ClinVar Miner

List of variants in gene KCNA1 studied for Episodic ataxia type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 505
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HGVS dbSNP gnomAD frequency
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_000217.3(KCNA1):c.*1681T>C rs7974459 0.49866
NM_000217.3(KCNA1):c.*406C>T rs4766311 0.48547
NM_000217.3(KCNA1):c.*3062T>C rs10849174 0.47680
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_000217.3(KCNA1):c.*1927A>T rs7974559 0.45881
NM_000217.3(KCNA1):c.*9G>A rs4766310 0.45248
NM_000217.3(KCNA1):c.*4439C>T rs12424292 0.21574
NM_000217.3(KCNA1):c.-110G>A rs35678382 0.12116
NM_000217.3(KCNA1):c.*2174C>T rs73050551 0.04497
NM_000217.3(KCNA1):c.*5141G>A rs41482147 0.04492
NM_000217.3(KCNA1):c.*1524A>G rs79357862 0.04290
NM_000217.3(KCNA1):c.-959C>T rs11831584 0.03555
NM_000217.3(KCNA1):c.-134G>T rs12817318 0.03550
NM_000217.3(KCNA1):c.-731C>G rs74058081 0.03186
NM_000217.3(KCNA1):c.*5145T>C rs11063406 0.02510
NM_000217.3(KCNA1):c.-839C>T rs12303537 0.01982
NM_000217.3(KCNA1):c.*4234A>G rs61907267 0.01618
NM_000217.3(KCNA1):c.*2308C>G rs114342545 0.01314
NM_000217.3(KCNA1):c.*3724C>T rs73050554 0.01288
NM_000217.3(KCNA1):c.*1522C>G rs140297443 0.01151
NM_000217.3(KCNA1):c.*228A>C rs142908193 0.00937
NM_000217.3(KCNA1):c.*2123A>G rs77647135 0.00881
NM_000217.3(KCNA1):c.*1892C>T rs146972463 0.00806
NM_000217.3(KCNA1):c.*2005G>A rs76783799 0.00798
NM_000217.3(KCNA1):c.*2080G>A rs147644839 0.00661
NM_000217.3(KCNA1):c.*1577A>T rs79432803 0.00657
NM_000217.3(KCNA1):c.*786G>A rs148607588 0.00564
NM_000217.3(KCNA1):c.*3840G>A rs148103166 0.00509
NM_000217.3(KCNA1):c.*127A>C rs116918891 0.00476
NM_000217.3(KCNA1):c.*4635G>C rs1045892 0.00438
NM_000217.3(KCNA1):c.*2245C>G rs76258625 0.00350
NM_000217.3(KCNA1):c.-428C>T rs7307690 0.00307
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) rs76066681 0.00299
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) rs149110871 0.00280
NM_000217.3(KCNA1):c.-1043C>T rs11831571 0.00257
NM_000217.3(KCNA1):c.*189G>A rs187069793 0.00226
NM_000217.3(KCNA1):c.*1469G>A rs536746031 0.00179
NM_000217.3(KCNA1):c.*2727C>T rs113371270 0.00178
NM_000217.3(KCNA1):c.*2121T>C rs188295490 0.00177
NM_000217.3(KCNA1):c.*4591T>G rs150901962 0.00170
NM_000217.3(KCNA1):c.*2596A>T rs188377239 0.00133
NM_000217.3(KCNA1):c.-638C>T rs574980784 0.00118
NM_000217.3(KCNA1):c.*2488T>C rs376503311 0.00113
NM_000217.3(KCNA1):c.-235C>A rs113587682 0.00086
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316 0.00078
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000 0.00063
NM_000217.3(KCNA1):c.*3588T>C rs535813845 0.00062
NM_000217.3(KCNA1):c.*4739C>T rs575527417 0.00053
NM_000217.3(KCNA1):c.*2848A>G rs562792530 0.00046
NM_000217.3(KCNA1):c.*1012A>T rs886049519 0.00040
NM_000217.3(KCNA1):c.393G>A (p.Arg131=) rs142184899 0.00039
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) rs144351014 0.00038
NM_000217.3(KCNA1):c.*4903C>G rs760686126 0.00032
NM_000217.3(KCNA1):c.*5209C>T rs189939908 0.00025
NM_000217.3(KCNA1):c.*947C>T rs557429239 0.00024
NM_000217.3(KCNA1):c.*2313C>T rs183989674 0.00022
NM_000217.3(KCNA1):c.*4663G>A rs186319441 0.00022
NM_000217.3(KCNA1):c.*486G>C rs764863360 0.00021
NM_000217.3(KCNA1):c.136C>A (p.Leu46Met) rs149959487 0.00021
NM_000217.3(KCNA1):c.*1308C>T rs575443810 0.00020
NM_000217.3(KCNA1):c.*592C>A rs144000949 0.00020
NM_000217.3(KCNA1):c.-420C>A rs1036896109 0.00020
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) rs201504073 0.00020
NM_000217.3(KCNA1):c.*4303A>T rs886049535 0.00016
NM_000217.3(KCNA1):c.*4422A>T rs923448860 0.00015
NM_000217.3(KCNA1):c.114C>T (p.Arg38=) rs146308797 0.00015
NM_000217.3(KCNA1):c.*1504G>A rs770664473 0.00013
NM_000217.3(KCNA1):c.*2554C>T rs768068963 0.00010
NM_000217.3(KCNA1):c.*5212C>T rs139521962 0.00010
NM_000217.3(KCNA1):c.*883T>G rs756451969 0.00010
NM_000217.3(KCNA1):c.*88G>A rs886049513 0.00010
NM_000217.3(KCNA1):c.*3862C>T rs746524947 0.00008
NM_000217.3(KCNA1):c.*2000C>T rs886049522 0.00006
NM_000217.3(KCNA1):c.*3142A>G rs923945668 0.00006
NM_000217.3(KCNA1):c.*3503C>T rs532649581 0.00006
NM_000217.3(KCNA1):c.*829A>G rs777685914 0.00006
NM_000217.3(KCNA1):c.315G>A (p.Pro105=) rs372742714 0.00006
NM_000217.3(KCNA1):c.342C>T (p.Ser114=) rs761389490 0.00006
NM_000217.3(KCNA1):c.1377G>A (p.Glu459=) rs913185562 0.00005
NM_000217.3(KCNA1):c.990C>A (p.Ile330=) rs149635751 0.00005
NM_000217.3(KCNA1):c.*1320C>A rs544323143 0.00004
NM_000217.3(KCNA1):c.*2104C>T rs901182494 0.00004
NM_000217.3(KCNA1):c.*2987G>A rs547570693 0.00004
NM_000217.3(KCNA1):c.*5274A>G rs886049541 0.00004
NM_000217.3(KCNA1):c.*965A>T rs886049518 0.00004
NM_000217.3(KCNA1):c.-849T>A rs1337171000 0.00004
NM_000217.3(KCNA1):c.1167C>A (p.Gly389=) rs775643582 0.00004
NM_000217.3(KCNA1):c.1320C>A (p.Asp440Glu) rs182735896 0.00004
NM_000217.3(KCNA1):c.1449A>T (p.Gln483His) rs372539672 0.00004
NM_000217.3(KCNA1):c.168G>T (p.Ala56=) rs145042702 0.00004
NM_000217.3(KCNA1):c.240C>T (p.Tyr80=) rs368673884 0.00004
NM_000217.3(KCNA1):c.645C>T (p.Asn215=) rs1020491546 0.00004
NM_000217.3(KCNA1):c.927T>G (p.Ser309=) rs748518926 0.00004
NM_000217.3(KCNA1):c.*2651C>T rs886049524 0.00003
NM_000217.3(KCNA1):c.*3200A>G rs886049527 0.00003
NM_000217.3(KCNA1):c.*4276C>T rs1023613770 0.00003
NM_000217.3(KCNA1):c.-433C>G rs888237919 0.00003
NM_000217.3(KCNA1):c.1026T>C (p.Ser342=) rs749888137 0.00003
NM_000217.3(KCNA1):c.1221T>C (p.Ile407=) rs138936640 0.00003
NM_000217.3(KCNA1):c.1353G>A (p.Lys451=) rs765269318 0.00003
NM_000217.3(KCNA1):c.1458T>C (p.Val486=) rs376380409 0.00003
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) rs147828649 0.00003
NM_000217.3(KCNA1):c.432G>C (p.Leu144=) rs368749626 0.00003
NM_000217.3(KCNA1):c.53A>C (p.His18Pro) rs367921276 0.00003
NM_000217.3(KCNA1):c.564G>T (p.Thr188=) rs747703770 0.00003
NM_000217.3(KCNA1):c.631A>G (p.Ile211Val) rs775789299 0.00003
NM_000217.3(KCNA1):c.641C>T (p.Ser214Phe) rs764561596 0.00003
NM_000217.3(KCNA1):c.*3268C>T rs886049528 0.00002
NM_000217.3(KCNA1):c.*4926G>A rs886049537 0.00002
NM_000217.3(KCNA1):c.*517T>C rs140164407 0.00002
NM_000217.3(KCNA1):c.*5191G>A rs575078827 0.00002
NM_000217.3(KCNA1):c.-636G>C rs886049503 0.00002
NM_000217.3(KCNA1):c.1047G>A (p.Ala349=) rs748570236 0.00002
NM_000217.3(KCNA1):c.1170C>G (p.Ser390=) rs760496447 0.00002
NM_000217.3(KCNA1):c.1192C>T (p.Leu398=) rs761868527 0.00002
NM_000217.3(KCNA1):c.179A>G (p.Asn60Ser) rs752067203 0.00002
NM_000217.3(KCNA1):c.294C>T (p.Ser98=) rs745642062 0.00002
NM_000217.3(KCNA1):c.399C>T (p.Asp133=) rs779252925 0.00002
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn) rs747465523 0.00002
NM_000217.3(KCNA1):c.667A>G (p.Ile223Val) rs146948558 0.00002
NM_000217.3(KCNA1):c.709G>A (p.Val237Met) rs1428881435 0.00002
NM_000217.3(KCNA1):c.888G>A (p.Leu296=) rs1315748120 0.00002
NM_000217.3(KCNA1):c.*1376T>C rs1303795570 0.00001
NM_000217.3(KCNA1):c.*2279G>A rs1196240577 0.00001
NM_000217.3(KCNA1):c.*234A>T rs886049514 0.00001
NM_000217.3(KCNA1):c.*3467C>T rs967253377 0.00001
NM_000217.3(KCNA1):c.*377T>C rs1947363733 0.00001
NM_000217.3(KCNA1):c.*4236C>T rs886049533 0.00001
NM_000217.3(KCNA1):c.*4289T>A rs886049534 0.00001
NM_000217.3(KCNA1):c.*4447A>G rs1421190880 0.00001
NM_000217.3(KCNA1):c.*4929G>T rs751650934 0.00001
NM_000217.3(KCNA1):c.*511A>G rs886049515 0.00001
NM_000217.3(KCNA1):c.*5190C>T rs913164685 0.00001
NM_000217.3(KCNA1):c.*5340G>C rs1947397293 0.00001
NM_000217.3(KCNA1):c.*724G>A rs886049516 0.00001
NM_000217.3(KCNA1):c.-909A>G rs1050577946 0.00001
NM_000217.3(KCNA1):c.-99C>T rs1367312353 0.00001
NM_000217.3(KCNA1):c.1015C>T (p.Leu339=) rs372832102 0.00001
NM_000217.3(KCNA1):c.1061C>T (p.Ser354Leu) rs1259861866 0.00001
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=) rs1264032724 0.00001
NM_000217.3(KCNA1):c.1146A>C (p.Thr382=) rs768750670 0.00001
NM_000217.3(KCNA1):c.1224G>A (p.Val408=) rs142055425 0.00001
NM_000217.3(KCNA1):c.1311T>G (p.Ser437=) rs1565433583 0.00001
NM_000217.3(KCNA1):c.1328G>A (p.Arg443His) rs139383685 0.00001
NM_000217.3(KCNA1):c.1338C>T (p.Ser446=) rs1251221470 0.00001
NM_000217.3(KCNA1):c.1346T>C (p.Met449Thr) rs1481224137 0.00001
NM_000217.3(KCNA1):c.1382T>C (p.Met461Thr) rs767068909 0.00001
NM_000217.3(KCNA1):c.1404T>C (p.Tyr468=) rs746310475 0.00001
NM_000217.3(KCNA1):c.1415A>G (p.Asn472Ser) rs150612442 0.00001
NM_000217.3(KCNA1):c.145G>C (p.Glu49Gln) rs1384353122 0.00001
NM_000217.3(KCNA1):c.1461T>C (p.Asn487=) rs199969874 0.00001
NM_000217.3(KCNA1):c.208A>G (p.Met70Val) rs1220977526 0.00001
NM_000217.3(KCNA1):c.224C>A (p.Pro75His) rs897263951 0.00001
NM_000217.3(KCNA1):c.267C>T (p.Phe89=) rs371963908 0.00001
NM_000217.3(KCNA1):c.289C>A (p.Gln97Lys) rs1166033590 0.00001
NM_000217.3(KCNA1):c.303C>T (p.Arg101=) rs886049509 0.00001
NM_000217.3(KCNA1):c.361G>A (p.Glu121Lys) rs1463513823 0.00001
NM_000217.3(KCNA1):c.387G>A (p.Lys129=) rs777644212 0.00001
NM_000217.3(KCNA1):c.396G>A (p.Glu132=) rs757607339 0.00001
NM_000217.3(KCNA1):c.404G>C (p.Gly135Ala) rs1947353268 0.00001
NM_000217.3(KCNA1):c.405C>T (p.Gly135=) rs547910421 0.00001
NM_000217.3(KCNA1):c.408C>T (p.Phe136=) rs372019704 0.00001
NM_000217.3(KCNA1):c.410T>C (p.Ile137Thr) rs780062452 0.00001
NM_000217.3(KCNA1):c.423G>A (p.Glu141=) rs1947353441 0.00001
NM_000217.3(KCNA1):c.435C>G (p.Pro145=) rs761301513 0.00001
NM_000217.3(KCNA1):c.445T>C (p.Tyr149His) rs767728993 0.00001
NM_000217.3(KCNA1):c.450G>A (p.Gln150=) rs753264870 0.00001
NM_000217.3(KCNA1):c.475T>C (p.Tyr159His) rs764645312 0.00001
NM_000217.3(KCNA1):c.483G>A (p.Glu161=) rs979309554 0.00001
NM_000217.3(KCNA1):c.49G>C (p.Gly17Arg) rs1324506346 0.00001
NM_000217.3(KCNA1):c.507C>T (p.Ile169=) rs1378300372 0.00001
NM_000217.3(KCNA1):c.516C>T (p.Val172=) rs1346046424 0.00001
NM_000217.3(KCNA1):c.596C>T (p.Thr199Met) rs1207573200 0.00001
NM_000217.3(KCNA1):c.600C>G (p.Gly200=) rs1242063851 0.00001
NM_000217.3(KCNA1):c.654A>T (p.Thr218=) rs571062972 0.00001
NM_000217.3(KCNA1):c.687C>T (p.Ile229=) rs754778573 0.00001
NM_000217.3(KCNA1):c.699C>T (p.Ser233=) rs1476899085 0.00001
NM_000217.3(KCNA1):c.732C>T (p.Pro244=) rs769026957 0.00001
NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp) rs373645838 0.00001
NM_000217.3(KCNA1):c.783C>T (p.Ala261=) rs765825652 0.00001
NM_000217.3(KCNA1):c.825G>T (p.Glu275Asp) rs1947356761 0.00001
NM_000217.3(KCNA1):c.867C>T (p.Ala289=) rs1591627806 0.00001
NM_000217.3(KCNA1):c.933C>A (p.Gly311=) rs138351123 0.00001
NM_000217.3(KCNA1):c.943C>T (p.Leu315=) rs71582857 0.00001
NM_000217.3(KCNA1):c.995T>C (p.Phe332Ser) rs752533303 0.00001
NC_000012.12:g.(?_4911359)_(4912886_?)dup
NM_000217.3(KCNA1):c.*1236T>G rs1232377701
NM_000217.3(KCNA1):c.*1832G>C rs1947373820
NM_000217.3(KCNA1):c.*1865C>G rs1947374009
NM_000217.3(KCNA1):c.*1977C>T rs1056300520
NM_000217.3(KCNA1):c.*2286A>C rs759796830
NM_000217.3(KCNA1):c.*2333G>A rs2109420
NM_000217.3(KCNA1):c.*2734G>A rs115244229
NM_000217.3(KCNA1):c.*2758G>A rs886049525
NM_000217.3(KCNA1):c.*3166G>C rs1947383909
NM_000217.3(KCNA1):c.*3176A>T rs181233186
NM_000217.3(KCNA1):c.*3225G>A rs777765225
NM_000217.3(KCNA1):c.*3225G>C rs777765225
NM_000217.3(KCNA1):c.*3316T>C rs886049529
NM_000217.3(KCNA1):c.*3495G>C rs886049530
NM_000217.3(KCNA1):c.*3728T>G rs1477699046
NM_000217.3(KCNA1):c.*4152A>G rs886049531
NM_000217.3(KCNA1):c.*4177C>T rs886049532
NM_000217.3(KCNA1):c.*4432T>C rs1947391540
NM_000217.3(KCNA1):c.*4477A>G rs191491257
NM_000217.3(KCNA1):c.*4718C>T rs886049536
NM_000217.3(KCNA1):c.*4957C>A rs549454829
NM_000217.3(KCNA1):c.*4972C>T rs1291672801
NM_000217.3(KCNA1):c.*5106C>G rs886049538
NM_000217.3(KCNA1):c.*5136A>G rs886049540
NM_000217.3(KCNA1):c.*5279C>T rs886049542
NM_000217.3(KCNA1):c.*804C>A rs886049517
NM_000217.3(KCNA1):c.-1034C>T rs886049499
NM_000217.3(KCNA1):c.-1040G>T rs886049498
NM_000217.3(KCNA1):c.-143C>T rs1161594342
NM_000217.3(KCNA1):c.-157T>A rs534276633
NM_000217.3(KCNA1):c.-196C>T rs1947348004
NM_000217.3(KCNA1):c.-230C>G rs886049507
NM_000217.3(KCNA1):c.-482G>C rs886049505
NM_000217.3(KCNA1):c.-487A>G rs886049504
NM_000217.3(KCNA1):c.-530A>G rs1947345310
NM_000217.3(KCNA1):c.-628C>G rs947561515
NM_000217.3(KCNA1):c.-684G>T rs886049502
NM_000217.3(KCNA1):c.-968C>T rs886049500
NM_000217.3(KCNA1):c.1003A>T (p.Ile335Phe)
NM_000217.3(KCNA1):c.1004T>A (p.Ile335Asn)
NM_000217.3(KCNA1):c.1005C>A (p.Ile335=)
NM_000217.3(KCNA1):c.1005C>T (p.Ile335=)
NM_000217.3(KCNA1):c.1008G>A (p.Gly336=)
NM_000217.3(KCNA1):c.1009G>A (p.Val337Ile)
NM_000217.3(KCNA1):c.101_102insCGTCCACGA (p.His33_Glu34insAspValHis) rs2137672775
NM_000217.3(KCNA1):c.1023T>C (p.Ser341=)
NM_000217.3(KCNA1):c.1034A>G (p.Tyr345Cys)
NM_000217.3(KCNA1):c.103T>C (p.Cys35Arg)
NM_000217.3(KCNA1):c.1041C>T (p.Ala347=) rs779820856
NM_000217.3(KCNA1):c.1046C>A (p.Ala349Glu) rs1361446640
NM_000217.3(KCNA1):c.1062G>A (p.Ser354=)
NM_000217.3(KCNA1):c.1080C>T (p.Pro360=) rs2079616481
NM_000217.3(KCNA1):c.1093T>C (p.Trp365Arg) rs2137673868
NM_000217.3(KCNA1):c.1102G>C (p.Val368Leu)
NM_000217.3(KCNA1):c.1107C>T (p.Ser369=)
NM_000217.3(KCNA1):c.1121G>C (p.Gly374Ala) rs2137673886
NM_000217.3(KCNA1):c.1122A>C (p.Gly374=) rs778171002
NM_000217.3(KCNA1):c.1126G>A (p.Gly376Ser) rs1555085786
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg) rs1555085786
NM_000217.3(KCNA1):c.1132A>G (p.Met378Val)
NM_000217.3(KCNA1):c.1137C>T (p.Tyr379=)
NM_000217.3(KCNA1):c.1141G>A (p.Val381Met)
NM_000217.3(KCNA1):c.1149T>C (p.Ile383=)
NM_000217.3(KCNA1):c.114C>A (p.Arg38=)
NM_000217.3(KCNA1):c.1150G>A (p.Gly384Arg) rs1947358468
NM_000217.3(KCNA1):c.1166G>A (p.Gly389Asp)
NM_000217.3(KCNA1):c.1182C>T (p.Ile394=)
NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser) rs1135401950
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val) rs2137673958
NM_000217.3(KCNA1):c.1201G>A (p.Ala401Thr) rs2137673966
NM_000217.3(KCNA1):c.1206G>C (p.Leu402=)
NM_000217.3(KCNA1):c.1207C>A (p.Pro403Thr) rs1591627924
NM_000217.3(KCNA1):c.1207C>T (p.Pro403Ser)
NM_000217.3(KCNA1):c.1209C>T (p.Pro403=) rs1475577782
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile) rs104894355
NM_000217.3(KCNA1):c.1213C>G (p.Pro405Ala) rs1947358808
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu) rs1555085798
NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala) rs104894352
NM_000217.3(KCNA1):c.1229A>C (p.Asn410Thr)
NM_000217.3(KCNA1):c.1248C>T (p.His416=)
NM_000217.3(KCNA1):c.1249C>A (p.Arg417=)
NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter) rs104894358
NM_000217.3(KCNA1):c.1258G>C (p.Glu420Gln)
NM_000217.3(KCNA1):c.1260G>A (p.Glu420=)
NM_000217.3(KCNA1):c.1260G>C (p.Glu420Asp)
NM_000217.3(KCNA1):c.1266A>C (p.Glu422Asp)
NM_000217.3(KCNA1):c.1275T>C (p.Ala425=)
NM_000217.3(KCNA1):c.1277A>G (p.Gln426Arg)
NM_000217.3(KCNA1):c.1287C>A (p.His429Gln)
NM_000217.3(KCNA1):c.1287C>G (p.His429Gln) rs756549028
NM_000217.3(KCNA1):c.1287C>T (p.His429=)
NM_000217.3(KCNA1):c.1288G>A (p.Val430Ile)
NM_000217.3(KCNA1):c.1288G>C (p.Val430Leu) rs749598869
NM_000217.3(KCNA1):c.1288G>T (p.Val430Phe)
NM_000217.3(KCNA1):c.1297C>T (p.Pro433Ser)
NM_000217.3(KCNA1):c.1298C>G (p.Pro433Arg) rs1392938918
NM_000217.3(KCNA1):c.1306G>C (p.Ala436Pro)
NM_000217.3(KCNA1):c.1325G>C (p.Ser442Thr) rs1947359738
NM_000217.3(KCNA1):c.1327C>T (p.Arg443Cys) rs150849316
NM_000217.3(KCNA1):c.1333A>G (p.Ser445Gly) rs768749436
NM_000217.3(KCNA1):c.1347G>A (p.Met449Ile)
NM_000217.3(KCNA1):c.1363A>G (p.Met455Val) rs1173585397
NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys) rs886049512
NM_000217.3(KCNA1):c.1366G>A (p.Glu456Lys)
NM_000217.3(KCNA1):c.1371C>A (p.Ile457=) rs751268531
NM_000217.3(KCNA1):c.1372G>T (p.Glu458Ter) rs1430522715
NM_000217.3(KCNA1):c.1378G>T (p.Asp460Tyr) rs754731331
NM_000217.3(KCNA1):c.1381A>G (p.Met461Val)
NM_000217.3(KCNA1):c.1383G>A (p.Met461Ile)
NM_000217.3(KCNA1):c.1393A>G (p.Ile465Val)
NM_000217.3(KCNA1):c.1395A>C (p.Ile465=)
NM_000217.3(KCNA1):c.1397C>A (p.Ala466Asp) rs1303950325
NM_000217.3(KCNA1):c.139C>A (p.Arg47Ser)
NM_000217.3(KCNA1):c.1400A>G (p.His467Arg) rs368829607
NM_000217.3(KCNA1):c.1401T>C (p.His467=) rs2137674240
NM_000217.3(KCNA1):c.140G>C (p.Arg47Pro)
NM_000217.3(KCNA1):c.1411G>T (p.Val471Phe)
NM_000217.3(KCNA1):c.1420A>C (p.Arg474=) rs139646303
NM_000217.3(KCNA1):c.1422A>C (p.Arg474Ser) rs2137674271
NM_000217.3(KCNA1):c.1425T>A (p.Thr475=) rs2137674276
NM_000217.3(KCNA1):c.1430A>G (p.Asn477Ser) rs1222837086
NM_000217.3(KCNA1):c.1431T>C (p.Asn477=) rs2137674292
NM_000217.3(KCNA1):c.1437C>T (p.Thr479=) rs2137674302
NM_000217.3(KCNA1):c.1438A>G (p.Thr480Ala)
NM_000217.3(KCNA1):c.1442C>T (p.Ala481Val) rs1430294104
NM_000217.3(KCNA1):c.144C>T (p.Phe48=) rs886042316
NM_000217.3(KCNA1):c.1453T>A (p.Cys485Ser) rs1470787858
NM_000217.3(KCNA1):c.1455C>A (p.Cys485Ter) rs1406153214
NM_000217.3(KCNA1):c.1455C>T (p.Cys485=)
NM_000217.3(KCNA1):c.1456G>A (p.Val486Ile) rs766403463
NM_000217.3(KCNA1):c.1456G>T (p.Val486Phe)
NM_000217.3(KCNA1):c.1477A>G (p.Thr493Ala) rs2137674354
NM_000217.3(KCNA1):c.152A>T (p.Gln51Leu)
NM_000217.3(KCNA1):c.159G>C (p.Lys53Asn) rs370288610
NM_000217.3(KCNA1):c.162C>T (p.Thr54=)
NM_000217.3(KCNA1):c.174C>T (p.Phe58=)
NM_000217.3(KCNA1):c.206G>C (p.Arg69Pro) rs2137672874
NM_000217.3(KCNA1):c.212G>A (p.Arg71His) rs1947351910
NM_000217.3(KCNA1):c.214T>C (p.Tyr72His) rs2137672886
NM_000217.3(KCNA1):c.220G>A (p.Asp74Asn)
NM_000217.3(KCNA1):c.220G>T (p.Asp74Tyr)
NM_000217.3(KCNA1):c.235G>T (p.Glu79Ter)
NM_000217.3(KCNA1):c.250C>G (p.Arg84Gly)
NM_000217.3(KCNA1):c.255C>T (p.Asn85=)
NM_000217.3(KCNA1):c.256C>A (p.Arg86=)
NM_000217.3(KCNA1):c.257G>C (p.Arg86Pro)
NM_000217.3(KCNA1):c.260C>G (p.Pro87Arg)
NM_000217.3(KCNA1):c.263G>A (p.Ser88Asn)
NM_000217.3(KCNA1):c.268G>A (p.Asp90Asn)
NM_000217.3(KCNA1):c.274A>G (p.Ile92Val) rs962399769
NM_000217.3(KCNA1):c.279C>T (p.Leu93=) rs2137672949
NM_000217.3(KCNA1):c.295G>A (p.Gly99Ser)
NM_000217.3(KCNA1):c.297C>A (p.Gly99=)
NM_000217.3(KCNA1):c.297C>G (p.Gly99=)
NM_000217.3(KCNA1):c.297C>T (p.Gly99=) rs772182513
NM_000217.3(KCNA1):c.312G>T (p.Arg104Ser) rs1947352517
NM_000217.3(KCNA1):c.316G>A (p.Val106Ile) rs2137672979
NM_000217.3(KCNA1):c.317T>C (p.Val106Ala) rs886049510
NM_000217.3(KCNA1):c.321C>T (p.Asn107=) rs1025376971
NM_000217.3(KCNA1):c.322G>C (p.Val108Leu)
NM_000217.3(KCNA1):c.324G>A (p.Val108=) rs760261969
NM_000217.3(KCNA1):c.325C>T (p.Pro109Ser)
NM_000217.3(KCNA1):c.337T>A (p.Phe113Ile) rs2137673007
NM_000217.3(KCNA1):c.340T>A (p.Ser114Thr)
NM_000217.3(KCNA1):c.341C>T (p.Ser114Phe) rs1591627522
NM_000217.3(KCNA1):c.351C>T (p.Ile117=) rs751980892
NM_000217.3(KCNA1):c.352A>G (p.Lys118Glu)
NM_000217.3(KCNA1):c.353A>G (p.Lys118Arg)
NM_000217.3(KCNA1):c.354G>A (p.Lys118=)
NM_000217.3(KCNA1):c.360C>T (p.Tyr120=)
NM_000217.3(KCNA1):c.370G>A (p.Glu124Lys) rs1555085687
NM_000217.3(KCNA1):c.378C>T (p.Ala126=)
NM_000217.3(KCNA1):c.380T>C (p.Met127Thr) rs2137673060
NM_000217.3(KCNA1):c.383A>G (p.Glu128Gly)
NM_000217.3(KCNA1):c.401A>G (p.Glu134Gly)
NM_000217.3(KCNA1):c.409A>G (p.Ile137Val)
NM_000217.3(KCNA1):c.412A>C (p.Lys138Gln) rs886049511
NM_000217.3(KCNA1):c.420G>A (p.Glu140=)
NM_000217.3(KCNA1):c.421G>A (p.Glu141Lys) rs934102011
NM_000217.3(KCNA1):c.424C>A (p.Arg142Ser) rs1947353456
NM_000217.3(KCNA1):c.427C>T (p.Pro143Ser)
NM_000217.3(KCNA1):c.430C>G (p.Leu144Val)
NM_000217.3(KCNA1):c.430C>T (p.Leu144=)
NM_000217.3(KCNA1):c.435C>A (p.Pro145=) rs761301513
NM_000217.3(KCNA1):c.435C>T (p.Pro145=) rs761301513
NM_000217.3(KCNA1):c.436G>C (p.Glu146Gln)
NM_000217.3(KCNA1):c.436G>T (p.Glu146Ter)
NM_000217.3(KCNA1):c.438G>A (p.Glu146=)
NM_000217.3(KCNA1):c.446A>G (p.Tyr149Cys) rs1947353699
NM_000217.3(KCNA1):c.447C>A (p.Tyr149Ter)
NM_000217.3(KCNA1):c.451C>T (p.Arg151Cys) rs1947353744
NM_000217.3(KCNA1):c.457G>T (p.Val153Leu)
NM_000217.3(KCNA1):c.458T>C (p.Val153Ala)
NM_000217.3(KCNA1):c.460T>G (p.Trp154Gly)
NM_000217.3(KCNA1):c.463C>T (p.Leu155=)
NM_000217.3(KCNA1):c.468C>T (p.Leu156=) rs1055080837
NM_000217.3(KCNA1):c.471_472insTCC (p.Phe157_Glu158insSer)
NM_000217.3(KCNA1):c.480C>A (p.Pro160=) rs1487509683
NM_000217.3(KCNA1):c.480C>T (p.Pro160=)
NM_000217.3(KCNA1):c.481G>A (p.Glu161Lys)
NM_000217.3(KCNA1):c.489G>A (p.Ser163=) rs1947354000
NM_000217.3(KCNA1):c.495C>T (p.Pro165=) rs2137673220
NM_000217.3(KCNA1):c.496G>A (p.Ala166Thr) rs1179635654
NM_000217.3(KCNA1):c.502G>A (p.Val168Ile)
NM_000217.3(KCNA1):c.504C>T (p.Val168=)
NM_000217.3(KCNA1):c.510C>T (p.Ala170=)
NM_000217.3(KCNA1):c.511A>G (p.Ile171Val)
NM_000217.3(KCNA1):c.520G>A (p.Val174Ile) rs104894349
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe) rs104894349
NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn) rs267607195
NM_000217.3(KCNA1):c.551T>G (p.Phe184Cys) rs104894357
NM_000217.3(KCNA1):c.558G>A (p.Leu186=)
NM_000217.3(KCNA1):c.559G>A (p.Glu187Lys) rs1565433190
NM_000217.3(KCNA1):c.559G>C (p.Glu187Gln)
NM_000217.3(KCNA1):c.570C>T (p.Pro190=) rs769242869
NM_000217.3(KCNA1):c.577A>G (p.Lys193Glu)
NM_000217.3(KCNA1):c.582T>C (p.Asp194=)
NM_000217.3(KCNA1):c.585C>G (p.Asp195Glu) rs1947354740
NM_000217.3(KCNA1):c.58C>A (p.Gln20Lys)
NM_000217.3(KCNA1):c.594C>T (p.Phe198=)
NM_000217.3(KCNA1):c.598G>C (p.Gly200Arg)
NM_000217.3(KCNA1):c.599G>C (p.Gly200Ala) rs1411072418
NM_000217.3(KCNA1):c.59A>G (p.Gln20Arg)
NM_000217.3(KCNA1):c.603C>G (p.Thr201=) rs935997498
NM_000217.3(KCNA1):c.607C>T (p.His203Tyr)
NM_000217.3(KCNA1):c.608A>G (p.His203Arg)
NM_000217.3(KCNA1):c.609C>T (p.His203=)
NM_000217.3(KCNA1):c.60G>A (p.Gln20=)
NM_000217.3(KCNA1):c.615C>T (p.Ile205=)
NM_000217.3(KCNA1):c.61G>T (p.Asp21Tyr)
NM_000217.3(KCNA1):c.621CAC[1] (p.Thr209del) rs1555085716
NM_000217.3(KCNA1):c.635A>G (p.Tyr212Cys) rs2137673409
NM_000217.3(KCNA1):c.644A>G (p.Asn215Ser)
NM_000217.3(KCNA1):c.644A>T (p.Asn215Ile) rs762016621
NM_000217.3(KCNA1):c.653C>G (p.Thr218Arg) rs1280516411
NM_000217.3(KCNA1):c.657C>A (p.Asp219Glu)
NM_000217.3(KCNA1):c.666C>T (p.Phe222=)
NM_000217.3(KCNA1):c.669C>T (p.Ile223=)
NM_000217.3(KCNA1):c.670G>T (p.Val224Leu) rs1947355480
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) rs104894354
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) rs28933383
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met) rs28933383
NM_000217.3(KCNA1):c.690C>A (p.Ile230=)
NM_000217.3(KCNA1):c.702C>A (p.Phe234Leu) rs755621934
NM_000217.3(KCNA1):c.702C>T (p.Phe234=) rs755621934
NM_000217.3(KCNA1):c.70T>C (p.Tyr24His) rs1224258529
NM_000217.3(KCNA1):c.715C>A (p.Arg239Ser) rs104894348
NM_000217.3(KCNA1):c.724G>T (p.Ala242Ser)
NM_000217.3(KCNA1):c.727T>G (p.Cys243Gly)
NM_000217.3(KCNA1):c.740C>T (p.Thr247Met)
NM_000217.3(KCNA1):c.741G>T (p.Thr247=)
NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile) rs104894356
NM_000217.3(KCNA1):c.745T>C (p.Phe249Leu)
NM_000217.3(KCNA1):c.74C>T (p.Pro25Leu)
NM_000217.3(KCNA1):c.755A>G (p.Asn252Ser)
NM_000217.3(KCNA1):c.755A>T (p.Asn252Ile)
NM_000217.3(KCNA1):c.756C>T (p.Asn252=)
NM_000217.3(KCNA1):c.757A>G (p.Ile253Val) rs1947356316
NM_000217.3(KCNA1):c.757A>T (p.Ile253Phe) rs1947356316
NM_000217.3(KCNA1):c.762dup (p.Asn255fs)
NM_000217.3(KCNA1):c.767T>A (p.Phe256Tyr)
NM_000217.3(KCNA1):c.767T>G (p.Phe256Cys)
NM_000217.3(KCNA1):c.771A>T (p.Ile257=)
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr) rs2137673584
NM_000217.3(KCNA1):c.793T>C (p.Tyr265His)
NM_000217.3(KCNA1):c.794A>G (p.Tyr265Cys) rs1947356506
NM_000217.3(KCNA1):c.799A>G (p.Ile267Val)
NM_000217.3(KCNA1):c.804G>T (p.Thr268=) rs2227910
NM_000217.3(KCNA1):c.807G>A (p.Leu269=)
NM_000217.3(KCNA1):c.813C>T (p.Thr271=)
NM_000217.3(KCNA1):c.827A>G (p.Gln276Arg)
NM_000217.3(KCNA1):c.846C>T (p.Gly282=) rs971854626
NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys) rs2137673633
NM_000217.3(KCNA1):c.849G>A (p.Glu283=) rs777660284
NM_000217.3(KCNA1):c.84C>A (p.Ala28=) rs748174897
NM_000217.3(KCNA1):c.84C>G (p.Ala28=)
NM_000217.3(KCNA1):c.84C>T (p.Ala28=)
NM_000217.3(KCNA1):c.850C>T (p.Gln284Ter) rs2137673640
NM_000217.3(KCNA1):c.858C>T (p.Thr286=) rs2137673650
NM_000217.3(KCNA1):c.861C>T (p.Ser287=)
NM_000217.3(KCNA1):c.863T>A (p.Leu288Gln)
NM_000217.3(KCNA1):c.868_872delinsTC (p.Ile290_Leu291delinsSer) rs1555085756
NM_000217.3(KCNA1):c.872T>C (p.Leu291Pro) rs1064796844
NM_000217.3(KCNA1):c.87C>T (p.Asp29=)
NM_000217.3(KCNA1):c.881_882delinsAT (p.Ile294Asn)
NM_000217.3(KCNA1):c.882C>T (p.Ile294=)
NM_000217.3(KCNA1):c.884G>A (p.Arg295His) rs778463081
NM_000217.3(KCNA1):c.888G>C (p.Leu296Phe) rs1315748120
NM_000217.3(KCNA1):c.888G>T (p.Leu296Phe) rs1315748120
NM_000217.3(KCNA1):c.894G>C (p.Arg298Ser)
NM_000217.3(KCNA1):c.909C>T (p.Phe303=) rs987257873
NM_000217.3(KCNA1):c.911A>G (p.Lys304Arg)
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) rs1555085761
NM_000217.3(KCNA1):c.917C>G (p.Ser306Cys) rs1947357313
NM_000217.3(KCNA1):c.917C>T (p.Ser306Phe)
NM_000217.3(KCNA1):c.924C>T (p.His308=)
NM_000217.3(KCNA1):c.928A>G (p.Lys310Glu) rs2137673741
NM_000217.3(KCNA1):c.931G>T (p.Gly311Cys) rs1947357459
NM_000217.3(KCNA1):c.933C>G (p.Gly311=) rs138351123
NM_000217.3(KCNA1):c.934C>A (p.Leu312Ile) rs1947357501
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020
NM_000217.3(KCNA1):c.948C>T (p.Gly316=)
NM_000217.3(KCNA1):c.953C>T (p.Thr318Ile)
NM_000217.3(KCNA1):c.964A>C (p.Ser322Arg) rs1565433425
NM_000217.3(KCNA1):c.966T>A (p.Ser322Arg)
NM_000217.3(KCNA1):c.973G>A (p.Glu325Lys)
NM_000217.3(KCNA1):c.974A>G (p.Glu325Gly)
NM_000217.3(KCNA1):c.975G>C (p.Glu325Asp) rs104894353
NM_000217.3(KCNA1):c.97C>T (p.His33Tyr) rs1947351157
NM_000217.3(KCNA1):c.984G>T (p.Leu328=)
NM_000217.3(KCNA1):c.985C>A (p.Leu329Ile)
NM_000217.3(KCNA1):c.985C>T (p.Leu329Phe)
NM_000217.3(KCNA1):c.991T>A (p.Phe331Ile) rs2137673787
NM_000217.3(KCNA1):c.992T>G (p.Phe331Cys) rs1947357713
NM_000217.3(KCNA1):c.999C>A (p.Leu333=)
NM_000217.3(KCNA1):c.999C>T (p.Leu333=) rs1194637280
NM_000217.3(KCNA1):c.99C>T (p.His33=)

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