ClinVar Miner

List of variants reported as likely benign for Generalized epilepsy-paroxysmal dyskinesia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 534
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001161352.2(KCNMA1):c.1928+16C>A rs202235932 0.00053
NM_001161352.2(KCNMA1):c.3147+15T>C rs145048715 0.00053
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540 0.00045
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297 0.00044
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374 0.00041
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577 0.00033
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047 0.00031
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272 0.00030
NM_001161352.2(KCNMA1):c.1441-11C>T rs79390996 0.00028
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) rs76141718 0.00026
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590 0.00021
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln) rs80266334 0.00019
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271 0.00019
NM_001161352.2(KCNMA1):c.3087G>A (p.Thr1029=) rs200151850 0.00019
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) rs143562140 0.00018
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262 0.00017
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000 0.00011
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) rs113441525 0.00011
NM_001161352.2(KCNMA1):c.363C>T (p.Cys121=) rs141758134 0.00011
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948 0.00010
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=) rs201400928 0.00009
NM_001161352.2(KCNMA1):c.1523+14C>T rs200327924 0.00009
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790 0.00009
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) rs200741233 0.00009
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183 0.00009
NM_001161352.2(KCNMA1):c.3021C>T (p.Asn1007=) rs369363787 0.00008
NM_001161352.2(KCNMA1):c.603-5A>G rs907422214 0.00008
NM_001161352.2(KCNMA1):c.3343-17C>A rs199571730 0.00007
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) rs201721843 0.00007
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=) rs201924445 0.00007
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=) rs755284666 0.00006
NM_001161352.2(KCNMA1):c.1224-8C>T rs777700626 0.00006
NM_001161352.2(KCNMA1):c.2469A>C (p.Ile823=) rs111630810 0.00006
NM_001161352.2(KCNMA1):c.2508C>T (p.Thr836=) rs145100005 0.00006
NM_001161352.2(KCNMA1):c.2589G>A (p.Pro863=) rs142004793 0.00006
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) rs2227913 0.00006
NM_001161352.2(KCNMA1):c.3342+16C>T rs201689450 0.00006
NM_001161352.2(KCNMA1):c.3547G>A (p.Gly1183Ser) rs549360933 0.00006
NM_001161352.2(KCNMA1):c.1917C>T (p.Asn639=) rs757149091 0.00005
NM_001161352.2(KCNMA1):c.2688C>T (p.Phe896=) rs1031042677 0.00005
NM_001161352.2(KCNMA1):c.468C>T (p.Val156=) rs140636629 0.00005
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397 0.00004
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) rs139515379 0.00004
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113 0.00004
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=) rs760119167 0.00004
NM_001161352.2(KCNMA1):c.1523+15G>A rs201896013 0.00004
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619 0.00004
NM_001161352.2(KCNMA1):c.1593+19G>A rs770715910 0.00004
NM_001161352.2(KCNMA1):c.2015+18A>G rs200136190 0.00004
NM_001161352.2(KCNMA1):c.2360+11G>C rs199815456 0.00004
NM_001161352.2(KCNMA1):c.2427C>T (p.Tyr809=) rs202085429 0.00004
NM_001161352.2(KCNMA1):c.2544C>T (p.Gly848=) rs139475681 0.00004
NM_001161352.2(KCNMA1):c.3017-5T>C rs202032522 0.00004
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=) rs200321180 0.00004
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln) rs75843969 0.00004
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=) rs201765039 0.00004
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241 0.00004
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=) rs145604644 0.00004
NM_001161352.2(KCNMA1):c.825A>G (p.Arg275=) rs776877666 0.00004
NM_001161352.2(KCNMA1):c.1122C>T (p.Leu374=) rs781404437 0.00003
NM_001161352.2(KCNMA1):c.1334+8C>A rs775637689 0.00003
NM_001161352.2(KCNMA1):c.1485C>T (p.Cys495=) rs200500216 0.00003
NM_001161352.2(KCNMA1):c.1788A>G (p.Gly596=) rs527331588 0.00003
NM_001161352.2(KCNMA1):c.1842C>T (p.Ser614=) rs559607000 0.00003
NM_001161352.2(KCNMA1):c.2277G>A (p.Glu759=) rs759846411 0.00003
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=) rs767100016 0.00003
NM_001161352.2(KCNMA1):c.2496A>G (p.Glu832=) rs778588355 0.00003
NM_001161352.2(KCNMA1):c.2499T>C (p.Ala833=) rs771436196 0.00003
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843 0.00003
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg) rs200714367 0.00003
NM_001161352.2(KCNMA1):c.2811G>A (p.Ser937=) rs199970585 0.00003
NM_001161352.2(KCNMA1):c.2877C>T (p.Ile959=) rs200108144 0.00003
NM_001161352.2(KCNMA1):c.2994C>T (p.Asn998=) rs991345002 0.00003
NM_001161352.2(KCNMA1):c.3016+13G>A rs200435538 0.00003
NM_001161352.2(KCNMA1):c.3072A>G (p.Thr1024=) rs774352020 0.00003
NM_001161352.2(KCNMA1):c.312C>T (p.Ile104=) rs775752274 0.00003
NM_001161352.2(KCNMA1):c.321C>T (p.Leu107=) rs1019009470 0.00003
NM_001161352.2(KCNMA1):c.3357T>C (p.Tyr1119=) rs1457371491 0.00003
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757 0.00003
NM_001161352.2(KCNMA1):c.541-12C>T rs199691703 0.00003
NM_001161352.2(KCNMA1):c.762G>A (p.Thr254=) rs201814722 0.00003
NM_001161352.2(KCNMA1):c.1224-4T>A rs200167721 0.00002
NM_001161352.2(KCNMA1):c.1386G>A (p.Gln462=) rs778546494 0.00002
NM_001161352.2(KCNMA1):c.1431A>G (p.Ala477=) rs761129178 0.00002
NM_001161352.2(KCNMA1):c.1523+19C>T rs200962787 0.00002
NM_001161352.2(KCNMA1):c.1551G>A (p.Pro517=) rs200146500 0.00002
NM_001161352.2(KCNMA1):c.1653C>T (p.Leu551=) rs768361935 0.00002
NM_001161352.2(KCNMA1):c.1666T>C (p.Leu556=) rs747382420 0.00002
NM_001161352.2(KCNMA1):c.1750-6C>T rs1475541628 0.00002
NM_001161352.2(KCNMA1):c.1928+10C>T rs200921631 0.00002
NM_001161352.2(KCNMA1):c.2664G>A (p.Arg888=) rs1430010589 0.00002
NM_001161352.2(KCNMA1):c.2715G>A (p.Thr905=) rs977509447 0.00002
NM_001161352.2(KCNMA1):c.2748C>T (p.Asn916=) rs766016095 0.00002
NM_001161352.2(KCNMA1):c.2916A>G (p.Pro972=) rs370156084 0.00002
NM_001161352.2(KCNMA1):c.2955C>T (p.His985=) rs373428657 0.00002
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=) rs766964098 0.00002
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) rs779632278 0.00002
NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=) rs756169265 0.00002
NM_001161352.2(KCNMA1):c.3342+17G>A rs200698450 0.00002
NM_001161352.2(KCNMA1):c.3546C>T (p.Ala1182=) rs200763661 0.00002
NM_001161352.2(KCNMA1):c.379-17G>A rs758487253 0.00002
NM_001161352.2(KCNMA1):c.697-4C>T rs200844223 0.00002
NM_001161352.2(KCNMA1):c.884+8G>A rs777197385 0.00002
NM_001161352.2(KCNMA1):c.1014C>T (p.Thr338=) rs746250658 0.00001
NM_001161352.2(KCNMA1):c.1132-10A>G rs771169491 0.00001
NM_001161352.2(KCNMA1):c.1132-20T>C rs200570099 0.00001
NM_001161352.2(KCNMA1):c.1132-5C>A rs1157563615 0.00001
NM_001161352.2(KCNMA1):c.1206T>C (p.Ser402=) rs748229567 0.00001
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145 0.00001
NM_001161352.2(KCNMA1):c.1224-6G>A rs370838557 0.00001
NM_001161352.2(KCNMA1):c.1224-9C>T rs749164088 0.00001
NM_001161352.2(KCNMA1):c.12T>C (p.Gly4=) rs949160991 0.00001
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) rs201999021 0.00001
NM_001161352.2(KCNMA1):c.1332C>T (p.His444=) rs202124080 0.00001
NM_001161352.2(KCNMA1):c.1334+11C>T rs201807674 0.00001
NM_001161352.2(KCNMA1):c.1334+20G>T rs2096785218 0.00001
NM_001161352.2(KCNMA1):c.1335-11T>C rs201660936 0.00001
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=) rs903717178 0.00001
NM_001161352.2(KCNMA1):c.1523+9T>G rs539064392 0.00001
NM_001161352.2(KCNMA1):c.1594-6C>A rs1373150494 0.00001
NM_001161352.2(KCNMA1):c.15C>T (p.Gly5=) rs1273640267 0.00001
NM_001161352.2(KCNMA1):c.1623T>C (p.Asn541=) rs762789995 0.00001
NM_001161352.2(KCNMA1):c.1749+12T>A rs1426310372 0.00001
NM_001161352.2(KCNMA1):c.1749+16A>G rs1172012103 0.00001
NM_001161352.2(KCNMA1):c.1764A>G (p.Thr588=) rs145660886 0.00001
NM_001161352.2(KCNMA1):c.1827C>A (p.Ala609=) rs1391592797 0.00001
NM_001161352.2(KCNMA1):c.1860-4G>T rs763267420 0.00001
NM_001161352.2(KCNMA1):c.1885C>T (p.Leu629=) rs369724043 0.00001
NM_001161352.2(KCNMA1):c.18C>T (p.Gly6=) rs769978136 0.00001
NM_001161352.2(KCNMA1):c.1929-18T>C rs772923904 0.00001
NM_001161352.2(KCNMA1):c.1950C>T (p.Asn650=) rs1241233284 0.00001
NM_001161352.2(KCNMA1):c.2092+9T>C rs759090342 0.00001
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) rs544095112 0.00001
NM_001161352.2(KCNMA1):c.2313G>A (p.Arg771=) rs566306042 0.00001
NM_001161352.2(KCNMA1):c.2353C>T (p.Leu785=) rs140324782 0.00001
NM_001161352.2(KCNMA1):c.2361-19C>G rs868429807 0.00001
NM_001161352.2(KCNMA1):c.2436T>C (p.Thr812=) rs779629574 0.00001
NM_001161352.2(KCNMA1):c.2484+9G>C rs767569709 0.00001
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) rs200166976 0.00001
NM_001161352.2(KCNMA1):c.2577C>T (p.Asn859=) rs770702438 0.00001
NM_001161352.2(KCNMA1):c.2595T>C (p.Arg865=) rs770461329 0.00001
NM_001161352.2(KCNMA1):c.2619G>A (p.Glu873=) rs200633881 0.00001
NM_001161352.2(KCNMA1):c.2676G>A (p.Thr892=) rs143184179 0.00001
NM_001161352.2(KCNMA1):c.270C>T (p.Phe90=) rs138473123 0.00001
NM_001161352.2(KCNMA1):c.2710-16T>C rs779059391 0.00001
NM_001161352.2(KCNMA1):c.2769C>T (p.Cys923=) rs200241954 0.00001
NM_001161352.2(KCNMA1):c.2778G>A (p.Leu926=) rs2063503077 0.00001
NM_001161352.2(KCNMA1):c.2847C>T (p.Asn949=) rs745890036 0.00001
NM_001161352.2(KCNMA1):c.288G>T (p.Val96=) rs1256365697 0.00001
NM_001161352.2(KCNMA1):c.2902+8C>T rs969238084 0.00001
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=) rs751861895 0.00001
NM_001161352.2(KCNMA1):c.3147+10C>T rs777007748 0.00001
NM_001161352.2(KCNMA1):c.3147+14T>C rs764346358 0.00001
NM_001161352.2(KCNMA1):c.3148-6C>T rs201087232 0.00001
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=) rs1298795044 0.00001
NM_001161352.2(KCNMA1):c.3210G>A (p.Pro1070=) rs752923387 0.00001
NM_001161352.2(KCNMA1):c.3258C>T (p.Tyr1086=) rs1322664718 0.00001
NM_001161352.2(KCNMA1):c.3297C>T (p.Arg1099=) rs372103668 0.00001
NM_001161352.2(KCNMA1):c.3324G>A (p.Gly1108=) rs754021758 0.00001
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097 0.00001
NM_001161352.2(KCNMA1):c.3342+10C>T rs752873857 0.00001
NM_001161352.2(KCNMA1):c.3363T>C (p.Asp1121=) rs1366149002 0.00001
NM_001161352.2(KCNMA1):c.3426T>C (p.Asp1142=) rs755202928 0.00001
NM_001161352.2(KCNMA1):c.3444C>T (p.Pro1148=) rs147778573 0.00001
NM_001161352.2(KCNMA1):c.348C>G (p.Thr116=) rs200178895 0.00001
NM_001161352.2(KCNMA1):c.3504G>A (p.Pro1168=) rs200945011 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=) rs1445232499 0.00001
NM_001161352.2(KCNMA1):c.366G>A (p.Gly122=) rs1263159961 0.00001
NM_001161352.2(KCNMA1):c.3681A>G (p.Lys1227=) rs150023686 0.00001
NM_001161352.2(KCNMA1):c.375G>A (p.Thr125=) rs1349036007 0.00001
NM_001161352.2(KCNMA1):c.378+7C>T rs754351803 0.00001
NM_001161352.2(KCNMA1):c.39C>T (p.Gly13=) rs1568036429 0.00001
NM_001161352.2(KCNMA1):c.405A>G (p.Ser135=) rs759140697 0.00001
NM_001161352.2(KCNMA1):c.459C>T (p.Ala153=) rs779927857 0.00001
NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=) rs200015007 0.00001
NM_001161352.2(KCNMA1):c.513C>T (p.Ser171=) rs200815735 0.00001
NM_001161352.2(KCNMA1):c.567C>T (p.Ile189=) rs146483703 0.00001
NM_001161352.2(KCNMA1):c.602+12A>G rs199818612 0.00001
NM_001161352.2(KCNMA1):c.603-15C>T rs775868905 0.00001
NM_001161352.2(KCNMA1):c.642A>G (p.Thr214=) rs749560545 0.00001
NM_001161352.2(KCNMA1):c.651C>T (p.Ile217=) rs200356374 0.00001
NM_001161352.2(KCNMA1):c.666C>T (p.Asn222=) rs746791489 0.00001
NM_001161352.2(KCNMA1):c.694C>A (p.Arg232=) rs1270998019 0.00001
NM_001161352.2(KCNMA1):c.696+15C>T rs1218411521 0.00001
NM_001161352.2(KCNMA1):c.70A>C (p.Arg24=) rs1350886458 0.00001
NM_001161352.2(KCNMA1):c.717A>G (p.Lys239=) rs769909435 0.00001
NM_001161352.2(KCNMA1):c.72A>G (p.Arg24=) rs1485176204 0.00001
NM_001161352.2(KCNMA1):c.732G>A (p.Leu244=) rs200178732 0.00001
NM_001161352.2(KCNMA1):c.808+8A>G rs1467269864 0.00001
NM_001161352.2(KCNMA1):c.809-11C>A rs1168248125 0.00001
NM_001161352.2(KCNMA1):c.861G>A (p.Gln287=) rs770925732 0.00001
NM_001161352.2(KCNMA1):c.884+14C>T rs201121820 0.00001
NM_001161352.2(KCNMA1):c.884+18A>G rs924962336 0.00001
NM_001161352.2(KCNMA1):c.930G>A (p.Thr310=) rs1486636115 0.00001
NM_001161352.2(KCNMA1):c.1044C>A (p.Val348=)
NM_001161352.2(KCNMA1):c.1044C>T (p.Val348=)
NM_001161352.2(KCNMA1):c.105C>T (p.Ser35=)
NM_001161352.2(KCNMA1):c.1077T>C (p.Tyr359=)
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=) rs1564595933
NM_001161352.2(KCNMA1):c.1089A>C (p.Thr363=)
NM_001161352.2(KCNMA1):c.111C>T (p.Asp37=)
NM_001161352.2(KCNMA1):c.1131+11A>G
NM_001161352.2(KCNMA1):c.1131+15T>G
NM_001161352.2(KCNMA1):c.1131+20A>G
NM_001161352.2(KCNMA1):c.1134C>T (p.Ala378=)
NM_001161352.2(KCNMA1):c.1149C>T (p.Tyr383=)
NM_001161352.2(KCNMA1):c.114G>A (p.Ala38=)
NM_001161352.2(KCNMA1):c.1161C>A (p.Ile387=)
NM_001161352.2(KCNMA1):c.1161C>T (p.Ile387=)
NM_001161352.2(KCNMA1):c.117C>T (p.Ser39=) rs2154572156
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.1197C>T (p.Gly399=) rs2153860930
NM_001161352.2(KCNMA1):c.1223+17G>A rs753635312
NM_001161352.2(KCNMA1):c.1224-13C>G rs758586089
NM_001161352.2(KCNMA1):c.1224-14C>T
NM_001161352.2(KCNMA1):c.1224-15G>A
NM_001161352.2(KCNMA1):c.123C>T (p.Ser41=)
NM_001161352.2(KCNMA1):c.1245C>T (p.His415=)
NM_001161352.2(KCNMA1):c.1260T>C (p.Ser420=)
NM_001161352.2(KCNMA1):c.1266C>T (p.Ser422=)
NM_001161352.2(KCNMA1):c.1297C>A (p.Arg433=)
NM_001161352.2(KCNMA1):c.1311T>C (p.Asn437=) rs1182112018
NM_001161352.2(KCNMA1):c.1334+12C>G
NM_001161352.2(KCNMA1):c.1334+16T>A
NM_001161352.2(KCNMA1):c.1334+19T>C
NM_001161352.2(KCNMA1):c.1335-14C>G rs781038538
NM_001161352.2(KCNMA1):c.1335-6G>C
NM_001161352.2(KCNMA1):c.1335-8C>T
NM_001161352.2(KCNMA1):c.1341C>T (p.Ser447=)
NM_001161352.2(KCNMA1):c.1344C>T (p.Pro448=)
NM_001161352.2(KCNMA1):c.1353G>A (p.Glu451=) rs1595665771
NM_001161352.2(KCNMA1):c.135CTCTTC[1] (p.Ser59_Ser60del) rs770298470
NM_001161352.2(KCNMA1):c.1377T>C (p.His459=)
NM_001161352.2(KCNMA1):c.1404T>C (p.Gly468=)
NM_001161352.2(KCNMA1):c.1428T>A (p.Leu476=)
NM_001161352.2(KCNMA1):c.1440+16T>C
NM_001161352.2(KCNMA1):c.1441-15C>A rs78005259
NM_001161352.2(KCNMA1):c.1441-6T>C
NM_001161352.2(KCNMA1):c.1441-7G>A
NM_001161352.2(KCNMA1):c.1441-9G>A
NM_001161352.2(KCNMA1):c.1449A>G (p.Ser483=)
NM_001161352.2(KCNMA1):c.144TTC[2] (p.Ser59_Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1458A>G (p.Ala486=) rs2153752272
NM_001161352.2(KCNMA1):c.1461C>T (p.Cys487=)
NM_001161352.2(KCNMA1):c.1467C>A (p.Ile489=)
NM_001161352.2(KCNMA1):c.1470T>C (p.Leu490=) rs1341608381
NM_001161352.2(KCNMA1):c.1509C>T (p.Ala503=) rs1595618592
NM_001161352.2(KCNMA1):c.1512G>A (p.Ser504=)
NM_001161352.2(KCNMA1):c.1512G>C (p.Ser504=)
NM_001161352.2(KCNMA1):c.1523+12G>C
NM_001161352.2(KCNMA1):c.1523+17T>G
NM_001161352.2(KCNMA1):c.1523+20G>A
NM_001161352.2(KCNMA1):c.1523+7C>T rs2096653390
NM_001161352.2(KCNMA1):c.1524-16G>A
NM_001161352.2(KCNMA1):c.1524-19T>C rs1157653900
NM_001161352.2(KCNMA1):c.1524-20A>G
NM_001161352.2(KCNMA1):c.1527A>T (p.Val509=)
NM_001161352.2(KCNMA1):c.153T>C (p.Ser51=) rs200164685
NM_001161352.2(KCNMA1):c.156C>T (p.Ser52=)
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del) rs778736171
NM_001161352.2(KCNMA1):c.1593+10C>T rs200770082
NM_001161352.2(KCNMA1):c.1593+11G>A
NM_001161352.2(KCNMA1):c.1593+17C>T
NM_001161352.2(KCNMA1):c.1593+19G>T
NM_001161352.2(KCNMA1):c.1593+7G>A rs2153733001
NM_001161352.2(KCNMA1):c.1593+9G>A
NM_001161352.2(KCNMA1):c.1596C>G (p.Ala532=)
NM_001161352.2(KCNMA1):c.1600C>T (p.Leu534=)
NM_001161352.2(KCNMA1):c.1614G>C (p.Pro538=) rs368568833
NM_001161352.2(KCNMA1):c.1635T>C (p.Gly545=) rs112967315
NM_001161352.2(KCNMA1):c.1650C>T (p.Cys550=)
NM_001161352.2(KCNMA1):c.1653C>G (p.Leu551=)
NM_001161352.2(KCNMA1):c.165T>C (p.Ser55=)
NM_001161352.2(KCNMA1):c.1660T>C (p.Leu554=) rs2153710236
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=) rs746337315
NM_001161352.2(KCNMA1):c.1704C>T (p.Leu568=)
NM_001161352.2(KCNMA1):c.1716T>A (p.Leu572=) rs1352985094
NM_001161352.2(KCNMA1):c.171C>T (p.Ser57=)
NM_001161352.2(KCNMA1):c.1725C>T (p.Leu575=)
NM_001161352.2(KCNMA1):c.1750-12C>G
NM_001161352.2(KCNMA1):c.1750-15_1750-14del rs2153579451
NM_001161352.2(KCNMA1):c.1806C>T (p.Tyr602=)
NM_001161352.2(KCNMA1):c.180G>C (p.Ser60=)
NM_001161352.2(KCNMA1):c.1830C>T (p.Phe610=)
NM_001161352.2(KCNMA1):c.1848T>C (p.Pro616=)
NM_001161352.2(KCNMA1):c.1859+10C>G rs1223763211
NM_001161352.2(KCNMA1):c.1859+9C>A rs368765573
NM_001161352.2(KCNMA1):c.1859+9C>T rs368765573
NM_001161352.2(KCNMA1):c.1860-12A>G
NM_001161352.2(KCNMA1):c.1860-14C>G
NM_001161352.2(KCNMA1):c.1860-20G>C
NM_001161352.2(KCNMA1):c.1860-20G>T rs200414751
NM_001161352.2(KCNMA1):c.1860-7A>G rs766701400
NM_001161352.2(KCNMA1):c.186C>T (p.His62=)
NM_001161352.2(KCNMA1):c.1928+10_1928+11insT
NM_001161352.2(KCNMA1):c.1928+11G>A rs74476254
NM_001161352.2(KCNMA1):c.1928+11G>C rs74476254
NM_001161352.2(KCNMA1):c.1928+19A>G
NM_001161352.2(KCNMA1):c.1928+8T>C rs2153527182
NM_001161352.2(KCNMA1):c.1928+9G>T
NM_001161352.2(KCNMA1):c.1929-19_1929-16del rs764751316
NM_001161352.2(KCNMA1):c.1932A>T (p.Ile644=)
NM_001161352.2(KCNMA1):c.1962C>T (p.Ile654=)
NM_001161352.2(KCNMA1):c.1965A>G (p.Gln655=) rs1388398269
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=) rs201919794
NM_001161352.2(KCNMA1):c.1995T>C (p.Ser665=)
NM_001161352.2(KCNMA1):c.2015+10T>C rs2153480701
NM_001161352.2(KCNMA1):c.2015+20T>C
NM_001161352.2(KCNMA1):c.2016-15A>G rs2090892143
NM_001161352.2(KCNMA1):c.2016-18T>G
NM_001161352.2(KCNMA1):c.2019A>G (p.Ala673=) rs1266870482
NM_001161352.2(KCNMA1):c.2034G>A (p.Lys678=)
NM_001161352.2(KCNMA1):c.204G>T (p.Ala68=)
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_001161352.2(KCNMA1):c.207C>G (p.Leu69=) rs780686705
NM_001161352.2(KCNMA1):c.207C>T (p.Leu69=) rs780686705
NM_001161352.2(KCNMA1):c.2092+10G>A
NM_001161352.2(KCNMA1):c.2092+11T>A
NM_001161352.2(KCNMA1):c.2092+20C>T rs2153454081
NM_001161352.2(KCNMA1):c.213C>T (p.Ile71=)
NM_001161352.2(KCNMA1):c.2267-10G>A
NM_001161352.2(KCNMA1):c.2267-10G>C rs202075749
NM_001161352.2(KCNMA1):c.2267-14G>T
NM_001161352.2(KCNMA1):c.2267-19G>A rs2153159644
NM_001161352.2(KCNMA1):c.2267-8A>G
NM_001161352.2(KCNMA1):c.2289A>G (p.Thr763=)
NM_001161352.2(KCNMA1):c.228G>A (p.Glu76=)
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=) rs778997353
NM_001161352.2(KCNMA1):c.2326C>A (p.Arg776=)
NM_001161352.2(KCNMA1):c.2337C>T (p.Pro779=)
NM_001161352.2(KCNMA1):c.234G>A (p.Pro78=) rs1027255936
NM_001161352.2(KCNMA1):c.2360+11G>A
NM_001161352.2(KCNMA1):c.2360+13G>T
NM_001161352.2(KCNMA1):c.2360+18T>A
NM_001161352.2(KCNMA1):c.2361-13C>A
NM_001161352.2(KCNMA1):c.2361-8C>G
NM_001161352.2(KCNMA1):c.2373G>A (p.Leu791=)
NM_001161352.2(KCNMA1):c.2376A>G (p.Leu792=) rs2152988903
NM_001161352.2(KCNMA1):c.2439G>A (p.Gly813=)
NM_001161352.2(KCNMA1):c.243C>T (p.Ser81=)
NM_001161352.2(KCNMA1):c.2460C>A (p.Pro820=)
NM_001161352.2(KCNMA1):c.2481C>A (p.Ile827=)
NM_001161352.2(KCNMA1):c.2484+17G>A
NM_001161352.2(KCNMA1):c.2484+20T>C rs1167442087
NM_001161352.2(KCNMA1):c.2485-11C>T
NM_001161352.2(KCNMA1):c.2485-15T>C
NM_001161352.2(KCNMA1):c.2485-19C>G
NM_001161352.2(KCNMA1):c.2485-6T>C rs2152944830
NM_001161352.2(KCNMA1):c.2487T>G (p.Thr829=)
NM_001161352.2(KCNMA1):c.2508C>A (p.Thr836=) rs145100005
NM_001161352.2(KCNMA1):c.2523T>C (p.His841=)
NM_001161352.2(KCNMA1):c.252A>G (p.Gln84=)
NM_001161352.2(KCNMA1):c.2550C>T (p.Val850=)
NM_001161352.2(KCNMA1):c.2553C>T (p.Ser851=)
NM_001161352.2(KCNMA1):c.2556A>G (p.Ser852=)
NM_001161352.2(KCNMA1):c.2559C>G (p.Ala853=)
NM_001161352.2(KCNMA1):c.2568C>T (p.Gly856=)
NM_001161352.2(KCNMA1):c.2580G>A (p.Leu860=)
NM_001161352.2(KCNMA1):c.2583G>A (p.Val861=)
NM_001161352.2(KCNMA1):c.2628C>T (p.His876=)
NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=)
NM_001161352.2(KCNMA1):c.2662C>A (p.Arg888=) rs763848235
NM_001161352.2(KCNMA1):c.2691C>T (p.Pro897=)
NM_001161352.2(KCNMA1):c.2706G>A (p.Leu902=)
NM_001161352.2(KCNMA1):c.2709+10A>G
NM_001161352.2(KCNMA1):c.2709+12G>A
NM_001161352.2(KCNMA1):c.2709+17A>G
NM_001161352.2(KCNMA1):c.2710-12T>G
NM_001161352.2(KCNMA1):c.2710-14C>T
NM_001161352.2(KCNMA1):c.2710-17T>C
NM_001161352.2(KCNMA1):c.2737A>C (p.Arg913=) rs1039986904
NM_001161352.2(KCNMA1):c.2751C>T (p.Ile917=)
NM_001161352.2(KCNMA1):c.2754C>T (p.Asn918=)
NM_001161352.2(KCNMA1):c.2799T>C (p.Ile933=) rs2152885437
NM_001161352.2(KCNMA1):c.2802T>C (p.Asp934=)
NM_001161352.2(KCNMA1):c.2814G>T (p.Leu938=) rs1591526352
NM_001161352.2(KCNMA1):c.2820C>T (p.Asp940=)
NM_001161352.2(KCNMA1):c.282C>T (p.Ser94=)
NM_001161352.2(KCNMA1):c.2856T>C (p.Ser952=)
NM_001161352.2(KCNMA1):c.2868T>C (p.Asp956=)
NM_001161352.2(KCNMA1):c.2871C>T (p.Asp957=)
NM_001161352.2(KCNMA1):c.2880A>C (p.Gly960=)
NM_001161352.2(KCNMA1):c.2883C>A (p.Val961=)
NM_001161352.2(KCNMA1):c.2898C>T (p.Ser966=) rs2152884640
NM_001161352.2(KCNMA1):c.2902+10G>C rs1405354082
NM_001161352.2(KCNMA1):c.2902+11C>A rs375408967
NM_001161352.2(KCNMA1):c.2902+11C>T
NM_001161352.2(KCNMA1):c.2902+18T>C
NM_001161352.2(KCNMA1):c.2902+19A>G
NM_001161352.2(KCNMA1):c.2902+20C>A
NM_001161352.2(KCNMA1):c.2902+7A>G rs200812545
NM_001161352.2(KCNMA1):c.2903-11C>T
NM_001161352.2(KCNMA1):c.2903-12C>T
NM_001161352.2(KCNMA1):c.2903-4C>T
NM_001161352.2(KCNMA1):c.2903-5A>C rs2152436104
NM_001161352.2(KCNMA1):c.2943C>T (p.Asn981=)
NM_001161352.2(KCNMA1):c.297C>T (p.Phe99=)
NM_001161352.2(KCNMA1):c.2988G>A (p.Gly996=)
NM_001161352.2(KCNMA1):c.300G>A (p.Gly100=)
NM_001161352.2(KCNMA1):c.300G>C (p.Gly100=) rs376723692
NM_001161352.2(KCNMA1):c.3013C>T (p.Leu1005=)
NM_001161352.2(KCNMA1):c.3016+10A>G
NM_001161352.2(KCNMA1):c.3016+17G>C
NM_001161352.2(KCNMA1):c.3016+18C>T
NM_001161352.2(KCNMA1):c.3016+9C>A rs573678568
NM_001161352.2(KCNMA1):c.3017-19T>G
NM_001161352.2(KCNMA1):c.3017-9T>C
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=) rs1590247904
NM_001161352.2(KCNMA1):c.3054T>C (p.Asp1018=)
NM_001161352.2(KCNMA1):c.3066T>C (p.Pro1022=)
NM_001161352.2(KCNMA1):c.3087G>T (p.Thr1029=) rs200151850
NM_001161352.2(KCNMA1):c.3093C>G (p.Pro1031=) rs777115771
NM_001161352.2(KCNMA1):c.3093C>T (p.Pro1031=)
NM_001161352.2(KCNMA1):c.3117C>G (p.Ala1039=) rs544106405
NM_001161352.2(KCNMA1):c.3123T>C (p.Ser1041=)
NM_001161352.2(KCNMA1):c.3138C>T (p.Leu1046=) rs766964098
NM_001161352.2(KCNMA1):c.3147+13G>T
NM_001161352.2(KCNMA1):c.3147+19T>C
NM_001161352.2(KCNMA1):c.3147+20C>A
NM_001161352.2(KCNMA1):c.3148-10C>G
NM_001161352.2(KCNMA1):c.3148-17T>C
NM_001161352.2(KCNMA1):c.3156C>T (p.Phe1052=)
NM_001161352.2(KCNMA1):c.3175C>T (p.Leu1059=)
NM_001161352.2(KCNMA1):c.3177G>C (p.Leu1059=)
NM_001161352.2(KCNMA1):c.3186C>G (p.Thr1062=) rs2151874552
NM_001161352.2(KCNMA1):c.3192G>A (p.Val1064=)
NM_001161352.2(KCNMA1):c.3192G>C (p.Val1064=)
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=) rs762760539
NM_001161352.2(KCNMA1):c.3282T>C (p.Asn1094=)
NM_001161352.2(KCNMA1):c.3306G>A (p.Gln1102=) rs1253872471
NM_001161352.2(KCNMA1):c.3342+11A>G
NM_001161352.2(KCNMA1):c.3342+20G>T
NM_001161352.2(KCNMA1):c.3342+8C>T
NM_001161352.2(KCNMA1):c.3343-15T>G
NM_001161352.2(KCNMA1):c.3345T>C (p.Asp1115=)
NM_001161352.2(KCNMA1):c.336G>A (p.Lys112=)
NM_001161352.2(KCNMA1):c.3420G>A (p.Leu1140=) rs781323146
NM_001161352.2(KCNMA1):c.3435C>G (p.Leu1145=) rs1449275813
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=) rs765051720
NM_001161352.2(KCNMA1):c.3461+17A>C rs1442317817
NM_001161352.2(KCNMA1):c.3462-9C>T
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=) rs202172473
NM_001161352.2(KCNMA1):c.3480G>T (p.Pro1160=)
NM_001161352.2(KCNMA1):c.348C>A (p.Thr116=) rs200178895
NM_001161352.2(KCNMA1):c.3492T>C (p.Phe1164=)
NM_001161352.2(KCNMA1):c.3498C>T (p.Leu1166=)
NM_001161352.2(KCNMA1):c.3549C>T (p.Gly1183=)
NM_001161352.2(KCNMA1):c.354C>T (p.Cys118=) rs746678754
NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=)
NM_001161352.2(KCNMA1):c.3588G>T (p.Ser1196=)
NM_001161352.2(KCNMA1):c.3603G>A (p.Lys1201=)
NM_001161352.2(KCNMA1):c.3621C>T (p.His1207=) rs1589550559
NM_001161352.2(KCNMA1):c.3630A>G (p.Pro1210=)
NM_001161352.2(KCNMA1):c.3633C>T (p.Ser1211=)
NM_001161352.2(KCNMA1):c.3690C>T (p.Tyr1230=) rs199569326
NM_001161352.2(KCNMA1):c.3693G>T (p.Val1231=)
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys) rs779739159
NM_001161352.2(KCNMA1):c.378+10G>A
NM_001161352.2(KCNMA1):c.378+11C>T
NM_001161352.2(KCNMA1):c.378+15G>T
NM_001161352.2(KCNMA1):c.378+19G>A
NM_001161352.2(KCNMA1):c.378+8G>A
NM_001161352.2(KCNMA1):c.379-12C>G rs200550652
NM_001161352.2(KCNMA1):c.379-16C>T
NM_001161352.2(KCNMA1):c.384C>T (p.Ala128=)
NM_001161352.2(KCNMA1):c.399T>C (p.Asn133=) rs767525618
NM_001161352.2(KCNMA1):c.432A>C (p.Pro144=)
NM_001161352.2(KCNMA1):c.450G>A (p.Glu150=)
NM_001161352.2(KCNMA1):c.45C>T (p.Gly15=)
NM_001161352.2(KCNMA1):c.468C>G (p.Val156=)
NM_001161352.2(KCNMA1):c.504G>A (p.Val168=) rs2154465069
NM_001161352.2(KCNMA1):c.51C>T (p.Gly17=) rs2093897739
NM_001161352.2(KCNMA1):c.537C>T (p.Val179=) rs1429736923
NM_001161352.2(KCNMA1):c.540+16C>A
NM_001161352.2(KCNMA1):c.541-13T>A
NM_001161352.2(KCNMA1):c.541-14_541-12del rs767470741
NM_001161352.2(KCNMA1):c.541-15C>T
NM_001161352.2(KCNMA1):c.543T>C (p.Val181=)
NM_001161352.2(KCNMA1):c.54C>G (p.Gly18=)
NM_001161352.2(KCNMA1):c.558T>C (p.Ala186=) rs1600047695
NM_001161352.2(KCNMA1):c.602+12634G>C
NM_001161352.2(KCNMA1):c.602+17A>G
NM_001161352.2(KCNMA1):c.602+20_602+21del
NM_001161352.2(KCNMA1):c.603-14T>G
NM_001161352.2(KCNMA1):c.603-16T>A
NM_001161352.2(KCNMA1):c.603-6T>C rs201637862
NM_001161352.2(KCNMA1):c.603-9_603-6del rs761537725
NM_001161352.2(KCNMA1):c.690C>G (p.Gly230=) rs1467313801
NM_001161352.2(KCNMA1):c.696+11G>A
NM_001161352.2(KCNMA1):c.696+13A>G rs551077112
NM_001161352.2(KCNMA1):c.696+16A>G
NM_001161352.2(KCNMA1):c.696+17T>C rs2154127662
NM_001161352.2(KCNMA1):c.697-18A>G
NM_001161352.2(KCNMA1):c.697-6C>T rs2098819163
NM_001161352.2(KCNMA1):c.718T>C (p.Leu240=)
NM_001161352.2(KCNMA1):c.726C>T (p.Phe242=)
NM_001161352.2(KCNMA1):c.735A>G (p.Glu245=)
NM_001161352.2(KCNMA1):c.741C>T (p.Asn247=)
NM_001161352.2(KCNMA1):c.744T>C (p.Ser248=)
NM_001161352.2(KCNMA1):c.747A>G (p.Val249=) rs375991485
NM_001161352.2(KCNMA1):c.765G>C (p.Val255=)
NM_001161352.2(KCNMA1):c.768C>T (p.Pro256=)
NM_001161352.2(KCNMA1):c.786G>A (p.Val262=)
NM_001161352.2(KCNMA1):c.808+10C>G rs2154124730
NM_001161352.2(KCNMA1):c.808+11CT[2] rs2154124723
NM_001161352.2(KCNMA1):c.809-15C>A
NM_001161352.2(KCNMA1):c.809-4C>G
NM_001161352.2(KCNMA1):c.809-5dup
NM_001161352.2(KCNMA1):c.831G>C (p.Leu277=)
NM_001161352.2(KCNMA1):c.85A>T (p.Ile29Phe)
NM_001161352.2(KCNMA1):c.884+13T>C
NM_001161352.2(KCNMA1):c.885-16G>A
NM_001161352.2(KCNMA1):c.885-20G>C
NM_001161352.2(KCNMA1):c.885-4A>G
NM_001161352.2(KCNMA1):c.891C>T (p.Ser297=)
NM_001161352.2(KCNMA1):c.894C>T (p.Ile298=) rs80332184
NM_001161352.2(KCNMA1):c.897G>A (p.Lys299=)
NM_001161352.2(KCNMA1):c.900G>A (p.Leu300=) rs2153889736
NM_001161352.2(KCNMA1):c.903G>A (p.Val301=)
NM_001161352.2(KCNMA1):c.90C>A (p.His30Gln) rs75040504
NM_001161352.2(KCNMA1):c.92C>T (p.Ala31Val) rs201551432
NM_001161352.2(KCNMA1):c.958T>C (p.Leu320=)
NM_001161352.2(KCNMA1):c.960+20_960+23del
NM_001161352.2(KCNMA1):c.961-11A>G
NM_001161352.2(KCNMA1):c.961-17T>C
NM_001161352.2(KCNMA1):c.972A>G (p.Ser324=)
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=) rs1596161285
NM_001161352.2(KCNMA1):c.996A>G (p.Gln332=)

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