ClinVar Miner

List of variants in gene KCNMA1 studied for Generalized epilepsy-paroxysmal dyskinesia syndrome

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ClinVar version:
Total variants: 1111
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.*1957C>T rs7073015 0.82683
NM_001161352.2(KCNMA1):c.2015+37C>T rs16934182 0.55282
NM_001161352.2(KCNMA1):c.*1571C>T rs10762733 0.49921
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_001161352.2(KCNMA1):c.602+12634G>T rs553199 0.38855
NM_001161352.2(KCNMA1):c.*488C>A rs2116830 0.13876
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280 0.01852
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228 0.01731
NM_001161352.2(KCNMA1):c.*321C>T rs7078702 0.01265
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_001161352.2(KCNMA1):c.*932G>T rs76644618 0.00873
NM_001161352.2(KCNMA1):c.*634C>G rs74139846 0.00747
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001161352.2(KCNMA1):c.*1765T>C rs80189498 0.00532
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097 0.00314
NM_001161352.2(KCNMA1):c.*690C>A rs145289064 0.00312
NM_001161352.2(KCNMA1):c.*394C>A rs41281550 0.00287
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009 0.00285
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003 0.00188
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001161352.2(KCNMA1):c.961-13C>G rs201400753 0.00148
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) rs115772068 0.00145
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686 0.00142
NM_001161352.2(KCNMA1):c.*2325T>A rs41281548 0.00103
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=) rs138823071 0.00091
NM_001161352.2(KCNMA1):c.*1284T>C rs200045921 0.00066
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=) rs200608314 0.00060
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.*2138C>T rs77051509 0.00030
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272 0.00030
NM_001161352.2(KCNMA1):c.*115C>A rs557364455 0.00029
NM_001161352.2(KCNMA1):c.1441-11C>T rs79390996 0.00028
NM_001161352.2(KCNMA1):c.*1006G>A rs200955430 0.00026
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) rs76141718 0.00026
NM_001161352.2(KCNMA1):c.*1100C>T rs199706896 0.00024
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.*862A>G rs199819984 0.00019
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.37G>A (p.Gly13Ser) rs1568036609 0.00019
NM_001161352.2(KCNMA1):c.*1315C>T rs147816527 0.00018
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.*1529C>T rs200493344 0.00014
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902 0.00012
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224 0.00012
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.*497A>G rs200933957 0.00009
NM_001161352.2(KCNMA1):c.-25C>T rs373677230 0.00009
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.16G>A (p.Gly6Ser) rs914048941 0.00009
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078 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.3635C>T (p.Thr1212Ile) rs200773083 0.00008
NM_001161352.2(KCNMA1):c.603-5A>G rs907422214 0.00008
NM_002247.3(KCNMA1):c.-175C>A rs184782926 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.*1202C>A rs200435801 0.00006
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.182T>C (p.Val61Ala) rs200420124 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.2015+5G>C rs746586408 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.*1633C>T rs201201425 0.00004
NM_001161352.2(KCNMA1):c.*50C>T rs200326097 0.00004
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397 0.00004
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe) rs766759815 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+18C>T rs189310292 0.00004
NM_001161352.2(KCNMA1):c.1593+19G>A rs770715910 0.00004
NM_001161352.2(KCNMA1):c.1594-20dup rs535571320 0.00004
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu) rs776719617 0.00004
NM_001161352.2(KCNMA1):c.2015+18A>G rs200136190 0.00004
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp) rs200299051 0.00004
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala) rs767957728 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.2966G>A (p.Arg989His) rs369646039 0.00004
NM_001161352.2(KCNMA1):c.3017-5T>C rs202032522 0.00004
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190 0.00004
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=) rs200321180 0.00004
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) rs376264061 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.-104G>A rs192912320 0.00003
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.1614G>A (p.Pro538=) rs368568833 0.00003
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001161352.2(KCNMA1):c.1788A>G (p.Gly596=) rs527331588 0.00003
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) rs200668674 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.2367C>A (p.Asp789Glu) rs587780363 0.00003
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr) rs75573826 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.2714C>T (p.Thr905Met) rs201192736 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.3147G>A (p.Ala1049=) rs201397661 0.00003
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270 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.3673C>T (p.Arg1225Trp) rs148648986 0.00003
NM_001161352.2(KCNMA1):c.469G>A (p.Gly157Ser) rs767576877 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.*1243T>C rs141466507 0.00002
NM_001161352.2(KCNMA1):c.*2326C>A rs199764115 0.00002
NM_001161352.2(KCNMA1):c.1224-4T>A rs200167721 0.00002
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile) rs762346849 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.1554G>T (p.Lys518Asn) rs201996416 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.1849A>G (p.Thr617Ala) rs199572642 0.00002
NM_001161352.2(KCNMA1):c.1928+10C>T rs200921631 0.00002
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) rs202188493 0.00002
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569 0.00002
NM_001161352.2(KCNMA1):c.2481C>G (p.Ile827Met) rs760789370 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.2770G>A (p.Val924Ile) rs764912308 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.3462-10C>T rs559764920 0.00002
NM_001161352.2(KCNMA1):c.3546C>T (p.Ala1182=) rs200763661 0.00002
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala) rs199568153 0.00002
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln) rs200410171 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.85A>G (p.Ile29Val) rs369845234 0.00002
NM_001161352.2(KCNMA1):c.884+8G>A rs777197385 0.00002
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) rs201551432 0.00002
NM_001161352.2(KCNMA1):c.*1025G>C rs886047263 0.00001
NM_001161352.2(KCNMA1):c.*129T>G rs201808440 0.00001
NM_001161352.2(KCNMA1):c.*15G>A rs200873312 0.00001
NM_001161352.2(KCNMA1):c.*1887G>A rs886047261 0.00001
NM_001161352.2(KCNMA1):c.*21G>A rs774699192 0.00001
NM_001161352.2(KCNMA1):c.*2226A>G rs560236547 0.00001
NM_001161352.2(KCNMA1):c.*2278G>A rs886047257 0.00001
NM_001161352.2(KCNMA1):c.*531C>T rs748726029 0.00001
NM_001161352.2(KCNMA1):c.*834T>C rs543740279 0.00001
NM_001161352.2(KCNMA1):c.1014C>T (p.Thr338=) rs746250658 0.00001
NM_001161352.2(KCNMA1):c.1131+13C>A rs886047268 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.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) rs201999021 0.00001
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile) rs756023062 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.140C>T (p.Ser47Phe) rs907549386 0.00001
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=) rs903717178 0.00001
NM_001161352.2(KCNMA1):c.1442T>C (p.Ile481Thr) rs199570223 0.00001
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336 0.00001
NM_001161352.2(KCNMA1):c.1523+9T>G rs539064392 0.00001
NM_001161352.2(KCNMA1):c.1534A>G (p.Ile512Val) rs781682363 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.1622A>G (p.Asn541Ser) rs1447211434 0.00001
NM_001161352.2(KCNMA1):c.1623T>C (p.Asn541=) rs762789995 0.00001
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) rs143385319 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.1749+5C>T rs868280659 0.00001
NM_001161352.2(KCNMA1):c.1764A>G (p.Thr588=) rs145660886 0.00001
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly) rs760442123 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.187G>C (p.Glu63Gln) rs749265202 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.1967A>C (p.Glu656Ala) rs917980352 0.00001
NM_001161352.2(KCNMA1):c.1990G>A (p.Ala664Thr) rs2092521373 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.2282C>T (p.Pro761Leu) rs771363378 0.00001
NM_001161352.2(KCNMA1):c.2306A>C (p.Lys769Thr) rs2075559827 0.00001
NM_001161352.2(KCNMA1):c.2313G>A (p.Arg771=) rs566306042 0.00001
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu) rs145067821 0.00001
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) rs751919609 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.2404A>G (p.Met802Val) rs200544842 0.00001
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser) rs1211672809 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.2660A>G (p.Lys887Arg) rs753684298 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.2806A>G (p.Thr936Ala) rs201167566 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.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001161352.2(KCNMA1):c.3118G>A (p.Val1040Ile) rs201534741 0.00001
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=) rs751861895 0.00001
NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr) rs199586877 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.3147+3G>A rs1371574005 0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C rs558650814 0.00001
NM_001161352.2(KCNMA1):c.3148-6C>T rs201087232 0.00001
NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala) rs2040120292 0.00001
NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val) rs1005340112 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.3281A>G (p.Asn1094Ser) rs1395464276 0.00001
NM_001161352.2(KCNMA1):c.3297C>T (p.Arg1099=) rs372103668 0.00001
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn) rs1314238418 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.340C>A (p.Leu114Met) rs780623276 0.00001
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) rs1397556923 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.3493G>C (p.Glu1165Gln) rs757053731 0.00001
NM_001161352.2(KCNMA1):c.3504G>A (p.Pro1168=) rs200945011 0.00001
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) rs200284976 0.00001
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) rs747029218 0.00001
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207 0.00001
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe) rs777595748 0.00001
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu) rs202024249 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly) rs985517880 0.00001
NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln) rs760806787 0.00001
NM_001161352.2(KCNMA1):c.364G>A (p.Gly122Arg) rs1167824169 0.00001
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) rs200723995 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.3670T>C (p.Ser1224Pro) rs1370349180 0.00001
NM_001161352.2(KCNMA1):c.3681A>G (p.Lys1227=) rs150023686 0.00001
NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp) rs139370249 0.00001
NM_001161352.2(KCNMA1):c.375G>A (p.Thr125=) rs1349036007 0.00001
NM_001161352.2(KCNMA1):c.378+503T>C rs200150931 0.00001
NM_001161352.2(KCNMA1):c.378+7C>T rs754351803 0.00001
NM_001161352.2(KCNMA1):c.385C>G (p.Gln129Glu) rs377430922 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.422C>T (p.Thr141Ile) rs1002138627 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.4G>A (p.Ala2Thr) rs1344908173 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.59G>A (p.Gly20Asp) rs888320237 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.632A>G (p.Lys211Arg) rs771113362 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.667G>A (p.Val223Met) rs779829350 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.70_73del (p.Leu23_Arg24insTer) rs2093893902 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.96C>G (p.Asn32Lys) rs749212119 0.00001
NC_000010.10:g.(?_78844375)_(78846371_?)del
NC_000010.10:g.(?_78943159)_(78944694_?)dup
NC_000010.10:g.(?_78998319)_(79163801_?)del
NC_000010.10:g.(?_78998319)_(79163801_?)dup
NC_000010.10:g.(?_79396125)_(79397420_?)dup
NC_000010.10:g.(?_79397003)_(79397400_?)dup
NM_001161352.2(KCNMA1):c.*1022TTTG[1] rs755720081
NM_001161352.2(KCNMA1):c.*1131C>A rs2036799787
NM_001161352.2(KCNMA1):c.*113dup rs144100057
NM_001161352.2(KCNMA1):c.*1165C>T rs886047262
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.*1507G>A rs1430842020
NM_001161352.2(KCNMA1):c.*1739G>T rs184468198
NM_001161352.2(KCNMA1):c.*1935A>G rs886047260
NM_001161352.2(KCNMA1):c.*1937T>G rs886047259
NM_001161352.2(KCNMA1):c.*2015TA[7] rs562756117
NM_001161352.2(KCNMA1):c.*2117G>T rs886047258
NM_001161352.2(KCNMA1):c.*223A>G rs886047267
NM_001161352.2(KCNMA1):c.*2373dup rs552322812
NM_001161352.2(KCNMA1):c.*411GTT[4] rs879619415
NM_001161352.2(KCNMA1):c.*429CTTT[2] rs886047266
NM_001161352.2(KCNMA1):c.*539T>C rs886047265
NM_001161352.2(KCNMA1):c.*570T>C rs886047264
NM_001161352.2(KCNMA1):c.*69A>G rs2037466690
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.-104_-96dup rs1555529241
NM_001161352.2(KCNMA1):c.-116GGC[7] rs781056387
NM_001161352.2(KCNMA1):c.-131C>T rs575507832
NM_001161352.2(KCNMA1):c.-57G>T rs886047271
NM_001161352.2(KCNMA1):c.1044C>A (p.Val348=)
NM_001161352.2(KCNMA1):c.1044C>T (p.Val348=)
NM_001161352.2(KCNMA1):c.1049T>G (p.Met350Arg)
NM_001161352.2(KCNMA1):c.104G>A (p.Ser35Asn)
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala) rs863224885
NM_001161352.2(KCNMA1):c.105C>T (p.Ser35=)
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) rs1564596167
NM_001161352.2(KCNMA1):c.1077T>C (p.Tyr359=)
NM_001161352.2(KCNMA1):c.1078G>A (p.Ala360Thr)
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=) rs1564595933
NM_001161352.2(KCNMA1):c.1089A>C (p.Thr363=)
NM_001161352.2(KCNMA1):c.1105A>G (p.Met369Val)
NM_001161352.2(KCNMA1):c.1105A>T (p.Met369Leu) rs2153875624
NM_001161352.2(KCNMA1):c.1112T>G (p.Phe371Cys)
NM_001161352.2(KCNMA1):c.111C>T (p.Asp37=)
NM_001161352.2(KCNMA1):c.1123G>T (p.Gly375Trp)
NM_001161352.2(KCNMA1):c.112G>A (p.Ala38Thr) rs767099267
NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro) rs767099267
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser)
NM_001161352.2(KCNMA1):c.1131+11A>G
NM_001161352.2(KCNMA1):c.1131+11del rs545073914
NM_001161352.2(KCNMA1):c.1131+11dup rs545073914
NM_001161352.2(KCNMA1):c.1131+15T>G
NM_001161352.2(KCNMA1):c.1131+20A>G
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr) rs2097249003
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.1171A>G (p.Ile391Val) rs1402453017
NM_001161352.2(KCNMA1):c.117C>T (p.Ser39=) rs2154572156
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup) rs572827902
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.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1197C>T (p.Gly399=) rs2153860930
NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val)
NM_001161352.2(KCNMA1):c.1213A>T (p.Ser405Cys)
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.1229T>C (p.Ile410Thr) rs2153792409
NM_001161352.2(KCNMA1):c.122C>A (p.Ser41Tyr)
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.1284del (p.Leu429fs) rs2153792334
NM_001161352.2(KCNMA1):c.128C>T (p.Ser43Phe)
NM_001161352.2(KCNMA1):c.1297C>A (p.Arg433=)
NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly)
NM_001161352.2(KCNMA1):c.12_20dup (p.Gly10_Ser11insGlyGlyGly)
NM_001161352.2(KCNMA1):c.1311T>C (p.Asn437=) rs1182112018
NM_001161352.2(KCNMA1):c.1315G>A (p.Glu439Lys)
NM_001161352.2(KCNMA1):c.132_143dup (p.Ser60_Val61insSerSerSerSer)
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.1334+3A>G rs2153792200
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.1335C>T (p.Asn445=)
NM_001161352.2(KCNMA1):c.1336A>G (p.Ile446Val) rs2096695305
NM_001161352.2(KCNMA1):c.1339T>C (p.Ser447Pro)
NM_001161352.2(KCNMA1):c.1341C>T (p.Ser447=)
NM_001161352.2(KCNMA1):c.1343C>G (p.Pro448Arg)
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.135CTCTTC[3] (p.Ser60_Val61insSerSer)
NM_001161352.2(KCNMA1):c.135_143dup (p.Ser60_Val61insSerSerSer)
NM_001161352.2(KCNMA1):c.1377T>C (p.His459=)
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) rs794726903
NM_001161352.2(KCNMA1):c.13GGC[2] (p.Gly7_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[3] (p.Gly8_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[4] (p.Gly9_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[5] (p.Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly)
NM_001161352.2(KCNMA1):c.1404T>C (p.Gly468=)
NM_001161352.2(KCNMA1):c.1408G>A (p.Val470Ile)
NM_001161352.2(KCNMA1):c.1428T>A (p.Leu476=)
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs) rs2153773364
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.1441-7G>T
NM_001161352.2(KCNMA1):c.1441-9G>A
NM_001161352.2(KCNMA1):c.1449A>G (p.Ser483=)
NM_001161352.2(KCNMA1):c.144TTC[1] (p.Ser58_Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.144TTC[2] (p.Ser59_Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.144TTC[6] (p.Ser59_Ser60dup) rs751901610
NM_001161352.2(KCNMA1):c.144_170dup (p.Ser60_Val61insSerSerSerSerSerSerSerSerSer)
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.147_167dup (p.Ser60_Val61insSerSerSerSerSerSerSer)
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu) rs1381424078
NM_001161352.2(KCNMA1):c.1493C>T (p.Pro498Leu) rs2096653786
NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup) rs2093907468
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.1515T>A (p.Asn505Lys)
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.152C>T (p.Ser51Phe) rs2093884478
NM_001161352.2(KCNMA1):c.153T>C (p.Ser51=) rs200164685
NM_001161352.2(KCNMA1):c.1550C>T (p.Pro517Leu)
NM_001161352.2(KCNMA1):c.155C>T (p.Ser52Phe) rs1483499989
NM_001161352.2(KCNMA1):c.156C>T (p.Ser52=)
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del) rs778736171
NM_001161352.2(KCNMA1):c.156CTC[4] (p.Ser60_Val61insSer)
NM_001161352.2(KCNMA1):c.1585C>T (p.His529Tyr)
NM_001161352.2(KCNMA1):c.1586A>G (p.His529Arg)
NM_001161352.2(KCNMA1):c.1593+10C>T rs200770082
NM_001161352.2(KCNMA1):c.1593+11G>A
NM_001161352.2(KCNMA1):c.1593+11G>T rs199674898
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.1594G>A (p.Ala532Thr)
NM_001161352.2(KCNMA1):c.1596C>G (p.Ala532=)
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_001161352.2(KCNMA1):c.1600C>T (p.Leu534=)
NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu)
NM_001161352.2(KCNMA1):c.1612C>G (p.Pro538Ala)
NM_001161352.2(KCNMA1):c.1614G>C (p.Pro538=) rs368568833
NM_001161352.2(KCNMA1):c.161C>T (p.Ser54Phe)
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1635T>C (p.Gly545=) rs112967315
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr) rs974940310
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.168_179del (p.Ser57_Ser60del) rs1015011962
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del) rs1491384967
NM_001161352.2(KCNMA1):c.16_33dup (p.Gly6_Ser11dup) rs1491384967
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=) rs746337315
NM_001161352.2(KCNMA1):c.1704C>T (p.Leu568=)
NM_001161352.2(KCNMA1):c.1712T>C (p.Met571Thr) rs2153710128
NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile)
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.1744A>G (p.Ile582Val)
NM_001161352.2(KCNMA1):c.1749+2T>C
NM_001161352.2(KCNMA1):c.1750-12C>G
NM_001161352.2(KCNMA1):c.1750-15_1750-14del rs2153579451
NM_001161352.2(KCNMA1):c.1750-3T>C rs369035808
NM_001161352.2(KCNMA1):c.1752T>A (p.Ile584=)
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro) rs2093880726
NM_001161352.2(KCNMA1):c.1767G>T (p.Trp589Cys)
NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe)
NM_001161352.2(KCNMA1):c.1775A>G (p.Tyr592Cys)
NM_001161352.2(KCNMA1):c.1783G>A (p.Glu595Lys) rs2094532399
NM_001161352.2(KCNMA1):c.1792T>G (p.Ser598Ala) rs2094532158
NM_001161352.2(KCNMA1):c.1795A>G (p.Asn599Asp)
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) rs768769748
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu) rs768769748
NM_001161352.2(KCNMA1):c.1806C>T (p.Tyr602=)
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala) rs2094531972
NM_001161352.2(KCNMA1):c.180G>C (p.Ser60=)
NM_001161352.2(KCNMA1):c.1830C>T (p.Phe610=)
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) rs200668674
NM_001161352.2(KCNMA1):c.1835G>A (p.Gly612Asp)
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg) rs2094530696
NM_001161352.2(KCNMA1):c.1848T>C (p.Pro616=)
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile) rs1440636763
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.1860-3C>T
NM_001161352.2(KCNMA1):c.1860-7A>G rs766701400
NM_001161352.2(KCNMA1):c.1860G>C (p.Glu620Asp)
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs)
NM_001161352.2(KCNMA1):c.186C>G (p.His62Gln)
NM_001161352.2(KCNMA1):c.186C>T (p.His62=)
NM_001161352.2(KCNMA1):c.1870G>T (p.Val624Leu) rs2153527454
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg) rs1555142864
NM_001161352.2(KCNMA1):c.1888A>T (p.Met630Leu)
NM_001161352.2(KCNMA1):c.1897A>G (p.Ile633Val)
NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys)
NM_001161352.2(KCNMA1):c.1909T>G (p.Ser637Ala) rs1409251473
NM_001161352.2(KCNMA1):c.1925G>A (p.Ser642Asn)
NM_001161352.2(KCNMA1):c.1926C>G (p.Ser642Arg)
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.1928G>T (p.Arg643Leu) rs2093602876
NM_001161352.2(KCNMA1):c.1929-19_1929-16del rs764751316
NM_001161352.2(KCNMA1):c.1929-6G>A rs2092525713
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) rs1064797145
NM_001161352.2(KCNMA1):c.1932A>T (p.Ile644=)
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val) rs2092524960
NM_001161352.2(KCNMA1):c.1951C>G (p.His651Asp)
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) rs200013065
NM_001161352.2(KCNMA1):c.1952A>T (p.His651Leu) rs200013065
NM_001161352.2(KCNMA1):c.1962C>T (p.Ile654=)
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu) rs2092523707
NM_001161352.2(KCNMA1):c.1965A>G (p.Gln655=) rs1388398269
NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met)
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=) rs201919794
NM_001161352.2(KCNMA1):c.1995T>C (p.Ser665=)
NM_001161352.2(KCNMA1):c.19_33dup (p.Ser11_Ser12insGlyGlyGlyGlySer)
NM_001161352.2(KCNMA1):c.1A>G (p.Met1Val)
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.2053A>G (p.Thr685Ala) rs1449813631
NM_001161352.2(KCNMA1):c.2053A>T (p.Thr685Ser)
NM_001161352.2(KCNMA1):c.2056G>A (p.Asp686Asn)
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val) rs2153454278
NM_001161352.2(KCNMA1):c.2066G>A (p.Arg689Lys)
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser) rs2153454235
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=) rs368366851
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr) rs2090878635
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+1G>A rs2090875352
NM_001161352.2(KCNMA1):c.2092+20C>T rs2153454081
NM_001161352.2(KCNMA1):c.2096A>G (p.Lys699Arg)
NM_001161352.2(KCNMA1):c.211A>G (p.Ile71Val)
NM_001161352.2(KCNMA1):c.213C>T (p.Ile71=)
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg) rs2093876319
NM_001161352.2(KCNMA1):c.2170A>C (p.Met724Leu)
NM_001161352.2(KCNMA1):c.225G>A (p.Met75Ile) rs1464796627
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.2291T>C (p.Leu764Pro) rs781228418
NM_001161352.2(KCNMA1):c.22_33del (p.Gly8_Ser11del)
NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu)
NM_001161352.2(KCNMA1):c.2316T>A (p.Asn772Lys)
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=) rs778997353
NM_001161352.2(KCNMA1):c.2317G>A (p.Gly773Arg)
NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu)
NM_001161352.2(KCNMA1):c.2326C>A (p.Arg776=)
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln) rs200676185
NM_001161352.2(KCNMA1):c.2332T>A (p.Ser778Thr)
NM_001161352.2(KCNMA1):c.2336C>T (p.Pro779Leu)
NM_001161352.2(KCNMA1):c.2337C>T (p.Pro779=)
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
NM_001161352.2(KCNMA1):c.233C>T (p.Pro78Leu)
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn) rs976855600
NM_001161352.2(KCNMA1):c.234G>A (p.Pro78=) rs1027255936
NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val)
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.2369_2371dup (p.Pro790_Leu791insSer)
NM_001161352.2(KCNMA1):c.2373G>A (p.Leu791=)
NM_001161352.2(KCNMA1):c.2376A>G (p.Leu792=) rs2152988903
NM_001161352.2(KCNMA1):c.2383G>C (p.Gly795Arg)
NM_001161352.2(KCNMA1):c.2387A>T (p.Asn796Ile) rs2152988834
NM_001161352.2(KCNMA1):c.2388T>C (p.Asn796=)
NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr)
NM_001161352.2(KCNMA1):c.2400C>G (p.Asp800Glu) rs2152988719
NM_001161352.2(KCNMA1):c.2408A>G (p.Asp803Gly)
NM_001161352.2(KCNMA1):c.2408A>T (p.Asp803Val) rs2067187945
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe) rs2152988601
NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr)
NM_001161352.2(KCNMA1):c.2423A>G (p.Lys808Arg) rs780661063
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.2475A>T (p.Lys825Asn)
NM_001161352.2(KCNMA1):c.2480T>C (p.Ile827Thr)
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.2485A>G (p.Thr829Ala)
NM_001161352.2(KCNMA1):c.2487T>G (p.Thr829=)
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter) rs2065361594
NM_001161352.2(KCNMA1):c.2489G>A (p.Arg830Gln)
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val) rs2065356454
NM_001161352.2(KCNMA1):c.2508C>A (p.Thr836=) rs145100005
NM_001161352.2(KCNMA1):c.2509G>A (p.Val837Ile)
NM_001161352.2(KCNMA1):c.2521del (p.His841fs) rs2152944295
NM_001161352.2(KCNMA1):c.2523T>C (p.His841=)
NM_001161352.2(KCNMA1):c.252A>G (p.Gln84=)
NM_001161352.2(KCNMA1):c.2536A>G (p.Ile846Val)
NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser) rs2154572127
NM_001161352.2(KCNMA1):c.2545G>A (p.Asp849Asn)
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) rs147369374
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.2572C>T (p.Arg858Trp) rs199681253
NM_001161352.2(KCNMA1):c.2580G>A (p.Leu860=)
NM_001161352.2(KCNMA1):c.2583G>A (p.Val861=)
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001161352.2(KCNMA1):c.25_33del (p.Gly9_Ser11del)
NM_001161352.2(KCNMA1):c.2628C>T (p.His876=)
NM_001161352.2(KCNMA1):c.2629A>G (p.Ile877Val)
NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=)
NM_001161352.2(KCNMA1):c.2656C>T (p.Leu886Phe) rs2152943139
NM_001161352.2(KCNMA1):c.2662C>A (p.Arg888=) rs763848235
NM_001161352.2(KCNMA1):c.2663G>A (p.Arg888Gln)
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg) rs2065325262
NM_001161352.2(KCNMA1):c.2681A>T (p.His894Leu)
NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser)
NM_001161352.2(KCNMA1):c.2691C>T (p.Pro897=)
NM_001161352.2(KCNMA1):c.2701A>C (p.Ile901Leu) rs762661695
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.2709T>C (p.Pro903=)
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.2710-19del rs112408409
NM_001161352.2(KCNMA1):c.2710-19dup rs112408409
NM_001161352.2(KCNMA1):c.2710-3A>T rs1214940006
NM_001161352.2(KCNMA1):c.2710-8_2710-7inv
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser) rs2063511193
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg) rs201192736
NM_001161352.2(KCNMA1):c.2731G>C (p.Asp911His)
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.2783C>T (p.Ala928Val) rs2152885647
NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser)
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs) rs2063502424
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro) rs2152885532
NM_001161352.2(KCNMA1):c.278C>T (p.Ser93Phe)
NM_001161352.2(KCNMA1):c.2791A>G (p.Asn931Asp)
NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser)
NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr)
NM_001161352.2(KCNMA1):c.2799T>C (p.Ile933=) rs2152885437
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del) rs1163075445
NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer)
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.2824G>A (p.Glu942Lys) rs1554966197
NM_001161352.2(KCNMA1):c.282C>T (p.Ser94=)
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val) rs762347754
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
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.2873G>T (p.Ser958Ile) rs2152884880
NM_001161352.2(KCNMA1):c.2878G>A (p.Gly960Arg)
NM_001161352.2(KCNMA1):c.2880A>C (p.Gly960=)
NM_001161352.2(KCNMA1):c.2881G>A (p.Val961Ile)
NM_001161352.2(KCNMA1):c.2883C>A (p.Val961=)
NM_001161352.2(KCNMA1):c.2893A>G (p.Asn965Asp)
NM_001161352.2(KCNMA1):c.2898C>T (p.Ser966=) rs2152884640
NM_001161352.2(KCNMA1):c.28G>A (p.Gly10Ser)
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.2912C>A (p.Pro971His)
NM_001161352.2(KCNMA1):c.2926A>G (p.Arg976Gly)
NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe)
NM_001161352.2(KCNMA1):c.2943C>T (p.Asn981=)
NM_001161352.2(KCNMA1):c.2948C>G (p.Pro983Arg)
NM_001161352.2(KCNMA1):c.2951T>C (p.Val984Ala)
NM_001161352.2(KCNMA1):c.2956G>A (p.Gly986Arg)
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg) rs763598041
NM_001161352.2(KCNMA1):c.2974T>G (p.Ser992Ala)
NM_001161352.2(KCNMA1):c.2977A>G (p.Ile993Val)
NM_001161352.2(KCNMA1):c.297C>T (p.Phe99=)
NM_001161352.2(KCNMA1):c.297del (p.Phe99fs)
NM_001161352.2(KCNMA1):c.2988G>A (p.Gly996=)
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del) rs2093871879
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser) rs2052158751
NM_001161352.2(KCNMA1):c.2995A>C (p.Ile999Leu)
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+16_3016+17inv
NM_001161352.2(KCNMA1):c.3016+17G>C
NM_001161352.2(KCNMA1):c.3016+18C>T
NM_001161352.2(KCNMA1):c.3016+2T>C
NM_001161352.2(KCNMA1):c.3016+6G>A rs760003715
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.3017T>C (p.Val1006Ala)
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs) rs753408207
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=) rs1590247904
NM_001161352.2(KCNMA1):c.3035A>G (p.Gln1012Arg) rs2049487457
NM_001161352.2(KCNMA1):c.3054T>C (p.Asp1018=)
NM_001161352.2(KCNMA1):c.3054TGA[4] (p.Asp1021_Pro1022insAsp)
NM_001161352.2(KCNMA1):c.3066T>C (p.Pro1022=)
NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met)
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.30C>T (p.Gly10=) rs2093904313
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001161352.2(KCNMA1):c.30_56dup (p.Ser11_Gly19dup) rs1163075445
NM_001161352.2(KCNMA1):c.3117C>G (p.Ala1039=) rs544106405
NM_001161352.2(KCNMA1):c.3123T>C (p.Ser1041=)
NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe)
NM_001161352.2(KCNMA1):c.3138C>T (p.Leu1046=) rs766964098
NM_001161352.2(KCNMA1):c.3139A>G (p.Met1047Val)
NM_001161352.2(KCNMA1):c.3141G>A (p.Met1047Ile)
NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val) rs2152363692
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.3148-65_3177dup
NM_001161352.2(KCNMA1):c.3149C>T (p.Thr1050Met) rs915080941
NM_001161352.2(KCNMA1):c.3156C>T (p.Phe1052=)
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met)
NM_001161352.2(KCNMA1):c.3175C>T (p.Leu1059=)
NM_001161352.2(KCNMA1):c.3177G>C (p.Leu1059=)
NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp)
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) rs764468883
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.31AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) rs752334052
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) rs759136661
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_51dup (p.Ser11_Gly17dup) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.31_57del (p.Ser11_Gly19del)
NM_001161352.2(KCNMA1):c.320T>A (p.Leu107His)
NM_001161352.2(KCNMA1):c.3226del (p.Ile1076fs)
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)
NM_001161352.2(KCNMA1):c.3263C>A (p.Thr1088Asn)
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile) rs769712220
NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu) rs1208962527
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=) rs762760539
NM_001161352.2(KCNMA1):c.3282T>C (p.Asn1094=)
NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser)
NM_001161352.2(KCNMA1):c.3286G>A (p.Asp1096Asn)
NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys) rs2151872034
NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His)
NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val)
NM_001161352.2(KCNMA1):c.3306G>A (p.Gln1102=) rs1253872471
NM_001161352.2(KCNMA1):c.3306G>T (p.Gln1102His)
NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe) rs2151871204
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.334A>G (p.Lys112Glu)
NM_001161352.2(KCNMA1):c.3353G>T (p.Cys1118Phe)
NM_001161352.2(KCNMA1):c.336G>A (p.Lys112=)
NM_001161352.2(KCNMA1):c.336G>C (p.Lys112Asn) rs748112495
NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp)
NM_001161352.2(KCNMA1):c.33_34del (p.Ser11fs)
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.3440C>A (p.Thr1147Asn)
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile) rs1253143924
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=) rs765051720
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001161352.2(KCNMA1):c.3446G>T (p.Ser1149Ile)
NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln) rs2151796883
NM_001161352.2(KCNMA1):c.3461+17A>C rs1442317817
NM_001161352.2(KCNMA1):c.3462-9C>T
NM_001161352.2(KCNMA1):c.3467T>C (p.Val1156Ala)
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=) rs202172473
NM_001161352.2(KCNMA1):c.3480G>T (p.Pro1160=)
NM_001161352.2(KCNMA1):c.3485A>G (p.Tyr1162Cys) rs2037618919
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.349G>A (p.Val117Met) rs1257184004
NM_001161352.2(KCNMA1):c.349G>C (p.Val117Leu)
NM_001161352.2(KCNMA1):c.34_39del (p.Ser12_Gly13del) rs2093901062
NM_001161352.2(KCNMA1):c.34_39dup (p.Ser12_Gly13dup) rs2093901062
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del)
NM_001161352.2(KCNMA1):c.34_54dup (p.Gly18_Gly19insSerGlyGlyGlyGlyGlyGly)
NM_001161352.2(KCNMA1):c.352T>G (p.Cys118Gly) rs2154572103
NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp)
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg) rs549360933
NM_001161352.2(KCNMA1):c.3549C>T (p.Gly1183=)
NM_001161352.2(KCNMA1):c.354C>T (p.Cys118=) rs746678754
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys)
NM_001161352.2(KCNMA1):c.3571C>T (p.His1191Tyr) rs2151707984
NM_001161352.2(KCNMA1):c.3575C>T (p.Ser1192Phe)
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) rs1589551484
NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=)
NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu)
NM_001161352.2(KCNMA1):c.3588G>T (p.Ser1196=)
NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg)
NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys)
NM_001161352.2(KCNMA1):c.3602A>G (p.Lys1201Arg)
NM_001161352.2(KCNMA1):c.3603G>A (p.Lys1201=)
NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile)
NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe) rs2037569843
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn) rs1476399505
NM_001161352.2(KCNMA1):c.361T>C (p.Cys121Arg) rs1390486916
NM_001161352.2(KCNMA1):c.3621C>T (p.His1207=) rs1589550559
NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr)
NM_001161352.2(KCNMA1):c.362_363delinsTT (p.Cys121Phe) rs2154572100
NM_001161352.2(KCNMA1):c.3630A>G (p.Pro1210=)
NM_001161352.2(KCNMA1):c.3633C>T (p.Ser1211=)
NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala)
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser) rs1564710775
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter) rs769151229
NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys)
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp) rs201703516
NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr) rs1313181359
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly) rs199766376
NM_001161352.2(KCNMA1):c.367G>A (p.Gly123Ser) rs1246413912
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp) rs2093865429
NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter) rs199569326
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.36CGG[10] (p.Gly18_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[11] (p.Gly17_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[4] (p.Gly18_Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del)
NM_001161352.2(KCNMA1):c.36CGG[6] (p.Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del) rs1278021902
NM_001161352.2(KCNMA1):c.374C>T (p.Thr125Met) rs2154572092
NM_001161352.2(KCNMA1):c.378+10G>A
NM_001161352.2(KCNMA1):c.378+11C>T
NM_001161352.2(KCNMA1):c.378+12_378+13delinsAA
NM_001161352.2(KCNMA1):c.378+15G>T
NM_001161352.2(KCNMA1):c.378+19G>A
NM_001161352.2(KCNMA1):c.378+4A>T
NM_001161352.2(KCNMA1):c.378+5C>A rs757766830
NM_001161352.2(KCNMA1):c.378+5C>G rs757766830
NM_001161352.2(KCNMA1):c.378+742_378+743insT
NM_001161352.2(KCNMA1):c.378+767C>T
NM_001161352.2(KCNMA1):c.378+801G>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.389A>G (p.Lys130Arg)
NM_001161352.2(KCNMA1):c.394A>C (p.Asn132His)
NM_001161352.2(KCNMA1):c.396C>A (p.Asn132Lys)
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys) rs767525618
NM_001161352.2(KCNMA1):c.399T>C (p.Asn133=) rs767525618
NM_001161352.2(KCNMA1):c.411G>C (p.Gln137His) rs1171292177
NM_001161352.2(KCNMA1):c.412G>A (p.Ala138Thr)
NM_001161352.2(KCNMA1):c.418G>A (p.Gly140Ser)
NM_001161352.2(KCNMA1):c.419G>T (p.Gly140Val) rs1566617381
NM_001161352.2(KCNMA1):c.428A>C (p.Lys143Thr)
NM_001161352.2(KCNMA1):c.432A>C (p.Pro144=)
NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn)
NM_001161352.2(KCNMA1):c.441A>T (p.Glu147Asp) rs2154465169
NM_001161352.2(KCNMA1):c.447G>C (p.Glu149Asp) rs896386800
NM_001161352.2(KCNMA1):c.44G>A (p.Gly15Asp)
NM_001161352.2(KCNMA1):c.450G>A (p.Glu150=)
NM_001161352.2(KCNMA1):c.452C>T (p.Ala151Val)
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met) rs2096373042
NM_001161352.2(KCNMA1):c.455T>C (p.Val152Ala)
NM_001161352.2(KCNMA1):c.458C>T (p.Ala153Val)
NM_001161352.2(KCNMA1):c.45C>T (p.Gly15=)
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) rs142858967
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
NM_001161352.2(KCNMA1):c.466G>A (p.Val156Ile)
NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu)
NM_001161352.2(KCNMA1):c.468C>G (p.Val156=)
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_001161352.2(KCNMA1):c.46G>A (p.Gly16Ser)
NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys)
NM_001161352.2(KCNMA1):c.484G>A (p.Val162Met)
NM_001161352.2(KCNMA1):c.48_49insAGCGGCGGCGGCGGCGGC (p.Gly16_Gly17insSerGlyGlyGlyGlyGly)
NM_001161352.2(KCNMA1):c.499G>C (p.Gly167Arg) rs2096371606
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) rs886047269
NM_001161352.2(KCNMA1):c.502G>A (p.Val168Met)
NM_001161352.2(KCNMA1):c.504G>A (p.Val168=) rs2154465069
NM_001161352.2(KCNMA1):c.506T>C (p.Met169Thr) rs2154465065
NM_001161352.2(KCNMA1):c.507G>T (p.Met169Ile)
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr) rs2096371289
NM_001161352.2(KCNMA1):c.51C>T (p.Gly17=) rs2093897739
NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly)
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.541G>A (p.Val181Ile)
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.559C>G (p.Leu187Val) rs2059603910
NM_001161352.2(KCNMA1):c.55G>A (p.Gly19Arg) rs2154572188
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup) rs1350200278
NM_001161352.2(KCNMA1):c.55_63dup (p.Ser21_Ser22insGlyGlySer)
NM_001161352.2(KCNMA1):c.568G>A (p.Gly190Ser)
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile) rs2154251764
NM_001161352.2(KCNMA1):c.584A>C (p.Tyr195Ser)
NM_001161352.2(KCNMA1):c.589A>G (p.Ile197Val)
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.603-19dup rs2154127967
NM_001161352.2(KCNMA1):c.603-6T>C rs201637862
NM_001161352.2(KCNMA1):c.603-9_603-6del rs761537725
NM_001161352.2(KCNMA1):c.608T>C (p.Ile203Thr) rs2154127879
NM_001161352.2(KCNMA1):c.61A>G (p.Ser21Gly)
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) rs1598200324
NM_001161352.2(KCNMA1):c.644T>C (p.Leu215Ser)
NM_001161352.2(KCNMA1):c.646C>G (p.Gln216Glu)
NM_001161352.2(KCNMA1):c.657G>A (p.Met219Ile) rs2098835683
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val) rs7921386
NM_001161352.2(KCNMA1):c.688G>A (p.Gly230Ser)
NM_001161352.2(KCNMA1):c.68T>A (p.Leu23His)
NM_001161352.2(KCNMA1):c.690C>G (p.Gly230=) rs1467313801
NM_001161352.2(KCNMA1):c.694C>T (p.Arg232Trp)
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.700A>T (p.Ile234Phe) rs2154124891
NM_001161352.2(KCNMA1):c.712G>A (p.Asp238Asn)
NM_001161352.2(KCNMA1):c.718T>C (p.Leu240=)
NM_001161352.2(KCNMA1):c.726C>T (p.Phe242=)
NM_001161352.2(KCNMA1):c.733G>C (p.Glu245Gln)
NM_001161352.2(KCNMA1):c.735A>G (p.Glu245=)
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys) rs2098818815
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.761C>T (p.Thr254Met)
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.7A>G (p.Asn3Asp)
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg) rs2098818535
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.809G>A (p.Gly270Asp) rs1554841751
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe) rs2097580642
NM_001161352.2(KCNMA1):c.826G>C (p.Ala276Pro)
NM_001161352.2(KCNMA1):c.831G>C (p.Leu277=)
NM_001161352.2(KCNMA1):c.85A>T (p.Ile29Phe)
NM_001161352.2(KCNMA1):c.868A>C (p.Asn290His)
NM_001161352.2(KCNMA1):c.87C>G (p.Ile29Met)
NM_001161352.2(KCNMA1):c.884+13T>C
NM_001161352.2(KCNMA1):c.884+6A>T rs2097580351
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.88C>T (p.His30Tyr)
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.8A>G (p.Asn3Ser)
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.91G>A (p.Ala31Thr)
NM_001161352.2(KCNMA1):c.91G>C (p.Ala31Pro)
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser) rs1343575385
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.960+5_960+8dup
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.97C>T (p.His33Tyr) rs2093891400
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=) rs1596161285
NM_001161352.2(KCNMA1):c.996A>G (p.Gln332=)
NM_001322830.2(KCNMA1):c.3620A>G (p.Lys1207Arg)

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