-5 41351 0 8.24144E-6
15-86122720-G-C p.Ser474Thr missense AKAP13 2 82550 2.42277E-5 41275 0 8.24239E-6
15-86122723-C-G p.Thr475Ser missense AKAP13 1 82526 1.21174E-5 41263 0 7.97226E-6
15-86122726-C-CAGA p.Pro476_Asp477insGlu disruptive_inframe_insertion AKAP13 1 82498 1.21215E-5 41249 0 3.98661E-6
15-86122733-T-A p.Thr478Thr synonymous AKAP13 2 82418 2.42665E-5 41209 0 NA
15-86122738-G-A p.Gly480Glu missense AKAP13 1 82380 1.21389E-5 41190 0 NA
15-86122742-A-G p.Glu481Glu synonymous AKAP13 1 82352 1.2143E-5 41176 0 6.37064E-5
15-86122751-T-C p.His484His synonymous AKAP13 1 82320 1.21477E-5 41160 0 3.18451E-5
15-86122757-C-T p.Leu486Leu synonymous AKAP13 3 82318 3.6444E-5 41159 0 7.41962E-5
15-86122758-A-G p.Met487Val missense AKAP13 1 82326 1.21468E-5 41163 0 3.18431E-5
15-86122760-G-A p.Met487Ile missense AKAP13 45 82314 5.46687E-4 41157 0 0.00151057
15-86122765-C-T p.Pro489Leu missense AKAP13 183 82310 0.0022233 41155 1 0.00625
15-86122779-T-C p.Trp494Arg missense AKAP13 54951 81970 0.670379 40985 18610 0.69625
15-86122779-TG-CA p.Trp494Gln missense AKAP13 1 82402 1.21356E-5 41201 0 NA
15-86122783-A-G p.Lys495Arg missense AKAP13 1 82450 1.21286E-5 41225 0 3.98734E-6
15-86122785-A-T p.Asn496Tyr missense AKAP13 1 82464 1.21265E-5 41232 0 1.99373E-5
15-86122790-G-A p.Val497Val synonymous AKAP13 514 82476 0.00623212 41238 11 0.0132174
15-86122798-G-C p.Gly500Ala missense AKAP13 1 82552 1.21136E-5 41276 0 NA
15-86122807-G-A p.Ser503Asn missense AKAP13 5 82644 6.05005E-5 41322 0 6.25E-4
15-86122819-G-C p.Arg507Thr missense AKAP13 4 82766 4.8329E-5 41383 0 1.19535E-5
15-86122824-G-A p.Glu509Lys missense AKAP13 1 82786 1.20793E-5 41393 0 8.2545E-6
15-86122829-C-G p.Asn510Lys missense AKAP13 1 82790 1.20788E-5 41395 0 NA
15-86122833-A-G p.Asn512Asp missense AKAP13 4 82854 4.82777E-5 41427 0 8.25423E-6
15-86122843-C-T p.Thr515Ile missense AKAP13 1 82916 1.20604E-5 41458 0 NA
15-86122844-A-G p.Thr515Thr synonymous AKAP13 1 82930 1.20584E-5 41465 0 3.18492E-5
15-86122849-G-A p.Gly517Glu missense AKAP13 2 82948 2.41115E-5 41474 0 3.18613E-5
15-86122855-C-G p.Ser519Cys missense AKAP13 1 82982 1.20508E-5 41491 0 3.98118E-6
15-86122859-C-T p.Asp520Asp synonymous AKAP13 2 82984 2.4101E-5 41492 0 6.37186E-5
15-86122860-G-A p.Val521Met missense AKAP13 7 82986 8.43516E-5 41493 0 3.18593E-5
15-86122860-G-C p.Val521Leu missense AKAP13 1 82986 1.20502E-5 41493 0 1.65104E-5
15-86122865-C-T p.His522His synonymous AKAP13 3 83006 3.6142E-5 41503 0 3.30246E-5
15-86122866-G-A p.Val523Ile missense AKAP13 1 83004 1.20476E-5 41502 0 1.59267E-5
15-86122875-A-C p.Lys526Gln missense AKAP13 2176 83020 0.0262106 41510 43 0.0281974
15-86122879-C-G p.Pro527Arg missense AKAP13 8 83068 9.63066E-5 41534 0 5.73431E-4
15-86122894-G-T p.Ser532Ile missense AKAP13 2 83086 2.40714E-5 41543 0 8.25464E-6
15-86122909-C-T p.Ala537Val missense AKAP13 20 83106 2.40657E-4 41553 0 5.73394E-4
15-86122916-T-C p.Ala539Ala synonymous AKAP13 53294 82762 0.643943 41381 17338 0.678125
15-86122916-TG-CT p.AlaAla539AlaSer missense AKAP13 1 83110 1.20322E-5 41555 0 NA
15-86122917-G-A p.Ala540Thr missense AKAP13 1 83110 1.20322E-5 41555 0 NA
15-86122932-G-A p.Gly545Ser missense AKAP13 1 83136 1.20285E-5 41568 0 NA
15-86122938-A-C p.Lys547Gln missense AKAP13 1 83136 1.20285E-5 41568 0 6.36821E-5
15-86122946-T-C p.Ala549Ala synonymous AKAP13 2 83134 2.40575E-5 41567 0 3.97905E-6
15-86122948-A-C p.Glu550Ala missense AKAP13 1 83140 1.20279E-5 41570 0 NA
15-86122955-A-G p.Ser552Ser synonymous AKAP13 1 83142 1.20276E-5 41571 0 NA
15-86122956-C-T p.Leu553Phe missense AKAP13 1 83148 1.20267E-5 41574 0 NA
15-86122960-C-G p.Ala554Gly missense AKAP13 26 83146 3.12703E-4 41573 0 6.36943E-4
15-86122961-A-G p.Ala554Ala synonymous AKAP13 1 83156 1.20256E-5 41578 0 NA
15-86122965-A-G p.Ser556Gly missense AKAP13 1 83138 1.20282E-5 41569 0 NA
15-86122966-G-A p.Ser556Asn missense AKAP13 36 83134 4.33036E-4 41567 0 1.23832E-4
15-86122970-T-C p.Asn557Asn synonymous AKAP13 1681 83120 0.0202238 41560 27 0.030715
15-86122975-A-G p.Glu559Gly missense AKAP13 1 83134 1.20288E-5 41567 0 6.25E-4
15-86122978-C-T p.Thr560Ile missense AKAP13 11 83128 1.32326E-4 41564 0 5.03525E-4
15-86122979-C-T p.Thr560Thr synonymous AKAP13 2 83112 2.40639E-5 41556 0 2.78549E-5
15-86122986-G-GA p.Thr565fs frameshift AKAP13 3 83090 3.61054E-5 41545 0 NA
15-86122989-A-G p.Lys564Glu missense AKAP13 2 83084 2.4072E-5 41542 0 8.25478E-6
15-86123002-C-T p.Thr568Met missense AKAP13 3 83008 3.61411E-5 41504 0 1.65085E-5
15-86123008-C-T p.Thr570Ile missense AKAP13 1 82966 1.20531E-5 41483 0 NA
15-86123016-A-T p.Ser573Cys missense AKAP13 1 82856 1.20691E-5 41428 0 NA
15-86123019-C-T p.Arg574Cys missense AKAP13 52972 82340 0.643333 41170 17207 0.678125
15-86123020-G-T p.Arg574Leu missense AKAP13 1 82788 1.2079E-5 41394 0 3.18471E-5
15-86123020-G-A p.Arg574His missense AKAP13 1 82788 1.2079E-5 41394 0 6.36943E-5
15-86123038-C-T p.Ala580Val missense AKAP13 1 82522 1.2118E-5 41261 0 7.96819E-6
15-86123038-C-G p.Ala580Gly missense AKAP13 1 82522 1.2118E-5 41261 0 3.9841E-6
15-86123043-G-C p.Val582Leu missense AKAP13 4 82464 4.8506E-5 41232 0 1.99249E-5
15-86123048-T-C p.Asp583Asp synonymous AKAP13 1 82432 1.21312E-5 41216 0 NA
15-86123049-C-A p.Gln584Lys missense AKAP13 2 82410 2.42689E-5 41205 0 0.001875
15-86123050-A-C p.Gln584Pro missense AKAP13 1 82400 1.21359E-5 41200 0 3.98502E-6
15-86123060-G-C p.Val587Val synonymous AKAP13 3 82308 3.64485E-5 41154 0 7.97245E-6
15-86123061-G-A p.Val588Met missense AKAP13 1 82276 1.21542E-5 41138 0 8.27869E-6
15-86123067-C-G p.Pro590Ala missense AKAP13 2 82194 2.43327E-5 41097 0 8.28007E-6
15-86123067-C-A p.Pro590Thr missense AKAP13 1 82194 1.21663E-5 41097 0 9.55475E-5
15-86123072-T-C p.Ala591Ala synonymous AKAP13 1 82168 1.21702E-5 41084 0 3.98638E-6
15-86123075-T-G p.Ala592Ala synonymous AKAP13 1 82132 1.21755E-5 41066 0 NA
15-86123077-C-G p.Ala593Gly missense AKAP13 97 82086 0.00118169 41043 0 0.00251576
15-86123083-A-G p.Asp595Gly missense AKAP13 2 82164 2.43416E-5 41082 0 5.03525E-4
15-86123085-A-G p.Lys596Glu missense AKAP13 693 82172 0.00843353 41086 17 0.0197415
15-86123094-G-A p.Asp599Asn missense AKAP13 1 82142 1.2174E-5 41071 0 6.36862E-5
15-86123099-A-G p.Gly600Gly synonymous AKAP13 8 82186 9.73402E-5 41093 0 0.00151057
15-86123103-G-A p.Glu602Lys missense AKAP13 4 82174 4.86772E-5 41087 0 3.30978E-5
15-86123107-C-G p.Pro603Arg missense AKAP13 6 82198 7.29945E-5 41099 0 5.03525E-4
15-86123109-T-C p.Tyr604His missense AKAP13 1 82236 1.21601E-5 41118 0 NA
15-86123110-A-G p.Tyr604Cys missense AKAP13 1 82254 1.21575E-5 41127 0 0.00125
15-86123114-T-C p.Thr605Thr synonymous AKAP13 21 82300 2.55164E-4 41150 0 6.25E-4
15-86123115-C-T p.Leu606Phe missense AKAP13 1 82322 1.21474E-5 41161 0 3.18451E-5
15-86123119-TAGC-T p.Ala609del disruptive_inframe_deletion AKAP13 1 82370 1.21403E-5 41185 0 NA
15-86123120-A-C p.Leu607Phe missense AKAP13 1 82396 1.21365E-5 41198 0 NA
15-86123126-A-G p.Ala609Ala synonymous AKAP13 3 82454 3.63839E-5 41227 0 1.27356E-4
15-86123136-G-A p.Glu613Lys missense AKAP13 2 82536 2.42319E-5 41268 0 NA
15-86123146-C-T p.Ser616Leu missense AKAP13 2 82630 2.42043E-5 41315 0 3.30644E-5
15-86123148-C-T p.Pro617Ser missense AKAP13 1 82640 1.21007E-5 41320 0 8.26597E-6
15-86123153-A-G p.Ser618Ser synonymous AKAP13 1 82676 1.20954E-5 41338 0 NA
15-86123154-G-C p.Asp619His missense AKAP13 1 82682 1.20945E-5 41341 0 6.25E-4
15-86123156-T-C p.Asp619Asp synonymous AKAP13 1 82686 1.20939E-5 41343 0 8.26542E-6
15-86123161-C-A p.Ala621Asp missense AKAP13 1 82682 1.20945E-5 41341 0 NA
15-86123170-G-T p.Gly624Val missense AKAP13 22250 82450 0.269861 41225 3464 0.338125
15-86123182-A-T p.Asp628Val missense AKAP13 1 82658 1.2098E-5 41329 0 3.98575E-6
15-86123190-C-T p.Pro631Ser missense AKAP13 1 82624 1.2103E-5 41312 0 3.30753E-5
15-86123195-C-T p.His632His synonymous AKAP13 1 82612 1.21048E-5 41306 0 NA
15-86123197-A-G p.Gln633Arg missense AKAP13 5 82606 6.05283E-5 41303 0 6.25E-4
15-86123199-A-C p.Asn634His missense AKAP13 1 82606 1.21057E-5 41303 0 NA
15-86123202-T-G p.Ser635Ala missense AKAP13 1 82596 1.21071E-5 41298 0 8.27075E-6
15-86123208-A-G p.Thr637Ala missense AKAP13 8 82570 9.68875E-5 41285 0 7.576E-5
15-86123216-A-G p.Ser639Ser synonymous AKAP13 597 82494 0.00723689 41247 6 0.00780006
15-86123227-A-C p.Gln643Pro missense AKAP13 2 82416 2.42671E-5 41208 0 NA
15-86123231-C-T p.Ser644Ser synonymous AKAP13 187 82370 0.00227024 41185 0 0.00178788
15-86123232-C-G p.Gln645Glu missense AKAP13 2 82372 2.42801E-5 41186 0 3.1837E-5
15-86123242-A-T p.Lys648Ile missense AKAP13 1 82320 1.21477E-5 41160 0 NA
15-86123244-T-C p.Ser649Pro missense AKAP13 3 82320 3.64431E-5 41160 0 8.2791E-6
15-86123250-C-T p.Pro651Ser missense AKAP13 16 82348 1.94297E-4 41174 0 2.23515E-4
15-86123261-T-C p.Ser654Ser synonymous AKAP13 1 82408 1.21347E-5 41204 0 NA
15-86123265-A-G p.Thr656Ala missense AKAP13 1 82396 1.21365E-5 41198 0 3.98985E-6
15-86123268-G-A p.Gly657Arg missense AKAP13 7 82408 8.49432E-5 41204 0 6.36821E-5
15-86123273-C-T p.Asp658Asp synonymous AKAP13 2 82422 2.42654E-5 41211 0 5.79825E-5
15-86123297-A-G p.Ala666Ala synonymous AKAP13 3 82582 3.63275E-5 41291 0 NA
15-86123300-T-C p.Cys667Cys synonymous AKAP13 27 82592 3.26908E-4 41296 0 1.91034E-4
15-86123301-C-A p.Gln668Lys missense AKAP13 1 82592 1.21077E-5 41296 0 3.1837E-5
15-86123302-A-C p.Gln668Pro missense AKAP13 2 82610 2.42101E-5 41305 0 NA
15-86123316-A-C p.Thr673Pro missense AKAP13 4 82688 4.83746E-5 41344 0 1.595E-5
15-86123363-C-G p.Ser688Arg missense AKAP13 2 82834 2.41447E-5 41417 0 NA
15-86123364-G-A p.Glu689Lys missense AKAP13 13437 82540 0.162794 41270 1310 0.199375
15-86123365-A-T p.Glu689Val missense AKAP13 12 82828 1.44879E-4 41414 0 9.16444E-5
15-86123368-C-A p.Ser690Tyr missense AKAP13 1 82836 1.2072E-5 41418 0 8.26706E-6
15-86123369-C-T p.Ser690Ser synonymous AKAP13 7 82844 8.44962E-5 41422 0 5.97714E-5
15-86123387-G-T p.Arg696Ser missense AKAP13 1 82940 1.20569E-5 41470 0 NA
15-86123390-A-G p.Gln697Gln synonymous AKAP13 6 82948 7.23345E-5 41474 0 1.99078E-5
15-86123399-A-T p.Ser700Ser synonymous AKAP13 1 82974 1.2052E-5 41487 0 3.58295E-5
15-86123402-A-G p.Gln701Gln synonymous AKAP13 1 82992 1.20494E-5 41496 0 8.25737E-6
15-86123411-C-T p.Pro704Pro synonymous AKAP13 34 83010 4.09589E-4 41505 0 7.00414E-4
15-86123412-G-A p.Asp705Asn missense AKAP13 2 83020 2.40906E-5 41510 0 3.98013E-6
15-86123422-A-AC p.Cys709fs frameshift AKAP13 1 83064 1.20389E-5 41532 0 NA
15-86123425-G-T p.Cys709Phe missense AKAP13 1 83074 1.20375E-5 41537 0 1.65011E-5
15-86123436-C-A p.Gln713Lys missense AKAP13 6 83104 7.21987E-5 41552 0 7.40092E-4
15-86123453-C-T p.Thr718Thr synonymous AKAP13 3 83156 3.60768E-5 41578 0 0.00100705
15-86123457-G-T p.Asp720Tyr missense AKAP13 148 83168 0.00177953 41584 0 0.00452143
15-86123460-CCT-ACC p.Pro721Thr missense AKAP13 1 83180 1.20221E-5 41590 0 NA
15-86123462-T-C p.Pro721Pro synonymous AKAP13 7348 83104 0.0884193 41552 567 0.12328
15-86123463-G-A p.Val722Ile missense AKAP13 1 83188 1.2021E-5 41594 0 8.24375E-6
15-86123466-A-G p.Arg723Gly missense AKAP13 2 83202 2.40379E-5 41601 0 3.97788E-6
15-86123467-G-T p.Arg723Met missense AKAP13 1 83202 1.20189E-5 41601 0 NA
15-86123481-C-T p.Arg728Cys missense AKAP13 1 83212 1.20175E-5 41606 0 3.97798E-6
15-86123485-C-T p.Ala729Val missense AKAP13 3 83208 3.60542E-5 41604 0 3.18492E-5
15-86123486-G-A p.Ala729Ala synonymous AKAP13 2 83206 2.40367E-5 41603 0 8.24362E-6
15-86123488-A-AT p.Cys732fs frameshift AKAP13 1 83218 1.20166E-5 41609 0 NA
15-86123489-T-A p.Asp730Glu missense AKAP13 11 83222 1.32177E-4 41611 0 3.50363E-4
15-86123496-C-T p.Pro733Ser missense AKAP13 8 83216 9.61354E-5 41608 0 7.95691E-6
15-86123496-C-G p.Pro733Ala missense AKAP13 1 83216 1.20169E-5 41608 0 1.40139E-4
15-86123507-G-C p.Val736Val synonymous AKAP13 1 83230 1.20149E-5 41615 0 3.18451E-5
15-86123508-G-A p.Val737Met missense AKAP13 6 83222 7.20963E-5 41611 0 NA
15-86123515-A-G p.Asn739Ser missense AKAP13 2 83226 2.4031E-5 41613 0 NA
15-86123528-A-G p.Arg743Arg synonymous AKAP13 7 83216 8.41184E-5 41608 0 3.29761E-5
15-86123541-C-G p.Leu748Val missense AKAP13 1 83180 1.20221E-5 41590 0 8.24375E-6
15-86123568-G-C p.Glu757Gln missense AKAP13 3 83152 3.60785E-5 41576 0 3.97823E-6
15-86123569-A-G p.Glu757Gly missense AKAP13 44 83162 5.29088E-4 41581 0 8.32413E-4
15-86123576-T-G p.Val759Val synonymous AKAP13 2 83154 2.40518E-5 41577 0 3.1837E-5
15-86123586-C-T p.His763Tyr missense AKAP13 7 83176 8.41589E-5 41588 0 6.36862E-5
15-86123591-A-G p.Pro764Pro synonymous AKAP13 1 83176 1.20227E-5 41588 0 5.17129E-5
15-86123592-G-A p.Val765Ile missense AKAP13 1 83176 1.20227E-5 41588 0 NA
15-86123593-T-C p.Val765Ala missense AKAP13 1 83178 1.20224E-5 41589 0 NA
15-86123603-A-C p.Lys768Asn missense AKAP13 1 83174 1.2023E-5 41587 0 3.1835E-5
15-86123612-A-G p.Lys771Lys synonymous AKAP13 24 83174 2.88552E-4 41587 0 2.5468E-4
15-86123618-G-A p.Leu773Leu synonymous AKAP13 4 83188 4.80839E-5 41594 0 2.4715E-5
15-86123627-C-T p.Asp776Asp synonymous AKAP13 5 83178 6.0112E-5 41589 0 1.64761E-5
15-86123628-C-A p.Gln777Lys missense AKAP13 1 83178 1.20224E-5 41589 0 NA
15-86123634-G-A p.Val779Ile missense AKAP13 1 83176 1.20227E-5 41588 0 NA
15-86123638-T-G p.Ile780Arg missense AKAP13 1 83174 1.2023E-5 41587 0 NA
15-86123640-T-G p.Ser781Ala missense AKAP13 4 83174 4.8092E-5 41587 0 2.47141E-5
15-86123640-T-C p.Ser781Pro missense AKAP13 1 83174 1.2023E-5 41587 0 NA
15-86123641-C-T p.Ser781Leu missense AKAP13 2 83176 2.40454E-5 41588 0 5.03525E-4
15-86123641-C-G p.Ser781* stop_gained AKAP13 1 83176 1.20227E-5 41588 0 NA
15-86123643-G-T p.Asp782Tyr missense AKAP13 1 83176 1.20227E-5 41588 0 NA
15-86123654-C-G p.Phe785Leu missense AKAP13 7 83166 8.4169E-5 41583 0 3.18276E-4
15-86123664-A-G p.Asn789Asp missense AKAP13 2 83176 2.40454E-5 41588 0 1.64756E-5
15-86123666-C-T p.Asn789Asn synonymous AKAP13 2 83182 2.40437E-5 41591 0 8.23764E-6
15-86123670-C-T p.Pro791Ser missense AKAP13 1 83174 1.2023E-5 41587 0 NA
15-86123672-A-G p.Pro791Pro synonymous AKAP13 2 83182 2.40437E-5 41591 0 NA
15-86123681-A-G p.Glu794Glu synonymous AKAP13 1 83194 1.20201E-5 41597 0 8.23791E-6
15-86123684-A-G p.Ser795Ser synonymous AKAP13 2 83200 2.40385E-5 41600 0 1.989E-5
15-86123688-A-T p.Thr797Ser missense AKAP13 1 83202 1.20189E-5 41601 0 NA
15-86123699-C-T p.Asp800Asp synonymous AKAP13 4 83200 4.80769E-5 41600 0 5.03525E-4
15-86123700-G-A p.Ala801Thr missense AKAP13 4 83194 4.80804E-5 41597 0 1.98897E-5
15-86123701-C-T p.Ala801Val missense AKAP13 1 83194 1.20201E-5 41597 0 8.23805E-6
15-86123714-C-T p.Val805Val synonymous AKAP13 1 83206 1.20184E-5 41603 0 NA
15-86123714-C-G p.Val805Val synonymous AKAP13 1 83206 1.20184E-5 41603 0 6.37227E-5
15-86123717-C-G p.Pro806Pro synonymous AKAP13 1 83210 1.20178E-5 41605 0 NA
15-86123718-T-G p.Ser807Ala missense AKAP13 1 83206 1.20184E-5 41603 0 NA
15-86123721-C-G p.Gln808Glu missense AKAP13 3 83214 3.60516E-5 41607 0 3.18552E-5
15-86123728-A-G p.Glu810Gly missense AKAP13 2 83208 2.40361E-5 41604 0 6.37105E-5
15-86123730-A-G p.Lys811Glu missense AKAP13 1 83204 1.20187E-5 41602 0 NA
15-86123742-A-G p.Thr815Ala missense AKAP13 1 83142 1.20276E-5 41571 0 5.03525E-4
15-86123745-C-A p.Pro816Thr missense AKAP13 1 83118 1.20311E-5 41559 0 NA
15-86123751-C-T p.Leu818Leu synonymous AKAP13 10 83086 1.20357E-4 41543 0 8.7526E-5
15-86123758-C-T p.Thr820Ile missense AKAP13 10 83020 1.20453E-4 41510 0 6.25E-4
15-86123759-A-G p.Thr820Thr synonymous AKAP13 1 83016 1.20459E-5 41508 0 3.9781E-6
15-86123762-T-A p.Ala821Ala synonymous AKAP13 1 82978 1.20514E-5 41489 0 NA
15-86123763-A-G p.Thr822Ala missense AKAP13 1 82966 1.20531E-5 41483 0 8.24416E-6
15-86123770-A-T p.Tyr824Phe missense AKAP13 399 82894 0.00481338 41447 4 0.00500096
15-86123795-G-A p.Ser832Ser synonymous AKAP13 2 82540 2.42307E-5 41270 0 1.59258E-5
15-86123800-A-G p.Glu834Gly missense AKAP13 7 82510 8.48382E-5 41255 0 3.18431E-5
15-86123803-C-G p.Pro835Arg missense AKAP13 1 82484 1.21236E-5 41242 0 NA
15-86123809-C-T p.Thr837Met missense AKAP13 475 82418 0.0057633 41209 1 0.00625
15-86123810-G-A p.Thr837Thr synonymous AKAP13 2 82404 2.42707E-5 41202 0 3.18451E-5
15-86123812-G-A p.Arg838Gln missense AKAP13 1 82422 1.21327E-5 41211 0 5.97438E-5
15-86123825-C-T p.Asp842Asp synonymous AKAP13 1 82518 1.21186E-5 41259 0 1.99125E-5
15-86123833-T-C p.Val845Ala missense AKAP13 52492 82286 0.637921 41143 16886 0.673431
15-86123833-T-G p.Val845Gly missense AKAP13 438 82556 0.00530549 41278 6 0.0427509
15-86123846-A-G p.Thr849Thr synonymous AKAP13 2 82706 2.4182E-5 41353 0 1.6509E-5
15-86123851-C-T p.Ser851Phe missense AKAP13 1337 82752 0.0161567 41376 14 0.016031
15-86123859-G-A p.Ala854Thr missense AKAP13 4 82818 4.82987E-5 41409 0 1.27397E-4
15-86123866-T-C p.Leu856Pro missense AKAP13 2 82874 2.4133E-5 41437 0 NA
15-86123873-C-T p.His858His synonymous AKAP13 6 82838 7.24305E-5 41419 0 5.03525E-4
15-86123874-G-A p.Gly859Arg missense AKAP13 8 82848 9.65624E-5 41424 0 5.03525E-4
15-86123877-A-T p.Met860Leu missense AKAP13 1 82850 1.207E-5 41425 0 NA
15-86123882-G-T p.Gly861Gly synonymous AKAP13 83 82900 0.00100121 41450 0 0.00229358
15-86123889-A-G p.Ser864Gly missense AKAP13 1 82914 1.20607E-5 41457 0 6.37308E-5
15-86123890-G-A p.Ser864Asn missense AKAP13 6 82910 7.23676E-5 41455 0 1.27437E-4
15-86123892-C-T p.Leu865Phe missense AKAP13 2 82910 2.41225E-5 41455 0 NA
15-86123903-T-G p.Leu868Leu synonymous AKAP13 1 82904 1.20621E-5 41452 0 NA
15-86123915-T-C p.His872His synonymous AKAP13 1 82886 1.20648E-5 41443 0 6.25E-4
15-86123924-C-T p.Pro875Pro synonymous AKAP13 53141 82570 0.643587 41285 17288 0.678125
15-86123932-C-T p.Pro878Leu missense AKAP13 3 82862 3.62048E-5 41431 0 1.40521E-4
15-86123934-G-A p.Ala879Thr missense AKAP13 3 82838 3.62153E-5 41419 0 1.27405E-4
15-86123939-C-T p.Ile880Ile synonymous AKAP13 1 82812 1.20755E-5 41406 0 3.18593E-5
15-86123951-G-A p.Leu884Leu synonymous AKAP13 3 82782 3.62398E-5 41391 0 NA
15-86123955-A-G p.Ile886Val missense AKAP13 18 82770 2.1747E-4 41385 0 5.73358E-4
15-86123958-A-G p.Lys887Glu missense AKAP13 2 82744 2.41709E-5 41372 0 8.26911E-6
15-86123965-A-G p.Asn889Ser missense AKAP13 2 82700 2.41838E-5 41350 0 3.98651E-6
15-86123967-A-G p.Thr890Ala missense AKAP13 1 82686 1.20939E-5 41343 0 3.30792E-5
15-86123978-C-G p.Ser893Ser synonymous AKAP13 1 82564 1.21118E-5 41282 0 NA
15-86123988-G-A p.Val897Met missense AKAP13 52817 82082 0.643466 41041 17188 0.678125
15-86123988-GT-AA p.Val897Lys missense AKAP13 1 82504 1.21206E-5 41252 0 NA
15-86123994-A-G p.Lys899Glu missense AKAP13 1 82458 1.21274E-5 41229 0 NA
15-86124000-A-T p.Thr901Ser missense AKAP13 2 82410 2.42689E-5 41205 0 5.03525E-4
15-86124040-T-C p.Leu914Pro missense AKAP13 1 82330 1.21462E-5 41165 0 8.3138E-6
15-86124042-C-T p.Leu915Leu synonymous AKAP13 1 82320 1.21477E-5 41160 0 NA
15-86124044-G-C p.Leu915Leu synonymous AKAP13 69 82326 8.38131E-4 41163 1 0.00325428
15-86124055-A-T p.Glu919Val missense AKAP13 1 82352 1.2143E-5 41176 0 NA
15-86124057-A-G p.Ser920Gly missense AKAP13 1 82356 1.21424E-5 41178 0 NA
15-86124058-G-A p.Ser920Asn missense AKAP13 1 82358 1.21421E-5 41179 0 8.31781E-6
15-86124061-C-G p.Ser921Cys missense AKAP13 238 82392 0.00288863 41196 1 0.00515858
15-86124082-A-T p.Lys928Met missense AKAP13 1 82606 1.21057E-5 41303 0 NA
15-86124083-G-T p.Lys928Asn missense AKAP13 2 82608 2.42107E-5 41304 0 0.00100705
15-86124085-A-G p.Asp929Gly missense AKAP13 6 82626 7.26164E-5 41313 0 1.19717E-5
15-86124091-C-T p.Ala931Val missense AKAP13 4 82648 4.8398E-5 41324 0 2.43371E-4
15-86124092-G-A p.Ala931Ala synonymous AKAP13 1 82676 1.20954E-5 41338 0 8.32348E-6
15-86124099-T-G p.Cys934Gly missense AKAP13 2 82754 2.4168E-5 41377 0 3.98807E-6
15-86124101-T-G p.Cys934Trp missense AKAP13 1 82768 1.2082E-5 41384 0 1.66511E-5
15-86124103-C-T p.Ser935Phe missense AKAP13 2 82752 2.41686E-5 41376 0 3.18552E-4
15-86124108-A-G p.Ile937Val missense AKAP13 1 82738 1.20863E-5 41369 0 3.98772E-6
15-86124117-A-G p.Asn940Asp missense AKAP13 1 82758 1.20834E-5 41379 0 NA
15-86124128-T-C p.Ser943Ser synonymous AKAP13 1 82752 1.20843E-5 41376 0 NA
15-86124129-T-C p.Ser944Pro missense AKAP13 49 82720 5.9236E-4 41360 0 0.00114701
15-86124130-C-T p.Ser944Leu missense AKAP13 9 82716 1.08806E-4 41358 0 1.91083E-4
15-86124139-T-C p.Leu947Ser missense AKAP13 1 82626 1.21027E-5 41313 0 3.18471E-5
15-86124141-C-T p.Gln948* stop_gained AKAP13 2 82602 2.42125E-5 41301 0 NA
15-86124150-C-G p.Gln951Glu missense AKAP13 36 82528 4.36216E-4 41264 0 0.00195007
15-86124153-A-C p.Arg952Arg synonymous AKAP13 1 82474 1.2125E-5 41237 0 NA
15-86124154-G-A p.Arg952Lys missense AKAP13 1 82504 1.21206E-5 41252 0 NA
15-86124161-A-C p.Pro954Pro synonymous AKAP13 1 82396 1.21365E-5 41198 0 NA
15-86124169-G-T p.Gly957Val missense AKAP13 2 82328 2.42931E-5 41164 0 NA
15-86124172-A-G p.Gln958Arg missense AKAP13 2 82348 2.42872E-5 41174 0 8.33611E-6
15-86124173-A-G p.Gln958Gln synonymous AKAP13 2 82336 2.42907E-5 41168 0 6.66867E-5
15-86124182-A-G p.Gln961Gln synonymous AKAP13 12 82198 1.45989E-4 41099 0 6.25E-4
15-86124213-T-C p.Cys972Arg missense AKAP13 2 81946 2.44063E-5 40973 0 6.36983E-5
15-86124221-G-A p.Lys974Lys synonymous AKAP13 11 82014 1.34123E-4 41007 0 0.003125
15-86124222-G-T p.Asp975Tyr missense AKAP13 1 81990 1.21966E-5 40995 0 NA
15-86124229-C-A p.Ala977Glu missense AKAP13 1 82002 1.21948E-5 41001 0 1.66747E-5
15-86124237-C-T p.Leu980Leu synonymous AKAP13 1 82040 1.21892E-5 41020 0 1.99692E-5
15-86124250-C-T p.Pro984Leu missense AKAP13 2 82096 2.43617E-5 41048 0 1.2738E-4
15-86124251-G-A p.Pro984Pro synonymous AKAP13 1 82096 1.21809E-5 41048 0 1.66631E-5
15-86124252-G-T p.Gly985Cys missense AKAP13 1 82106 1.21794E-5 41053 0 1.66603E-5
15-86124255-G-A p.Ala986Thr missense AKAP13 1 82134 1.21752E-5 41067 0 NA
15-86124260-C-A p.Ser987Ser synonymous AKAP13 1 82248 1.21584E-5 41124 0 8.32626E-6
15-86124275-G-A p.Lys992Lys synonymous AKAP13 1 82392 1.21371E-5 41196 0 8.31753E-6
15-86124279-G-A p.Glu994Lys missense AKAP13 4 82404 4.85413E-5 41202 0 9.55353E-5
15-86124284-T-C p.Thr995Thr synonymous AKAP13 1 82446 1.21292E-5 41223 0 8.31324E-6
15-86124288-C-T p.His997Tyr missense AKAP13 1 82444 1.21294E-5 41222 0 NA
15-86124300-G-T p.Val1001Leu missense AKAP13 1 82404 1.21353E-5 41202 0 NA
15-86124303-G-A p.Ala1002Thr missense AKAP13 45 82380 5.46249E-4 41190 0 0.00151057
15-86124312-G-A p.Val1005Ile missense AKAP13 2 82402 2.42713E-5 41201 0 8.30385E-6
15-86124318-C-T p.Leu1007Leu synonymous AKAP13 2 82388 2.42754E-5 41194 0 3.18512E-5
15-86124329-A-T p.Gln1010His missense AKAP13 1 82378 1.21392E-5 41189 0 7.9841E-6
15-86124331-G-A p.Gly1011Asp missense AKAP13 4 82342 4.85779E-5 41171 0 8.29944E-6
15-86124339-G-T p.Ala1014Ser missense AKAP13 8 82278 9.72313E-5 41139 0 1.91205E-4
15-86124339-G-A p.Ala1014Thr missense AKAP13 1 82278 1.21539E-5 41139 0 8.29724E-6
15-86124341-C-T p.Ala1014Ala synonymous AKAP13 2 82296 2.43025E-5 41148 0 7.98167E-6
15-86124348-C-G p.Leu1017Val missense AKAP13 4 82288 4.86098E-5 41144 0 1.41016E-4
15-86124352-T-A p.Val1018Glu missense AKAP13 2 82254 2.43149E-5 41127 0 6.37552E-5
15-86124373-C-T p.Ala1025Val missense AKAP13 1 82214 1.21634E-5 41107 0 8.28651E-6
15-86124378-G-C p.Glu1027Gln missense AKAP13 1 82294 1.21516E-5 41147 0 NA
15-86124395-C-T p.Ala1032Ala synonymous AKAP13 6 82348 7.28615E-5 41174 0 2.78929E-5
15-86124397-T-C p.Leu1033Ser missense AKAP13 1 82330 1.21462E-5 41165 0 3.9846E-6
15-86124399-G-C p.Gly1034Arg missense AKAP13 1 82316 1.21483E-5 41158 0 NA
15-86124399-G-A p.Gly1034Arg missense AKAP13 1 82316 1.21483E-5 41158 0 NA
15-86124402-G-A p.Ala1035Thr missense AKAP13 1 82264 1.2156E-5 41132 0 3.18776E-5
15-86124407-G-A p.Glu1036Glu synonymous AKAP13 1 82350 1.21433E-5 41175 0 NA
15-86124409-A-G p.His1037Arg missense AKAP13 2 82390 2.42748E-5 41195 0 6.37471E-5
15-86124418-CCGCTCTGT-C p.Leu1042fs frameshift AKAP13 2 82446 2.42583E-5 41223 0 NA
15-86124419-C-T p.Ser1040Ser synonymous AKAP13 52556 81846 0.642133 40923 17044 0.678125
15-86124421-CTCTGTTGCCATG-C p.Cys1045_Pro1048del conservative_inframe_deletion AKAP13 13 82476 1.57622E-4 41238 0 1.51308E-4
15-86124421-C-CTCTGTTGCCATG p.Cys1045_Pro1048dup conservative_inframe_insertion AKAP13 2 82476 2.42495E-5 41238 0 8.25014E-6
15-86124428-G-A p.Leu1043Leu synonymous AKAP13 2 82538 2.42313E-5 41269 0 1.35359E-4
15-86124429-CCATG-C p.Pro1044fs frameshift AKAP13 1 82550 1.21139E-5 41275 0 NA
15-86124431-A-G p.Pro1044Pro synonymous AKAP13 4 82612 4.84191E-5 41306 0 3.18837E-5
15-86124433-G-C p.Cys1045Ser missense AKAP13 1 82620 1.21036E-5 41310 0 NA
15-86124443-A-G p.Pro1048Pro synonymous AKAP13 1 82712 1.20901E-5 41356 0 6.37349E-5
15-86124450-T-C p.Ser1051Pro missense AKAP13 1 82788 1.2079E-5 41394 0 NA
15-86124458-G-T p.Gly1053Gly synonymous AKAP13 2 82862 2.41365E-5 41431 0 NA
15-86124461-C-T p.Ser1054Ser synonymous AKAP13 82 82896 9.89191E-4 41448 0 0.00251762
15-86124468-C-T p.Leu1057Phe missense AKAP13 2 82956 2.41092E-5 41478 0 NA
15-86124483-C-G p.Pro1062Ala missense AKAP13 53217 82694 0.643541 41347 17300 0.678125
15-86124483-CCT-GCG p.Pro1062Ala missense AKAP13 1 83010 1.20467E-5 41505 0 NA
15-86124484-C-T p.Pro1062Leu missense AKAP13 1 83022 1.2045E-5 41511 0 3.18552E-5
15-86124499-T-G p.Val1067Gly missense AKAP13 12 83094 1.44415E-4 41547 0 5.41815E-4
15-86124501-G-A p.Gly1068Arg missense AKAP13 1 83118 1.20311E-5 41559 0 NA
15-86124514-C-T p.Thr1072Ile missense AKAP13 2 83136 2.4057E-5 41568 0 NA
15-86124515-T-C p.Thr1072Thr synonymous AKAP13 119 83136 0.00143139 41568 0 0.00286752
15-86124533-T-G p.Thr1078Thr synonymous AKAP13 1 83196 1.20198E-5 41598 0 NA
15-86124534-A-C p.Ser1079Arg missense AKAP13 1 83194 1.20201E-5 41597 0 3.97833E-6
15-86124536-T-C p.Ser1079Ser synonymous AKAP13 1 83200 1.20192E-5 41600 0 6.37024E-5
15-86124540-T-C p.Cys1081Arg missense AKAP13 2 83200 2.40385E-5 41600 0 1.64856E-5
15-86124545-G-C p.Glu1082Asp missense AKAP13 1 83228 1.20152E-5 41614 0 NA
15-86124552-G-A p.Gly1085Arg missense AKAP13 1 83236 1.2014E-5 41618 0 3.97798E-6
15-86124555-G-A p.Asp1086Asn missense AKAP13 53360 82920 0.643512 41460 17345 0.6775
15-86124562-C-T p.Thr1088Met missense AKAP13 9 83246 1.08113E-4 41623 0 9.55657E-5
15-86124563-G-A p.Thr1088Thr synonymous AKAP13 38 83250 4.56456E-4 41625 0 0.00625
15-86124566-G-T p.Val1089Val synonymous AKAP13 1 83250 1.2012E-5 41625 0 NA
15-86124583-A-G p.Asn1095Ser missense AKAP13 4 83264 4.804E-5 41632 0 NA
15-86124590-A-G p.Leu1097Leu synonymous AKAP13 5 83256 6.00557E-5 41628 0 9.55901E-5
15-86124592-A-G p.Gln1098Arg missense AKAP13 1 83262 1.20103E-5 41631 0 NA
15-86124595-G-A p.Gly1099Asp missense AKAP13 1 83268 1.20094E-5 41634 0 NA
15-86124597-A-G p.Met1100Val missense AKAP13 1 83276 1.20083E-5 41638 0 1.59112E-5
15-86124599-G-A p.Met1100Ile missense AKAP13 8 83276 9.60661E-5 41638 0 6.37146E-5
15-86124616-A-G p.Glu1106Gly missense AKAP13 3284 83274 0.0394361 41637 82 0.0426787
15-86124627-C-T p.His1110Tyr missense AKAP13 8 83284 9.60569E-5 41642 0 3.295E-5
15-86124627-C-CTTTGGCTTTAGATTCAGTTTTG p.His1110fs frameshift AKAP13 1 83284 1.20071E-5 41642 0 NA
15-86124629-C-CTGAAG p.Asn1111fs frameshift AKAP13 1 83286 1.20068E-5 41643 0 NA
15-86124637-A-G p.Gln1113Arg missense AKAP13 1 83312 1.20031E-5 41656 0 6.25E-4
15-86124653-A-G p.Pro1118Pro synonymous AKAP13 2 83304 2.40085E-5 41652 0 7.95342E-6
15-86124653-A-C p.Pro1118Pro synonymous AKAP13 2 83304 2.40085E-5 41652 0 1.19301E-5
15-86124656-C-T p.Asn1119Asn synonymous AKAP13 9 83308 1.08033E-4 41654 0 0.005625
15-86124659-C-T p.Val1120Val synonymous AKAP13 1 83312 1.20031E-5 41656 0 1.6475E-5
15-86124667-G-T p.Ser1123Ile missense AKAP13 2 83318 2.40044E-5 41659 0 4.11889E-5
15-86124677-G-T p.Lys1126Asn missense AKAP13 1 83310 1.20034E-5 41655 0 NA
15-86124679-A-G p.Asn1127Ser missense AKAP13 1 83314 1.20028E-5 41657 0 NA
15-86124682-C-G p.Ala1128Gly missense AKAP13 1 83316 1.20025E-5 41658 0 NA
15-86124683-C-T p.Ala1128Ala synonymous AKAP13 13 83320 1.56025E-4 41660 0 9.55414E-5
15-86124684-G-A p.Val1129Ile missense AKAP13 7 83318 8.40155E-5 41659 0 6.25E-4
15-86124688-T-C p.Leu1130Pro missense AKAP13 1 83320 1.20019E-5 41660 0 3.97697E-6
15-86124690-G-C p.Gly1131Arg missense AKAP13 1 83320 1.20019E-5 41660 0 1.19306E-5
15-86124691-G-A p.Gly1131Asp missense AKAP13 4 83318 4.80088E-5 41659 0 7.95399E-6
15-86124711-G-T p.Asp1138Tyr missense AKAP13 48 83306 5.76189E-4 41653 0 7.64477E-4
15-86124712-A-G p.Asp1138Gly missense AKAP13 1975 83276 0.0237163 41638 41 0.040625
15-86124714-A-G p.Lys1139Glu missense AKAP13 7 83304 8.40296E-5 41652 0 9.55597E-5
15-86124715-A-G p.Lys1139Arg missense AKAP13 1 83304 1.20042E-5 41652 0 NA
15-86124718-C-T p.Ala1140Val missense AKAP13 1 83288 1.20065E-5 41644 0 3.18532E-5
15-86124723-A-G p.Thr1142Ala missense AKAP13 2 83288 2.40131E-5 41644 0 NA
15-86124735-G-A p.Gly1146Arg missense AKAP13 1 83258 1.20109E-5 41629 0 1.98889E-5
15-86124751-A-G p.Glu1151Gly missense AKAP13 4 83228 4.80607E-5 41614 0 4.94283E-5
15-86124753-A-C p.Met1152Leu missense AKAP13 1 83220 1.20163E-5 41610 0 3.97817E-6
15-86124767-T-C p.Asp1156Asp synonymous AKAP13 3 83162 3.60742E-5 41581 0 3.58101E-5
15-86124777-G-A p.Gly1160Arg missense AKAP13 1 83122 1.20305E-5 41561 0 NA
15-86124789-G-A p.Gly1164Arg missense AKAP13 1 83028 1.20441E-5 41514 0 8.23886E-6
15-86124794-A-G p.Ala1165Ala synonymous AKAP13 1 83008 1.2047E-5 41504 0 NA
15-86124800-C-T p.His1167His synonymous AKAP13 1 82970 1.20525E-5 41485 0 9.55962E-5
15-86124805-G-A p.Cys1169Tyr missense AKAP13 1 82926 1.20589E-5 41463 0 NA
15-86124818-C-T p.Asp1173Asp synonymous AKAP13 2 82832 2.41453E-5 41416 0 1.07162E-4
15-86124819-G-A p.Ala1174Thr missense AKAP13 3 82796 3.62336E-5 41398 0 9.56511E-5
15-86124820-C-G p.Ala1174Gly missense AKAP13 6 82790 7.24725E-5 41395 0 0.00251762
15-86124824-G-A p.Glu1175Glu synonymous AKAP13 548 82746 0.00662268 41373 4 0.00560724
15-86124832-A-G p.Gln1178Arg missense AKAP13 1 82676 1.20954E-5 41338 0 NA
15-86124839-C-T p.Asp1180Asp synonymous AKAP13 5 82578 6.05488E-5 41289 0 3.58654E-5
15-86124841-A-G p.Asp1181Gly missense AKAP13 9 82524 1.09059E-4 41262 0 1.56797E-4
15-86124842-T-C p.Asp1181Asp synonymous AKAP13 1 82514 1.21192E-5 41257 0 8.25246E-6
15-86124848-A-C p.Ala1183Ala synonymous AKAP13 2 82450 2.42571E-5 41225 0 5.03525E-4
15-86124855-G-C p.Val1186Leu missense AKAP13 1 82294 1.21516E-5 41147 0 NA
15-86124861-C-A p.Leu1188Met missense AKAP13 1 82130 1.21758E-5 41065 0 8.26187E-6
15-86124863-G-A p.Leu1188Leu synonymous AKAP13 44 82038 5.36337E-4 41019 0 0.00161648
15-86124866-G-T p.Gln1189His missense AKAP13 1 81984 1.21975E-5 40992 0 1.65289E-5
15-86124877-A-T p.Lys1193Met missense AKAP13 1 81756 1.22315E-5 40878 0 NA
15-86124911-T-C p.His1204His synonymous AKAP13 2 80828 2.47439E-5 40414 0 2.0008E-5
15-86124915-G-T p.Asp1206Tyr missense AKAP13 1 80776 1.23799E-5 40388 0 4.00218E-6
15-86124917-T-A p.Asp1206Glu missense AKAP13 51 80724 6.31782E-4 40362 0 0.00352467
15-86124925-C-T p.Pro1209Leu missense AKAP13 32 80558 3.97229E-4 40279 0 0.00114672
15-86124928-C-T p.Ala1210Val missense AKAP13 1 80496 1.2423E-5 40248 0 NA
15-86124929-T-A p.Ala1210Ala synonymous AKAP13 2 80520 2.48385E-5 40260 0 6.25E-4
15-86124930-G-C p.Gly1211Arg missense AKAP13 3 80468 3.72819E-5 40234 0 4.00391E-6
15-86124945-A-T p.Met1216Leu missense AKAP13 1 80174 1.24729E-5 40087 0 NA
15-86124946-T-C p.Met1216Thr missense AKAP13 50771 79206 0.640999 39603 16526 0.673125
15-86124946-TG-CT p.Met1216Thr missense AKAP13 1 80188 1.24707E-5 40094 0 NA
15-86124946-TGC-CGT p.MetArg1216* stop_gained AKAP13 1 80188 1.24707E-5 40094 0 NA
15-86124947-G-T p.Met1216Ile missense AKAP13 1 80100 1.24844E-5 40050 0 8.27075E-6
15-86124952-C-G p.Ala1218Gly missense AKAP13 3 80270 3.73739E-5 40135 0 4.00311E-6
15-86124955-C-T p.Pro1219Leu missense AKAP13 1 80408 1.24366E-5 40204 0 2.4811E-5
15-86124956-G-A p.Pro1219Pro synonymous AKAP13 2 80496 2.4846E-5 40248 0 5.03525E-4
15-86124965-C-G p.Gly1222Gly synonymous AKAP13 1 80728 1.23873E-5 40364 0 NA
15-86124965-C-T p.Gly1222Gly synonymous AKAP13 2 80728 2.47746E-5 40364 0 3.1839E-5
15-86124968-G-A p.Arg1223Arg synonymous AKAP13 50927 79902 0.637368 39951 16481 0.673125
15-86124982-C-T p.Pro1228Leu missense AKAP13 2 81148 2.46463E-5 40574 0 6.36862E-5
15-86124983-C-T p.Pro1228Pro synonymous AKAP13 2 81188 2.46342E-5 40594 0 NA
15-86124985-C-G p.Ser1229Cys missense AKAP13 1 81228 1.2311E-5 40614 0 6.36943E-5
15-86124986-T-C p.Ser1229Ser synonymous AKAP13 2 81216 2.46257E-5 40608 0 3.30458E-5
15-86124988-T-C p.Leu1230Pro missense AKAP13 4 81304 4.91981E-5 40652 0 3.18573E-5
15-86124999-G-A p.Val1234Ile missense AKAP13 1 81546 1.2263E-5 40773 0 NA
15-86125005-G-T p.Ala1236Ser missense AKAP13 1 81670 1.22444E-5 40835 0 8.26064E-6
15-86125011-G-A p.Asp1238Asn missense AKAP13 1 81830 1.22205E-5 40915 0 3.3036E-5
15-86125013-C-T p.Asp1238Asp synonymous AKAP13 2 81856 2.44332E-5 40928 0 1.27429E-4
15-86125014-G-A p.Ala1239Thr missense AKAP13 1 81892 1.22112E-5 40946 0 3.18532E-5
15-86125018-C-T p.Pro1240Leu missense AKAP13 1 82046 1.21883E-5 41023 0 8.25818E-6
15-86125031-G-A p.Gly1244Gly synonymous AKAP13 51269 80394 0.637722 40197 16500 0.674375
15-86125059-C-T p.Arg1254Cys missense AKAP13 1 82684 1.20942E-5 41342 0 1.99148E-5
15-86125060-G-A p.Arg1254His missense AKAP13 1 82712 1.20901E-5 41356 0 6.36902E-5
15-86125060-G-T p.Arg1254Leu missense AKAP13 1 82712 1.20901E-5 41356 0 NA
15-86125079-C-T p.Ile1260Ile synonymous AKAP13 258 82902 0.00311211 41451 6 0.0111755
15-86125080-G-A p.Glu1261Lys missense AKAP13 8 82936 9.64599E-5 41468 0 6.25E-4
15-86125094-C-T p.Ala1265Ala synonymous AKAP13 8 82970 9.64204E-5 41485 0 6.36943E-5
15-86125095-G-T p.Ala1266Ser missense AKAP13 1 82972 1.20523E-5 41486 0 2.47476E-5
15-86125098-G-C p.Gly1267Arg missense AKAP13 7 83018 8.43191E-5 41509 0 7.4239E-5
15-86125111-C-T p.Thr1271Ile missense AKAP13 1 83042 1.20421E-5 41521 0 6.37024E-5
15-86125124-C-T p.Ala1275Ala synonymous AKAP13 1 83056 1.20401E-5 41528 0 3.18634E-5
15-86125126-G-A p.Cys1276Tyr missense AKAP13 14 83062 1.68549E-4 41531 0 3.87629E-4
15-86125128-C-T p.His1277Tyr missense AKAP13 1 83074 1.20375E-5 41537 0 6.37227E-5
15-86125139-G-A p.Leu1280Leu synonymous AKAP13 9 83068 1.08345E-4 41534 0 1.27421E-4
15-86125150-A-G p.Glu1284Gly missense AKAP13 1 83040 1.20424E-5 41520 0 8.24892E-6
15-86125151-G-T p.Glu1284Asp missense AKAP13 1 83044 1.20418E-5 41522 0 NA
15-86125167-A-G p.Lys1290Glu missense AKAP13 1 83040 1.20424E-5 41520 0 NA
15-86125180-G-A p.Ser1294Asn missense AKAP13 8 83032 9.63484E-5 41516 0 9.55536E-5
15-86125200-A-T p.Ser1301Cys missense AKAP13 1 83012 1.20465E-5 41506 0 NA
15-86125202-T-A p.Ser1301Arg missense AKAP13 1 82996 1.20488E-5 41498 0 NA
15-86125204-C-T p.Thr1302Ile missense AKAP13 6 82998 7.22909E-5 41499 0 1.07725E-4
15-86125219-A-G p.Glu1307Gly missense AKAP13 1 82988 1.20499E-5 41494 0 NA
15-86125226-A-G p.Leu1309Leu synonymous AKAP13 3 82976 3.6155E-5 41488 0 7.96546E-6
15-86125227-C-T p.Pro1310Ser missense AKAP13 1 82984 1.20505E-5 41492 0 NA
15-86125229-A-G p.Pro1310Pro synonymous AKAP13 3 82980 3.61533E-5 41490 0 1.58054E-4
15-86125230-A-G p.Met1311Val missense AKAP13 1 82982 1.20508E-5 41491 0 NA
15-86125231-T-A p.Met1311Lys missense AKAP13 2 82976 2.41034E-5 41488 0 3.18573E-5
15-86125235-C-T p.Gly1312Gly synonymous AKAP13 1 82944 1.20563E-5 41472 0 NA
15-86125236-A-G p.Ser1313Gly missense AKAP13 9 82944 1.08507E-4 41472 0 9.55353E-5
15-86125242-C-G p.Pro1315Ala missense AKAP13 1 82920 1.20598E-5 41460 0 NA
15-86125245-G-C p.Glu1316Gln missense AKAP13 1 82932 1.20581E-5 41466 0 3.9874E-6
15-86125247-G-A p.Glu1316Glu synonymous AKAP13 6 82920 7.23589E-5 41460 0 6.25E-4
15-86125255-C-T p.Thr1319Met missense AKAP13 4 82888 4.82579E-5 41444 0 6.37186E-5
15-86125256-G-A p.Thr1319Thr synonymous AKAP13 26 82874 3.13729E-4 41437 0 3.50452E-4
15-86125256-G-C p.Thr1319Thr synonymous AKAP13 5 82874 6.03326E-5 41437 0 4.28449E-4
15-86125261-G-A p.Ser1321Asn missense AKAP13 1 82818 1.20747E-5 41409 0 6.36862E-5
15-86125262-C-A p.Ser1321Arg missense AKAP13 1 82802 1.2077E-5 41401 0 3.99728E-6
15-86125267-C-T p.Ala1323Val missense AKAP13 1 82770 1.20817E-5 41385 0 NA
15-86125304-C-T p.Ile1335Ile synonymous AKAP13 11595 81142 0.142898 40571 945 0.2036
15-86125312-C-T p.Pro1338Leu missense AKAP13 1 81544 1.22633E-5 40772 0 8.83377E-6
15-86125319-G-C p.Gln1340His missense AKAP13 4 81266 4.92211E-5 40633 0 1.24952E-5
15-86125321-G-A p.Gly1341Glu missense AKAP13 1 81168 1.23201E-5 40584 0 1.27768E-5
15-86125323-C-T p.Pro1342Ser missense AKAP13 1 81086 1.23326E-5 40543 0 8.99248E-6
15-86125338-G-GAAATGCCAGAC c.4039_4039+1insAAATGCCAGAC splice_donor AKAP13 2 80482 2.48503E-5 40241 1 NA
15-86125338-G-GAAATGCCAGACGTGAAAGCTGAAGATGAAGTGGATTTTA c.4039_4039+1insAAATGCCAGACGTGAAAGCTGAAGATGAAGTGGATTTTA splice_donor AKAP13 1 80484 1.24248E-5 40242 0 NA
15-86125341-A-G c.4039+3A>G splice_region AKAP13 2 80200 2.49377E-5 40100 0 9.08571E-6
15-86128929-T-C c.4040-4T>C splice_region AKAP13 2 83240 2.40269E-5 41620 0 1.64799E-5
15-86128946-G-T p.Val1351Val synonymous AKAP13 1 83244 1.20129E-5 41622 0 0.00125
15-86128952-T-A p.Ala1353Ala synonymous AKAP13 1 83256 1.20111E-5 41628 0 3.97953E-6
15-86128962-G-A p.Val1357Met missense AKAP13 2 83266 2.40194E-5 41633 0 8.23832E-6
15-86128964-G-A p.Val1357Val synonymous AKAP13 1 83272 1.20088E-5 41636 0 NA
15-86128983-A-G p.Ile1364Val missense AKAP13 1 83276 1.20083E-5 41638 0 7.95703E-6
15-86128994-A-G p.Glu1367Glu synonymous AKAP13 1 83278 1.2008E-5 41639 0 3.18471E-5
15-86129004-G-A p.Gly1371Arg missense AKAP13 1 83290 1.20062E-5 41645 0 8.23913E-6
15-86129011-T-C p.Ile1373Thr missense AKAP13 1 83292 1.2006E-5 41646 0 NA
15-86129024-G-T p.Leu1377Leu synonymous AKAP13 1 83316 1.20025E-5 41658 0 3.97858E-6
15-86129033-G-A p.Lys1380Lys synonymous AKAP13 2 83314 2.40056E-5 41657 0 0.00151057
15-86129043-A-G p.Met1384Val missense AKAP13 1 83320 1.20019E-5 41660 0 3.58092E-5
15-86129053-C-T p.Ala1387Val missense+splice_region AKAP13 1 83326 1.20011E-5 41663 0 3.18492E-5
15-86163401-A-T n.475A>T splice_region AKAP13 4 76264 5.24494E-5 38132 0 4.46595E-5
15-86163405-T-C n.477+2T>C splice_donor AKAP13 6 76228 7.87112E-5 38114 0 7.44513E-6
15-86163407-AG-A n.477+5delG splice_region AKAP13 77 76222 0.00101021 38111 0 0.00232499
15-86163407-A-G n.477+4A>G splice_region AKAP13 1 76226 1.31189E-5 38113 0 NA
15-86163409-G-C n.477+6G>C splice_region AKAP13 2 76214 2.62419E-5 38107 0 NA
15-86182605-A-G p.Ile1388Val missense+splice_region AKAP13 2 80352 2.48905E-5 40176 0 8.3696E-6
15-86182606-T-C p.Ile1388Thr missense+splice_region AKAP13 3 80438 3.72958E-5 40219 0 3.1841E-5
15-86182612-G-A p.Arg1390Gln missense AKAP13 1 80916 1.23585E-5 40458 0 2.0074E-5
15-86182620-T-A p.Trp1393Arg missense AKAP13 1 81452 1.22772E-5 40726 0 1.60082E-5
15-86182627-C-G p.Thr1395Arg missense AKAP13 1 81702 1.22396E-5 40851 0 8.29421E-6
15-86182635-C-T p.Pro1398Ser missense AKAP13 1 81906 1.22091E-5 40953 0 1.27413E-4
15-86182638-T-C p.Cys1399Arg missense AKAP13 1 81978 1.21984E-5 40989 0 1.19698E-5
15-86182641-C-T p.Pro1400Ser missense AKAP13 1 82034 1.21901E-5 41017 0 8.26761E-6
15-86182648-C-G p.Ala1402Gly missense AKAP13 1 82128 1.21761E-5 41064 0 3.98765E-5
15-86182656-C-T p.Leu1405Phe missense AKAP13 1 82146 1.21734E-5 41073 0 3.98673E-6
15-86182662-G-A p.Ala1407Thr missense AKAP13 25 82154 3.04307E-4 41077 0 1.91381E-4
15-86182670-G-A p.Lys1409Lys synonymous AKAP13 4828 81838 0.0589946 40919 190 0.0624277
15-86182677-C-T p.Pro1412Ser missense AKAP13 1 82038 1.21895E-5 41019 0 NA
15-86182678-C-G p.Pro1412Arg missense+splice_region AKAP13 2 82038 2.43789E-5 41019 0 NA
15-86182679-A-G p.Pro1412Pro splice_region+synonymous AKAP13 1 81976 1.21987E-5 40988 0 1.65169E-5
15-86189044-T-C c.4238-5T>C splice_region AKAP13 9 82826 1.08662E-4 41413 0 1.34256E-5
15-86189058-A-G p.Asn1416Ser missense AKAP13 2 83088 2.40709E-5 41544 0 5.03525E-4
15-86189063-C-T p.Leu1418Leu synonymous