ClinVar Miner

List of variants reported as uncertain significance for neonatal-onset developmental and epileptic encephalopathy

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3566
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_015192.4(PLCB1):c.-330C>T rs532302075 0.00673
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_015192.4(PLCB1):c.*158T>A rs41275592 0.00287
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.*991A>C rs139726114 0.00202
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_015192.4(PLCB1):c.1678+10C>T rs369652433 0.00131
NM_015192.4(PLCB1):c.1336-13T>C rs185405599 0.00126
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_015192.4(PLCB1):c.-168G>A rs548635433 0.00108
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_015192.4(PLCB1):c.*2847T>A rs551121948 0.00061
NM_015192.4(PLCB1):c.*3046A>C rs557097380 0.00059
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) rs772789381 0.00055
NM_015192.4(PLCB1):c.*1644T>C rs193061195 0.00051
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734 0.00037
NM_015192.4(PLCB1):c.*2565G>A rs566701784 0.00037
NM_020708.5(SLC12A5):c.286C>T (p.Arg96Cys) rs145700012 0.00035
NM_015192.4(PLCB1):c.*1724G>A rs546143014 0.00034
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706 0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842 0.00033
NM_015192.4(PLCB1):c.*2789G>A rs188626146 0.00033
NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser) rs138077430 0.00032
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) rs201525976 0.00032
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_015192.4(PLCB1):c.*1871G>A rs200559753 0.00027
NM_015509.4(NECAP1):c.251C>T (p.Thr84Met) rs137964265 0.00027
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876 0.00025
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_015192.4(PLCB1):c.*295T>C rs376353155 0.00024
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_020708.5(SLC12A5):c.2776C>T (p.Arg926Trp) rs370818838 0.00023
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser) rs145154841 0.00019
NM_015192.4(PLCB1):c.*1252T>A rs537113179 0.00017
NM_015192.4(PLCB1):c.1433G>T (p.Gly478Val) rs146833633 0.00017
NM_015192.4(PLCB1):c.3347C>T (p.Ala1116Val) rs148936543 0.00017
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_015192.4(PLCB1):c.*1848A>T rs773609998 0.00016
NM_015192.4(PLCB1):c.1489T>G (p.Phe497Val) rs752634021 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_020708.5(SLC12A5):c.53-3C>T rs367992610 0.00016
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281 0.00015
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798 0.00015
NM_015192.4(PLCB1):c.3569C>G (p.Pro1190Arg) rs200781362 0.00015
NM_003705.5(SLC25A12):c.930+3dup rs746487507 0.00014
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg) rs949517384 0.00014
NM_015192.4(PLCB1):c.*1979T>G rs1002235917 0.00014
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys) rs201228765 0.00014
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733 0.00013
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr) rs146396085 0.00013
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00013
NM_007254.4(PNKP):c.1211G>A (p.Arg404His) rs549069697 0.00012
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.2354C>T (p.Thr785Met) rs202199288 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_020708.5(SLC12A5):c.1237+6G>A rs200873569 0.00011
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_015192.4(PLCB1):c.*785A>T rs886056972 0.00010
NM_015192.4(PLCB1):c.2588G>C (p.Gly863Ala) rs148288081 0.00010
NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu) rs780511606 0.00010
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) rs150936707 0.00010
NM_001127222.2(CACNA1A):c.2104+6C>T rs372970603 0.00009
NM_001127222.2(CACNA1A):c.2105-15C>T rs190471428 0.00009
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu) rs772988279 0.00009
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp) rs755843579 0.00009
NM_007254.4(PNKP):c.109C>T (p.Pro37Ser) rs536541839 0.00009
NM_015192.4(PLCB1):c.*1682G>A rs1035139433 0.00009
NM_015192.4(PLCB1):c.*632A>G rs886056970 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_020708.5(SLC12A5):c.3260-3C>A rs762852631 0.00009
NM_020708.5(SLC12A5):c.3347C>A (p.Ser1116Tyr) rs150192950 0.00009
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106 0.00008
NM_015192.4(PLCB1):c.*381G>A rs765987244 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015192.4(PLCB1):c.3590C>T (p.Thr1197Ile) rs190019296 0.00008
NM_015192.4(PLCB1):c.3606G>C (p.Glu1202Asp) rs200558916 0.00008
NM_020708.5(SLC12A5):c.2787+3G>A rs372923917 0.00008
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) rs761215437 0.00008
NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser) rs201678684 0.00008
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr) rs17846944 0.00007
NM_001127222.2(CACNA1A):c.3048C>G (p.Asp1016Glu) rs773821155 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866 0.00007
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00007
NM_015192.4(PLCB1):c.232G>A (p.Ala78Thr) rs761393253 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_015192.4(PLCB1):c.738G>A (p.Met246Ile) rs375123870 0.00007
NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His) rs762789388 0.00007
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His) rs964725459 0.00006
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser) rs375048004 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala) rs142373936 0.00006
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His) rs200754925 0.00006
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674 0.00006
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749 0.00006
NM_007254.4(PNKP):c.1443C>G (p.Gly481=) rs376213146 0.00006
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883 0.00006
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136 0.00006
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu) rs11555414 0.00006
NM_015192.4(PLCB1):c.*880G>T rs886056973 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015192.4(PLCB1):c.2171A>G (p.Asn724Ser) rs762968564 0.00006
NM_015192.4(PLCB1):c.3423+6C>T rs779690813 0.00006
NM_015192.4(PLCB1):c.3533A>G (p.Asn1178Ser) rs200309017 0.00006
NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala) rs973563199 0.00006
NM_015509.4(NECAP1):c.56T>C (p.Val19Ala) rs780390533 0.00006
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) rs765855460 0.00006
NM_020708.5(SLC12A5):c.1381G>A (p.Val461Ile) rs201487205 0.00006
NM_020708.5(SLC12A5):c.2210A>G (p.Lys737Arg) rs774596447 0.00006
NM_020708.5(SLC12A5):c.947G>A (p.Arg316Gln) rs144471748 0.00006
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) rs377270604 0.00006
NM_177550.5(SLC13A5):c.277G>A (p.Gly93Ser) rs201070023 0.00006
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_007254.4(PNKP):c.1163C>T (p.Ser388Leu) rs146311500 0.00005
NM_007254.4(PNKP):c.355C>A (p.Pro119Thr) rs376650849 0.00005
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu) rs755468325 0.00005
NM_015192.4(PLCB1):c.*1145A>C rs535936703 0.00005
NM_015192.4(PLCB1):c.*126A>G rs1049772195 0.00005
NM_015192.4(PLCB1):c.*1930G>T rs763981676 0.00005
NM_015192.4(PLCB1):c.3111+6C>T rs971351506 0.00005
NM_020708.5(SLC12A5):c.2375T>A (p.Ile792Asn) rs769820337 0.00005
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg) rs1229429201 0.00004
NM_000836.4(GRIN2D):c.2749A>G (p.Ser917Gly) rs1273701038 0.00004
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.1627C>T (p.Arg543Trp) rs1349147232 0.00004
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) rs1406066197 0.00004
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) rs995883431 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln) rs369440853 0.00004
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) rs573209959 0.00004
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) rs371273055 0.00004
NM_001127222.2(CACNA1A):c.5401-3C>T rs375947967 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu) rs377294817 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His) rs1057521565 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001958.5(EEF1A2):c.725C>T (p.Thr242Met) rs752137872 0.00004
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_007254.4(PNKP):c.1202C>G (p.Ser401Cys) rs899556646 0.00004
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137 0.00004
NM_007254.4(PNKP):c.212C>T (p.Pro71Leu) rs772033320 0.00004
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile) rs780440711 0.00004
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala) rs201748578 0.00004
NM_015192.4(PLCB1):c.*1965A>G rs905439149 0.00004
NM_015192.4(PLCB1):c.*2051C>T rs1024191399 0.00004
NM_015192.4(PLCB1):c.*964G>T rs886056974 0.00004
NM_015192.4(PLCB1):c.1432G>A (p.Gly478Ser) rs749354249 0.00004
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.2279G>A (p.Arg760His) rs377440334 0.00004
NM_015192.4(PLCB1):c.2318A>G (p.Tyr773Cys) rs948237591 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.2853G>C (p.Lys951Asn) rs202226833 0.00004
NM_015192.4(PLCB1):c.2930A>G (p.Lys977Arg) rs757601519 0.00004
NM_015192.4(PLCB1):c.2947C>T (p.Pro983Ser) rs371547145 0.00004
NM_015192.4(PLCB1):c.3112C>T (p.Leu1038Phe) rs762562905 0.00004
NM_015192.4(PLCB1):c.346C>T (p.His116Tyr) rs1018596939 0.00004
NM_015192.4(PLCB1):c.735G>A (p.Met245Ile) rs780585750 0.00004
NM_015192.4(PLCB1):c.905A>G (p.Glu302Gly) rs774418267 0.00004
NM_015192.4(PLCB1):c.919G>A (p.Val307Ile) rs373633394 0.00004
NM_015509.4(NECAP1):c.492+3G>A rs368777299 0.00004
NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu) rs764080699 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met) rs778801242 0.00004
NM_020708.5(SLC12A5):c.116A>T (p.Glu39Val) rs376521903 0.00004
NM_020708.5(SLC12A5):c.1558C>T (p.Pro520Ser) rs113818080 0.00004
NM_020708.5(SLC12A5):c.2017C>G (p.Gln673Glu) rs766589514 0.00004
NM_020708.5(SLC12A5):c.2338C>T (p.Arg780Cys) rs757395459 0.00004
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys) rs751841577 0.00004
NM_020708.5(SLC12A5):c.2910+3G>A rs758619527 0.00004
NM_020708.5(SLC12A5):c.3067C>G (p.Pro1023Ala) rs146580614 0.00004
NM_020708.5(SLC12A5):c.3083G>A (p.Gly1028Asp) rs367960887 0.00004
NM_020708.5(SLC12A5):c.3181G>T (p.Val1061Leu) rs763066735 0.00004
NM_020708.5(SLC12A5):c.401G>A (p.Cys134Tyr) rs377612895 0.00004
NM_177550.5(SLC13A5):c.1006G>A (p.Gly336Ser) rs1187250417 0.00004
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys) rs555139145 0.00004
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.286G>A (p.Val96Met) rs770640829 0.00004
NM_177550.5(SLC13A5):c.320A>G (p.Lys107Arg) rs376995742 0.00004
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) rs759069275 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile) rs764711084 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln) rs377021126 0.00004
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn) rs775962298 0.00003
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr) rs1971327716 0.00003
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp) rs762466161 0.00003
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val) rs762396014 0.00003
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His) rs761259850 0.00003
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys) rs994265107 0.00003
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr) rs776503550 0.00003
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr) rs1187916307 0.00003
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr) rs773209223 0.00003
NM_001127222.2(CACNA1A):c.5400+3G>A rs1034627495 0.00003
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln) rs745900417 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) rs1266642291 0.00003
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg) rs370345937 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln) rs756685971 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=) rs2304094 0.00003
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val) rs1005732031 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His) rs528718802 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001958.5(EEF1A2):c.1029+6G>A rs370457251 0.00003
NM_001958.5(EEF1A2):c.502G>A (p.Asp168Asn) rs779246304 0.00003
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met) rs993963334 0.00003
NM_004408.4(DNM1):c.812G>A (p.Arg271His) rs201656136 0.00003
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys) rs530663093 0.00003
NM_007254.4(PNKP):c.1285G>A (p.Ala429Thr) rs148386689 0.00003
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167 0.00003
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu) rs1165689250 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_007254.4(PNKP):c.20C>T (p.Pro7Leu) rs776442624 0.00003
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln) rs751820948 0.00003
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser) rs147553148 0.00003
NM_007254.4(PNKP):c.961T>C (p.Phe321Leu) rs1210892846 0.00003
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009 0.00003
NM_015192.4(PLCB1):c.1317G>C (p.Glu439Asp) rs746127346 0.00003
NM_015192.4(PLCB1):c.1581+4G>A rs761829659 0.00003
NM_015192.4(PLCB1):c.2559T>G (p.Ser853Arg) rs753642857 0.00003
NM_015192.4(PLCB1):c.2908G>A (p.Ala970Thr) rs763567304 0.00003
NM_015192.4(PLCB1):c.2930+15T>C rs749168952 0.00003
NM_015192.4(PLCB1):c.301C>T (p.Arg101Cys) rs868772684 0.00003
NM_015192.4(PLCB1):c.3373G>A (p.Val1125Ile) rs773333771 0.00003
NM_015192.4(PLCB1):c.499G>A (p.Gly167Arg) rs749130736 0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His) rs775904184 0.00003
NM_015192.4(PLCB1):c.913G>A (p.Gly305Arg) rs370525961 0.00003
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys) rs202044480 0.00003
NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr) rs755337455 0.00003
NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys) rs1016693316 0.00003
NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr) rs775614356 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00003
NM_020708.5(SLC12A5):c.1955C>T (p.Ala652Val) rs1555865828 0.00003
NM_020708.5(SLC12A5):c.1961G>A (p.Arg654His) rs760824180 0.00003
NM_020708.5(SLC12A5):c.2854C>T (p.Arg952Cys) rs747552467 0.00003
NM_020708.5(SLC12A5):c.2860A>G (p.Asn954Asp) rs781354583 0.00003
NM_020708.5(SLC12A5):c.287G>A (p.Arg96His) rs756873079 0.00003
NM_020708.5(SLC12A5):c.2984G>C (p.Gly995Ala) rs376925159 0.00003
NM_020708.5(SLC12A5):c.851T>G (p.Phe284Cys) rs1213597825 0.00003
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) rs989268235 0.00003
NM_177550.5(SLC13A5):c.1172T>C (p.Phe391Ser) rs777258503 0.00003
NM_177550.5(SLC13A5):c.1334C>T (p.Pro445Leu) rs558866003 0.00003
NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser) rs779942374 0.00003
NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp) rs770090939 0.00003
NM_177550.5(SLC13A5):c.499G>A (p.Glu167Lys) rs373010067 0.00003
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) rs200275193 0.00003
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) rs759034052 0.00003
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln) rs1379095103 0.00003
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser) rs900615101 0.00002
NM_001127221.2(CACNA1A):c.5533G>A (p.Gly1845Ser) rs141565870 0.00002
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln) rs772354342 0.00002
NM_001127222.2(CACNA1A):c.1394C>T (p.Ser465Leu) rs544363291 0.00002
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys) rs1189054127 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp) rs753402026 0.00002
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) rs762006290 0.00002
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser) rs1458640910 0.00002
NM_001127222.2(CACNA1A):c.4089+3G>A rs781595676 0.00002
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr) rs753229469 0.00002
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr) rs766012999 0.00002
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser) rs376910068 0.00002
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=) rs758320697 0.00002
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn) rs1085307866 0.00002
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp) rs1162464868 0.00002
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) rs1374160355 0.00002
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) rs1417890059 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn) rs747673128 0.00002
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr) rs760470308 0.00002
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro) rs1353109044 0.00002
NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe) rs768312851 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_004408.4(DNM1):c.293G>A (p.Arg98His) rs748195071 0.00002
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu) rs146211149 0.00002
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val) rs371146552 0.00002
NM_004974.4(KCNA2):c.218G>A (p.Arg73Gln) rs373042266 0.00002
NM_004974.4(KCNA2):c.544C>A (p.Leu182Met) rs367662144 0.00002
NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys) rs753829876 0.00002
NM_004974.4(KCNA2):c.754A>G (p.Thr252Ala) rs772053786 0.00002
NM_004974.4(KCNA2):c.841G>A (p.Ala281Thr) rs753926939 0.00002
NM_004975.4(KCNB1):c.1595T>C (p.Met532Thr) rs781098579 0.00002
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00002
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val) rs1386449842 0.00002
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser) rs760583725 0.00002
NM_007254.4(PNKP):c.1121C>T (p.Pro374Leu) rs1391995905 0.00002
NM_007254.4(PNKP):c.1188+12C>T rs780736753 0.00002
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060 0.00002
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val) rs769707108 0.00002
NM_007254.4(PNKP):c.1370C>T (p.Ala457Val) rs776349198 0.00002
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln) rs745651405 0.00002
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949 0.00002
NM_007254.4(PNKP):c.314G>A (p.Arg105His) rs535302504 0.00002
NM_007254.4(PNKP):c.344A>G (p.Gln115Arg) rs200055661 0.00002
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_007254.4(PNKP):c.816G>A (p.Gln272=) rs534099292 0.00002
NM_007254.4(PNKP):c.936+6G>A rs751664776 0.00002
NM_015192.4(PLCB1):c.*2019G>A rs1009626644 0.00002
NM_015192.4(PLCB1):c.*2717G>A rs763021921 0.00002
NM_015192.4(PLCB1):c.-1G>C rs764523154 0.00002
NM_015192.4(PLCB1):c.1415A>C (p.Lys472Thr) rs368448785 0.00002
NM_015192.4(PLCB1):c.1551T>G (p.Asp517Glu) rs150189968 0.00002
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 0.00002
NM_015192.4(PLCB1):c.2829C>A (p.Asp943Glu) rs745349550 0.00002
NM_015192.4(PLCB1):c.2983G>A (p.Ala995Thr) rs780463144 0.00002
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_015192.4(PLCB1):c.3136G>A (p.Ala1046Thr) rs778097231 0.00002
NM_015192.4(PLCB1):c.3326A>G (p.Tyr1109Cys) rs747642151 0.00002
NM_015192.4(PLCB1):c.3475C>G (p.Leu1159Val) rs1987996323 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.3493G>A (p.Val1165Met) rs772786871 0.00002
NM_015192.4(PLCB1):c.3572G>C (p.Gly1191Ala) rs772366922 0.00002
NM_015192.4(PLCB1):c.464C>T (p.Ala155Val) rs148738915 0.00002
NM_015192.4(PLCB1):c.889C>T (p.Arg297Cys) rs149661663 0.00002
NM_015509.4(NECAP1):c.137G>A (p.Arg46His) rs751979807 0.00002
NM_015509.4(NECAP1):c.437G>A (p.Arg146His) rs769210779 0.00002
NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu) rs748757462 0.00002
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_020708.5(SLC12A5):c.1348G>A (p.Val450Ile) rs745565201 0.00002
NM_020708.5(SLC12A5):c.2036G>A (p.Arg679His) rs763612651 0.00002
NM_020708.5(SLC12A5):c.2260G>A (p.Val754Met) rs551572064 0.00002
NM_020708.5(SLC12A5):c.2300A>G (p.Gln767Arg) rs995997850 0.00002
NM_020708.5(SLC12A5):c.2371T>C (p.Phe791Leu) rs776507788 0.00002
NM_020708.5(SLC12A5):c.272C>T (p.Pro91Leu) rs1436913904 0.00002
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met) rs759314815 0.00002
NM_020708.5(SLC12A5):c.2893G>C (p.Glu965Gln) rs776262547 0.00002
NM_020708.5(SLC12A5):c.2935G>A (p.Ala979Thr) rs751920054 0.00002
NM_020708.5(SLC12A5):c.30C>A (p.Asp10Glu) rs933771451 0.00002
NM_020708.5(SLC12A5):c.3142C>T (p.Arg1048Trp) rs369042030 0.00002
NM_020708.5(SLC12A5):c.772G>A (p.Val258Ile) rs915523015 0.00002
NM_020708.5(SLC12A5):c.955G>A (p.Gly319Ser) rs765018314 0.00002
NM_020708.5(SLC12A5):c.958C>T (p.Leu320Phe) rs916790849 0.00002
NM_024818.6(UBA5):c.460G>A (p.Val154Met) rs761169562 0.00002
NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg) rs370020005 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) rs777285678 0.00002
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val) rs143719876 0.00002
NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val) rs753629596 0.00002
NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp) rs202208840 0.00002
NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu) rs769020153 0.00002
NM_177550.5(SLC13A5):c.227G>A (p.Arg76Lys) rs778196660 0.00002
NM_177550.5(SLC13A5):c.368G>A (p.Arg123Gln) rs530676026 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_177550.5(SLC13A5):c.446T>C (p.Val149Ala) rs761377416 0.00002
NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn) rs758852137 0.00002
NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr) rs777184227 0.00002
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) rs539587921 0.00001
NM_000836.4(GRIN2D):c.1085+13G>A rs956727278 0.00001
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile) rs761726968 0.00001
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser) rs141530315 0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser) rs1340140743 0.00001
NM_000836.4(GRIN2D):c.344T>C (p.Val115Ala) rs757989014 0.00001
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala) rs1971333907 0.00001
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr) rs759019629 0.00001
NM_001127221.2(CACNA1A):c.5532C>T (p.Cys1844=) rs765557914 0.00001
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser) rs1064795477 0.00001
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558 0.00001
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala) rs745753973 0.00001
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg) rs1448345243 0.00001
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp) rs1208991974 0.00001
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn) rs1600346973 0.00001
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser) rs1426869372 0.00001
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) rs201398669 0.00001
NM_001127222.2(CACNA1A):c.1333A>G (p.Ile445Val) rs1188726884 0.00001
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg) rs769335170 0.00001
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala) rs1195950626 0.00001
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His) rs761827501 0.00001
NM_001127222.2(CACNA1A):c.1441C>T (p.Arg481Cys) rs377011125 0.00001
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys) rs886039322 0.00001
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile) rs752572390 0.00001
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr) rs767207007 0.00001
NM_001127222.2(CACNA1A):c.1782-5G>A rs1085307739 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.1906G>A (p.Gly636Ser) rs943419160 0.00001
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu) rs762530372 0.00001
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr) rs775081414 0.00001
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr) rs1201483107 0.00001
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val) rs200355966 0.00001
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) rs1196111017 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln) rs953797733 0.00001
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys) rs1248783281 0.00001
NM_001127222.2(CACNA1A):c.2491C>T (p.Arg831Cys) rs1464680327 0.00001
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) rs1057522204 0.00001
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln) rs1057518589 0.00001
NM_001127222.2(CACNA1A):c.2612C>A (p.Pro871His) rs1178583020 0.00001
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055 0.00001
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val) rs1309338929 0.00001
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp) rs1408152396 0.00001
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly) rs2057731758 0.00001
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu) rs1487101039 0.00001
NM_001127222.2(CACNA1A):c.2717G>A (p.Arg906Gln) rs776495488 0.00001
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val) rs765345767 0.00001
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met) rs767187794 0.00001
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly) rs778220824 0.00001
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys) rs754979047 0.00001
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg) rs527593196 0.00001
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys) rs16978975 0.00001
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val) rs1442995931 0.00001
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro) rs1316264115 0.00001
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys) rs532842904 0.00001
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp) rs1361244265 0.00001
NM_001127222.2(CACNA1A):c.294-4A>G rs1400044284 0.00001
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser) rs2057722310 0.00001
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val) rs2057722221 0.00001
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) rs781006387 0.00001
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro) rs1424294725 0.00001
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp) rs772611976 0.00001
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln) rs1458500776 0.00001
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro) rs1273138619 0.00001
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr) rs371820430 0.00001
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser) rs1215692574 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met) rs374720207 0.00001
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) rs755440575 0.00001
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val) rs746955115 0.00001
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val) rs766027931 0.00001
NM_001127222.2(CACNA1A):c.3481A>G (p.Arg1161Gly) rs760265407 0.00001
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg) rs16028 0.00001
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser) rs1250790986 0.00001
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu) rs763558455 0.00001
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys) rs761983146 0.00001
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu) rs573365997 0.00001
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val) rs375903481 0.00001
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg) rs1202097056 0.00001
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu) rs1057522815 0.00001
NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp) rs372970430 0.00001
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln) rs372344357 0.00001
NM_001127222.2(CACNA1A):c.3961A>G (p.Ser1321Gly) rs2057136011 0.00001
NM_001127222.2(CACNA1A):c.399+3G>A rs1275496281 0.00001
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe) rs2056601798 0.00001
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) rs121908234 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr) rs369134549 0.00001
NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr) rs1004488897 0.00001
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr) rs761579946 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser) rs1353824164 0.00001
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) rs769043258 0.00001
NM_001127222.2(CACNA1A):c.4850T>C (p.Met1617Thr) rs1469756019 0.00001
NM_001127222.2(CACNA1A):c.4866+6T>A rs757178835 0.00001
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys) rs747020168 0.00001
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His) rs777769751 0.00001
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr) rs2056194193 0.00001
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His) rs1057519429 0.00001
NM_001127222.2(CACNA1A):c.5134-3C>T rs576141199 0.00001
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn) rs766254024 0.00001
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys) rs1064795744 0.00001
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met) rs773461333 0.00001
NM_001127222.2(CACNA1A):c.5626-3T>C rs2055372579 0.00001
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp) rs746460335 0.00001
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg) rs966699696 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met) rs1365721398 0.00001
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys) rs375365071 0.00001
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met) rs748279762 0.00001
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met) rs749251058 0.00001
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His) rs1178337230 0.00001
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala) rs1303685302 0.00001
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp) rs1402384624 0.00001
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg) rs759624463 0.00001
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro) rs774375692 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp) rs765421252 0.00001
NM_001127222.2(CACNA1A):c.6190-8C>G rs762766173 0.00001
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) rs370514102 0.00001
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn) rs1057524336 0.00001
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His) rs1174830824 0.00001
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser) rs1259126760 0.00001
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) rs769128653 0.00001
NM_001127222.2(CACNA1A):c.6304-3C>T rs1354563230 0.00001
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser) rs1376625416 0.00001
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu) rs868808043 0.00001
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=) rs765072424 0.00001
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His) rs749172043 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys) rs371984902 0.00001
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys) rs780779363 0.00001
NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln) rs759949928 0.00001
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg) rs1242460645 0.00001
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys) rs746582303 0.00001
NM_001127222.2(CACNA1A):c.6526+6C>T rs1366998583 0.00001
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg) rs953871050 0.00001
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile) rs1335828021 0.00001
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg) rs965819293 0.00001
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp) rs1477386827 0.00001
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln) rs1326871701 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg) rs1444251671 0.00001
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg) rs1002423867 0.00001
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys) rs757715357 0.00001
NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr) rs2054683125 0.00001
NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp) rs1415336869 0.00001
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His) rs1219651327 0.00001
NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu) rs1274796380 0.00001
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser) rs1433873178 0.00001
NM_001127222.2(CACNA1A):c.6757C>T (p.Arg2253Ter) rs1166102159 0.00001
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr) rs1057523197 0.00001
NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln) rs201582095 0.00001
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn) rs1599292361 0.00001
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys) rs1326606155 0.00001
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile) rs1250942113 0.00001
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile) rs1195270312 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln) rs755721954 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001958.5(EEF1A2):c.1064C>T (p.Ala355Val) rs146728528 0.00001
NM_001958.5(EEF1A2):c.1102A>G (p.Ile368Val) rs2082366535 0.00001
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr) rs1490454929 0.00001
NM_001958.5(EEF1A2):c.1382C>T (p.Ala461Val) rs757556226 0.00001
NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile) rs1555883811 0.00001
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His) rs1459691759 0.00001
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr) rs778585590 0.00001
NM_001958.5(EEF1A2):c.739C>T (p.Arg247Cys) rs1325353717 0.00001
NM_003705.5(SLC25A12):c.*994C>T rs189758490 0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=) rs772468981 0.00001
NM_003705.5(SLC25A12):c.67-6T>A rs1302626614 0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp) rs757002057 0.00001
NM_004113.6(FGF12):c.125-3C>G rs371917110 0.00001
NM_004171.4(SLC1A2):c.107G>A (p.Arg36His) rs980878522 0.00001
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr) rs1022532582 0.00001
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr) rs956332291 0.00001
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209 0.00001
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met) rs750618124 0.00001
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu) rs1373361613 0.00001
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 0.00001
NM_004408.4(DNM1):c.1545+6T>C rs368249222 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg) rs1333859821 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys) rs1414107946 0.00001
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu) rs745835138 0.00001
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val) rs1474835177 0.00001
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu) rs1353174747 0.00001
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser) rs1131692001 0.00001
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile) rs1006999214 0.00001
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn) rs1229779896 0.00001
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly) rs1206732749 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004408.4(DNM1):c.384C>T (p.His128=) rs535527521 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu) rs780514615 0.00001
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys) rs1485891906 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr) rs766504829 0.00001
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu) rs1431736054 0.00001
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys) rs752917058 0.00001
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln) rs1321080189 0.00001
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp) rs1214581005 0.00001
NM_004974.4(KCNA2):c.1108G>A (p.Val370Ile) rs756214647 0.00001
NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr) rs1197586006 0.00001
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln) rs1296710118 0.00001
NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys) rs149776127 0.00001
NM_004974.4(KCNA2):c.194G>A (p.Arg65Gln) rs1649516324 0.00001
NM_004974.4(KCNA2):c.23C>T (p.Pro8Leu) rs1487522107 0.00001
NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln) rs1194485302 0.00001
NM_004974.4(KCNA2):c.397A>G (p.Ile133Val) rs759722211 0.00001
NM_004974.4(KCNA2):c.511A>G (p.Met171Val) rs773468235 0.00001
NM_004974.4(KCNA2):c.532G>A (p.Val178Ile) rs762594923 0.00001
NM_004974.4(KCNA2):c.565C>T (p.Arg189Trp) rs770611476 0.00001
NM_004974.4(KCNA2):c.601A>T (p.Thr201Ser) rs1016641998 0.00001
NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser) rs746926057 0.00001
NM_004974.4(KCNA2):c.862A>G (p.Met288Val) rs1486839913 0.00001
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly) rs760931963 0.00001
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) rs767889610 0.00001
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) rs1984227856 0.00001
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val) rs761452916 0.00001
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys) rs1355278265 0.00001
NM_004975.4(KCNB1):c.1778G>C (p.Ser593Thr) rs1415361663 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp) rs1247080453 0.00001
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) rs1276898684 0.00001
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) rs769948178 0.00001
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser) rs1214997887 0.00001
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) rs267605983 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala) rs1262864745 0.00001
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) rs1049874069 0.00001
NM_004975.4(KCNB1):c.29C>T (p.Ser10Phe) rs902335211 0.00001
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) rs1315753296 0.00001
NM_004975.4(KCNB1):c.856G>A (p.Val286Met) rs1194019938 0.00001
NM_007254.4(PNKP):c.1016C>T (p.Pro339Leu) rs1025604697 0.00001
NM_007254.4(PNKP):c.1018G>C (p.Ala340Pro) rs1194802183 0.00001
NM_007254.4(PNKP):c.1046C>T (p.Ser349Leu) rs758045226 0.00001
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg) rs750098786 0.00001
NM_007254.4(PNKP):c.1051C>T (p.Pro351Ser) rs764879888 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1087G>A (p.Ala363Thr) rs1187151464 0.00001
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303 0.00001
NM_007254.4(PNKP):c.1108G>A (p.Ala370Thr) rs945654606 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855 0.00001
NM_007254.4(PNKP):c.1193C>T (p.Thr398Met) rs1010036717 0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312 0.00001
NM_007254.4(PNKP):c.1217T>G (p.Val406Gly) rs141938129 0.00001
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro) rs199652836 0.00001
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150 0.00001
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val) rs1060502500 0.00001
NM_007254.4(PNKP):c.1247G>A (p.Gly416Glu) rs1198936842 0.00001
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098 0.00001
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151 0.00001
NM_007254.4(PNKP):c.1292G>A (p.Arg431His) rs950502049 0.00001
NM_007254.4(PNKP):c.1295C>T (p.Ala432Val) rs1568658987 0.00001
NM_007254.4(PNKP):c.1303G>A (p.Val435Ile) rs1568658756 0.00001
NM_007254.4(PNKP):c.1309T>C (p.Cys437Arg) rs772111430 0.00001
NM_007254.4(PNKP):c.1330C>T (p.Pro444Ser) rs1191025361 0.00001
NM_007254.4(PNKP):c.1331C>T (p.Pro444Leu) rs908736344 0.00001
NM_007254.4(PNKP):c.1373G>A (p.Arg458His) rs1187812495 0.00001
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp) rs778893834 0.00001
NM_007254.4(PNKP):c.1387-3C>G rs1470343514 0.00001
NM_007254.4(PNKP):c.1429A>G (p.Met477Val) rs796052856 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857 0.00001
NM_007254.4(PNKP):c.1465C>T (p.Pro489Ser) rs746916070 0.00001
NM_007254.4(PNKP):c.1477G>A (p.Glu493Lys) rs1488577824 0.00001
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756 0.00001
NM_007254.4(PNKP):c.14A>G (p.Glu5Gly) rs1278449939 0.00001
NM_007254.4(PNKP):c.152-8A>G rs751424212 0.00001
NM_007254.4(PNKP):c.152T>G (p.Val51Gly) rs758700077 0.00001
NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp) rs112217838 0.00001
NM_007254.4(PNKP):c.1538G>A (p.Arg513Gln) rs761491872 0.00001
NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln) rs770823063 0.00001
NM_007254.4(PNKP):c.1561G>A (p.Gly521Ser) rs1289682803 0.00001
NM_007254.4(PNKP):c.184G>A (p.Val62Met) rs1467903741 0.00001
NM_007254.4(PNKP):c.199-7T>A rs904994238 0.00001
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys) rs1016887861 0.00001
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617 0.00001
NM_007254.4(PNKP):c.473C>T (p.Ala158Val) rs372615308 0.00001
NM_007254.4(PNKP):c.482T>C (p.Val161Ala) rs368921337 0.00001
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138 0.00001
NM_007254.4(PNKP):c.499-4C>G rs545573584 0.00001
NM_007254.4(PNKP):c.520G>A (p.Gly174Arg) rs142770020 0.00001
NM_007254.4(PNKP):c.566C>G (p.Pro189Arg) rs570975244 0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 0.00001
NM_007254.4(PNKP):c.602G>A (p.Arg201His) rs150253619 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007254.4(PNKP):c.634A>G (p.Lys212Glu) rs762187891 0.00001
NM_007254.4(PNKP):c.637C>T (p.Leu213=) rs770006231 0.00001
NM_007254.4(PNKP):c.667G>A (p.Gly223Arg) rs764562312 0.00001
NM_007254.4(PNKP):c.688G>A (p.Glu230Lys) rs768745851 0.00001
NM_007254.4(PNKP):c.713C>T (p.Ala238Val) rs746166841 0.00001
NM_007254.4(PNKP):c.718G>A (p.Val240Met) rs1315272571 0.00001
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505 0.00001
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249 0.00001
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768 0.00001
NM_007254.4(PNKP):c.788C>T (p.Thr263Met) rs766704284 0.00001
NM_007254.4(PNKP):c.794T>C (p.Met265Thr) rs756988038 0.00001
NM_007254.4(PNKP):c.816+6T>A rs1313353571 0.00001
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814 0.00001
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965 0.00001
NM_007254.4(PNKP):c.863G>A (p.Gly288Glu) rs1215859117 0.00001
NM_007254.4(PNKP):c.865+6G>A rs776910301 0.00001
NM_007254.4(PNKP):c.868G>A (p.Ala290Thr) rs1485940017 0.00001
NM_007254.4(PNKP):c.872C>G (p.Ala291Gly) rs1259588757 0.00001
NM_007254.4(PNKP):c.925G>A (p.Ala309Thr) rs202022265 0.00001
NM_007254.4(PNKP):c.927C>A (p.Ala309=) rs375879639 0.00001
NM_007254.4(PNKP):c.932G>A (p.Arg311His) rs372435922 0.00001
NM_015192.4(PLCB1):c.*1795A>C rs1280054046 0.00001
NM_015192.4(PLCB1):c.*2485G>C rs1988098726 0.00001
NM_015192.4(PLCB1):c.*372A>G rs886056967 0.00001
NM_015192.4(PLCB1):c.*423G>A rs886056969 0.00001
NM_015192.4(PLCB1):c.1183A>G (p.Ile395Val) rs564559831 0.00001
NM_015192.4(PLCB1):c.1219A>G (p.Ile407Val) rs546265226 0.00001
NM_015192.4(PLCB1):c.121A>G (p.Ile41Val) rs191106606 0.00001
NM_015192.4(PLCB1):c.1250C>T (p.Ser417Phe) rs559611655 0.00001
NM_015192.4(PLCB1):c.1366A>G (p.Met456Val) rs777452326 0.00001
NM_015192.4(PLCB1):c.1460C>T (p.Ser487Phe) rs1376374003 0.00001
NM_015192.4(PLCB1):c.1474G>A (p.Asp492Asn) rs1319451536 0.00001
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn) rs764250569 0.00001
NM_015192.4(PLCB1):c.1582-3C>A rs1055626063 0.00001
NM_015192.4(PLCB1):c.1643A>T (p.Gln548Leu) rs1158119382 0.00001
NM_015192.4(PLCB1):c.1657G>C (p.Glu553Gln) rs1555786069 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1686T>G (p.Asn562Lys) rs745674166 0.00001
NM_015192.4(PLCB1):c.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_015192.4(PLCB1):c.1742A>G (p.Lys581Arg) rs1568574949 0.00001
NM_015192.4(PLCB1):c.1930G>A (p.Gly644Arg) rs781536705 0.00001
NM_015192.4(PLCB1):c.1961T>C (p.Phe654Ser) rs369668806 0.00001
NM_015192.4(PLCB1):c.1962C>T (p.Phe654=) rs747774959 0.00001
NM_015192.4(PLCB1):c.2008G>A (p.Val670Ile) rs772981786 0.00001
NM_015192.4(PLCB1):c.200G>A (p.Ser67Asn) rs775742325 0.00001
NM_015192.4(PLCB1):c.2042A>G (p.Lys681Arg) rs776660417 0.00001
NM_015192.4(PLCB1):c.2134G>T (p.Ala712Ser) rs978185234 0.00001
NM_015192.4(PLCB1):c.2176G>A (p.Val726Ile) rs756337847 0.00001
NM_015192.4(PLCB1):c.2267T>G (p.Phe756Cys) rs1350964561 0.00001
NM_015192.4(PLCB1):c.2286G>T (p.Leu762Phe) rs202079822 0.00001
NM_015192.4(PLCB1):c.2300T>C (p.Ile767Thr) rs745553901 0.00001
NM_015192.4(PLCB1):c.2387A>G (p.Lys796Arg) rs886056964 0.00001
NM_015192.4(PLCB1):c.2405C>T (p.Thr802Ile) rs377053037 0.00001
NM_015192.4(PLCB1):c.2534G>A (p.Gly845Glu) rs749715935 0.00001
NM_015192.4(PLCB1):c.2552C>T (p.Ala851Val) rs1326445069 0.00001
NM_015192.4(PLCB1):c.2600C>T (p.Thr867Ile) rs746314670 0.00001
NM_015192.4(PLCB1):c.260G>A (p.Arg87His) rs750475493 0.00001
NM_015192.4(PLCB1):c.2753C>T (p.Ser918Leu) rs759604666 0.00001
NM_015192.4(PLCB1):c.2785G>C (p.Glu929Gln) rs758788229 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.2893G>A (p.Ala965Thr) rs1253411202 0.00001
NM_015192.4(PLCB1):c.289C>T (p.Arg97Cys) rs778824465 0.00001
NM_015192.4(PLCB1):c.2930+13A>G rs779541589 0.00001
NM_015192.4(PLCB1):c.2930+4A>G rs1467441458 0.00001
NM_015192.4(PLCB1):c.2969T>C (p.Ile990Thr) rs758174226 0.00001
NM_015192.4(PLCB1):c.2992G>C (p.Asp998His) rs1982854661 0.00001
NM_015192.4(PLCB1):c.3074A>G (p.Tyr1025Cys) rs1250342429 0.00001
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00001
NM_015192.4(PLCB1):c.3105T>G (p.Ile1035Met) rs1458003629 0.00001
NM_015192.4(PLCB1):c.3128C>T (p.Thr1043Met) rs754052641 0.00001
NM_015192.4(PLCB1):c.3172A>G (p.Lys1058Glu) rs771219955 0.00001
NM_015192.4(PLCB1):c.319T>C (p.Tyr107His) rs759519379 0.00001
NM_015192.4(PLCB1):c.31T>G (p.Leu11Val) rs759794686 0.00001
NM_015192.4(PLCB1):c.3292A>G (p.Met1098Val) rs1325949995 0.00001
NM_015192.4(PLCB1):c.3294G>T (p.Met1098Ile) rs1983651282 0.00001
NM_015192.4(PLCB1):c.3304T>C (p.Tyr1102His) rs376179077 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 0.00001
NM_015192.4(PLCB1):c.340A>G (p.Ile114Val) rs561450964 0.00001
NM_015192.4(PLCB1):c.3422A>C (p.Lys1141Thr) rs758111758 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.3505A>G (p.Met1169Val) rs766079031 0.00001
NM_015192.4(PLCB1):c.3522T>G (p.Ser1174Arg) rs765066861 0.00001
NM_015192.4(PLCB1):c.3616G>A (p.Asp1206Asn) rs761748712 0.00001
NM_015192.4(PLCB1):c.3626G>A (p.Gly1209Glu) rs779064619 0.00001
NM_015192.4(PLCB1):c.379G>A (p.Ala127Thr) rs779377929 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015192.4(PLCB1):c.696-3T>C rs1439321294 0.00001
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp) rs1222914240 0.00001
NM_015192.4(PLCB1):c.853G>A (p.Ala285Thr) rs776416226 0.00001
NM_015509.4(NECAP1):c.195A>G (p.Ser65=) rs770774824 0.00001
NM_015509.4(NECAP1):c.305G>A (p.Arg102His) rs766363501 0.00001
NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala) rs754771825 0.00001
NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn) rs755866954 0.00001
NM_015509.4(NECAP1):c.376C>T (p.His126Tyr) rs775899740 0.00001
NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn) rs1219581866 0.00001
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) rs1477942819 0.00001
NM_015509.4(NECAP1):c.518C>T (p.Ala173Val) rs770195923 0.00001
NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser) rs1340615210 0.00001
NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser) rs3203835 0.00001
NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr) rs371472296 0.00001
NM_015509.4(NECAP1):c.713C>T (p.Thr238Met) rs763248083 0.00001
NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala) rs752197558 0.00001
NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser) rs776221234 0.00001
NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu) rs765737930 0.00001
NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr) rs898607958 0.00001
NM_015509.4(NECAP1):c.77C>T (p.Ala26Val) rs1258379215 0.00001
NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser) rs763046716 0.00001
NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile) rs1591593478 0.00001
NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser) rs147832660 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00001
NM_020708.5(SLC12A5):c.1035C>T (p.Gly345=) rs747195101 0.00001
NM_020708.5(SLC12A5):c.1072C>G (p.Leu358Val) rs200514600 0.00001
NM_020708.5(SLC12A5):c.1156G>A (p.Asp386Asn) rs200798560 0.00001
NM_020708.5(SLC12A5):c.125G>A (p.Gly42Asp) rs1281331190 0.00001
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) rs140326431 0.00001
NM_020708.5(SLC12A5):c.1318G>A (p.Ala440Thr) rs769231047 0.00001
NM_020708.5(SLC12A5):c.1333G>A (p.Val445Ile) rs1600597599 0.00001
NM_020708.5(SLC12A5):c.1369A>G (p.Ile457Val) rs772414812 0.00001
NM_020708.5(SLC12A5):c.1395-3C>T rs760459724 0.00001
NM_020708.5(SLC12A5):c.1402G>A (p.Glu468Lys) rs564134718 0.00001
NM_020708.5(SLC12A5):c.148-16C>G rs751494861 0.00001
NM_020708.5(SLC12A5):c.1570-3C>G rs1371403151 0.00001
NM_020708.5(SLC12A5):c.1619T>C (p.Leu540Pro) rs149824011 0.00001
NM_020708.5(SLC12A5):c.1636G>C (p.Glu546Gln) rs1364136088 0.00001
NM_020708.5(SLC12A5):c.1975C>T (p.Arg659Cys) rs1173713421 0.00001
NM_020708.5(SLC12A5):c.1983G>A (p.Glu661=) rs1179563553 0.00001
NM_020708.5(SLC12A5):c.2041G>A (p.Asp681Asn) rs753266125 0.00001
NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu) rs890647462 0.00001
NM_020708.5(SLC12A5):c.2165C>T (p.Ala722Val) rs1301239632 0.00001
NM_020708.5(SLC12A5):c.2191C>T (p.Arg731Cys) rs1197752454 0.00001
NM_020708.5(SLC12A5):c.2252G>A (p.Arg751His) rs377709894 0.00001
NM_020708.5(SLC12A5):c.2296C>A (p.Leu766Met) rs753106879 0.00001
NM_020708.5(SLC12A5):c.2377+5C>T rs903951175 0.00001
NM_020708.5(SLC12A5):c.2387G>A (p.Arg796Gln) rs1365579102 0.00001
NM_020708.5(SLC12A5):c.2431G>A (p.Val811Ile) rs201152687 0.00001
NM_020708.5(SLC12A5):c.2459G>A (p.Arg820His) rs1179723675 0.00001
NM_020708.5(SLC12A5):c.2541C>A (p.His847Gln) rs1190180234 0.00001
NM_020708.5(SLC12A5):c.2554C>T (p.Arg852Trp) rs1332402437 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 0.00001
NM_020708.5(SLC12A5):c.2678T>C (p.Met893Thr) rs200461513 0.00001
NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His) rs764216462 0.00001
NM_020708.5(SLC12A5):c.2846C>T (p.Thr949Met) rs758888959 0.00001
NM_020708.5(SLC12A5):c.2879C>G (p.Ala960Gly) rs775224780 0.00001
NM_020708.5(SLC12A5):c.2885A>G (p.Asp962Gly) rs1284519025 0.00001
NM_020708.5(SLC12A5):c.2933G>A (p.Ser978Asn) rs1216388861 0.00001
NM_020708.5(SLC12A5):c.2942G>A (p.Ser981Asn) rs2084694133 0.00001
NM_020708.5(SLC12A5):c.3002C>G (p.Pro1001Arg) rs749426883 0.00001
NM_020708.5(SLC12A5):c.3062C>T (p.Pro1021Leu) rs1206199358 0.00001
NM_020708.5(SLC12A5):c.3110+4C>T rs781152138 0.00001
NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu) rs529949253 0.00001
NM_020708.5(SLC12A5):c.3143G>A (p.Arg1048Gln) rs1291356001 0.00001
NM_020708.5(SLC12A5):c.3145C>T (p.Arg1049Cys) rs548424453 0.00001
NM_020708.5(SLC12A5):c.3242G>T (p.Arg1081Leu) rs376095009 0.00001
NM_020708.5(SLC12A5):c.3325C>T (p.Arg1109Cys) rs1568870063 0.00001
NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=) rs1394912099 0.00001
NM_020708.5(SLC12A5):c.336T>G (p.Phe112Leu) rs2084493854 0.00001
NM_020708.5(SLC12A5):c.340G>A (p.Val114Ile) rs760750912 0.00001
NM_020708.5(SLC12A5):c.52G>A (p.Gly18Ser) rs1399171674 0.00001
NM_020708.5(SLC12A5):c.692G>A (p.Arg231His) rs1555863134 0.00001
NM_020708.5(SLC12A5):c.908C>G (p.Ala303Gly) rs751140061 0.00001
NM_020708.5(SLC12A5):c.916G>A (p.Ala306Thr) rs2084545554 0.00001
NM_020708.5(SLC12A5):c.937G>A (p.Val313Met) rs138569099 0.00001
NM_020708.5(SLC12A5):c.974G>A (p.Arg325His) rs751583991 0.00001
NM_020708.5(SLC12A5):c.97G>A (p.Asp33Asn) rs534826231 0.00001
NM_020708.5(SLC12A5):c.983A>G (p.Asn328Ser) rs2084546554 0.00001
NM_020708.5(SLC12A5):c.985G>A (p.Ala329Thr) rs767192319 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_177550.5(SLC13A5):c.1002C>A (p.Asp334Glu) rs765942920 0.00001
NM_177550.5(SLC13A5):c.1033G>T (p.Ala345Ser) rs776529961 0.00001
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.106G>A (p.Val36Ile) rs1354071715 0.00001
NM_177550.5(SLC13A5):c.1106T>C (p.Ile369Thr) rs773383980 0.00001
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) rs1423476132 0.00001
NM_177550.5(SLC13A5):c.1166C>T (p.Thr389Ile) rs748877090 0.00001
NM_177550.5(SLC13A5):c.1286T>G (p.Leu429Arg) rs1231356601 0.00001
NM_177550.5(SLC13A5):c.1309A>T (p.Met437Leu) rs980479909 0.00001
NM_177550.5(SLC13A5):c.1336G>C (p.Ala446Pro) rs1399161589 0.00001
NM_177550.5(SLC13A5):c.134T>C (p.Met45Thr) rs1208101006 0.00001
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met) rs750791192 0.00001
NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg) rs148049520 0.00001
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) rs779336736 0.00001
NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr) rs765088400 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met) rs201089077 0.00001
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala) rs776701159 0.00001
NM_177550.5(SLC13A5):c.1575+5C>T rs778223098 0.00001
NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln) rs373799811 0.00001
NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile) rs771551520 0.00001
NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile) rs144640152 0.00001
NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu) rs1458426377 0.00001
NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile) rs1414544534 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.335G>A (p.Arg112His) rs772720272 0.00001
NM_177550.5(SLC13A5):c.358A>G (p.Lys120Glu) rs777351597 0.00001
NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr) rs368701407 0.00001
NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe) rs774491349 0.00001
NM_177550.5(SLC13A5):c.490G>A (p.Ala164Thr) rs769026137 0.00001
NM_177550.5(SLC13A5):c.496A>G (p.Thr166Ala) rs1415995914 0.00001
NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr) rs1555542943 0.00001
NM_177550.5(SLC13A5):c.52T>C (p.Phe18Leu) rs1249830087 0.00001
NM_177550.5(SLC13A5):c.547+6C>T rs372687638 0.00001
NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp) rs766313348 0.00001
NM_177550.5(SLC13A5):c.581G>A (p.Gly194Glu) rs772459786 0.00001
NM_177550.5(SLC13A5):c.618_626dup (p.Ala207_Thr209dup) rs1490001751 0.00001
NM_177550.5(SLC13A5):c.650G>A (p.Ser217Asn) rs1200030293 0.00001
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) rs182042247 0.00001
NM_177550.5(SLC13A5):c.689A>G (p.Asn230Ser) rs760650951 0.00001
NM_177550.5(SLC13A5):c.691G>A (p.Val231Met) rs759705331 0.00001
NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp) rs747576233 0.00001
NM_177550.5(SLC13A5):c.742G>A (p.Val248Met) rs1295906896 0.00001
NM_177550.5(SLC13A5):c.901G>A (p.Val301Met) rs1973547380 0.00001
NM_177550.5(SLC13A5):c.944C>T (p.Ala315Val) rs138841868 0.00001
NM_177550.5(SLC13A5):c.955G>A (p.Val319Met) rs199612064 0.00001
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) rs146116408 0.00001
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) rs142301014 0.00001
GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0
NC_000009.11:g.(?_129376729)_(131016993_?)del
NC_000009.11:g.(?_130928476)_(131004634_?)dup
NC_000009.11:g.(?_130965750)_(131016993_?)dup
NC_000009.11:g.(?_131016913)_(131016993_?)del
NC_000009.12:g.(?_128203451)_(128203651_?)dup
NC_000009.12:g.(?_128234001)_(128234127_?)del
NC_000009.12:g.(?_128242212)_(128247506_?)del
NC_000012.11:g.(?_6945914)_(9027627_?)dup
NC_000012.11:g.(?_8211333)_(8248686_?)dup
NC_000012.11:g.(?_8248177)_(8248319_?)del
NC_000012.12:g.(?_7689858)_(8096110_?)dup
NC_000015.10:g.51681311_51791472dup
NC_000016.10:c.(605+1_606-1)_(1056+1_1057-1)dup
NC_000016.10:g.77893032_78561479dup
NC_000017.10:g.(?_5289526)_(6616652_?)dup
NC_000017.10:g.(?_6328780)_(7128416_?)dup
NC_000017.10:g.(?_6607177)_(6616652_?)dup
NC_000017.11:g.(?_6686187)_(6713353_?)dup
NC_000019.10:g.(?_49861228)_(49861901_?)del
NC_000019.10:g.(?_49861228)_(49867224_?)dup
NC_000019.9:g.(?_10828919)_(13482613_?)dup
NC_000019.9:g.(?_12757434)_(13387962_?)dup
NC_000019.9:g.(?_13135448)_(13419362_?)dup
NC_000019.9:g.(?_13135448)_(13574132_?)dup
NC_000019.9:g.(?_13249921)_(13318882_?)dup
NC_000019.9:g.(?_13316256)_(13618274_?)dup
NC_000019.9:g.(?_13318860)_(13321486_?)dup
NC_000019.9:g.(?_13318860)_(13325442_?)dup
NC_000019.9:g.(?_13318860)_(13363935_?)dup
NC_000019.9:g.(?_13355976)_(13356099_?)del
NC_000019.9:g.(?_13363785)_(13363935_?)del
NC_000019.9:g.(?_13372244)_(13373667_?)dup
NC_000019.9:g.(?_49519325)_(50366015_?)dup
NC_000019.9:g.(?_49713446)_(50413064_?)dup
NC_000020.10:g.(?_47989520)_(47991549_?)dup
NC_000020.10:g.(?_48098431)_(48099017_?)dup
NC_000020.10:g.(?_60831241)_(62664346_?)dup
NC_000020.10:g.(?_60831241)_(62680869_?)dup
NC_000020.10:g.(?_61448417)_(62124660_?)del
NC_000020.10:g.(?_61977556)_(62159505_?)del
NC_000020.10:g.(?_61978090)_(62562921_?)dup
NC_000020.10:g.(?_62062673)_(62127408_?)del
NC_000020.10:g.(?_62081939)_(62119720_?)del
NC_000020.10:g.(?_62103511)_(62120515_?)del
NC_000020.10:g.(?_62119631)_62159505del
NC_000020.10:g.(?_62119651)_(62159505_?)del
NC_000020.10:g.(?_62127189)_(62129116_?)dup
NC_000020.10:g.(?_8113279)_(8352117_?)dup
NC_000020.10:g.(?_8113279)_(8862516_?)dup
NC_000020.10:g.(?_8113299)_(8352107_?)dup
NC_000020.10:g.(?_8113299)_(8352117_?)dup
NC_000020.10:g.(?_8608921)_(8609098_?)del
NC_000020.10:g.(?_8608921)_(8862496_?)dup
NC_000020.10:g.(?_8630001)_(8637951_?)del
NC_000020.10:g.(?_8696891)_(8862496_?)dup
NC_000020.10:g.(?_8782683)_(8862516_?)dup
NC_000020.10:g.(?_8862249)_(8862516_?)dup
NC_000020.11:g.(?_48921870)_(49482500_?)del
NC_000020.11:g.(?_49372963)_(49375012_?)del
NC_000020.11:g.(?_63438605)_(63488445_?)del
NC_000020.11:g.(?_63444639)_(63528152_?)del
NC_000020.11:g.(?_63493117)_(63528152_?)del
NC_000020.11:g.(?_8371362)_(8371470_?)del
NC_000020.11:g.(?_8646082)_(8881869_?)dup
NC_000020.11:g.(?_8684912)_(8685098_?)del
NC_000020.11:g.(?_8684912)_(8881869_?)dup
NC_000020.11:g.(?_8757026)_(8881869_?)dup
NC_000020.11:g.49212886_49410642dup
NC_000020.11:g.8722354_8722356del rs1979690177
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe)
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) rs1728466964
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)
NM_000836.4(GRIN2D):c.1033G>A (p.Gly345Ser)
NM_000836.4(GRIN2D):c.1114C>T (p.Arg372Trp)
NM_000836.4(GRIN2D):c.1126T>C (p.Phe376Leu)
NM_000836.4(GRIN2D):c.1556G>A (p.Gly519Asp)
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_000836.4(GRIN2D):c.181G>C (p.Ala61Pro)
NM_000836.4(GRIN2D):c.191C>T (p.Ala64Val)
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala) rs1971296612
NM_000836.4(GRIN2D):c.2393G>A (p.Arg798His)
NM_000836.4(GRIN2D):c.2462G>A (p.Arg821Gln)
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)
NM_000836.4(GRIN2D):c.2957G>T (p.Gly986Val)
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu) rs2147476513
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)
NM_000836.4(GRIN2D):c.3242G>A (p.Gly1081Asp)
NM_000836.4(GRIN2D):c.3340G>A (p.Asp1114Asn)
NM_000836.4(GRIN2D):c.3340GACTCGGAG[3] (p.1114DSE[3]) rs749701862
NM_000836.4(GRIN2D):c.3422A>T (p.Tyr1141Phe)
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)
NM_000836.4(GRIN2D):c.3524C>T (p.Pro1175Leu) rs2147477588
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)
NM_000836.4(GRIN2D):c.3854_3855del (p.Arg1285fs)
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)
NM_000836.4(GRIN2D):c.3910G>T (p.Gly1304Trp)
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val) rs753854352
NM_000836.4(GRIN2D):c.3937C>T (p.Arg1313Trp) rs2147478270
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu) rs544435291
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup) rs919633142
NM_000836.4(GRIN2D):c.4C>A (p.Arg2Ser)
NM_000836.4(GRIN2D):c.763C>G (p.Pro255Ala)
NM_001127221.1(CACNA1A):c.6309_6311delGAG rs750511224
NM_001127221.2(CACNA1A):c.5537G>A (p.Arg1846Gln) rs770936656
NM_001127221.2(CACNA1A):c.5537G>T (p.Arg1846Leu) rs770936656
NM_001127221.2(CACNA1A):c.5546A>T (p.Tyr1849Phe) rs1568440462
NM_001127221.2(CACNA1A):c.5551G>T (p.Asp1851Tyr)
NM_001127221.2(CACNA1A):c.5552A>G (p.Asp1851Gly) rs2055563143
NM_001127221.2(CACNA1A):c.5554A>G (p.Met1852Val) rs2144616837
NM_001127221.2(CACNA1A):c.5560A>G (p.Ser1854Gly)
NM_001127221.2(CACNA1A):c.5569C>G (p.Arg1857Gly)
NM_001127221.2(CACNA1A):c.5570G>A (p.Arg1857Gln) rs1246077018
NM_001127221.2(CACNA1A):c.5575A>G (p.Ile1859Val) rs1432354078
NM_001127221.2(CACNA1A):c.5581C>A (p.Pro1861Thr)
NM_001127221.2(CACNA1A):c.5582C>T (p.Pro1861Leu)
NM_001127221.2(CACNA1A):c.5590G>A (p.Gly1864Ser) rs1001063428
NM_001127221.2(CACNA1A):c.5596G>A (p.Gly1866Ser) rs2144616611
NM_001127221.2(CACNA1A):c.5609C>T (p.Pro1870Leu)
NM_001127221.2(CACNA1A):c.5611C>T (p.His1871Tyr) rs2055560659
NM_001127221.2(CACNA1A):c.5615G>C (p.Arg1872Thr)
NM_001127221.2(CACNA1A):c.5620G>A (p.Ala1874Thr) rs2055560379
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg) rs1085307607
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg)
NM_001127222.2(CACNA1A):c.1016A>G (p.Tyr339Cys)
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu)
NM_001127222.2(CACNA1A):c.1025C>G (p.Pro342Arg)
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser) rs977960069
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
NM_001127222.2(CACNA1A):c.110G>A (p.Arg37Gln)
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln) rs2145132803
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys)
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg) rs2058521134
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr)
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys)
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) rs2058520816
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)
NM_001127222.2(CACNA1A):c.1198+5G>A rs1568544895
NM_001127222.2(CACNA1A):c.1199-7T>A rs2145126181
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=) rs2145126158
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys)
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly) rs2058491087
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser) rs763099796
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser) rs371138043
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) rs2145192584
NM_001127222.2(CACNA1A):c.1255+3A>G
NM_001127222.2(CACNA1A):c.1256-6T>C
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg) rs1225290298
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys)
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del)
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val)
NM_001127222.2(CACNA1A):c.1345+4A>G
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg) rs1194605924
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn) rs768383869
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile)
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val)
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile)
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys)
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn) rs369920914
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys) rs1401413921
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys) rs2145051308
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val)
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu) rs763944721
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val) rs1555762900
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp)
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro)
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly)
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln) rs375210532
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr)
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu) rs2058058208
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val) rs374764234
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)
NM_001127222.2(CACNA1A):c.1663T>C (p.Cys555Arg) rs1600303388
NM_001127222.2(CACNA1A):c.1668+3A>G
NM_001127222.2(CACNA1A):c.1669-3T>C rs750090822
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu)
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly)
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) rs1057519099
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser)
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp) rs1982997781
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala) rs2145005688
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln)
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly) rs2145005615
NM_001127222.2(CACNA1A):c.1748C>T (p.Ala583Val) rs2145005553
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val) rs1599396496
NM_001127222.2(CACNA1A):c.1767T>G (p.Ile589Met)
NM_001127222.2(CACNA1A):c.1781+3A>C
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) rs2145005448
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro) rs2057948232
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe) rs2057947991
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile) rs2145004244
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) rs1600292507
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg) rs2057946815
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser) rs1982996175
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val) rs121908246
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu) rs2145192387
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) rs2057938033
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu) rs2057937902
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn)
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val) rs375173544
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys) rs2145002206
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala) rs2145002197
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met) rs2145002166
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del) rs2057937382
NM_001127222.2(CACNA1A):c.1986+6G>A rs1791823785
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
NM_001127222.2(CACNA1A):c.199G>A (p.Val67Ile)
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys)
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val)
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys) rs1434942721
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn) rs906669300
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His)
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser) rs1064795643
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.2105-9C>G rs1392079452
NM_001127222.2(CACNA1A):c.2105-9C>T
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe) rs2057837052
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser) rs1600283133
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys) rs2057836849
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser) rs2057836815
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu) rs762654239
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe) rs886041654
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=) rs764839814
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly) rs2057836063
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr) rs2144979185
NM_001127222.2(CACNA1A):c.2172+14G>A rs1195908031
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln)
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro) rs2057767797
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly) rs1248327304
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys) rs1982991598
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg)
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys)
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn) rs771905201
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val) rs2057740662
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg)
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg)
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys) rs2144958254
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn)
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr) rs372715067
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile)
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His) rs2144958118
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys) rs2144958094
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val) rs2145192231
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del) rs1568719711
NM_001127222.2(CACNA1A):c.2371G>A (p.Glu791Lys)
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser) rs753248182
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr)
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys)
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn) rs1380195853
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly)
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys)
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg)
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser)
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser) rs772177961
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln) rs2057737782
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu) rs953797733
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg)
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser)
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu)
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met) rs2144957270
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp) rs755434242
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser) rs1464680327
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro) rs1242675074
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser)
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg) rs1293855171
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly)
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile) rs2057735935
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val)
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met) rs1168020406
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro)
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys)
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala) rs2057734618
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu) rs1407784551
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser) rs777076641
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly)
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=)
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=) rs2057733890
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser)
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr) rs1175516920
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser)
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser) rs780462531
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg)
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=) rs761874927
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln)
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val) rs2057732636
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu)
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys)
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln)
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln) rs1171365113
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly) rs2057731579
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg) rs1358948688
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.26C>G (p.Pro9Arg)
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr) rs2057730771
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu) rs1446752227
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro) rs1600272904
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val)
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln) rs953766694
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys) rs1555756130
NM_001127222.2(CACNA1A):c.2755_2769dup (p.Glu919_Gly923dup) rs2057728868
NM_001127222.2(CACNA1A):c.2776G>A (p.Gly926Arg) rs1337217129
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp) rs931394162
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu) rs1318353774
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His) rs1439845382
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val)
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys) rs1439559578
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln)
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp)
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys)
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg)
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu)
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser)
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr)
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu) rs2057726092
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) rs1057518292
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu)
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr) rs2057725846
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro)
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser)
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg) rs1473069840
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys) rs747456771
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln)
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu) rs2144953620
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly) rs1555755916
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu) rs2144953504
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln) rs748418783
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val) rs1432898385
NM_001127222.2(CACNA1A):c.293C>T (p.Pro98Leu) rs2145192098
NM_001127222.2(CACNA1A):c.294-1C>A rs1568662077
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser) rs1367737519
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr) rs376228771
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser)
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val) rs2144953042
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp) rs1489702072
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys)
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val) rs2144952921
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del) rs2144952654
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1]) rs764399373
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln) rs2057722066
NM_001127222.2(CACNA1A):c.2982G>C (p.Glu994Asp) rs2144952767
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup) rs2057721057
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val) rs1002778568
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg) rs750356248
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu)
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn) rs2057721376
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) rs2057721231
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser)
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp)
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu) rs1424294725
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp) rs1175036875
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu)
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp)
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp) rs868354475
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn) rs2057719269
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr)
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln) rs762288499
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
NM_001127222.2(CACNA1A):c.3067G>A (p.Glu1023Lys) rs1555755809
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg) rs2057717972
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly) rs1064794406
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
NM_001127222.2(CACNA1A):c.3089+4A>G
NM_001127222.2(CACNA1A):c.3090-3C>T
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp)
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser) rs1600246766
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp) rs2144889565
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr) rs2057414935
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys) rs1187232740
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) rs2057414205
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His) rs2144889174
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala) rs1600246526
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr)
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg) rs763400188
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His)
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys)
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys) rs1369614864
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr)
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser) rs1467243087
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met) rs2144947382
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser)
NM_001127222.2(CACNA1A):c.3266G>T (p.Gly1089Val)
NM_001127222.2(CACNA1A):c.3307C>T (p.Pro1103Ser)
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe) rs1568495538
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His)
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val)
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys)
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro) rs199745070
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe)
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln) rs754208553
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup) rs770648017
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe) rs2144887797
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser) rs764131315
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr)
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His) rs200333359
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg) rs746555911
NM_001127222.2(CACNA1A):c.3413A>T (p.Lys1138Met)
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe) rs2057405997
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser)
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile) rs992828062
NM_001127222.2(CACNA1A):c.346G>A (p.Ala116Thr) rs778725158
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr)
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr) rs1256731049
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser)
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly) rs766027931
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln)
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr) rs1458640910
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser) rs1057522207
NM_001127222.2(CACNA1A):c.3533T>C (p.Leu1178Pro)
NM_001127222.2(CACNA1A):c.3542C>T (p.Thr1181Ile)
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala)
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr) rs1034876149
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del)
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys)
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe) rs994265107
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser) rs781026181
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys) rs781026181
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) rs1476884019
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)
NM_001127222.2(CACNA1A):c.3652C>T (p.Pro1218Ser)
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn)
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile)
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser)
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
NM_001127222.2(CACNA1A):c.3693-3C>T
NM_001127222.2(CACNA1A):c.3693-4A>G
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=) rs1555751817
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys) rs2057333004
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro) rs373183625
NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe) rs2144871593
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr) rs1085307644
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile) rs2144871559
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala) rs2144947148
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=) rs372970430
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln) rs2057331138
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del) rs1085307864
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp) rs2144871278
NM_001127222.2(CACNA1A):c.3822+6T>C
NM_001127222.2(CACNA1A):c.3822+70A>G rs1462524553
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu) rs995835535
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn) rs1184262651
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu)
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile) rs2057169185
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser)
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile) rs2144839595
NM_001127222.2(CACNA1A):c.3881A>T (p.Lys1294Met)
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile) rs779292782
NM_001127222.2(CACNA1A):c.3922T>G (p.Phe1308Val) rs2144833436
NM_001127222.2(CACNA1A):c.3926G>A (p.Arg1309His) rs1568485102
NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) rs1568485068
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp)
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln)
NM_001127222.2(CACNA1A):c.399+4A>G
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn) rs2056768399
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=) rs2144947082
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) rs2056768058
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr)
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser)
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu) rs2144772824
NM_001127222.2(CACNA1A):c.4089+3G>T
NM_001127222.2(CACNA1A):c.4089+6A>T
NM_001127222.2(CACNA1A):c.4090-3C>T
NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp)
NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu) rs2144767656
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg) rs886041909
NM_001127222.2(CACNA1A):c.4107G>A (p.Val1369=) rs1568472202
NM_001127222.2(CACNA1A):c.4135A>T (p.Ile1379Phe) rs1600195869
NM_001127222.2(CACNA1A):c.4144G>T (p.Val1382Phe) rs2144767519
NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro)
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr) rs2144767456
NM_001127222.2(CACNA1A):c.4171G>T (p.Ala1391Ser) rs1398841527
NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe) rs1600195777
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu) rs794727411
NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser)
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)
NM_001127222.2(CACNA1A):c.4199G>C (p.Gly1400Ala) rs1555745111
NM_001127222.2(CACNA1A):c.4202A>G (p.Lys1401Arg) rs2144767291
NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr)
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu) rs932772664
NM_001127222.2(CACNA1A):c.4250+13T>C
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=)
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu) rs2144758379
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn) rs1443877971
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly) rs2056674575
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly) rs2144936384
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser)
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met) rs2056673232
NM_001127222.2(CACNA1A):c.4388+3A>G
NM_001127222.2(CACNA1A):c.4388+6T>C
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile) rs2144748776
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys) rs2144748587
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys) rs1064795901
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del)
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del)
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn) rs2144748262
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val) rs2144748218
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val) rs2144748158
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn) rs2056600119
NM_001127222.2(CACNA1A):c.4590+5C>G
NM_001127222.2(CACNA1A):c.4590+6A>G
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys) rs2144735318
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser)
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu)
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln) rs775048630
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu)
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr) rs2144735184
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val)
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu)
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu)
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu) rs377082780
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met) rs1568465560
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu) rs1568465560
NM_001127222.2(CACNA1A):c.4687G>T (p.Val1563Leu)
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala)
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser)
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile)
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val) rs1555743201
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr) rs2056510591
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu) rs2056445437
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) rs2056444576
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr) rs2056444494
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp) rs781413708
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu) rs2056443467
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
NM_001127222.2(CACNA1A):c.4867-6T>G rs2056196120
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys) rs771061659
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe) rs1555789107
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu) rs2144692015
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln) rs1417421667
NM_001127222.2(CACNA1A):c.4951-5C>A
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile)
NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe) rs2144649806
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser) rs2145193160
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg)
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg) rs2055850287
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp) rs895744093
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val) rs766623973
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser) rs2144936186
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) rs1442400930
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg) rs2055848608
NM_001127222.2(CACNA1A):c.5058G>C (p.Gln1686His)
NM_001127222.2(CACNA1A):c.5068-3C>T
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His)
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro) rs371273055
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys) rs931963287
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu) rs2055834394
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp)
NM_001127222.2(CACNA1A):c.5133+3G>A
NM_001127222.2(CACNA1A):c.5133+3G>C rs1320790447
NM_001127222.2(CACNA1A):c.5133+5G>A rs2144647781
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg)
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe)
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu)
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys) rs931067957
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn) rs1436816057
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile) rs2144646721
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp) rs2144646626
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe) rs2055823924
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile) rs1210283621
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met)
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=)
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly)
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln) rs781588570
NM_001127222.2(CACNA1A):c.5249G>C (p.Arg1750Pro)
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg)
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met)
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=) rs2144629622
NM_001127222.2(CACNA1A):c.5348A>G (p.Asn1783Ser)
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)
NM_001127222.2(CACNA1A):c.5401-13G>A rs2144622540
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu) rs1600127242
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly) rs267606696
NM_001127222.2(CACNA1A):c.5458T>C (p.Ser1820Pro)
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg) rs2055610097
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=) rs2055609637
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His)
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro)
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys) rs1408989522
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro) rs753229469
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His)
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr) rs923359230
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met) rs1015798325
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln) rs2059326934
NM_001127222.2(CACNA1A):c.5638A>C (p.Met1880Leu)
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) rs2144595037
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val) rs2055369392
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val)
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu)
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met)
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg) rs2144594984
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg) rs751603485
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu) rs2054931821
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn) rs1064794441
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys) rs2144537759
NM_001127222.2(CACNA1A):c.5771A>C (p.Lys1924Thr) rs1181667215
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile) rs1252683687
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu) rs775982911
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp)
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys) rs2144537491
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro)
NM_001127222.2(CACNA1A):c.5839+6A>C rs2144537255
NM_001127222.2(CACNA1A):c.5840-3C>A
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg) rs2144536064
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg)
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr) rs1217161285
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr) rs763611434
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) rs1085307557
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile) rs1005884911
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) rs1057521547
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+18C>G rs1057522421
NM_001127222.2(CACNA1A):c.5940+6C>T rs909499550
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile) rs947850652
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile)
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr) rs2144526659
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)
NM_001127222.2(CACNA1A):c.596T>G (p.Val199Gly)
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu) rs1568424203
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp) rs16045
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup) rs2054858852
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val)
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser) rs1568424111
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp) rs2144559282
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn) rs776574979
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln) rs2059326410
NM_001127222.2(CACNA1A):c.6035A>G (p.Asp2012Gly) rs2144526083
NM_001127222.2(CACNA1A):c.6051-3C>A rs1318280840
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr) rs2144525195
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn) rs2144525162
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg)
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys) rs574805525
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln) rs2144525077
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly) rs2054851950
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg) rs2144559219
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile)
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val) rs2054848687
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn)
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met) rs2144559196
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly)
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr) rs1600089299
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His) rs974724726
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg)
NM_001127222.2(CACNA1A):c.6189+10_6189+65del
NM_001127222.2(CACNA1A):c.6189+3G>A
NM_001127222.2(CACNA1A):c.6189+4C>A rs2054846468
NM_001127222.2(CACNA1A):c.6189+6T>C
NM_001127222.2(CACNA1A):c.6190-8C>T
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val)
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly) rs779221807
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys) rs543458967
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr) rs2144523250
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe)
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val) rs2144523108
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn)
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala) rs2144559143
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln) rs2054835310
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser) rs1244966977
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val) rs1451713531
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala) rs759252101
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr) rs2144522850
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His)
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro) rs2144522708
NM_001127222.2(CACNA1A):c.6303+3G>A
NM_001127222.2(CACNA1A):c.6303+5G>A
NM_001127222.2(CACNA1A):c.6304-13G>A
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys) rs866974416
NM_001127222.2(CACNA1A):c.631+4C>T rs1568581241
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu) rs373229577
NM_001127222.2(CACNA1A):c.632-3C>T
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser) rs758498629
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His) rs867865729
NM_001127222.2(CACNA1A):c.6339+4T>C rs2054775532
NM_001127222.2(CACNA1A):c.6339+4T>G
NM_001127222.2(CACNA1A):c.6339+5G>C rs2144513372
NM_001127222.2(CACNA1A):c.6340-17C>T
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala)
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser) rs2054722290
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup) rs2144506658
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu) rs1317004203
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys) rs1255940553
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His) rs1220294928
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=)
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg) rs1369133711
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn) rs755880731
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp)
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del)
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile) rs1555774867
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly) rs756780624
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) rs1469809752
NM_001127222.2(CACNA1A):c.6462_6494del (p.Arg2155_Arg2165del)
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6473G>T (p.Arg2158Leu)
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr)
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg)
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala)
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly) rs375354077
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) rs1417890059
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn) rs370289732
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6523A>C (p.Thr2175Pro)
NM_001127222.2(CACNA1A):c.6527-7G>A rs1555730686
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro) rs2144502972
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys)
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu)
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe) rs2059190992
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=) rs371116746
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn) rs2144502827
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs)
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu) rs373192655
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val)
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly)
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His) rs2054692765
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala) rs1163864338
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu) rs1983011989
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala) rs1983011989
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn) rs1276672646
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly) rs780467849
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup) rs1247003992
NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup) rs1305974321
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs) rs1568419053
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln) rs1006425986
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln) rs775606907
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp)
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn) rs905447472
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg) rs1600079735
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr) rs2054687055
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu) rs2054686938
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr)
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis)
NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn) rs1307304917
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro) rs1085307607
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis)
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis)
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) rs16052
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn)
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu) rs1181604906
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser)
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.6686C>G (p.Ala2229Gly)
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg) rs936533797
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs) rs2144501233
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val)
NM_001127222.2(CACNA1A):c.6701_6711dup (p.Ala2238fs)
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp)
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr) rs903913051
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg) rs758639263
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys) rs752808137
NM_001127222.2(CACNA1A):c.6710G>A (p.Arg2237Gln) rs765309213
NM_001127222.2(CACNA1A):c.6710G>T (p.Arg2237Leu) rs765309213
NM_001127222.2(CACNA1A):c.6710_6719del (p.Arg2237fs) rs1042488847
NM_001127222.2(CACNA1A):c.6712_6735dup (p.Trp2245_Ser2246insAlaArgAlaArgAspGlnArgTrp)
NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3]) rs1042488847
NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp) rs760428308
NM_001127222.2(CACNA1A):c.6722G>C (p.Arg2241Pro)
NM_001127222.2(CACNA1A):c.6724G>A (p.Asp2242Asn) rs2054681171
NM_001127222.2(CACNA1A):c.6729G>C (p.Gln2243His) rs774078430
NM_001127222.2(CACNA1A):c.6729G>T (p.Gln2243His) rs774078430
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys) rs1021438528
NM_001127222.2(CACNA1A):c.6735G>T (p.Trp2245Cys) rs2054680655
NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys) rs1265035474
NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly)
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys) rs1433873178
NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)
NM_001127222.2(CACNA1A):c.6757C>G (p.Arg2253Gly)
NM_001127222.2(CACNA1A):c.6758G>T (p.Arg2253Leu) rs752950486
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.6773A>G (p.His2258Arg)
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp) rs750267834
NM_001127222.2(CACNA1A):c.6776G>C (p.Arg2259Pro) rs201582095
NM_001127222.2(CACNA1A):c.6780+3G>C rs1307510001
NM_001127222.2(CACNA1A):c.6780+8C>A rs774169958
NM_001127222.2(CACNA1A):c.6784_6788del (p.Ser2262fs)
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn) rs2054633316
NM_001127222.2(CACNA1A):c.685A>G (p.Ile229Val) rs2059190527
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs) rs2144493067
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala) rs1351010453
NM_001127222.2(CACNA1A):c.698T>C (p.Leu233Pro) rs2059190252
NM_001127222.2(CACNA1A):c.7055A>G (p.Asp2352Gly)
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup) rs1568574602
NM_001127222.2(CACNA1A):c.7133A>C (p.Glu2378Ala)
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe) rs2054617641
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val) rs775829854
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu) rs1235870142
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys) rs1397153104
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro) rs1199275549
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) rs2144488387
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)
NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala) rs2059189603
NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe) rs2059189489
NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys)
NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala) rs2059189452
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs) rs2059189334
NM_001127222.2(CACNA1A):c.784+4G>A
NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His)
NM_001127222.2(CACNA1A):c.785-3T>C rs2145245902
NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val) rs2059070159
NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly)
NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly) rs1326606155
NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)
NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu) rs763911399
NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile)
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His)
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg)
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val)
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser) rs749474997
NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg)
NM_001127222.2(CACNA1A):c.985G>A (p.Asp329Asn) rs1353041373
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His) rs1353041373
NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser)
NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)
NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn) rs868778058
NM_001199107.2(TBC1D24):c.-116+125A>C rs2141848023
NM_001199107.2(TBC1D24):c.1115C>A (p.Ser372Tyr)
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.469C>G (p.Arg157Gly)
NM_001199107.2(TBC1D24):c.571T>C (p.Cys191Arg)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.844C>T (p.Pro282Ser) rs865893281
NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser) rs2138742433
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1162A>G (p.Met388Val) rs2138748054
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=) rs1941787074
NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys) rs1308021407
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His) rs1940955829
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr) rs2138828935
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile) rs1942594128
NM_001330260.2(SCN8A):c.2256C>A (p.Asp752Glu)
NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)
NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys) rs1942829767
NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr) rs1942878547
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg) rs1942882733
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala) rs2138868637
NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn) rs1942883632
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr) rs1592151654
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001330260.2(SCN8A):c.3312_3372+4dup
NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3536G>A (p.Gly1179Glu)
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe) rs2138871696
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.368G>A (p.Arg123Lys)
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732
NM_001330260.2(SCN8A):c.3942+248C>G
NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter) rs1555228329
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser) rs796053215
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala) rs2138904540
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4789A>G (p.Ile1597Val)
NM_001330260.2(SCN8A):c.4885C>T (p.Arg1629Cys) rs1592174265
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr) rs996870199
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu) rs1938703650
NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe) rs1938704933
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln) rs1938732126
NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)
NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)
NM_001605.3(AARS1):c.141C>A (p.Asn47Lys)
NM_001605.3(AARS1):c.161T>C (p.Leu54Pro) rs2152167069
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser) rs780249378
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp) rs751300562
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.241A>G (p.Lys81Glu) rs2152167014
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe) rs2152170413
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)
NM_001958.5(EEF1A2):c.1001C>T (p.Pro334Leu) rs574384755
NM_001958.5(EEF1A2):c.1029+3G>A rs111392970
NM_001958.5(EEF1A2):c.1029+3G>C rs111392970
NM_001958.5(EEF1A2):c.1129_1131del (p.Glu377del) rs2082366421
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.1145G>C (p.Arg382Pro)
NM_001958.5(EEF1A2):c.115A>T (p.Ile39Phe)
NM_001958.5(EEF1A2):c.1165G>A (p.Asp389Asn) rs1568994517
NM_001958.5(EEF1A2):c.1169A>G (p.Asn390Ser) rs2145938775
NM_001958.5(EEF1A2):c.1180C>G (p.Leu394Val)
NM_001958.5(EEF1A2):c.1190G>A (p.Gly397Glu) rs2145938753
NM_001958.5(EEF1A2):c.1196C>A (p.Ala399Glu) rs2082366097
NM_001958.5(EEF1A2):c.1263C>A (p.Leu421=)
NM_001958.5(EEF1A2):c.1264+6C>T rs2082365851
NM_001958.5(EEF1A2):c.1268_1269delinsAA (p.Arg423Gln)
NM_001958.5(EEF1A2):c.1285A>G (p.Met429Val)
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
NM_001958.5(EEF1A2):c.1309G>A (p.Val437Ile) rs1057521655
NM_001958.5(EEF1A2):c.1316A>G (p.Lys439Arg) rs1286655873
NM_001958.5(EEF1A2):c.1328A>G (p.Lys443Arg)
NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg) rs372257864
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser) rs2082362096
NM_001958.5(EEF1A2):c.1351G>A (p.Val451Ile)
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1]) rs879255373
NM_001958.5(EEF1A2):c.1369A>G (p.Lys457Glu)
NM_001958.5(EEF1A2):c.137C>T (p.Ala46Val) rs1555883973
NM_001958.5(EEF1A2):c.145-19_145-7dup
NM_001958.5(EEF1A2):c.145-3C>T
NM_001958.5(EEF1A2):c.145-8C>G rs554786640
NM_001958.5(EEF1A2):c.169G>A (p.Ala57Thr)
NM_001958.5(EEF1A2):c.194C>T (p.Ala65Val) rs1238718880
NM_001958.5(EEF1A2):c.206G>A (p.Arg69His)
NM_001958.5(EEF1A2):c.214A>G (p.Thr72Ala)
NM_001958.5(EEF1A2):c.237G>T (p.Lys79Asn)
NM_001958.5(EEF1A2):c.271G>T (p.Asp91Tyr)
NM_001958.5(EEF1A2):c.289G>A (p.Asp97Asn) rs2145945425
NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr) rs2082414008
NM_001958.5(EEF1A2):c.324+2T>G
NM_001958.5(EEF1A2):c.324+5G>A rs762973465
NM_001958.5(EEF1A2):c.324+5dup rs1555883860
NM_001958.5(EEF1A2):c.325-6G>A
NM_001958.5(EEF1A2):c.326C>T (p.Ala109Val)
NM_001958.5(EEF1A2):c.327G>A (p.Ala109=)
NM_001958.5(EEF1A2):c.334G>A (p.Ala112Thr) rs2145944978
NM_001958.5(EEF1A2):c.344T>C (p.Ile115Thr)
NM_001958.5(EEF1A2):c.346G>A (p.Val116Met)
NM_001958.5(EEF1A2):c.346G>T (p.Val116Leu)
NM_001958.5(EEF1A2):c.353C>T (p.Ala118Val)
NM_001958.5(EEF1A2):c.356G>A (p.Gly119Asp) rs2145944958
NM_001958.5(EEF1A2):c.369C>A (p.Phe123Leu)
NM_001958.5(EEF1A2):c.400C>T (p.Arg134Trp) rs1448765509
NM_001958.5(EEF1A2):c.401G>A (p.Arg134Gln)
NM_001958.5(EEF1A2):c.403G>C (p.Glu135Gln) rs2145944903
NM_001958.5(EEF1A2):c.40G>A (p.Gly14Ser) rs750037735
NM_001958.5(EEF1A2):c.43C>T (p.His15Tyr)
NM_001958.5(EEF1A2):c.442C>A (p.Leu148Ile)
NM_001958.5(EEF1A2):c.448G>A (p.Val150Met)
NM_001958.5(EEF1A2):c.452G>A (p.Gly151Asp) rs2082410204
NM_001958.5(EEF1A2):c.453C>T (p.Gly151=) rs764827474
NM_001958.5(EEF1A2):c.475G>T (p.Glu159Ter)
NM_001958.5(EEF1A2):c.480_481delinsAA (p.Ala161Thr) rs1600907762
NM_001958.5(EEF1A2):c.487A>G (p.Ser163Gly) rs1000703611
NM_001958.5(EEF1A2):c.489C>G (p.Ser163Arg)
NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys) rs2145944822
NM_001958.5(EEF1A2):c.496C>T (p.Arg166Cys)
NM_001958.5(EEF1A2):c.497G>A (p.Arg166His)
NM_001958.5(EEF1A2):c.49G>C (p.Asp17His) rs2082424804
NM_001958.5(EEF1A2):c.506A>G (p.Glu169Gly) rs2082409745
NM_001958.5(EEF1A2):c.511G>A (p.Val171Ile)
NM_001958.5(EEF1A2):c.515A>G (p.Lys172Arg)
NM_001958.5(EEF1A2):c.524_525delinsAG (p.Ser175Lys)
NM_001958.5(EEF1A2):c.532A>G (p.Ile178Val)
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe) rs765056369
NM_001958.5(EEF1A2):c.536A>G (p.Lys179Arg) rs2082409506
NM_001958.5(EEF1A2):c.543C>G (p.Ile181Met) rs1057115359
NM_001958.5(EEF1A2):c.562G>A (p.Val188Met)
NM_001958.5(EEF1A2):c.571G>A (p.Val191Met) rs1600907642
NM_001958.5(EEF1A2):c.577A>G (p.Ile193Val)
NM_001958.5(EEF1A2):c.583G>A (p.Gly195Ser)
NM_001958.5(EEF1A2):c.620A>G (p.Asn207Ser) rs1184871645
NM_001958.5(EEF1A2):c.622-3C>T
NM_001958.5(EEF1A2):c.62C>T (p.Ser21Phe)
NM_001958.5(EEF1A2):c.676G>A (p.Val226Met)
NM_001958.5(EEF1A2):c.712C>A (p.Pro238Thr) rs2145943601
NM_001958.5(EEF1A2):c.716C>G (p.Thr239Arg) rs993963334
NM_001958.5(EEF1A2):c.718C>T (p.Arg240Cys)
NM_001958.5(EEF1A2):c.719G>A (p.Arg240His) rs2082399018
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met) rs1064795618
NM_001958.5(EEF1A2):c.727G>A (p.Asp243Asn)
NM_001958.5(EEF1A2):c.737T>C (p.Leu246Pro)
NM_001958.5(EEF1A2):c.757G>A (p.Val253Met)
NM_001958.5(EEF1A2):c.764A>G (p.Lys255Arg) rs2082398761
NM_001958.5(EEF1A2):c.772+5G>A
NM_001958.5(EEF1A2):c.772G>A (p.Gly258Ser) rs2082398711
NM_001958.5(EEF1A2):c.779G>T (p.Gly260Val) rs2082375053
NM_001958.5(EEF1A2):c.782C>T (p.Thr261Met) rs1555883506
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001958.5(EEF1A2):c.824G>C (p.Gly275Ala)
NM_001958.5(EEF1A2):c.827T>C (p.Met276Thr) rs2145940159
NM_001958.5(EEF1A2):c.832G>C (p.Val278Leu)
NM_001958.5(EEF1A2):c.889G>A (p.Glu297Lys) rs1395381555
NM_001958.5(EEF1A2):c.925G>A (p.Gly309Ser) rs921196267
NM_001958.5(EEF1A2):c.94G>A (p.Gly32Arg)
NM_001958.5(EEF1A2):c.958A>G (p.Ile320Val)
NM_001958.5(EEF1A2):c.961C>T (p.Arg321Trp) rs1415254392
NM_001958.5(EEF1A2):c.971A>G (p.Asn324Ser) rs1600903430
NM_001958.5(EEF1A2):c.998C>G (p.Pro333Arg)
NM_003705.4(SLC25A12):c.-67_-66GC[7] rs759200327
NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)
NM_003705.5(SLC25A12):c.13G>A (p.Val5Met) rs201557997
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln) rs2105837625
NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys) rs1685033697
NM_004113.6(FGF12):c.118G>C (p.Asp40His)
NM_004113.6(FGF12):c.125-3181A>G rs1577367655
NM_004113.6(FGF12):c.14-47562G>A
NM_004113.6(FGF12):c.14-47649A>G rs2108776132
NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)
NM_004113.6(FGF12):c.145G>C (p.Val49Leu) rs199832838
NM_004113.6(FGF12):c.457G>A (p.Glu153Lys)
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn) rs2108576388
NM_004113.6(FGF12):c.83A>T (p.Asp28Val)
NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val) rs1851035772
NM_004171.4(SLC1A2):c.1079G>C (p.Gly360Ala)
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
NM_004171.4(SLC1A2):c.1295C>A (p.Ala432Asp)
NM_004171.4(SLC1A2):c.139C>G (p.Leu47Val) rs1851917611
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys) rs1326870463
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
NM_004171.4(SLC1A2):c.257T>A (p.Met86Lys)
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val) rs2134887083
NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr) rs1851734643
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu) rs1851730752
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu) rs751782700
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys) rs1400780690
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp) rs1851499526
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
NM_004171.4(SLC1A2):c.758G>T (p.Gly253Val)
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn) rs148695604
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu) rs367584321
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr) rs1835101754
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter) rs1835102166
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln) rs1428107171
NM_004408.4(DNM1):c.1180A>C (p.Asn394His) rs1835103161
NM_004408.4(DNM1):c.1196+5G>A rs1835103921
NM_004408.4(DNM1):c.1197-10G>A
NM_004408.4(DNM1):c.1197-7C>A rs41306488
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro) rs2131061484
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
NM_004408.4(DNM1):c.1207T>C (p.Phe403Leu)
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) rs866836375
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
NM_004408.4(DNM1):c.1335+1735A>G
NM_004408.4(DNM1):c.1336-7T>G rs550764968
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His) rs1835857400
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp) rs368427334
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu) rs750296552
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp) rs1835858946
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser) rs759483040
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
NM_004408.4(DNM1):c.1422+5del
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
NM_004408.4(DNM1):c.1493+20A>G
NM_004408.4(DNM1):c.1493+3G>C
NM_004408.4(DNM1):c.1493+5G>A rs752004261
NM_004408.4(DNM1):c.1493+7G>A
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del) rs763633863
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser) rs2131061694
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu) rs867314420
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
NM_004408.4(DNM1):c.161+5_161+6delinsTT
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser) rs2131262599
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu) rs2131283540
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
NM_004408.4(DNM1):c.1723G>A (p.Val575Met) rs748647924
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
NM_004408.4(DNM1):c.1781+4C>A
NM_004408.4(DNM1):c.1781+4C>T
NM_004408.4(DNM1):c.1781+5C>T rs1836821115
NM_004408.4(DNM1):c.1782-3C>T
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) rs1588449769
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile) rs1836896799
NM_004408.4(DNM1):c.1892G>A (p.Gly631Glu)
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
NM_004408.4(DNM1):c.1906-3C>T
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del) rs748362979
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp) rs763245663
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile) rs2131148741
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
NM_004408.4(DNM1):c.2065A>G (p.Met689Val)
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
NM_004408.4(DNM1):c.2121G>T (p.Ser707=)
NM_004408.4(DNM1):c.2128G>C (p.Asp710His) rs2131297334
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly) rs1588457823
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln) rs1829428293
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys) rs1829432262
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg) rs754280238
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys) rs1490577876
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr) rs2131299453
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr) rs1286706539
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser) rs1259228242
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val) rs1486970211
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu) rs1829472592
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu) rs1295591580
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu) rs901408697
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
NM_004408.4(DNM1):c.2534+1dup
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn) rs1829479381
NM_004408.4(DNM1):c.2535-1G>A
NM_004408.4(DNM1):c.2535-613C>T rs1385389663
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro) rs758567328
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup) rs1564358652
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu) rs187315526
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val) rs2131314418
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly) rs1316212573
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
NM_004408.4(DNM1):c.320G>A (p.Arg107Lys)
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu) rs776104715
NM_004408.4(DNM1):c.352G>A (p.Val118Met) rs1834758362
NM_004408.4(DNM1):c.359_361dup (p.Ile120_Asn121insIle)
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.38T>C (p.Val13Ala) rs969698049
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
NM_004408.4(DNM1):c.427G>C (p.Val143Leu) rs1834788549
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly) rs1320569379
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys) rs1554772974
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln) rs2131152872
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
NM_004408.4(DNM1):c.588G>A (p.Gln196=) rs1834794265
NM_004408.4(DNM1):c.589+4G>A
NM_004408.4(DNM1):c.589+4G>T rs751407306
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) rs1588355906
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys) rs1444380018
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly) rs1834851998
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp) rs1834860828
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
NM_004408.4(DNM1):c.703G>A (p.Val235Met) rs2131157918
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
NM_004408.4(DNM1):c.786T>A (p.His262Gln) rs1376656660
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser) rs138053929
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys) rs1834865373
NM_004408.4(DNM1):c.821C>T (p.Thr274Met) rs1284660372
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) rs1564332436
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly) rs1835069996
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg) rs1564332523
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys) rs892194903
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
NM_004408.4(DNM1):c.958G>C (p.Asp320His) rs1588368840
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu) rs1833619327
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004408.4(DNM1):c.992+3G>A
NM_004408.4(DNM1):c.993-13_993-11del
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)
NM_004974.4(KCNA2):c.*9361G>A
NM_004974.4(KCNA2):c.1018_1020del (p.Ile340del)
NM_004974.4(KCNA2):c.1022T>C (p.Leu341Pro) rs2101397797
NM_004974.4(KCNA2):c.1028C>T (p.Ser343Phe) rs1557732150
NM_004974.4(KCNA2):c.1028_1037dup (p.Val346_Tyr347insTer) rs2101397670
NM_004974.4(KCNA2):c.1031dup (p.Ser344fs) rs1553181298
NM_004974.4(KCNA2):c.1034C>T (p.Ala345Val) rs2101397708
NM_004974.4(KCNA2):c.1036G>A (p.Val346Met)
NM_004974.4(KCNA2):c.1054G>A (p.Asp352Asn)
NM_004974.4(KCNA2):c.1060C>T (p.Arg354Ter)
NM_004974.4(KCNA2):c.1065G>T (p.Glu355Asp) rs1308544471
NM_004974.4(KCNA2):c.1067C>G (p.Ser356Cys) rs1317841788
NM_004974.4(KCNA2):c.1071G>T (p.Gln357His)
NM_004974.4(KCNA2):c.1103C>A (p.Ala368Glu) rs2101397307
NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)
NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala) rs1557732017
NM_004974.4(KCNA2):c.1129T>C (p.Tyr377His)
NM_004974.4(KCNA2):c.1144C>G (p.Pro382Ala)
NM_004974.4(KCNA2):c.1145C>T (p.Pro382Leu) rs777008812
NM_004974.4(KCNA2):c.1147A>C (p.Thr383Pro) rs2101396868
NM_004974.4(KCNA2):c.1169T>A (p.Val390Glu)
NM_004974.4(KCNA2):c.1169T>G (p.Val390Gly) rs2101396730
NM_004974.4(KCNA2):c.1171G>T (p.Gly391Cys)
NM_004974.4(KCNA2):c.1175C>T (p.Ser392Phe) rs2101396713
NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)
NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)
NM_004974.4(KCNA2):c.1196T>G (p.Val399Gly) rs1649457707
NM_004974.4(KCNA2):c.1204A>G (p.Ile402Val) rs1366237350
NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr) rs2101396495
NM_004974.4(KCNA2):c.1207G>T (p.Ala403Ser)
NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val) rs1649457143
NM_004974.4(KCNA2):c.1211T>C (p.Leu404Ser)
NM_004974.4(KCNA2):c.1213C>T (p.Pro405Ser)
NM_004974.4(KCNA2):c.1214C>G (p.Pro405Arg) rs876657389
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile) rs1553181257
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)
NM_004974.4(KCNA2):c.1242C>A (p.Asn414Lys) rs749520613
NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys) rs749520613
NM_004974.4(KCNA2):c.1248C>A (p.Phe416Leu) rs2101396138
NM_004974.4(KCNA2):c.1250A>G (p.Tyr417Cys) rs1557731858
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp) rs1421981152
NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs) rs1649454214
NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)
NM_004974.4(KCNA2):c.127C>T (p.Arg43Trp) rs2101404053
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)
NM_004974.4(KCNA2):c.1304G>A (p.Cys435Tyr) rs1553181236
NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser) rs1553181236
NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)
NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)
NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala) rs765999960
NM_004974.4(KCNA2):c.1354A>T (p.Thr452Ser) rs765999960
NM_004974.4(KCNA2):c.1372T>C (p.Tyr458His) rs1649446402
NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)
NM_004974.4(KCNA2):c.141G>T (p.Gln47His)
NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)
NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)
NM_004974.4(KCNA2):c.166G>C (p.Glu56Gln)
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_004974.4(KCNA2):c.170C>T (p.Thr57Ile) rs1649517174
NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)
NM_004974.4(KCNA2):c.189G>T (p.Lys63Asn)
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)
NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)
NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter) rs1570753974
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn) rs747844549
NM_004974.4(KCNA2):c.235G>C (p.Asp79His)
NM_004974.4(KCNA2):c.235G>T (p.Asp79Tyr) rs747844549
NM_004974.4(KCNA2):c.238C>T (p.Arg80Trp) rs1448937059
NM_004974.4(KCNA2):c.23C>A (p.Pro8Gln)
NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys) rs1433727837
NM_004974.4(KCNA2):c.245G>A (p.Arg82His) rs1386301058
NM_004974.4(KCNA2):c.260C>G (p.Ala87Gly)
NM_004974.4(KCNA2):c.277C>T (p.Gln93Ter) rs1649511099
NM_004974.4(KCNA2):c.282_283del (p.Gly96fs) rs1570753862
NM_004974.4(KCNA2):c.289C>T (p.Arg97Ter)
NM_004974.4(KCNA2):c.299G>A (p.Arg100Gln) rs1649509246
NM_004974.4(KCNA2):c.308A>C (p.Asn103Thr)
NM_004974.4(KCNA2):c.308A>G (p.Asn103Ser) rs1361080553
NM_004974.4(KCNA2):c.317T>C (p.Leu106Ser) rs2101402741
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe) rs1649507829
NM_004974.4(KCNA2):c.351G>T (p.Glu117Asp) rs1649507257
NM_004974.4(KCNA2):c.356G>A (p.Gly119Glu)
NM_004974.4(KCNA2):c.356G>C (p.Gly119Ala)
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
NM_004974.4(KCNA2):c.364G>A (p.Ala122Thr) rs1366378482
NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)
NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)
NM_004974.4(KCNA2):c.38C>T (p.Ala13Val)
NM_004974.4(KCNA2):c.412C>T (p.Arg138Cys)
NM_004974.4(KCNA2):c.422C>A (p.Pro141His) rs1649502580
NM_004974.4(KCNA2):c.43C>G (p.Leu15Val) rs1649522982
NM_004974.4(KCNA2):c.443_454del (p.Gln148_Leu151del) rs2101401796
NM_004974.4(KCNA2):c.448T>C (p.Trp150Arg) rs1649500367
NM_004974.4(KCNA2):c.450G>T (p.Trp150Cys) rs2101401817
NM_004974.4(KCNA2):c.466C>T (p.Pro156Ser) rs1649498927
NM_004974.4(KCNA2):c.46C>T (p.Pro16Ser) rs1570754155
NM_004974.4(KCNA2):c.47C>G (p.Pro16Arg) rs1649522718
NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)
NM_004974.4(KCNA2):c.488G>A (p.Arg163Lys)
NM_004974.4(KCNA2):c.490A>G (p.Ile164Val)
NM_004974.4(KCNA2):c.494T>A (p.Ile165Lys)
NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)
NM_004974.4(KCNA2):c.520C>A (p.Leu174Met) rs2101401415
NM_004974.4(KCNA2):c.53A>G (p.His18Arg)
NM_004974.4(KCNA2):c.542G>A (p.Cys181Tyr)
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys) rs1553181398
NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)
NM_004974.4(KCNA2):c.559A>G (p.Ile187Val)
NM_004974.4(KCNA2):c.566G>A (p.Arg189Gln)
NM_004974.4(KCNA2):c.569A>T (p.Asp190Val)
NM_004974.4(KCNA2):c.587A>G (p.His196Arg)
NM_004974.4(KCNA2):c.592A>G (p.Ser198Gly) rs1649489553
NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)
NM_004974.4(KCNA2):c.614A>T (p.Tyr205Phe)
NM_004974.4(KCNA2):c.61G>A (p.Asp21Asn)
NM_004974.4(KCNA2):c.621C>A (p.Asn207Lys)
NM_004974.4(KCNA2):c.622A>G (p.Ser208Gly)
NM_004974.4(KCNA2):c.625A>G (p.Thr209Ala) rs1649486218
NM_004974.4(KCNA2):c.626C>T (p.Thr209Ile)
NM_004974.4(KCNA2):c.627del (p.Ile210fs) rs1649486083
NM_004974.4(KCNA2):c.628A>G (p.Ile210Val) rs1649485938
NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg) rs149727427
NM_004974.4(KCNA2):c.640C>A (p.Gln214Lys)
NM_004974.4(KCNA2):c.647C>T (p.Thr216Ile)
NM_004974.4(KCNA2):c.650C>A (p.Ser217Tyr)
NM_004974.4(KCNA2):c.653dup (p.Thr219fs)
NM_004974.4(KCNA2):c.656C>A (p.Thr219Lys)
NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)
NM_004974.4(KCNA2):c.680C>T (p.Thr227Ile) rs2101400149
NM_004974.4(KCNA2):c.684_685del (p.Cys229fs) rs1649483920
NM_004974.4(KCNA2):c.686G>A (p.Cys229Tyr) rs2101400052
NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)
NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser) rs1570753354
NM_004974.4(KCNA2):c.700T>C (p.Ser234Pro) rs2101399899
NM_004974.4(KCNA2):c.71A>C (p.Asp24Ala)
NM_004974.4(KCNA2):c.720_721del (p.Arg240fs)
NM_004974.4(KCNA2):c.727G>C (p.Ala243Pro)
NM_004974.4(KCNA2):c.731G>A (p.Cys244Tyr) rs2101399724
NM_004974.4(KCNA2):c.737G>T (p.Ser246Ile) rs1649481724
NM_004974.4(KCNA2):c.746G>C (p.Gly249Ala)
NM_004974.4(KCNA2):c.74C>T (p.Pro25Leu)
NM_004974.4(KCNA2):c.761T>A (p.Ile254Asn) rs1649480102
NM_004974.4(KCNA2):c.764T>A (p.Met255Lys)
NM_004974.4(KCNA2):c.767A>T (p.Asn256Ile) rs2101399466
NM_004974.4(KCNA2):c.776A>C (p.Asp259Ala) rs1649479585
NM_004974.4(KCNA2):c.781G>T (p.Val261Leu)
NM_004974.4(KCNA2):c.782T>C (p.Val261Ala) rs1649479037
NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)
NM_004974.4(KCNA2):c.806C>T (p.Thr269Ile) rs2101399201
NM_004974.4(KCNA2):c.808del (p.Leu270fs) rs2101399144
NM_004974.4(KCNA2):c.815dup (p.Glu273fs)
NM_004974.4(KCNA2):c.841G>T (p.Ala281Ser) rs753926939
NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter) rs1570753182
NM_004974.4(KCNA2):c.861_862del (p.Met288fs)
NM_004974.4(KCNA2):c.863T>C (p.Met288Thr)
NM_004974.4(KCNA2):c.86A>C (p.His29Pro)
NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)
NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)
NM_004974.4(KCNA2):c.895G>C (p.Val299Leu) rs1553181334
NM_004974.4(KCNA2):c.905_906del (p.Val301_Phe302insTer) rs2101398557
NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)
NM_004974.4(KCNA2):c.920T>G (p.Leu307Trp) rs1649471614
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
NM_004974.4(KCNA2):c.929A>C (p.His310Pro) rs1649470988
NM_004974.4(KCNA2):c.937G>T (p.Gly313Cys) rs2101398263
NM_004974.4(KCNA2):c.941T>C (p.Leu314Pro)
NM_004974.4(KCNA2):c.945G>T (p.Gln315His)
NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe) rs1557732226
NM_004974.4(KCNA2):c.974T>A (p.Met325Lys) rs2101398110
NM_004974.4(KCNA2):c.980A>T (p.Glu327Val) rs2101398077
NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu) rs1557732183
NM_004975.4(KCNB1):c.1006C>T (p.Leu336Phe) rs2146813900
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro) rs1984255406
NM_004975.4(KCNB1):c.1020G>A (p.Met340Ile)
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)
NM_004975.4(KCNB1):c.1052T>C (p.Phe351Ser) rs2146813862
NM_004975.4(KCNB1):c.1065_1066delinsAT (p.Asp355_Glu356delinsGluTer) rs2146813849
NM_004975.4(KCNB1):c.1079del (p.Lys360fs)
NM_004975.4(KCNB1):c.1080G>C (p.Lys360Asn) rs2146813828
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1112CCA[1] (p.Thr372del)
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile) rs1569017148
NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser)
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) rs1569017123
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=) rs1569017109
NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val)
NM_004975.4(KCNB1):c.117del (p.Leu40fs) rs1601162716
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala) rs1984245487
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met) rs1984244898
NM_004975.4(KCNB1):c.1210G>T (p.Val404Leu)
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg) rs2146813607
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val) rs1980525336
NM_004975.4(KCNB1):c.1231A>G (p.Ile411Val)
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1244del (p.Asn415fs)
NM_004975.4(KCNB1):c.126C>G (p.His42Gln) rs1568658526
NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr)
NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln)
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) rs1984239652
NM_004975.4(KCNB1):c.1349T>C (p.Met450Thr)
NM_004975.4(KCNB1):c.1350G>A (p.Met450Ile)
NM_004975.4(KCNB1):c.1358C>T (p.Ala453Val) rs2146813430
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) rs368043123
NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala)
NM_004975.4(KCNB1):c.1394T>G (p.Val465Gly) rs2015314520
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala) rs2146813382
NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser)
NM_004975.4(KCNB1):c.1408G>A (p.Glu470Lys)
NM_004975.4(KCNB1):c.1435C>T (p.Gln479Ter)
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln) rs750701951
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys) rs1388412501
NM_004975.4(KCNB1):c.1496G>C (p.Ser499Thr) rs1984232770
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) rs767889610
NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu) rs2122803715
NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)
NM_004975.4(KCNB1):c.1549T>C (p.Ser517Pro) rs2146813186
NM_004975.4(KCNB1):c.157C>A (p.Pro53Thr)
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) rs1984228484
NM_004975.4(KCNB1):c.1628C>A (p.Pro543His) rs1251785989
NM_004975.4(KCNB1):c.1628C>T (p.Pro543Leu)
NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr)
NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly)
NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala)
NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn)
NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr)
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu) rs544069848
NM_004975.4(KCNB1):c.1727C>G (p.Thr576Arg) rs1355278265
NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro)
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs) rs1984217696
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
NM_004975.4(KCNB1):c.1817A>G (p.His606Arg) rs2146812820
NM_004975.4(KCNB1):c.182G>A (p.Arg61His)
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs) rs2146812741
NM_004975.4(KCNB1):c.1874G>A (p.Gly625Asp) rs2146812721
NM_004975.4(KCNB1):c.1899T>G (p.Ser633Arg)
NM_004975.4(KCNB1):c.1907G>C (p.Arg636Thr) rs2146812675
NM_004975.4(KCNB1):c.1912G>T (p.Val638Leu) rs756972062
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu) rs763718208
NM_004975.4(KCNB1):c.1940G>A (p.Ser647Asn) rs760648723
NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg)
NM_004975.4(KCNB1):c.1946A>G (p.His649Arg)
NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys)
NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser)
NM_004975.4(KCNB1):c.2028C>G (p.Phe676Leu) rs755628300
NM_004975.4(KCNB1):c.2034G>T (p.Glu678Asp)
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro) rs1601069788
NM_004975.4(KCNB1):c.2075A>G (p.His692Arg)
NM_004975.4(KCNB1):c.2079C>G (p.Asp693Glu)
NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
NM_004975.4(KCNB1):c.2134dup (p.Thr712fs)
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) rs1601069538
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
NM_004975.4(KCNB1):c.2197A>T (p.Thr733Ser) rs2146812165
NM_004975.4(KCNB1):c.2200C>A (p.Pro734Thr) rs1214997887
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu) rs1984193843
NM_004975.4(KCNB1):c.2206C>G (p.Arg736Gly)
NM_004975.4(KCNB1):c.2206del (p.Arg736fs) rs759902465
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro) rs151175979
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val) rs1984191107
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn)
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile) rs1209493320
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr) rs1445771227
NM_004975.4(KCNB1):c.2325dup (p.Lys776fs)
NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly) rs1984182896
NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser) rs751639377
NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn)
NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu)
NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) rs1131691752
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser) rs1471856482
NM_004975.4(KCNB1):c.242A>T (p.Asn81Ile) rs2122803550
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)
NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)
NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe) rs1984174923
NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)
NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser) rs2146811676
NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala)
NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu) rs1744051695
NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)
NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr) rs1984172647
NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)
NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)
NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter) rs780416138
NM_004975.4(KCNB1):c.298C>T (p.Arg100Cys)
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter) rs1601162563
NM_004975.4(KCNB1):c.31C>A (p.Arg11Ser)
NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys)
NM_004975.4(KCNB1):c.32G>T (p.Arg11Leu)
NM_004975.4(KCNB1):c.368del (p.Gly123fs)
NM_004975.4(KCNB1):c.407G>A (p.Arg136His) rs1980515306
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile) rs1179147119
NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys)
NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp)
NM_004975.4(KCNB1):c.466C>G (p.Arg156Gly)
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp) rs144926751
NM_004975.4(KCNB1):c.495C>A (p.Asn165Lys) rs1239466410
NM_004975.4(KCNB1):c.525_526del (p.Trp176fs)
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro) rs2122803080
NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro)
NM_004975.4(KCNB1):c.567G>A (p.Lys189=) rs1980508600
NM_004975.4(KCNB1):c.568-12T>G rs1984280025
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys) rs1555889171
NM_004975.4(KCNB1):c.587T>A (p.Ile196Asn)
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe) rs1060499607
NM_004975.4(KCNB1):c.607A>T (p.Thr203Ser)
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
NM_004975.4(KCNB1):c.62T>C (p.Met21Thr)
NM_004975.4(KCNB1):c.635C>T (p.Pro212Leu) rs2146814318
NM_004975.4(KCNB1):c.654T>G (p.Asp218Glu) rs2146814301
NM_004975.4(KCNB1):c.676_685del (p.Asn226fs) rs2146814263
NM_004975.4(KCNB1):c.709A>T (p.Ile237Phe) rs2146814233
NM_004975.4(KCNB1):c.70G>A (p.Val24Met) rs778774389
NM_004975.4(KCNB1):c.70G>T (p.Val24Leu)
NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser)
NM_004975.4(KCNB1):c.718T>A (p.Phe240Ile) rs2146814213
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr)
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.73C>A (p.Arg25Ser)
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys) rs1984270863
NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu) rs1984270019
NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser) rs1984269566
NM_004975.4(KCNB1):c.788A>G (p.Asn263Ser) rs2146814130
NM_004975.4(KCNB1):c.799TTG[1] (p.Leu268del)
NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr)
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro) rs1569017375
NM_004975.4(KCNB1):c.817T>C (p.Tyr273His)
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) rs769852170
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs) rs1601071660
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.878G>A (p.Arg293His)
NM_004975.4(KCNB1):c.890A>G (p.Gln297Arg) rs749981323
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) rs202170806
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) rs1391326211
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_004975.4(KCNB1):c.91C>T (p.Arg31Trp)
NM_004975.4(KCNB1):c.926A>G (p.Lys309Arg)
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr) rs2146813980
NM_004975.4(KCNB1):c.947G>T (p.Gly316Val)
NM_004975.4(KCNB1):c.949C>T (p.Leu317Phe)
NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)
NM_004975.4(KCNB1):c.95G>C (p.Arg32Pro)
NM_004975.4(KCNB1):c.975GAG[3] (p.Arg326_Ser327insArg)
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_007254.4(PNKP):c.1001C>T (p.Ala334Val) rs571217111
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val) rs747297456
NM_007254.4(PNKP):c.1029+3G>A rs1304920403
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1030-12C>A
NM_007254.4(PNKP):c.1030-22_1041dup rs2122325507
NM_007254.4(PNKP):c.1043G>A (p.Arg348His) rs781551273
NM_007254.4(PNKP):c.1047A>T (p.Ser349=)
NM_007254.4(PNKP):c.1049G>A (p.Gly350Glu) rs2122325421
NM_007254.4(PNKP):c.1066G>A (p.Glu356Lys) rs1170743406
NM_007254.4(PNKP):c.1069T>C (p.Ser357Pro)
NM_007254.4(PNKP):c.1070C>T (p.Ser357Phe) rs1359253510
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys) rs1600417301
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu) rs756589726
NM_007254.4(PNKP):c.107G>C (p.Gly36Ala) rs756589726
NM_007254.4(PNKP):c.107G>T (p.Gly36Val) rs756589726
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.1113G>A (p.Val371=) rs1409679685
NM_007254.4(PNKP):c.1126+4A>G rs2122324733
NM_007254.4(PNKP):c.1126+5G>C rs1385764453
NM_007254.4(PNKP):c.1127-20C>T
NM_007254.4(PNKP):c.1127-3C>T
NM_007254.4(PNKP):c.1127-9C>A
NM_007254.4(PNKP):c.1144C>G (p.Leu382Val) rs754921430
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr) rs575803996
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser) rs575803996
NM_007254.4(PNKP):c.1188+5G>A
NM_007254.4(PNKP):c.1189-5C>A rs752826211
NM_007254.4(PNKP):c.121G>C (p.Val41Leu) rs2074826079
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1226G>T (p.Cys409Phe) rs2074769803
NM_007254.4(PNKP):c.124A>G (p.Thr42Ala) rs2074826042
NM_007254.4(PNKP):c.1258G>A (p.Ala420Thr) rs754981151
NM_007254.4(PNKP):c.1263C>G (p.Ile421Met)
NM_007254.4(PNKP):c.1264G>C (p.Asp422His)
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup) rs1258095629
NM_007254.4(PNKP):c.1276C>G (p.Pro426Ala)
NM_007254.4(PNKP):c.1282G>T (p.Ala428Ser) rs1568659088
NM_007254.4(PNKP):c.1285G>T (p.Ala429Ser) rs148386689
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu) rs1568659063
NM_007254.4(PNKP):c.1286C>A (p.Ala429Glu) rs769707108
NM_007254.4(PNKP):c.1288_1298+6dup rs1555810844
NM_007254.4(PNKP):c.1289G>A (p.Ser430Asn)
NM_007254.4(PNKP):c.1290_1298+6dup
NM_007254.4(PNKP):c.1291_1298+5dup rs1568658937
NM_007254.4(PNKP):c.1295_1298+6dup
NM_007254.4(PNKP):c.1296_1297insCCC (p.Ala432_Arg433insPro)
NM_007254.4(PNKP):c.1298+19dup rs1298736755
NM_007254.4(PNKP):c.1303_1305del (p.Val435del) rs2074764505
NM_007254.4(PNKP):c.1304T>C (p.Val435Ala)
NM_007254.4(PNKP):c.1314_1322dup (p.Arg439_Ala441dup) rs2122319196
NM_007254.4(PNKP):c.1315C>G (p.Arg439Gly) rs539286945
NM_007254.4(PNKP):c.1316_1317delinsTT (p.Arg439Leu) rs2074764098
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1321G>A (p.Ala441Thr) rs1351594110
NM_007254.4(PNKP):c.1322C>T (p.Ala441Val) rs549000007
NM_007254.4(PNKP):c.1325G>A (p.Gly442Asp) rs1360064159
NM_007254.4(PNKP):c.1327G>T (p.Val443Phe) rs1421167718
NM_007254.4(PNKP):c.1336C>T (p.Arg446Cys) rs1271713057
NM_007254.4(PNKP):c.1337_1342del (p.Arg446_Phe448delinsLeu) rs2122318958
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007254.4(PNKP):c.1363G>A (p.Glu455Lys) rs2122318761
NM_007254.4(PNKP):c.1367A>G (p.Gln456Arg)
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.1381A>C (p.Asn461His) rs775762473
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1387-3C>A rs1470343514
NM_007254.4(PNKP):c.1387-3C>T
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.1391G>T (p.Arg464Leu)
NM_007254.4(PNKP):c.1400C>A (p.Thr467Lys) rs769109631
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1409C>G (p.Ser470Cys)
NM_007254.4(PNKP):c.1409C>T (p.Ser470Phe) rs1231560062
NM_007254.4(PNKP):c.1412A>C (p.His471Pro) rs142032281
NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu) rs1600414629
NM_007254.4(PNKP):c.1435A>G (p.Met479Val) rs1264163330
NM_007254.4(PNKP):c.1436T>C (p.Met479Thr)
NM_007254.4(PNKP):c.1459G>A (p.Glu487Lys)
NM_007254.4(PNKP):c.1469C>T (p.Thr490Met) rs2122316177
NM_007254.4(PNKP):c.1480G>A (p.Gly494Ser)
NM_007254.4(PNKP):c.1480G>T (p.Gly494Cys) rs753976364
NM_007254.4(PNKP):c.1494C>G (p.Ile498Met) rs368390840
NM_007254.4(PNKP):c.1499A>G (p.Glu500Gly) rs2074753789
NM_007254.4(PNKP):c.1503C>G (p.Ile501Met) rs1293393287
NM_007254.4(PNKP):c.1505C>T (p.Pro502Leu) rs776190168
NM_007254.4(PNKP):c.151+6C>A
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp) rs148669160
NM_007254.4(PNKP):c.1516T>C (p.Trp506Arg) rs2074753341
NM_007254.4(PNKP):c.1518G>C (p.Trp506Cys) rs2122315682
NM_007254.4(PNKP):c.152-17A>C
NM_007254.4(PNKP):c.1531C>T (p.Leu511=) rs1423615371
NM_007254.4(PNKP):c.1534G>A (p.Gly512Arg)
NM_007254.4(PNKP):c.1534G>C (p.Gly512Arg) rs2074752931
NM_007254.4(PNKP):c.1535G>C (p.Gly512Ala)
NM_007254.4(PNKP):c.153G>A (p.Val51=) rs2074821167
NM_007254.4(PNKP):c.1548C>G (p.Cys516Trp) rs745579629
NM_007254.4(PNKP):c.1550A>T (p.Gln517Leu)
NM_007254.4(PNKP):c.1552T>C (p.Phe518Leu) rs979727253
NM_007254.4(PNKP):c.1553T>A (p.Phe518Tyr)
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys) rs770823063
NM_007254.4(PNKP):c.1566A>G (p.Ter522Trp) rs2122315087
NM_007254.4(PNKP):c.161T>A (p.Val54Asp) rs2074821139
NM_007254.4(PNKP):c.176C>T (p.Thr59Ile)
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp) rs761948305
NM_007254.4(PNKP):c.191T>G (p.Val64Gly) rs1600422789
NM_007254.4(PNKP):c.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.200T>G (p.Leu67Arg) rs747002499
NM_007254.4(PNKP):c.224G>T (p.Gly75Val) rs2074810870
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile) rs1600421787
NM_007254.4(PNKP):c.241C>T (p.Pro81Ser) rs1231251848
NM_007254.4(PNKP):c.251A>C (p.Glu84Ala) rs2074810716
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
NM_007254.4(PNKP):c.26_27delinsTT (p.Arg9Leu) rs2074827288
NM_007254.4(PNKP):c.277C>G (p.Leu93Val)
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.314G>T (p.Arg105Leu)
NM_007254.4(PNKP):c.322G>A (p.Glu108Lys)
NM_007254.4(PNKP):c.325A>T (p.Thr109Ser) rs979192418
NM_007254.4(PNKP):c.331A>G (p.Thr111Ala) rs1239561285
NM_007254.4(PNKP):c.331A>T (p.Thr111Ser) rs1239561285
NM_007254.4(PNKP):c.332C>T (p.Thr111Ile) rs756223253
NM_007254.4(PNKP):c.33G>T (p.Trp11Cys) rs577282123
NM_007254.4(PNKP):c.349G>C (p.Asp117His)
NM_007254.4(PNKP):c.365C>T (p.Thr122Ile)
NM_007254.4(PNKP):c.368C>A (p.Pro123His)
NM_007254.4(PNKP):c.374T>C (p.Val125Ala)
NM_007254.4(PNKP):c.386AGA[1] (p.Lys130del)
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.407C>G (p.Pro136Arg)
NM_007254.4(PNKP):c.407_421dup (p.Pro136_Met140dup) rs2074809327
NM_007254.4(PNKP):c.41G>A (p.Ser14Asn) rs749769775
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp) rs755037999
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg) rs751327913
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp) rs551774481
NM_007254.4(PNKP):c.432C>A (p.Asn144Lys) rs367883177
NM_007254.4(PNKP):c.446A>G (p.Asn149Ser)
NM_007254.4(PNKP):c.469A>G (p.Thr157Ala) rs376383779
NM_007254.4(PNKP):c.47C>T (p.Pro16Leu)
NM_007254.4(PNKP):c.496A>C (p.Lys166Gln) rs2074808568
NM_007254.4(PNKP):c.498+3G>T rs2074808518
NM_007254.4(PNKP):c.498G>T (p.Lys166Asn) rs141251138
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu) rs929865929
NM_007254.4(PNKP):c.524C>T (p.Thr175Met) rs2074802994
NM_007254.4(PNKP):c.527T>C (p.Leu176Pro)
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys) rs3739185
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.539G>C (p.Arg180Pro) rs779492301
NM_007254.4(PNKP):c.544G>A (p.Gly182Arg) rs2074802768
NM_007254.4(PNKP):c.576G>C (p.Trp192Cys)
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu) rs1600420665
NM_007254.4(PNKP):c.584T>C (p.Leu195Ser)
NM_007254.4(PNKP):c.587A>T (p.Tyr196Phe) rs138931842
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr) rs201968000
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.593A>C (p.Glu198Ala)
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr) rs1555811465
NM_007254.4(PNKP):c.610C>G (p.Arg204Gly)
NM_007254.4(PNKP):c.61C>T (p.Pro21Ser)
NM_007254.4(PNKP):c.622G>C (p.Ala208Pro)
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys) rs1600420551
NM_007254.4(PNKP):c.636+6_636+7del
NM_007254.4(PNKP):c.637-3C>T rs2074800259
NM_007254.4(PNKP):c.639G>T (p.Leu213=)
NM_007254.4(PNKP):c.666C>G (p.Ile222Met) rs587784369
NM_007254.4(PNKP):c.673G>C (p.Gly225Arg)
NM_007254.4(PNKP):c.683C>T (p.Pro228Leu) rs2122334512
NM_007254.4(PNKP):c.688GAG[1] (p.Glu231del)
NM_007254.4(PNKP):c.703A>G (p.Lys235Glu) rs2122334434
NM_007254.4(PNKP):c.721_723del (p.Glu241del) rs2122334363
NM_007254.4(PNKP):c.731G>A (p.Gly244Glu) rs777786941
NM_007254.4(PNKP):c.731G>T (p.Gly244Val)
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
NM_007254.4(PNKP):c.744+3A>G
NM_007254.4(PNKP):c.745-7_745-6delinsAA
NM_007254.4(PNKP):c.755C>T (p.Ala252Val) rs2122333454
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp) rs368301643
NM_007254.4(PNKP):c.793A>G (p.Met265Val)
NM_007254.4(PNKP):c.7G>A (p.Glu3Lys)
NM_007254.4(PNKP):c.816+3G>A rs763767031
NM_007254.4(PNKP):c.816+4_816+22del rs2122333064
NM_007254.4(PNKP):c.817-3T>C rs2074787691
NM_007254.4(PNKP):c.820A>G (p.Asn274Asp) rs1463305699
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del) rs1600418728
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.823G>T (p.Asp275Tyr)
NM_007254.4(PNKP):c.825C>G (p.Asp275Glu) rs2074787530
NM_007254.4(PNKP):c.826G>A (p.Gly276Ser) rs746254179
NM_007254.4(PNKP):c.826G>C (p.Gly276Arg) rs746254179
NM_007254.4(PNKP):c.827G>A (p.Gly276Asp)
NM_007254.4(PNKP):c.831_832delinsCT (p.Pro278Ser)
NM_007254.4(PNKP):c.853A>T (p.Ile285Phe) rs750224965
NM_007254.4(PNKP):c.884C>G (p.Ala295Gly)
NM_007254.4(PNKP):c.884C>T (p.Ala295Val) rs753695701
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.910_912del (p.Lys304del) rs2122328280
NM_007254.4(PNKP):c.911A>C (p.Lys304Thr)
NM_007254.4(PNKP):c.913G>A (p.Asp305Asn)
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe) rs1555811168
NM_007254.4(PNKP):c.920_922del (p.Ser307del) rs886042225
NM_007254.4(PNKP):c.922T>C (p.Cys308Arg) rs2074784418
NM_007254.4(PNKP):c.924C>G (p.Cys308Trp) rs771622669
NM_007254.4(PNKP):c.928G>T (p.Asp310Tyr)
NM_007254.4(PNKP):c.936+5G>A rs954048668
NM_007254.4(PNKP):c.943C>T (p.Leu315Phe)
NM_007254.4(PNKP):c.964G>A (p.Ala322Thr)
NM_007254.4(PNKP):c.986T>C (p.Leu329Pro) rs2074781406
NM_015192.4(PLCB1):c.*1081T>C rs573965594
NM_015192.4(PLCB1):c.*1173G>A rs1988050698
NM_015192.4(PLCB1):c.*1342A>C rs1988056532
NM_015192.4(PLCB1):c.*1409A>G rs886056975
NM_015192.4(PLCB1):c.*1473T>A rs1988060561
NM_015192.4(PLCB1):c.*1707A>C rs708910
NM_015192.4(PLCB1):c.*2205C>A rs534913354
NM_015192.4(PLCB1):c.*57T>C rs928795274
NM_015192.4(PLCB1):c.*589G>A rs1988029728
NM_015192.4(PLCB1):c.*743T>C rs886056971
NM_015192.4(PLCB1):c.-222C>G rs1600186673
NM_015192.4(PLCB1):c.-296A>G rs1600186615
NM_015192.4(PLCB1):c.-311T>G rs1370389155
NM_015192.4(PLCB1):c.1010-3T>A rs2123427893
NM_015192.4(PLCB1):c.1049G>A (p.Arg350His) rs909616713
NM_015192.4(PLCB1):c.106A>G (p.Thr36Ala) rs377750225
NM_015192.4(PLCB1):c.1073G>A (p.Arg358His)
NM_015192.4(PLCB1):c.1078G>C (p.Val360Leu) rs1224516482
NM_015192.4(PLCB1):c.113T>C (p.Val38Ala)
NM_015192.4(PLCB1):c.1159T>C (p.Ser387Pro)
NM_015192.4(PLCB1):c.1167+5A>G
NM_015192.4(PLCB1):c.1167+6G>A rs2123428266
NM_015192.4(PLCB1):c.1187C>T (p.Ala396Val)
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.1249T>G (p.Ser417Ala)
NM_015192.4(PLCB1):c.1274C>T (p.Ala425Val) rs1171674168
NM_015192.4(PLCB1):c.1286G>A (p.Arg429Gln) rs551873449
NM_015192.4(PLCB1):c.1288C>A (p.Leu430Met) rs1979306410
NM_015192.4(PLCB1):c.1303G>A (p.Ala435Thr)
NM_015192.4(PLCB1):c.1319C>A (p.Pro440His)
NM_015192.4(PLCB1):c.1323G>A (p.Leu441=) rs1231131549
NM_015192.4(PLCB1):c.1324G>A (p.Glu442Lys) rs1356153164
NM_015192.4(PLCB1):c.1368G>A (p.Met456Ile) rs1979399616
NM_015192.4(PLCB1):c.1379A>G (p.Tyr460Cys) rs1600272774
NM_015192.4(PLCB1):c.1408T>C (p.Ser470Pro) rs1208741312
NM_015192.4(PLCB1):c.1417T>C (p.Ser473Pro) rs896514396
NM_015192.4(PLCB1):c.1463A>T (p.Asn488Ile)
NM_015192.4(PLCB1):c.1473T>A (p.Ser491Arg) rs2123468950
NM_015192.4(PLCB1):c.1501T>G (p.Ser501Ala) rs763886018
NM_015192.4(PLCB1):c.1508G>A (p.Gly503Glu)
NM_015192.4(PLCB1):c.1538A>G (p.Asp513Gly) rs941680744
NM_015192.4(PLCB1):c.1544A>T (p.Asp515Val) rs1568573426
NM_015192.4(PLCB1):c.1557C>A (p.Asp519Glu) rs1979694638
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.1573A>T (p.Met525Leu) rs138851178
NM_015192.4(PLCB1):c.1591G>C (p.Gly531Arg) rs1979835329
NM_015192.4(PLCB1):c.1603A>G (p.Met535Val) rs1979835703
NM_015192.4(PLCB1):c.1685A>G (p.Asn562Ser) rs1319493393
NM_015192.4(PLCB1):c.171A>C (p.Gln57His) rs2123032607
NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys) rs1600279991
NM_015192.4(PLCB1):c.1754A>G (p.Glu585Gly)
NM_015192.4(PLCB1):c.1763+2T>G rs1568574966
NM_015192.4(PLCB1):c.1764A>T (p.Glu588Asp) rs1334933670
NM_015192.4(PLCB1):c.177+8_177+13del
NM_015192.4(PLCB1):c.1773A>T (p.Lys591Asn) rs2123491392
NM_015192.4(PLCB1):c.1774A>T (p.Met592Leu) rs1457373665
NM_015192.4(PLCB1):c.178-3C>T rs2122343481
NM_015192.4(PLCB1):c.1808G>T (p.Arg603Leu)
NM_015192.4(PLCB1):c.1813G>T (p.Asp605Tyr) rs2123491460
NM_015192.4(PLCB1):c.1831C>T (p.Pro611Ser) rs1980094549
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val) rs1555786704
NM_015192.4(PLCB1):c.1957G>C (p.Glu653Gln) rs2123500903
NM_015192.4(PLCB1):c.196C>T (p.Leu66Phe) rs2122343584
NM_015192.4(PLCB1):c.1970G>A (p.Arg657Lys) rs1980372070
NM_015192.4(PLCB1):c.199A>C (p.Ser67Arg) rs1986899325
NM_015192.4(PLCB1):c.2008G>T (p.Val670Leu) rs772981786
NM_015192.4(PLCB1):c.200G>C (p.Ser67Thr) rs775742325
NM_015192.4(PLCB1):c.2015G>A (p.Gly672Glu) rs1555786715
NM_015192.4(PLCB1):c.2017A>G (p.Ile673Val)
NM_015192.4(PLCB1):c.209A>G (p.Lys70Arg)
NM_015192.4(PLCB1):c.2138T>G (p.Phe713Cys) rs2123510528
NM_015192.4(PLCB1):c.2141A>G (p.Lys714Arg) rs2123510534
NM_015192.4(PLCB1):c.214G>A (p.Ala72Thr) rs2122343640
NM_015192.4(PLCB1):c.2176G>C (p.Val726Leu)
NM_015192.4(PLCB1):c.2213T>C (p.Val738Ala) rs1980744187
NM_015192.4(PLCB1):c.223G>A (p.Gly75Arg)
NM_015192.4(PLCB1):c.2243C>T (p.Ala748Val) rs1980745626
NM_015192.4(PLCB1):c.2251G>A (p.Glu751Lys)
NM_015192.4(PLCB1):c.2270T>C (p.Ile757Thr) rs1488351224
NM_015192.4(PLCB1):c.2278C>T (p.Arg760Cys) rs1194618095
NM_015192.4(PLCB1):c.2290G>C (p.Val764Leu)
NM_015192.4(PLCB1):c.2293C>G (p.Gln765Glu) rs1980748318
NM_015192.4(PLCB1):c.2302C>T (p.Arg768Trp)
NM_015192.4(PLCB1):c.2318A>T (p.Tyr773Phe) rs948237591
NM_015192.4(PLCB1):c.2320A>T (p.Ile774Phe)
NM_015192.4(PLCB1):c.2324G>A (p.Cys775Tyr) rs1209875193
NM_015192.4(PLCB1):c.2335G>A (p.Glu779Lys)
NM_015192.4(PLCB1):c.2346G>C (p.Gln782His) rs2123518683
NM_015192.4(PLCB1):c.2347C>A (p.Pro783Thr) rs1980812475
NM_015192.4(PLCB1):c.2377A>G (p.Ile793Val) rs1980815338
NM_015192.4(PLCB1):c.2413+3A>C rs2123518817
NM_015192.4(PLCB1):c.2413+6C>A
NM_015192.4(PLCB1):c.2422G>A (p.Glu808Lys)
NM_015192.4(PLCB1):c.242C>T (p.Pro81Leu) rs2122343800
NM_015192.4(PLCB1):c.2446T>C (p.Tyr816His)
NM_015192.4(PLCB1):c.2449G>A (p.Val817Met) rs1568580795
NM_015192.4(PLCB1):c.2458A>T (p.Met820Leu)
NM_015192.4(PLCB1):c.245A>T (p.Lys82Met) rs1600350860
NM_015192.4(PLCB1):c.247-3C>A rs1568534926
NM_015192.4(PLCB1):c.2494C>G (p.Leu832Val) rs2123521466
NM_015192.4(PLCB1):c.2504AAG[2] (p.Glu837del) rs1213359058
NM_015192.4(PLCB1):c.2506G>A (p.Glu836Lys) rs1980880915
NM_015192.4(PLCB1):c.2507A>G (p.Glu836Gly)
NM_015192.4(PLCB1):c.250C>A (p.Pro84Thr)
NM_015192.4(PLCB1):c.251C>T (p.Pro84Leu) rs781293608
NM_015192.4(PLCB1):c.2523+3G>A rs2123521598
NM_015192.4(PLCB1):c.2543C>T (p.Pro848Leu) rs2123562586
NM_015192.4(PLCB1):c.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.2560G>C (p.Glu854Gln) rs1227346164
NM_015192.4(PLCB1):c.2565G>C (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2569A>G (p.Thr857Ala)
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.2609T>C (p.Leu870Pro) rs1171306759
NM_015192.4(PLCB1):c.2611A>G (p.Thr871Ala) rs1981777815
NM_015192.4(PLCB1):c.2614C>A (p.Pro872Thr) rs769110563
NM_015192.4(PLCB1):c.2619G>T (p.Lys873Asn) rs1981778719
NM_015192.4(PLCB1):c.2623C>T (p.Pro875Ser) rs1568586909
NM_015192.4(PLCB1):c.2624C>A (p.Pro875His) rs1386644525
NM_015192.4(PLCB1):c.2650G>A (p.Ala884Thr) rs1274123563
NM_015192.4(PLCB1):c.265C>A (p.Leu89Ile) rs1988421541
NM_015192.4(PLCB1):c.2669C>T (p.Ala890Val) rs2123572097
NM_015192.4(PLCB1):c.2680A>G (p.Thr894Ala) rs2123572151
NM_015192.4(PLCB1):c.2708C>A (p.Thr903Lys) rs775341189
NM_015192.4(PLCB1):c.2779T>C (p.Tyr927His) rs2123585864
NM_015192.4(PLCB1):c.2788A>G (p.Met930Val)
NM_015192.4(PLCB1):c.2789T>C (p.Met930Thr)
NM_015192.4(PLCB1):c.2797C>G (p.Leu933Val) rs143664316
NM_015192.4(PLCB1):c.2798T>C (p.Leu933Pro) rs147191017
NM_015192.4(PLCB1):c.2807G>A (p.Arg936Lys) rs1982257294
NM_015192.4(PLCB1):c.2813A>G (p.His938Arg) rs1982257980
NM_015192.4(PLCB1):c.2830C>A (p.Leu944Ile) rs561685256
NM_015192.4(PLCB1):c.2830C>G (p.Leu944Val) rs561685256
NM_015192.4(PLCB1):c.2836A>G (p.Lys946Glu)
NM_015192.4(PLCB1):c.283A>C (p.Ile95Leu) rs199888561
NM_015192.4(PLCB1):c.2844C>A (p.His948Gln)
NM_015192.4(PLCB1):c.290G>A (p.Arg97His) rs747785129
NM_015192.4(PLCB1):c.2951A>G (p.Asp984Gly)
NM_015192.4(PLCB1):c.295G>C (p.Glu99Gln) rs1555777814
NM_015192.4(PLCB1):c.2965A>G (p.Thr989Ala)
NM_015192.4(PLCB1):c.2966C>A (p.Thr989Lys) rs1982851592
NM_015192.4(PLCB1):c.2966C>T (p.Thr989Met)
NM_015192.4(PLCB1):c.29C>G (p.Ala10Gly) rs1568564198
NM_015192.4(PLCB1):c.29C>T (p.Ala10Val) rs1568564198
NM_015192.4(PLCB1):c.3004A>C (p.Thr1002Pro) rs1358746132
NM_015192.4(PLCB1):c.3015A>C (p.Leu1005Phe) rs765989029
NM_015192.4(PLCB1):c.3016A>G (p.Ile1006Val) rs2146203878
NM_015192.4(PLCB1):c.3052A>G (p.Asn1018Asp) rs2146203906
NM_015192.4(PLCB1):c.3058C>T (p.Arg1020Trp) rs1023330264
NM_015192.4(PLCB1):c.3071A>G (p.Tyr1024Cys) rs1982859175
NM_015192.4(PLCB1):c.3112-10_3112-8del rs1163689360
NM_015192.4(PLCB1):c.3115A>C (p.Ile1039Leu)
NM_015192.4(PLCB1):c.3127A>G (p.Thr1043Ala) rs1983594595
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser) rs778097231
NM_015192.4(PLCB1):c.3143A>C (p.Glu1048Ala) rs2146220200
NM_015192.4(PLCB1):c.316G>A (p.Val106Met)
NM_015192.4(PLCB1):c.316G>C (p.Val106Leu) rs1181797347
NM_015192.4(PLCB1):c.3188+5G>C rs2146220264
NM_015192.4(PLCB1):c.3188A>C (p.Lys1063Thr) rs1371029553
NM_015192.4(PLCB1):c.3215T>C (p.Met1072Thr)
NM_015192.4(PLCB1):c.3238A>G (p.Ile1080Val) rs1303531069
NM_015192.4(PLCB1):c.3239T>C (p.Ile1080Thr) rs1983606408
NM_015192.4(PLCB1):c.325C>T (p.Pro109Ser) rs748150163
NM_015192.4(PLCB1):c.3271A>G (p.Met1091Val)
NM_015192.4(PLCB1):c.3272T>C (p.Met1091Thr)
NM_015192.4(PLCB1):c.3273G>A (p.Met1091Ile) rs1983608682
NM_015192.4(PLCB1):c.3278+13T>C rs886056965
NM_015192.4(PLCB1):c.331C>T (p.Leu111Phe) rs373051695
NM_015192.4(PLCB1):c.3336+3A>G rs773248262
NM_015192.4(PLCB1):c.3337-3T>C rs778662535
NM_015192.4(PLCB1):c.3337-6T>G rs2146222772
NM_015192.4(PLCB1):c.3341A>T (p.Glu1114Val) rs1983683540
NM_015192.4(PLCB1):c.3346G>A (p.Ala1116Thr) rs1983683787
NM_015192.4(PLCB1):c.3358C>T (p.Arg1120Trp) rs2146222855
NM_015192.4(PLCB1):c.3364G>A (p.Glu1122Lys)
NM_015192.4(PLCB1):c.3370C>T (p.Leu1124Phe) rs1983685665
NM_015192.4(PLCB1):c.3373G>T (p.Val1125Leu) rs773333771
NM_015192.4(PLCB1):c.3394C>A (p.Arg1132Ser) rs755357721
NM_015192.4(PLCB1):c.3394C>G (p.Arg1132Gly) rs755357721
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.3400C>G (p.Gln1134Glu)
NM_015192.4(PLCB1):c.3419C>A (p.Pro1140His) rs2146222951
NM_015192.4(PLCB1):c.3423G>A (p.Lys1141=) rs2146222958
NM_015192.4(PLCB1):c.3447A>C (p.Glu1149Asp) rs142432676
NM_015192.4(PLCB1):c.3449A>G (p.Tyr1150Cys) rs1265159999
NM_015192.4(PLCB1):c.3487G>C (p.Glu1163Gln)
NM_015192.4(PLCB1):c.348T>A (p.His116Gln) rs965963245
NM_015192.4(PLCB1):c.3507G>A (p.Met1169Ile) rs2146337606
NM_015192.4(PLCB1):c.3525A>C (p.Glu1175Asp) rs1455824326
NM_015192.4(PLCB1):c.3532A>T (p.Asn1178Tyr)
NM_015192.4(PLCB1):c.3545C>T (p.Ala1182Val) rs1028186212
NM_015192.4(PLCB1):c.3553T>C (p.Ser1185Pro) rs1988000094
NM_015192.4(PLCB1):c.3559_3563del (p.Ser1187fs) rs2146337709
NM_015192.4(PLCB1):c.3566A>G (p.Asp1189Gly)
NM_015192.4(PLCB1):c.3589A>G (p.Thr1197Ala) rs199568969
NM_015192.4(PLCB1):c.3619A>G (p.Ile1207Val) rs754119167
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.368AAG[2] (p.Glu125del) rs766595102
NM_015192.4(PLCB1):c.369A>C (p.Gln123His) rs755560918
NM_015192.4(PLCB1):c.384+3A>G
NM_015192.4(PLCB1):c.400G>A (p.Val134Ile) rs1199339071
NM_015192.4(PLCB1):c.406A>T (p.Ser136Cys)
NM_015192.4(PLCB1):c.413C>T (p.Ala138Val) rs2123285821
NM_015192.4(PLCB1):c.425T>C (p.Leu142Pro) rs2123285875
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
NM_015192.4(PLCB1):c.438G>A (p.Met146Ile) rs1989165148
NM_015192.4(PLCB1):c.446A>T (p.Asp149Val) rs2123285994
NM_015192.4(PLCB1):c.465C>T (p.Ala155=)
NM_015192.4(PLCB1):c.469A>G (p.Thr157Ala) rs2123290762
NM_015192.4(PLCB1):c.480G>T (p.Lys160Asn)
NM_015192.4(PLCB1):c.509C>T (p.Pro170Leu) rs1989211414
NM_015192.4(PLCB1):c.520A>G (p.Ile174Val) rs748138827
NM_015192.4(PLCB1):c.568G>A (p.Glu190Lys) rs2123295095
NM_015192.4(PLCB1):c.598G>A (p.Asp200Asn) rs2123318774
NM_015192.4(PLCB1):c.611A>T (p.Gln204Leu) rs1989486420
NM_015192.4(PLCB1):c.612A>T (p.Gln204His) rs1989486497
NM_015192.4(PLCB1):c.619T>A (p.Phe207Ile) rs1358940714
NM_015192.4(PLCB1):c.62G>A (p.Ser21Asn) rs2122992000
NM_015192.4(PLCB1):c.650A>G (p.Asn217Ser)
NM_015192.4(PLCB1):c.654C>A (p.Asn218Lys)
NM_015192.4(PLCB1):c.664C>G (p.Arg222Gly) rs990536521
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln) rs755135706
NM_015192.4(PLCB1):c.673A>C (p.Ile225Leu) rs1989488581
NM_015192.4(PLCB1):c.682A>G (p.Ile228Val) rs1600230250
NM_015192.4(PLCB1):c.695+6_695+7del rs749649429
NM_015192.4(PLCB1):c.737T>C (p.Met246Thr)
NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867
NM_015192.4(PLCB1):c.778G>C (p.Glu260Gln) rs2123322675
NM_015192.4(PLCB1):c.781A>G (p.Ile261Val) rs1568549591
NM_015192.4(PLCB1):c.801A>G (p.Lys267=) rs1568549600
NM_015192.4(PLCB1):c.803A>G (p.Gln268Arg) rs1989533526
NM_015192.4(PLCB1):c.806A>G (p.Glu269Gly) rs1989533771
NM_015192.4(PLCB1):c.807G>T (p.Glu269Asp) rs1222914240
NM_015192.4(PLCB1):c.857G>A (p.Arg286Lys) rs1420410909
NM_015192.4(PLCB1):c.863-7C>G rs1990322418
NM_015192.4(PLCB1):c.875T>C (p.Val292Ala) rs370605921
NM_015192.4(PLCB1):c.890G>T (p.Arg297Leu)
NM_015192.4(PLCB1):c.89A>G (p.Lys30Arg) rs772081862
NM_015192.4(PLCB1):c.900T>G (p.Ser300Arg)
NM_015192.4(PLCB1):c.902G>C (p.Gly301Ala) rs2123399482
NM_015192.4(PLCB1):c.928G>A (p.Glu310Lys)
NM_015192.4(PLCB1):c.995A>G (p.Asn332Ser)
NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr) rs2120475831
NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys) rs1555168520
NM_015509.4(NECAP1):c.11A>G (p.Glu4Gly) rs1191200725
NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn) rs2120475973
NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe) rs1947528448
NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser) rs1947530992
NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser) rs2120476836
NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)
NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)
NM_015509.4(NECAP1):c.244G>A (p.Val82Met) rs1947531325
NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys) rs374365372
NM_015509.4(NECAP1):c.26C>G (p.Ser9Cys)
NM_015509.4(NECAP1):c.302-12C>G
NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)
NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)
NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser) rs2120482566
NM_015509.4(NECAP1):c.383+3G>T rs1555169180
NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)
NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg) rs2120485560
NM_015509.4(NECAP1):c.427A>G (p.Met143Val)
NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu) rs769210779
NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu) rs368565295
NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly) rs2120485644
NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)
NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)
NM_015509.4(NECAP1):c.515G>T (p.Gly172Val)
NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys) rs934424311
NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)
NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg) rs764080699
NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile) rs765855460
NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)
NM_015509.4(NECAP1):c.629T>C (p.Val210Ala) rs1205804172
NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe) rs371472296
NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)
NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly) rs2120487076
NM_015509.4(NECAP1):c.68C>T (p.Pro23Leu) rs1947447226
NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)
NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)
NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)
NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser) rs1555169422
NM_015509.4(NECAP1):c.734T>C (p.Val245Ala) rs2120495324
NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe) rs1947587871
NM_015509.4(NECAP1):c.765C>T (p.Phe255=)
NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn) rs2120495561
NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys) rs1264229871
NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp) rs2120496634
NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu) rs1427000545
NM_015509.4(NECAP1):c.797C>T (p.Ala266Val) rs1020014973
NM_015509.4(NECAP1):c.818T>C (p.Val273Ala) rs2120496797
NM_015509.4(NECAP1):c.822G>C (p.Gln274His)
NM_015509.4(NECAP1):c.88G>C (p.Gly30Arg)
NM_015509.4(NECAP1):c.8C>G (p.Thr3Ser)
NM_015509.4(NECAP1):c.95+3A>T
NM_015509.4(NECAP1):c.95+4C>T
NM_016373.4(WWOX):c.*15G>T rs533890923
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter) rs200839945
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu) rs765857107
NM_016373.4(WWOX):c.16T>C (p.Tyr6His) rs1239497096
NM_016373.4(WWOX):c.172+5G>A
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.410G>T (p.Gly137Val) rs761879076
NM_016373.4(WWOX):c.461C>A (p.Ala154Asp)
NM_016373.4(WWOX):c.517C>T (p.His173Tyr) rs777272586
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg) rs2083042603
NM_016373.4(WWOX):c.791+18A>T rs1023123497
NM_020708.5(SLC12A5):c.1007C>G (p.Thr336Ser)
NM_020708.5(SLC12A5):c.1024G>A (p.Glu342Lys) rs2084547129
NM_020708.5(SLC12A5):c.1033G>A (p.Gly345Ser) rs909559043
NM_020708.5(SLC12A5):c.1060A>G (p.Ile354Val) rs961067707
NM_020708.5(SLC12A5):c.1066+5G>T
NM_020708.5(SLC12A5):c.1066+6C>T
NM_020708.5(SLC12A5):c.1084T>A (p.Tyr362Asn)
NM_020708.5(SLC12A5):c.108G>C (p.Lys36Asn) rs970629633
NM_020708.5(SLC12A5):c.1093A>G (p.Lys365Glu) rs1747278164
NM_020708.5(SLC12A5):c.1098C>T (p.Gly366=) rs770170831
NM_020708.5(SLC12A5):c.109G>C (p.Gly37Arg)
NM_020708.5(SLC12A5):c.1112G>A (p.Arg371Lys) rs2145491395
NM_020708.5(SLC12A5):c.1124C>T (p.Thr375Ile) rs772033105
NM_020708.5(SLC12A5):c.1132G>A (p.Gly378Ser) rs2080922672
NM_020708.5(SLC12A5):c.1144G>A (p.Gly382Ser) rs1450320682
NM_020708.5(SLC12A5):c.1145G>A (p.Gly382Asp)
NM_020708.5(SLC12A5):c.1148C>A (p.Thr383Asn) rs201727005
NM_020708.5(SLC12A5):c.1159A>G (p.Met387Val)
NM_020708.5(SLC12A5):c.1161G>A (p.Met387Ile) rs771205120
NM_020708.5(SLC12A5):c.1168C>G (p.Pro390Ala)
NM_020708.5(SLC12A5):c.1174G>A (p.Val392Ile) rs2145491521
NM_020708.5(SLC12A5):c.1196A>G (p.Tyr399Cys)
NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) rs368484023
NM_020708.5(SLC12A5):c.124G>T (p.Gly42Cys) rs2145481710
NM_020708.5(SLC12A5):c.1259G>A (p.Arg420His) rs757586510
NM_020708.5(SLC12A5):c.1291A>G (p.Ile431Val)
NM_020708.5(SLC12A5):c.1301G>A (p.Gly434Asp) rs2084568578
NM_020708.5(SLC12A5):c.1334T>C (p.Val445Ala) rs2145492118
NM_020708.5(SLC12A5):c.1363G>A (p.Ala455Thr)
NM_020708.5(SLC12A5):c.1374G>C (p.Glu458Asp)
NM_020708.5(SLC12A5):c.1387C>G (p.Arg463Gly)
NM_020708.5(SLC12A5):c.1387C>T (p.Arg463Trp) rs769265263
NM_020708.5(SLC12A5):c.1423G>A (p.Val475Met) rs1304092442
NM_020708.5(SLC12A5):c.143T>C (p.Phe48Ser)
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro) rs2084581427
NM_020708.5(SLC12A5):c.1465A>T (p.Ile489Phe) rs2084581563
NM_020708.5(SLC12A5):c.147G>A (p.Glu49=) rs2084484862
NM_020708.5(SLC12A5):c.1499T>C (p.Leu500Pro)
NM_020708.5(SLC12A5):c.1523G>A (p.Arg508His) rs2084582477
NM_020708.5(SLC12A5):c.1600C>G (p.Pro534Ala)
NM_020708.5(SLC12A5):c.1613T>C (p.Leu538Pro) rs1555865050
NM_020708.5(SLC12A5):c.1621A>C (p.Thr541Pro)
NM_020708.5(SLC12A5):c.1658C>T (p.Ser553Phe) rs2145494762
NM_020708.5(SLC12A5):c.1667A>G (p.Glu556Gly)
NM_020708.5(SLC12A5):c.1676C>G (p.Pro559Arg)
NM_020708.5(SLC12A5):c.1688T>C (p.Met563Thr)
NM_020708.5(SLC12A5):c.1689-7G>A rs2084595386
NM_020708.5(SLC12A5):c.1702T>C (p.Cys568Arg) rs2145495282
NM_020708.5(SLC12A5):c.171G>A (p.Met57Ile)
NM_020708.5(SLC12A5):c.1739C>T (p.Thr580Met)
NM_020708.5(SLC12A5):c.1757A>G (p.Asn586Ser) rs749064755
NM_020708.5(SLC12A5):c.1768C>T (p.Arg590Cys) rs2084595756
NM_020708.5(SLC12A5):c.1775G>A (p.Arg592Gln) rs368661669
NM_020708.5(SLC12A5):c.1778A>T (p.Tyr593Phe)
NM_020708.5(SLC12A5):c.1788-6G>T
NM_020708.5(SLC12A5):c.17C>T (p.Thr6Met) rs538727547
NM_020708.5(SLC12A5):c.1811G>T (p.Ser604Ile)
NM_020708.5(SLC12A5):c.1828A>G (p.Met610Val)
NM_020708.5(SLC12A5):c.1834A>G (p.Ile612Val) rs1600600642
NM_020708.5(SLC12A5):c.1846T>C (p.Tyr616His)
NM_020708.5(SLC12A5):c.1850A>G (p.Tyr617Cys) rs1388235037
NM_020708.5(SLC12A5):c.1904G>A (p.Arg635His) rs746932137
NM_020708.5(SLC12A5):c.1907+5G>A rs2084607114
NM_020708.5(SLC12A5):c.1921T>C (p.Trp641Arg) rs2084611541
NM_020708.5(SLC12A5):c.1936C>G (p.Arg646Gly) rs771263913
NM_020708.5(SLC12A5):c.1960C>A (p.Arg654Ser) rs200020521
NM_020708.5(SLC12A5):c.1960C>T (p.Arg654Cys) rs200020521
NM_020708.5(SLC12A5):c.197C>T (p.Ala66Val) rs2145482188
NM_020708.5(SLC12A5):c.1985_1987dup (p.Glu662dup) rs2145497390
NM_020708.5(SLC12A5):c.2029C>A (p.Leu677Met) rs756040501
NM_020708.5(SLC12A5):c.2059G>T (p.Val687Leu) rs1175869873
NM_020708.5(SLC12A5):c.2074C>T (p.Leu692Phe) rs745527673
NM_020708.5(SLC12A5):c.2087C>T (p.Ser696Phe) rs2145499586
NM_020708.5(SLC12A5):c.2092C>A (p.Leu698Met) rs1325111537
NM_020708.5(SLC12A5):c.2105A>G (p.Lys702Arg) rs1555866427
NM_020708.5(SLC12A5):c.2119G>C (p.Val707Leu) rs1199339536
NM_020708.5(SLC12A5):c.2131C>T (p.Leu711Phe)
NM_020708.5(SLC12A5):c.2155C>A (p.His719Asn) rs2084631866
NM_020708.5(SLC12A5):c.2181+3G>A
NM_020708.5(SLC12A5):c.2181+5_2181+6delinsAA rs2145499747
NM_020708.5(SLC12A5):c.2185A>T (p.Ile729Phe) rs1479711008
NM_020708.5(SLC12A5):c.21C>A (p.Asp7Glu) rs1411688611
NM_020708.5(SLC12A5):c.2212G>A (p.Val738Met)
NM_020708.5(SLC12A5):c.2248T>A (p.Leu750Met)
NM_020708.5(SLC12A5):c.2297T>G (p.Leu766Arg)
NM_020708.5(SLC12A5):c.2339G>A (p.Arg780His)
NM_020708.5(SLC12A5):c.2350G>T (p.Asp784Tyr) rs2084649437
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met) rs901985864
NM_020708.5(SLC12A5):c.2375T>C (p.Ile792Thr) rs769820337
NM_020708.5(SLC12A5):c.2402G>A (p.Gly801Asp) rs1555867242
NM_020708.5(SLC12A5):c.2407T>G (p.Leu803Val)
NM_020708.5(SLC12A5):c.242C>T (p.Ala81Val) rs76320421
NM_020708.5(SLC12A5):c.2443C>T (p.Pro815Ser) rs2084659527
NM_020708.5(SLC12A5):c.2448G>T (p.Gly816=)
NM_020708.5(SLC12A5):c.2452C>A (p.Pro818Thr)
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020708.5(SLC12A5):c.2482G>A (p.Val828Ile)
NM_020708.5(SLC12A5):c.2511G>T (p.Met837Ile) rs1251560492
NM_020708.5(SLC12A5):c.2537G>A (p.Arg846Gln)
NM_020708.5(SLC12A5):c.2547G>A (p.Lys849=) rs1271576929
NM_020708.5(SLC12A5):c.256G>A (p.Gly86Ser)
NM_020708.5(SLC12A5):c.25G>A (p.Glu9Lys)
NM_020708.5(SLC12A5):c.2639A>G (p.Tyr880Cys) rs1270290272
NM_020708.5(SLC12A5):c.2657C>T (p.Ala886Val)
NM_020708.5(SLC12A5):c.2665G>A (p.Glu889Lys) rs565709821
NM_020708.5(SLC12A5):c.2672T>C (p.Val891Ala)
NM_020708.5(SLC12A5):c.2682T>A (p.His894Gln) rs2084676640
NM_020708.5(SLC12A5):c.2685G>C (p.Glu895Asp) rs1568868408
NM_020708.5(SLC12A5):c.2708A>T (p.Tyr903Phe) rs2145505900
NM_020708.5(SLC12A5):c.2750A>G (p.Lys917Arg) rs2084677325
NM_020708.5(SLC12A5):c.2754G>C (p.Gln918His) rs1417761332
NM_020708.5(SLC12A5):c.275T>C (p.Val92Ala)
NM_020708.5(SLC12A5):c.2767A>G (p.Lys923Glu) rs2084677438
NM_020708.5(SLC12A5):c.2777G>A (p.Arg926Gln)
NM_020708.5(SLC12A5):c.2787+6G>A rs2084677694
NM_020708.5(SLC12A5):c.2806G>A (p.Glu936Lys) rs2084689806
NM_020708.5(SLC12A5):c.2807A>T (p.Glu936Val) rs2145507497
NM_020708.5(SLC12A5):c.281C>A (p.Ala94Asp) rs2084493069
NM_020708.5(SLC12A5):c.2831A>C (p.Lys944Thr)
NM_020708.5(SLC12A5):c.2840C>A (p.Ala947Asp) rs199934904
NM_020708.5(SLC12A5):c.2862C>A (p.Asn954Lys) rs754601939
NM_020708.5(SLC12A5):c.2863G>A (p.Val955Ile)
NM_020708.5(SLC12A5):c.286C>A (p.Arg96Ser) rs145700012
NM_020708.5(SLC12A5):c.2872G>A (p.Glu958Lys)
NM_020708.5(SLC12A5):c.287G>T (p.Arg96Leu) rs756873079
NM_020708.5(SLC12A5):c.2888G>A (p.Ser963Asn)
NM_020708.5(SLC12A5):c.2890G>A (p.Glu964Lys)
NM_020708.5(SLC12A5):c.289A>T (p.Met97Leu)
NM_020708.5(SLC12A5):c.2910G>A (p.Glu970=)
NM_020708.5(SLC12A5):c.2911-3C>T rs2084693738
NM_020708.5(SLC12A5):c.2925C>A (p.His975Gln) rs778476586
NM_020708.5(SLC12A5):c.2926G>A (p.Asp976Asn)
NM_020708.5(SLC12A5):c.2938C>A (p.Pro980Thr) rs2145507934
NM_020708.5(SLC12A5):c.2953A>G (p.Ser985Gly) rs2145507962
NM_020708.5(SLC12A5):c.2963C>T (p.Ser988Phe) rs1600607044
NM_020708.5(SLC12A5):c.2989G>A (p.Gly997Arg) rs2084695025
NM_020708.5(SLC12A5):c.298T>A (p.Phe100Ile) rs1396711146
NM_020708.5(SLC12A5):c.3001C>T (p.Pro1001Ser) rs2084695249
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu) rs749426883
NM_020708.5(SLC12A5):c.3010G>A (p.Val1004Met) rs2145508098
NM_020708.5(SLC12A5):c.3028A>G (p.Lys1010Glu) rs2084695663
NM_020708.5(SLC12A5):c.3031G>A (p.Asp1011Asn)
NM_020708.5(SLC12A5):c.3033C>G (p.Asp1011Glu) rs2084695742
NM_020708.5(SLC12A5):c.3040G>A (p.Val1014Met) rs2145508136
NM_020708.5(SLC12A5):c.304G>A (p.Gly102Ser) rs2145482789
NM_020708.5(SLC12A5):c.3074C>T (p.Ser1025Phe)
NM_020708.5(SLC12A5):c.3080A>G (p.Glu1027Gly)
NM_020708.5(SLC12A5):c.3091G>C (p.Asp1031His) rs2145508232
NM_020708.5(SLC12A5):c.3096C>A (p.Phe1032Leu)
NM_020708.5(SLC12A5):c.3101G>A (p.Ser1034Asn) rs750612388
NM_020708.5(SLC12A5):c.3105G>T (p.Met1035Ile) rs375422132
NM_020708.5(SLC12A5):c.3110+14G>A
NM_020708.5(SLC12A5):c.3110+5G>A rs748005684
NM_020708.5(SLC12A5):c.3110C>T (p.Pro1037Leu) rs1304640833
NM_020708.5(SLC12A5):c.3173_3175del (p.Glu1058del) rs2084704275
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu) rs2084493674
NM_020708.5(SLC12A5):c.3193C>T (p.Arg1065Trp) rs774675766
NM_020708.5(SLC12A5):c.3199G>A (p.Ala1067Thr) rs1600607907
NM_020708.5(SLC12A5):c.3200C>G (p.Ala1067Gly) rs2084704738
NM_020708.5(SLC12A5):c.3218A>G (p.Asn1073Ser) rs1402047500
NM_020708.5(SLC12A5):c.3222G>A (p.Met1074Ile) rs2084704882
NM_020708.5(SLC12A5):c.3242G>A (p.Arg1081His) rs376095009
NM_020708.5(SLC12A5):c.3250G>A (p.Asp1084Asn) rs2084705283
NM_020708.5(SLC12A5):c.3260-3C>G
NM_020708.5(SLC12A5):c.3267G>T (p.Glu1089Asp) rs374697509
NM_020708.5(SLC12A5):c.326A>G (p.Gln109Arg) rs2145482810
NM_020708.5(SLC12A5):c.3304A>T (p.Met1102Leu) rs2084707984
NM_020708.5(SLC12A5):c.355C>T (p.Arg119Trp) rs3848724
NM_020708.5(SLC12A5):c.377T>C (p.Ile126Thr) rs758760799
NM_020708.5(SLC12A5):c.403A>G (p.Met135Val) rs2145482911
NM_020708.5(SLC12A5):c.411C>A (p.Phe137Leu) rs2145482914
NM_020708.5(SLC12A5):c.413T>G (p.Ile138Ser) rs2145482918
NM_020708.5(SLC12A5):c.418T>C (p.Cys140Arg) rs2145482936
NM_020708.5(SLC12A5):c.427-3C>T
NM_020708.5(SLC12A5):c.427-7C>G rs2145483872
NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met) rs764963565
NM_020708.5(SLC12A5):c.437C>T (p.Thr146Met) rs2084502132
NM_020708.5(SLC12A5):c.457A>T (p.Ile153Phe)
NM_020708.5(SLC12A5):c.464C>T (p.Thr155Met) rs2084502373
NM_020708.5(SLC12A5):c.470G>A (p.Gly157Asp) rs2084502438
NM_020708.5(SLC12A5):c.50C>G (p.Pro17Arg)
NM_020708.5(SLC12A5):c.529G>C (p.Gly177Arg)
NM_020708.5(SLC12A5):c.53G>A (p.Gly18Asp)
NM_020708.5(SLC12A5):c.553T>C (p.Tyr185His)
NM_020708.5(SLC12A5):c.563C>A (p.Thr188Asn) rs2145484631
NM_020708.5(SLC12A5):c.575G>C (p.Gly192Ala)
NM_020708.5(SLC12A5):c.587T>A (p.Ile196Asn) rs2145484652
NM_020708.5(SLC12A5):c.601G>A (p.Glu201Lys) rs868598822
NM_020708.5(SLC12A5):c.613G>A (p.Ala205Thr) rs2084534894
NM_020708.5(SLC12A5):c.631A>G (p.Met211Val) rs2145487863
NM_020708.5(SLC12A5):c.64C>A (p.Pro22Thr) rs2084483871
NM_020708.5(SLC12A5):c.655G>A (p.Ala219Thr)
NM_020708.5(SLC12A5):c.684C>A (p.Asn228Lys) rs2084535559
NM_020708.5(SLC12A5):c.688A>G (p.Met230Val) rs2145487913
NM_020708.5(SLC12A5):c.689T>G (p.Met230Arg) rs2084535623
NM_020708.5(SLC12A5):c.694G>A (p.Val232Ile) rs1555863136
NM_020708.5(SLC12A5):c.723G>A (p.Met241Ile) rs766598411
NM_020708.5(SLC12A5):c.749A>C (p.Lys250Thr)
NM_020708.5(SLC12A5):c.750G>A (p.Lys250=)
NM_020708.5(SLC12A5):c.750G>T (p.Lys250Asn) rs777601251
NM_020708.5(SLC12A5):c.772G>T (p.Val258Phe)
NM_020708.5(SLC12A5):c.837C>T (p.Phe279=)
NM_020708.5(SLC12A5):c.848A>G (p.Asn283Ser)
NM_020708.5(SLC12A5):c.855-66G>A
NM_020708.5(SLC12A5):c.866T>G (p.Leu289Arg) rs1600595445
NM_020708.5(SLC12A5):c.86T>C (p.Ile29Thr) rs2084484090
NM_020708.5(SLC12A5):c.893G>T (p.Gly298Val) rs1317503439
NM_020708.5(SLC12A5):c.900T>G (p.Asp300Glu) rs765877175
NM_020708.5(SLC12A5):c.937G>T (p.Val313Leu) rs138569099
NM_020708.5(SLC12A5):c.941C>T (p.Thr314Ile)
NM_020708.5(SLC12A5):c.944C>T (p.Thr315Ile) rs2145489127
NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu) rs1600595577
NM_020708.5(SLC12A5):c.995A>G (p.Asp332Gly)
NM_021072.4(HCN1):c.1012-3C>T rs1739694635
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) rs1739691061
NM_021072.4(HCN1):c.1377+19834C>T rs761223261
NM_021072.4(HCN1):c.159C>A (p.His53Gln)
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) rs1561081327
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) rs776850213
NM_021072.4(HCN1):c.195_200del (p.Gly73_Gly74del)
NM_021072.4(HCN1):c.2019G>A (p.Leu673=) rs767602409
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly) rs1561079301
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) rs2111839334
NM_021072.4(HCN1):c.2230C>T (p.Pro744Ser)
NM_021072.4(HCN1):c.2654G>T (p.Arg885Leu)
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) rs748665278
NM_021072.4(HCN1):c.57C>A (p.Ser19Arg)
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) rs1469192494
NM_021072.4(HCN1):c.844G>A (p.Glu282Lys)
NM_021072.4(HCN1):c.849+66420G>T rs986310668
NM_021072.4(HCN1):c.928C>T (p.His310Tyr) rs2111627182
NM_021072.4(HCN1):c.986G>T (p.Cys329Phe)
NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)
NM_024818.6(UBA5):c.32G>A (p.Arg11Gln)
NM_024818.6(UBA5):c.676T>C (p.Cys226Arg)
NM_024818.6(UBA5):c.692C>T (p.Pro231Leu)
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_177550.5(SLC13A5):c.-5G>A rs201070767
NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr) rs1183731879
NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr)
NM_177550.5(SLC13A5):c.102G>A (p.Lys34=) rs2151505650
NM_177550.5(SLC13A5):c.103-10G>A rs2151498872
NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys)
NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met) rs2151485566
NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro)
NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile) rs760586654
NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro)
NM_177550.5(SLC13A5):c.10G>C (p.Ala4Pro) rs2151505878
NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser) rs2151498848
NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu)
NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His) rs747458897
NM_177550.5(SLC13A5):c.1139G>T (p.Arg380Leu) rs747458897
NM_177550.5(SLC13A5):c.1150G>A (p.Glu384Lys) rs1461948332
NM_177550.5(SLC13A5):c.1156+3A>G
NM_177550.5(SLC13A5):c.1156+5G>A
NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)
NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu) rs756710649
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu) rs1973458109
NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu)
NM_177550.5(SLC13A5):c.1198A>C (p.Lys400Gln) rs1597659809
NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met) rs1973457144
NM_177550.5(SLC13A5):c.11C>T (p.Ala4Val) rs1356594210
NM_177550.5(SLC13A5):c.1219C>T (p.Pro407Ser) rs974605915
NM_177550.5(SLC13A5):c.1231G>A (p.Val411Met) rs1207618696
NM_177550.5(SLC13A5):c.1240C>G (p.Leu414Val) rs1206208725
NM_177550.5(SLC13A5):c.1241T>C (p.Leu414Pro)
NM_177550.5(SLC13A5):c.124A>C (p.Ile42Leu) rs2151498818
NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile)
NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val)
NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro) rs150738356
NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys) rs754804579
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) rs201036096
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr) rs1064796654
NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1300G>C (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1308_1322del (p.Gln436_Leu440del) rs1197782289
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) rs373587508
NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)
NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr) rs2150964801
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile) rs1311732049
NM_177550.5(SLC13A5):c.1362G>C (p.Leu454Phe) rs778880558
NM_177550.5(SLC13A5):c.1363C>T (p.Leu455Phe) rs1386156410
NM_177550.5(SLC13A5):c.137C>T (p.Ala46Val) rs762903735
NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn)
NM_177550.5(SLC13A5):c.1405A>G (p.Thr469Ala) rs1475919318
NM_177550.5(SLC13A5):c.1411T>G (p.Leu471Val) rs1209800037
NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu)
NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val)
NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile)
NM_177550.5(SLC13A5):c.1438-3C>A
NM_177550.5(SLC13A5):c.1438-4G>T
NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro) rs2150961873
NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe) rs1236635295
NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro) rs148049520
NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser)
NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met) rs754295995
NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu)
NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del) rs1255190713
NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile)
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser)
NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe) rs779246920
NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile) rs1221511903
NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu)
NM_177550.5(SLC13A5):c.1575+4A>T
NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg)
NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys) rs1973250595
NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val) rs1973250507
NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)
NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg)
NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg) rs1597651569
NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser)
NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)
NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met) rs1973247421
NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer) rs1311685227
NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser) rs1223073326
NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln) rs2150960732
NM_177550.5(SLC13A5):c.175_192del (p.Thr59_Val64del) rs1973889353
NM_177550.5(SLC13A5):c.178T>C (p.Ser60Pro) rs1973889704
NM_177550.5(SLC13A5):c.190G>A (p.Val64Ile) rs376024540
NM_177550.5(SLC13A5):c.20A>G (p.Tyr7Cys) rs568118247
NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr)
NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly)
NM_177550.5(SLC13A5):c.239T>C (p.Val80Ala) rs930818882
NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys) rs747526311
NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg) rs1973877779
NM_177550.5(SLC13A5):c.253G>A (p.Asp85Asn) rs2151498276
NM_177550.5(SLC13A5):c.25T>G (p.Ser9Ala) rs2151505845
NM_177550.5(SLC13A5):c.262A>C (p.Met88Leu) rs919457838
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) rs1555543400
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3]) rs1555543390
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys) rs1435998726
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) rs750520927
NM_177550.5(SLC13A5):c.313C>A (p.Leu105Met) rs765334582
NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val) rs1973874074
NM_177550.5(SLC13A5):c.327C>G (p.Ile109Met) rs761010502
NM_177550.5(SLC13A5):c.334C>T (p.Arg112Cys) rs372771266
NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp)
NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu) rs1973871631
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) rs754937425
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu) rs771925824
NM_177550.5(SLC13A5):c.393C>T (p.Val131=)
NM_177550.5(SLC13A5):c.3G>A (p.Met1Ile) rs1597686195
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu) rs1974091514
NM_177550.5(SLC13A5):c.429_437del (p.Thr144_Ala146del) rs769931974
NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys) rs1202091819
NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro)
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met) rs1223974189
NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val)
NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)
NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu)
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) rs748215544
NM_177550.5(SLC13A5):c.487A>G (p.Ser163Gly) rs1973790070
NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln) rs373010067
NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)
NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly) rs1412352155
NM_177550.5(SLC13A5):c.517G>A (p.Val173Met) rs2151494980
NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe) rs941552722
NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu) rs1160099071
NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys) rs1973787933
NM_177550.5(SLC13A5):c.547+6C>A
NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser) rs1973761446
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp) rs142320179
NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys)
NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala) rs1567628652
NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr) rs1973759255
NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro)
NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr) rs1271011718
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp) rs2151493922
NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr) rs201674669
NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys) rs754553205
NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys)
NM_177550.5(SLC13A5):c.716+5G>A rs1057518298
NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly) rs1973754222
NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu)
NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly) rs778721131
NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu) rs2151492071
NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys) rs763190407
NM_177550.5(SLC13A5):c.781A>G (p.Met261Val)
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro) rs1973699059
NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys)
NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile) rs1973697429
NM_177550.5(SLC13A5):c.839+4A>C rs1973697168
NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn)
NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys)
NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys) rs749077002
NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr) rs1057524830
NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro)
NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp)
NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly) rs769595777
NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp) rs769595777
NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu) rs138841868
NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe)
NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp)
NM_177550.5(SLC13A5):c.9G>A (p.Ser3=) rs1318559097

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