ClinVar Miner

List of variants in gene AKAP9 reported as uncertain significance for Long QT syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1075
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_005751.5(AKAP9):c.674T>C (p.Met225Thr) rs143717354 0.00046
NM_005751.5(AKAP9):c.1936A>G (p.Ile646Val) rs144918888 0.00039
NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys) rs146495719 0.00036
NM_005751.5(AKAP9):c.456C>A (p.Asp152Glu) rs138567837 0.00036
NM_005751.5(AKAP9):c.4917+3A>C rs200730225 0.00034
NM_005751.5(AKAP9):c.8656A>G (p.Ile2886Val) rs143283097 0.00026
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys) rs61757674 0.00026
NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn) rs142632541 0.00025
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551 0.00025
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His) rs142573103 0.00025
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) rs138928104 0.00024
NM_005751.5(AKAP9):c.3864G>A (p.Met1288Ile) rs547958010 0.00023
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) rs146022334 0.00019
NM_005751.5(AKAP9):c.9113G>A (p.Arg3038His) rs756856124 0.00017
NM_005751.5(AKAP9):c.11297G>A (p.Arg3766Gln) rs137892407 0.00016
NM_005751.5(AKAP9):c.2230G>A (p.Glu744Lys) rs202091548 0.00016
NM_005751.5(AKAP9):c.6970A>G (p.Ile2324Val) rs184676617 0.00016
NM_005751.5(AKAP9):c.7886T>C (p.Val2629Ala) rs199909093 0.00015
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly) rs149819328 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.1900G>A (p.Glu634Lys) rs368006874 0.00014
NM_005751.5(AKAP9):c.3164C>A (p.Ser1055Tyr) rs373730126 0.00014
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr) rs148267537 0.00013
NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro) rs139337441 0.00013
NM_005751.5(AKAP9):c.10145A>C (p.Lys3382Thr) rs147033628 0.00012
NM_005751.5(AKAP9):c.10220A>C (p.Glu3407Ala) rs781775348 0.00011
NM_005751.5(AKAP9):c.1226A>C (p.His409Pro) rs138535219 0.00011
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr) rs147302252 0.00011
NM_005751.5(AKAP9):c.4625A>G (p.Lys1542Arg) rs141987389 0.00011
NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile) rs561591139 0.00011
NM_005751.5(AKAP9):c.7628T>C (p.Leu2543Pro) rs373320584 0.00011
NM_005751.5(AKAP9):c.10547G>A (p.Arg3516Lys) rs200288508 0.00010
NM_005751.5(AKAP9):c.4598G>A (p.Ser1533Asn) rs541209445 0.00010
NM_005751.5(AKAP9):c.461C>T (p.Pro154Leu) rs768097461 0.00010
NM_005751.5(AKAP9):c.9970G>A (p.Ala3324Thr) rs182048899 0.00010
NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln) rs199880764 0.00009
NM_005751.5(AKAP9):c.1397G>A (p.Arg466Gln) rs200034525 0.00009
NM_005751.5(AKAP9):c.2239G>A (p.Glu747Lys) rs529180209 0.00009
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser) rs369206894 0.00009
NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr) rs1042630361 0.00009
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) rs147841245 0.00009
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met) rs368444006 0.00009
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) rs146648044 0.00009
NM_005751.5(AKAP9):c.11362G>C (p.Val3788Leu) rs199527737 0.00008
NM_005751.5(AKAP9):c.11519T>C (p.Ile3840Thr) rs145675748 0.00008
NM_005751.5(AKAP9):c.4131G>C (p.Glu1377Asp) rs373313419 0.00008
NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) rs786205709 0.00008
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) rs376528503 0.00008
NM_005751.5(AKAP9):c.11494C>T (p.Arg3832Cys) rs140053176 0.00007
NM_005751.5(AKAP9):c.11707G>A (p.Ala3903Thr) rs201298286 0.00007
NM_005751.5(AKAP9):c.3299A>G (p.Asn1100Ser) rs201184315 0.00007
NM_005751.5(AKAP9):c.7454C>A (p.Ser2485Tyr) rs373613868 0.00007
NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu) rs752156538 0.00006
NM_005751.5(AKAP9):c.11234G>A (p.Gly3745Glu) rs140853603 0.00006
NM_005751.5(AKAP9):c.11351G>A (p.Arg3784Gln) rs148635511 0.00006
NM_005751.5(AKAP9):c.11426A>G (p.Lys3809Arg) rs773726579 0.00006
NM_005751.5(AKAP9):c.1396C>T (p.Arg466Trp) rs373876340 0.00006
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His) rs546600149 0.00006
NM_005751.5(AKAP9):c.3563T>C (p.Ile1188Thr) rs147986403 0.00006
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) rs1424485718 0.00006
NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu) rs749340561 0.00006
NM_005751.5(AKAP9):c.5117A>G (p.Asp1706Gly) rs139468199 0.00006
NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu) rs147772200 0.00006
NM_005751.5(AKAP9):c.5680A>G (p.Lys1894Glu) rs137971303 0.00006
NM_005751.5(AKAP9):c.5705G>A (p.Arg1902His) rs369082700 0.00006
NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln) rs749345540 0.00006
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp) rs138468216 0.00006
NM_005751.5(AKAP9):c.7565T>G (p.Ile2522Arg) rs537613965 0.00006
NM_005751.5(AKAP9):c.8654C>T (p.Ser2885Leu) rs759179468 0.00006
NM_005751.5(AKAP9):c.9244C>T (p.Leu3082Phe) rs377611430 0.00006
NM_005751.5(AKAP9):c.9943A>G (p.Thr3315Ala) rs747162821 0.00006
NM_005751.5(AKAP9):c.10061A>G (p.Glu3354Gly) rs200596189 0.00005
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln) rs377026066 0.00005
NM_005751.5(AKAP9):c.1067A>T (p.Asp356Val) rs533277424 0.00005
NM_005751.5(AKAP9):c.10713+4A>G rs539934550 0.00005
NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys) rs146264747 0.00005
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu) rs786205712 0.00005
NM_005751.5(AKAP9):c.3172A>G (p.Asn1058Asp) rs1029311669 0.00005
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln) rs774110970 0.00005
NM_005751.5(AKAP9):c.4594A>G (p.Asn1532Asp) rs368059326 0.00005
NM_005751.5(AKAP9):c.5471G>A (p.Arg1824Gln) rs970122684 0.00005
NM_005751.5(AKAP9):c.6035C>G (p.Ala2012Gly) rs777752444 0.00005
NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile) rs369212896 0.00005
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_005751.5(AKAP9):c.8283C>T (p.Ser2761=) rs1318456659 0.00005
NM_005751.5(AKAP9):c.970A>G (p.Ile324Val) rs906395966 0.00005
NM_005751.5(AKAP9):c.10027G>A (p.Asp3343Asn) rs757454990 0.00004
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=) rs369522150 0.00004
NM_005751.5(AKAP9):c.10738T>A (p.Ser3580Thr) rs767035977 0.00004
NM_005751.5(AKAP9):c.10880G>A (p.Gly3627Glu) rs753656531 0.00004
NM_005751.5(AKAP9):c.10940T>C (p.Ile3647Thr) rs756215009 0.00004
NM_005751.5(AKAP9):c.11240C>T (p.Pro3747Leu) rs373321787 0.00004
NM_005751.5(AKAP9):c.11270A>G (p.Asn3757Ser) rs571076507 0.00004
NM_005751.5(AKAP9):c.11696C>T (p.Thr3899Ile) rs199577930 0.00004
NM_005751.5(AKAP9):c.1508A>G (p.Gln503Arg) rs374700234 0.00004
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg) rs786205713 0.00004
NM_005751.5(AKAP9):c.2113T>G (p.Leu705Val) rs750905383 0.00004
NM_005751.5(AKAP9):c.2575G>A (p.Val859Ile) rs751606673 0.00004
NM_005751.5(AKAP9):c.2951A>G (p.Lys984Arg) rs765992335 0.00004
NM_005751.5(AKAP9):c.3744A>C (p.Glu1248Asp) rs374309022 0.00004
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) rs767728528 0.00004
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala) rs757261572 0.00004
NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp) rs374280470 0.00004
NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val) rs368183690 0.00004
NM_005751.5(AKAP9):c.4553G>A (p.Ser1518Asn) rs761276121 0.00004
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp) rs772669837 0.00004
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys) rs144269839 0.00004
NM_005751.5(AKAP9):c.5668A>T (p.Thr1890Ser) rs201558875 0.00004
NM_005751.5(AKAP9):c.5684G>A (p.Cys1895Tyr) rs376670169 0.00004
NM_005751.5(AKAP9):c.5737C>G (p.Leu1913Val) rs769085707 0.00004
NM_005751.5(AKAP9):c.5752A>C (p.Ser1918Arg) rs1000673132 0.00004
NM_005751.5(AKAP9):c.6806A>T (p.Asp2269Val) rs765553799 0.00004
NM_005751.5(AKAP9):c.6946-12A>G rs375657019 0.00004
NM_005751.5(AKAP9):c.7675A>C (p.Ile2559Leu) rs757278868 0.00004
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg) rs80191629 0.00004
NM_005751.5(AKAP9):c.8314A>G (p.Ile2772Val) rs759694779 0.00004
NM_005751.5(AKAP9):c.9032A>G (p.Asp3011Gly) rs745743634 0.00004
NM_005751.5(AKAP9):c.9068G>A (p.Arg3023Gln) rs749484399 0.00004
NM_005751.5(AKAP9):c.9094C>G (p.Gln3032Glu) rs779260877 0.00004
NM_005751.5(AKAP9):c.9115A>G (p.Ser3039Gly) rs772348877 0.00004
NM_005751.5(AKAP9):c.9229G>A (p.Ala3077Thr) rs189151663 0.00004
NM_005751.5(AKAP9):c.9446A>G (p.Glu3149Gly) rs150579291 0.00004
NM_005751.5(AKAP9):c.9664T>G (p.Trp3222Gly) rs765533928 0.00004
NM_005751.5(AKAP9):c.1034C>T (p.Thr345Ile) rs372425259 0.00003
NM_005751.5(AKAP9):c.10486G>A (p.Ala3496Thr) rs759219564 0.00003
NM_005751.5(AKAP9):c.11495G>A (p.Arg3832His) rs781296769 0.00003
NM_005751.5(AKAP9):c.11578G>T (p.Gly3860Cys) rs752923990 0.00003
NM_005751.5(AKAP9):c.1259A>G (p.Gln420Arg) rs375876545 0.00003
NM_005751.5(AKAP9):c.1535T>C (p.Leu512Pro) rs376638814 0.00003
NM_005751.5(AKAP9):c.1682C>T (p.Ala561Val) rs149162273 0.00003
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) rs145033147 0.00003
NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu) rs961090757 0.00003
NM_005751.5(AKAP9):c.2324C>T (p.Ala775Val) rs751926047 0.00003
NM_005751.5(AKAP9):c.2812A>G (p.Thr938Ala) rs148584647 0.00003
NM_005751.5(AKAP9):c.3083G>A (p.Ser1028Asn) rs551552300 0.00003
NM_005751.5(AKAP9):c.4328A>T (p.Glu1443Val) rs773257553 0.00003
NM_005751.5(AKAP9):c.4331T>C (p.Val1444Ala) rs762794527 0.00003
NM_005751.5(AKAP9):c.5180C>T (p.Ala1727Val) rs369047678 0.00003
NM_005751.5(AKAP9):c.5368+4C>T rs759286117 0.00003
NM_005751.5(AKAP9):c.5369-3T>C rs375778014 0.00003
NM_005751.5(AKAP9):c.5639G>A (p.Arg1880His) rs770002854 0.00003
NM_005751.5(AKAP9):c.6302A>C (p.Gln2101Pro) rs201545032 0.00003
NM_005751.5(AKAP9):c.6476C>T (p.Ala2159Val) rs772512812 0.00003
NM_005751.5(AKAP9):c.7147A>C (p.Ser2383Arg) rs765144371 0.00003
NM_005751.5(AKAP9):c.7775T>A (p.Leu2592Gln) rs754011064 0.00003
NM_005751.5(AKAP9):c.7980A>C (p.Lys2660Asn) rs371461279 0.00003
NM_005751.5(AKAP9):c.8074G>A (p.Glu2692Lys) rs749538379 0.00003
NM_005751.5(AKAP9):c.821A>G (p.Gln274Arg) rs371664197 0.00003
NM_005751.5(AKAP9):c.8613G>C (p.Leu2871Phe) rs780211536 0.00003
NM_005751.5(AKAP9):c.8833-3C>T rs746505983 0.00003
NM_005751.5(AKAP9):c.9140C>T (p.Thr3047Met) rs756203652 0.00003
NM_005751.5(AKAP9):c.9443C>T (p.Thr3148Met) rs878854812 0.00003
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_005751.5(AKAP9):c.9886T>A (p.Leu3296Ile) rs369263681 0.00003
NM_005751.5(AKAP9):c.10007G>A (p.Arg3336Gln) rs572101398 0.00002
NM_005751.5(AKAP9):c.10313G>A (p.Gly3438Glu) rs758637158 0.00002
NM_005751.5(AKAP9):c.1103A>G (p.Gln368Arg) rs901965564 0.00002
NM_005751.5(AKAP9):c.11183G>C (p.Gly3728Ala) rs1363239151 0.00002
NM_005751.5(AKAP9):c.11189A>C (p.Gln3730Pro) rs372297197 0.00002
NM_005751.5(AKAP9):c.11687-2A>G rs1176473354 0.00002
NM_005751.5(AKAP9):c.1276A>G (p.Thr426Ala) rs199780481 0.00002
NM_005751.5(AKAP9):c.1534C>G (p.Leu512Val) rs767454911 0.00002
NM_005751.5(AKAP9):c.1828G>A (p.Val610Met) rs768686908 0.00002
NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu) rs61757668 0.00002
NM_005751.5(AKAP9):c.2704T>G (p.Leu902Val) rs893173151 0.00002
NM_005751.5(AKAP9):c.2743T>A (p.Ser915Thr) rs371599265 0.00002
NM_005751.5(AKAP9):c.3099A>G (p.Gly1033=) rs948846648 0.00002
NM_005751.5(AKAP9):c.3346C>T (p.Gln1116Ter) rs757225520 0.00002
NM_005751.5(AKAP9):c.3394C>T (p.Arg1132Cys) rs768107825 0.00002
NM_005751.5(AKAP9):c.3640T>C (p.Tyr1214His) rs769011685 0.00002
NM_005751.5(AKAP9):c.3644C>T (p.Thr1215Ile) rs762026625 0.00002
NM_005751.5(AKAP9):c.3715G>T (p.Asp1239Tyr) rs758832151 0.00002
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly) rs779232513 0.00002
NM_005751.5(AKAP9):c.3838-4A>G rs565812419 0.00002
NM_005751.5(AKAP9):c.3953-3T>C rs730880045 0.00002
NM_005751.5(AKAP9):c.4023A>T (p.Gln1341His) rs765475242 0.00002
NM_005751.5(AKAP9):c.431C>G (p.Ser144Cys) rs755140795 0.00002
NM_005751.5(AKAP9):c.4457A>G (p.His1486Arg) rs755931396 0.00002
NM_005751.5(AKAP9):c.547G>A (p.Val183Ile) rs750921440 0.00002
NM_005751.5(AKAP9):c.5554G>A (p.Ala1852Thr) rs1221445886 0.00002
NM_005751.5(AKAP9):c.6029G>A (p.Cys2010Tyr) rs755029879 0.00002
NM_005751.5(AKAP9):c.604C>G (p.Gln202Glu) rs147876926 0.00002
NM_005751.5(AKAP9):c.6296G>A (p.Arg2099Gln) rs1240091785 0.00002
NM_005751.5(AKAP9):c.6727C>T (p.Arg2243Cys) rs140457022 0.00002
NM_005751.5(AKAP9):c.6931A>G (p.Thr2311Ala) rs142509451 0.00002
NM_005751.5(AKAP9):c.7084G>A (p.Glu2362Lys) rs374724127 0.00002
NM_005751.5(AKAP9):c.7096A>G (p.Ile2366Val) rs368823780 0.00002
NM_005751.5(AKAP9):c.7114A>G (p.Met2372Val) rs773105182 0.00002
NM_005751.5(AKAP9):c.7309C>T (p.Arg2437Cys) rs772366481 0.00002
NM_005751.5(AKAP9):c.7363A>G (p.Ile2455Val) rs905116504 0.00002
NM_005751.5(AKAP9):c.8112A>C (p.Glu2704Asp) rs761783446 0.00002
NM_005751.5(AKAP9):c.8524A>G (p.Met2842Val) rs886062477 0.00002
NM_005751.5(AKAP9):c.8659C>A (p.Pro2887Thr) rs146689921 0.00002
NM_005751.5(AKAP9):c.8783G>A (p.Arg2928Gln) rs141103974 0.00002
NM_005751.5(AKAP9):c.9000G>T (p.Lys3000Asn) rs749082483 0.00002
NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys) rs190695638 0.00002
NM_005751.5(AKAP9):c.9112C>T (p.Arg3038Cys) rs753467156 0.00002
NM_005751.5(AKAP9):c.9182T>C (p.Leu3061Pro) rs761435123 0.00002
NM_005751.5(AKAP9):c.9425G>T (p.Ser3142Ile) rs148442799 0.00002
NM_005751.5(AKAP9):c.9683A>G (p.Lys3228Arg) rs368263036 0.00002
NM_005751.5(AKAP9):c.9709C>T (p.Arg3237Trp) rs749167841 0.00002
NM_005751.5(AKAP9):c.10022C>T (p.Ser3341Leu) rs587782932 0.00001
NM_005751.5(AKAP9):c.10163G>C (p.Arg3388Thr) rs765397069 0.00001
NM_005751.5(AKAP9):c.10196C>A (p.Thr3399Asn) rs758623712 0.00001
NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val) rs1040204302 0.00001
NM_005751.5(AKAP9):c.10319T>C (p.Met3440Thr) rs751924200 0.00001
NM_005751.5(AKAP9):c.10332G>T (p.Gln3444His) rs981017281 0.00001
NM_005751.5(AKAP9):c.10360C>T (p.Arg3454Ter) rs1471739869 0.00001
NM_005751.5(AKAP9):c.10481A>G (p.Asn3494Ser) rs1240295587 0.00001
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr) rs750007670 0.00001
NM_005751.5(AKAP9):c.10591C>G (p.Gln3531Glu) rs767137372 0.00001
NM_005751.5(AKAP9):c.10641C>A (p.Phe3547Leu) rs528888059 0.00001
NM_005751.5(AKAP9):c.10643T>C (p.Ile3548Thr) rs146186205 0.00001
NM_005751.5(AKAP9):c.10710A>G (p.Glu3570=) rs767245893 0.00001
NM_005751.5(AKAP9):c.10769G>A (p.Arg3590Lys) rs970740445 0.00001
NM_005751.5(AKAP9):c.10774A>C (p.Asn3592His) rs751653287 0.00001
NM_005751.5(AKAP9):c.10818G>T (p.Lys3606Asn) rs1052036778 0.00001
NM_005751.5(AKAP9):c.10871G>A (p.Arg3624Gln) rs377561989 0.00001
NM_005751.5(AKAP9):c.10904G>A (p.Arg3635Lys) rs1475038289 0.00001
NM_005751.5(AKAP9):c.11111A>G (p.Lys3704Arg) rs777319897 0.00001
NM_005751.5(AKAP9):c.11201A>T (p.Asp3734Val) rs760860769 0.00001
NM_005751.5(AKAP9):c.11249C>T (p.Thr3750Met) rs1431745958 0.00001
NM_005751.5(AKAP9):c.11261T>C (p.Val3754Ala) rs1245271204 0.00001
NM_005751.5(AKAP9):c.11272C>T (p.Arg3758Cys) rs779901993 0.00001
NM_005751.5(AKAP9):c.11317A>G (p.Ile3773Val) rs746874048 0.00001
NM_005751.5(AKAP9):c.11323A>G (p.Ile3775Val) rs910995516 0.00001
NM_005751.5(AKAP9):c.11342T>C (p.Leu3781Ser) rs779122050 0.00001
NM_005751.5(AKAP9):c.11347C>T (p.Arg3783Ter) rs376277241 0.00001
NM_005751.5(AKAP9):c.11348G>A (p.Arg3783Gln) rs143967328 0.00001
NM_005751.5(AKAP9):c.11378C>G (p.Ser3793Cys) rs730880044 0.00001
NM_005751.5(AKAP9):c.11518A>G (p.Ile3840Val) rs1175318913 0.00001
NM_005751.5(AKAP9):c.1159G>A (p.Glu387Lys) rs1274395705 0.00001
NM_005751.5(AKAP9):c.11644C>T (p.Arg3882Trp) rs370539725 0.00001
NM_005751.5(AKAP9):c.11687-3dup rs1189746525 0.00001
NM_005751.5(AKAP9):c.1183A>G (p.Lys395Glu) rs886062467 0.00001
NM_005751.5(AKAP9):c.1268A>T (p.Glu423Val) rs777495335 0.00001
NM_005751.5(AKAP9):c.1457A>T (p.Asp486Val) rs748637545 0.00001
NM_005751.5(AKAP9):c.1471A>C (p.Met491Leu) rs770332643 0.00001
NM_005751.5(AKAP9):c.1583G>A (p.Arg528Lys) rs1252942288 0.00001
NM_005751.5(AKAP9):c.1625A>G (p.Glu542Gly) rs1283390674 0.00001
NM_005751.5(AKAP9):c.1642A>G (p.Arg548Gly) rs147247719 0.00001
NM_005751.5(AKAP9):c.1643G>A (p.Arg548Lys) rs1299207595 0.00001
NM_005751.5(AKAP9):c.1700C>T (p.Thr567Ile) rs754575296 0.00001
NM_005751.5(AKAP9):c.1859C>A (p.Ala620Asp) rs774013935 0.00001
NM_005751.5(AKAP9):c.1984C>T (p.His662Tyr) rs749315335 0.00001
NM_005751.5(AKAP9):c.2024G>A (p.Ser675Asn) rs1316989997 0.00001
NM_005751.5(AKAP9):c.2165A>G (p.Asn722Ser) rs756171219 0.00001
NM_005751.5(AKAP9):c.217G>T (p.Val73Leu) rs887210886 0.00001
NM_005751.5(AKAP9):c.2363A>C (p.Glu788Ala) rs372076987 0.00001
NM_005751.5(AKAP9):c.2368A>G (p.Met790Val) rs776190475 0.00001
NM_005751.5(AKAP9):c.2370G>A (p.Met790Ile) rs1298504605 0.00001
NM_005751.5(AKAP9):c.2554T>C (p.Phe852Leu) rs372844164 0.00001
NM_005751.5(AKAP9):c.2578A>G (p.Asn860Asp) rs754943177 0.00001
NM_005751.5(AKAP9):c.257C>G (p.Thr86Ser) rs768859701 0.00001
NM_005751.5(AKAP9):c.2618A>G (p.Lys873Arg) rs746429266 0.00001
NM_005751.5(AKAP9):c.2773G>A (p.Ala925Thr) rs1280293616 0.00001
NM_005751.5(AKAP9):c.2867C>T (p.Ser956Leu) rs1169980644 0.00001
NM_005751.5(AKAP9):c.2911G>A (p.Gly971Ser) rs761624453 0.00001
NM_005751.5(AKAP9):c.2997C>G (p.Ile999Met) rs1425297084 0.00001
NM_005751.5(AKAP9):c.3055T>G (p.Leu1019Val) rs769686940 0.00001
NM_005751.5(AKAP9):c.3107C>T (p.Ser1036Phe) rs1799356611 0.00001
NM_005751.5(AKAP9):c.3329G>C (p.Arg1110Thr) rs146811417 0.00001
NM_005751.5(AKAP9):c.3349C>T (p.Arg1117Cys) rs1277410775 0.00001
NM_005751.5(AKAP9):c.3379C>T (p.His1127Tyr) rs1562978382 0.00001
NM_005751.5(AKAP9):c.3424G>A (p.Ala1142Thr) rs751790095 0.00001
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe) rs750350575 0.00001
NM_005751.5(AKAP9):c.3493C>A (p.His1165Asn) rs553209225 0.00001
NM_005751.5(AKAP9):c.3544A>G (p.Lys1182Glu) rs1801192661 0.00001
NM_005751.5(AKAP9):c.3708A>T (p.Glu1236Asp) rs751002727 0.00001
NM_005751.5(AKAP9):c.375G>A (p.Met125Ile) rs1451972452 0.00001
NM_005751.5(AKAP9):c.3871G>C (p.Glu1291Gln) rs768083906 0.00001
NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg) rs200518712 0.00001
NM_005751.5(AKAP9):c.3950T>C (p.Ile1317Thr) rs199773513 0.00001
NM_005751.5(AKAP9):c.3955G>A (p.Val1319Ile) rs1351358009 0.00001
NM_005751.5(AKAP9):c.405+16C>G rs1240937712 0.00001
NM_005751.5(AKAP9):c.406-4T>A rs367997608 0.00001
NM_005751.5(AKAP9):c.4070C>T (p.Thr1357Ile) rs1227164653 0.00001
NM_005751.5(AKAP9):c.4099T>A (p.Cys1367Ser) rs762203528 0.00001
NM_005751.5(AKAP9):c.4142C>T (p.Pro1381Leu) rs148726562 0.00001
NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) rs762293635 0.00001
NM_005751.5(AKAP9):c.4184A>C (p.Asp1395Ala) rs774408420 0.00001
NM_005751.5(AKAP9):c.4274A>C (p.Glu1425Ala) rs747689685 0.00001
NM_005751.5(AKAP9):c.4355G>A (p.Ser1452Asn) rs1805531517 0.00001
NM_005751.5(AKAP9):c.4394C>A (p.Ser1465Tyr) rs779325943 0.00001
NM_005751.5(AKAP9):c.4396G>A (p.Gly1466Arg) rs376262014 0.00001
NM_005751.5(AKAP9):c.4414G>A (p.Ala1472Thr) rs1016368660 0.00001
NM_005751.5(AKAP9):c.4550T>C (p.Leu1517Pro) rs763681864 0.00001
NM_005751.5(AKAP9):c.4552A>G (p.Ser1518Gly) rs776312514 0.00001
NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr) rs746612786 0.00001
NM_005751.5(AKAP9):c.4610A>T (p.Asp1537Val) rs1251741261 0.00001
NM_005751.5(AKAP9):c.4672A>G (p.Thr1558Ala) rs746815931 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met) rs777627168 0.00001
NM_005751.5(AKAP9):c.4832C>T (p.Ala1611Val) rs1430748591 0.00001
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) rs193922723 0.00001
NM_005751.5(AKAP9):c.506A>G (p.His169Arg) rs1562947323 0.00001
NM_005751.5(AKAP9):c.5080G>A (p.Glu1694Lys) rs776780461 0.00001
NM_005751.5(AKAP9):c.509A>T (p.Glu170Val) rs539375675 0.00001
NM_005751.5(AKAP9):c.5183A>G (p.Asn1728Ser) rs1400302163 0.00001
NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr) rs769653270 0.00001
NM_005751.5(AKAP9):c.5351A>G (p.His1784Arg) rs1193122767 0.00001
NM_005751.5(AKAP9):c.5449G>A (p.Glu1817Lys) rs575158854 0.00001
NM_005751.5(AKAP9):c.5456C>G (p.Thr1819Arg) rs745708169 0.00001
NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu) rs1376036983 0.00001
NM_005751.5(AKAP9):c.546G>T (p.Arg182Ser) rs779393285 0.00001
NM_005751.5(AKAP9):c.5505A>G (p.Ile1835Met) rs1057521238 0.00001
NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr) rs776979647 0.00001
NM_005751.5(AKAP9):c.5638C>T (p.Arg1880Cys) rs761946454 0.00001
NM_005751.5(AKAP9):c.5722A>G (p.Arg1908Gly) rs780599681 0.00001
NM_005751.5(AKAP9):c.5771T>C (p.Ile1924Thr) rs1217996637 0.00001
NM_005751.5(AKAP9):c.5779T>C (p.Tyr1927His) rs756486044 0.00001
NM_005751.5(AKAP9):c.5825C>A (p.Thr1942Asn) rs768512576 0.00001
NM_005751.5(AKAP9):c.5840G>A (p.Arg1947His) rs762609050 0.00001
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser) rs767966419 0.00001
NM_005751.5(AKAP9):c.5933G>T (p.Arg1978Ile) rs1274983523 0.00001
NM_005751.5(AKAP9):c.6004A>G (p.Met2002Val) rs1463067477 0.00001
NM_005751.5(AKAP9):c.6022G>A (p.Val2008Ile) rs951438275 0.00001
NM_005751.5(AKAP9):c.6065A>G (p.Gln2022Arg) rs1376477395 0.00001
NM_005751.5(AKAP9):c.6113T>C (p.Ile2038Thr) rs776217591 0.00001
NM_005751.5(AKAP9):c.6114A>G (p.Ile2038Met) rs1463117870 0.00001
NM_005751.5(AKAP9):c.6125A>G (p.Gln2042Arg) rs762427337 0.00001
NM_005751.5(AKAP9):c.6170C>T (p.Ala2057Val) rs975290833 0.00001
NM_005751.5(AKAP9):c.61C>T (p.Arg21Ter) rs1060503553 0.00001
NM_005751.5(AKAP9):c.6200A>T (p.Lys2067Ile) rs1253028052 0.00001
NM_005751.5(AKAP9):c.6259A>G (p.Ile2087Val) rs925619682 0.00001
NM_005751.5(AKAP9):c.6295C>T (p.Arg2099Ter) rs747710944 0.00001
NM_005751.5(AKAP9):c.6343G>T (p.Ala2115Ser) rs761921630 0.00001
NM_005751.5(AKAP9):c.6386T>G (p.Leu2129Trp) rs759474634 0.00001
NM_005751.5(AKAP9):c.6439G>C (p.Glu2147Gln) rs373725997 0.00001
NM_005751.5(AKAP9):c.6507+6G>T rs140872685 0.00001
NM_005751.5(AKAP9):c.6536T>C (p.Val2179Ala) rs1060503580 0.00001
NM_005751.5(AKAP9):c.6728G>A (p.Arg2243His) rs926540370 0.00001
NM_005751.5(AKAP9):c.6895G>C (p.Glu2299Gln) rs1198428381 0.00001
NM_005751.5(AKAP9):c.6961A>G (p.Asn2321Asp) rs1290288696 0.00001
NM_005751.5(AKAP9):c.7034G>C (p.Arg2345Thr) rs1563101732 0.00001
NM_005751.5(AKAP9):c.7054C>T (p.Leu2352Phe) rs767504200 0.00001
NM_005751.5(AKAP9):c.7213G>A (p.Ala2405Thr) rs61746591 0.00001
NM_005751.5(AKAP9):c.7263T>G (p.Phe2421Leu) rs772230351 0.00001
NM_005751.5(AKAP9):c.7469G>A (p.Gly2490Asp) rs760800507 0.00001
NM_005751.5(AKAP9):c.7486A>T (p.Asn2496Tyr) rs886038911 0.00001
NM_005751.5(AKAP9):c.7573A>G (p.Met2525Val) rs1220477751 0.00001
NM_005751.5(AKAP9):c.7575G>A (p.Met2525Ile) rs149357648 0.00001
NM_005751.5(AKAP9):c.7592T>C (p.Phe2531Ser) rs768443350 0.00001
NM_005751.5(AKAP9):c.7636A>G (p.Ile2546Val) rs762351088 0.00001
NM_005751.5(AKAP9):c.7670G>C (p.Ser2557Thr) rs754006562 0.00001
NM_005751.5(AKAP9):c.7721A>G (p.Asn2574Ser) rs748899639 0.00001
NM_005751.5(AKAP9):c.7741C>T (p.Pro2581Ser) rs372955225 0.00001
NM_005751.5(AKAP9):c.7783G>T (p.Asp2595Tyr) rs754949903 0.00001
NM_005751.5(AKAP9):c.7915A>G (p.Lys2639Glu) rs1426533488 0.00001
NM_005751.5(AKAP9):c.7933G>C (p.Glu2645Gln) rs1407994937 0.00001
NM_005751.5(AKAP9):c.7997C>T (p.Pro2666Leu) rs756905236 0.00001
NM_005751.5(AKAP9):c.8019+5G>C rs779652992 0.00001
NM_005751.5(AKAP9):c.8174A>G (p.Asn2725Ser) rs778235746 0.00001
NM_005751.5(AKAP9):c.8212G>C (p.Asp2738His) rs773428761 0.00001
NM_005751.5(AKAP9):c.8404G>T (p.Ala2802Ser) rs1469597087 0.00001
NM_005751.5(AKAP9):c.8431G>A (p.Glu2811Lys) rs868546210 0.00001
NM_005751.5(AKAP9):c.8585A>G (p.Gln2862Arg) rs752618658 0.00001
NM_005751.5(AKAP9):c.8648G>T (p.Gly2883Val) rs1339555983 0.00001
NM_005751.5(AKAP9):c.872A>T (p.Lys291Ile) rs1279150801 0.00001
NM_005751.5(AKAP9):c.8798A>C (p.Glu2933Ala) rs974881166 0.00001
NM_005751.5(AKAP9):c.8843G>A (p.Arg2948Lys) rs1814380468 0.00001
NM_005751.5(AKAP9):c.9004C>G (p.Gln3002Glu) rs778864019 0.00001
NM_005751.5(AKAP9):c.9053G>A (p.Ser3018Asn) rs1372778218 0.00001
NM_005751.5(AKAP9):c.9136C>T (p.Arg3046Trp) rs780099038 0.00001
NM_005751.5(AKAP9):c.9137G>A (p.Arg3046Gln) rs142831346 0.00001
NM_005751.5(AKAP9):c.9173T>C (p.Val3058Ala) rs1214206783 0.00001
NM_005751.5(AKAP9):c.9202A>G (p.Ile3068Val) rs538801309 0.00001
NM_005751.5(AKAP9):c.9329G>A (p.Arg3110Lys) rs769098388 0.00001
NM_005751.5(AKAP9):c.9349C>A (p.Pro3117Thr) rs769119204 0.00001
NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln) rs757123477 0.00001
NM_005751.5(AKAP9):c.9793C>G (p.Gln3265Glu) rs758717247 0.00001
NM_005751.5(AKAP9):c.9814G>A (p.Glu3272Lys) rs771303714 0.00001
NM_005751.5(AKAP9):c.9851A>G (p.Tyr3284Cys) rs780111217 0.00001
NM_005751.5(AKAP9):c.9857C>T (p.Ala3286Val) rs891249707 0.00001
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) rs752685614 0.00001
NC_000007.13:g.(?_91603005)_(91609667_?)del
NC_000007.13:g.(?_91621452)_(91625134_?)del
NC_000007.13:g.(?_91621452)_(91646436_?)dup
NC_000007.13:g.(?_91651532)_(91691820_?)del
NC_000007.13:g.(?_91731888)_(91732160_?)del
NC_000007.13:g.(?_91737798)_(91739483_?)del
NC_000007.14:g.(?_91994611)_(91995810_?)del
NC_000007.14:g.91973711_91973719del rs1381647167
NM_005751.5(AKAP9):c.-214CGG[6] rs371245265
NM_005751.5(AKAP9):c.10015T>A (p.Leu3339Met) rs777913621
NM_005751.5(AKAP9):c.10019C>T (p.Pro3340Leu) rs1011546142
NM_005751.5(AKAP9):c.10024G>A (p.Glu3342Lys)
NM_005751.5(AKAP9):c.10033C>A (p.Leu3345Met)
NM_005751.5(AKAP9):c.10063A>G (p.Lys3355Glu)
NM_005751.5(AKAP9):c.10073G>A (p.Arg3358His)
NM_005751.5(AKAP9):c.10081G>A (p.Glu3361Lys)
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys) rs140470576
NM_005751.5(AKAP9):c.10121T>G (p.Leu3374Trp) rs1816731476
NM_005751.5(AKAP9):c.10138del (p.Met3380fs) rs1816735250
NM_005751.5(AKAP9):c.10142A>G (p.Glu3381Gly)
NM_005751.5(AKAP9):c.10144A>G (p.Lys3382Glu) rs2130901610
NM_005751.5(AKAP9):c.10151G>A (p.Arg3384Lys)
NM_005751.5(AKAP9):c.10154A>G (p.Gln3385Arg)
NM_005751.5(AKAP9):c.10215G>C (p.Met3405Ile)
NM_005751.5(AKAP9):c.10229C>A (p.Ser3410Tyr)
NM_005751.5(AKAP9):c.10229C>G (p.Ser3410Cys)
NM_005751.5(AKAP9):c.1022A>T (p.Glu341Val)
NM_005751.5(AKAP9):c.10231A>G (p.Lys3411Glu)
NM_005751.5(AKAP9):c.10272A>T (p.Gln3424His) rs1397831091
NM_005751.5(AKAP9):c.1027A>G (p.Lys343Glu) rs1799080494
NM_005751.5(AKAP9):c.10291C>T (p.Leu3431Phe) rs761824694
NM_005751.5(AKAP9):c.10310A>C (p.Gln3437Pro)
NM_005751.5(AKAP9):c.10319T>G (p.Met3440Arg) rs751924200
NM_005751.5(AKAP9):c.10349G>A (p.Arg3450Gln) rs548234238
NM_005751.5(AKAP9):c.1036C>G (p.Leu346Val)
NM_005751.5(AKAP9):c.10373G>T (p.Arg3458Ile) rs775340634
NM_005751.5(AKAP9):c.1037T>C (p.Leu346Pro)
NM_005751.5(AKAP9):c.10389C>A (p.Asn3463Lys)
NM_005751.5(AKAP9):c.10417dup (p.Thr3473fs)
NM_005751.5(AKAP9):c.10426A>T (p.Arg3476Ter) rs1063243
NM_005751.5(AKAP9):c.10435A>G (p.Asn3479Asp) rs982934060
NM_005751.5(AKAP9):c.10447C>G (p.Gln3483Glu)
NM_005751.5(AKAP9):c.10486G>T (p.Ala3496Ser) rs759219564
NM_005751.5(AKAP9):c.1048G>T (p.Asp350Tyr) rs1060503579
NM_005751.5(AKAP9):c.10494G>T (p.Leu3498Phe) rs1816853027
NM_005751.5(AKAP9):c.10528C>T (p.His3510Tyr)
NM_005751.5(AKAP9):c.10568C>T (p.Ala3523Val)
NM_005751.5(AKAP9):c.10589C>T (p.Pro3530Leu)
NM_005751.5(AKAP9):c.10600del (p.Ser3534fs)
NM_005751.5(AKAP9):c.10607+5G>C
NM_005751.5(AKAP9):c.10616T>C (p.Phe3539Ser)
NM_005751.5(AKAP9):c.10633G>C (p.Glu3545Gln) rs1816925987
NM_005751.5(AKAP9):c.10653G>C (p.Gln3551His) rs2130904180
NM_005751.5(AKAP9):c.10687A>G (p.Lys3563Glu) rs1297567039
NM_005751.5(AKAP9):c.10691T>C (p.Leu3564Ser) rs1563142906
NM_005751.5(AKAP9):c.10706G>C (p.Gly3569Ala) rs754569380
NM_005751.5(AKAP9):c.10724T>C (p.Val3575Ala)
NM_005751.5(AKAP9):c.10748C>T (p.Ser3583Leu)
NM_005751.5(AKAP9):c.10793A>G (p.His3598Arg)
NM_005751.5(AKAP9):c.10796T>C (p.Ile3599Thr) rs1817215778
NM_005751.5(AKAP9):c.10841T>C (p.Met3614Thr)
NM_005751.5(AKAP9):c.10859T>C (p.Ile3620Thr) rs2130907392
NM_005751.5(AKAP9):c.10868A>G (p.Tyr3623Cys)
NM_005751.5(AKAP9):c.10896+3A>G
NM_005751.5(AKAP9):c.10897-12T>C
NM_005751.5(AKAP9):c.10925C>T (p.Ala3642Val) rs1554468459
NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr) rs367598698
NM_005751.5(AKAP9):c.10946C>A (p.Ala3649Asp)
NM_005751.5(AKAP9):c.10975A>G (p.Lys3659Glu)
NM_005751.5(AKAP9):c.10991A>C (p.Lys3664Thr)
NM_005751.5(AKAP9):c.10997T>G (p.Leu3666Trp)
NM_005751.5(AKAP9):c.11021A>G (p.Tyr3674Cys)
NM_005751.5(AKAP9):c.1104A>T (p.Gln368His)
NM_005751.5(AKAP9):c.11071C>A (p.Pro3691Thr) rs2130909748
NM_005751.5(AKAP9):c.11112A>G (p.Lys3704=) rs749059291
NM_005751.5(AKAP9):c.11128A>G (p.Ser3710Gly)
NM_005751.5(AKAP9):c.11144T>C (p.Leu3715Pro) rs2130913999
NM_005751.5(AKAP9):c.11179G>C (p.Gly3727Arg) rs2130914041
NM_005751.5(AKAP9):c.11189A>G (p.Gln3730Arg) rs372297197
NM_005751.5(AKAP9):c.11194T>A (p.Cys3732Ser)
NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val) rs1157417207
NM_005751.5(AKAP9):c.11218C>T (p.Leu3740Phe)
NM_005751.5(AKAP9):c.11228T>G (p.Met3743Arg)
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11229G>C (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11229G>T (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11230G>C (p.Gly3744Arg) rs200327385
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala) rs148318643
NM_005751.5(AKAP9):c.11235del (p.Gln3746fs)
NM_005751.5(AKAP9):c.11259G>C (p.Glu3753Asp)
NM_005751.5(AKAP9):c.11297G>T (p.Arg3766Leu) rs137892407
NM_005751.5(AKAP9):c.11309G>C (p.Arg3770Thr) rs372941888
NM_005751.5(AKAP9):c.11311G>A (p.Val3771Ile)
NM_005751.5(AKAP9):c.11335A>C (p.Lys3779Gln) rs886062479
NM_005751.5(AKAP9):c.11366C>T (p.Thr3789Ile) rs2130921556
NM_005751.5(AKAP9):c.11384A>G (p.Asn3795Ser)
NM_005751.5(AKAP9):c.1138C>G (p.Leu380Val)
NM_005751.5(AKAP9):c.11396A>T (p.Asp3799Val)
NM_005751.5(AKAP9):c.11407C>A (p.Leu3803Met)
NM_005751.5(AKAP9):c.11419G>A (p.Ala3807Thr) rs1445749676
NM_005751.5(AKAP9):c.11425A>G (p.Lys3809Glu) rs758073953
NM_005751.5(AKAP9):c.11431G>A (p.Asp3811Asn)
NM_005751.5(AKAP9):c.11435C>T (p.Ser3812Leu)
NM_005751.5(AKAP9):c.11452G>T (p.Gly3818Cys) rs1563161103
NM_005751.5(AKAP9):c.1145A>G (p.Asn382Ser)
NM_005751.5(AKAP9):c.11491T>C (p.Tyr3831His) rs1818679501
NM_005751.5(AKAP9):c.11498C>G (p.Ser3833Ter) rs869025357
NM_005751.5(AKAP9):c.11525C>T (p.Ser3842Phe) rs936516286
NM_005751.5(AKAP9):c.11543A>G (p.Asn3848Ser)
NM_005751.5(AKAP9):c.11546+7A>G rs1818689531
NM_005751.5(AKAP9):c.11547-15T>G
NM_005751.5(AKAP9):c.11564C>T (p.Ala3855Val)
NM_005751.5(AKAP9):c.1158A>T (p.Lys386Asn) rs142673316
NM_005751.5(AKAP9):c.11596C>G (p.Gln3866Glu) rs1352511944
NM_005751.5(AKAP9):c.11611G>A (p.Asp3871Asn)
NM_005751.5(AKAP9):c.11611G>T (p.Asp3871Tyr)
NM_005751.5(AKAP9):c.11686+6_11686+7del
NM_005751.5(AKAP9):c.11686G>T (p.Gly3896Cys) rs759598006
NM_005751.5(AKAP9):c.11687-3T>C
NM_005751.5(AKAP9):c.1183A>C (p.Lys395Gln)
NM_005751.5(AKAP9):c.1194G>A (p.Met398Ile)
NM_005751.5(AKAP9):c.1201G>T (p.Val401Phe)
NM_005751.5(AKAP9):c.1213C>G (p.Gln405Glu) rs2130663364
NM_005751.5(AKAP9):c.1242C>G (p.Phe414Leu)
NM_005751.5(AKAP9):c.1247C>T (p.Thr416Ile)
NM_005751.5(AKAP9):c.1250A>G (p.Asp417Gly) rs763158801
NM_005751.5(AKAP9):c.1253T>C (p.Ile418Thr) rs752626437
NM_005751.5(AKAP9):c.1253T>G (p.Ile418Arg)
NM_005751.5(AKAP9):c.1261C>T (p.Arg421Ter) rs1048028478
NM_005751.5(AKAP9):c.1262G>A (p.Arg421Gln) rs864622705
NM_005751.5(AKAP9):c.1264A>C (p.Met422Leu) rs1562958328
NM_005751.5(AKAP9):c.1265T>C (p.Met422Thr)
NM_005751.5(AKAP9):c.1288_1289inv (p.Leu430Lys)
NM_005751.5(AKAP9):c.1295A>C (p.Gln432Pro)
NM_005751.5(AKAP9):c.1300C>T (p.Arg434Trp)
NM_005751.5(AKAP9):c.1320G>A (p.Met440Ile)
NM_005751.5(AKAP9):c.134G>A (p.Ser45Asn)
NM_005751.5(AKAP9):c.1357A>G (p.Ile453Val) rs1201114363
NM_005751.5(AKAP9):c.1361G>A (p.Arg454Lys)
NM_005751.5(AKAP9):c.1364A>G (p.Gln455Arg) rs763247535
NM_005751.5(AKAP9):c.1378A>T (p.Met460Leu) rs751654728
NM_005751.5(AKAP9):c.1394C>T (p.Thr465Ile)
NM_005751.5(AKAP9):c.1405G>A (p.Gly469Arg)
NM_005751.5(AKAP9):c.1413G>A (p.Met471Ile) rs1799153881
NM_005751.5(AKAP9):c.1415A>G (p.Glu472Gly)
NM_005751.5(AKAP9):c.1438A>G (p.Asn480Asp)
NM_005751.5(AKAP9):c.1456G>C (p.Asp486His) rs2130664563
NM_005751.5(AKAP9):c.1469T>C (p.Leu490Ser) rs2130664621
NM_005751.5(AKAP9):c.1483A>G (p.Ile495Val)
NM_005751.5(AKAP9):c.1514C>T (p.Thr505Ile)
NM_005751.5(AKAP9):c.1549G>C (p.Gly517Arg)
NM_005751.5(AKAP9):c.155_156del (p.His52fs)
NM_005751.5(AKAP9):c.1580A>G (p.Gln527Arg)
NM_005751.5(AKAP9):c.1589T>A (p.Leu530His)
NM_005751.5(AKAP9):c.1612A>G (p.Ser538Gly)
NM_005751.5(AKAP9):c.1655C>T (p.Ala552Val) rs1359715379
NM_005751.5(AKAP9):c.166A>G (p.Asn56Asp)
NM_005751.5(AKAP9):c.1706A>G (p.Glu569Gly) rs1440127984
NM_005751.5(AKAP9):c.1711T>A (p.Leu571Met)
NM_005751.5(AKAP9):c.172G>A (p.Asp58Asn)
NM_005751.5(AKAP9):c.1732G>A (p.Ala578Thr) rs2130665727
NM_005751.5(AKAP9):c.1744A>G (p.Arg582Gly)
NM_005751.5(AKAP9):c.1754T>A (p.Leu585Gln) rs757679497
NM_005751.5(AKAP9):c.1768G>A (p.Glu590Lys) rs1799204480
NM_005751.5(AKAP9):c.1772C>G (p.Ala591Gly)
NM_005751.5(AKAP9):c.1774G>A (p.Glu592Lys)
NM_005751.5(AKAP9):c.1775A>C (p.Glu592Ala)
NM_005751.5(AKAP9):c.1783A>G (p.Asn595Asp)
NM_005751.5(AKAP9):c.1809AGAAAA[1] (p.604EK[1]) rs1455029822
NM_005751.5(AKAP9):c.1811A>G (p.Glu604Gly)
NM_005751.5(AKAP9):c.1826C>A (p.Ala609Asp) rs140973676
NM_005751.5(AKAP9):c.1841T>C (p.Met614Thr)
NM_005751.5(AKAP9):c.185G>A (p.Cys62Tyr) rs1433559893
NM_005751.5(AKAP9):c.185G>C (p.Cys62Ser) rs1433559893
NM_005751.5(AKAP9):c.1879A>T (p.Thr627Ser)
NM_005751.5(AKAP9):c.1928A>T (p.Asp643Val)
NM_005751.5(AKAP9):c.193A>G (p.Met65Val)
NM_005751.5(AKAP9):c.1945C>T (p.Arg649Ter) rs779398715
NM_005751.5(AKAP9):c.1946G>A (p.Arg649Gln)
NM_005751.5(AKAP9):c.1957G>T (p.Glu653Ter)
NM_005751.5(AKAP9):c.1962A>T (p.Lys654Asn)
NM_005751.5(AKAP9):c.2019_2023del (p.Met674fs)
NM_005751.5(AKAP9):c.2065A>G (p.Ile689Val)
NM_005751.5(AKAP9):c.2069_2075del (p.Thr690fs) rs1584040367
NM_005751.5(AKAP9):c.2072A>C (p.Lys691Thr)
NM_005751.5(AKAP9):c.2084T>C (p.Leu695Ser) rs1393038162
NM_005751.5(AKAP9):c.2110G>T (p.Asp704Tyr)
NM_005751.5(AKAP9):c.2122T>A (p.Ser708Thr)
NM_005751.5(AKAP9):c.2125C>T (p.Leu709Phe)
NM_005751.5(AKAP9):c.2150T>C (p.Met717Thr) rs2130667121
NM_005751.5(AKAP9):c.2183T>C (p.Ile728Thr)
NM_005751.5(AKAP9):c.2191_2194del (p.Leu731fs)
NM_005751.5(AKAP9):c.2227C>A (p.Gln743Lys)
NM_005751.5(AKAP9):c.2228A>C (p.Gln743Pro)
NM_005751.5(AKAP9):c.2257_2258del (p.Glu753fs)
NM_005751.5(AKAP9):c.2275A>G (p.Met759Val) rs1584041613
NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu) rs776287498
NM_005751.5(AKAP9):c.2305A>G (p.Lys769Glu) rs1799261123
NM_005751.5(AKAP9):c.2330A>G (p.Asn777Ser)
NM_005751.5(AKAP9):c.2356A>C (p.Thr786Pro) rs1799267991
NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser) rs768026366
NM_005751.5(AKAP9):c.2362G>A (p.Glu788Lys)
NM_005751.5(AKAP9):c.2389G>A (p.Val797Ile) rs971851892
NM_005751.5(AKAP9):c.2389G>T (p.Val797Phe)
NM_005751.5(AKAP9):c.2425A>T (p.Ile809Phe) rs144615758
NM_005751.5(AKAP9):c.2435A>T (p.Lys812Ile)
NM_005751.5(AKAP9):c.2454G>A (p.Trp818Ter)
NM_005751.5(AKAP9):c.2506T>C (p.Cys836Arg)
NM_005751.5(AKAP9):c.2528T>C (p.Ile843Thr)
NM_005751.5(AKAP9):c.2542A>G (p.Asn848Asp)
NM_005751.5(AKAP9):c.2550T>G (p.Phe850Leu) rs1584043537
NM_005751.5(AKAP9):c.2567A>G (p.Asn856Ser)
NM_005751.5(AKAP9):c.2585_2586del (p.Gln862fs) rs1799296048
NM_005751.5(AKAP9):c.2605G>T (p.Ala869Ser)
NM_005751.5(AKAP9):c.2612T>C (p.Leu871Pro)
NM_005751.5(AKAP9):c.2615T>G (p.Leu872Arg) rs1306567728
NM_005751.5(AKAP9):c.264T>G (p.His88Gln) rs1554389115
NM_005751.5(AKAP9):c.2677_2681del (p.Leu893fs)
NM_005751.5(AKAP9):c.2684C>A (p.Ala895Glu) rs1426532950
NM_005751.5(AKAP9):c.2694A>C (p.Glu898Asp)
NM_005751.5(AKAP9):c.2758G>T (p.Asp920Tyr) rs1584044970
NM_005751.5(AKAP9):c.2759A>G (p.Asp920Gly)
NM_005751.5(AKAP9):c.2762A>G (p.Lys921Arg) rs1584045006
NM_005751.5(AKAP9):c.2779A>G (p.Thr927Ala) rs1554405190
NM_005751.5(AKAP9):c.2801T>G (p.Val934Gly) rs750000254
NM_005751.5(AKAP9):c.2809G>T (p.Asp937Tyr) rs147543076
NM_005751.5(AKAP9):c.281G>T (p.Ser94Ile) rs571281120
NM_005751.5(AKAP9):c.2836G>C (p.Glu946Gln)
NM_005751.5(AKAP9):c.2849G>A (p.Arg950Gln)
NM_005751.5(AKAP9):c.2851G>C (p.Glu951Gln) rs1799328599
NM_005751.5(AKAP9):c.2861A>G (p.Glu954Gly)
NM_005751.5(AKAP9):c.286G>A (p.Glu96Lys) rs2130563549
NM_005751.5(AKAP9):c.2948_2952del (p.Leu983fs) rs1799337589
NM_005751.5(AKAP9):c.2978G>A (p.Arg993Lys)
NM_005751.5(AKAP9):c.2983A>G (p.Arg995Gly)
NM_005751.5(AKAP9):c.2998A>G (p.Ile1000Val)
NM_005751.5(AKAP9):c.3038A>T (p.Asp1013Val) rs1554405449
NM_005751.5(AKAP9):c.3041_3044del (p.Thr1014fs)
NM_005751.5(AKAP9):c.3047_3050del (p.Val1016fs) rs1799349510
NM_005751.5(AKAP9):c.3071T>G (p.Val1024Gly)
NM_005751.5(AKAP9):c.3077T>G (p.Met1026Arg)
NM_005751.5(AKAP9):c.3085A>G (p.Arg1029Gly)
NM_005751.5(AKAP9):c.3116A>G (p.Asn1039Ser)
NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu) rs1265369157
NM_005751.5(AKAP9):c.3119A>T (p.Lys1040Ile)
NM_005751.5(AKAP9):c.3128G>C (p.Gly1043Ala) rs2130671150
NM_005751.5(AKAP9):c.3155A>G (p.Asp1052Gly) rs779035246
NM_005751.5(AKAP9):c.3181_3182del (p.Val1061fs)
NM_005751.5(AKAP9):c.3226C>G (p.Pro1076Ala) rs774196711
NM_005751.5(AKAP9):c.323C>T (p.Ser108Leu)
NM_005751.5(AKAP9):c.3240G>T (p.Lys1080Asn)
NM_005751.5(AKAP9):c.3250C>T (p.Leu1084Phe)
NM_005751.5(AKAP9):c.3256G>A (p.Ala1086Thr)
NM_005751.5(AKAP9):c.325A>G (p.Thr109Ala)
NM_005751.5(AKAP9):c.3265C>T (p.Pro1089Ser) rs1799379984
NM_005751.5(AKAP9):c.3275A>C (p.Asn1092Thr)
NM_005751.5(AKAP9):c.3298A>C (p.Asn1100His)
NM_005751.5(AKAP9):c.3358C>G (p.Leu1120Val) rs1300887608
NM_005751.5(AKAP9):c.3365T>A (p.Leu1122Gln)
NM_005751.5(AKAP9):c.3377C>A (p.Thr1126Asn) rs1263526528
NM_005751.5(AKAP9):c.3379C>G (p.His1127Asp) rs1562978382
NM_005751.5(AKAP9):c.3380A>C (p.His1127Pro)
NM_005751.5(AKAP9):c.3381T>G (p.His1127Gln) rs746651292
NM_005751.5(AKAP9):c.3391G>A (p.Val1131Ile) rs1800893766
NM_005751.5(AKAP9):c.3395G>A (p.Arg1132His)
NM_005751.5(AKAP9):c.3401A>G (p.Tyr1134Cys)
NM_005751.5(AKAP9):c.3418G>A (p.Asp1140Asn)
NM_005751.5(AKAP9):c.3427C>G (p.Leu1143Val)
NM_005751.5(AKAP9):c.3460C>A (p.Gln1154Lys)
NM_005751.5(AKAP9):c.3469A>G (p.Lys1157Glu)
NM_005751.5(AKAP9):c.3493C>T (p.His1165Tyr)
NM_005751.5(AKAP9):c.3495C>G (p.His1165Gln) rs1800906846
NM_005751.5(AKAP9):c.3517A>G (p.Lys1173Glu) rs1800909715
NM_005751.5(AKAP9):c.3538G>A (p.Glu1180Lys) rs1423656714
NM_005751.5(AKAP9):c.3553C>A (p.His1185Asn)
NM_005751.5(AKAP9):c.3557T>G (p.Leu1186Arg) rs995498018
NM_005751.5(AKAP9):c.3564T>G (p.Ile1188Met)
NM_005751.5(AKAP9):c.3581C>G (p.Ala1194Gly)
NM_005751.5(AKAP9):c.3613-16A>G
NM_005751.5(AKAP9):c.3613-4A>G rs1056194624
NM_005751.5(AKAP9):c.3631G>T (p.Gly1211Cys) rs746335356
NM_005751.5(AKAP9):c.3643_3648del (p.Thr1215_Pro1216del) rs1562986062
NM_005751.5(AKAP9):c.3659G>A (p.Cys1220Tyr) rs375200151
NM_005751.5(AKAP9):c.3685A>G (p.Asn1229Asp) rs763770694
NM_005751.5(AKAP9):c.3689C>G (p.Ser1230Cys)
NM_005751.5(AKAP9):c.3715G>C (p.Asp1239His)
NM_005751.5(AKAP9):c.3751+6A>T
NM_005751.5(AKAP9):c.3757C>G (p.Gln1253Glu) rs1801604245
NM_005751.5(AKAP9):c.3767T>G (p.Met1256Arg)
NM_005751.5(AKAP9):c.3769C>T (p.His1257Tyr)
NM_005751.5(AKAP9):c.3778C>A (p.Leu1260Ile)
NM_005751.5(AKAP9):c.3796G>A (p.Glu1266Lys) rs1801612687
NM_005751.5(AKAP9):c.3808C>T (p.Leu1270Phe)
NM_005751.5(AKAP9):c.380C>T (p.Thr127Ile)
NM_005751.5(AKAP9):c.3826C>T (p.Arg1276Ter)
NM_005751.5(AKAP9):c.3837+5G>A
NM_005751.5(AKAP9):c.3844G>A (p.Gly1282Arg)
NM_005751.5(AKAP9):c.3853A>G (p.Thr1285Ala)
NM_005751.5(AKAP9):c.3857A>G (p.Asp1286Gly) rs1802428673
NM_005751.5(AKAP9):c.3874T>C (p.Phe1292Leu) rs886062472
NM_005751.5(AKAP9):c.3881A>G (p.Glu1294Gly)
NM_005751.5(AKAP9):c.3907G>C (p.Glu1303Gln) rs1802434131
NM_005751.5(AKAP9):c.3919A>G (p.Ile1307Val)
NM_005751.5(AKAP9):c.392C>T (p.Thr131Ile) rs751675949
NM_005751.5(AKAP9):c.3931A>T (p.Met1311Leu)
NM_005751.5(AKAP9):c.3947A>T (p.Asp1316Val)
NM_005751.5(AKAP9):c.394A>C (p.Asn132His) rs755049262
NM_005751.5(AKAP9):c.394A>G (p.Asn132Asp) rs755049262
NM_005751.5(AKAP9):c.3959A>G (p.Asn1320Ser)
NM_005751.5(AKAP9):c.3961C>A (p.His1321Asn) rs2130731806
NM_005751.5(AKAP9):c.3968G>A (p.Ser1323Asn)
NM_005751.5(AKAP9):c.3984G>T (p.Leu1328=)
NM_005751.5(AKAP9):c.3991C>T (p.Leu1331Phe)
NM_005751.5(AKAP9):c.4014A>C (p.Glu1338Asp)
NM_005751.5(AKAP9):c.4022A>G (p.Gln1341Arg)
NM_005751.5(AKAP9):c.4026A>T (p.Glu1342Asp) rs1802529842
NM_005751.5(AKAP9):c.4034G>C (p.Ser1345Thr)
NM_005751.5(AKAP9):c.4039A>G (p.Ile1347Val) rs756091390
NM_005751.5(AKAP9):c.4041A>G (p.Ile1347Met) rs1562998284
NM_005751.5(AKAP9):c.4055A>T (p.Gln1352Leu) rs878854807
NM_005751.5(AKAP9):c.4070C>G (p.Thr1357Ser) rs1227164653
NM_005751.5(AKAP9):c.4081T>A (p.Tyr1361Asn) rs1584171307
NM_005751.5(AKAP9):c.4096C>T (p.His1366Tyr)
NM_005751.5(AKAP9):c.4097A>G (p.His1366Arg) rs777080528
NM_005751.5(AKAP9):c.4102T>A (p.Leu1368Ile) rs1562998566
NM_005751.5(AKAP9):c.4103T>C (p.Leu1368Ser)
NM_005751.5(AKAP9):c.4114C>T (p.Leu1372Phe)
NM_005751.5(AKAP9):c.4130_4138del (p.Glu1377_Thr1379del) rs774423206
NM_005751.5(AKAP9):c.4151T>A (p.Leu1384Ter)
NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile)
NM_005751.5(AKAP9):c.419G>A (p.Gly140Asp) rs1447648184
NM_005751.5(AKAP9):c.4225A>G (p.Asn1409Asp) rs1292299879
NM_005751.5(AKAP9):c.4240A>G (p.Ile1414Val) rs1006205177
NM_005751.5(AKAP9):c.4241del (p.Ile1414fs)
NM_005751.5(AKAP9):c.4270G>A (p.Glu1424Lys)
NM_005751.5(AKAP9):c.4277del (p.Thr1426fs) rs2130757330
NM_005751.5(AKAP9):c.4280A>G (p.Asn1427Ser)
NM_005751.5(AKAP9):c.4304A>G (p.Gln1435Arg) rs1584230123
NM_005751.5(AKAP9):c.4322AAG[2] (p.Glu1443del) rs1416485911
NM_005751.5(AKAP9):c.4336A>C (p.Lys1446Gln)
NM_005751.5(AKAP9):c.4348T>A (p.Ser1450Thr) rs767289847
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val) rs1330827109
NM_005751.5(AKAP9):c.4358T>G (p.Ile1453Arg)
NM_005751.5(AKAP9):c.4374A>G (p.Gln1458=)
NM_005751.5(AKAP9):c.4387A>G (p.Arg1463Gly)
NM_005751.5(AKAP9):c.4390A>G (p.Ile1464Val)
NM_005751.5(AKAP9):c.439G>C (p.Glu147Gln) rs1797947770
NM_005751.5(AKAP9):c.4402A>C (p.Lys1468Gln)
NM_005751.5(AKAP9):c.4408A>G (p.Asn1470Asp)
NM_005751.5(AKAP9):c.4453C>G (p.Gln1485Glu)
NM_005751.5(AKAP9):c.4486G>T (p.Asp1496Tyr) rs1443301693
NM_005751.5(AKAP9):c.4513A>G (p.Thr1505Ala) rs1228321833
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del) rs764066037
NM_005751.5(AKAP9):c.4604C>T (p.Pro1535Leu)
NM_005751.5(AKAP9):c.4607A>C (p.His1536Pro)
NM_005751.5(AKAP9):c.4614A>G (p.Ile1538Met)
NM_005751.5(AKAP9):c.4615C>T (p.Pro1539Ser) rs916216692
NM_005751.5(AKAP9):c.4619A>G (p.Glu1540Gly)
NM_005751.5(AKAP9):c.4631G>C (p.Cys1544Ser)
NM_005751.5(AKAP9):c.4638_4641del (p.Thr1547fs) rs751121443
NM_005751.5(AKAP9):c.463A>T (p.Thr155Ser)
NM_005751.5(AKAP9):c.464C>T (p.Thr155Ile) rs142632541
NM_005751.5(AKAP9):c.4686_4689del (p.Arg1562fs)
NM_005751.5(AKAP9):c.4692+4A>G
NM_005751.5(AKAP9):c.4707T>G (p.Ile1569Met) rs1207821150
NM_005751.5(AKAP9):c.4724A>G (p.Asp1575Gly)
NM_005751.5(AKAP9):c.4724A>T (p.Asp1575Val) rs145763255
NM_005751.5(AKAP9):c.4726G>A (p.Ala1576Thr) rs868279502
NM_005751.5(AKAP9):c.4751A>C (p.Glu1584Ala) rs1805959363
NM_005751.5(AKAP9):c.4769T>G (p.Met1590Arg) rs780941891
NM_005751.5(AKAP9):c.4772G>A (p.Arg1591Lys)
NM_005751.5(AKAP9):c.4784T>C (p.Val1595Ala)
NM_005751.5(AKAP9):c.4787G>T (p.Arg1596Leu)
NM_005751.5(AKAP9):c.4796A>G (p.Gln1599Arg)
NM_005751.5(AKAP9):c.4800A>T (p.Glu1600Asp) rs138765069
NM_005751.5(AKAP9):c.4850A>G (p.Glu1617Gly) rs1805979251
NM_005751.5(AKAP9):c.485G>C (p.Ser162Thr) rs759783541
NM_005751.5(AKAP9):c.4882G>A (p.Glu1628Lys)
NM_005751.5(AKAP9):c.4897C>T (p.Leu1633Phe)
NM_005751.5(AKAP9):c.49-3T>C
NM_005751.5(AKAP9):c.4916A>G (p.Gln1639Arg) rs1805992353
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del) rs771190405
NM_005751.5(AKAP9):c.5131_5132delinsTT (p.Asp1711Phe) rs2130785629
NM_005751.5(AKAP9):c.5134G>A (p.Val1712Met)
NM_005751.5(AKAP9):c.5162+3A>G
NM_005751.5(AKAP9):c.5162+5A>G
NM_005751.5(AKAP9):c.5168C>T (p.Ala1723Val)
NM_005751.5(AKAP9):c.5176A>G (p.Lys1726Glu) rs779330917
NM_005751.5(AKAP9):c.5203C>T (p.Leu1735Phe) rs1328671206
NM_005751.5(AKAP9):c.5233G>C (p.Val1745Leu) rs1060503578
NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala) rs201632145
NM_005751.5(AKAP9):c.5243C>G (p.Thr1748Arg)
NM_005751.5(AKAP9):c.5252G>A (p.Arg1751His)
NM_005751.5(AKAP9):c.5258T>C (p.Val1753Ala) rs1563041499
NM_005751.5(AKAP9):c.5264G>A (p.Gly1755Glu)
NM_005751.5(AKAP9):c.5285A>G (p.Lys1762Arg)
NM_005751.5(AKAP9):c.5332T>A (p.Ser1778Thr) rs1554430888
NM_005751.5(AKAP9):c.5356G>A (p.Glu1786Lys) rs377560937
NM_005751.5(AKAP9):c.5356G>C (p.Glu1786Gln)
NM_005751.5(AKAP9):c.5357A>G (p.Glu1786Gly)
NM_005751.5(AKAP9):c.5363C>G (p.Thr1788Arg) rs757844124
NM_005751.5(AKAP9):c.5369-12C>G
NM_005751.5(AKAP9):c.5434T>C (p.Ser1812Pro) rs1554435152
NM_005751.5(AKAP9):c.546G>C (p.Arg182Ser)
NM_005751.5(AKAP9):c.5476G>A (p.Val1826Met) rs1554435236
NM_005751.5(AKAP9):c.547del (p.Val183fs)
NM_005751.5(AKAP9):c.5486G>A (p.Gly1829Asp)
NM_005751.5(AKAP9):c.5492C>A (p.Ala1831Asp)
NM_005751.5(AKAP9):c.5528T>C (p.Met1843Thr) rs538621911
NM_005751.5(AKAP9):c.5555C>G (p.Ala1852Gly)
NM_005751.5(AKAP9):c.555T>A (p.Tyr185Ter)
NM_005751.5(AKAP9):c.5593A>C (p.Ser1865Arg)
NM_005751.5(AKAP9):c.5593A>G (p.Ser1865Gly)
NM_005751.5(AKAP9):c.5601+4A>C
NM_005751.5(AKAP9):c.5601+6C>T
NM_005751.5(AKAP9):c.5612C>G (p.Ala1871Gly) rs748884520
NM_005751.5(AKAP9):c.5612C>T (p.Ala1871Val) rs748884520
NM_005751.5(AKAP9):c.5627_5630del (p.Thr1876fs) rs755378911
NM_005751.5(AKAP9):c.5653C>G (p.Gln1885Glu) rs1809744474
NM_005751.5(AKAP9):c.5660AAG[1] (p.Glu1888del) rs2130821380
NM_005751.5(AKAP9):c.5678_5679insAAT (p.Leu1893_Lys1894insIle)
NM_005751.5(AKAP9):c.5682G>C (p.Lys1894Asn)
NM_005751.5(AKAP9):c.5698C>G (p.Arg1900Gly) rs978219635
NM_005751.5(AKAP9):c.5698C>T (p.Arg1900Ter) rs978219635
NM_005751.5(AKAP9):c.5699G>A (p.Arg1900Gln)
NM_005751.5(AKAP9):c.5704C>T (p.Arg1902Cys)
NM_005751.5(AKAP9):c.5752A>G (p.Ser1918Gly) rs1000673132
NM_005751.5(AKAP9):c.576+5G>A
NM_005751.5(AKAP9):c.576+5G>T rs376631476
NM_005751.5(AKAP9):c.5761G>C (p.Glu1921Gln) rs2130821673
NM_005751.5(AKAP9):c.5765-14A>G
NM_005751.5(AKAP9):c.576G>C (p.Gln192His) rs749763833
NM_005751.5(AKAP9):c.5776G>A (p.Gly1926Ser)
NM_005751.5(AKAP9):c.5777_5778delinsAT (p.Gly1926Asp) rs2130824016
NM_005751.5(AKAP9):c.582A>G (p.Gln194=)
NM_005751.5(AKAP9):c.5851_5852delinsTT (p.Glu1951Leu)
NM_005751.5(AKAP9):c.5853GTT[1] (p.Leu1953del)
NM_005751.5(AKAP9):c.5947A>C (p.Met1983Leu)
NM_005751.5(AKAP9):c.5947A>G (p.Met1983Val) rs766060779
NM_005751.5(AKAP9):c.5953del (p.Ala1985fs)
NM_005751.5(AKAP9):c.5956G>A (p.Glu1986Lys)
NM_005751.5(AKAP9):c.5968G>T (p.Val1990Phe) rs767058162
NM_005751.5(AKAP9):c.5977+4_5977+7del
NM_005751.5(AKAP9):c.5978-1_5978del rs2130830320
NM_005751.5(AKAP9):c.6002T>C (p.Leu2001Ser) rs1810583297
NM_005751.5(AKAP9):c.6026A>G (p.Gln2009Arg)
NM_005751.5(AKAP9):c.6047G>A (p.Arg2016His)
NM_005751.5(AKAP9):c.6067G>A (p.Val2023Met)
NM_005751.5(AKAP9):c.6087T>G (p.Asp2029Glu) rs771793410
NM_005751.5(AKAP9):c.6088G>C (p.Val2030Leu)
NM_005751.5(AKAP9):c.6098A>G (p.Gln2033Arg) rs1810599049
NM_005751.5(AKAP9):c.6104G>A (p.Ser2035Asn) rs1810600383
NM_005751.5(AKAP9):c.6146T>C (p.Met2049Thr) rs1810610818
NM_005751.5(AKAP9):c.6166C>T (p.Gln2056Ter)
NM_005751.5(AKAP9):c.6209A>T (p.Asp2070Val)
NM_005751.5(AKAP9):c.622A>G (p.Thr208Ala)
NM_005751.5(AKAP9):c.6241G>C (p.Asp2081His) rs1810782045
NM_005751.5(AKAP9):c.6265A>G (p.Lys2089Glu)
NM_005751.5(AKAP9):c.62G>A (p.Arg21Gln)
NM_005751.5(AKAP9):c.6300C>G (p.Phe2100Leu)
NM_005751.5(AKAP9):c.6302A>G (p.Gln2101Arg) rs201545032
NM_005751.5(AKAP9):c.6316C>T (p.His2106Tyr) rs2130833023
NM_005751.5(AKAP9):c.6343G>A (p.Ala2115Thr) rs761921630
NM_005751.5(AKAP9):c.6344C>A (p.Ala2115Glu)
NM_005751.5(AKAP9):c.6382C>A (p.Leu2128Ile) rs878854808
NM_005751.5(AKAP9):c.6392C>G (p.Ser2131Cys)
NM_005751.5(AKAP9):c.6394A>G (p.Lys2132Glu)
NM_005751.5(AKAP9):c.6459A>G (p.Val2153=)
NM_005751.5(AKAP9):c.6481C>T (p.Leu2161Phe)
NM_005751.5(AKAP9):c.6505A>C (p.Lys2169Gln)
NM_005751.5(AKAP9):c.6507+6G>A rs140872685
NM_005751.5(AKAP9):c.6514G>T (p.Asp2172Tyr)
NM_005751.5(AKAP9):c.6517C>G (p.Arg2173Gly) rs773455040
NM_005751.5(AKAP9):c.6557C>G (p.Ser2186Cys)
NM_005751.5(AKAP9):c.6565G>A (p.Val2189Ile) rs536744826
NM_005751.5(AKAP9):c.656_660del (p.Arg219fs) rs768274954
NM_005751.5(AKAP9):c.6596A>G (p.Asp2199Gly)
NM_005751.5(AKAP9):c.6641A>G (p.Gln2214Arg)
NM_005751.5(AKAP9):c.6679C>T (p.Gln2227Ter) rs2130855904
NM_005751.5(AKAP9):c.6742G>C (p.Glu2248Gln)
NM_005751.5(AKAP9):c.6745C>G (p.Gln2249Glu)
NM_005751.5(AKAP9):c.6797A>G (p.Lys2266Arg)
NM_005751.5(AKAP9):c.67A>G (p.Arg23Gly) rs974543308
NM_005751.5(AKAP9):c.6805G>A (p.Asp2269Asn) rs1353254249
NM_005751.5(AKAP9):c.6806A>G (p.Asp2269Gly)
NM_005751.5(AKAP9):c.6821A>C (p.Gln2274Pro)
NM_005751.5(AKAP9):c.6851C>T (p.Ala2284Val)
NM_005751.5(AKAP9):c.6880A>G (p.Ile2294Val)
NM_005751.5(AKAP9):c.6882T>G (p.Ile2294Met) rs2130858119
NM_005751.5(AKAP9):c.6883G>A (p.Asp2295Asn) rs1554449451
NM_005751.5(AKAP9):c.6885_6888del (p.Asp2295_Gln2296insTer)
NM_005751.5(AKAP9):c.6893A>G (p.Asn2298Ser) rs1812855960
NM_005751.5(AKAP9):c.6898C>G (p.Gln2300Glu)
NM_005751.5(AKAP9):c.6946-3_6946-1del
NM_005751.5(AKAP9):c.6976G>A (p.Asp2326Asn) rs1473941536
NM_005751.5(AKAP9):c.7031A>G (p.Asn2344Ser) rs2130860716
NM_005751.5(AKAP9):c.7048G>C (p.Glu2350Gln) rs2130860788
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn) rs150968594
NM_005751.5(AKAP9):c.7090G>A (p.Ala2364Thr) rs1408184706
NM_005751.5(AKAP9):c.7093A>C (p.Asn2365His)
NM_005751.5(AKAP9):c.7115T>C (p.Met2372Thr)
NM_005751.5(AKAP9):c.7168G>A (p.Val2390Met)
NM_005751.5(AKAP9):c.7169T>C (p.Val2390Ala)
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly) rs372568340
NM_005751.5(AKAP9):c.719T>C (p.Ile240Thr)
NM_005751.5(AKAP9):c.7229C>A (p.Thr2410Asn)
NM_005751.5(AKAP9):c.7271A>C (p.Asn2424Thr)
NM_005751.5(AKAP9):c.7291T>C (p.Phe2431Leu) rs1305633544
NM_005751.5(AKAP9):c.7292T>C (p.Phe2431Ser) rs2130861406
NM_005751.5(AKAP9):c.732+4_732+7del rs1488983909
NM_005751.5(AKAP9):c.7330C>G (p.Gln2444Glu)
NM_005751.5(AKAP9):c.7346A>G (p.Asn2449Ser)
NM_005751.5(AKAP9):c.7357G>A (p.Val2453Met)
NM_005751.5(AKAP9):c.7357G>C (p.Val2453Leu)
NM_005751.5(AKAP9):c.7365A>G (p.Ile2455Met)
NM_005751.5(AKAP9):c.7453T>C (p.Ser2485Pro)
NM_005751.5(AKAP9):c.7459G>C (p.Glu2487Gln)
NM_005751.5(AKAP9):c.7474G>A (p.Gly2492Ser) rs769994025
NM_005751.5(AKAP9):c.7482A>G (p.Ile2494Met)
NM_005751.5(AKAP9):c.7486A>G (p.Asn2496Asp) rs886038911
NM_005751.5(AKAP9):c.7519A>G (p.Thr2507Ala) rs2130862031
NM_005751.5(AKAP9):c.7526G>A (p.Ser2509Asn)
NM_005751.5(AKAP9):c.7579G>A (p.Glu2527Lys) rs1554451207
NM_005751.5(AKAP9):c.7582C>G (p.Gln2528Glu)
NM_005751.5(AKAP9):c.7588C>A (p.Gln2530Lys) rs1813203584
NM_005751.5(AKAP9):c.7606C>T (p.Leu2536Phe) rs1554451226
NM_005751.5(AKAP9):c.7616A>G (p.Lys2539Arg)
NM_005751.5(AKAP9):c.7618A>G (p.Ile2540Val)
NM_005751.5(AKAP9):c.7651G>A (p.Val2551Met)
NM_005751.5(AKAP9):c.7657G>C (p.Ala2553Pro) rs201627038
NM_005751.5(AKAP9):c.7700A>T (p.Tyr2567Phe)
NM_005751.5(AKAP9):c.7712G>A (p.Cys2571Tyr)
NM_005751.5(AKAP9):c.7726A>G (p.Thr2576Ala) rs2130862491
NM_005751.5(AKAP9):c.7768A>T (p.Asn2590Tyr)
NM_005751.5(AKAP9):c.7814C>T (p.Thr2605Ile) rs2130862701
NM_005751.5(AKAP9):c.7816T>G (p.Leu2606Val) rs774041291
NM_005751.5(AKAP9):c.7821A>T (p.Arg2607Ser)
NM_005751.5(AKAP9):c.7843del (p.Val2615fs) rs1813241938
NM_005751.5(AKAP9):c.7856A>G (p.His2619Arg) rs1813243568
NM_005751.5(AKAP9):c.7862G>A (p.Ser2621Asn) rs1290337696
NM_005751.5(AKAP9):c.7865T>C (p.Leu2622Ser)
NM_005751.5(AKAP9):c.7885G>C (p.Val2629Leu) rs2130862834
NM_005751.5(AKAP9):c.7890A>T (p.Glu2630Asp)
NM_005751.5(AKAP9):c.7905T>G (p.Asn2635Lys) rs1344028429
NM_005751.5(AKAP9):c.7906G>A (p.Val2636Ile) rs1183671911
NM_005751.5(AKAP9):c.7919A>C (p.Glu2640Ala)
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del) rs786205262
NM_005751.5(AKAP9):c.7973G>A (p.Arg2658Lys) rs2130863054
NM_005751.5(AKAP9):c.7989AAG[1] (p.Arg2664del) rs746947919
NM_005751.5(AKAP9):c.7989_7993del (p.Arg2664fs)
NM_005751.5(AKAP9):c.7999C>G (p.Gln2667Glu)
NM_005751.5(AKAP9):c.8003A>G (p.Asp2668Gly) rs1813267926
NM_005751.5(AKAP9):c.8117C>G (p.Ala2706Gly)
NM_005751.5(AKAP9):c.8120G>A (p.Ser2707Asn)
NM_005751.5(AKAP9):c.8134G>A (p.Ala2712Thr)
NM_005751.5(AKAP9):c.8140A>G (p.Lys2714Glu)
NM_005751.5(AKAP9):c.8148AGA[1] (p.Glu2718del) rs752164981
NM_005751.5(AKAP9):c.8149G>C (p.Glu2717Gln)
NM_005751.5(AKAP9):c.8150A>G (p.Glu2717Gly)
NM_005751.5(AKAP9):c.8152G>A (p.Glu2718Lys)
NM_005751.5(AKAP9):c.8161G>C (p.Val2721Leu)
NM_005751.5(AKAP9):c.8200A>C (p.Ser2734Arg) rs1554453992
NM_005751.5(AKAP9):c.8200A>T (p.Ser2734Cys) rs1554453992
NM_005751.5(AKAP9):c.8206G>A (p.Val2736Ile)
NM_005751.5(AKAP9):c.8221G>A (p.Ala2741Thr)
NM_005751.5(AKAP9):c.8222C>T (p.Ala2741Val)
NM_005751.5(AKAP9):c.8241G>T (p.Leu2747Phe)
NM_005751.5(AKAP9):c.8242T>C (p.Ser2748Pro)
NM_005751.5(AKAP9):c.82G>A (p.Asp28Asn)
NM_005751.5(AKAP9):c.8335G>T (p.Ala2779Ser) rs1463340231
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.5(AKAP9):c.8363T>C (p.Ile2788Thr) rs1554454234
NM_005751.5(AKAP9):c.8380A>T (p.Thr2794Ser)
NM_005751.5(AKAP9):c.8434T>G (p.Cys2812Gly)
NM_005751.5(AKAP9):c.8437T>C (p.Ser2813Pro)
NM_005751.5(AKAP9):c.8447A>T (p.Glu2816Val)
NM_005751.5(AKAP9):c.845A>C (p.His282Pro)
NM_005751.5(AKAP9):c.845A>G (p.His282Arg) rs762460761
NM_005751.5(AKAP9):c.8481A>C (p.Lys2827Asn) rs1813960301
NM_005751.5(AKAP9):c.8491A>G (p.Met2831Val)
NM_005751.5(AKAP9):c.8499A>T (p.Glu2833Asp) rs747346120
NM_005751.5(AKAP9):c.8506G>A (p.Ala2836Thr)
NM_005751.5(AKAP9):c.8510C>G (p.Ala2837Gly)
NM_005751.5(AKAP9):c.8524A>T (p.Met2842Leu) rs886062477
NM_005751.5(AKAP9):c.8531C>A (p.Ser2844Tyr)
NM_005751.5(AKAP9):c.8575G>T (p.Val2859Phe) rs864622133
NM_005751.5(AKAP9):c.8581G>A (p.Val2861Ile)
NM_005751.5(AKAP9):c.8601A>T (p.Glu2867Asp) rs1263755495
NM_005751.5(AKAP9):c.8626C>A (p.Gln2876Lys) rs1196999529
NM_005751.5(AKAP9):c.863A>G (p.Gln288Arg)
NM_005751.5(AKAP9):c.8656A>C (p.Ile2886Leu)
NM_005751.5(AKAP9):c.8662G>A (p.Glu2888Lys)
NM_005751.5(AKAP9):c.8695G>A (p.Glu2899Lys)
NM_005751.5(AKAP9):c.869A>C (p.Lys290Thr)
NM_005751.5(AKAP9):c.8716G>A (p.Gly2906Arg)
NM_005751.5(AKAP9):c.873AGA[1] (p.Glu292del) rs759956336
NM_005751.5(AKAP9):c.8755C>T (p.Gln2919Ter) rs1197135606
NM_005751.5(AKAP9):c.8762T>C (p.Phe2921Ser)
NM_005751.5(AKAP9):c.8767A>G (p.Ile2923Val)
NM_005751.5(AKAP9):c.8782C>T (p.Arg2928Ter) rs746403215
NM_005751.5(AKAP9):c.8794A>C (p.Ser2932Arg)
NM_005751.5(AKAP9):c.8800A>G (p.Ser2934Gly) rs1814251685
NM_005751.5(AKAP9):c.8807C>G (p.Thr2936Arg)
NM_005751.5(AKAP9):c.880T>A (p.Phe294Ile)
NM_005751.5(AKAP9):c.8812del (p.Ser2938fs) rs1563116259
NM_005751.5(AKAP9):c.8846C>T (p.Ala2949Val)
NM_005751.5(AKAP9):c.8852A>C (p.His2951Pro)
NM_005751.5(AKAP9):c.8872C>T (p.Leu2958Phe)
NM_005751.5(AKAP9):c.8925G>C (p.Gln2975His)
NM_005751.5(AKAP9):c.8929T>G (p.Ser2977Ala)
NM_005751.5(AKAP9):c.8949G>C (p.Glu2983Asp)
NM_005751.5(AKAP9):c.8957C>T (p.Ala2986Val) rs763275190
NM_005751.5(AKAP9):c.8965A>G (p.Asn2989Asp)
NM_005751.5(AKAP9):c.8966A>G (p.Asn2989Ser) rs2130875812
NM_005751.5(AKAP9):c.8981T>C (p.Leu2994Pro) rs2130875865
NM_005751.5(AKAP9):c.9013A>G (p.Arg3005Gly) rs1584490061
NM_005751.5(AKAP9):c.9017A>C (p.Glu3006Ala) rs1814426128
NM_005751.5(AKAP9):c.9020C>G (p.Ala3007Gly)
NM_005751.5(AKAP9):c.9022G>C (p.Glu3008Gln) rs190695638
NM_005751.5(AKAP9):c.905A>C (p.Gln302Pro)
NM_005751.5(AKAP9):c.9106G>A (p.Glu3036Lys) rs746297415
NM_005751.5(AKAP9):c.9109G>T (p.Glu3037Ter) rs1814554085
NM_005751.5(AKAP9):c.9117T>G (p.Ser3039Arg)
NM_005751.5(AKAP9):c.9125T>C (p.Leu3042Pro)
NM_005751.5(AKAP9):c.9149C>G (p.Thr3050Arg)
NM_005751.5(AKAP9):c.919G>C (p.Val307Leu) rs989895553
NM_005751.5(AKAP9):c.920T>C (p.Val307Ala) rs2130646748
NM_005751.5(AKAP9):c.9235A>G (p.Met3079Val)
NM_005751.5(AKAP9):c.9251A>G (p.Lys3084Arg)
NM_005751.5(AKAP9):c.9261_9263del (p.Arg3088del)
NM_005751.5(AKAP9):c.9267T>A (p.Ser3089Arg)
NM_005751.5(AKAP9):c.9268T>A (p.Leu3090Met) rs1488026046
NM_005751.5(AKAP9):c.9272del (p.Leu3091fs)
NM_005751.5(AKAP9):c.9274T>C (p.Ser3092Pro)
NM_005751.5(AKAP9):c.9293A>G (p.His3098Arg)
NM_005751.5(AKAP9):c.9305A>G (p.Asn3102Ser)
NM_005751.5(AKAP9):c.931-8del rs532128328
NM_005751.5(AKAP9):c.9335A>G (p.Gln3112Arg) rs999822458
NM_005751.5(AKAP9):c.9338dup (p.Ser3114fs) rs869025358
NM_005751.5(AKAP9):c.9352A>T (p.Ser3118Cys)
NM_005751.5(AKAP9):c.935A>G (p.Gln312Arg)
NM_005751.5(AKAP9):c.9374_9378del (p.Asn3125fs) rs2130891662
NM_005751.5(AKAP9):c.9376A>G (p.Ile3126Val) rs2130891688
NM_005751.5(AKAP9):c.9377T>C (p.Ile3126Thr)
NM_005751.5(AKAP9):c.9379C>T (p.Gln3127Ter) rs2130891706
NM_005751.5(AKAP9):c.938A>G (p.Asp313Gly)
NM_005751.5(AKAP9):c.9396_9397del (p.Gln3132fs)
NM_005751.5(AKAP9):c.9401T>C (p.Leu3134Pro)
NM_005751.5(AKAP9):c.9408_9409delinsAT (p.Met3136_Gln3137delinsIleTer)
NM_005751.5(AKAP9):c.9409C>A (p.Gln3137Lys)
NM_005751.5(AKAP9):c.9409C>G (p.Gln3137Glu)
NM_005751.5(AKAP9):c.9423C>A (p.Ser3141Arg)
NM_005751.5(AKAP9):c.9452A>C (p.Gln3151Pro)
NM_005751.5(AKAP9):c.9467C>G (p.Ser3156Cys)
NM_005751.5(AKAP9):c.9478G>A (p.Val3160Met)
NM_005751.5(AKAP9):c.9481G>T (p.Val3161Phe)
NM_005751.5(AKAP9):c.9555C>A (p.His3185Gln) rs1815955125
NM_005751.5(AKAP9):c.956C>T (p.Ser319Leu) rs1046115717
NM_005751.5(AKAP9):c.9578+4_9578+5del
NM_005751.5(AKAP9):c.9579-5C>G
NM_005751.5(AKAP9):c.9593A>G (p.Asp3198Gly)
NM_005751.5(AKAP9):c.9596A>G (p.Lys3199Arg)
NM_005751.5(AKAP9):c.9601G>A (p.Asp3201Asn)
NM_005751.5(AKAP9):c.9607G>C (p.Val3203Leu) rs1370864979
NM_005751.5(AKAP9):c.9616C>T (p.Leu3206Phe)
NM_005751.5(AKAP9):c.9652A>G (p.Arg3218Gly)
NM_005751.5(AKAP9):c.9656A>C (p.Glu3219Ala) rs1324778336
NM_005751.5(AKAP9):c.965A>C (p.Glu322Ala) rs2130662287
NM_005751.5(AKAP9):c.9673G>A (p.Glu3225Lys)
NM_005751.5(AKAP9):c.9698G>T (p.Arg3233Leu)
NM_005751.5(AKAP9):c.970A>T (p.Ile324Leu)
NM_005751.5(AKAP9):c.9729+1G>T rs1359935670
NM_005751.5(AKAP9):c.9729+4C>T
NM_005751.5(AKAP9):c.9729G>A (p.Glu3243=)
NM_005751.5(AKAP9):c.9750G>C (p.Glu3250Asp) rs1304374666
NM_005751.5(AKAP9):c.9830T>G (p.Ile3277Arg)
NM_005751.5(AKAP9):c.9831A>G (p.Ile3277Met)
NM_005751.5(AKAP9):c.9843A>C (p.Arg3281Ser)
NM_005751.5(AKAP9):c.9844A>T (p.Met3282Leu)
NM_005751.5(AKAP9):c.9860A>G (p.Gln3287Arg)
NM_005751.5(AKAP9):c.9862T>G (p.Leu3288Val)
NM_005751.5(AKAP9):c.9868G>A (p.Glu3290Lys)
NM_005751.5(AKAP9):c.9873A>T (p.Glu3291Asp)
NM_005751.5(AKAP9):c.9880C>A (p.Arg3294=)
NM_005751.5(AKAP9):c.9880C>G (p.Arg3294Gly) rs145355395
NM_005751.5(AKAP9):c.9880C>T (p.Arg3294Ter)
NM_005751.5(AKAP9):c.9910T>A (p.Ser3304Thr) rs2130900919
NM_005751.5(AKAP9):c.9926T>G (p.Ile3309Ser)
NM_005751.5(AKAP9):c.9928C>T (p.Arg3310Trp)
NM_005751.5(AKAP9):c.992T>C (p.Ile331Thr)
NM_005751.5(AKAP9):c.9947T>A (p.Leu3316Gln)
NM_005751.5(AKAP9):c.9952A>G (p.Arg3318Gly)
NM_005751.5(AKAP9):c.9958C>T (p.Arg3320Trp) rs2130901090
NM_005751.5(AKAP9):c.9959G>A (p.Arg3320Gln)
NM_005751.5(AKAP9):c.9969C>A (p.His3323Gln) rs566937987
NM_005751.5(AKAP9):c.9980A>G (p.Gln3327Arg)

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