ClinVar Miner

List of variants studied for muscular channelopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1626
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_000891.3(KCNJ2):c.*2752T>C rs993085233 0.04719
NM_000891.3(KCNJ2):c.*2758T>C rs1324652195 0.04554
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000891.3(KCNJ2):c.-163_-162insTC rs61077847 0.02248
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT rs58144126 0.02246
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_000540.3(RYR1):c.-69T>G rs886054377 0.00582
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_000540.3(RYR1):c.425-19A>G rs193169917 0.00289
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000540.3(RYR1):c.7836-19C>T rs201378267 0.00090
NM_000540.3(RYR1):c.14130-9T>G rs191894192 0.00088
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser) rs376505442 0.00062
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met) rs752855919 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu) rs754173025 0.00039
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00035
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00031
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486 0.00031
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00028
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp) rs141618437 0.00027
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val) rs139498212 0.00026
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000891.3(KCNJ2):c.*3536C>T rs529969829 0.00022
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) rs151218760 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro) rs576536458 0.00017
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00016
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00016
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn) rs139142846 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992 0.00015
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.2767A>G (p.Met923Val) rs149913097 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00014
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys) rs185371036 0.00014
NM_000891.3(KCNJ2):c.*1128dup rs777658732 0.00014
NM_000891.3(KCNJ2):c.*213G>A rs886053326 0.00014
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736 0.00013
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9466G>A (p.Val3156Ile) rs150230127 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val) rs755651622 0.00012
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322 0.00011
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794 0.00011
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) rs757433005 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.3774+20A>G rs377552760 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala) rs781367427 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000891.3(KCNJ2):c.*3409A>G rs551384883 0.00010
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.10824+8G>A rs374325589 0.00009
NM_000540.3(RYR1):c.1105G>A (p.Gly369Ser) rs570010656 0.00009
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys) rs143849895 0.00009
NM_000540.3(RYR1):c.1593C>T (p.Gly531=) rs927675372 0.00009
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val) rs569890286 0.00009
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) rs144474033 0.00009
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.12345A>C (p.Glu4115Asp) rs148923077 0.00008
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr) rs200286252 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000069.3(CACNA1S):c.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) rs142286187 0.00007
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) rs370661912 0.00007
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) rs199610988 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=) rs767496164 0.00007
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463 0.00007
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu) rs201054455 0.00007
NM_000540.3(RYR1):c.1475G>A (p.Arg492His) rs901087791 0.00007
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu) rs758631999 0.00007
NM_000540.3(RYR1):c.2812G>A (p.Val938Met) rs369182023 0.00007
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val) rs149096607 0.00007
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=) rs772616442 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu) rs759530203 0.00007
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946 0.00007
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile) rs377461013 0.00006
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710 0.00006
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00006
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) rs201257304 0.00006
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys) rs369430918 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.5128C>T (p.Pro1710Ser) rs762735966 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu) rs775773632 0.00006
NM_000540.3(RYR1):c.10347C>T (p.His3449=) rs373702420 0.00006
NM_000540.3(RYR1):c.10442C>T (p.Ala3481Val) rs370630840 0.00006
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408 0.00006
NM_000540.3(RYR1):c.10601C>T (p.Thr3534Met) rs146914779 0.00006
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=) rs141542477 0.00006
NM_000540.3(RYR1):c.1172G>A (p.Arg391His) rs769387053 0.00006
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly) rs201321695 0.00006
NM_000540.3(RYR1):c.12560G>A (p.Arg4187His) rs767099429 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.1479A>C (p.Leu493=) rs748552245 0.00006
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715 0.00006
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740 0.00006
NM_000540.3(RYR1):c.2594A>T (p.His865Leu) rs371862065 0.00006
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met) rs138209392 0.00006
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His) rs371498385 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) rs141379562 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=) rs369456396 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 0.00006
NM_000540.3(RYR1):c.7560C>T (p.His2520=) rs749322590 0.00006
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr) rs369194674 0.00006
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met) rs781458272 0.00006
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=) rs770942162 0.00006
NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu) rs966321446 0.00006
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys) rs754431075 0.00006
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=) rs146400205 0.00005
NM_000069.3(CACNA1S):c.1619+16G>A rs148454228 0.00005
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 0.00005
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val) rs189249768 0.00005
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu) rs528225943 0.00005
NM_000540.3(RYR1):c.2269C>T (p.Arg757Cys) rs890373465 0.00005
NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp) rs140686309 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys) rs578234912 0.00005
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln) rs146206507 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser) rs377080876 0.00005
NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys) rs202111332 0.00005
NM_000540.3(RYR1):c.767G>A (p.Arg256His) rs772767943 0.00005
NM_000540.3(RYR1):c.7699C>T (p.Pro2567Ser) rs374982449 0.00005
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His) rs145183043 0.00005
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile) rs775112172 0.00005
NM_000540.3(RYR1):c.8162C>T (p.Ser2721Phe) rs781377124 0.00005
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.1948+11G>A rs199852936 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046 0.00004
NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys) rs781178565 0.00004
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn) rs372383822 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 0.00004
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln) rs772546656 0.00004
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp) rs558855276 0.00004
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg) rs767603831 0.00004
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His) rs375403086 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00004
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His) rs769704334 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.5233C>T (p.Arg1745Cys) rs749841448 0.00004
NM_000334.4(SCN4A):c.5264G>A (p.Arg1755His) rs373278632 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met) rs201661188 0.00004
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu) rs760518441 0.00004
NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn) rs376680315 0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=) rs761930114 0.00004
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln) rs369422480 0.00004
NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met) rs371839408 0.00004
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val) rs374061380 0.00004
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His) rs145026307 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys) rs755088027 0.00004
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met) rs765758001 0.00004
NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser) rs769120898 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=) rs750757411 0.00004
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr) rs761125496 0.00004
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr) rs959143903 0.00004
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser) rs781766697 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val) rs143988412 0.00004
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys) rs753907367 0.00004
NM_000540.3(RYR1):c.1768G>T (p.Asp590Tyr) rs552148844 0.00004
NM_000540.3(RYR1):c.1955C>T (p.Ala652Val) rs757908433 0.00004
NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala) rs763679528 0.00004
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln) rs370490388 0.00004
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys) rs750233243 0.00004
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys) rs766827383 0.00004
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys) rs139006437 0.00004
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp) rs368950468 0.00004
NM_000540.3(RYR1):c.3380G>A (p.Arg1127His) rs545579559 0.00004
NM_000540.3(RYR1):c.3568G>A (p.Val1190Ile) rs749283427 0.00004
NM_000540.3(RYR1):c.3853A>G (p.Met1285Val) rs752075589 0.00004
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr) rs766147636 0.00004
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys) rs543630280 0.00004
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys) rs371777056 0.00004
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser) rs202225176 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn) rs772695891 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793 0.00004
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln) rs144526634 0.00004
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys) rs751622747 0.00004
NM_000540.3(RYR1):c.872C>T (p.Ala291Val) rs200572262 0.00004
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp) rs377541724 0.00004
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00004
NM_000891.3(KCNJ2):c.*2698T>C rs368668294 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) rs144605411 0.00004
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr) rs776209588 0.00003
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val) rs776996468 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518 0.00003
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg) rs146903750 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3610-17G>A rs368357562 0.00003
NM_000069.3(CACNA1S):c.3667-5C>T rs368885124 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) rs142144624 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) rs753195502 0.00003
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met) rs780785403 0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258 0.00003
NM_000069.3(CACNA1S):c.4543+15G>A rs746717103 0.00003
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp) rs577022740 0.00003
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.2149G>A (p.Val717Met) rs770283788 0.00003
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.3721-14C>G rs761700338 0.00003
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=) rs755256694 0.00003
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile) rs369929462 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000540.3(RYR1):c.10927A>C (p.Asn3643His) rs924687841 0.00003
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His) rs572373150 0.00003
NM_000540.3(RYR1):c.12797G>A (p.Gly4266Asp) rs1445617605 0.00003
NM_000540.3(RYR1):c.12878C>T (p.Ala4293Val) rs1223090052 0.00003
NM_000540.3(RYR1):c.13168G>C (p.Glu4390Gln) rs1413644550 0.00003
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr) rs1051206491 0.00003
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) rs752665367 0.00003
NM_000540.3(RYR1):c.13774G>A (p.Asp4592Asn) rs572103362 0.00003
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=) rs199698011 0.00003
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) rs118192153 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.1925+19G>A rs764074598 0.00003
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp) rs765445445 0.00003
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln) rs759902314 0.00003
NM_000540.3(RYR1):c.2480A>T (p.Glu827Val) rs758782788 0.00003
NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln) rs777191617 0.00003
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln) rs373541911 0.00003
NM_000540.3(RYR1):c.3128G>A (p.Arg1043His) rs374776563 0.00003
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser) rs558190898 0.00003
NM_000540.3(RYR1):c.370C>T (p.Arg124Cys) rs765121148 0.00003
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile) rs750818753 0.00003
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys) rs767382534 0.00003
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys) rs760625346 0.00003
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met) rs1318296270 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.5891G>A (p.Arg1964His) rs767487116 0.00003
NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly) rs1302216965 0.00003
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys) rs147197176 0.00003
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe) rs193922797 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.722G>A (p.Arg241His) rs552007612 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu) rs749564145 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000540.3(RYR1):c.825G>T (p.Trp275Cys) rs138687891 0.00003
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe) rs769276412 0.00003
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg) rs779410371 0.00003
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys) rs766362010 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_000540.3(RYR1):c.9860G>A (p.Arg3287His) rs756487708 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_000069.3(CACNA1S):c.1120G>A (p.Glu374Lys) rs758280510 0.00002
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) rs1051111849 0.00002
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) rs763639897 0.00002
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) rs754689047 0.00002
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His) rs553739117 0.00002
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) rs554729466 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 0.00002
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) rs751833750 0.00002
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2853+18C>T rs768391679 0.00002
NM_000069.3(CACNA1S):c.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.2854-15T>G rs1405252446 0.00002
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) rs745738564 0.00002
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met) rs1224786667 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.4502C>A (p.Thr1501Asn) rs928580339 0.00002
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) rs946904077 0.00002
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) rs191263754 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp) rs555596737 0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) rs768015104 0.00002
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly) rs201585867 0.00002
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) rs546411827 0.00002
NM_000083.3(CLCN1):c.1872del (p.Glu624fs) rs1424799320 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) rs561470261 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His) rs776665275 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.164G>A (p.Arg55Gln) rs376523210 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.2198T>C (p.Ile733Thr) rs753865616 0.00002
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg) rs1028907866 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys) rs780708338 0.00002
NM_000334.4(SCN4A):c.2802G>C (p.Glu934Asp) rs371920760 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.3442-15C>A rs763401184 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala) rs758866720 0.00002
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr) rs769365503 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000540.3(RYR1):c.10282A>G (p.Asn3428Asp) rs763976533 0.00002
NM_000540.3(RYR1):c.10489A>C (p.Lys3497Gln) rs754849970 0.00002
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr) rs376338203 0.00002
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=) rs201296563 0.00002
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr) rs777478644 0.00002
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp) rs910313832 0.00002
NM_000540.3(RYR1):c.11600G>A (p.Arg3867His) rs758651267 0.00002
NM_000540.3(RYR1):c.12322C>G (p.Gln4108Glu) rs774414325 0.00002
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr) rs193922848 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly) rs1328605630 0.00002
NM_000540.3(RYR1):c.1372T>G (p.Leu458Val) rs369932139 0.00002
NM_000540.3(RYR1):c.13933C>T (p.Arg4645Trp) rs377667641 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys) rs201147958 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.1533C>T (p.Ala511=) rs758172706 0.00002
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser) rs773211015 0.00002
NM_000540.3(RYR1):c.2780C>T (p.Thr927Met) rs751728775 0.00002
NM_000540.3(RYR1):c.2787-16A>G rs998030731 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) rs773926353 0.00002
NM_000540.3(RYR1):c.4004G>A (p.Arg1335His) rs750256869 0.00002
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560 0.00002
NM_000540.3(RYR1):c.424+4C>A rs772775579 0.00002
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000 0.00002
NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg) rs759947063 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.4678G>A (p.Val1560Ile) rs767230160 0.00002
NM_000540.3(RYR1):c.4924G>A (p.Glu1642Lys) rs1041070277 0.00002
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn) rs755878800 0.00002
NM_000540.3(RYR1):c.6274C>T (p.Arg2092Trp) rs772164452 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys) rs554066182 0.00002
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp) rs761154999 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His) rs768343466 0.00002
NM_000540.3(RYR1):c.7631C>G (p.Thr2544Ser) rs146326299 0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) rs751180702 0.00002
NM_000540.3(RYR1):c.7897C>G (p.Leu2633Val) rs757228479 0.00002
NM_000540.3(RYR1):c.8137G>A (p.Asp2713Asn) rs765571437 0.00002
NM_000540.3(RYR1):c.8921T>C (p.Ile2974Thr) rs1020896447 0.00002
NM_000540.3(RYR1):c.907G>A (p.Ala303Thr) rs141764906 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_000069.3(CACNA1S):c.1132G>A (p.Val378Ile) rs577240103 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1526T>C (p.Leu509Pro) rs369852385 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe) rs772213240 0.00001
NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser) rs376841055 0.00001
NM_000069.3(CACNA1S):c.1793A>T (p.Asp598Val) rs749475822 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser) rs766576671 0.00001
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) rs1347247620 0.00001
NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) rs757750396 0.00001
NM_000069.3(CACNA1S):c.1A>G (p.Met1Val) rs201803122 0.00001
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) rs774585202 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys) rs777247285 0.00001
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser) rs752667224 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr) rs550479246 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) rs749706205 0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) rs757165791 0.00001
NM_000069.3(CACNA1S):c.3173A>G (p.Asn1058Ser) rs777876303 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3419A>G (p.Tyr1140Cys) rs1043042231 0.00001
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg) rs776908038 0.00001
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956 0.00001
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) rs1262731998 0.00001
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) rs563795648 0.00001
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) rs756438139 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4242-4G>A rs780264366 0.00001
NM_000069.3(CACNA1S):c.4255C>T (p.His1419Tyr) rs1346780583 0.00001
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.4411G>T (p.Val1471Phe) rs1304704158 0.00001
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158 0.00001
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln) rs891244994 0.00001
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) rs1413666626 0.00001
NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser) rs147007610 0.00001
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) rs771065920 0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) rs750087191 0.00001
NM_000069.3(CACNA1S):c.541+18T>A rs760602154 0.00001
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598 0.00001
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) rs376321837 0.00001
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086 0.00001
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525 0.00001
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp) rs753308829 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.147G>C (p.Glu49Asp) rs781147290 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=) rs373819078 0.00001
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr) rs552714913 0.00001
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) rs1415316385 0.00001
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala) rs1289461335 0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=) rs1208231013 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr) rs372436021 0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=) rs543151915 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.2609C>T (p.Ala870Val) rs764806517 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 0.00001
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3061C>T (p.Arg1021Cys) rs774176490 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142 0.00001
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val) rs201152347 0.00001
NM_000334.4(SCN4A):c.3441+4G>A rs765176007 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe) rs776750130 0.00001
NM_000334.4(SCN4A):c.393-1C>T rs1199378574 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4168A>T (p.Met1390Leu) rs754311975 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 0.00001
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln) rs962610601 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr) rs778417596 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.4706G>T (p.Gly1569Val) rs373017435 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4827C>T (p.Ser1609=) rs376689238 0.00001
NM_000334.4(SCN4A):c.4882G>A (p.Asp1628Asn) rs1004398583 0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.4915C>G (p.Arg1639Gly) rs776231847 0.00001
NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn) rs1345007864 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 0.00001
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr) rs963907287 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu) rs751884584 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000540.3(RYR1):c.10034T>C (p.Ile3345Thr) rs757271636 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln) rs538500669 0.00001
NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys) rs1971294742 0.00001
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser) rs371645169 0.00001
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro) rs138324438 0.00001
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu) rs1009040238 0.00001
NM_000540.3(RYR1):c.10735G>A (p.Val3579Ile) rs764650501 0.00001
NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser) rs367995800 0.00001
NM_000540.3(RYR1):c.11193+3G>A rs886054400 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.1204A>G (p.Met402Val) rs766763626 0.00001
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe) rs763042731 0.00001
NM_000540.3(RYR1):c.12250C>T (p.Arg4084Cys) rs755879946 0.00001
NM_000540.3(RYR1):c.12314C>G (p.Pro4105Arg) rs1309530680 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.12599A>T (p.Asn4200Ile) rs199660276 0.00001
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg) rs757438220 0.00001
NM_000540.3(RYR1):c.12962G>A (p.Arg4321Gln) rs1313365429 0.00001
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser) rs1568583100 0.00001
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr) rs1337566743 0.00001
NM_000540.3(RYR1):c.13165G>A (p.Asp4389Asn) rs774812209 0.00001
NM_000540.3(RYR1):c.13234G>A (p.Ala4412Thr) rs759639541 0.00001
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu) rs138929547 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp) rs1057520187 0.00001
NM_000540.3(RYR1):c.13885G>A (p.Val4629Met) rs752668333 0.00001
NM_000540.3(RYR1):c.14041A>C (p.Lys4681Gln) rs1912187896 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val) rs763466452 0.00001
NM_000540.3(RYR1):c.1418G>A (p.Arg473His) rs538087438 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14869-5C>G rs1199304403 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.15022-14A>G rs1355487795 0.00001
NM_000540.3(RYR1):c.1518A>G (p.Ala506=) rs1488570862 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys) rs757284447 0.00001
NM_000540.3(RYR1):c.1967C>T (p.Thr656Met) rs4802472 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys) rs144845360 0.00001
NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser) rs866990461 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp) rs371050482 0.00001
NM_000540.3(RYR1):c.2870C>T (p.Thr957Met) rs201827275 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.2931G>A (p.Thr977=) rs771471004 0.00001
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804 0.00001
NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln) rs781550981 0.00001
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser) rs990842315 0.00001
NM_000540.3(RYR1):c.3164C>G (p.Pro1055Arg) rs1254584171 0.00001
NM_000540.3(RYR1):c.3215G>A (p.Arg1072His) rs757261781 0.00001
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His) rs764009626 0.00001
NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser) rs377285238 0.00001
NM_000540.3(RYR1):c.3382G>A (p.Gly1128Ser) rs773310568 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg) rs754104129 0.00001
NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys) rs745920741 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376 0.00001
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His) rs150499158 0.00001
NM_000540.3(RYR1):c.4293G>A (p.Thr1431=) rs727504130 0.00001
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile) rs747718728 0.00001
NM_000540.3(RYR1):c.46-5C>T rs774388278 0.00001
NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala) rs1386118815 0.00001
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro) rs780420237 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys) rs774316371 0.00001
NM_000540.3(RYR1):c.4853G>A (p.Arg1618His) rs957392274 0.00001
NM_000540.3(RYR1):c.488G>A (p.Arg163His) rs193922753 0.00001
NM_000540.3(RYR1):c.5009G>A (p.Arg1670His) rs1248039154 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) rs761616815 0.00001
NM_000540.3(RYR1):c.5273C>T (p.Pro1758Leu) rs371317448 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 0.00001
NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp) rs1043076830 0.00001
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr) rs886054379 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr) rs1186616874 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=) rs138617219 0.00001
NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys) rs750951875 0.00001
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu) rs759306349 0.00001
NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys) rs751654689 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys) rs923613797 0.00001
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu) rs776163386 0.00001
NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile) rs1471770301 0.00001
NM_000540.3(RYR1):c.7700C>T (p.Pro2567Leu) rs768399513 0.00001
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile) rs193922824 0.00001
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645 0.00001
NM_000540.3(RYR1):c.7843C>T (p.Arg2615Cys) rs1222041246 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu) rs568662364 0.00001
NM_000540.3(RYR1):c.8090G>A (p.Arg2697His) rs1254090942 0.00001
NM_000540.3(RYR1):c.8213G>A (p.Arg2738Gln) rs766961940 0.00001
NM_000540.3(RYR1):c.82C>T (p.Leu28Phe) rs1242495143 0.00001
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00001
NM_000540.3(RYR1):c.847C>T (p.His283Tyr) rs753985252 0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00001
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu) rs1377413977 0.00001
NM_000540.3(RYR1):c.9101A>C (p.Lys3034Thr) rs754966992 0.00001
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His) rs1414706865 0.00001
NM_000540.3(RYR1):c.929C>T (p.Ala310Val) rs966781989 0.00001
NM_000540.3(RYR1):c.9305A>G (p.Asp3102Gly) rs1970766556 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg) rs370851939 0.00001
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp) rs1376794459 0.00001
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232 0.00001
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met) rs771264217 0.00001
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly) rs529012478 0.00001
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) rs750630010 0.00001
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) rs371331394 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) rs1261477163 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) rs1555604000 0.00001
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) rs1389959147 0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) rs761969118 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_000069.3(CACNA1S):c.1112del (p.Thr371fs)
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) rs1174671318
NM_000069.3(CACNA1S):c.1138G>A (p.Asp380Asn)
NM_000069.3(CACNA1S):c.1150+3T>C rs770379814
NM_000069.3(CACNA1S):c.1150+6G>T
NM_000069.3(CACNA1S):c.1160C>G (p.Ser387Cys)
NM_000069.3(CACNA1S):c.1188G>C (p.Glu396Asp)
NM_000069.3(CACNA1S):c.1190G>T (p.Ser397Ile)
NM_000069.3(CACNA1S):c.11C>T (p.Ser4Phe)
NM_000069.3(CACNA1S):c.1205C>A (p.Ala402Glu)
NM_000069.3(CACNA1S):c.1218A>T (p.Lys406Asn)
NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu)
NM_000069.3(CACNA1S):c.1273T>G (p.Cys425Gly)
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1354G>A (p.Glu452Lys)
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1395del (p.Asp465fs)
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) rs1235626524
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165
NM_000069.3(CACNA1S):c.1483A>G (p.Ile495Val)
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) rs772738139
NM_000069.3(CACNA1S):c.1511T>G (p.Val504Gly)
NM_000069.3(CACNA1S):c.1514G>A (p.Cys505Tyr)
NM_000069.3(CACNA1S):c.1598T>C (p.Leu533Pro)
NM_000069.3(CACNA1S):c.1619+4A>C
NM_000069.3(CACNA1S):c.1619+4A>G
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) rs569061608
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) rs549107212
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1754A>C (p.Tyr585Ser)
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) rs762032797
NM_000069.3(CACNA1S):c.1785C>T (p.Ser595=)
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1862A>G (p.Tyr621Cys)
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
NM_000069.3(CACNA1S):c.1906C>T (p.Leu636Phe)
NM_000069.3(CACNA1S):c.191A>G (p.Asn64Ser)
NM_000069.3(CACNA1S):c.1961A>G (p.Asn654Ser)
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.2057T>C (p.Met686Thr) rs1661536110
NM_000069.3(CACNA1S):c.2063+16G>A
NM_000069.3(CACNA1S):c.2063A>G (p.Lys688Arg)
NM_000069.3(CACNA1S):c.2086GAG[1] (p.Glu697del) rs1225367412
NM_000069.3(CACNA1S):c.2144C>T (p.Pro715Leu)
NM_000069.3(CACNA1S):c.2188A>G (p.Asn730Asp)
NM_000069.3(CACNA1S):c.2257C>T (p.Pro753Ser)
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) rs868409473
NM_000069.3(CACNA1S):c.2311G>T (p.Val771Leu)
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)
NM_000069.3(CACNA1S):c.2343C>G (p.Ile781Met)
NM_000069.3(CACNA1S):c.2360A>T (p.Lys787Met)
NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=)
NM_000069.3(CACNA1S):c.2399G>T (p.Trp800Leu)
NM_000069.3(CACNA1S):c.240C>G (p.Asn80Lys)
NM_000069.3(CACNA1S):c.2424C>A (p.Phe808Leu)
NM_000069.3(CACNA1S):c.2443G>A (p.Ala815Thr)
NM_000069.3(CACNA1S):c.245T>C (p.Leu82Pro)
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
NM_000069.3(CACNA1S):c.250C>T (p.Leu84Phe)
NM_000069.3(CACNA1S):c.2558C>T (p.Thr853Ile)
NM_000069.3(CACNA1S):c.258+2T>C
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2658-2A>C
NM_000069.3(CACNA1S):c.2745+3G>A
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2756A>G (p.Gln919Arg)
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2903G>T (p.Cys968Phe)
NM_000069.3(CACNA1S):c.2908G>A (p.Gly970Ser)
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)
NM_000069.3(CACNA1S):c.2970G>C (p.Trp990Cys)
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)
NM_000069.3(CACNA1S):c.2991C>A (p.Phe997Leu)
NM_000069.3(CACNA1S):c.3011T>C (p.Met1004Thr)
NM_000069.3(CACNA1S):c.3040G>C (p.Glu1014Gln) rs776712220
NM_000069.3(CACNA1S):c.3056T>A (p.Leu1019Gln)
NM_000069.3(CACNA1S):c.3076_3090del (p.Ser1026_Asp1030del)
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr) rs562504992
NM_000069.3(CACNA1S):c.3140T>C (p.Ile1047Thr)
NM_000069.3(CACNA1S):c.3203T>G (p.Phe1068Cys)
NM_000069.3(CACNA1S):c.320C>T (p.Ala107Val)
NM_000069.3(CACNA1S):c.3244G>A (p.Asp1082Asn)
NM_000069.3(CACNA1S):c.3244G>T (p.Asp1082Tyr)
NM_000069.3(CACNA1S):c.3255+10C>T rs1572035084
NM_000069.3(CACNA1S):c.3256-17T>A
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)
NM_000069.3(CACNA1S):c.3274G>A (p.Ala1092Thr)
NM_000069.3(CACNA1S):c.3284C>T (p.Ala1095Val)
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)
NM_000069.3(CACNA1S):c.3326dup (p.Tyr1109Ter)
NM_000069.3(CACNA1S):c.3397A>G (p.Ile1133Val)
NM_000069.3(CACNA1S):c.3427T>C (p.Ser1143Pro)
NM_000069.3(CACNA1S):c.3461A>C (p.Asn1154Thr)
NM_000069.3(CACNA1S):c.346G>A (p.Ala116Thr)
NM_000069.3(CACNA1S):c.3511G>A (p.Ala1171Thr)
NM_000069.3(CACNA1S):c.3559T>G (p.Phe1187Val)
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His) rs749588662
NM_000069.3(CACNA1S):c.3595C>T (p.Leu1199Phe)
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
NM_000069.3(CACNA1S):c.3632G>A (p.Gly1211Glu)
NM_000069.3(CACNA1S):c.3667-3C>T
NM_000069.3(CACNA1S):c.3667-5C>G
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3698C>A (p.Ala1233Asp)
NM_000069.3(CACNA1S):c.3707G>T (p.Arg1236Leu)
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3757G>C (p.Val1253Leu)
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3764C>T (p.Thr1255Ile)
NM_000069.3(CACNA1S):c.3786G>C (p.Lys1262Asn)
NM_000069.3(CACNA1S):c.3796G>T (p.Ala1266Ser)
NM_000069.3(CACNA1S):c.3806A>G (p.Tyr1269Cys)
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3850A>G (p.Ile1284Val)
NM_000069.3(CACNA1S):c.3858G>C (p.Met1286Ile)
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.3908A>G (p.Asn1303Ser)
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.4099C>T (p.Leu1367Phe)
NM_000069.3(CACNA1S):c.4107C>T (p.Ala1369=)
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+2T>C
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.4150T>A (p.Phe1384Ile)
NM_000069.3(CACNA1S):c.4168G>T (p.Asp1390Tyr)
NM_000069.3(CACNA1S):c.4171T>A (p.Trp1391Arg) rs200062688
NM_000069.3(CACNA1S):c.4172G>T (p.Trp1391Leu)
NM_000069.3(CACNA1S):c.4199A>T (p.Asp1400Val)
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)
NM_000069.3(CACNA1S):c.4359G>T (p.Met1453Ile)
NM_000069.3(CACNA1S):c.4388T>C (p.Phe1463Ser)
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)
NM_000069.3(CACNA1S):c.451C>G (p.Pro151Ala)
NM_000069.3(CACNA1S):c.4543+5G>A
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) rs995172326
NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr) rs760097708
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His) rs774256022
NM_000069.3(CACNA1S):c.4637A>G (p.Tyr1546Cys)
NM_000069.3(CACNA1S):c.4656T>G (p.Ile1552Met)
NM_000069.3(CACNA1S):c.4664T>C (p.Ile1555Thr)
NM_000069.3(CACNA1S):c.4678C>G (p.Arg1560Gly)
NM_000069.3(CACNA1S):c.4798-7C>A
NM_000069.3(CACNA1S):c.4841G>A (p.Arg1614Lys)
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)
NM_000069.3(CACNA1S):c.4860del (p.Val1621fs)
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)
NM_000069.3(CACNA1S):c.4933G>C (p.Glu1645Gln)
NM_000069.3(CACNA1S):c.4940T>C (p.Phe1647Ser) rs2102547613
NM_000069.3(CACNA1S):c.4941C>A (p.Phe1647Leu)
NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) rs772130841
NM_000069.3(CACNA1S):c.4955G>C (p.Arg1652Pro)
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.5049-12C>G
NM_000069.3(CACNA1S):c.5054A>G (p.His1685Arg)
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) rs1660204682
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.5134+15T>C
NM_000069.3(CACNA1S):c.5182C>G (p.Gln1728Glu)
NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)
NM_000069.3(CACNA1S):c.5219C>T (p.Pro1740Leu)
NM_000069.3(CACNA1S):c.5251C>A (p.Pro1751Thr)
NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) rs571114435
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5300C>T (p.Pro1767Leu)
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) rs1255660415
NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)
NM_000069.3(CACNA1S):c.535G>A (p.Val179Met)
NM_000069.3(CACNA1S):c.5370+1del
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.541+3G>T
NM_000069.3(CACNA1S):c.5419A>T (p.Ile1807Phe)
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5459T>C (p.Met1820Thr)
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn) rs373693197
NM_000069.3(CACNA1S):c.5504G>A (p.Gly1835Glu)
NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter)
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424
NM_000069.3(CACNA1S):c.5585_5602del (p.Gln1862_Thr1867del)
NM_000069.3(CACNA1S):c.5602C>T (p.Leu1868Phe)
NM_000069.3(CACNA1S):c.724C>T (p.Pro242Ser)
NM_000069.3(CACNA1S):c.731C>A (p.Pro244His)
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)
NM_000069.3(CACNA1S):c.83C>G (p.Pro28Arg)
NM_000069.3(CACNA1S):c.858_860dup (p.Tyr286_Gln287insHis) rs2102160234
NM_000069.3(CACNA1S):c.872T>C (p.Met291Thr)
NM_000069.3(CACNA1S):c.887A>T (p.Asp296Val)
NM_000069.3(CACNA1S):c.900+5G>A
NM_000069.3(CACNA1S):c.932G>T (p.Trp311Leu)
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) rs1802715644
NM_000083.3(CLCN1):c.122del (p.Gly41fs) rs1802291231
NM_000083.3(CLCN1):c.1247_1251+8del
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1582+5G>A
NM_000083.3(CLCN1):c.1592del (p.Ala531fs)
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.160_176del (p.His54fs)
NM_000083.3(CLCN1):c.180+1G>A
NM_000083.3(CLCN1):c.180+2_180+8del
NM_000083.3(CLCN1):c.202C>T (p.Gln68Ter)
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.297T>A (p.Cys99Ter)
NM_000083.3(CLCN1):c.302-1G>A rs529377088
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.316del (p.Leu106fs)
NM_000083.3(CLCN1):c.346del (p.Glu116fs)
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) rs771532474
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.559del (p.Val187fs)
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.702del (p.Phe235fs)
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
NM_000083.3(CLCN1):c.902dup (p.Asn301fs)
NM_000083.3(CLCN1):c.909dup (p.Arg304fs)
NM_000083.3(CLCN1):c.91_106del (p.Thr31fs)
NM_000083.3(CLCN1):c.942_960del (p.Phe314fs)
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000334.4(SCN4A):c.*1C>T
NM_000334.4(SCN4A):c.-5C>T
NM_000334.4(SCN4A):c.1030G>A (p.Asp344Asn)
NM_000334.4(SCN4A):c.1043dup (p.Tyr349fs)
NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)
NM_000334.4(SCN4A):c.1121A>C (p.Glu374Ala)
NM_000334.4(SCN4A):c.1132A>G (p.Thr378Ala) rs2144807432
NM_000334.4(SCN4A):c.1138C>T (p.Arg380Trp)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1242+6G>T
NM_000334.4(SCN4A):c.1250G>A (p.Arg417Gln)
NM_000334.4(SCN4A):c.1270A>G (p.Met424Val)
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1301G>C (p.Gly434Ala)
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.1339G>A (p.Ala447Thr)
NM_000334.4(SCN4A):c.1362T>A (p.Asn454Lys)
NM_000334.4(SCN4A):c.1366G>A (p.Ala456Thr)
NM_000334.4(SCN4A):c.1380G>A (p.Glu460=)
NM_000334.4(SCN4A):c.1393GAG[2] (p.Glu467del)
NM_000334.4(SCN4A):c.1438G>C (p.Glu480Gln)
NM_000334.4(SCN4A):c.1452+1G>T
NM_000334.4(SCN4A):c.1480G>A (p.Gly494Arg)
NM_000334.4(SCN4A):c.1505A>G (p.His502Arg)
NM_000334.4(SCN4A):c.1533C>A (p.Asp511Glu)
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu) rs778649637
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1607A>T (p.Glu536Val)
NM_000334.4(SCN4A):c.1619C>T (p.Ala540Val)
NM_000334.4(SCN4A):c.1636C>T (p.Pro546Ser)
NM_000334.4(SCN4A):c.1666C>T (p.Leu556Phe)
NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.1758C>G (p.Ile586Met)
NM_000334.4(SCN4A):c.1823A>G (p.Asn608Ser)
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
NM_000334.4(SCN4A):c.188A>G (p.Asn63Ser)
NM_000334.4(SCN4A):c.1897G>T (p.Asp633Tyr)
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.2214C>A (p.Asn738Lys)
NM_000334.4(SCN4A):c.2222G>A (p.Arg741His)
NM_000334.4(SCN4A):c.2297T>C (p.Met766Thr)
NM_000334.4(SCN4A):c.2303A>G (p.Asp768Gly)
NM_000334.4(SCN4A):c.2375T>C (p.Val792Ala)
NM_000334.4(SCN4A):c.2377-1G>A
NM_000334.4(SCN4A):c.2377-9A>C
NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2482C>A (p.Arg828Ser)
NM_000334.4(SCN4A):c.2575G>A (p.Gly859Arg)
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5]) rs768289095
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2689A>G (p.Met897Val)
NM_000334.4(SCN4A):c.2690T>A (p.Met897Lys) rs370879135
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr) rs370879135
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.274-20C>G
NM_000334.4(SCN4A):c.283G>A (p.Val95Ile)
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2912A>G (p.Lys971Arg)
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.2960G>A (p.Gly987Glu)
NM_000334.4(SCN4A):c.2968C>A (p.Pro990Thr)
NM_000334.4(SCN4A):c.3037C>G (p.Arg1013Gly)
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3046A>C (p.Lys1016Gln)
NM_000334.4(SCN4A):c.3050G>C (p.Trp1017Ser)
NM_000334.4(SCN4A):c.3095G>C (p.Trp1032Ser)
NM_000334.4(SCN4A):c.3096G>T (p.Trp1032Cys)
NM_000334.4(SCN4A):c.3110T>C (p.Ile1037Thr)
NM_000334.4(SCN4A):c.3163A>C (p.Ile1055Leu)
NM_000334.4(SCN4A):c.3203C>T (p.Ala1068Val)
NM_000334.4(SCN4A):c.3253G>T (p.Val1085Leu)
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3284A>G (p.Asn1095Ser)
NM_000334.4(SCN4A):c.3310A>G (p.Ile1104Val)
NM_000334.4(SCN4A):c.3313G>A (p.Val1105Met) rs756884948
NM_000334.4(SCN4A):c.3333C>G (p.Ser1111Arg)
NM_000334.4(SCN4A):c.3377A>G (p.Lys1126Arg)
NM_000334.4(SCN4A):c.3380C>T (p.Ser1127Phe)
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3424C>G (p.Arg1142Gly)
NM_000334.4(SCN4A):c.343A>G (p.Ser115Gly)
NM_000334.4(SCN4A):c.3442-10T>A
NM_000334.4(SCN4A):c.3454G>A (p.Ala1152Thr)
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.3578C>T (p.Thr1193Ile)
NM_000334.4(SCN4A):c.3623A>G (p.Glu1208Gly)
NM_000334.4(SCN4A):c.3628G>C (p.Glu1210Gln)
NM_000334.4(SCN4A):c.3633C>A (p.Ser1211Arg)
NM_000334.4(SCN4A):c.3636C>T (p.Leu1212=)
NM_000334.4(SCN4A):c.3637A>T (p.Met1213Leu)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.3732G>A (p.Lys1244=)
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.383T>A (p.Leu128His)
NM_000334.4(SCN4A):c.3872T>A (p.Ile1291Asn)
NM_000334.4(SCN4A):c.3891C>T (p.Asn1297=)
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.3986A>G (p.Lys1329Arg)
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.412A>G (p.Met138Val)
NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4223G>A (p.Arg1408His)
NM_000334.4(SCN4A):c.4305C>T (p.Asp1435=)
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.4538T>C (p.Ile1513Thr)
NM_000334.4(SCN4A):c.4549T>A (p.Phe1517Ile)
NM_000334.4(SCN4A):c.4558G>A (p.Glu1520Lys) rs898253712
NM_000334.4(SCN4A):c.4573A>G (p.Ser1525Gly)
NM_000334.4(SCN4A):c.4621C>A (p.Leu1541Ile)
NM_000334.4(SCN4A):c.4665del (p.Asn1556fs)
NM_000334.4(SCN4A):c.4668C>G (p.Asn1556Lys)
NM_000334.4(SCN4A):c.4678C>T (p.Pro1560Ser)
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.4754C>T (p.Ser1585Phe)
NM_000334.4(SCN4A):c.4764C>G (p.Ile1588Met)
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-3dup rs753162147
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.4831C>A (p.Pro1611Thr)
NM_000334.4(SCN4A):c.4837G>C (p.Gly1613Arg)
NM_000334.4(SCN4A):c.4886C>A (p.Pro1629His)
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690
NM_000334.4(SCN4A):c.4916G>T (p.Arg1639Leu)
NM_000334.4(SCN4A):c.4930G>T (p.Val1644Leu)
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4955G>T (p.Arg1652Met)
NM_000334.4(SCN4A):c.5009C>T (p.Pro1670Leu)
NM_000334.4(SCN4A):c.5061_5062insAGGTGACT (p.Leu1688delinsArgTer)
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5146G>A (p.Glu1716Lys)
NM_000334.4(SCN4A):c.5152A>G (p.Ile1718Val)
NM_000334.4(SCN4A):c.5156C>A (p.Thr1719Asn)
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg) rs1567815888
NM_000334.4(SCN4A):c.5192C>T (p.Ala1731Val)
NM_000334.4(SCN4A):c.51G>T (p.Leu17Phe)
NM_000334.4(SCN4A):c.5210C>T (p.Ala1737Val)
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys) rs758293600
NM_000334.4(SCN4A):c.5297C>T (p.Pro1766Leu)
NM_000334.4(SCN4A):c.5327T>C (p.Met1776Thr)
NM_000334.4(SCN4A):c.5359AGC[1] (p.Ser1789del)
NM_000334.4(SCN4A):c.5398G>A (p.Asp1800Asn)
NM_000334.4(SCN4A):c.5398G>T (p.Asp1800Tyr)
NM_000334.4(SCN4A):c.5420_5425del6 rs781515976
NM_000334.4(SCN4A):c.5431_5434dup (p.Pro1812fs)
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000334.4(SCN4A):c.5468C>T (p.Pro1823Leu)
NM_000334.4(SCN4A):c.5474A>T (p.Gln1825Leu)
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala) rs772628295
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
NM_000334.4(SCN4A):c.641A>G (p.Asn214Ser)
NM_000334.4(SCN4A):c.721G>C (p.Gly241Arg)
NM_000334.4(SCN4A):c.788T>C (p.Val263Ala)
NM_000334.4(SCN4A):c.870_878del (p.Asn291_Thr293del)
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.881G>A (p.Trp294Ter)
NM_000334.4(SCN4A):c.886_903dup (p.Ser296_Tyr301dup) rs769414184
NM_000334.4(SCN4A):c.897GTGGTACGGCAATGACAC[3] (p.Asn309_Glu310insAspThrTrpTyrGlyAsnAspThrTrpTyrGlyAsn)
NM_000334.4(SCN4A):c.936G>A (p.Trp312Ter)
NM_000334.4(SCN4A):c.940G>A (p.Gly314Ser)
NM_000334.4(SCN4A):c.944A>G (p.Asn315Ser)
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000540.3(RYR1):c.-74A>C rs886054375
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp) rs147058802
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)
NM_000540.3(RYR1):c.11014C>A (p.Arg3672Ser) rs765145018
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del) rs745569223
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr) rs377558801
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala) rs2145320724
NM_000540.3(RYR1):c.12013-18C>A rs377516769
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12095-2A>G
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu) rs1568562966
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile) rs1568575693
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12585G>T (p.Glu4195Asp) rs982601268
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser) rs199660276
NM_000540.3(RYR1):c.12754G>C (p.Glu4252Gln) rs1973328675
NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1]) rs746833347
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3]) rs746833347
NM_000540.3(RYR1):c.12787G>A (p.Glu4263Lys) rs1471120810
NM_000540.3(RYR1):c.12803_12817del (p.Ala4268_Ala4272del) rs938670458
NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup) rs1339923680
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=) rs1184700540
NM_000540.3(RYR1):c.12907C>T (p.Arg4303Trp) rs1027792397
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1]) rs193922846
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.1297A>G (p.Thr433Ala)
NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3]) rs1036726331
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.3(RYR1):c.13060G>A (p.Ala4354Thr) rs1214553487
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13104G>A (p.Val4368=) rs1357186643
NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys) rs1413644550
NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg) rs1183376732
NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr) rs1973378079
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup) rs1358102336
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.3(RYR1):c.13409G>T (p.Gly4470Val) rs1261297305
NM_000540.3(RYR1):c.13437+14C>T rs771599721
NM_000540.3(RYR1):c.13467AGAGCC[3] (p.4489PE[6]) rs751816707
NM_000540.3(RYR1):c.13471C>G (p.Pro4491Ala)
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His) rs145167688
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg) rs145167688
NM_000540.3(RYR1):c.13579C>T (p.Pro4527Ser) rs1049222611
NM_000540.3(RYR1):c.13616G>A (p.Gly4539Asp) rs1599641292
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala) rs200002274
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu) rs1049117716
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg) rs1456212776
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14304-6C>A rs794728693
NM_000540.3(RYR1):c.14364+1G>T rs1974046221
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=) rs536148030
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe) rs750009277
NM_000540.3(RYR1):c.161C>A (p.Ala54Glu) rs1032364286
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser) rs1316726339
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2384G>A (p.Arg795His) rs201635585
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg) rs186983396
NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro) rs1555772266
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys) rs201401814
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala) rs143331857
NM_000540.3(RYR1):c.3124G>A (p.Val1042Met) rs540088339
NM_000540.3(RYR1):c.3382-1G>A
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp) rs546323484
NM_000540.3(RYR1):c.3505A>G (p.Met1169Val) rs139069946
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser) rs1568465251
NM_000540.3(RYR1):c.3658G>A (p.Glu1220Lys) rs757687986
NM_000540.3(RYR1):c.3946C>T (p.Pro1316Ser) rs200894780
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4066G>A (p.Ala1356Thr) rs933347966
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp) rs35869497
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.3(RYR1):c.4589C>G (p.Ala1530Gly)
NM_000540.3(RYR1):c.4592A>G (p.Asn1531Ser) rs1968860939
NM_000540.3(RYR1):c.46-4G>A rs201094741
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) rs1182258955
NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser) rs1568484483
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) rs377476955
NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu) rs1335007839
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=) rs1193082244
NM_000540.3(RYR1):c.6284A>C (p.Gln2095Pro) rs1369035565
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.6304G>T (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala) rs769650157
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys) rs772803714
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)
NM_000540.3(RYR1):c.7243C>G (p.Arg2415Gly) rs368013861
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys) rs1970183094
NM_000540.3(RYR1):c.7729A>G (p.Ile2577Val) rs567321458
NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly) rs770719689
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.7888G>C (p.Val2630Leu) rs193922825
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del) rs767722812
NM_000540.3(RYR1):c.8541+1del
NM_000540.3(RYR1):c.859G>A (p.Gly287Arg) rs201292282
NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp) rs759514075
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.3(RYR1):c.9001-15C>A rs372702492
NM_000540.3(RYR1):c.9007C>G (p.Leu3003Val) rs1970687243
NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe) rs1970687243
NM_000540.3(RYR1):c.9277C>T (p.Arg3093Cys) rs1064797039
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu) rs193922833
NM_000540.3(RYR1):c.947G>A (p.Arg316His) rs193922761
NM_000540.3(RYR1):c.9603G>A (p.Met3201Ile) rs373611044
NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)
NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu) rs201588259
NM_000540.3(RYR1):c.985G>A (p.Asp329Asn) rs1966919745
NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys) rs112151058
NM_000540.3(RYR1):c.9886del (p.Leu3296fs)
NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser) rs2145682498
NM_000891.3(KCNJ2):c.*10del rs750011371
NM_000891.3(KCNJ2):c.*2270G>T rs545863243
NM_000891.3(KCNJ2):c.*2663T>C rs886053338
NM_000891.3(KCNJ2):c.*2775dup rs35656864
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) rs2144376499
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala) rs201162707
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1055+2T>G
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.5(CNGB3):c.127C>T (p.Gln43Ter)
NM_019098.5(CNGB3):c.129+1G>A
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.5(CNGB3):c.1430_1431delinsC rs1554610279
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1662+2T>C
NM_019098.5(CNGB3):c.1663-5T>G rs964530890
NM_019098.5(CNGB3):c.1870del (p.Leu624fs)
NM_019098.5(CNGB3):c.1929-2A>G rs1057517388
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter) rs1052078370
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.2103+1G>T
NM_019098.5(CNGB3):c.2143G>T (p.Glu715Ter)
NM_019098.5(CNGB3):c.2164G>T (p.Glu722Ter)
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs) rs1821654702
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.5(CNGB3):c.238G>T (p.Gly80Ter)
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.5(CNGB3):c.494-1G>A
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019098.5(CNGB3):c.643+1G>A
NM_019098.5(CNGB3):c.662G>A (p.Trp221Ter)
NM_019098.5(CNGB3):c.798T>G (p.Tyr266Ter)
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.839dup (p.Gly281fs) rs1281085210
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161

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