Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63414917_63415288delinsTCA2739277255KCNQ2c.1248-162_1457delinsA
c.1302-162_1511delinsA
c.699-162_908delinsA
c.1248-198_1421delinsA
c.906-198_1079delinsA
c.1218-162_1427delinsA
c.1218-198_1391delinsA
c.362-162_571delinsA
c.1272-162_1481delinsA
c.1176-162_1385delinsA
c.783-162_992delinsA
c.1179-162_1388delinsA
c.210-162_419delinsA
 ClinVar
20g.63414932T>ACA409646196KCNQ2c.1442A>T (p.Lys481Met)
c.1496A>T (p.Lys499Met)
c.893A>T (p.Lys298Met)
c.1406A>T (p.Lys469Met)
c.1064A>T (p.Lys355Met)
c.1412A>T (p.Lys471Met)
c.1376A>T (p.Lys459Met)
c.556A>T
c.104A>T (p.Lys35Met)
c.1466A>T (p.Lys489Met)
c.1370A>T (p.Lys457Met)
c.977A>T (p.Lys326Met)
c.1373A>T (p.Lys458Met)
c.404A>T (p.Lys135Met)
20g.63414932T>CCA317430923KCNQ2c.1442A>G (p.Lys481Arg)
c.1496A>G (p.Lys499Arg)
c.893A>G (p.Lys298Arg)
c.1406A>G (p.Lys469Arg)
c.1064A>G (p.Lys355Arg)
c.1412A>G (p.Lys471Arg)
c.1376A>G (p.Lys459Arg)
c.556A>G
c.104A>G (p.Lys35Arg)
c.1466A>G (p.Lys489Arg)
c.1370A>G (p.Lys457Arg)
c.977A>G (p.Lys326Arg)
c.1373A>G (p.Lys458Arg)
c.404A>G (p.Lys135Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.63414932T>GCA409646197KCNQ2c.1442A>C (p.Lys481Thr)
c.1496A>C (p.Lys499Thr)
c.893A>C (p.Lys298Thr)
c.1406A>C (p.Lys469Thr)
c.1064A>C (p.Lys355Thr)
c.1412A>C (p.Lys471Thr)
c.1376A>C (p.Lys459Thr)
c.556A>C
c.104A>C (p.Lys35Thr)
c.1466A>C (p.Lys489Thr)
c.1370A>C (p.Lys457Thr)
c.977A>C (p.Lys326Thr)
c.1373A>C (p.Lys458Thr)
c.404A>C (p.Lys135Thr)
20g.63414932T=CA2374778774KCNQ2c.1442A= (p.Lys481=)
c.1496A= (p.Lys499=)
c.893A= (p.Lys298=)
c.1406A= (p.Lys469=)
c.1064A= (p.Lys355=)
c.1412A= (p.Lys471=)
c.1376A= (p.Lys459=)
c.556A=
c.104A= (p.Lys35=)
c.1466A= (p.Lys489=)
c.1370A= (p.Lys457=)
c.977A= (p.Lys326=)
c.1373A= (p.Lys458=)
c.404A= (p.Lys135=)
20g.63414933T>ACA409646198KCNQ2c.1441A>T (p.Lys481Ter)
c.1495A>T (p.Lys499Ter)
c.892A>T (p.Lys298Ter)
c.1405A>T (p.Lys469Ter)
c.1063A>T (p.Lys355Ter)
c.1411A>T (p.Lys471Ter)
c.1375A>T (p.Lys459Ter)
c.555A>T
c.103A>T (p.Lys35Ter)
c.1465A>T (p.Lys489Ter)
c.1369A>T (p.Lys457Ter)
c.976A>T (p.Lys326Ter)
c.1372A>T (p.Lys458Ter)
c.403A>T (p.Lys135Ter)
20g.63414933T>CCA409646200KCNQ2c.1441A>G (p.Lys481Glu)
c.1495A>G (p.Lys499Glu)
c.892A>G (p.Lys298Glu)
c.1405A>G (p.Lys469Glu)
c.1063A>G (p.Lys355Glu)
c.1411A>G (p.Lys471Glu)
c.1375A>G (p.Lys459Glu)
c.555A>G
c.103A>G (p.Lys35Glu)
c.1465A>G (p.Lys489Glu)
c.1369A>G (p.Lys457Glu)
c.976A>G (p.Lys326Glu)
c.1372A>G (p.Lys458Glu)
c.403A>G (p.Lys135Glu)
20g.63414933T>GCA409646202KCNQ2c.1441A>C (p.Lys481Gln)
c.1495A>C (p.Lys499Gln)
c.892A>C (p.Lys298Gln)
c.1405A>C (p.Lys469Gln)
c.1063A>C (p.Lys355Gln)
c.1411A>C (p.Lys471Gln)
c.1375A>C (p.Lys459Gln)
c.555A>C
c.103A>C (p.Lys35Gln)
c.1465A>C (p.Lys489Gln)
c.1369A>C (p.Lys457Gln)
c.976A>C (p.Lys326Gln)
c.1372A>C (p.Lys458Gln)
c.403A>C (p.Lys135Gln)
20g.63414934G>ACA511339657KCNQ2c.1440C>T (p.Ile480=)
c.1494C>T (p.Ile498=)
c.891C>T (p.Ile297=)
c.1404C>T (p.Ile468=)
c.1062C>T (p.Ile354=)
c.1410C>T (p.Ile470=)
c.1374C>T (p.Ile458=)
c.554C>T
c.102C>T (p.Ile34=)
c.1464C>T (p.Ile488=)
c.1368C>T (p.Ile456=)
c.975C>T (p.Ile325=)
c.1371C>T (p.Ile457=)
c.402C>T (p.Ile134=)
20g.63414934G>CCA409646204KCNQ2c.1440C>G (p.Ile480Met)
c.1494C>G (p.Ile498Met)
c.891C>G (p.Ile297Met)
c.1404C>G (p.Ile468Met)
c.1062C>G (p.Ile354Met)
c.1410C>G (p.Ile470Met)
c.1374C>G (p.Ile458Met)
c.554C>G
c.102C>G (p.Ile34Met)
c.1464C>G (p.Ile488Met)
c.1368C>G (p.Ile456Met)
c.975C>G (p.Ile325Met)
c.1371C>G (p.Ile457Met)
c.402C>G (p.Ile134Met)
 gnomAD v4
20g.63414934G>TCA511339659KCNQ2c.1440C>A (p.Ile480=)
c.1494C>A (p.Ile498=)
c.891C>A (p.Ile297=)
c.1404C>A (p.Ile468=)
c.1062C>A (p.Ile354=)
c.1410C>A (p.Ile470=)
c.1374C>A (p.Ile458=)
c.554C>A
c.102C>A (p.Ile34=)
c.1464C>A (p.Ile488=)
c.1368C>A (p.Ile456=)
c.975C>A (p.Ile325=)
c.1371C>A (p.Ile457=)
c.402C>A (p.Ile134=)
 ClinVar dbSNP gnomAD v4
20g.63414935A>CCA409646207KCNQ2c.1439T>G (p.Ile480Ser)
c.1493T>G (p.Ile498Ser)
c.890T>G (p.Ile297Ser)
c.1403T>G (p.Ile468Ser)
c.1061T>G (p.Ile354Ser)
c.1409T>G (p.Ile470Ser)
c.1373T>G (p.Ile458Ser)
c.553T>G
c.101T>G (p.Ile34Ser)
c.1463T>G (p.Ile488Ser)
c.1367T>G (p.Ile456Ser)
c.974T>G (p.Ile325Ser)
c.1370T>G (p.Ile457Ser)
c.401T>G (p.Ile134Ser)
20g.63414935A>GCA409646213KCNQ2c.1439T>C (p.Ile480Thr)
c.1493T>C (p.Ile498Thr)
c.890T>C (p.Ile297Thr)
c.1403T>C (p.Ile468Thr)
c.1061T>C (p.Ile354Thr)
c.1409T>C (p.Ile470Thr)
c.1373T>C (p.Ile458Thr)
c.553T>C
c.101T>C (p.Ile34Thr)
c.1463T>C (p.Ile488Thr)
c.1367T>C (p.Ile456Thr)
c.974T>C (p.Ile325Thr)
c.1370T>C (p.Ile457Thr)
c.401T>C (p.Ile134Thr)
20g.63414935A>TCA409646211KCNQ2c.1439T>A (p.Ile480Asn)
c.1493T>A (p.Ile498Asn)
c.890T>A (p.Ile297Asn)
c.1403T>A (p.Ile468Asn)
c.1061T>A (p.Ile354Asn)
c.1409T>A (p.Ile470Asn)
c.1373T>A (p.Ile458Asn)
c.553T>A
c.101T>A (p.Ile34Asn)
c.1463T>A (p.Ile488Asn)
c.1367T>A (p.Ile456Asn)
c.974T>A (p.Ile325Asn)
c.1370T>A (p.Ile457Asn)
c.401T>A (p.Ile134Asn)
20g.63414936T>ACA409646216KCNQ2c.1438A>T (p.Ile480Phe)
c.1492A>T (p.Ile498Phe)
c.889A>T (p.Ile297Phe)
c.1402A>T (p.Ile468Phe)
c.1060A>T (p.Ile354Phe)
c.1408A>T (p.Ile470Phe)
c.1372A>T (p.Ile458Phe)
c.552A>T
c.100A>T (p.Ile34Phe)
c.1462A>T (p.Ile488Phe)
c.1366A>T (p.Ile456Phe)
c.973A>T (p.Ile325Phe)
c.1369A>T (p.Ile457Phe)
c.400A>T (p.Ile134Phe)
20g.63414936T>CCA409646217KCNQ2c.1438A>G (p.Ile480Val)
c.1492A>G (p.Ile498Val)
c.889A>G (p.Ile297Val)
c.1402A>G (p.Ile468Val)
c.1060A>G (p.Ile354Val)
c.1408A>G (p.Ile470Val)
c.1372A>G (p.Ile458Val)
c.552A>G
c.100A>G (p.Ile34Val)
c.1462A>G (p.Ile488Val)
c.1366A>G (p.Ile456Val)
c.973A>G (p.Ile325Val)
c.1369A>G (p.Ile457Val)
c.400A>G (p.Ile134Val)
 ClinVar dbSNP
20g.63414936T>GCA409646218KCNQ2c.1438A>C (p.Ile480Leu)
c.1492A>C (p.Ile498Leu)
c.889A>C (p.Ile297Leu)
c.1402A>C (p.Ile468Leu)
c.1060A>C (p.Ile354Leu)
c.1408A>C (p.Ile470Leu)
c.1372A>C (p.Ile458Leu)
c.552A>C
c.100A>C (p.Ile34Leu)
c.1462A>C (p.Ile488Leu)
c.1366A>C (p.Ile456Leu)
c.973A>C (p.Ile325Leu)
c.1369A>C (p.Ile457Leu)
c.400A>C (p.Ile134Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.63414936T=CA2374778775KCNQ2c.1438A= (p.Ile480=)
c.1492A= (p.Ile498=)
c.889A= (p.Ile297=)
c.1402A= (p.Ile468=)
c.1060A= (p.Ile354=)
c.1408A= (p.Ile470=)
c.1372A= (p.Ile458=)
c.552A=
c.100A= (p.Ile34=)
c.1462A= (p.Ile488=)
c.1366A= (p.Ile456=)
c.973A= (p.Ile325=)
c.1369A= (p.Ile457=)
c.400A= (p.Ile134=)
20g.63414937G>ACA511339660KCNQ2c.1437C>T (p.Arg479=)
c.1491C>T (p.Arg497=)
c.888C>T (p.Arg296=)
c.1401C>T (p.Arg467=)
c.1059C>T (p.Arg353=)
c.1407C>T (p.Arg469=)
c.1371C>T (p.Arg457=)
c.551C>T
c.99C>T (p.Arg33=)
c.1461C>T (p.Arg487=)
c.1365C>T (p.Arg455=)
c.972C>T (p.Arg324=)
c.1368C>T (p.Arg456=)
c.399C>T (p.Arg133=)
 dbSNP gnomAD v2 gnomAD v4
20g.63414937G>CCA511339661KCNQ2c.1437C>G (p.Arg479=)
c.1491C>G (p.Arg497=)
c.888C>G (p.Arg296=)
c.1401C>G (p.Arg467=)
c.1059C>G (p.Arg353=)
c.1407C>G (p.Arg469=)
c.1371C>G (p.Arg457=)
c.551C>G
c.99C>G (p.Arg33=)
c.1461C>G (p.Arg487=)
c.1365C>G (p.Arg455=)
c.972C>G (p.Arg324=)
c.1368C>G (p.Arg456=)
c.399C>G (p.Arg133=)
20g.63414937G=CA2374778776KCNQ2c.1437C= (p.Arg479=)
c.1491C= (p.Arg497=)
c.888C= (p.Arg296=)
c.1401C= (p.Arg467=)
c.1059C= (p.Arg353=)
c.1407C= (p.Arg469=)
c.1371C= (p.Arg457=)
c.551C=
c.99C= (p.Arg33=)
c.1461C= (p.Arg487=)
c.1365C= (p.Arg455=)
c.972C= (p.Arg324=)
c.1368C= (p.Arg456=)
c.399C= (p.Arg133=)
20g.63414937G>TCA511339662KCNQ2c.1437C>A (p.Arg479=)
c.1491C>A (p.Arg497=)
c.888C>A (p.Arg296=)
c.1401C>A (p.Arg467=)
c.1059C>A (p.Arg353=)
c.1407C>A (p.Arg469=)
c.1371C>A (p.Arg457=)
c.551C>A
c.99C>A (p.Arg33=)
c.1461C>A (p.Arg487=)
c.1365C>A (p.Arg455=)
c.972C>A (p.Arg324=)
c.1368C>A (p.Arg456=)
c.399C>A (p.Arg133=)
20g.63414938C>ACA409646219KCNQ2c.1436G>T (p.Arg479Leu)
c.1490G>T (p.Arg497Leu)
c.887G>T (p.Arg296Leu)
c.1400G>T (p.Arg467Leu)
c.1058G>T (p.Arg353Leu)
c.1406G>T (p.Arg469Leu)
c.1370G>T (p.Arg457Leu)
c.550G>T
c.98G>T (p.Arg33Leu)
c.1460G>T (p.Arg487Leu)
c.1364G>T (p.Arg455Leu)
c.971G>T (p.Arg324Leu)
c.1367G>T (p.Arg456Leu)
c.398G>T (p.Arg133Leu)
 ClinVar gnomAD v4
20g.63414938C=CA2374778777KCNQ2c.1436G= (p.Arg479=)
c.1490G= (p.Arg497=)
c.887G= (p.Arg296=)
c.1400G= (p.Arg467=)
c.1058G= (p.Arg353=)
c.1406G= (p.Arg469=)
c.1370G= (p.Arg457=)
c.550G=
c.98G= (p.Arg33=)
c.1460G= (p.Arg487=)
c.1364G= (p.Arg455=)
c.971G= (p.Arg324=)
c.1367G= (p.Arg456=)
c.398G= (p.Arg133=)
20g.63414938C>GCA409646222KCNQ2c.1436G>C (p.Arg479Pro)
c.1490G>C (p.Arg497Pro)
c.887G>C (p.Arg296Pro)
c.1400G>C (p.Arg467Pro)
c.1058G>C (p.Arg353Pro)
c.1406G>C (p.Arg469Pro)
c.1370G>C (p.Arg457Pro)
c.550G>C
c.98G>C (p.Arg33Pro)
c.1460G>C (p.Arg487Pro)
c.1364G>C (p.Arg455Pro)
c.971G>C (p.Arg324Pro)
c.1367G>C (p.Arg456Pro)
c.398G>C (p.Arg133Pro)
20g.63414938C>TCA9958448KCNQ2c.1436G>A (p.Arg479His)
c.1490G>A (p.Arg497His)
c.887G>A (p.Arg296His)
c.1400G>A (p.Arg467His)
c.1058G>A (p.Arg353His)
c.1406G>A (p.Arg469His)
c.1370G>A (p.Arg457His)
c.550G>A
c.98G>A (p.Arg33His)
c.1460G>A (p.Arg487His)
c.1364G>A (p.Arg455His)
c.971G>A (p.Arg324His)
c.1367G>A (p.Arg456His)
c.398G>A (p.Arg133His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414939G>ACA9958449KCNQ2c.1435C>T (p.Arg479Cys)
c.1489C>T (p.Arg497Cys)
c.886C>T (p.Arg296Cys)
c.1399C>T (p.Arg467Cys)
c.1057C>T (p.Arg353Cys)
c.1405C>T (p.Arg469Cys)
c.1369C>T (p.Arg457Cys)
c.549C>T
c.97C>T (p.Arg33Cys)
c.1459C>T (p.Arg487Cys)
c.1363C>T (p.Arg455Cys)
c.970C>T (p.Arg324Cys)
c.1366C>T (p.Arg456Cys)
c.397C>T (p.Arg133Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414939G>CCA409646227KCNQ2c.1435C>G (p.Arg479Gly)
c.1489C>G (p.Arg497Gly)
c.886C>G (p.Arg296Gly)
c.1399C>G (p.Arg467Gly)
c.1057C>G (p.Arg353Gly)
c.1405C>G (p.Arg469Gly)
c.1369C>G (p.Arg457Gly)
c.549C>G
c.97C>G (p.Arg33Gly)
c.1459C>G (p.Arg487Gly)
c.1363C>G (p.Arg455Gly)
c.970C>G (p.Arg324Gly)
c.1366C>G (p.Arg456Gly)
c.397C>G (p.Arg133Gly)
20g.63414939G=CA2374778778KCNQ2c.1435C= (p.Arg479=)
c.1489C= (p.Arg497=)
c.886C= (p.Arg296=)
c.1399C= (p.Arg467=)
c.1057C= (p.Arg353=)
c.1405C= (p.Arg469=)
c.1369C= (p.Arg457=)
c.549C=
c.97C= (p.Arg33=)
c.1459C= (p.Arg487=)
c.1363C= (p.Arg455=)
c.970C= (p.Arg324=)
c.1366C= (p.Arg456=)
c.397C= (p.Arg133=)
20g.63414939G>TCA409646229KCNQ2c.1435C>A (p.Arg479Ser)
c.1489C>A (p.Arg497Ser)
c.886C>A (p.Arg296Ser)
c.1399C>A (p.Arg467Ser)
c.1057C>A (p.Arg353Ser)
c.1405C>A (p.Arg469Ser)
c.1369C>A (p.Arg457Ser)
c.549C>A
c.97C>A (p.Arg33Ser)
c.1459C>A (p.Arg487Ser)
c.1363C>A (p.Arg455Ser)
c.970C>A (p.Arg324Ser)
c.1366C>A (p.Arg456Ser)
c.397C>A (p.Arg133Ser)
20g.63414940G>ACA511339665KCNQ2c.1434C>T (p.Phe478=)
c.1488C>T (p.Phe496=)
c.885C>T (p.Phe295=)
c.1398C>T (p.Phe466=)
c.1056C>T (p.Phe352=)
c.1404C>T (p.Phe468=)
c.1368C>T (p.Phe456=)
c.548C>T
c.96C>T (p.Phe32=)
c.1458C>T (p.Phe486=)
c.1362C>T (p.Phe454=)
c.969C>T (p.Phe323=)
c.1365C>T (p.Phe455=)
c.396C>T (p.Phe132=)
20g.63414940G>CCA409646232KCNQ2c.1434C>G (p.Phe478Leu)
c.1488C>G (p.Phe496Leu)
c.885C>G (p.Phe295Leu)
c.1398C>G (p.Phe466Leu)
c.1056C>G (p.Phe352Leu)
c.1404C>G (p.Phe468Leu)
c.1368C>G (p.Phe456Leu)
c.548C>G
c.96C>G (p.Phe32Leu)
c.1458C>G (p.Phe486Leu)
c.1362C>G (p.Phe454Leu)
c.969C>G (p.Phe323Leu)
c.1365C>G (p.Phe455Leu)
c.396C>G (p.Phe132Leu)
20g.63414940G>TCA409646239KCNQ2c.1434C>A (p.Phe478Leu)
c.1488C>A (p.Phe496Leu)
c.885C>A (p.Phe295Leu)
c.1398C>A (p.Phe466Leu)
c.1056C>A (p.Phe352Leu)
c.1404C>A (p.Phe468Leu)
c.1368C>A (p.Phe456Leu)
c.548C>A
c.96C>A (p.Phe32Leu)
c.1458C>A (p.Phe486Leu)
c.1362C>A (p.Phe454Leu)
c.969C>A (p.Phe323Leu)
c.1365C>A (p.Phe455Leu)
c.396C>A (p.Phe132Leu)
20g.63414941A>CCA409646241KCNQ2c.1433T>G (p.Phe478Cys)
c.1487T>G (p.Phe496Cys)
c.884T>G (p.Phe295Cys)
c.1397T>G (p.Phe466Cys)
c.1055T>G (p.Phe352Cys)
c.1403T>G (p.Phe468Cys)
c.1367T>G (p.Phe456Cys)
c.547T>G
c.95T>G (p.Phe32Cys)
c.1457T>G (p.Phe486Cys)
c.1361T>G (p.Phe454Cys)
c.968T>G (p.Phe323Cys)
c.1364T>G (p.Phe455Cys)
c.395T>G (p.Phe132Cys)
20g.63414941A>GCA409646247KCNQ2c.1433T>C (p.Phe478Ser)
c.1487T>C (p.Phe496Ser)
c.884T>C (p.Phe295Ser)
c.1397T>C (p.Phe466Ser)
c.1055T>C (p.Phe352Ser)
c.1403T>C (p.Phe468Ser)
c.1367T>C (p.Phe456Ser)
c.547T>C
c.95T>C (p.Phe32Ser)
c.1457T>C (p.Phe486Ser)
c.1361T>C (p.Phe454Ser)
c.968T>C (p.Phe323Ser)
c.1364T>C (p.Phe455Ser)
c.395T>C (p.Phe132Ser)
20g.63414941A>TCA409646243KCNQ2c.1433T>A (p.Phe478Tyr)
c.1487T>A (p.Phe496Tyr)
c.884T>A (p.Phe295Tyr)
c.1397T>A (p.Phe466Tyr)
c.1055T>A (p.Phe352Tyr)
c.1403T>A (p.Phe468Tyr)
c.1367T>A (p.Phe456Tyr)
c.547T>A
c.95T>A (p.Phe32Tyr)
c.1457T>A (p.Phe486Tyr)
c.1361T>A (p.Phe454Tyr)
c.968T>A (p.Phe323Tyr)
c.1364T>A (p.Phe455Tyr)
c.395T>A (p.Phe132Tyr)
20g.63414942A=CA2374778779KCNQ2c.1432T= (p.Phe478=)
c.1486T= (p.Phe496=)
c.883T= (p.Phe295=)
c.1396T= (p.Phe466=)
c.1054T= (p.Phe352=)
c.1402T= (p.Phe468=)
c.1366T= (p.Phe456=)
c.546T=
c.94T= (p.Phe32=)
c.1456T= (p.Phe486=)
c.1360T= (p.Phe454=)
c.967T= (p.Phe323=)
c.1363T= (p.Phe455=)
c.394T= (p.Phe132=)
20g.63414942A>CCA409646253KCNQ2c.1432T>G (p.Phe478Val)
c.1486T>G (p.Phe496Val)
c.883T>G (p.Phe295Val)
c.1396T>G (p.Phe466Val)
c.1054T>G (p.Phe352Val)
c.1402T>G (p.Phe468Val)
c.1366T>G (p.Phe456Val)
c.546T>G
c.94T>G (p.Phe32Val)
c.1456T>G (p.Phe486Val)
c.1360T>G (p.Phe454Val)
c.967T>G (p.Phe323Val)
c.1363T>G (p.Phe455Val)
c.394T>G (p.Phe132Val)
20g.63414942A>GCA409646256KCNQ2c.1432T>C (p.Phe478Leu)
c.1486T>C (p.Phe496Leu)
c.883T>C (p.Phe295Leu)
c.1396T>C (p.Phe466Leu)
c.1054T>C (p.Phe352Leu)
c.1402T>C (p.Phe468Leu)
c.1366T>C (p.Phe456Leu)
c.546T>C
c.94T>C (p.Phe32Leu)
c.1456T>C (p.Phe486Leu)
c.1360T>C (p.Phe454Leu)
c.967T>C (p.Phe323Leu)
c.1363T>C (p.Phe455Leu)
c.394T>C (p.Phe132Leu)
20g.63414942A>TCA9958450KCNQ2c.1432T>A (p.Phe478Ile)
c.1486T>A (p.Phe496Ile)
c.883T>A (p.Phe295Ile)
c.1396T>A (p.Phe466Ile)
c.1054T>A (p.Phe352Ile)
c.1402T>A (p.Phe468Ile)
c.1366T>A (p.Phe456Ile)
c.546T>A
c.94T>A (p.Phe32Ile)
c.1456T>A (p.Phe486Ile)
c.1360T>A (p.Phe454Ile)
c.967T>A (p.Phe323Ile)
c.1363T>A (p.Phe455Ile)
c.394T>A (p.Phe132Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414943A>CCA511339667KCNQ2c.1431T>G (p.Ala477=)
c.1485T>G (p.Ala495=)
c.882T>G (p.Ala294=)
c.1395T>G (p.Ala465=)
c.1053T>G (p.Ala351=)
c.1401T>G (p.Ala467=)
c.1365T>G (p.Ala455=)
c.545T>G
c.93T>G (p.Ala31=)
c.1455T>G (p.Ala485=)
c.1359T>G (p.Ala453=)
c.966T>G (p.Ala322=)
c.1362T>G (p.Ala454=)
c.393T>G (p.Ala131=)
20g.63414943A>GCA511339668KCNQ2c.1431T>C (p.Ala477=)
c.1485T>C (p.Ala495=)
c.882T>C (p.Ala294=)
c.1395T>C (p.Ala465=)
c.1053T>C (p.Ala351=)
c.1401T>C (p.Ala467=)
c.1365T>C (p.Ala455=)
c.545T>C
c.93T>C (p.Ala31=)
c.1455T>C (p.Ala485=)
c.1359T>C (p.Ala453=)
c.966T>C (p.Ala322=)
c.1362T>C (p.Ala454=)
c.393T>C (p.Ala131=)
 gnomAD v4
20g.63414943A>TCA511339669KCNQ2c.1431T>A (p.Ala477=)
c.1485T>A (p.Ala495=)
c.882T>A (p.Ala294=)
c.1395T>A (p.Ala465=)
c.1053T>A (p.Ala351=)
c.1401T>A (p.Ala467=)
c.1365T>A (p.Ala455=)
c.545T>A
c.93T>A (p.Ala31=)
c.1455T>A (p.Ala485=)
c.1359T>A (p.Ala453=)
c.966T>A (p.Ala322=)
c.1362T>A (p.Ala454=)
c.393T>A (p.Ala131=)
20g.63414944G>ACA409646257KCNQ2c.1430C>T (p.Ala477Val)
c.1484C>T (p.Ala495Val)
c.881C>T (p.Ala294Val)
c.1394C>T (p.Ala465Val)
c.1052C>T (p.Ala351Val)
c.1400C>T (p.Ala467Val)
c.1364C>T (p.Ala455Val)
c.544C>T
c.92C>T (p.Ala31Val)
c.1454C>T (p.Ala485Val)
c.1358C>T (p.Ala453Val)
c.965C>T (p.Ala322Val)
c.1361C>T (p.Ala454Val)
c.392C>T (p.Ala131Val)
20g.63414944G>CCA409646258KCNQ2c.1430C>G (p.Ala477Gly)
c.1484C>G (p.Ala495Gly)
c.881C>G (p.Ala294Gly)
c.1394C>G (p.Ala465Gly)
c.1052C>G (p.Ala351Gly)
c.1400C>G (p.Ala467Gly)
c.1364C>G (p.Ala455Gly)
c.544C>G
c.92C>G (p.Ala31Gly)
c.1454C>G (p.Ala485Gly)
c.1358C>G (p.Ala453Gly)
c.965C>G (p.Ala322Gly)
c.1361C>G (p.Ala454Gly)
c.392C>G (p.Ala131Gly)
20g.63414944G>TCA409646259KCNQ2c.1430C>A (p.Ala477Asp)
c.1484C>A (p.Ala495Asp)
c.881C>A (p.Ala294Asp)
c.1394C>A (p.Ala465Asp)
c.1052C>A (p.Ala351Asp)
c.1400C>A (p.Ala467Asp)
c.1364C>A (p.Ala455Asp)
c.544C>A
c.92C>A (p.Ala31Asp)
c.1454C>A (p.Ala485Asp)
c.1358C>A (p.Ala453Asp)
c.965C>A (p.Ala322Asp)
c.1361C>A (p.Ala454Asp)
c.392C>A (p.Ala131Asp)
20g.63414945C>ACA409646261KCNQ2c.1429G>T (p.Ala477Ser)
c.1483G>T (p.Ala495Ser)
c.880G>T (p.Ala294Ser)
c.1393G>T (p.Ala465Ser)
c.1051G>T (p.Ala351Ser)
c.1399G>T (p.Ala467Ser)
c.1363G>T (p.Ala455Ser)
c.543G>T
c.91G>T (p.Ala31Ser)
c.1453G>T (p.Ala485Ser)
c.1357G>T (p.Ala453Ser)
c.964G>T (p.Ala322Ser)
c.1360G>T (p.Ala454Ser)
c.391G>T (p.Ala131Ser)
20g.63414945C=CA2374778781KCNQ2c.1429G= (p.Ala477=)
c.1483G= (p.Ala495=)
c.880G= (p.Ala294=)
c.1393G= (p.Ala465=)
c.1051G= (p.Ala351=)
c.1399G= (p.Ala467=)
c.1363G= (p.Ala455=)
c.543G=
c.91G= (p.Ala31=)
c.1453G= (p.Ala485=)
c.1357G= (p.Ala453=)
c.964G= (p.Ala322=)
c.1360G= (p.Ala454=)
c.391G= (p.Ala131=)
20g.63414945C>GCA9958451KCNQ2c.1429G>C (p.Ala477Pro)
c.1483G>C (p.Ala495Pro)
c.880G>C (p.Ala294Pro)
c.1393G>C (p.Ala465Pro)
c.1051G>C (p.Ala351Pro)
c.1399G>C (p.Ala467Pro)
c.1363G>C (p.Ala455Pro)
c.543G>C
c.91G>C (p.Ala31Pro)
c.1453G>C (p.Ala485Pro)
c.1357G>C (p.Ala453Pro)
c.964G>C (p.Ala322Pro)
c.1360G>C (p.Ala454Pro)
c.391G>C (p.Ala131Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414945C>TCA409646262KCNQ2c.1429G>A (p.Ala477Thr)
c.1483G>A (p.Ala495Thr)
c.880G>A (p.Ala294Thr)
c.1393G>A (p.Ala465Thr)
c.1051G>A (p.Ala351Thr)
c.1399G>A (p.Ala467Thr)
c.1363G>A (p.Ala455Thr)
c.543G>A
c.91G>A (p.Ala31Thr)
c.1453G>A (p.Ala485Thr)
c.1357G>A (p.Ala453Thr)
c.964G>A (p.Ala322Thr)
c.1360G>A (p.Ala454Thr)
c.391G>A (p.Ala131Thr)
 gnomAD v4
20g.63414945_63414948delinsCCTGCA2374778780KCNQ2c.1426_1429delinsCAGG (p.Gln476=)
c.1480_1483delinsCAGG (p.Gln494=)
c.877_880delinsCAGG (p.Gln293=)
c.1390_1393delinsCAGG (p.Gln464=)
c.1048_1051delinsCAGG (p.Gln350=)
c.1396_1399delinsCAGG (p.Gln466=)
c.1360_1363delinsCAGG (p.Gln454=)
c.540_543delinsCAGG
c.88_91delinsCAGG (p.Gln30=)
c.1450_1453delinsCAGG (p.Gln484=)
c.1354_1357delinsCAGG (p.Gln452=)
c.961_964delinsCAGG (p.Gln321=)
c.1357_1360delinsCAGG (p.Gln453=)
c.388_391delinsCAGG (p.Gln130=)
20g.63414946C>ACA409646265KCNQ2c.1428G>T (p.Gln476His)
c.1482G>T (p.Gln494His)
c.879G>T (p.Gln293His)
c.1392G>T (p.Gln464His)
c.1050G>T (p.Gln350His)
c.1398G>T (p.Gln466His)
c.1362G>T (p.Gln454His)
c.542G>T
c.90G>T (p.Gln30His)
c.1452G>T (p.Gln484His)
c.1356G>T (p.Gln452His)
c.963G>T (p.Gln321His)
c.1359G>T (p.Gln453His)
c.390G>T (p.Gln130His)
20g.63414946C>GCA409646266KCNQ2c.1428G>C (p.Gln476His)
c.1482G>C (p.Gln494His)
c.879G>C (p.Gln293His)
c.1392G>C (p.Gln464His)
c.1050G>C (p.Gln350His)
c.1398G>C (p.Gln466His)
c.1362G>C (p.Gln454His)
c.542G>C
c.90G>C (p.Gln30His)
c.1452G>C (p.Gln484His)
c.1356G>C (p.Gln452His)
c.963G>C (p.Gln321His)
c.1359G>C (p.Gln453His)
c.390G>C (p.Gln130His)
20g.63414946C>TCA511339672KCNQ2c.1428G>A (p.Gln476=)
c.1482G>A (p.Gln494=)
c.879G>A (p.Gln293=)
c.1392G>A (p.Gln464=)
c.1050G>A (p.Gln350=)
c.1398G>A (p.Gln466=)
c.1362G>A (p.Gln454=)
c.542G>A
c.90G>A (p.Gln30=)
c.1452G>A (p.Gln484=)
c.1356G>A (p.Gln452=)
c.963G>A (p.Gln321=)
c.1359G>A (p.Gln453=)
c.390G>A (p.Gln130=)
20g.63414946_63414948delCA317430957KCNQ2c.1426_1428del (p.Gln476del)
c.1480_1482del (p.Gln494del)
c.877_879del (p.Gln293del)
c.1390_1392del (p.Gln464del)
c.1048_1050del (p.Gln350del)
c.1396_1398del (p.Gln466del)
c.1360_1362del (p.Gln454del)
c.540_542del
c.88_90del (p.Gln30del)
c.1450_1452del (p.Gln484del)
c.1354_1356del (p.Gln452del)
c.961_963del (p.Gln321del)
c.1357_1359del (p.Gln453del)
c.388_390del (p.Gln130del)
 dbSNP
20g.63414947T>ACA409646270KCNQ2c.1427A>T (p.Gln476Leu)
c.1481A>T (p.Gln494Leu)
c.878A>T (p.Gln293Leu)
c.1391A>T (p.Gln464Leu)
c.1049A>T (p.Gln350Leu)
c.1397A>T (p.Gln466Leu)
c.1361A>T (p.Gln454Leu)
c.541A>T
c.89A>T (p.Gln30Leu)
c.1451A>T (p.Gln484Leu)
c.1355A>T (p.Gln452Leu)
c.962A>T (p.Gln321Leu)
c.1358A>T (p.Gln453Leu)
c.389A>T (p.Gln130Leu)
20g.63414947T>CCA409646271KCNQ2c.1427A>G (p.Gln476Arg)
c.1481A>G (p.Gln494Arg)
c.878A>G (p.Gln293Arg)
c.1391A>G (p.Gln464Arg)
c.1049A>G (p.Gln350Arg)
c.1397A>G (p.Gln466Arg)
c.1361A>G (p.Gln454Arg)
c.541A>G
c.89A>G (p.Gln30Arg)
c.1451A>G (p.Gln484Arg)
c.1355A>G (p.Gln452Arg)
c.962A>G (p.Gln321Arg)
c.1358A>G (p.Gln453Arg)
c.389A>G (p.Gln130Arg)
20g.63414947T>GCA409646276KCNQ2c.1427A>C (p.Gln476Pro)
c.1481A>C (p.Gln494Pro)
c.878A>C (p.Gln293Pro)
c.1391A>C (p.Gln464Pro)
c.1049A>C (p.Gln350Pro)
c.1397A>C (p.Gln466Pro)
c.1361A>C (p.Gln454Pro)
c.541A>C
c.89A>C (p.Gln30Pro)
c.1451A>C (p.Gln484Pro)
c.1355A>C (p.Gln452Pro)
c.962A>C (p.Gln321Pro)
c.1358A>C (p.Gln453Pro)
c.389A>C (p.Gln130Pro)
20g.63414948G>ACA409646279KCNQ2c.1426C>T (p.Gln476Ter)
c.1480C>T (p.Gln494Ter)
c.877C>T (p.Gln293Ter)
c.1390C>T (p.Gln464Ter)
c.1048C>T (p.Gln350Ter)
c.1396C>T (p.Gln466Ter)
c.1360C>T (p.Gln454Ter)
c.540C>T
c.88C>T (p.Gln30Ter)
c.1450C>T (p.Gln484Ter)
c.1354C>T (p.Gln452Ter)
c.961C>T (p.Gln321Ter)
c.1357C>T (p.Gln453Ter)
c.388C>T (p.Gln130Ter)
 ClinVar dbSNP
20g.63414948G>CCA409646284KCNQ2c.1426C>G (p.Gln476Glu)
c.1480C>G (p.Gln494Glu)
c.877C>G (p.Gln293Glu)
c.1390C>G (p.Gln464Glu)
c.1048C>G (p.Gln350Glu)
c.1396C>G (p.Gln466Glu)
c.1360C>G (p.Gln454Glu)
c.540C>G
c.88C>G (p.Gln30Glu)
c.1450C>G (p.Gln484Glu)
c.1354C>G (p.Gln452Glu)
c.961C>G (p.Gln321Glu)
c.1357C>G (p.Gln453Glu)
c.388C>G (p.Gln130Glu)
20g.63414948G>TCA409646282KCNQ2c.1426C>A (p.Gln476Lys)
c.1480C>A (p.Gln494Lys)
c.877C>A (p.Gln293Lys)
c.1390C>A (p.Gln464Lys)
c.1048C>A (p.Gln350Lys)
c.1396C>A (p.Gln466Lys)
c.1360C>A (p.Gln454Lys)
c.540C>A
c.88C>A (p.Gln30Lys)
c.1450C>A (p.Gln484Lys)
c.1354C>A (p.Gln452Lys)
c.961C>A (p.Gln321Lys)
c.1357C>A (p.Gln453Lys)
c.388C>A (p.Gln130Lys)
20g.63414949G>ACA511339673KCNQ2c.1425C>T (p.Arg475=)
c.1479C>T (p.Arg493=)
c.876C>T (p.Arg292=)
c.1389C>T (p.Arg463=)
c.1047C>T (p.Arg349=)
c.1395C>T (p.Arg465=)
c.1359C>T (p.Arg453=)
c.539C>T
c.87C>T (p.Arg29=)
c.1449C>T (p.Arg483=)
c.1353C>T (p.Arg451=)
c.960C>T (p.Arg320=)
c.1356C>T (p.Arg452=)
c.387C>T (p.Arg129=)
20g.63414949G>CCA511339674KCNQ2c.1425C>G (p.Arg475=)
c.1479C>G (p.Arg493=)
c.876C>G (p.Arg292=)
c.1389C>G (p.Arg463=)
c.1047C>G (p.Arg349=)
c.1395C>G (p.Arg465=)
c.1359C>G (p.Arg453=)
c.539C>G
c.87C>G (p.Arg29=)
c.1449C>G (p.Arg483=)
c.1353C>G (p.Arg451=)
c.960C>G (p.Arg320=)
c.1356C>G (p.Arg452=)
c.387C>G (p.Arg129=)
20g.63414949G>TCA511339675KCNQ2c.1425C>A (p.Arg475=)
c.1479C>A (p.Arg493=)
c.876C>A (p.Arg292=)
c.1389C>A (p.Arg463=)
c.1047C>A (p.Arg349=)
c.1395C>A (p.Arg465=)
c.1359C>A (p.Arg453=)
c.539C>A
c.87C>A (p.Arg29=)
c.1449C>A (p.Arg483=)
c.1353C>A (p.Arg451=)
c.960C>A (p.Arg320=)
c.1356C>A (p.Arg452=)
c.387C>A (p.Arg129=)
20g.63414950C>ACA409646288KCNQ2c.1424G>T (p.Arg475Leu)
c.1478G>T (p.Arg493Leu)
c.875G>T (p.Arg292Leu)
c.1388G>T (p.Arg463Leu)
c.1046G>T (p.Arg349Leu)
c.1394G>T (p.Arg465Leu)
c.1358G>T (p.Arg453Leu)
c.538G>T
c.86G>T (p.Arg29Leu)
c.1448G>T (p.Arg483Leu)
c.1352G>T (p.Arg451Leu)
c.959G>T (p.Arg320Leu)
c.1355G>T (p.Arg452Leu)
c.386G>T (p.Arg129Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63414950C=CA2374778782KCNQ2c.1424G= (p.Arg475=)
c.1478G= (p.Arg493=)
c.875G= (p.Arg292=)
c.1388G= (p.Arg463=)
c.1046G= (p.Arg349=)
c.1394G= (p.Arg465=)
c.1358G= (p.Arg453=)
c.538G=
c.86G= (p.Arg29=)
c.1448G= (p.Arg483=)
c.1352G= (p.Arg451=)
c.959G= (p.Arg320=)
c.1355G= (p.Arg452=)
c.386G= (p.Arg129=)
20g.63414950C>GCA409646291KCNQ2c.1424G>C (p.Arg475Pro)
c.1478G>C (p.Arg493Pro)
c.875G>C (p.Arg292Pro)
c.1388G>C (p.Arg463Pro)
c.1046G>C (p.Arg349Pro)
c.1394G>C (p.Arg465Pro)
c.1358G>C (p.Arg453Pro)
c.538G>C
c.86G>C (p.Arg29Pro)
c.1448G>C (p.Arg483Pro)
c.1352G>C (p.Arg451Pro)
c.959G>C (p.Arg320Pro)
c.1355G>C (p.Arg452Pro)
c.386G>C (p.Arg129Pro)
20g.63414950C>TCA9958452KCNQ2c.1424G>A (p.Arg475His)
c.1478G>A (p.Arg493His)
c.875G>A (p.Arg292His)
c.1388G>A (p.Arg463His)
c.1046G>A (p.Arg349His)
c.1394G>A (p.Arg465His)
c.1358G>A (p.Arg453His)
c.538G>A
c.86G>A (p.Arg29His)
c.1448G>A (p.Arg483His)
c.1352G>A (p.Arg451His)
c.959G>A (p.Arg320His)
c.1355G>A (p.Arg452His)
c.386G>A (p.Arg129His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414951G>ACA9958453KCNQ2c.1423C>T (p.Arg475Cys)
c.1477C>T (p.Arg493Cys)
c.874C>T (p.Arg292Cys)
c.1387C>T (p.Arg463Cys)
c.1045C>T (p.Arg349Cys)
c.1393C>T (p.Arg465Cys)
c.1357C>T (p.Arg453Cys)
c.537C>T
c.85C>T (p.Arg29Cys)
c.1447C>T (p.Arg483Cys)
c.1351C>T (p.Arg451Cys)
c.958C>T (p.Arg320Cys)
c.1354C>T (p.Arg452Cys)
c.385C>T (p.Arg129Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414951G>CCA409646295KCNQ2c.1423C>G (p.Arg475Gly)
c.1477C>G (p.Arg493Gly)
c.874C>G (p.Arg292Gly)
c.1387C>G (p.Arg463Gly)
c.1045C>G (p.Arg349Gly)
c.1393C>G (p.Arg465Gly)
c.1357C>G (p.Arg453Gly)
c.537C>G
c.85C>G (p.Arg29Gly)
c.1447C>G (p.Arg483Gly)
c.1351C>G (p.Arg451Gly)
c.958C>G (p.Arg320Gly)
c.1354C>G (p.Arg452Gly)
c.385C>G (p.Arg129Gly)
20g.63414951G=CA2374778783KCNQ2c.1423C= (p.Arg475=)
c.1477C= (p.Arg493=)
c.874C= (p.Arg292=)
c.1387C= (p.Arg463=)
c.1045C= (p.Arg349=)
c.1393C= (p.Arg465=)
c.1357C= (p.Arg453=)
c.537C=
c.85C= (p.Arg29=)
c.1447C= (p.Arg483=)
c.1351C= (p.Arg451=)
c.958C= (p.Arg320=)
c.1354C= (p.Arg452=)
c.385C= (p.Arg129=)
20g.63414951G>TCA409646297KCNQ2c.1423C>A (p.Arg475Ser)
c.1477C>A (p.Arg493Ser)
c.874C>A (p.Arg292Ser)
c.1387C>A (p.Arg463Ser)
c.1045C>A (p.Arg349Ser)
c.1393C>A (p.Arg465Ser)
c.1357C>A (p.Arg453Ser)
c.537C>A
c.85C>A (p.Arg29Ser)
c.1447C>A (p.Arg483Ser)
c.1351C>A (p.Arg451Ser)
c.958C>A (p.Arg320Ser)
c.1354C>A (p.Arg452Ser)
c.385C>A (p.Arg129Ser)
20g.63414952T>ACA511339679KCNQ2c.1422A>T (p.Ala474=)
c.1476A>T (p.Ala492=)
c.873A>T (p.Ala291=)
c.1386A>T (p.Ala462=)
c.1044A>T (p.Ala348=)
c.1392A>T (p.Ala464=)
c.1356A>T (p.Ala452=)
c.536A>T
c.84A>T (p.Ala28=)
c.1446A>T (p.Ala482=)
c.1350A>T (p.Ala450=)
c.957A>T (p.Ala319=)
c.1353A>T (p.Ala451=)
c.384A>T (p.Ala128=)
 dbSNP
20g.63414952T>CCA511339678KCNQ2c.1422A>G (p.Ala474=)
c.1476A>G (p.Ala492=)
c.873A>G (p.Ala291=)
c.1386A>G (p.Ala462=)
c.1044A>G (p.Ala348=)
c.1392A>G (p.Ala464=)
c.1356A>G (p.Ala452=)
c.536A>G
c.84A>G (p.Ala28=)
c.1446A>G (p.Ala482=)
c.1350A>G (p.Ala450=)
c.957A>G (p.Ala319=)
c.1353A>G (p.Ala451=)
c.384A>G (p.Ala128=)
20g.63414952T>GCA511339677KCNQ2c.1422A>C (p.Ala474=)
c.1476A>C (p.Ala492=)
c.873A>C (p.Ala291=)
c.1386A>C (p.Ala462=)
c.1044A>C (p.Ala348=)
c.1392A>C (p.Ala464=)
c.1356A>C (p.Ala452=)
c.536A>C
c.84A>C (p.Ala28=)
c.1446A>C (p.Ala482=)
c.1350A>C (p.Ala450=)
c.957A>C (p.Ala319=)
c.1353A>C (p.Ala451=)
c.384A>C (p.Ala128=)
20g.63414953G>ACA409646298KCNQ2c.1421C>T (p.Ala474Val)
c.1475C>T (p.Ala492Val)
c.872C>T (p.Ala291Val)
c.1385C>T (p.Ala462Val)
c.1043C>T (p.Ala348Val)
c.1391C>T (p.Ala464Val)
c.1355C>T (p.Ala452Val)
c.535C>T
c.83C>T (p.Ala28Val)
c.1445C>T (p.Ala482Val)
c.1349C>T (p.Ala450Val)
c.956C>T (p.Ala319Val)
c.1352C>T (p.Ala451Val)
c.383C>T (p.Ala128Val)
 dbSNP COSMIC COSMIC COSMIC
20g.63414953G>CCA409646299KCNQ2c.1421C>G (p.Ala474Gly)
c.1475C>G (p.Ala492Gly)
c.872C>G (p.Ala291Gly)
c.1385C>G (p.Ala462Gly)
c.1043C>G (p.Ala348Gly)
c.1391C>G (p.Ala464Gly)
c.1355C>G (p.Ala452Gly)
c.535C>G
c.83C>G (p.Ala28Gly)
c.1445C>G (p.Ala482Gly)
c.1349C>G (p.Ala450Gly)
c.956C>G (p.Ala319Gly)
c.1352C>G (p.Ala451Gly)
c.383C>G (p.Ala128Gly)
20g.63414953G>TCA409646302KCNQ2c.1421C>A (p.Ala474Glu)
c.1475C>A (p.Ala492Glu)
c.872C>A (p.Ala291Glu)
c.1385C>A (p.Ala462Glu)
c.1043C>A (p.Ala348Glu)
c.1391C>A (p.Ala464Glu)
c.1355C>A (p.Ala452Glu)
c.535C>A
c.83C>A (p.Ala28Glu)
c.1445C>A (p.Ala482Glu)
c.1349C>A (p.Ala450Glu)
c.956C>A (p.Ala319Glu)
c.1352C>A (p.Ala451Glu)
c.383C>A (p.Ala128Glu)
20g.63414954C>ACA409646306KCNQ2c.1420G>T (p.Ala474Ser)
c.1474G>T (p.Ala492Ser)
c.871G>T (p.Ala291Ser)
c.1384G>T (p.Ala462Ser)
c.1042G>T (p.Ala348Ser)
c.1390G>T (p.Ala464Ser)
c.1354G>T (p.Ala452Ser)
c.534G>T
c.82G>T (p.Ala28Ser)
c.1444G>T (p.Ala482Ser)
c.1348G>T (p.Ala450Ser)
c.955G>T (p.Ala319Ser)
c.1351G>T (p.Ala451Ser)
c.382G>T (p.Ala128Ser)
20g.63414954C>GCA409646308KCNQ2c.1420G>C (p.Ala474Pro)
c.1474G>C (p.Ala492Pro)
c.871G>C (p.Ala291Pro)
c.1384G>C (p.Ala462Pro)
c.1042G>C (p.Ala348Pro)
c.1390G>C (p.Ala464Pro)
c.1354G>C (p.Ala452Pro)
c.534G>C
c.82G>C (p.Ala28Pro)
c.1444G>C (p.Ala482Pro)
c.1348G>C (p.Ala450Pro)
c.955G>C (p.Ala319Pro)
c.1351G>C (p.Ala451Pro)
c.382G>C (p.Ala128Pro)
20g.63414954C>TCA409646304KCNQ2c.1420G>A (p.Ala474Thr)
c.1474G>A (p.Ala492Thr)
c.871G>A (p.Ala291Thr)
c.1384G>A (p.Ala462Thr)
c.1042G>A (p.Ala348Thr)
c.1390G>A (p.Ala464Thr)
c.1354G>A (p.Ala452Thr)
c.534G>A
c.82G>A (p.Ala28Thr)
c.1444G>A (p.Ala482Thr)
c.1348G>A (p.Ala450Thr)
c.955G>A (p.Ala319Thr)
c.1351G>A (p.Ala451Thr)
c.382G>A (p.Ala128Thr)
 ClinVar dbSNP
20g.63414955C>ACA511339680KCNQ2c.1419G>T (p.Arg473=)
c.1473G>T (p.Arg491=)
c.870G>T (p.Arg290=)
c.1383G>T (p.Arg461=)
c.1041G>T (p.Arg347=)
c.1389G>T (p.Arg463=)
c.1353G>T (p.Arg451=)
c.533G>T
c.81G>T (p.Arg27=)
c.1443G>T (p.Arg481=)
c.1347G>T (p.Arg449=)
c.954G>T (p.Arg318=)
c.1350G>T (p.Arg450=)
c.381G>T (p.Arg127=)
20g.63414955C=CA2374778784KCNQ2c.1419G= (p.Arg473=)
c.1473G= (p.Arg491=)
c.870G= (p.Arg290=)
c.1383G= (p.Arg461=)
c.1041G= (p.Arg347=)
c.1389G= (p.Arg463=)
c.1353G= (p.Arg451=)
c.533G=
c.81G= (p.Arg27=)
c.1443G= (p.Arg481=)
c.1347G= (p.Arg449=)
c.954G= (p.Arg318=)
c.1350G= (p.Arg450=)
c.381G= (p.Arg127=)
20g.63414955C>GCA511339682KCNQ2c.1419G>C (p.Arg473=)
c.1473G>C (p.Arg491=)
c.870G>C (p.Arg290=)
c.1383G>C (p.Arg461=)
c.1041G>C (p.Arg347=)
c.1389G>C (p.Arg463=)
c.1353G>C (p.Arg451=)
c.533G>C
c.81G>C (p.Arg27=)
c.1443G>C (p.Arg481=)
c.1347G>C (p.Arg449=)
c.954G>C (p.Arg318=)
c.1350G>C (p.Arg450=)
c.381G>C (p.Arg127=)
20g.63414955C>TCA511339683KCNQ2c.1419G>A (p.Arg473=)
c.1473G>A (p.Arg491=)
c.870G>A (p.Arg290=)
c.1383G>A (p.Arg461=)
c.1041G>A (p.Arg347=)
c.1389G>A (p.Arg463=)
c.1353G>A (p.Arg451=)
c.533G>A
c.81G>A (p.Arg27=)
c.1443G>A (p.Arg481=)
c.1347G>A (p.Arg449=)
c.954G>A (p.Arg318=)
c.1350G>A (p.Arg450=)
c.381G>A (p.Arg127=)
 dbSNP gnomAD v2
20g.63414956C>ACA409646311KCNQ2c.1418G>T (p.Arg473Leu)
c.1472G>T (p.Arg491Leu)
c.869G>T (p.Arg290Leu)
c.1382G>T (p.Arg461Leu)
c.1040G>T (p.Arg347Leu)
c.1388G>T (p.Arg463Leu)
c.1352G>T (p.Arg451Leu)
c.532G>T
c.80G>T (p.Arg27Leu)
c.1442G>T (p.Arg481Leu)
c.1346G>T (p.Arg449Leu)
c.953G>T (p.Arg318Leu)
c.1349G>T (p.Arg450Leu)
c.380G>T (p.Arg127Leu)
20g.63414956C=CA2374778785KCNQ2c.1418G= (p.Arg473=)
c.1472G= (p.Arg491=)
c.869G= (p.Arg290=)
c.1382G= (p.Arg461=)
c.1040G= (p.Arg347=)
c.1388G= (p.Arg463=)
c.1352G= (p.Arg451=)
c.532G=
c.80G= (p.Arg27=)
c.1442G= (p.Arg481=)
c.1346G= (p.Arg449=)
c.953G= (p.Arg318=)
c.1349G= (p.Arg450=)
c.380G= (p.Arg127=)
20g.63414956C>GCA409646314KCNQ2c.1418G>C (p.Arg473Pro)
c.1472G>C (p.Arg491Pro)
c.869G>C (p.Arg290Pro)
c.1382G>C (p.Arg461Pro)
c.1040G>C (p.Arg347Pro)
c.1388G>C (p.Arg463Pro)
c.1352G>C (p.Arg451Pro)
c.532G>C
c.80G>C (p.Arg27Pro)
c.1442G>C (p.Arg481Pro)
c.1346G>C (p.Arg449Pro)
c.953G>C (p.Arg318Pro)
c.1349G>C (p.Arg450Pro)
c.380G>C (p.Arg127Pro)
20g.63414956C>TCA409646317KCNQ2c.1418G>A (p.Arg473Gln)
c.1472G>A (p.Arg491Gln)
c.869G>A (p.Arg290Gln)
c.1382G>A (p.Arg461Gln)
c.1040G>A (p.Arg347Gln)
c.1388G>A (p.Arg463Gln)
c.1352G>A (p.Arg451Gln)
c.532G>A
c.80G>A (p.Arg27Gln)
c.1442G>A (p.Arg481Gln)
c.1346G>A (p.Arg449Gln)
c.953G>A (p.Arg318Gln)
c.1349G>A (p.Arg450Gln)
c.380G>A (p.Arg127Gln)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.63414957G>ACA409646319KCNQ2c.1417C>T (p.Arg473Trp)
c.1471C>T (p.Arg491Trp)
c.868C>T (p.Arg290Trp)
c.1381C>T (p.Arg461Trp)
c.1039C>T (p.Arg347Trp)
c.1387C>T (p.Arg463Trp)
c.1351C>T (p.Arg451Trp)
c.531C>T
c.79C>T (p.Arg27Trp)
c.1441C>T (p.Arg481Trp)
c.1345C>T (p.Arg449Trp)
c.952C>T (p.Arg318Trp)
c.1348C>T (p.Arg450Trp)
c.379C>T (p.Arg127Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63414957G>CCA409646324KCNQ2c.1417C>G (p.Arg473Gly)
c.1471C>G (p.Arg491Gly)
c.868C>G (p.Arg290Gly)
c.1381C>G (p.Arg461Gly)
c.1039C>G (p.Arg347Gly)
c.1387C>G (p.Arg463Gly)
c.1351C>G (p.Arg451Gly)
c.531C>G
c.79C>G (p.Arg27Gly)
c.1441C>G (p.Arg481Gly)
c.1345C>G (p.Arg449Gly)
c.952C>G (p.Arg318Gly)
c.1348C>G (p.Arg450Gly)
c.379C>G (p.Arg127Gly)
20g.63414957G=CA2374778786KCNQ2c.1417C= (p.Arg473=)
c.1471C= (p.Arg491=)
c.868C= (p.Arg290=)
c.1381C= (p.Arg461=)
c.1039C= (p.Arg347=)
c.1387C= (p.Arg463=)
c.1351C= (p.Arg451=)
c.531C=
c.79C= (p.Arg27=)
c.1441C= (p.Arg481=)
c.1345C= (p.Arg449=)
c.952C= (p.Arg318=)
c.1348C= (p.Arg450=)
c.379C= (p.Arg127=)
20g.63414957G>TCA511339684KCNQ2c.1417C>A (p.Arg473=)
c.1471C>A (p.Arg491=)
c.868C>A (p.Arg290=)
c.1381C>A (p.Arg461=)
c.1039C>A (p.Arg347=)
c.1387C>A (p.Arg463=)
c.1351C>A (p.Arg451=)
c.531C>A
c.79C>A (p.Arg27=)
c.1441C>A (p.Arg481=)
c.1345C>A (p.Arg449=)
c.952C>A (p.Arg318=)
c.1348C>A (p.Arg450=)
c.379C>A (p.Arg127=)
 dbSNP gnomAD v2
20g.63414958G>ACA511339685KCNQ2c.1416C>T (p.Ser472=)
c.1470C>T (p.Ser490=)
c.867C>T (p.Ser289=)
c.1380C>T (p.Ser460=)
c.1038C>T (p.Ser346=)
c.1386C>T (p.Ser462=)
c.1350C>T (p.Ser450=)
c.530C>T
c.78C>T (p.Ser26=)
c.1440C>T (p.Ser480=)
c.1344C>T (p.Ser448=)
c.951C>T (p.Ser317=)
c.1347C>T (p.Ser449=)
c.378C>T (p.Ser126=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63414958G>CCA409646326KCNQ2c.1416C>G (p.Ser472Arg)
c.1470C>G (p.Ser490Arg)
c.867C>G (p.Ser289Arg)
c.1380C>G (p.Ser460Arg)
c.1038C>G (p.Ser346Arg)
c.1386C>G (p.Ser462Arg)
c.1350C>G (p.Ser450Arg)
c.530C>G
c.78C>G (p.Ser26Arg)
c.1440C>G (p.Ser480Arg)
c.1344C>G (p.Ser448Arg)
c.951C>G (p.Ser317Arg)
c.1347C>G (p.Ser449Arg)
c.378C>G (p.Ser126Arg)
20g.63414958G=CA2374778787KCNQ2c.1416C= (p.Ser472=)
c.1470C= (p.Ser490=)
c.867C= (p.Ser289=)
c.1380C= (p.Ser460=)
c.1038C= (p.Ser346=)
c.1386C= (p.Ser462=)
c.1350C= (p.Ser450=)
c.530C=
c.78C= (p.Ser26=)
c.1440C= (p.Ser480=)
c.1344C= (p.Ser448=)
c.951C= (p.Ser317=)
c.1347C= (p.Ser449=)
c.378C= (p.Ser126=)
20g.63414958G>TCA409646328KCNQ2c.1416C>A (p.Ser472Arg)
c.1470C>A (p.Ser490Arg)
c.867C>A (p.Ser289Arg)
c.1380C>A (p.Ser460Arg)
c.1038C>A (p.Ser346Arg)
c.1386C>A (p.Ser462Arg)
c.1350C>A (p.Ser450Arg)
c.530C>A
c.78C>A (p.Ser26Arg)
c.1440C>A (p.Ser480Arg)
c.1344C>A (p.Ser448Arg)
c.951C>A (p.Ser317Arg)
c.1347C>A (p.Ser449Arg)
c.378C>A (p.Ser126Arg)
20g.63414959C>ACA409646330KCNQ2c.1415G>T (p.Ser472Ile)
c.1469G>T (p.Ser490Ile)
c.866G>T (p.Ser289Ile)
c.1379G>T (p.Ser460Ile)
c.1037G>T (p.Ser346Ile)
c.1385G>T (p.Ser462Ile)
c.1349G>T (p.Ser450Ile)
c.529G>T
c.77G>T (p.Ser26Ile)
c.1439G>T (p.Ser480Ile)
c.1343G>T (p.Ser448Ile)
c.950G>T (p.Ser317Ile)
c.1346G>T (p.Ser449Ile)
c.377G>T (p.Ser126Ile)
20g.63414959C>GCA409646333KCNQ2c.1415G>C (p.Ser472Thr)
c.1469G>C (p.Ser490Thr)
c.866G>C (p.Ser289Thr)
c.1379G>C (p.Ser460Thr)
c.1037G>C (p.Ser346Thr)
c.1385G>C (p.Ser462Thr)
c.1349G>C (p.Ser450Thr)
c.529G>C
c.77G>C (p.Ser26Thr)
c.1439G>C (p.Ser480Thr)
c.1343G>C (p.Ser448Thr)
c.950G>C (p.Ser317Thr)
c.1346G>C (p.Ser449Thr)
c.377G>C (p.Ser126Thr)
20g.63414959C>TCA409646332KCNQ2c.1415G>A (p.Ser472Asn)
c.1469G>A (p.Ser490Asn)
c.866G>A (p.Ser289Asn)
c.1379G>A (p.Ser460Asn)
c.1037G>A (p.Ser346Asn)
c.1385G>A (p.Ser462Asn)
c.1349G>A (p.Ser450Asn)
c.529G>A
c.77G>A (p.Ser26Asn)
c.1439G>A (p.Ser480Asn)
c.1343G>A (p.Ser448Asn)
c.950G>A (p.Ser317Asn)
c.1346G>A (p.Ser449Asn)
c.377G>A (p.Ser126Asn)
20g.63414960T>ACA409646336KCNQ2c.1414A>T (p.Ser472Cys)
c.1468A>T (p.Ser490Cys)
c.865A>T (p.Ser289Cys)
c.1378A>T (p.Ser460Cys)
c.1036A>T (p.Ser346Cys)
c.1384A>T (p.Ser462Cys)
c.1348A>T (p.Ser450Cys)
c.528A>T
c.76A>T (p.Ser26Cys)
c.1438A>T (p.Ser480Cys)
c.1342A>T (p.Ser448Cys)
c.949A>T (p.Ser317Cys)
c.1345A>T (p.Ser449Cys)
c.376A>T (p.Ser126Cys)
20g.63414960T>CCA409646337KCNQ2c.1414A>G (p.Ser472Gly)
c.1468A>G (p.Ser490Gly)
c.865A>G (p.Ser289Gly)
c.1378A>G (p.Ser460Gly)
c.1036A>G (p.Ser346Gly)
c.1384A>G (p.Ser462Gly)
c.1348A>G (p.Ser450Gly)
c.528A>G
c.76A>G (p.Ser26Gly)
c.1438A>G (p.Ser480Gly)
c.1342A>G (p.Ser448Gly)
c.949A>G (p.Ser317Gly)
c.1345A>G (p.Ser449Gly)
c.376A>G (p.Ser126Gly)
20g.63414960T>GCA409646340KCNQ2c.1414A>C (p.Ser472Arg)
c.1468A>C (p.Ser490Arg)
c.865A>C (p.Ser289Arg)
c.1378A>C (p.Ser460Arg)
c.1036A>C (p.Ser346Arg)
c.1384A>C (p.Ser462Arg)
c.1348A>C (p.Ser450Arg)
c.528A>C
c.76A>C (p.Ser26Arg)
c.1438A>C (p.Ser480Arg)
c.1342A>C (p.Ser448Arg)
c.949A>C (p.Ser317Arg)
c.1345A>C (p.Ser449Arg)
c.376A>C (p.Ser126Arg)
20g.63414961G>ACA9958454KCNQ2c.1413C>T (p.Arg471=)
c.1467C>T (p.Arg489=)
c.864C>T (p.Arg288=)
c.1377C>T (p.Arg459=)
c.1035C>T (p.Arg345=)
c.1383C>T (p.Arg461=)
c.1347C>T (p.Arg449=)
c.527C>T
c.75C>T (p.Arg25=)
c.1437C>T (p.Arg479=)
c.1341C>T (p.Arg447=)
c.948C>T (p.Arg316=)
c.1344C>T (p.Arg448=)
c.375C>T (p.Arg125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414961G>CCA511339686KCNQ2c.1413C>G (p.Arg471=)
c.1467C>G (p.Arg489=)
c.864C>G (p.Arg288=)
c.1377C>G (p.Arg459=)
c.1035C>G (p.Arg345=)
c.1383C>G (p.Arg461=)
c.1347C>G (p.Arg449=)
c.527C>G
c.75C>G (p.Arg25=)
c.1437C>G (p.Arg479=)
c.1341C>G (p.Arg447=)
c.948C>G (p.Arg316=)
c.1344C>G (p.Arg448=)
c.375C>G (p.Arg125=)
20g.63414961G=CA2374778788KCNQ2c.1413C= (p.Arg471=)
c.1467C= (p.Arg489=)
c.864C= (p.Arg288=)
c.1377C= (p.Arg459=)
c.1035C= (p.Arg345=)
c.1383C= (p.Arg461=)
c.1347C= (p.Arg449=)
c.527C=
c.75C= (p.Arg25=)
c.1437C= (p.Arg479=)
c.1341C= (p.Arg447=)
c.948C= (p.Arg316=)
c.1344C= (p.Arg448=)
c.375C= (p.Arg125=)
20g.63414961G>TCA511339687KCNQ2c.1413C>A (p.Arg471=)
c.1467C>A (p.Arg489=)
c.864C>A (p.Arg288=)
c.1377C>A (p.Arg459=)
c.1035C>A (p.Arg345=)
c.1383C>A (p.Arg461=)
c.1347C>A (p.Arg449=)
c.527C>A
c.75C>A (p.Arg25=)
c.1437C>A (p.Arg479=)
c.1341C>A (p.Arg447=)
c.948C>A (p.Arg316=)
c.1344C>A (p.Arg448=)
c.375C>A (p.Arg125=)
20g.63414962C>ACA409646345KCNQ2c.1412G>T (p.Arg471Leu)
c.1466G>T (p.Arg489Leu)
c.863G>T (p.Arg288Leu)
c.1376G>T (p.Arg459Leu)
c.1034G>T (p.Arg345Leu)
c.1382G>T (p.Arg461Leu)
c.1346G>T (p.Arg449Leu)
c.526G>T
c.74G>T (p.Arg25Leu)
c.1436G>T (p.Arg479Leu)
c.1340G>T (p.Arg447Leu)
c.947G>T (p.Arg316Leu)
c.1343G>T (p.Arg448Leu)
c.374G>T (p.Arg125Leu)
20g.63414962C=CA2374778789KCNQ2c.1412G= (p.Arg471=)
c.1466G= (p.Arg489=)
c.863G= (p.Arg288=)
c.1376G= (p.Arg459=)
c.1034G= (p.Arg345=)
c.1382G= (p.Arg461=)
c.1346G= (p.Arg449=)
c.526G=
c.74G= (p.Arg25=)
c.1436G= (p.Arg479=)
c.1340G= (p.Arg447=)
c.947G= (p.Arg316=)
c.1343G= (p.Arg448=)
c.374G= (p.Arg125=)
20g.63414962C>GCA409646348KCNQ2c.1412G>C (p.Arg471Pro)
c.1466G>C (p.Arg489Pro)
c.863G>C (p.Arg288Pro)
c.1376G>C (p.Arg459Pro)
c.1034G>C (p.Arg345Pro)
c.1382G>C (p.Arg461Pro)
c.1346G>C (p.Arg449Pro)
c.526G>C
c.74G>C (p.Arg25Pro)
c.1436G>C (p.Arg479Pro)
c.1340G>C (p.Arg447Pro)
c.947G>C (p.Arg316Pro)
c.1343G>C (p.Arg448Pro)
c.374G>C (p.Arg125Pro)
20g.63414962C>TCA317430991KCNQ2c.1412G>A (p.Arg471His)
c.1466G>A (p.Arg489His)
c.863G>A (p.Arg288His)
c.1376G>A (p.Arg459His)
c.1034G>A (p.Arg345His)
c.1382G>A (p.Arg461His)
c.1346G>A (p.Arg449His)
c.526G>A
c.74G>A (p.Arg25His)
c.1436G>A (p.Arg479His)
c.1340G>A (p.Arg447His)
c.947G>A (p.Arg316His)
c.1343G>A (p.Arg448His)
c.374G>A (p.Arg125His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63414963G>ACA9958456KCNQ2c.1411C>T (p.Arg471Cys)
c.1465C>T (p.Arg489Cys)
c.862C>T (p.Arg288Cys)
c.1375C>T (p.Arg459Cys)
c.1033C>T (p.Arg345Cys)
c.1381C>T (p.Arg461Cys)
c.1345C>T (p.Arg449Cys)
c.525C>T
c.73C>T (p.Arg25Cys)
c.1435C>T (p.Arg479Cys)
c.1339C>T (p.Arg447Cys)
c.946C>T (p.Arg316Cys)
c.1342C>T (p.Arg448Cys)
c.373C>T (p.Arg125Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414963G>CCA9958455KCNQ2c.1411C>G (p.Arg471Gly)
c.1465C>G (p.Arg489Gly)
c.862C>G (p.Arg288Gly)
c.1375C>G (p.Arg459Gly)
c.1033C>G (p.Arg345Gly)
c.1381C>G (p.Arg461Gly)
c.1345C>G (p.Arg449Gly)
c.525C>G
c.73C>G (p.Arg25Gly)
c.1435C>G (p.Arg479Gly)
c.1339C>G (p.Arg447Gly)
c.946C>G (p.Arg316Gly)
c.1342C>G (p.Arg448Gly)
c.373C>G (p.Arg125Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414963G=CA2374778790KCNQ2c.1411C= (p.Arg471=)
c.1465C= (p.Arg489=)
c.862C= (p.Arg288=)
c.1375C= (p.Arg459=)
c.1033C= (p.Arg345=)
c.1381C= (p.Arg461=)
c.1345C= (p.Arg449=)
c.525C=
c.73C= (p.Arg25=)
c.1435C= (p.Arg479=)
c.1339C= (p.Arg447=)
c.946C= (p.Arg316=)
c.1342C= (p.Arg448=)
c.373C= (p.Arg125=)
20g.63414963G>TCA409646349KCNQ2c.1411C>A (p.Arg471Ser)
c.1465C>A (p.Arg489Ser)
c.862C>A (p.Arg288Ser)
c.1375C>A (p.Arg459Ser)
c.1033C>A (p.Arg345Ser)
c.1381C>A (p.Arg461Ser)
c.1345C>A (p.Arg449Ser)
c.525C>A
c.73C>A (p.Arg25Ser)
c.1435C>A (p.Arg479Ser)
c.1339C>A (p.Arg447Ser)
c.946C>A (p.Arg316Ser)
c.1342C>A (p.Arg448Ser)
c.373C>A (p.Arg125Ser)
20g.63414964G>ACA511339688KCNQ2c.1410C>T (p.Asp470=)
c.1464C>T (p.Asp488=)
c.861C>T (p.Asp287=)
c.1374C>T (p.Asp458=)
c.1032C>T (p.Asp344=)
c.1380C>T (p.Asp460=)
c.1344C>T (p.Asp448=)
c.524C>T
c.72C>T (p.Asp24=)
c.1434C>T (p.Asp478=)
c.1338C>T (p.Asp446=)
c.945C>T (p.Asp315=)
c.1341C>T (p.Asp447=)
c.372C>T (p.Asp124=)
 dbSNP gnomAD v3 gnomAD v4
20g.63414964G>CCA409646352KCNQ2c.1410C>G (p.Asp470Glu)
c.1464C>G (p.Asp488Glu)
c.861C>G (p.Asp287Glu)
c.1374C>G (p.Asp458Glu)
c.1032C>G (p.Asp344Glu)
c.1380C>G (p.Asp460Glu)
c.1344C>G (p.Asp448Glu)
c.524C>G
c.72C>G (p.Asp24Glu)
c.1434C>G (p.Asp478Glu)
c.1338C>G (p.Asp446Glu)
c.945C>G (p.Asp315Glu)
c.1341C>G (p.Asp447Glu)
c.372C>G (p.Asp124Glu)
 ClinVar gnomAD v4
20g.63414964G=CA2374778791KCNQ2c.1410C= (p.Asp470=)
c.1464C= (p.Asp488=)
c.861C= (p.Asp287=)
c.1374C= (p.Asp458=)
c.1032C= (p.Asp344=)
c.1380C= (p.Asp460=)
c.1344C= (p.Asp448=)
c.524C=
c.72C= (p.Asp24=)
c.1434C= (p.Asp478=)
c.1338C= (p.Asp446=)
c.945C= (p.Asp315=)
c.1341C= (p.Asp447=)
c.372C= (p.Asp124=)
20g.63414964G>TCA409646353KCNQ2c.1410C>A (p.Asp470Glu)
c.1464C>A (p.Asp488Glu)
c.861C>A (p.Asp287Glu)
c.1374C>A (p.Asp458Glu)
c.1032C>A (p.Asp344Glu)
c.1380C>A (p.Asp460Glu)
c.1344C>A (p.Asp448Glu)
c.524C>A
c.72C>A (p.Asp24Glu)
c.1434C>A (p.Asp478Glu)
c.1338C>A (p.Asp446Glu)
c.945C>A (p.Asp315Glu)
c.1341C>A (p.Asp447Glu)
c.372C>A (p.Asp124Glu)
 gnomAD v4
20g.63414965T>ACA409646355KCNQ2c.1409A>T (p.Asp470Val)
c.1463A>T (p.Asp488Val)
c.860A>T (p.Asp287Val)
c.1373A>T (p.Asp458Val)
c.1031A>T (p.Asp344Val)
c.1379A>T (p.Asp460Val)
c.1343A>T (p.Asp448Val)
c.523A>T
c.71A>T (p.Asp24Val)
c.1433A>T (p.Asp478Val)
c.1337A>T (p.Asp446Val)
c.944A>T (p.Asp315Val)
c.1340A>T (p.Asp447Val)
c.371A>T (p.Asp124Val)
20g.63414965T>CCA409646358KCNQ2c.1409A>G (p.Asp470Gly)
c.1463A>G (p.Asp488Gly)
c.860A>G (p.Asp287Gly)
c.1373A>G (p.Asp458Gly)
c.1031A>G (p.Asp344Gly)
c.1379A>G (p.Asp460Gly)
c.1343A>G (p.Asp448Gly)
c.523A>G
c.71A>G (p.Asp24Gly)
c.1433A>G (p.Asp478Gly)
c.1337A>G (p.Asp446Gly)
c.944A>G (p.Asp315Gly)
c.1340A>G (p.Asp447Gly)
c.371A>G (p.Asp124Gly)
20g.63414965T>GCA409646361KCNQ2c.1409A>C (p.Asp470Ala)
c.1463A>C (p.Asp488Ala)
c.860A>C (p.Asp287Ala)
c.1373A>C (p.Asp458Ala)
c.1031A>C (p.Asp344Ala)
c.1379A>C (p.Asp460Ala)
c.1343A>C (p.Asp448Ala)
c.523A>C
c.71A>C (p.Asp24Ala)
c.1433A>C (p.Asp478Ala)
c.1337A>C (p.Asp446Ala)
c.944A>C (p.Asp315Ala)
c.1340A>C (p.Asp447Ala)
c.371A>C (p.Asp124Ala)
20g.63414966C>ACA409646366KCNQ2c.1408G>T (p.Asp470Tyr)
c.1462G>T (p.Asp488Tyr)
c.859G>T (p.Asp287Tyr)
c.1372G>T (p.Asp458Tyr)
c.1030G>T (p.Asp344Tyr)
c.1378G>T (p.Asp460Tyr)
c.1342G>T (p.Asp448Tyr)
c.522G>T
c.70G>T (p.Asp24Tyr)
c.1432G>T (p.Asp478Tyr)
c.1336G>T (p.Asp446Tyr)
c.943G>T (p.Asp315Tyr)
c.1339G>T (p.Asp447Tyr)
c.370G>T (p.Asp124Tyr)
20g.63414966C>GCA409646367KCNQ2c.1408G>C (p.Asp470His)
c.1462G>C (p.Asp488His)
c.859G>C (p.Asp287His)
c.1372G>C (p.Asp458His)
c.1030G>C (p.Asp344His)
c.1378G>C (p.Asp460His)
c.1342G>C (p.Asp448His)
c.522G>C
c.70G>C (p.Asp24His)
c.1432G>C (p.Asp478His)
c.1336G>C (p.Asp446His)
c.943G>C (p.Asp315His)
c.1339G>C (p.Asp447His)
c.370G>C (p.Asp124His)
20g.63414966C>TCA409646368KCNQ2c.1408G>A (p.Asp470Asn)
c.1462G>A (p.Asp488Asn)
c.859G>A (p.Asp287Asn)
c.1372G>A (p.Asp458Asn)
c.1030G>A (p.Asp344Asn)
c.1378G>A (p.Asp460Asn)
c.1342G>A (p.Asp448Asn)
c.522G>A
c.70G>A (p.Asp24Asn)
c.1432G>A (p.Asp478Asn)
c.1336G>A (p.Asp446Asn)
c.943G>A (p.Asp315Asn)
c.1339G>A (p.Asp447Asn)
c.370G>A (p.Asp124Asn)
20g.63414969delCA2737060607KCNQ2c.1408del (p.Asp470ThrfsTer?)
c.1462del (p.Asp488ThrfsTer?)
c.859del (p.Asp287ThrfsTer?)
c.1372del (p.Asp458ThrfsTer?)
c.1030del (p.Asp344ThrfsTer?)
c.1378del (p.Asp460ThrfsTer?)
c.1342del (p.Asp448ThrfsTer?)
c.522del
c.70del (p.Asp24ThrfsTer?)
c.1432del (p.Asp478ThrfsTer?)
c.1336del (p.Asp446ThrfsTer?)
c.943del (p.Asp315ThrfsTer?)
c.1339del (p.Asp447ThrfsTer?)
c.370del (p.Asp124ThrfsTer?)
 dbSNP
20g.63414967C>ACA511339693KCNQ2c.1407G>T (p.Gly469=)
c.1461G>T (p.Gly487=)
c.858G>T (p.Gly286=)
c.1371G>T (p.Gly457=)
c.1029G>T (p.Gly343=)
c.1377G>T (p.Gly459=)
c.1341G>T (p.Gly447=)
c.521G>T
c.69G>T (p.Gly23=)
c.1431G>T (p.Gly477=)
c.1335G>T (p.Gly445=)
c.942G>T (p.Gly314=)
c.1338G>T (p.Gly446=)
c.369G>T (p.Gly123=)
20g.63414967C>GCA511339691KCNQ2c.1407G>C (p.Gly469=)
c.1461G>C (p.Gly487=)
c.858G>C (p.Gly286=)
c.1371G>C (p.Gly457=)
c.1029G>C (p.Gly343=)
c.1377G>C (p.Gly459=)
c.1341G>C (p.Gly447=)
c.521G>C
c.69G>C (p.Gly23=)
c.1431G>C (p.Gly477=)
c.1335G>C (p.Gly445=)
c.942G>C (p.Gly314=)
c.1338G>C (p.Gly446=)
c.369G>C (p.Gly123=)
20g.63414967C>TCA511339689KCNQ2c.1407G>A (p.Gly469=)
c.1461G>A (p.Gly487=)
c.858G>A (p.Gly286=)
c.1371G>A (p.Gly457=)
c.1029G>A (p.Gly343=)
c.1377G>A (p.Gly459=)
c.1341G>A (p.Gly447=)
c.521G>A
c.69G>A (p.Gly23=)
c.1431G>A (p.Gly477=)
c.1335G>A (p.Gly445=)
c.942G>A (p.Gly314=)
c.1338G>A (p.Gly446=)
c.369G>A (p.Gly123=)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414968C>ACA409646375KCNQ2c.1406G>T (p.Gly469Val)
c.1460G>T (p.Gly487Val)
c.857G>T (p.Gly286Val)
c.1370G>T (p.Gly457Val)
c.1028G>T (p.Gly343Val)
c.1376G>T (p.Gly459Val)
c.1340G>T (p.Gly447Val)
c.520G>T
c.68G>T (p.Gly23Val)
c.1430G>T (p.Gly477Val)
c.1334G>T (p.Gly445Val)
c.941G>T (p.Gly314Val)
c.1337G>T (p.Gly446Val)
c.368G>T (p.Gly123Val)
 COSMIC COSMIC COSMIC
20g.63414968C>GCA409646373KCNQ2c.1406G>C (p.Gly469Ala)
c.1460G>C (p.Gly487Ala)
c.857G>C (p.Gly286Ala)
c.1370G>C (p.Gly457Ala)
c.1028G>C (p.Gly343Ala)
c.1376G>C (p.Gly459Ala)
c.1340G>C (p.Gly447Ala)
c.520G>C
c.68G>C (p.Gly23Ala)
c.1430G>C (p.Gly477Ala)
c.1334G>C (p.Gly445Ala)
c.941G>C (p.Gly314Ala)
c.1337G>C (p.Gly446Ala)
c.368G>C (p.Gly123Ala)
20g.63414968C>TCA409646370KCNQ2c.1406G>A (p.Gly469Glu)
c.1460G>A (p.Gly487Glu)
c.857G>A (p.Gly286Glu)
c.1370G>A (p.Gly457Glu)
c.1028G>A (p.Gly343Glu)
c.1376G>A (p.Gly459Glu)
c.1340G>A (p.Gly447Glu)
c.520G>A
c.68G>A (p.Gly23Glu)
c.1430G>A (p.Gly477Glu)
c.1334G>A (p.Gly445Glu)
c.941G>A (p.Gly314Glu)
c.1337G>A (p.Gly446Glu)
c.368G>A (p.Gly123Glu)
20g.63414969C>ACA409646377KCNQ2c.1405G>T (p.Gly469Trp)
c.1459G>T (p.Gly487Trp)
c.856G>T (p.Gly286Trp)
c.1369G>T (p.Gly457Trp)
c.1027G>T (p.Gly343Trp)
c.1375G>T (p.Gly459Trp)
c.1339G>T (p.Gly447Trp)
c.519G>T
c.67G>T (p.Gly23Trp)
c.1429G>T (p.Gly477Trp)
c.1333G>T (p.Gly445Trp)
c.940G>T (p.Gly314Trp)
c.1336G>T (p.Gly446Trp)
c.367G>T (p.Gly123Trp)
20g.63414969C=CA2374778792KCNQ2c.1405G= (p.Gly469=)
c.1459G= (p.Gly487=)
c.856G= (p.Gly286=)
c.1369G= (p.Gly457=)
c.1027G= (p.Gly343=)
c.1375G= (p.Gly459=)
c.1339G= (p.Gly447=)
c.519G=
c.67G= (p.Gly23=)
c.1429G= (p.Gly477=)
c.1333G= (p.Gly445=)
c.940G= (p.Gly314=)
c.1336G= (p.Gly446=)
c.367G= (p.Gly123=)
20g.63414969C>GCA409646382KCNQ2c.1405G>C (p.Gly469Arg)
c.1459G>C (p.Gly487Arg)
c.856G>C (p.Gly286Arg)
c.1369G>C (p.Gly457Arg)
c.1027G>C (p.Gly343Arg)
c.1375G>C (p.Gly459Arg)
c.1339G>C (p.Gly447Arg)
c.519G>C
c.67G>C (p.Gly23Arg)
c.1429G>C (p.Gly477Arg)
c.1333G>C (p.Gly445Arg)
c.940G>C (p.Gly314Arg)
c.1336G>C (p.Gly446Arg)
c.367G>C (p.Gly123Arg)
 ClinVar dbSNP gnomAD v4
20g.63414969C>TCA9958457KCNQ2c.1405G>A (p.Gly469Arg)
c.1459G>A (p.Gly487Arg)
c.856G>A (p.Gly286Arg)
c.1369G>A (p.Gly457Arg)
c.1027G>A (p.Gly343Arg)
c.1375G>A (p.Gly459Arg)
c.1339G>A (p.Gly447Arg)
c.519G>A
c.67G>A (p.Gly23Arg)
c.1429G>A (p.Gly477Arg)
c.1333G>A (p.Gly445Arg)
c.940G>A (p.Gly314Arg)
c.1336G>A (p.Gly446Arg)
c.367G>A (p.Gly123Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414970G>ACA291797KCNQ2c.1404C>T (p.Phe468=)
c.1458C>T (p.Phe486=)
c.855C>T (p.Phe285=)
c.1368C>T (p.Phe456=)
c.1026C>T (p.Phe342=)
c.1374C>T (p.Phe458=)
c.1338C>T (p.Phe446=)
c.518C>T
c.66C>T (p.Phe22=)
c.1428C>T (p.Phe476=)
c.1332C>T (p.Phe444=)
c.939C>T (p.Phe313=)
c.1335C>T (p.Phe445=)
c.366C>T (p.Phe122=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414970G>CCA409646388KCNQ2c.1404C>G (p.Phe468Leu)
c.1458C>G (p.Phe486Leu)
c.855C>G (p.Phe285Leu)
c.1368C>G (p.Phe456Leu)
c.1026C>G (p.Phe342Leu)
c.1374C>G (p.Phe458Leu)
c.1338C>G (p.Phe446Leu)
c.518C>G
c.66C>G (p.Phe22Leu)
c.1428C>G (p.Phe476Leu)
c.1332C>G (p.Phe444Leu)
c.939C>G (p.Phe313Leu)
c.1335C>G (p.Phe445Leu)
c.366C>G (p.Phe122Leu)
20g.63414970G=CA2374778793KCNQ2c.1404C= (p.Phe468=)
c.1458C= (p.Phe486=)
c.855C= (p.Phe285=)
c.1368C= (p.Phe456=)
c.1026C= (p.Phe342=)
c.1374C= (p.Phe458=)
c.1338C= (p.Phe446=)
c.518C=
c.66C= (p.Phe22=)
c.1428C= (p.Phe476=)
c.1332C= (p.Phe444=)
c.939C= (p.Phe313=)
c.1335C= (p.Phe445=)
c.366C= (p.Phe122=)
20g.63414970G>TCA409646385KCNQ2c.1404C>A (p.Phe468Leu)
c.1458C>A (p.Phe486Leu)
c.855C>A (p.Phe285Leu)
c.1368C>A (p.Phe456Leu)
c.1026C>A (p.Phe342Leu)
c.1374C>A (p.Phe458Leu)
c.1338C>A (p.Phe446Leu)
c.518C>A
c.66C>A (p.Phe22Leu)
c.1428C>A (p.Phe476Leu)
c.1332C>A (p.Phe444Leu)
c.939C>A (p.Phe313Leu)
c.1335C>A (p.Phe445Leu)
c.366C>A (p.Phe122Leu)
20g.63414971A>CCA409646392KCNQ2c.1403T>G (p.Phe468Cys)
c.1457T>G (p.Phe486Cys)
c.854T>G (p.Phe285Cys)
c.1367T>G (p.Phe456Cys)
c.1025T>G (p.Phe342Cys)
c.1373T>G (p.Phe458Cys)
c.1337T>G (p.Phe446Cys)
c.517T>G
c.65T>G (p.Phe22Cys)
c.1427T>G (p.Phe476Cys)
c.1331T>G (p.Phe444Cys)
c.938T>G (p.Phe313Cys)
c.1334T>G (p.Phe445Cys)
c.365T>G (p.Phe122Cys)
20g.63414971A>GCA409646395KCNQ2c.1403T>C (p.Phe468Ser)
c.1457T>C (p.Phe486Ser)
c.854T>C (p.Phe285Ser)
c.1367T>C (p.Phe456Ser)
c.1025T>C (p.Phe342Ser)
c.1373T>C (p.Phe458Ser)
c.1337T>C (p.Phe446Ser)
c.517T>C
c.65T>C (p.Phe22Ser)
c.1427T>C (p.Phe476Ser)
c.1331T>C (p.Phe444Ser)
c.938T>C (p.Phe313Ser)
c.1334T>C (p.Phe445Ser)
c.365T>C (p.Phe122Ser)
20g.63414971A>TCA409646397KCNQ2c.1403T>A (p.Phe468Tyr)
c.1457T>A (p.Phe486Tyr)
c.854T>A (p.Phe285Tyr)
c.1367T>A (p.Phe456Tyr)
c.1025T>A (p.Phe342Tyr)
c.1373T>A (p.Phe458Tyr)
c.1337T>A (p.Phe446Tyr)
c.517T>A
c.65T>A (p.Phe22Tyr)
c.1427T>A (p.Phe476Tyr)
c.1331T>A (p.Phe444Tyr)
c.938T>A (p.Phe313Tyr)
c.1334T>A (p.Phe445Tyr)
c.365T>A (p.Phe122Tyr)
20g.63414972A>CCA409646401KCNQ2c.1402T>G (p.Phe468Val)
c.1456T>G (p.Phe486Val)
c.853T>G (p.Phe285Val)
c.1366T>G (p.Phe456Val)
c.1024T>G (p.Phe342Val)
c.1372T>G (p.Phe458Val)
c.1336T>G (p.Phe446Val)
c.516T>G
c.64T>G (p.Phe22Val)
c.1426T>G (p.Phe476Val)
c.1330T>G (p.Phe444Val)
c.937T>G (p.Phe313Val)
c.1333T>G (p.Phe445Val)
c.364T>G (p.Phe122Val)
20g.63414972A>GCA409646403KCNQ2c.1402T>C (p.Phe468Leu)
c.1456T>C (p.Phe486Leu)
c.853T>C (p.Phe285Leu)
c.1366T>C (p.Phe456Leu)
c.1024T>C (p.Phe342Leu)
c.1372T>C (p.Phe458Leu)
c.1336T>C (p.Phe446Leu)
c.516T>C
c.64T>C (p.Phe22Leu)
c.1426T>C (p.Phe476Leu)
c.1330T>C (p.Phe444Leu)
c.937T>C (p.Phe313Leu)
c.1333T>C (p.Phe445Leu)
c.364T>C (p.Phe122Leu)
20g.63414972A>TCA409646404KCNQ2c.1402T>A (p.Phe468Ile)
c.1456T>A (p.Phe486Ile)
c.853T>A (p.Phe285Ile)
c.1366T>A (p.Phe456Ile)
c.1024T>A (p.Phe342Ile)
c.1372T>A (p.Phe458Ile)
c.1336T>A (p.Phe446Ile)
c.516T>A
c.64T>A (p.Phe22Ile)
c.1426T>A (p.Phe476Ile)
c.1330T>A (p.Phe444Ile)
c.937T>A (p.Phe313Ile)
c.1333T>A (p.Phe445Ile)
c.364T>A (p.Phe122Ile)
20g.63414973G>ACA511339696KCNQ2c.1401C>T (p.Ser467=)
c.1455C>T (p.Ser485=)
c.852C>T (p.Ser284=)
c.1365C>T (p.Ser455=)
c.1023C>T (p.Ser341=)
c.1371C>T (p.Ser457=)
c.1335C>T (p.Ser445=)
c.515C>T
c.63C>T (p.Ser21=)
c.1425C>T (p.Ser475=)
c.1329C>T (p.Ser443=)
c.936C>T (p.Ser312=)
c.1332C>T (p.Ser444=)
c.363C>T (p.Ser121=)
20g.63414973G>CCA409646410KCNQ2c.1401C>G (p.Ser467Arg)
c.1455C>G (p.Ser485Arg)
c.852C>G (p.Ser284Arg)
c.1365C>G (p.Ser455Arg)
c.1023C>G (p.Ser341Arg)
c.1371C>G (p.Ser457Arg)
c.1335C>G (p.Ser445Arg)
c.515C>G
c.63C>G (p.Ser21Arg)
c.1425C>G (p.Ser475Arg)
c.1329C>G (p.Ser443Arg)
c.936C>G (p.Ser312Arg)
c.1332C>G (p.Ser444Arg)
c.363C>G (p.Ser121Arg)
20g.63414973G>TCA409646408KCNQ2c.1401C>A (p.Ser467Arg)
c.1455C>A (p.Ser485Arg)
c.852C>A (p.Ser284Arg)
c.1365C>A (p.Ser455Arg)
c.1023C>A (p.Ser341Arg)
c.1371C>A (p.Ser457Arg)
c.1335C>A (p.Ser445Arg)
c.515C>A
c.63C>A (p.Ser21Arg)
c.1425C>A (p.Ser475Arg)
c.1329C>A (p.Ser443Arg)
c.936C>A (p.Ser312Arg)
c.1332C>A (p.Ser444Arg)
c.363C>A (p.Ser121Arg)
20g.63414974C>ACA409646412KCNQ2c.1400G>T (p.Ser467Ile)
c.1454G>T (p.Ser485Ile)
c.851G>T (p.Ser284Ile)
c.1364G>T (p.Ser455Ile)
c.1022G>T (p.Ser341Ile)
c.1370G>T (p.Ser457Ile)
c.1334G>T (p.Ser445Ile)
c.514G>T
c.62G>T (p.Ser21Ile)
c.1424G>T (p.Ser475Ile)
c.1328G>T (p.Ser443Ile)
c.935G>T (p.Ser312Ile)
c.1331G>T (p.Ser444Ile)
c.362G>T (p.Ser121Ile)
20g.63414974C>GCA409646415KCNQ2c.1400G>C (p.Ser467Thr)
c.1454G>C (p.Ser485Thr)
c.851G>C (p.Ser284Thr)
c.1364G>C (p.Ser455Thr)
c.1022G>C (p.Ser341Thr)
c.1370G>C (p.Ser457Thr)
c.1334G>C (p.Ser445Thr)
c.514G>C
c.62G>C (p.Ser21Thr)
c.1424G>C (p.Ser475Thr)
c.1328G>C (p.Ser443Thr)
c.935G>C (p.Ser312Thr)
c.1331G>C (p.Ser444Thr)
c.362G>C (p.Ser121Thr)
20g.63414974C>TCA409646418KCNQ2c.1400G>A (p.Ser467Asn)
c.1454G>A (p.Ser485Asn)
c.851G>A (p.Ser284Asn)
c.1364G>A (p.Ser455Asn)
c.1022G>A (p.Ser341Asn)
c.1370G>A (p.Ser457Asn)
c.1334G>A (p.Ser445Asn)
c.514G>A
c.62G>A (p.Ser21Asn)
c.1424G>A (p.Ser475Asn)
c.1328G>A (p.Ser443Asn)
c.935G>A (p.Ser312Asn)
c.1331G>A (p.Ser444Asn)
c.362G>A (p.Ser121Asn)
20g.63414975T>ACA409646420KCNQ2c.1399A>T (p.Ser467Cys)
c.1453A>T (p.Ser485Cys)
c.850A>T (p.Ser284Cys)
c.1363A>T (p.Ser455Cys)
c.1021A>T (p.Ser341Cys)
c.1369A>T (p.Ser457Cys)
c.1333A>T (p.Ser445Cys)
c.513A>T
c.61A>T (p.Ser21Cys)
c.1423A>T (p.Ser475Cys)
c.1327A>T (p.Ser443Cys)
c.934A>T (p.Ser312Cys)
c.1330A>T (p.Ser444Cys)
c.361A>T (p.Ser121Cys)
20g.63414975T>CCA409646422KCNQ2c.1399A>G (p.Ser467Gly)
c.1453A>G (p.Ser485Gly)
c.850A>G (p.Ser284Gly)
c.1363A>G (p.Ser455Gly)
c.1021A>G (p.Ser341Gly)
c.1369A>G (p.Ser457Gly)
c.1333A>G (p.Ser445Gly)
c.513A>G
c.61A>G (p.Ser21Gly)
c.1423A>G (p.Ser475Gly)
c.1327A>G (p.Ser443Gly)
c.934A>G (p.Ser312Gly)
c.1330A>G (p.Ser444Gly)
c.361A>G (p.Ser121Gly)
20g.63414975T>GCA409646426KCNQ2c.1399A>C (p.Ser467Arg)
c.1453A>C (p.Ser485Arg)
c.850A>C (p.Ser284Arg)
c.1363A>C (p.Ser455Arg)
c.1021A>C (p.Ser341Arg)
c.1369A>C (p.Ser457Arg)
c.1333A>C (p.Ser445Arg)
c.513A>C
c.61A>C (p.Ser21Arg)
c.1423A>C (p.Ser475Arg)
c.1327A>C (p.Ser443Arg)
c.934A>C (p.Ser312Arg)
c.1330A>C (p.Ser444Arg)
c.361A>C (p.Ser121Arg)
20g.63414975T=CA2374778794KCNQ2c.1399A= (p.Ser467=)
c.1453A= (p.Ser485=)
c.850A= (p.Ser284=)
c.1363A= (p.Ser455=)
c.1021A= (p.Ser341=)
c.1369A= (p.Ser457=)
c.1333A= (p.Ser445=)
c.513A=
c.61A= (p.Ser21=)
c.1423A= (p.Ser475=)
c.1327A= (p.Ser443=)
c.934A= (p.Ser312=)
c.1330A= (p.Ser444=)
c.361A= (p.Ser121=)
20g.63414976C>ACA409646429KCNQ2c.1398G>T (p.Trp466Cys)
c.1452G>T (p.Trp484Cys)
c.849G>T (p.Trp283Cys)
c.1362G>T (p.Trp454Cys)
c.1020G>T (p.Trp340Cys)
c.1368G>T (p.Trp456Cys)
c.1332G>T (p.Trp444Cys)
c.512G>T
c.60G>T (p.Trp20Cys)
c.1422G>T (p.Trp474Cys)
c.1326G>T (p.Trp442Cys)
c.933G>T (p.Trp311Cys)
c.1329G>T (p.Trp443Cys)
c.360G>T (p.Trp120Cys)
20g.63414976C=CA2374778795KCNQ2c.1398G= (p.Trp466=)
c.1452G= (p.Trp484=)
c.849G= (p.Trp283=)
c.1362G= (p.Trp454=)
c.1020G= (p.Trp340=)
c.1368G= (p.Trp456=)
c.1332G= (p.Trp444=)
c.512G=
c.60G= (p.Trp20=)
c.1422G= (p.Trp474=)
c.1326G= (p.Trp442=)
c.933G= (p.Trp311=)
c.1329G= (p.Trp443=)
c.360G= (p.Trp120=)
20g.63414976C>GCA409646434KCNQ2c.1398G>C (p.Trp466Cys)
c.1452G>C (p.Trp484Cys)
c.849G>C (p.Trp283Cys)
c.1362G>C (p.Trp454Cys)
c.1020G>C (p.Trp340Cys)
c.1368G>C (p.Trp456Cys)
c.1332G>C (p.Trp444Cys)
c.512G>C
c.60G>C (p.Trp20Cys)
c.1422G>C (p.Trp474Cys)
c.1326G>C (p.Trp442Cys)
c.933G>C (p.Trp311Cys)
c.1329G>C (p.Trp443Cys)
c.360G>C (p.Trp120Cys)
20g.63414976C>TCA409646431KCNQ2c.1398G>A (p.Trp466Ter)
c.1452G>A (p.Trp484Ter)
c.849G>A (p.Trp283Ter)
c.1362G>A (p.Trp454Ter)
c.1020G>A (p.Trp340Ter)
c.1368G>A (p.Trp456Ter)
c.1332G>A (p.Trp444Ter)
c.512G>A
c.60G>A (p.Trp20Ter)
c.1422G>A (p.Trp474Ter)
c.1326G>A (p.Trp442Ter)
c.933G>A (p.Trp311Ter)
c.1329G>A (p.Trp443Ter)
c.360G>A (p.Trp120Ter)
 ClinVar dbSNP
20g.63414977dupCA1139666779KCNQ2c.1398dup (p.Ser467GlufsTer?)
c.1452dup (p.Ser485GlufsTer?)
c.849dup (p.Ser284GlufsTer?)
c.1362dup (p.Ser455GlufsTer?)
c.1020dup (p.Ser341GlufsTer?)
c.1368dup (p.Ser457GlufsTer?)
c.1332dup (p.Ser445GlufsTer?)
c.512dup
c.60dup (p.Ser21GlufsTer?)
c.1422dup (p.Ser475GlufsTer?)
c.1326dup (p.Ser443GlufsTer?)
c.933dup (p.Ser312GlufsTer?)
c.1329dup (p.Ser444GlufsTer?)
c.360dup (p.Ser121GlufsTer?)
 ClinVar dbSNP
20g.63414977C>ACA409646438KCNQ2c.1397G>T (p.Trp466Leu)
c.1451G>T (p.Trp484Leu)
c.848G>T (p.Trp283Leu)
c.1361G>T (p.Trp454Leu)
c.1019G>T (p.Trp340Leu)
c.1367G>T (p.Trp456Leu)
c.1331G>T (p.Trp444Leu)
c.511G>T
c.59G>T (p.Trp20Leu)
c.1421G>T (p.Trp474Leu)
c.1325G>T (p.Trp442Leu)
c.932G>T (p.Trp311Leu)
c.1328G>T (p.Trp443Leu)
c.359G>T (p.Trp120Leu)
20g.63414977C>GCA409646440KCNQ2c.1397G>C (p.Trp466Ser)
c.1451G>C (p.Trp484Ser)
c.848G>C (p.Trp283Ser)
c.1361G>C (p.Trp454Ser)
c.1019G>C (p.Trp340Ser)
c.1367G>C (p.Trp456Ser)
c.1331G>C (p.Trp444Ser)
c.511G>C
c.59G>C (p.Trp20Ser)
c.1421G>C (p.Trp474Ser)
c.1325G>C (p.Trp442Ser)
c.932G>C (p.Trp311Ser)
c.1328G>C (p.Trp443Ser)
c.359G>C (p.Trp120Ser)
20g.63414977C>TCA409646442KCNQ2c.1397G>A (p.Trp466Ter)
c.1451G>A (p.Trp484Ter)
c.848G>A (p.Trp283Ter)
c.1361G>A (p.Trp454Ter)
c.1019G>A (p.Trp340Ter)
c.1367G>A (p.Trp456Ter)
c.1331G>A (p.Trp444Ter)
c.511G>A
c.59G>A (p.Trp20Ter)
c.1421G>A (p.Trp474Ter)
c.1325G>A (p.Trp442Ter)
c.932G>A (p.Trp311Ter)
c.1328G>A (p.Trp443Ter)
c.359G>A (p.Trp120Ter)
20g.63414978A>CCA409646444KCNQ2c.1396T>G (p.Trp466Gly)
c.1450T>G (p.Trp484Gly)
c.847T>G (p.Trp283Gly)
c.1360T>G (p.Trp454Gly)
c.1018T>G (p.Trp340Gly)
c.1366T>G (p.Trp456Gly)
c.1330T>G (p.Trp444Gly)
c.510T>G
c.58T>G (p.Trp20Gly)
c.1420T>G (p.Trp474Gly)
c.1324T>G (p.Trp442Gly)
c.931T>G (p.Trp311Gly)
c.1327T>G (p.Trp443Gly)
c.358T>G (p.Trp120Gly)
20g.63414978A>GCA409646447KCNQ2c.1396T>C (p.Trp466Arg)
c.1450T>C (p.Trp484Arg)
c.847T>C (p.Trp283Arg)
c.1360T>C (p.Trp454Arg)
c.1018T>C (p.Trp340Arg)
c.1366T>C (p.Trp456Arg)
c.1330T>C (p.Trp444Arg)
c.510T>C
c.58T>C (p.Trp20Arg)
c.1420T>C (p.Trp474Arg)
c.1324T>C (p.Trp442Arg)
c.931T>C (p.Trp311Arg)
c.1327T>C (p.Trp443Arg)
c.358T>C (p.Trp120Arg)
20g.63414978A>TCA409646450KCNQ2c.1396T>A (p.Trp466Arg)
c.1450T>A (p.Trp484Arg)
c.847T>A (p.Trp283Arg)
c.1360T>A (p.Trp454Arg)
c.1018T>A (p.Trp340Arg)
c.1366T>A (p.Trp456Arg)
c.1330T>A (p.Trp444Arg)
c.510T>A
c.58T>A (p.Trp20Arg)
c.1420T>A (p.Trp474Arg)
c.1324T>A (p.Trp442Arg)
c.931T>A (p.Trp311Arg)
c.1327T>A (p.Trp443Arg)
c.358T>A (p.Trp120Arg)
20g.63414979G>ACA511339702KCNQ2c.1395C>T (p.Ser465=)
c.1449C>T (p.Ser483=)
c.846C>T (p.Ser282=)
c.1359C>T (p.Ser453=)
c.1017C>T (p.Ser339=)
c.1365C>T (p.Ser455=)
c.1329C>T (p.Ser443=)
c.509C>T
c.57C>T (p.Ser19=)
c.1419C>T (p.Ser473=)
c.1323C>T (p.Ser441=)
c.930C>T (p.Ser310=)
c.1326C>T (p.Ser442=)
c.357C>T (p.Ser119=)
 COSMIC
20g.63414979G>CCA409646451KCNQ2c.1395C>G (p.Ser465Arg)
c.1449C>G (p.Ser483Arg)
c.846C>G (p.Ser282Arg)
c.1359C>G (p.Ser453Arg)
c.1017C>G (p.Ser339Arg)
c.1365C>G (p.Ser455Arg)
c.1329C>G (p.Ser443Arg)
c.509C>G
c.57C>G (p.Ser19Arg)
c.1419C>G (p.Ser473Arg)
c.1323C>G (p.Ser441Arg)
c.930C>G (p.Ser310Arg)
c.1326C>G (p.Ser442Arg)
c.357C>G (p.Ser119Arg)
20g.63414979G=CA2374778796KCNQ2c.1395C= (p.Ser465=)
c.1449C= (p.Ser483=)
c.846C= (p.Ser282=)
c.1359C= (p.Ser453=)
c.1017C= (p.Ser339=)
c.1365C= (p.Ser455=)
c.1329C= (p.Ser443=)
c.509C=
c.57C= (p.Ser19=)
c.1419C= (p.Ser473=)
c.1323C= (p.Ser441=)
c.930C= (p.Ser310=)
c.1326C= (p.Ser442=)
c.357C= (p.Ser119=)
20g.63414979G>TCA317431032KCNQ2c.1395C>A (p.Ser465Arg)
c.1449C>A (p.Ser483Arg)
c.846C>A (p.Ser282Arg)
c.1359C>A (p.Ser453Arg)
c.1017C>A (p.Ser339Arg)
c.1365C>A (p.Ser455Arg)
c.1329C>A (p.Ser443Arg)
c.509C>A
c.57C>A (p.Ser19Arg)
c.1419C>A (p.Ser473Arg)
c.1323C>A (p.Ser441Arg)
c.930C>A (p.Ser310Arg)
c.1326C>A (p.Ser442Arg)
c.357C>A (p.Ser119Arg)
 dbSNP
20g.63414980C>ACA409646457KCNQ2c.1394G>T (p.Ser465Ile)
c.1448G>T (p.Ser483Ile)
c.845G>T (p.Ser282Ile)
c.1358G>T (p.Ser453Ile)
c.1016G>T (p.Ser339Ile)
c.1364G>T (p.Ser455Ile)
c.1328G>T (p.Ser443Ile)
c.508G>T
c.56G>T (p.Ser19Ile)
c.1418G>T (p.Ser473Ile)
c.1322G>T (p.Ser441Ile)
c.929G>T (p.Ser310Ile)
c.1325G>T (p.Ser442Ile)
c.356G>T (p.Ser119Ile)
20g.63414980C>GCA409646459KCNQ2c.1394G>C (p.Ser465Thr)
c.1448G>C (p.Ser483Thr)
c.845G>C (p.Ser282Thr)
c.1358G>C (p.Ser453Thr)
c.1016G>C (p.Ser339Thr)
c.1364G>C (p.Ser455Thr)
c.1328G>C (p.Ser443Thr)
c.508G>C
c.56G>C (p.Ser19Thr)
c.1418G>C (p.Ser473Thr)
c.1322G>C (p.Ser441Thr)
c.929G>C (p.Ser310Thr)
c.1325G>C (p.Ser442Thr)
c.356G>C (p.Ser119Thr)
 gnomAD v4
20g.63414980C>TCA409646461KCNQ2c.1394G>A (p.Ser465Asn)
c.1448G>A (p.Ser483Asn)
c.845G>A (p.Ser282Asn)
c.1358G>A (p.Ser453Asn)
c.1016G>A (p.Ser339Asn)
c.1364G>A (p.Ser455Asn)
c.1328G>A (p.Ser443Asn)
c.508G>A
c.56G>A (p.Ser19Asn)
c.1418G>A (p.Ser473Asn)
c.1322G>A (p.Ser441Asn)
c.929G>A (p.Ser310Asn)
c.1325G>A (p.Ser442Asn)
c.356G>A (p.Ser119Asn)
 COSMIC COSMIC COSMIC
20g.63414981T>ACA409646463KCNQ2c.1393A>T (p.Ser465Cys)
c.1447A>T (p.Ser483Cys)
c.844A>T (p.Ser282Cys)
c.1357A>T (p.Ser453Cys)
c.1015A>T (p.Ser339Cys)
c.1363A>T (p.Ser455Cys)
c.1327A>T (p.Ser443Cys)
c.507A>T
c.55A>T (p.Ser19Cys)
c.1417A>T (p.Ser473Cys)
c.1321A>T (p.Ser441Cys)
c.928A>T (p.Ser310Cys)
c.1324A>T (p.Ser442Cys)
c.355A>T (p.Ser119Cys)
20g.63414981T>CCA409646468KCNQ2c.1393A>G (p.Ser465Gly)
c.1447A>G (p.Ser483Gly)
c.844A>G (p.Ser282Gly)
c.1357A>G (p.Ser453Gly)
c.1015A>G (p.Ser339Gly)
c.1363A>G (p.Ser455Gly)
c.1327A>G (p.Ser443Gly)
c.507A>G
c.55A>G (p.Ser19Gly)
c.1417A>G (p.Ser473Gly)
c.1321A>G (p.Ser441Gly)
c.928A>G (p.Ser310Gly)
c.1324A>G (p.Ser442Gly)
c.355A>G (p.Ser119Gly)
20g.63414981T>GCA409646466KCNQ2c.1393A>C (p.Ser465Arg)
c.1447A>C (p.Ser483Arg)
c.844A>C (p.Ser282Arg)
c.1357A>C (p.Ser453Arg)
c.1015A>C (p.Ser339Arg)
c.1363A>C (p.Ser455Arg)
c.1327A>C (p.Ser443Arg)
c.507A>C
c.55A>C (p.Ser19Arg)
c.1417A>C (p.Ser473Arg)
c.1321A>C (p.Ser441Arg)
c.928A>C (p.Ser310Arg)
c.1324A>C (p.Ser442Arg)
c.355A>C (p.Ser119Arg)
20g.63414982C>ACA409646470KCNQ2c.1392G>T (p.Lys464Asn)
c.1446G>T (p.Lys482Asn)
c.843G>T (p.Lys281Asn)
c.1356G>T (p.Lys452Asn)
c.1014G>T (p.Lys338Asn)
c.1362G>T (p.Lys454Asn)
c.1326G>T (p.Lys442Asn)
c.506G>T
c.54G>T (p.Lys18Asn)
c.1416G>T (p.Lys472Asn)
c.1320G>T (p.Lys440Asn)
c.927G>T (p.Lys309Asn)
c.1323G>T (p.Lys441Asn)
c.354G>T (p.Lys118Asn)
20g.63414982C=CA2374778797KCNQ2c.1392G= (p.Lys464=)
c.1446G= (p.Lys482=)
c.843G= (p.Lys281=)
c.1356G= (p.Lys452=)
c.1014G= (p.Lys338=)
c.1362G= (p.Lys454=)
c.1326G= (p.Lys442=)
c.506G=
c.54G= (p.Lys18=)
c.1416G= (p.Lys472=)
c.1320G= (p.Lys440=)
c.927G= (p.Lys309=)
c.1323G= (p.Lys441=)
c.354G= (p.Lys118=)
20g.63414982C>GCA409646473KCNQ2c.1392G>C (p.Lys464Asn)
c.1446G>C (p.Lys482Asn)
c.843G>C (p.Lys281Asn)
c.1356G>C (p.Lys452Asn)
c.1014G>C (p.Lys338Asn)
c.1362G>C (p.Lys454Asn)
c.1326G>C (p.Lys442Asn)
c.506G>C
c.54G>C (p.Lys18Asn)
c.1416G>C (p.Lys472Asn)
c.1320G>C (p.Lys440Asn)
c.927G>C (p.Lys309Asn)
c.1323G>C (p.Lys441Asn)
c.354G>C (p.Lys118Asn)
20g.63414982C>TCA511339703KCNQ2c.1392G>A (p.Lys464=)
c.1446G>A (p.Lys482=)
c.843G>A (p.Lys281=)
c.1356G>A (p.Lys452=)
c.1014G>A (p.Lys338=)
c.1362G>A (p.Lys454=)
c.1326G>A (p.Lys442=)
c.506G>A
c.54G>A (p.Lys18=)
c.1416G>A (p.Lys472=)
c.1320G>A (p.Lys440=)
c.927G>A (p.Lys309=)
c.1323G>A (p.Lys441=)
c.354G>A (p.Lys118=)
 ClinVar dbSNP gnomAD v2
20g.63414983T>ACA409646477KCNQ2c.1391A>T (p.Lys464Met)
c.1445A>T (p.Lys482Met)
c.842A>T (p.Lys281Met)
c.1355A>T (p.Lys452Met)
c.1013A>T (p.Lys338Met)
c.1361A>T (p.Lys454Met)
c.1325A>T (p.Lys442Met)
c.505A>T
c.53A>T (p.Lys18Met)
c.1415A>T (p.Lys472Met)
c.1319A>T (p.Lys440Met)
c.926A>T (p.Lys309Met)
c.1322A>T (p.Lys441Met)
c.353A>T (p.Lys118Met)
20g.63414983T>CCA409646479KCNQ2c.1391A>G (p.Lys464Arg)
c.1445A>G (p.Lys482Arg)
c.842A>G (p.Lys281Arg)
c.1355A>G (p.Lys452Arg)
c.1013A>G (p.Lys338Arg)
c.1361A>G (p.Lys454Arg)
c.1325A>G (p.Lys442Arg)
c.505A>G
c.53A>G (p.Lys18Arg)
c.1415A>G (p.Lys472Arg)
c.1319A>G (p.Lys440Arg)
c.926A>G (p.Lys309Arg)
c.1322A>G (p.Lys441Arg)
c.353A>G (p.Lys118Arg)
 ClinVar
20g.63414983T>GCA409646482KCNQ2c.1391A>C (p.Lys464Thr)
c.1445A>C (p.Lys482Thr)
c.842A>C (p.Lys281Thr)
c.1355A>C (p.Lys452Thr)
c.1013A>C (p.Lys338Thr)
c.1361A>C (p.Lys454Thr)
c.1325A>C (p.Lys442Thr)
c.505A>C
c.53A>C (p.Lys18Thr)
c.1415A>C (p.Lys472Thr)
c.1319A>C (p.Lys440Thr)
c.926A>C (p.Lys309Thr)
c.1322A>C (p.Lys441Thr)
c.353A>C (p.Lys118Thr)
20g.63414984T>ACA409646486KCNQ2c.1390A>T (p.Lys464Ter)
c.1444A>T (p.Lys482Ter)
c.841A>T (p.Lys281Ter)
c.1354A>T (p.Lys452Ter)
c.1012A>T (p.Lys338Ter)
c.1360A>T (p.Lys454Ter)
c.1324A>T (p.Lys442Ter)
c.504A>T
c.52A>T (p.Lys18Ter)
c.1414A>T (p.Lys472Ter)
c.1318A>T (p.Lys440Ter)
c.925A>T (p.Lys309Ter)
c.1321A>T (p.Lys441Ter)
c.352A>T (p.Lys118Ter)
 ClinVar dbSNP
20g.63414984T>CCA409646488KCNQ2c.1390A>G (p.Lys464Glu)
c.1444A>G (p.Lys482Glu)
c.841A>G (p.Lys281Glu)
c.1354A>G (p.Lys452Glu)
c.1012A>G (p.Lys338Glu)
c.1360A>G (p.Lys454Glu)
c.1324A>G (p.Lys442Glu)
c.504A>G
c.52A>G (p.Lys18Glu)
c.1414A>G (p.Lys472Glu)
c.1318A>G (p.Lys440Glu)
c.925A>G (p.Lys309Glu)
c.1321A>G (p.Lys441Glu)
c.352A>G (p.Lys118Glu)
20g.63414984T>GCA409646491KCNQ2c.1390A>C (p.Lys464Gln)
c.1444A>C (p.Lys482Gln)
c.841A>C (p.Lys281Gln)
c.1354A>C (p.Lys452Gln)
c.1012A>C (p.Lys338Gln)
c.1360A>C (p.Lys454Gln)
c.1324A>C (p.Lys442Gln)
c.504A>C
c.52A>C (p.Lys18Gln)
c.1414A>C (p.Lys472Gln)
c.1318A>C (p.Lys440Gln)
c.925A>C (p.Lys309Gln)
c.1321A>C (p.Lys441Gln)
c.352A>C (p.Lys118Gln)
 COSMIC COSMIC COSMIC
20g.63414984T=CA2374778798KCNQ2c.1390A= (p.Lys464=)
c.1444A= (p.Lys482=)
c.841A= (p.Lys281=)
c.1354A= (p.Lys452=)
c.1012A= (p.Lys338=)
c.1360A= (p.Lys454=)
c.1324A= (p.Lys442=)
c.504A=
c.52A= (p.Lys18=)
c.1414A= (p.Lys472=)
c.1318A= (p.Lys440=)
c.925A= (p.Lys309=)
c.1321A= (p.Lys441=)
c.352A= (p.Lys118=)
20g.63414985G>ACA511339704KCNQ2c.1389C>T (p.Pro463=)
c.1443C>T (p.Pro481=)
c.840C>T (p.Pro280=)
c.1353C>T (p.Pro451=)
c.1011C>T (p.Pro337=)
c.1359C>T (p.Pro453=)
c.1323C>T (p.Pro441=)
c.503C>T
c.51C>T (p.Pro17=)
c.1413C>T (p.Pro471=)
c.1317C>T (p.Pro439=)
c.924C>T (p.Pro308=)
c.1320C>T (p.Pro440=)
c.351C>T (p.Pro117=)
 gnomAD v4
20g.63414985G>CCA511339705KCNQ2c.1389C>G (p.Pro463=)
c.1443C>G (p.Pro481=)
c.840C>G (p.Pro280=)
c.1353C>G (p.Pro451=)
c.1011C>G (p.Pro337=)
c.1359C>G (p.Pro453=)
c.1323C>G (p.Pro441=)
c.503C>G
c.51C>G (p.Pro17=)
c.1413C>G (p.Pro471=)
c.1317C>G (p.Pro439=)
c.924C>G (p.Pro308=)
c.1320C>G (p.Pro440=)
c.351C>G (p.Pro117=)
 dbSNP
20g.63414985G=CA2374778799KCNQ2c.1389C= (p.Pro463=)
c.1443C= (p.Pro481=)
c.840C= (p.Pro280=)
c.1353C= (p.Pro451=)
c.1011C= (p.Pro337=)
c.1359C= (p.Pro453=)
c.1323C= (p.Pro441=)
c.503C=
c.51C= (p.Pro17=)
c.1413C= (p.Pro471=)
c.1317C= (p.Pro439=)
c.924C= (p.Pro308=)
c.1320C= (p.Pro440=)
c.351C= (p.Pro117=)
20g.63414985G>TCA511339706KCNQ2c.1389C>A (p.Pro463=)
c.1443C>A (p.Pro481=)
c.840C>A (p.Pro280=)
c.1353C>A (p.Pro451=)
c.1011C>A (p.Pro337=)
c.1359C>A (p.Pro453=)
c.1323C>A (p.Pro441=)
c.503C>A
c.51C>A (p.Pro17=)
c.1413C>A (p.Pro471=)
c.1317C>A (p.Pro439=)
c.924C>A (p.Pro308=)
c.1320C>A (p.Pro440=)
c.351C>A (p.Pro117=)
20g.63414987delCA2653800582KCNQ2c.1389del (p.Lys464ArgfsTer?)
c.1443del (p.Lys482ArgfsTer?)
c.840del (p.Lys281ArgfsTer?)
c.1353del (p.Lys452ArgfsTer?)
c.1011del (p.Lys338ArgfsTer?)
c.1359del (p.Lys454ArgfsTer?)
c.1323del (p.Lys442ArgfsTer?)
c.503del
c.51del (p.Lys18ArgfsTer?)
c.1413del (p.Lys472ArgfsTer?)
c.1317del (p.Lys440ArgfsTer?)
c.924del (p.Lys309ArgfsTer?)
c.1320del (p.Lys441ArgfsTer?)
c.351del (p.Lys118ArgfsTer?)
 gnomAD v4
20g.63414986G>ACA409646495KCNQ2c.1388C>T (p.Pro463Leu)
c.1442C>T (p.Pro481Leu)
c.839C>T (p.Pro280Leu)
c.1352C>T (p.Pro451Leu)
c.1010C>T (p.Pro337Leu)
c.1358C>T (p.Pro453Leu)
c.1322C>T (p.Pro441Leu)
c.502C>T
c.50C>T (p.Pro17Leu)
c.1412C>T (p.Pro471Leu)
c.1316C>T (p.Pro439Leu)
c.923C>T (p.Pro308Leu)
c.1319C>T (p.Pro440Leu)
c.350C>T (p.Pro117Leu)
 gnomAD v4
20g.63414986G>CCA409646497KCNQ2c.1388C>G (p.Pro463Arg)
c.1442C>G (p.Pro481Arg)
c.839C>G (p.Pro280Arg)
c.1352C>G (p.Pro451Arg)
c.1010C>G (p.Pro337Arg)
c.1358C>G (p.Pro453Arg)
c.1322C>G (p.Pro441Arg)
c.502C>G
c.50C>G (p.Pro17Arg)
c.1412C>G (p.Pro471Arg)
c.1316C>G (p.Pro439Arg)
c.923C>G (p.Pro308Arg)
c.1319C>G (p.Pro440Arg)
c.350C>G (p.Pro117Arg)
20g.63414986G>TCA409646500KCNQ2c.1388C>A (p.Pro463His)
c.1442C>A (p.Pro481His)
c.839C>A (p.Pro280His)
c.1352C>A (p.Pro451His)
c.1010C>A (p.Pro337His)
c.1358C>A (p.Pro453His)
c.1322C>A (p.Pro441His)
c.502C>A
c.50C>A (p.Pro17His)
c.1412C>A (p.Pro471His)
c.1316C>A (p.Pro439His)
c.923C>A (p.Pro308His)
c.1319C>A (p.Pro440His)
c.350C>A (p.Pro117His)
20g.63414986_63414987insTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACCA2816991476KCNQ2c.1387_1388insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro463ArgfsTer?)
c.1441_1442insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro481ArgfsTer?)
c.838_839insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro280ArgfsTer?)
c.1351_1352insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro451ArgfsTer?)
c.1009_1010insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro337ArgfsTer?)
c.1357_1358insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro453ArgfsTer?)
c.1321_1322insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro441ArgfsTer?)
c.501_502insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA
c.49_50insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro17ArgfsTer?)
c.1411_1412insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro471ArgfsTer?)
c.1315_1316insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro439ArgfsTer?)
c.922_923insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro308ArgfsTer?)
c.1318_1319insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro440ArgfsTer?)
c.349_350insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro117ArgfsTer?)
20g.63414987G>ACA409646507KCNQ2c.1387C>T (p.Pro463Ser)
c.1441C>T (p.Pro481Ser)
c.838C>T (p.Pro280Ser)
c.1351C>T (p.Pro451Ser)
c.1009C>T (p.Pro337Ser)
c.1357C>T (p.Pro453Ser)
c.1321C>T (p.Pro441Ser)
c.501C>T
c.49C>T (p.Pro17Ser)
c.1411C>T (p.Pro471Ser)
c.1315C>T (p.Pro439Ser)
c.922C>T (p.Pro308Ser)
c.1318C>T (p.Pro440Ser)
c.349C>T (p.Pro117Ser)
 dbSNP gnomAD v4
20g.63414987G>CCA409646502KCNQ2c.1387C>G (p.Pro463Ala)
c.1441C>G (p.Pro481Ala)
c.838C>G (p.Pro280Ala)
c.1351C>G (p.Pro451Ala)
c.1009C>G (p.Pro337Ala)
c.1357C>G (p.Pro453Ala)
c.1321C>G (p.Pro441Ala)
c.501C>G
c.49C>G (p.Pro17Ala)
c.1411C>G (p.Pro471Ala)
c.1315C>G (p.Pro439Ala)
c.922C>G (p.Pro308Ala)
c.1318C>G (p.Pro440Ala)
c.349C>G (p.Pro117Ala)
20g.63414987G>TCA409646505KCNQ2c.1387C>A (p.Pro463Thr)
c.1441C>A (p.Pro481Thr)
c.838C>A (p.Pro280Thr)
c.1351C>A (p.Pro451Thr)
c.1009C>A (p.Pro337Thr)
c.1357C>A (p.Pro453Thr)
c.1321C>A (p.Pro441Thr)
c.501C>A
c.49C>A (p.Pro17Thr)
c.1411C>A (p.Pro471Thr)
c.1315C>A (p.Pro439Thr)
c.922C>A (p.Pro308Thr)
c.1318C>A (p.Pro440Thr)
c.349C>A (p.Pro117Thr)
20g.63414988C>ACA511339707KCNQ2c.1386G>T (p.Val462=)
c.1440G>T (p.Val480=)
c.837G>T (p.Val279=)
c.1350G>T (p.Val450=)
c.1008G>T (p.Val336=)
c.1356G>T (p.Val452=)
c.1320G>T (p.Val440=)
c.500G>T
c.48G>T (p.Val16=)
c.1410G>T (p.Val470=)
c.1314G>T (p.Val438=)
c.921G>T (p.Val307=)
c.1317G>T (p.Val439=)
c.348G>T (p.Val116=)
20g.63414988C=CA2374778800KCNQ2c.1386G= (p.Val462=)
c.1440G= (p.Val480=)
c.837G= (p.Val279=)
c.1350G= (p.Val450=)
c.1008G= (p.Val336=)
c.1356G= (p.Val452=)
c.1320G= (p.Val440=)
c.500G=
c.48G= (p.Val16=)
c.1410G= (p.Val470=)
c.1314G= (p.Val438=)
c.921G= (p.Val307=)
c.1317G= (p.Val439=)
c.348G= (p.Val116=)
20g.63414988C>GCA511339709KCNQ2c.1386G>C (p.Val462=)
c.1440G>C (p.Val480=)
c.837G>C (p.Val279=)
c.1350G>C (p.Val450=)
c.1008G>C (p.Val336=)
c.1356G>C (p.Val452=)
c.1320G>C (p.Val440=)
c.500G>C
c.48G>C (p.Val16=)
c.1410G>C (p.Val470=)
c.1314G>C (p.Val438=)
c.921G>C (p.Val307=)
c.1317G>C (p.Val439=)
c.348G>C (p.Val116=)
20g.63414988C>TCA511339708KCNQ2c.1386G>A (p.Val462=)
c.1440G>A (p.Val480=)
c.837G>A (p.Val279=)
c.1350G>A (p.Val450=)
c.1008G>A (p.Val336=)
c.1356G>A (p.Val452=)
c.1320G>A (p.Val440=)
c.500G>A
c.48G>A (p.Val16=)
c.1410G>A (p.Val470=)
c.1314G>A (p.Val438=)
c.921G>A (p.Val307=)
c.1317G>A (p.Val439=)
c.348G>A (p.Val116=)
 dbSNP gnomAD v2 gnomAD v4
20g.63414989A>CCA409646510KCNQ2c.1385T>G (p.Val462Gly)
c.1439T>G (p.Val480Gly)
c.836T>G (p.Val279Gly)
c.1349T>G (p.Val450Gly)
c.1007T>G (p.Val336Gly)
c.1355T>G (p.Val452Gly)
c.1319T>G (p.Val440Gly)
c.499T>G
c.47T>G (p.Val16Gly)
c.1409T>G (p.Val470Gly)
c.1313T>G (p.Val438Gly)
c.920T>G (p.Val307Gly)
c.1316T>G (p.Val439Gly)
c.347T>G (p.Val116Gly)
20g.63414989A>GCA409646512KCNQ2c.1385T>C (p.Val462Ala)
c.1439T>C (p.Val480Ala)
c.836T>C (p.Val279Ala)
c.1349T>C (p.Val450Ala)
c.1007T>C (p.Val336Ala)
c.1355T>C (p.Val452Ala)
c.1319T>C (p.Val440Ala)
c.499T>C
c.47T>C (p.Val16Ala)
c.1409T>C (p.Val470Ala)
c.1313T>C (p.Val438Ala)
c.920T>C (p.Val307Ala)
c.1316T>C (p.Val439Ala)
c.347T>C (p.Val116Ala)
 COSMIC COSMIC COSMIC
20g.63414989A>TCA409646515KCNQ2c.1385T>A (p.Val462Glu)
c.1439T>A (p.Val480Glu)
c.836T>A (p.Val279Glu)
c.1349T>A (p.Val450Glu)
c.1007T>A (p.Val336Glu)
c.1355T>A (p.Val452Glu)
c.1319T>A (p.Val440Glu)
c.499T>A
c.47T>A (p.Val16Glu)
c.1409T>A (p.Val470Glu)
c.1313T>A (p.Val438Glu)
c.920T>A (p.Val307Glu)
c.1316T>A (p.Val439Glu)
c.347T>A (p.Val116Glu)
20g.63414990C>ACA409646519KCNQ2c.1384G>T (p.Val462Leu)
c.1438G>T (p.Val480Leu)
c.835G>T (p.Val279Leu)
c.1348G>T (p.Val450Leu)
c.1006G>T (p.Val336Leu)
c.1354G>T (p.Val452Leu)
c.1318G>T (p.Val440Leu)
c.498G>T
c.46G>T (p.Val16Leu)
c.1408G>T (p.Val470Leu)
c.1312G>T (p.Val438Leu)
c.919G>T (p.Val307Leu)
c.1315G>T (p.Val439Leu)
c.346G>T (p.Val116Leu)
20g.63414990C>GCA409646522KCNQ2c.1384G>C (p.Val462Leu)
c.1438G>C (p.Val480Leu)
c.835G>C (p.Val279Leu)
c.1348G>C (p.Val450Leu)
c.1006G>C (p.Val336Leu)
c.1354G>C (p.Val452Leu)
c.1318G>C (p.Val440Leu)
c.498G>C
c.46G>C (p.Val16Leu)
c.1408G>C (p.Val470Leu)
c.1312G>C (p.Val438Leu)
c.919G>C (p.Val307Leu)
c.1315G>C (p.Val439Leu)
c.346G>C (p.Val116Leu)
20g.63414990C>TCA409646525KCNQ2c.1384G>A (p.Val462Met)
c.1438G>A (p.Val480Met)
c.835G>A (p.Val279Met)
c.1348G>A (p.Val450Met)
c.1006G>A (p.Val336Met)
c.1354G>A (p.Val452Met)
c.1318G>A (p.Val440Met)
c.498G>A
c.46G>A (p.Val16Met)
c.1408G>A (p.Val470Met)
c.1312G>A (p.Val438Met)
c.919G>A (p.Val307Met)
c.1315G>A (p.Val439Met)
c.346G>A (p.Val116Met)
 gnomAD v4
20g.63414991C>ACA409646527KCNQ2c.1383G>T (p.Lys461Asn)
c.1437G>T (p.Lys479Asn)
c.834G>T (p.Lys278Asn)
c.1347G>T (p.Lys449Asn)
c.1005G>T (p.Lys335Asn)
c.1353G>T (p.Lys451Asn)
c.1317G>T (p.Lys439Asn)
c.497G>T
c.45G>T (p.Lys15Asn)
c.1407G>T (p.Lys469Asn)
c.1311G>T (p.Lys437Asn)
c.918G>T (p.Lys306Asn)
c.1314G>T (p.Lys438Asn)
c.345G>T (p.Lys115Asn)
20g.63414991C=CA2374778801KCNQ2c.1383G= (p.Lys461=)
c.1437G= (p.Lys479=)
c.834G= (p.Lys278=)
c.1347G= (p.Lys449=)
c.1005G= (p.Lys335=)
c.1353G= (p.Lys451=)
c.1317G= (p.Lys439=)
c.497G=
c.45G= (p.Lys15=)
c.1407G= (p.Lys469=)
c.1311G= (p.Lys437=)
c.918G= (p.Lys306=)
c.1314G= (p.Lys438=)
c.345G= (p.Lys115=)
20g.63414991C>GCA409646530KCNQ2c.1383G>C (p.Lys461Asn)
c.1437G>C (p.Lys479Asn)
c.834G>C (p.Lys278Asn)
c.1347G>C (p.Lys449Asn)
c.1005G>C (p.Lys335Asn)
c.1353G>C (p.Lys451Asn)
c.1317G>C (p.Lys439Asn)
c.497G>C
c.45G>C (p.Lys15Asn)
c.1407G>C (p.Lys469Asn)
c.1311G>C (p.Lys437Asn)
c.918G>C (p.Lys306Asn)
c.1314G>C (p.Lys438Asn)
c.345G>C (p.Lys115Asn)
 dbSNP
20g.63414991C>TCA511339710KCNQ2c.1383G>A (p.Lys461=)
c.1437G>A (p.Lys479=)
c.834G>A (p.Lys278=)
c.1347G>A (p.Lys449=)
c.1005G>A (p.Lys335=)
c.1353G>A (p.Lys451=)
c.1317G>A (p.Lys439=)
c.497G>A
c.45G>A (p.Lys15=)
c.1407G>A (p.Lys469=)
c.1311G>A (p.Lys437=)
c.918G>A (p.Lys306=)
c.1314G>A (p.Lys438=)
c.345G>A (p.Lys115=)
 ClinVar dbSNP
20g.63414992T>ACA409646533KCNQ2c.1382A>T (p.Lys461Met)
c.1436A>T (p.Lys479Met)
c.833A>T (p.Lys278Met)
c.1346A>T (p.Lys449Met)
c.1004A>T (p.Lys335Met)
c.1352A>T (p.Lys451Met)
c.1316A>T (p.Lys439Met)
c.496A>T
c.44A>T (p.Lys15Met)
c.1406A>T (p.Lys469Met)
c.1310A>T (p.Lys437Met)
c.917A>T (p.Lys306Met)
c.1313A>T (p.Lys438Met)
c.344A>T (p.Lys115Met)
20g.63414992T>CCA409646536KCNQ2c.1382A>G (p.Lys461Arg)
c.1436A>G (p.Lys479Arg)
c.833A>G (p.Lys278Arg)
c.1346A>G (p.Lys449Arg)
c.1004A>G (p.Lys335Arg)
c.1352A>G (p.Lys451Arg)
c.1316A>G (p.Lys439Arg)
c.496A>G
c.44A>G (p.Lys15Arg)
c.1406A>G (p.Lys469Arg)
c.1310A>G (p.Lys437Arg)
c.917A>G (p.Lys306Arg)
c.1313A>G (p.Lys438Arg)
c.344A>G (p.Lys115Arg)
20g.63414992T>GCA409646539KCNQ2c.1382A>C (p.Lys461Thr)
c.1436A>C (p.Lys479Thr)
c.833A>C (p.Lys278Thr)
c.1346A>C (p.Lys449Thr)
c.1004A>C (p.Lys335Thr)
c.1352A>C (p.Lys451Thr)
c.1316A>C (p.Lys439Thr)
c.496A>C
c.44A>C (p.Lys15Thr)
c.1406A>C (p.Lys469Thr)
c.1310A>C (p.Lys437Thr)
c.917A>C (p.Lys306Thr)
c.1313A>C (p.Lys438Thr)
c.344A>C (p.Lys115Thr)
20g.63414993T>ACA409646544KCNQ2c.1381A>T (p.Lys461Ter)
c.1435A>T (p.Lys479Ter)
c.832A>T (p.Lys278Ter)
c.1345A>T (p.Lys449Ter)
c.1003A>T (p.Lys335Ter)
c.1351A>T (p.Lys451Ter)
c.1315A>T (p.Lys439Ter)
c.495A>T
c.43A>T (p.Lys15Ter)
c.1405A>T (p.Lys469Ter)
c.1309A>T (p.Lys437Ter)
c.916A>T (p.Lys306Ter)
c.1312A>T (p.Lys438Ter)
c.343A>T (p.Lys115Ter)
20g.63414993T>CCA409646546KCNQ2c.1381A>G (p.Lys461Glu)
c.1435A>G (p.Lys479Glu)
c.832A>G (p.Lys278Glu)
c.1345A>G (p.Lys449Glu)
c.1003A>G (p.Lys335Glu)
c.1351A>G (p.Lys451Glu)
c.1315A>G (p.Lys439Glu)
c.495A>G
c.43A>G (p.Lys15Glu)
c.1405A>G (p.Lys469Glu)
c.1309A>G (p.Lys437Glu)
c.916A>G (p.Lys306Glu)
c.1312A>G (p.Lys438Glu)
c.343A>G (p.Lys115Glu)
20g.63414993T>GCA409646541KCNQ2c.1381A>C (p.Lys461Gln)
c.1435A>C (p.Lys479Gln)
c.832A>C (p.Lys278Gln)
c.1345A>C (p.Lys449Gln)
c.1003A>C (p.Lys335Gln)
c.1351A>C (p.Lys451Gln)
c.1315A>C (p.Lys439Gln)
c.495A>C
c.43A>C (p.Lys15Gln)
c.1405A>C (p.Lys469Gln)
c.1309A>C (p.Lys437Gln)
c.916A>C (p.Lys306Gln)
c.1312A>C (p.Lys438Gln)
c.343A>C (p.Lys115Gln)
20g.63414994G>ACA511339711KCNQ2c.1380C>T (p.Ser460=)
c.1434C>T (p.Ser478=)
c.831C>T (p.Ser277=)
c.1344C>T (p.Ser448=)
c.1002C>T (p.Ser334=)
c.1350C>T (p.Ser450=)
c.1314C>T (p.Ser438=)
c.494C>T
c.42C>T (p.Ser14=)
c.1404C>T (p.Ser468=)
c.1308C>T (p.Ser436=)
c.915C>T (p.Ser305=)
c.1311C>T (p.Ser437=)
c.342C>T (p.Ser114=)
20g.63414994G>CCA409646551KCNQ2c.1380C>G (p.Ser460Arg)
c.1434C>G (p.Ser478Arg)
c.831C>G (p.Ser277Arg)
c.1344C>G (p.Ser448Arg)
c.1002C>G (p.Ser334Arg)
c.1350C>G (p.Ser450Arg)
c.1314C>G (p.Ser438Arg)
c.494C>G
c.42C>G (p.Ser14Arg)
c.1404C>G (p.Ser468Arg)
c.1308C>G (p.Ser436Arg)
c.915C>G (p.Ser305Arg)
c.1311C>G (p.Ser437Arg)
c.342C>G (p.Ser114Arg)
20g.63414994G>TCA409646550KCNQ2c.1380C>A (p.Ser460Arg)
c.1434C>A (p.Ser478Arg)
c.831C>A (p.Ser277Arg)
c.1344C>A (p.Ser448Arg)
c.1002C>A (p.Ser334Arg)
c.1350C>A (p.Ser450Arg)
c.1314C>A (p.Ser438Arg)
c.494C>A
c.42C>A (p.Ser14Arg)
c.1404C>A (p.Ser468Arg)
c.1308C>A (p.Ser436Arg)
c.915C>A (p.Ser305Arg)
c.1311C>A (p.Ser437Arg)
c.342C>A (p.Ser114Arg)
20g.63414994_63415004delinsGCTGGGGCTGTCA2374778802KCNQ2c.1370_1380delinsACAGCCCCAGC (p.Asp457=)
c.1424_1434delinsACAGCCCCAGC (p.Asp475=)
c.821_831delinsACAGCCCCAGC (p.Asp274=)
c.1334_1344delinsACAGCCCCAGC (p.Asp445=)
c.992_1002delinsACAGCCCCAGC (p.Asp331=)
c.1340_1350delinsACAGCCCCAGC (p.Asp447=)
c.1304_1314delinsACAGCCCCAGC (p.Asp435=)
c.484_494delinsACAGCCCCAGC
c.32_42delinsACAGCCCCAGC (p.Asp11=)
c.1394_1404delinsACAGCCCCAGC (p.Asp465=)
c.1298_1308delinsACAGCCCCAGC (p.Asp433=)
c.905_915delinsACAGCCCCAGC (p.Asp302=)
c.1301_1311delinsACAGCCCCAGC (p.Asp434=)
c.332_342delinsACAGCCCCAGC (p.Asp111=)
20g.63414995C>ACA409646553KCNQ2c.1379G>T (p.Ser460Ile)
c.1433G>T (p.Ser478Ile)
c.830G>T (p.Ser277Ile)
c.1343G>T (p.Ser448Ile)
c.1001G>T (p.Ser334Ile)
c.1349G>T (p.Ser450Ile)
c.1313G>T (p.Ser438Ile)
c.493G>T
c.41G>T (p.Ser14Ile)
c.1403G>T (p.Ser468Ile)
c.1307G>T (p.Ser436Ile)
c.914G>T (p.Ser305Ile)
c.1310G>T (p.Ser437Ile)
c.341G>T (p.Ser114Ile)
20g.63414995C>GCA409646554KCNQ2c.1379G>C (p.Ser460Thr)
c.1433G>C (p.Ser478Thr)
c.830G>C (p.Ser277Thr)
c.1343G>C (p.Ser448Thr)
c.1001G>C (p.Ser334Thr)
c.1349G>C (p.Ser450Thr)
c.1313G>C (p.Ser438Thr)
c.493G>C
c.41G>C (p.Ser14Thr)
c.1403G>C (p.Ser468Thr)
c.1307G>C (p.Ser436Thr)
c.914G>C (p.Ser305Thr)
c.1310G>C (p.Ser437Thr)
c.341G>C (p.Ser114Thr)
20g.63414995C>TCA409646555KCNQ2c.1379G>A (p.Ser460Asn)
c.1433G>A (p.Ser478Asn)
c.830G>A (p.Ser277Asn)
c.1343G>A (p.Ser448Asn)
c.1001G>A (p.Ser334Asn)
c.1349G>A (p.Ser450Asn)
c.1313G>A (p.Ser438Asn)
c.493G>A
c.41G>A (p.Ser14Asn)
c.1403G>A (p.Ser468Asn)
c.1307G>A (p.Ser436Asn)
c.914G>A (p.Ser305Asn)
c.1310G>A (p.Ser437Asn)
c.341G>A (p.Ser114Asn)
 gnomAD v2 gnomAD v4
20g.63414996_63415005delCA915952968KCNQ2c.1370_1379del (p.Asp457AlafsTer?)
c.1424_1433del (p.Asp475AlafsTer?)
c.821_830del (p.Asp274AlafsTer?)
c.1334_1343del (p.Asp445AlafsTer?)
c.992_1001del (p.Asp331AlafsTer?)
c.1340_1349del (p.Asp447AlafsTer?)
c.1304_1313del (p.Asp435AlafsTer?)
c.484_493del
c.32_41del (p.Asp11AlafsTer?)
c.1394_1403del (p.Asp465AlafsTer?)
c.1298_1307del (p.Asp433AlafsTer?)
c.905_914del (p.Asp302AlafsTer?)
c.1301_1310del (p.Asp434AlafsTer?)
c.332_341del (p.Asp111AlafsTer?)
 ClinVar dbSNP
20g.63414996T>ACA409646557KCNQ2c.1378A>T (p.Ser460Cys)
c.1432A>T (p.Ser478Cys)
c.829A>T (p.Ser277Cys)
c.1342A>T (p.Ser448Cys)
c.1000A>T (p.Ser334Cys)
c.1348A>T (p.Ser450Cys)
c.1312A>T (p.Ser438Cys)
c.492A>T
c.40A>T (p.Ser14Cys)
c.1402A>T (p.Ser468Cys)
c.1306A>T (p.Ser436Cys)
c.913A>T (p.Ser305Cys)
c.1309A>T (p.Ser437Cys)
c.340A>T (p.Ser114Cys)
20g.63414996T>CCA409646558KCNQ2c.1378A>G (p.Ser460Gly)
c.1432A>G (p.Ser478Gly)
c.829A>G (p.Ser277Gly)
c.1342A>G (p.Ser448Gly)
c.1000A>G (p.Ser334Gly)
c.1348A>G (p.Ser450Gly)
c.1312A>G (p.Ser438Gly)
c.492A>G
c.40A>G (p.Ser14Gly)
c.1402A>G (p.Ser468Gly)
c.1306A>G (p.Ser436Gly)
c.913A>G (p.Ser305Gly)
c.1309A>G (p.Ser437Gly)
c.340A>G (p.Ser114Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63414996T>GCA409646559KCNQ2c.1378A>C (p.Ser460Arg)
c.1432A>C (p.Ser478Arg)
c.829A>C (p.Ser277Arg)
c.1342A>C (p.Ser448Arg)
c.1000A>C (p.Ser334Arg)
c.1348A>C (p.Ser450Arg)
c.1312A>C (p.Ser438Arg)
c.492A>C
c.40A>C (p.Ser14Arg)
c.1402A>C (p.Ser468Arg)
c.1306A>C (p.Ser436Arg)
c.913A>C (p.Ser305Arg)
c.1309A>C (p.Ser437Arg)
c.340A>C (p.Ser114Arg)
20g.63414996T=CA2374778803KCNQ2c.1378A= (p.Ser460=)
c.1432A= (p.Ser478=)
c.829A= (p.Ser277=)
c.1342A= (p.Ser448=)
c.1000A= (p.Ser334=)
c.1348A= (p.Ser450=)
c.1312A= (p.Ser438=)
c.492A=
c.40A= (p.Ser14=)
c.1402A= (p.Ser468=)
c.1306A= (p.Ser436=)
c.913A= (p.Ser305=)
c.1309A= (p.Ser437=)
c.340A= (p.Ser114=)
20g.63414997G>ACA511339712KCNQ2c.1377C>T (p.Pro459=)
c.1431C>T (p.Pro477=)
c.828C>T (p.Pro276=)
c.1341C>T (p.Pro447=)
c.999C>T (p.Pro333=)
c.1347C>T (p.Pro449=)
c.1311C>T (p.Pro437=)
c.491C>T
c.39C>T (p.Pro13=)
c.1401C>T (p.Pro467=)
c.1305C>T (p.Pro435=)
c.912C>T (p.Pro304=)
c.1308C>T (p.Pro436=)
c.339C>T (p.Pro113=)
20g.63414997G>CCA511339713KCNQ2c.1377C>G (p.Pro459=)
c.1431C>G (p.Pro477=)
c.828C>G (p.Pro276=)
c.1341C>G (p.Pro447=)
c.999C>G (p.Pro333=)
c.1347C>G (p.Pro449=)
c.1311C>G (p.Pro437=)
c.491C>G
c.39C>G (p.Pro13=)
c.1401C>G (p.Pro467=)
c.1305C>G (p.Pro435=)
c.912C>G (p.Pro304=)
c.1308C>G (p.Pro436=)
c.339C>G (p.Pro113=)
20g.63414997G>TCA511339714KCNQ2c.1377C>A (p.Pro459=)
c.1431C>A (p.Pro477=)
c.828C>A (p.Pro276=)
c.1341C>A (p.Pro447=)
c.999C>A (p.Pro333=)
c.1347C>A (p.Pro449=)
c.1311C>A (p.Pro437=)
c.491C>A
c.39C>A (p.Pro13=)
c.1401C>A (p.Pro467=)
c.1305C>A (p.Pro435=)
c.912C>A (p.Pro304=)
c.1308C>A (p.Pro436=)
c.339C>A (p.Pro113=)
20g.63414998G>ACA409646561KCNQ2c.1376C>T (p.Pro459Leu)
c.1430C>T (p.Pro477Leu)
c.827C>T (p.Pro276Leu)
c.1340C>T (p.Pro447Leu)
c.998C>T (p.Pro333Leu)
c.1346C>T (p.Pro449Leu)
c.1310C>T (p.Pro437Leu)
c.490C>T
c.38C>T (p.Pro13Leu)
c.1400C>T (p.Pro467Leu)
c.1304C>T (p.Pro435Leu)
c.911C>T (p.Pro304Leu)
c.1307C>T (p.Pro436Leu)
c.338C>T (p.Pro113Leu)
20g.63414998G>CCA409646562KCNQ2c.1376C>G (p.Pro459Arg)
c.1430C>G (p.Pro477Arg)
c.827C>G (p.Pro276Arg)
c.1340C>G (p.Pro447Arg)
c.998C>G (p.Pro333Arg)
c.1346C>G (p.Pro449Arg)
c.1310C>G (p.Pro437Arg)
c.490C>G
c.38C>G (p.Pro13Arg)
c.1400C>G (p.Pro467Arg)
c.1304C>G (p.Pro435Arg)
c.911C>G (p.Pro304Arg)
c.1307C>G (p.Pro436Arg)
c.338C>G (p.Pro113Arg)
20g.63414998G>TCA409646564KCNQ2c.1376C>A (p.Pro459His)
c.1430C>A (p.Pro477His)
c.827C>A (p.Pro276His)
c.1340C>A (p.Pro447His)
c.998C>A (p.Pro333His)
c.1346C>A (p.Pro449His)
c.1310C>A (p.Pro437His)
c.490C>A
c.38C>A (p.Pro13His)
c.1400C>A (p.Pro467His)
c.1304C>A (p.Pro435His)
c.911C>A (p.Pro304His)
c.1307C>A (p.Pro436His)
c.338C>A (p.Pro113His)
20g.63414999G>ACA409646566KCNQ2c.1375C>T (p.Pro459Ser)
c.1429C>T (p.Pro477Ser)
c.826C>T (p.Pro276Ser)
c.1339C>T (p.Pro447Ser)
c.997C>T (p.Pro333Ser)
c.1345C>T (p.Pro449Ser)
c.1309C>T (p.Pro437Ser)
c.489C>T
c.37C>T (p.Pro13Ser)
c.1399C>T (p.Pro467Ser)
c.1303C>T (p.Pro435Ser)
c.910C>T (p.Pro304Ser)
c.1306C>T (p.Pro436Ser)
c.337C>T (p.Pro113Ser)
20g.63414999G>CCA409646567KCNQ2c.1375C>G (p.Pro459Ala)
c.1429C>G (p.Pro477Ala)
c.826C>G (p.Pro276Ala)
c.1339C>G (p.Pro447Ala)
c.997C>G (p.Pro333Ala)
c.1345C>G (p.Pro449Ala)
c.1309C>G (p.Pro437Ala)
c.489C>G
c.37C>G (p.Pro13Ala)
c.1399C>G (p.Pro467Ala)
c.1303C>G (p.Pro435Ala)
c.910C>G (p.Pro304Ala)
c.1306C>G (p.Pro436Ala)
c.337C>G (p.Pro113Ala)
20g.63414999G>TCA409646569KCNQ2c.1375C>A (p.Pro459Thr)
c.1429C>A (p.Pro477Thr)
c.826C>A (p.Pro276Thr)
c.1339C>A (p.Pro447Thr)
c.997C>A (p.Pro333Thr)
c.1345C>A (p.Pro449Thr)
c.1309C>A (p.Pro437Thr)
c.489C>A
c.37C>A (p.Pro13Thr)
c.1399C>A (p.Pro467Thr)
c.1303C>A (p.Pro435Thr)
c.910C>A (p.Pro304Thr)
c.1306C>A (p.Pro436Thr)
c.337C>A (p.Pro113Thr)
 gnomAD v4
20g.63415000G>ACA511339715KCNQ2c.1374C>T (p.Ser458=)
c.1428C>T (p.Ser476=)
c.825C>T (p.Ser275=)
c.1338C>T (p.Ser446=)
c.996C>T (p.Ser332=)
c.1344C>T (p.Ser448=)
c.1308C>T (p.Ser436=)
c.488C>T
c.36C>T (p.Ser12=)
c.1398C>T (p.Ser466=)
c.1302C>T (p.Ser434=)
c.909C>T (p.Ser303=)
c.1305C>T (p.Ser435=)
c.336C>T (p.Ser112=)
 dbSNP gnomAD v4
20g.63415000G>CCA409646573KCNQ2c.1374C>G (p.Ser458Arg)
c.1428C>G (p.Ser476Arg)
c.825C>G (p.Ser275Arg)
c.1338C>G (p.Ser446Arg)
c.996C>G (p.Ser332Arg)
c.1344C>G (p.Ser448Arg)
c.1308C>G (p.Ser436Arg)
c.488C>G
c.36C>G (p.Ser12Arg)
c.1398C>G (p.Ser466Arg)
c.1302C>G (p.Ser434Arg)
c.909C>G (p.Ser303Arg)
c.1305C>G (p.Ser435Arg)
c.336C>G (p.Ser112Arg)
20g.63415000G>TCA409646572KCNQ2c.1374C>A (p.Ser458Arg)
c.1428C>A (p.Ser476Arg)
c.825C>A (p.Ser275Arg)
c.1338C>A (p.Ser446Arg)
c.996C>A (p.Ser332Arg)
c.1344C>A (p.Ser448Arg)
c.1308C>A (p.Ser436Arg)
c.488C>A
c.36C>A (p.Ser12Arg)
c.1398C>A (p.Ser466Arg)
c.1302C>A (p.Ser434Arg)
c.909C>A (p.Ser303Arg)
c.1305C>A (p.Ser435Arg)
c.336C>A (p.Ser112Arg)
20g.63415001C>ACA409646574KCNQ2c.1373G>T (p.Ser458Ile)
c.1427G>T (p.Ser476Ile)
c.824G>T (p.Ser275Ile)
c.1337G>T (p.Ser446Ile)
c.995G>T (p.Ser332Ile)
c.1343G>T (p.Ser448Ile)
c.1307G>T (p.Ser436Ile)
c.487G>T
c.35G>T (p.Ser12Ile)
c.1397G>T (p.Ser466Ile)
c.1301G>T (p.Ser434Ile)
c.908G>T (p.Ser303Ile)
c.1304G>T (p.Ser435Ile)
c.335G>T (p.Ser112Ile)
 gnomAD v4
20g.63415001C>GCA409646576KCNQ2c.1373G>C (p.Ser458Thr)
c.1427G>C (p.Ser476Thr)
c.824G>C (p.Ser275Thr)
c.1337G>C (p.Ser446Thr)
c.995G>C (p.Ser332Thr)
c.1343G>C (p.Ser448Thr)
c.1307G>C (p.Ser436Thr)
c.487G>C
c.35G>C (p.Ser12Thr)
c.1397G>C (p.Ser466Thr)
c.1301G>C (p.Ser434Thr)
c.908G>C (p.Ser303Thr)
c.1304G>C (p.Ser435Thr)
c.335G>C (p.Ser112Thr)
20g.63415001C>TCA409646578KCNQ2c.1373G>A (p.Ser458Asn)
c.1427G>A (p.Ser476Asn)
c.824G>A (p.Ser275Asn)
c.1337G>A (p.Ser446Asn)
c.995G>A (p.Ser332Asn)
c.1343G>A (p.Ser448Asn)
c.1307G>A (p.Ser436Asn)
c.487G>A
c.35G>A (p.Ser12Asn)
c.1397G>A (p.Ser466Asn)
c.1301G>A (p.Ser434Asn)
c.908G>A (p.Ser303Asn)
c.1304G>A (p.Ser435Asn)
c.335G>A (p.Ser112Asn)
20g.63415002T>ACA409646580KCNQ2c.1372A>T (p.Ser458Cys)
c.1426A>T (p.Ser476Cys)
c.823A>T (p.Ser275Cys)
c.1336A>T (p.Ser446Cys)
c.994A>T (p.Ser332Cys)
c.1342A>T (p.Ser448Cys)
c.1306A>T (p.Ser436Cys)
c.486A>T
c.34A>T (p.Ser12Cys)
c.1396A>T (p.Ser466Cys)
c.1300A>T (p.Ser434Cys)
c.907A>T (p.Ser303Cys)
c.1303A>T (p.Ser435Cys)
c.334A>T (p.Ser112Cys)
20g.63415002T>CCA409646581KCNQ2c.1372A>G (p.Ser458Gly)
c.1426A>G (p.Ser476Gly)
c.823A>G (p.Ser275Gly)
c.1336A>G (p.Ser446Gly)
c.994A>G (p.Ser332Gly)
c.1342A>G (p.Ser448Gly)
c.1306A>G (p.Ser436Gly)
c.486A>G
c.34A>G (p.Ser12Gly)
c.1396A>G (p.Ser466Gly)
c.1300A>G (p.Ser434Gly)
c.907A>G (p.Ser303Gly)
c.1303A>G (p.Ser435Gly)
c.334A>G (p.Ser112Gly)
20g.63415002T>GCA409646583KCNQ2c.1372A>C (p.Ser458Arg)
c.1426A>C (p.Ser476Arg)
c.823A>C (p.Ser275Arg)
c.1336A>C (p.Ser446Arg)
c.994A>C (p.Ser332Arg)
c.1342A>C (p.Ser448Arg)
c.1306A>C (p.Ser436Arg)
c.486A>C
c.34A>C (p.Ser12Arg)
c.1396A>C (p.Ser466Arg)
c.1300A>C (p.Ser434Arg)
c.907A>C (p.Ser303Arg)
c.1303A>C (p.Ser435Arg)
c.334A>C (p.Ser112Arg)
20g.63415003G>ACA511339716KCNQ2c.1371C>T (p.Asp457=)
c.1425C>T (p.Asp475=)
c.822C>T (p.Asp274=)
c.1335C>T (p.Asp445=)
c.993C>T (p.Asp331=)
c.1341C>T (p.Asp447=)
c.1305C>T (p.Asp435=)
c.485C>T
c.33C>T (p.Asp11=)
c.1395C>T (p.Asp465=)
c.1299C>T (p.Asp433=)
c.906C>T (p.Asp302=)
c.1302C>T (p.Asp434=)
c.333C>T (p.Asp111=)
20g.63415003G>CCA409646585KCNQ2c.1371C>G (p.Asp457Glu)
c.1425C>G (p.Asp475Glu)
c.822C>G (p.Asp274Glu)
c.1335C>G (p.Asp445Glu)
c.993C>G (p.Asp331Glu)
c.1341C>G (p.Asp447Glu)
c.1305C>G (p.Asp435Glu)
c.485C>G
c.33C>G (p.Asp11Glu)
c.1395C>G (p.Asp465Glu)
c.1299C>G (p.Asp433Glu)
c.906C>G (p.Asp302Glu)
c.1302C>G (p.Asp434Glu)
c.333C>G (p.Asp111Glu)
20g.63415003G=CA2374778804KCNQ2c.1371C= (p.Asp457=)
c.1425C= (p.Asp475=)
c.822C= (p.Asp274=)
c.1335C= (p.Asp445=)
c.993C= (p.Asp331=)
c.1341C= (p.Asp447=)
c.1305C= (p.Asp435=)
c.485C=
c.33C= (p.Asp11=)
c.1395C= (p.Asp465=)
c.1299C= (p.Asp433=)
c.906C= (p.Asp302=)
c.1302C= (p.Asp434=)
c.333C= (p.Asp111=)
20g.63415003G>TCA317431033KCNQ2c.1371C>A (p.Asp457Glu)
c.1425C>A (p.Asp475Glu)
c.822C>A (p.Asp274Glu)
c.1335C>A (p.Asp445Glu)
c.993C>A (p.Asp331Glu)
c.1341C>A (p.Asp447Glu)
c.1305C>A (p.Asp435Glu)
c.485C>A
c.33C>A (p.Asp11Glu)
c.1395C>A (p.Asp465Glu)
c.1299C>A (p.Asp433Glu)
c.906C>A (p.Asp302Glu)
c.1302C>A (p.Asp434Glu)
c.333C>A (p.Asp111Glu)
 ClinVar dbSNP
20g.63415004T>ACA409646587KCNQ2c.1370A>T (p.Asp457Val)
c.1424A>T (p.Asp475Val)
c.821A>T (p.Asp274Val)
c.1334A>T (p.Asp445Val)
c.992A>T (p.Asp331Val)
c.1340A>T (p.Asp447Val)
c.1304A>T (p.Asp435Val)
c.484A>T
c.32A>T (p.Asp11Val)
c.1394A>T (p.Asp465Val)
c.1298A>T (p.Asp433Val)
c.905A>T (p.Asp302Val)
c.1301A>T (p.Asp434Val)
c.332A>T (p.Asp111Val)
20g.63415004T>CCA409646588KCNQ2c.1370A>G (p.Asp457Gly)
c.1424A>G (p.Asp475Gly)
c.821A>G (p.Asp274Gly)
c.1334A>G (p.Asp445Gly)
c.992A>G (p.Asp331Gly)
c.1340A>G (p.Asp447Gly)
c.1304A>G (p.Asp435Gly)
c.484A>G
c.32A>G (p.Asp11Gly)
c.1394A>G (p.Asp465Gly)
c.1298A>G (p.Asp433Gly)
c.905A>G (p.Asp302Gly)
c.1301A>G (p.Asp434Gly)
c.332A>G (p.Asp111Gly)
20g.63415004T>GCA409646590KCNQ2c.1370A>C (p.Asp457Ala)
c.1424A>C (p.Asp475Ala)
c.821A>C (p.Asp274Ala)
c.1334A>C (p.Asp445Ala)
c.992A>C (p.Asp331Ala)
c.1340A>C (p.Asp447Ala)
c.1304A>C (p.Asp435Ala)
c.484A>C
c.32A>C (p.Asp11Ala)
c.1394A>C (p.Asp465Ala)
c.1298A>C (p.Asp433Ala)
c.905A>C (p.Asp302Ala)
c.1301A>C (p.Asp434Ala)
c.332A>C (p.Asp111Ala)
20g.63415005C>ACA409646592KCNQ2c.1369G>T (p.Asp457Tyr)
c.1423G>T (p.Asp475Tyr)
c.820G>T (p.Asp274Tyr)
c.1333G>T (p.Asp445Tyr)
c.991G>T (p.Asp331Tyr)
c.1339G>T (p.Asp447Tyr)
c.1303G>T (p.Asp435Tyr)
c.483G>T
c.31G>T (p.Asp11Tyr)
c.1393G>T (p.Asp465Tyr)
c.1297G>T (p.Asp433Tyr)
c.904G>T (p.Asp302Tyr)
c.1300G>T (p.Asp434Tyr)
c.331G>T (p.Asp111Tyr)
 ClinVar
20g.63415005C>GCA409646593KCNQ2c.1369G>C (p.Asp457His)
c.1423G>C (p.Asp475His)
c.820G>C (p.Asp274His)
c.1333G>C (p.Asp445His)
c.991G>C (p.Asp331His)
c.1339G>C (p.Asp447His)
c.1303G>C (p.Asp435His)
c.483G>C
c.31G>C (p.Asp11His)
c.1393G>C (p.Asp465His)
c.1297G>C (p.Asp433His)
c.904G>C (p.Asp302His)
c.1300G>C (p.Asp434His)
c.331G>C (p.Asp111His)
20g.63415005C>TCA409646594KCNQ2c.1369G>A (p.Asp457Asn)
c.1423G>A (p.Asp475Asn)
c.820G>A (p.Asp274Asn)
c.1333G>A (p.Asp445Asn)
c.991G>A (p.Asp331Asn)
c.1339G>A (p.Asp447Asn)
c.1303G>A (p.Asp435Asn)
c.483G>A
c.31G>A (p.Asp11Asn)
c.1393G>A (p.Asp465Asn)
c.1297G>A (p.Asp433Asn)
c.904G>A (p.Asp302Asn)
c.1300G>A (p.Asp434Asn)
c.331G>A (p.Asp111Asn)
 COSMIC COSMIC COSMIC
20g.63415006C>ACA409646596KCNQ2c.1368G>T (p.Glu456Asp)
c.1422G>T (p.Glu474Asp)
c.819G>T (p.Glu273Asp)
c.1332G>T (p.Glu444Asp)
c.990G>T (p.Glu330Asp)
c.1338G>T (p.Glu446Asp)
c.1302G>T (p.Glu434Asp)
c.482G>T
c.30G>T (p.Glu10Asp)
c.1392G>T (p.Glu464Asp)
c.1296G>T (p.Glu432Asp)
c.903G>T (p.Glu301Asp)
c.1299G>T (p.Glu433Asp)
c.330G>T (p.Glu110Asp)
20g.63415006C=CA2374778805KCNQ2c.1368G= (p.Glu456=)
c.1422G= (p.Glu474=)
c.819G= (p.Glu273=)
c.1332G= (p.Glu444=)
c.990G= (p.Glu330=)
c.1338G= (p.Glu446=)
c.1302G= (p.Glu434=)
c.482G=
c.30G= (p.Glu10=)
c.1392G= (p.Glu464=)
c.1296G= (p.Glu432=)
c.903G= (p.Glu301=)
c.1299G= (p.Glu433=)
c.330G= (p.Glu110=)
20g.63415006C>GCA409646598KCNQ2c.1368G>C (p.Glu456Asp)
c.1422G>C (p.Glu474Asp)
c.819G>C (p.Glu273Asp)
c.1332G>C (p.Glu444Asp)
c.990G>C (p.Glu330Asp)
c.1338G>C (p.Glu446Asp)
c.1302G>C (p.Glu434Asp)
c.482G>C
c.30G>C (p.Glu10Asp)
c.1392G>C (p.Glu464Asp)
c.1296G>C (p.Glu432Asp)
c.903G>C (p.Glu301Asp)
c.1299G>C (p.Glu433Asp)
c.330G>C (p.Glu110Asp)
20g.63415006C>TCA511339717KCNQ2c.1368G>A (p.Glu456=)
c.1422G>A (p.Glu474=)
c.819G>A (p.Glu273=)
c.1332G>A (p.Glu444=)
c.990G>A (p.Glu330=)
c.1338G>A (p.Glu446=)
c.1302G>A (p.Glu434=)
c.482G>A
c.30G>A (p.Glu10=)
c.1392G>A (p.Glu464=)
c.1296G>A (p.Glu432=)
c.903G>A (p.Glu301=)
c.1299G>A (p.Glu433=)
c.330G>A (p.Glu110=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415007T>ACA409646600KCNQ2c.1367A>T (p.Glu456Val)
c.1421A>T (p.Glu474Val)
c.818A>T (p.Glu273Val)
c.1331A>T (p.Glu444Val)
c.989A>T (p.Glu330Val)
c.1337A>T (p.Glu446Val)
c.1301A>T (p.Glu434Val)
c.481A>T
c.29A>T (p.Glu10Val)
c.1391A>T (p.Glu464Val)
c.1295A>T (p.Glu432Val)
c.902A>T (p.Glu301Val)
c.1298A>T (p.Glu433Val)
c.329A>T (p.Glu110Val)
20g.63415007T>CCA409646601KCNQ2c.1367A>G (p.Glu456Gly)
c.1421A>G (p.Glu474Gly)
c.818A>G (p.Glu273Gly)
c.1331A>G (p.Glu444Gly)
c.989A>G (p.Glu330Gly)
c.1337A>G (p.Glu446Gly)
c.1301A>G (p.Glu434Gly)
c.481A>G
c.29A>G (p.Glu10Gly)
c.1391A>G (p.Glu464Gly)
c.1295A>G (p.Glu432Gly)
c.902A>G (p.Glu301Gly)
c.1298A>G (p.Glu433Gly)
c.329A>G (p.Glu110Gly)
20g.63415007T>GCA409646603KCNQ2c.1367A>C (p.Glu456Ala)
c.1421A>C (p.Glu474Ala)
c.818A>C (p.Glu273Ala)
c.1331A>C (p.Glu444Ala)
c.989A>C (p.Glu330Ala)
c.1337A>C (p.Glu446Ala)
c.1301A>C (p.Glu434Ala)
c.481A>C
c.29A>C (p.Glu10Ala)
c.1391A>C (p.Glu464Ala)
c.1295A>C (p.Glu432Ala)
c.902A>C (p.Glu301Ala)
c.1298A>C (p.Glu433Ala)
c.329A>C (p.Glu110Ala)
20g.63415008C>ACA409646605KCNQ2c.1366G>T (p.Glu456Ter)
c.1420G>T (p.Glu474Ter)
c.817G>T (p.Glu273Ter)
c.1330G>T (p.Glu444Ter)
c.988G>T (p.Glu330Ter)
c.1336G>T (p.Glu446Ter)
c.1300G>T (p.Glu434Ter)
c.480G>T
c.28G>T (p.Glu10Ter)
c.1390G>T (p.Glu464Ter)
c.1294G>T (p.Glu432Ter)
c.901G>T (p.Glu301Ter)
c.1297G>T (p.Glu433Ter)
c.328G>T (p.Glu110Ter)
 ClinVar dbSNP
20g.63415008C=CA2374778806KCNQ2c.1366G= (p.Glu456=)
c.1420G= (p.Glu474=)
c.817G= (p.Glu273=)
c.1330G= (p.Glu444=)
c.988G= (p.Glu330=)
c.1336G= (p.Glu446=)
c.1300G= (p.Glu434=)
c.480G=
c.28G= (p.Glu10=)
c.1390G= (p.Glu464=)
c.1294G= (p.Glu432=)
c.901G= (p.Glu301=)
c.1297G= (p.Glu433=)
c.328G= (p.Glu110=)
20g.63415008C>GCA409646606KCNQ2c.1366G>C (p.Glu456Gln)
c.1420G>C (p.Glu474Gln)
c.817G>C (p.Glu273Gln)
c.1330G>C (p.Glu444Gln)
c.988G>C (p.Glu330Gln)
c.1336G>C (p.Glu446Gln)
c.1300G>C (p.Glu434Gln)
c.480G>C
c.28G>C (p.Glu10Gln)
c.1390G>C (p.Glu464Gln)
c.1294G>C (p.Glu432Gln)
c.901G>C (p.Glu301Gln)
c.1297G>C (p.Glu433Gln)
c.328G>C (p.Glu110Gln)
 COSMIC COSMIC COSMIC
20g.63415008C>TCA9958458KCNQ2c.1366G>A (p.Glu456Lys)
c.1420G>A (p.Glu474Lys)
c.817G>A (p.Glu273Lys)
c.1330G>A (p.Glu444Lys)
c.988G>A (p.Glu330Lys)
c.1336G>A (p.Glu446Lys)
c.1300G>A (p.Glu434Lys)
c.480G>A
c.28G>A (p.Glu10Lys)
c.1390G>A (p.Glu464Lys)
c.1294G>A (p.Glu432Lys)
c.901G>A (p.Glu301Lys)
c.1297G>A (p.Glu433Lys)
c.328G>A (p.Glu110Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415008_63415010delinsCGACA2374778807KCNQ2c.1364_1366delinsTCG (p.Leu455=)
c.1418_1420delinsTCG (p.Leu473=)
c.815_817delinsTCG (p.Leu272=)
c.1328_1330delinsTCG (p.Leu443=)
c.986_988delinsTCG (p.Leu329=)
c.1334_1336delinsTCG (p.Leu445=)
c.1298_1300delinsTCG (p.Leu433=)
c.478_480delinsTCG
c.26_28delinsTCG (p.Leu9=)
c.1388_1390delinsTCG (p.Leu463=)
c.1292_1294delinsTCG (p.Leu431=)
c.899_901delinsTCG (p.Leu300=)
c.1295_1297delinsTCG (p.Leu432=)
c.326_328delinsTCG (p.Leu109=)
20g.63415009G>ACA291795KCNQ2c.1365C>T (p.Leu455=)
c.1419C>T (p.Leu473=)
c.816C>T (p.Leu272=)
c.1329C>T (p.Leu443=)
c.987C>T (p.Leu329=)
c.1335C>T (p.Leu445=)
c.1299C>T (p.Leu433=)
c.479C>T
c.27C>T (p.Leu9=)
c.1389C>T (p.Leu463=)
c.1293C>T (p.Leu431=)
c.900C>T (p.Leu300=)
c.1296C>T (p.Leu432=)
c.327C>T (p.Leu109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415009G>CCA511339718KCNQ2c.1365C>G (p.Leu455=)
c.1419C>G (p.Leu473=)
c.816C>G (p.Leu272=)
c.1329C>G (p.Leu443=)
c.987C>G (p.Leu329=)
c.1335C>G (p.Leu445=)
c.1299C>G (p.Leu433=)
c.479C>G
c.27C>G (p.Leu9=)
c.1389C>G (p.Leu463=)
c.1293C>G (p.Leu431=)
c.900C>G (p.Leu300=)
c.1296C>G (p.Leu432=)
c.327C>G (p.Leu109=)
 gnomAD v4
20g.63415009G=CA2374778808KCNQ2c.1365C= (p.Leu455=)
c.1419C= (p.Leu473=)
c.816C= (p.Leu272=)
c.1329C= (p.Leu443=)
c.987C= (p.Leu329=)
c.1335C= (p.Leu445=)
c.1299C= (p.Leu433=)
c.479C=
c.27C= (p.Leu9=)
c.1389C= (p.Leu463=)
c.1293C= (p.Leu431=)
c.900C= (p.Leu300=)
c.1296C= (p.Leu432=)
c.327C= (p.Leu109=)
20g.63415009G>TCA511339719KCNQ2c.1365C>A (p.Leu455=)
c.1419C>A (p.Leu473=)
c.816C>A (p.Leu272=)
c.1329C>A (p.Leu443=)
c.987C>A (p.Leu329=)
c.1335C>A (p.Leu445=)
c.1299C>A (p.Leu433=)
c.479C>A
c.27C>A (p.Leu9=)
c.1389C>A (p.Leu463=)
c.1293C>A (p.Leu431=)
c.900C>A (p.Leu300=)
c.1296C>A (p.Leu432=)
c.327C>A (p.Leu109=)
20g.63415010_63415011delCA10654789KCNQ2c.1364_1365del (p.Leu455ArgfsTer?)
c.1418_1419del (p.Leu473ArgfsTer?)
c.815_816del (p.Leu272ArgfsTer?)
c.1328_1329del (p.Leu443ArgfsTer?)
c.986_987del (p.Leu329ArgfsTer?)
c.1334_1335del (p.Leu445ArgfsTer?)
c.1298_1299del (p.Leu433ArgfsTer?)
c.478_479del
c.26_27del (p.Leu9ArgfsTer?)
c.1388_1389del (p.Leu463ArgfsTer?)
c.1292_1293del (p.Leu431ArgfsTer?)
c.899_900del (p.Leu300ArgfsTer?)
c.1295_1296del (p.Leu432ArgfsTer?)
c.326_327del (p.Leu109ArgfsTer?)
 ClinVar dbSNP
20g.63415010A>CCA409646610KCNQ2c.1364T>G (p.Leu455Arg)
c.1418T>G (p.Leu473Arg)
c.815T>G (p.Leu272Arg)
c.1328T>G (p.Leu443Arg)
c.986T>G (p.Leu329Arg)
c.1334T>G (p.Leu445Arg)
c.1298T>G (p.Leu433Arg)
c.478T>G
c.26T>G (p.Leu9Arg)
c.1388T>G (p.Leu463Arg)
c.1292T>G (p.Leu431Arg)
c.899T>G (p.Leu300Arg)
c.1295T>G (p.Leu432Arg)
c.326T>G (p.Leu109Arg)
20g.63415010A>GCA409646612KCNQ2c.1364T>C (p.Leu455Pro)
c.1418T>C (p.Leu473Pro)
c.815T>C (p.Leu272Pro)
c.1328T>C (p.Leu443Pro)
c.986T>C (p.Leu329Pro)
c.1334T>C (p.Leu445Pro)
c.1298T>C (p.Leu433Pro)
c.478T>C
c.26T>C (p.Leu9Pro)
c.1388T>C (p.Leu463Pro)
c.1292T>C (p.Leu431Pro)
c.899T>C (p.Leu300Pro)
c.1295T>C (p.Leu432Pro)
c.326T>C (p.Leu109Pro)
 dbSNP
20g.63415010A>TCA409646614KCNQ2c.1364T>A (p.Leu455His)
c.1418T>A (p.Leu473His)
c.815T>A (p.Leu272His)
c.1328T>A (p.Leu443His)
c.986T>A (p.Leu329His)
c.1334T>A (p.Leu445His)
c.1298T>A (p.Leu433His)
c.478T>A
c.26T>A (p.Leu9His)
c.1388T>A (p.Leu463His)
c.1292T>A (p.Leu431His)
c.899T>A (p.Leu300His)
c.1295T>A (p.Leu432His)
c.326T>A (p.Leu109His)
 dbSNP
20g.63415011G>ACA409646616KCNQ2c.1363C>T (p.Leu455Phe)
c.1417C>T (p.Leu473Phe)
c.814C>T (p.Leu272Phe)
c.1327C>T (p.Leu443Phe)
c.985C>T (p.Leu329Phe)
c.1333C>T (p.Leu445Phe)
c.1297C>T (p.Leu433Phe)
c.477C>T
c.25C>T (p.Leu9Phe)
c.1387C>T (p.Leu463Phe)
c.1291C>T (p.Leu431Phe)
c.898C>T (p.Leu300Phe)
c.1294C>T (p.Leu432Phe)
c.325C>T (p.Leu109Phe)
20g.63415011G>CCA409646617KCNQ2c.1363C>G (p.Leu455Val)
c.1417C>G (p.Leu473Val)
c.814C>G (p.Leu272Val)
c.1327C>G (p.Leu443Val)
c.985C>G (p.Leu329Val)
c.1333C>G (p.Leu445Val)
c.1297C>G (p.Leu433Val)
c.477C>G
c.25C>G (p.Leu9Val)
c.1387C>G (p.Leu463Val)
c.1291C>G (p.Leu431Val)
c.898C>G (p.Leu300Val)
c.1294C>G (p.Leu432Val)
c.325C>G (p.Leu109Val)
20g.63415011G>TCA409646618KCNQ2c.1363C>A (p.Leu455Ile)
c.1417C>A (p.Leu473Ile)
c.814C>A (p.Leu272Ile)
c.1327C>A (p.Leu443Ile)
c.985C>A (p.Leu329Ile)
c.1333C>A (p.Leu445Ile)
c.1297C>A (p.Leu433Ile)
c.477C>A
c.25C>A (p.Leu9Ile)
c.1387C>A (p.Leu463Ile)
c.1291C>A (p.Leu431Ile)
c.898C>A (p.Leu300Ile)
c.1294C>A (p.Leu432Ile)
c.325C>A (p.Leu109Ile)
20g.63415012G>ACA511339720KCNQ2c.1362C>T (p.Ser454=)
c.1416C>T (p.Ser472=)
c.813C>T (p.Ser271=)
c.1326C>T (p.Ser442=)
c.984C>T (p.Ser328=)
c.1332C>T (p.Ser444=)
c.1296C>T (p.Ser432=)
c.476C>T
c.24C>T (p.Ser8=)
c.1386C>T (p.Ser462=)
c.1290C>T (p.Ser430=)
c.897C>T (p.Ser299=)
c.1293C>T (p.Ser431=)
c.324C>T (p.Ser108=)
20g.63415012G>CCA409646621KCNQ2c.1362C>G (p.Ser454Arg)
c.1416C>G (p.Ser472Arg)
c.813C>G (p.Ser271Arg)
c.1326C>G (p.Ser442Arg)
c.984C>G (p.Ser328Arg)
c.1332C>G (p.Ser444Arg)
c.1296C>G (p.Ser432Arg)
c.476C>G
c.24C>G (p.Ser8Arg)
c.1386C>G (p.Ser462Arg)
c.1290C>G (p.Ser430Arg)
c.897C>G (p.Ser299Arg)
c.1293C>G (p.Ser431Arg)
c.324C>G (p.Ser108Arg)
20g.63415012G>TCA409646622KCNQ2c.1362C>A (p.Ser454Arg)
c.1416C>A (p.Ser472Arg)
c.813C>A (p.Ser271Arg)
c.1326C>A (p.Ser442Arg)
c.984C>A (p.Ser328Arg)
c.1332C>A (p.Ser444Arg)
c.1296C>A (p.Ser432Arg)
c.476C>A
c.24C>A (p.Ser8Arg)
c.1386C>A (p.Ser462Arg)
c.1290C>A (p.Ser430Arg)
c.897C>A (p.Ser299Arg)
c.1293C>A (p.Ser431Arg)
c.324C>A (p.Ser108Arg)
 gnomAD v4
20g.63415013C>ACA409646624KCNQ2c.1361G>T (p.Ser454Ile)
c.1415G>T (p.Ser472Ile)
c.812G>T (p.Ser271Ile)
c.1325G>T (p.Ser442Ile)
c.983G>T (p.Ser328Ile)
c.1331G>T (p.Ser444Ile)
c.1295G>T (p.Ser432Ile)
c.475G>T
c.23G>T (p.Ser8Ile)
c.1385G>T (p.Ser462Ile)
c.1289G>T (p.Ser430Ile)
c.896G>T (p.Ser299Ile)
c.1292G>T (p.Ser431Ile)
c.323G>T (p.Ser108Ile)
 gnomAD v4
20g.63415013C=CA2374778809KCNQ2c.1361G= (p.Ser454=)
c.1415G= (p.Ser472=)
c.812G= (p.Ser271=)
c.1325G= (p.Ser442=)
c.983G= (p.Ser328=)
c.1331G= (p.Ser444=)
c.1295G= (p.Ser432=)
c.475G=
c.23G= (p.Ser8=)
c.1385G= (p.Ser462=)
c.1289G= (p.Ser430=)
c.896G= (p.Ser299=)
c.1292G= (p.Ser431=)
c.323G= (p.Ser108=)
20g.63415013C>GCA409646626KCNQ2c.1361G>C (p.Ser454Thr)
c.1415G>C (p.Ser472Thr)
c.812G>C (p.Ser271Thr)
c.1325G>C (p.Ser442Thr)
c.983G>C (p.Ser328Thr)
c.1331G>C (p.Ser444Thr)
c.1295G>C (p.Ser432Thr)
c.475G>C
c.23G>C (p.Ser8Thr)
c.1385G>C (p.Ser462Thr)
c.1289G>C (p.Ser430Thr)
c.896G>C (p.Ser299Thr)
c.1292G>C (p.Ser431Thr)
c.323G>C (p.Ser108Thr)
20g.63415013C>TCA409646627KCNQ2c.1361G>A (p.Ser454Asn)
c.1415G>A (p.Ser472Asn)
c.812G>A (p.Ser271Asn)
c.1325G>A (p.Ser442Asn)
c.983G>A (p.Ser328Asn)
c.1331G>A (p.Ser444Asn)
c.1295G>A (p.Ser432Asn)
c.475G>A
c.23G>A (p.Ser8Asn)
c.1385G>A (p.Ser462Asn)
c.1289G>A (p.Ser430Asn)
c.896G>A (p.Ser299Asn)
c.1292G>A (p.Ser431Asn)
c.323G>A (p.Ser108Asn)
 dbSNP gnomAD v2 gnomAD v4
20g.63415014T>ACA409646629KCNQ2c.1360A>T (p.Ser454Cys)
c.1414A>T (p.Ser472Cys)
c.811A>T (p.Ser271Cys)
c.1324A>T (p.Ser442Cys)
c.982A>T (p.Ser328Cys)
c.1330A>T (p.Ser444Cys)
c.1294A>T (p.Ser432Cys)
c.474A>T
c.22A>T (p.Ser8Cys)
c.1384A>T (p.Ser462Cys)
c.1288A>T (p.Ser430Cys)
c.895A>T (p.Ser299Cys)
c.1291A>T (p.Ser431Cys)
c.322A>T (p.Ser108Cys)
 gnomAD v4 COSMIC
20g.63415014T>CCA409646630KCNQ2c.1360A>G (p.Ser454Gly)
c.1414A>G (p.Ser472Gly)
c.811A>G (p.Ser271Gly)
c.1324A>G (p.Ser442Gly)
c.982A>G (p.Ser328Gly)
c.1330A>G (p.Ser444Gly)
c.1294A>G (p.Ser432Gly)
c.474A>G
c.22A>G (p.Ser8Gly)
c.1384A>G (p.Ser462Gly)
c.1288A>G (p.Ser430Gly)
c.895A>G (p.Ser299Gly)
c.1291A>G (p.Ser431Gly)
c.322A>G (p.Ser108Gly)
 ClinVar
20g.63415014T>GCA409646632KCNQ2c.1360A>C (p.Ser454Arg)
c.1414A>C (p.Ser472Arg)
c.811A>C (p.Ser271Arg)
c.1324A>C (p.Ser442Arg)
c.982A>C (p.Ser328Arg)
c.1330A>C (p.Ser444Arg)
c.1294A>C (p.Ser432Arg)
c.474A>C
c.22A>C (p.Ser8Arg)
c.1384A>C (p.Ser462Arg)
c.1288A>C (p.Ser430Arg)
c.895A>C (p.Ser299Arg)
c.1291A>C (p.Ser431Arg)
c.322A>C (p.Ser108Arg)
20g.63415015C>ACA409646634KCNQ2c.1359G>T (p.Gln453His)
c.1413G>T (p.Gln471His)
c.810G>T (p.Gln270His)
c.1323G>T (p.Gln441His)
c.981G>T (p.Gln327His)
c.1329G>T (p.Gln443His)
c.1293G>T (p.Gln431His)
c.473G>T
c.21G>T (p.Gln7His)
c.1383G>T (p.Gln461His)
c.1287G>T (p.Gln429His)
c.894G>T (p.Gln298His)
c.1290G>T (p.Gln430His)
c.321G>T (p.Gln107His)
20g.63415015C=CA2374778810KCNQ2c.1359G= (p.Gln453=)
c.1413G= (p.Gln471=)
c.810G= (p.Gln270=)
c.1323G= (p.Gln441=)
c.981G= (p.Gln327=)
c.1329G= (p.Gln443=)
c.1293G= (p.Gln431=)
c.473G=
c.21G= (p.Gln7=)
c.1383G= (p.Gln461=)
c.1287G= (p.Gln429=)
c.894G= (p.Gln298=)
c.1290G= (p.Gln430=)
c.321G= (p.Gln107=)
20g.63415015C>GCA409646636KCNQ2c.1359G>C (p.Gln453His)
c.1413G>C (p.Gln471His)
c.810G>C (p.Gln270His)
c.1323G>C (p.Gln441His)
c.981G>C (p.Gln327His)
c.1329G>C (p.Gln443His)
c.1293G>C (p.Gln431His)
c.473G>C
c.21G>C (p.Gln7His)
c.1383G>C (p.Gln461His)
c.1287G>C (p.Gln429His)
c.894G>C (p.Gln298His)
c.1290G>C (p.Gln430His)
c.321G>C (p.Gln107His)
20g.63415015C>TCA317431041KCNQ2c.1359G>A (p.Gln453=)
c.1413G>A (p.Gln471=)
c.810G>A (p.Gln270=)
c.1323G>A (p.Gln441=)
c.981G>A (p.Gln327=)
c.1329G>A (p.Gln443=)
c.1293G>A (p.Gln431=)
c.473G>A
c.21G>A (p.Gln7=)
c.1383G>A (p.Gln461=)
c.1287G>A (p.Gln429=)
c.894G>A (p.Gln298=)
c.1290G>A (p.Gln430=)
c.321G>A (p.Gln107=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415016T>ACA409646638KCNQ2c.1358A>T (p.Gln453Leu)
c.1412A>T (p.Gln471Leu)
c.809A>T (p.Gln270Leu)
c.1322A>T (p.Gln441Leu)
c.980A>T (p.Gln327Leu)
c.1328A>T (p.Gln443Leu)
c.1292A>T (p.Gln431Leu)
c.472A>T
c.20A>T (p.Gln7Leu)
c.1382A>T (p.Gln461Leu)
c.1286A>T (p.Gln429Leu)
c.893A>T (p.Gln298Leu)
c.1289A>T (p.Gln430Leu)
c.320A>T (p.Gln107Leu)
20g.63415016T>CCA409646639KCNQ2c.1358A>G (p.Gln453Arg)
c.1412A>G (p.Gln471Arg)
c.809A>G (p.Gln270Arg)
c.1322A>G (p.Gln441Arg)
c.980A>G (p.Gln327Arg)
c.1328A>G (p.Gln443Arg)
c.1292A>G (p.Gln431Arg)
c.472A>G
c.20A>G (p.Gln7Arg)
c.1382A>G (p.Gln461Arg)
c.1286A>G (p.Gln429Arg)
c.893A>G (p.Gln298Arg)
c.1289A>G (p.Gln430Arg)
c.320A>G (p.Gln107Arg)
20g.63415016T>GCA409646641KCNQ2c.1358A>C (p.Gln453Pro)
c.1412A>C (p.Gln471Pro)
c.809A>C (p.Gln270Pro)
c.1322A>C (p.Gln441Pro)
c.980A>C (p.Gln327Pro)
c.1328A>C (p.Gln443Pro)
c.1292A>C (p.Gln431Pro)
c.472A>C
c.20A>C (p.Gln7Pro)
c.1382A>C (p.Gln461Pro)
c.1286A>C (p.Gln429Pro)
c.893A>C (p.Gln298Pro)
c.1289A>C (p.Gln430Pro)
c.320A>C (p.Gln107Pro)
20g.63415017G>ACA409646645KCNQ2c.1357C>T (p.Gln453Ter)
c.1411C>T (p.Gln471Ter)
c.808C>T (p.Gln270Ter)
c.1321C>T (p.Gln441Ter)
c.979C>T (p.Gln327Ter)
c.1327C>T (p.Gln443Ter)
c.1291C>T (p.Gln431Ter)
c.471C>T
c.19C>T (p.Gln7Ter)
c.1381C>T (p.Gln461Ter)
c.1285C>T (p.Gln429Ter)
c.892C>T (p.Gln298Ter)
c.1288C>T (p.Gln430Ter)
c.319C>T (p.Gln107Ter)
 ClinVar
20g.63415017G>CCA409646644KCNQ2c.1357C>G (p.Gln453Glu)
c.1411C>G (p.Gln471Glu)
c.808C>G (p.Gln270Glu)
c.1321C>G (p.Gln441Glu)
c.979C>G (p.Gln327Glu)
c.1327C>G (p.Gln443Glu)
c.1291C>G (p.Gln431Glu)
c.471C>G
c.19C>G (p.Gln7Glu)
c.1381C>G (p.Gln461Glu)
c.1285C>G (p.Gln429Glu)
c.892C>G (p.Gln298Glu)
c.1288C>G (p.Gln430Glu)
c.319C>G (p.Gln107Glu)
20g.63415017G>TCA409646643KCNQ2c.1357C>A (p.Gln453Lys)
c.1411C>A (p.Gln471Lys)
c.808C>A (p.Gln270Lys)
c.1321C>A (p.Gln441Lys)
c.979C>A (p.Gln327Lys)
c.1327C>A (p.Gln443Lys)
c.1291C>A (p.Gln431Lys)
c.471C>A
c.19C>A (p.Gln7Lys)
c.1381C>A (p.Gln461Lys)
c.1285C>A (p.Gln429Lys)
c.892C>A (p.Gln298Lys)
c.1288C>A (p.Gln430Lys)
c.319C>A (p.Gln107Lys)
20g.63415018G>ACA511339721KCNQ2c.1356C>T (p.Asp452=)
c.1410C>T (p.Asp470=)
c.807C>T (p.Asp269=)
c.1320C>T (p.Asp440=)
c.978C>T (p.Asp326=)
c.1326C>T (p.Asp442=)
c.1290C>T (p.Asp430=)
c.470C>T
c.18C>T (p.Asp6=)
c.1380C>T (p.Asp460=)
c.1284C>T (p.Asp428=)
c.891C>T (p.Asp297=)
c.1287C>T (p.Asp429=)
c.318C>T (p.Asp106=)
 gnomAD v4
20g.63415018G>CCA409646646KCNQ2c.1356C>G (p.Asp452Glu)
c.1410C>G (p.Asp470Glu)
c.807C>G (p.Asp269Glu)
c.1320C>G (p.Asp440Glu)
c.978C>G (p.Asp326Glu)
c.1326C>G (p.Asp442Glu)
c.1290C>G (p.Asp430Glu)
c.470C>G
c.18C>G (p.Asp6Glu)
c.1380C>G (p.Asp460Glu)
c.1284C>G (p.Asp428Glu)
c.891C>G (p.Asp297Glu)
c.1287C>G (p.Asp429Glu)
c.318C>G (p.Asp106Glu)
 ClinVar
20g.63415018G=CA2374778811KCNQ2c.1356C= (p.Asp452=)
c.1410C= (p.Asp470=)
c.807C= (p.Asp269=)
c.1320C= (p.Asp440=)
c.978C= (p.Asp326=)
c.1326C= (p.Asp442=)
c.1290C= (p.Asp430=)
c.470C=
c.18C= (p.Asp6=)
c.1380C= (p.Asp460=)
c.1284C= (p.Asp428=)
c.891C= (p.Asp297=)
c.1287C= (p.Asp429=)
c.318C= (p.Asp106=)
20g.63415018G>TCA409646647KCNQ2c.1356C>A (p.Asp452Glu)
c.1410C>A (p.Asp470Glu)
c.807C>A (p.Asp269Glu)
c.1320C>A (p.Asp440Glu)
c.978C>A (p.Asp326Glu)
c.1326C>A (p.Asp442Glu)
c.1290C>A (p.Asp430Glu)
c.470C>A
c.18C>A (p.Asp6Glu)
c.1380C>A (p.Asp460Glu)
c.1284C>A (p.Asp428Glu)
c.891C>A (p.Asp297Glu)
c.1287C>A (p.Asp429Glu)
c.318C>A (p.Asp106Glu)
 dbSNP
20g.63415019T>ACA409646648KCNQ2c.1355A>T (p.Asp452Val)
c.1409A>T (p.Asp470Val)
c.806A>T (p.Asp269Val)
c.1319A>T (p.Asp440Val)
c.977A>T (p.Asp326Val)
c.1325A>T (p.Asp442Val)
c.1289A>T (p.Asp430Val)
c.469A>T
c.17A>T (p.Asp6Val)
c.1379A>T (p.Asp460Val)
c.1283A>T (p.Asp428Val)
c.890A>T (p.Asp297Val)
c.1286A>T (p.Asp429Val)
c.317A>T (p.Asp106Val)
20g.63415019T>CCA409646650KCNQ2c.1355A>G (p.Asp452Gly)
c.1409A>G (p.Asp470Gly)
c.806A>G (p.Asp269Gly)
c.1319A>G (p.Asp440Gly)
c.977A>G (p.Asp326Gly)
c.1325A>G (p.Asp442Gly)
c.1289A>G (p.Asp430Gly)
c.469A>G
c.17A>G (p.Asp6Gly)
c.1379A>G (p.Asp460Gly)
c.1283A>G (p.Asp428Gly)
c.890A>G (p.Asp297Gly)
c.1286A>G (p.Asp429Gly)
c.317A>G (p.Asp106Gly)
 ClinVar dbSNP
20g.63415019T>GCA409646649KCNQ2c.1355A>C (p.Asp452Ala)
c.1409A>C (p.Asp470Ala)
c.806A>C (p.Asp269Ala)
c.1319A>C (p.Asp440Ala)
c.977A>C (p.Asp326Ala)
c.1325A>C (p.Asp442Ala)
c.1289A>C (p.Asp430Ala)
c.469A>C
c.17A>C (p.Asp6Ala)
c.1379A>C (p.Asp460Ala)
c.1283A>C (p.Asp428Ala)
c.890A>C (p.Asp297Ala)
c.1286A>C (p.Asp429Ala)
c.317A>C (p.Asp106Ala)
20g.63415020C>ACA409646651KCNQ2c.1354G>T (p.Asp452Tyr)
c.1408G>T (p.Asp470Tyr)
c.805G>T (p.Asp269Tyr)
c.1318G>T (p.Asp440Tyr)
c.976G>T (p.Asp326Tyr)
c.1324G>T (p.Asp442Tyr)
c.1288G>T (p.Asp430Tyr)
c.468G>T
c.16G>T (p.Asp6Tyr)
c.1378G>T (p.Asp460Tyr)
c.1282G>T (p.Asp428Tyr)
c.889G>T (p.Asp297Tyr)
c.1285G>T (p.Asp429Tyr)
c.316G>T (p.Asp106Tyr)
20g.63415020C=CA2374778812KCNQ2c.1354G= (p.Asp452=)
c.1408G= (p.Asp470=)
c.805G= (p.Asp269=)
c.1318G= (p.Asp440=)
c.976G= (p.Asp326=)
c.1324G= (p.Asp442=)
c.1288G= (p.Asp430=)
c.468G=
c.16G= (p.Asp6=)
c.1378G= (p.Asp460=)
c.1282G= (p.Asp428=)
c.889G= (p.Asp297=)
c.1285G= (p.Asp429=)
c.316G= (p.Asp106=)
20g.63415020C>GCA409646652KCNQ2c.1354G>C (p.Asp452His)
c.1408G>C (p.Asp470His)
c.805G>C (p.Asp269His)
c.1318G>C (p.Asp440His)
c.976G>C (p.Asp326His)
c.1324G>C (p.Asp442His)
c.1288G>C (p.Asp430His)
c.468G>C
c.16G>C (p.Asp6His)
c.1378G>C (p.Asp460His)
c.1282G>C (p.Asp428His)
c.889G>C (p.Asp297His)
c.1285G>C (p.Asp429His)
c.316G>C (p.Asp106His)
 ClinVar dbSNP
20g.63415020C>TCA9958459KCNQ2c.1354G>A (p.Asp452Asn)
c.1408G>A (p.Asp470Asn)
c.805G>A (p.Asp269Asn)
c.1318G>A (p.Asp440Asn)
c.976G>A (p.Asp326Asn)
c.1324G>A (p.Asp442Asn)
c.1288G>A (p.Asp430Asn)
c.468G>A
c.16G>A (p.Asp6Asn)
c.1378G>A (p.Asp460Asn)
c.1282G>A (p.Asp428Asn)
c.889G>A (p.Asp297Asn)
c.1285G>A (p.Asp429Asn)
c.316G>A (p.Asp106Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415021G>ACA9958460KCNQ2c.1353C>T (p.Ala451=)
c.1407C>T (p.Ala469=)
c.804C>T (p.Ala268=)
c.1317C>T (p.Ala439=)
c.975C>T (p.Ala325=)
c.1323C>T (p.Ala441=)
c.1287C>T (p.Ala429=)
c.467C>T
c.15C>T (p.Ala5=)
c.1377C>T (p.Ala459=)
c.1281C>T (p.Ala427=)
c.888C>T (p.Ala296=)
c.1284C>T (p.Ala428=)
c.315C>T (p.Ala105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63415021G>CCA511339724KCNQ2c.1353C>G (p.Ala451=)
c.1407C>G (p.Ala469=)
c.804C>G (p.Ala268=)
c.1317C>G (p.Ala439=)
c.975C>G (p.Ala325=)
c.1323C>G (p.Ala441=)
c.1287C>G (p.Ala429=)
c.467C>G
c.15C>G (p.Ala5=)
c.1377C>G (p.Ala459=)
c.1281C>G (p.Ala427=)
c.888C>G (p.Ala296=)
c.1284C>G (p.Ala428=)
c.315C>G (p.Ala105=)
20g.63415021G=CA2374778813KCNQ2c.1353C= (p.Ala451=)
c.1407C= (p.Ala469=)
c.804C= (p.Ala268=)
c.1317C= (p.Ala439=)
c.975C= (p.Ala325=)
c.1323C= (p.Ala441=)
c.1287C= (p.Ala429=)
c.467C=
c.15C= (p.Ala5=)
c.1377C= (p.Ala459=)
c.1281C= (p.Ala427=)
c.888C= (p.Ala296=)
c.1284C= (p.Ala428=)
c.315C= (p.Ala105=)
20g.63415021G>TCA511339726KCNQ2c.1353C>A (p.Ala451=)
c.1407C>A (p.Ala469=)
c.804C>A (p.Ala268=)
c.1317C>A (p.Ala439=)
c.975C>A (p.Ala325=)
c.1323C>A (p.Ala441=)
c.1287C>A (p.Ala429=)
c.467C>A
c.15C>A (p.Ala5=)
c.1377C>A (p.Ala459=)
c.1281C>A (p.Ala427=)
c.888C>A (p.Ala296=)
c.1284C>A (p.Ala428=)
c.315C>A (p.Ala105=)
20g.63415022G>ACA409646653KCNQ2c.1352C>T (p.Ala451Val)
c.1406C>T (p.Ala469Val)
c.803C>T (p.Ala268Val)
c.1316C>T (p.Ala439Val)
c.974C>T (p.Ala325Val)
c.1322C>T (p.Ala441Val)
c.1286C>T (p.Ala429Val)
c.466C>T
c.14C>T (p.Ala5Val)
c.1376C>T (p.Ala459Val)
c.1280C>T (p.Ala427Val)
c.887C>T (p.Ala296Val)
c.1283C>T (p.Ala428Val)
c.314C>T (p.Ala105Val)
20g.63415022G>CCA409646654KCNQ2c.1352C>G (p.Ala451Gly)
c.1406C>G (p.Ala469Gly)
c.803C>G (p.Ala268Gly)
c.1316C>G (p.Ala439Gly)
c.974C>G (p.Ala325Gly)
c.1322C>G (p.Ala441Gly)
c.1286C>G (p.Ala429Gly)
c.466C>G
c.14C>G (p.Ala5Gly)
c.1376C>G (p.Ala459Gly)
c.1280C>G (p.Ala427Gly)
c.887C>G (p.Ala296Gly)
c.1283C>G (p.Ala428Gly)
c.314C>G (p.Ala105Gly)
20g.63415022G>TCA409646655KCNQ2c.1352C>A (p.Ala451Asp)
c.1406C>A (p.Ala469Asp)
c.803C>A (p.Ala268Asp)
c.1316C>A (p.Ala439Asp)
c.974C>A (p.Ala325Asp)
c.1322C>A (p.Ala441Asp)
c.1286C>A (p.Ala429Asp)
c.466C>A
c.14C>A (p.Ala5Asp)
c.1376C>A (p.Ala459Asp)
c.1280C>A (p.Ala427Asp)
c.887C>A (p.Ala296Asp)
c.1283C>A (p.Ala428Asp)
c.314C>A (p.Ala105Asp)
20g.63415023C>ACA409646656KCNQ2c.1351G>T (p.Ala451Ser)
c.1405G>T (p.Ala469Ser)
c.802G>T (p.Ala268Ser)
c.1315G>T (p.Ala439Ser)
c.973G>T (p.Ala325Ser)
c.1321G>T (p.Ala441Ser)
c.1285G>T (p.Ala429Ser)
c.465G>T
c.13G>T (p.Ala5Ser)
c.1375G>T (p.Ala459Ser)
c.1279G>T (p.Ala427Ser)
c.886G>T (p.Ala296Ser)
c.1282G>T (p.Ala428Ser)
c.313G>T (p.Ala105Ser)
20g.63415023C=CA2374778814KCNQ2c.1351G= (p.Ala451=)
c.1405G= (p.Ala469=)
c.802G= (p.Ala268=)
c.1315G= (p.Ala439=)
c.973G= (p.Ala325=)
c.1321G= (p.Ala441=)
c.1285G= (p.Ala429=)
c.465G=
c.13G= (p.Ala5=)
c.1375G= (p.Ala459=)
c.1279G= (p.Ala427=)
c.886G= (p.Ala296=)
c.1282G= (p.Ala428=)
c.313G= (p.Ala105=)
20g.63415023C>GCA409646657KCNQ2c.1351G>C (p.Ala451Pro)
c.1405G>C (p.Ala469Pro)
c.802G>C (p.Ala268Pro)
c.1315G>C (p.Ala439Pro)
c.973G>C (p.Ala325Pro)
c.1321G>C (p.Ala441Pro)
c.1285G>C (p.Ala429Pro)
c.465G>C
c.13G>C (p.Ala5Pro)
c.1375G>C (p.Ala459Pro)
c.1279G>C (p.Ala427Pro)
c.886G>C (p.Ala296Pro)
c.1282G>C (p.Ala428Pro)
c.313G>C (p.Ala105Pro)
20g.63415023C>TCA315445KCNQ2c.1351G>A (p.Ala451Thr)
c.1405G>A (p.Ala469Thr)
c.802G>A (p.Ala268Thr)
c.1315G>A (p.Ala439Thr)
c.973G>A (p.Ala325Thr)
c.1321G>A (p.Ala441Thr)
c.1285G>A (p.Ala429Thr)
c.465G>A
c.13G>A (p.Ala5Thr)
c.1375G>A (p.Ala459Thr)
c.1279G>A (p.Ala427Thr)
c.886G>A (p.Ala296Thr)
c.1282G>A (p.Ala428Thr)
c.313G>A (p.Ala105Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63415024G>ACA9958461KCNQ2c.1350C>T (p.Ser450=)
c.1404C>T (p.Ser468=)
c.801C>T (p.Ser267=)
c.1314C>T (p.Ser438=)
c.972C>T (p.Ser324=)
c.1320C>T (p.Ser440=)
c.1284C>T (p.Ser428=)
c.464C>T
c.12C>T (p.Ser4=)
c.1374C>T (p.Ser458=)
c.1278C>T (p.Ser426=)
c.885C>T (p.Ser295=)
c.1281C>T (p.Ser427=)
c.312C>T (p.Ser104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415024G>CCA409646658KCNQ2c.1350C>G (p.Ser450Arg)
c.1404C>G (p.Ser468Arg)
c.801C>G (p.Ser267Arg)
c.1314C>G (p.Ser438Arg)
c.972C>G (p.Ser324Arg)
c.1320C>G (p.Ser440Arg)
c.1284C>G (p.Ser428Arg)
c.464C>G
c.12C>G (p.Ser4Arg)
c.1374C>G (p.Ser458Arg)
c.1278C>G (p.Ser426Arg)
c.885C>G (p.Ser295Arg)
c.1281C>G (p.Ser427Arg)
c.312C>G (p.Ser104Arg)
20g.63415024G=CA2374778815KCNQ2c.1350C= (p.Ser450=)
c.1404C= (p.Ser468=)
c.801C= (p.Ser267=)
c.1314C= (p.Ser438=)
c.972C= (p.Ser324=)
c.1320C= (p.Ser440=)
c.1284C= (p.Ser428=)
c.464C=
c.12C= (p.Ser4=)
c.1374C= (p.Ser458=)
c.1278C= (p.Ser426=)
c.885C= (p.Ser295=)
c.1281C= (p.Ser427=)
c.312C= (p.Ser104=)
20g.63415024G>TCA409646659KCNQ2c.1350C>A (p.Ser450Arg)
c.1404C>A (p.Ser468Arg)
c.801C>A (p.Ser267Arg)
c.1314C>A (p.Ser438Arg)
c.972C>A (p.Ser324Arg)
c.1320C>A (p.Ser440Arg)
c.1284C>A (p.Ser428Arg)
c.464C>A
c.12C>A (p.Ser4Arg)
c.1374C>A (p.Ser458Arg)
c.1278C>A (p.Ser426Arg)
c.885C>A (p.Ser295Arg)
c.1281C>A (p.Ser427Arg)
c.312C>A (p.Ser104Arg)
 gnomAD v4
20g.63415025C>ACA409646660KCNQ2c.1349G>T (p.Ser450Ile)
c.1403G>T (p.Ser468Ile)
c.800G>T (p.Ser267Ile)
c.1313G>T (p.Ser438Ile)
c.971G>T (p.Ser324Ile)
c.1319G>T (p.Ser440Ile)
c.1283G>T (p.Ser428Ile)
c.463G>T
c.11G>T (p.Ser4Ile)
c.1373G>T (p.Ser458Ile)
c.1277G>T (p.Ser426Ile)
c.884G>T (p.Ser295Ile)
c.1280G>T (p.Ser427Ile)
c.311G>T (p.Ser104Ile)
20g.63415025C>GCA409646662KCNQ2c.1349G>C (p.Ser450Thr)
c.1403G>C (p.Ser468Thr)
c.800G>C (p.Ser267Thr)
c.1313G>C (p.Ser438Thr)
c.971G>C (p.Ser324Thr)
c.1319G>C (p.Ser440Thr)
c.1283G>C (p.Ser428Thr)
c.463G>C
c.11G>C (p.Ser4Thr)
c.1373G>C (p.Ser458Thr)
c.1277G>C (p.Ser426Thr)
c.884G>C (p.Ser295Thr)
c.1280G>C (p.Ser427Thr)
c.311G>C (p.Ser104Thr)
20g.63415025C>TCA409646661KCNQ2c.1349G>A (p.Ser450Asn)
c.1403G>A (p.Ser468Asn)
c.800G>A (p.Ser267Asn)
c.1313G>A (p.Ser438Asn)
c.971G>A (p.Ser324Asn)
c.1319G>A (p.Ser440Asn)
c.1283G>A (p.Ser428Asn)
c.463G>A
c.11G>A (p.Ser4Asn)
c.1373G>A (p.Ser458Asn)
c.1277G>A (p.Ser426Asn)
c.884G>A (p.Ser295Asn)
c.1280G>A (p.Ser427Asn)
c.311G>A (p.Ser104Asn)
20g.63415025dupCA2697547458KCNQ2c.1349dup (p.Ser450ArgfsTer?)
c.1403dup (p.Ser468ArgfsTer?)
c.800dup (p.Ser267ArgfsTer?)
c.1313dup (p.Ser438ArgfsTer?)
c.971dup (p.Ser324ArgfsTer?)
c.1319dup (p.Ser440ArgfsTer?)
c.1283dup (p.Ser428ArgfsTer?)
c.463dup
c.11dup (p.Ser4ArgfsTer?)
c.1373dup (p.Ser458ArgfsTer?)
c.1277dup (p.Ser426ArgfsTer?)
c.884dup (p.Ser295ArgfsTer?)
c.1280dup (p.Ser427ArgfsTer?)
c.311dup (p.Ser104ArgfsTer?)
 ClinVar
20g.63415026T>ACA409646663KCNQ2c.1348A>T (p.Ser450Cys)
c.1402A>T (p.Ser468Cys)
c.799A>T (p.Ser267Cys)
c.1312A>T (p.Ser438Cys)
c.970A>T (p.Ser324Cys)
c.1318A>T (p.Ser440Cys)
c.1282A>T (p.Ser428Cys)
c.462A>T
c.10A>T (p.Ser4Cys)
c.1372A>T (p.Ser458Cys)
c.1276A>T (p.Ser426Cys)
c.883A>T (p.Ser295Cys)
c.1279A>T (p.Ser427Cys)
c.310A>T (p.Ser104Cys)
20g.63415026T>CCA409646664KCNQ2c.1348A>G (p.Ser450Gly)
c.1402A>G (p.Ser468Gly)
c.799A>G (p.Ser267Gly)
c.1312A>G (p.Ser438Gly)
c.970A>G (p.Ser324Gly)
c.1318A>G (p.Ser440Gly)
c.1282A>G (p.Ser428Gly)
c.462A>G
c.10A>G (p.Ser4Gly)
c.1372A>G (p.Ser458Gly)
c.1276A>G (p.Ser426Gly)
c.883A>G (p.Ser295Gly)
c.1279A>G (p.Ser427Gly)
c.310A>G (p.Ser104Gly)
20g.63415026T>GCA409646665KCNQ2c.1348A>C (p.Ser450Arg)
c.1402A>C (p.Ser468Arg)
c.799A>C (p.Ser267Arg)
c.1312A>C (p.Ser438Arg)
c.970A>C (p.Ser324Arg)
c.1318A>C (p.Ser440Arg)
c.1282A>C (p.Ser428Arg)
c.462A>C
c.10A>C (p.Ser4Arg)
c.1372A>C (p.Ser458Arg)
c.1276A>C (p.Ser426Arg)
c.883A>C (p.Ser295Arg)
c.1279A>C (p.Ser427Arg)
c.310A>C (p.Ser104Arg)
20g.63415027G>ACA511339731KCNQ2c.1347C>T (p.Pro449=)
c.1401C>T (p.Pro467=)
c.798C>T (p.Pro266=)
c.1311C>T (p.Pro437=)
c.969C>T (p.Pro323=)
c.1317C>T (p.Pro439=)
c.1281C>T (p.Pro427=)
c.461C>T
c.9C>T (p.Pro3=)
c.1371C>T (p.Pro457=)
c.1275C>T (p.Pro425=)
c.882C>T (p.Pro294=)
c.1278C>T (p.Pro426=)
c.309C>T (p.Pro103=)
 gnomAD v4
20g.63415027G>CCA511339730KCNQ2c.1347C>G (p.Pro449=)
c.1401C>G (p.Pro467=)
c.798C>G (p.Pro266=)
c.1311C>G (p.Pro437=)
c.969C>G (p.Pro323=)
c.1317C>G (p.Pro439=)
c.1281C>G (p.Pro427=)
c.461C>G
c.9C>G (p.Pro3=)
c.1371C>G (p.Pro457=)
c.1275C>G (p.Pro425=)
c.882C>G (p.Pro294=)
c.1278C>G (p.Pro426=)
c.309C>G (p.Pro103=)
20g.63415027G>TCA511339729KCNQ2c.1347C>A (p.Pro449=)
c.1401C>A (p.Pro467=)
c.798C>A (p.Pro266=)
c.1311C>A (p.Pro437=)
c.969C>A (p.Pro323=)
c.1317C>A (p.Pro439=)
c.1281C>A (p.Pro427=)
c.461C>A
c.9C>A (p.Pro3=)
c.1371C>A (p.Pro457=)
c.1275C>A (p.Pro425=)
c.882C>A (p.Pro294=)
c.1278C>A (p.Pro426=)
c.309C>A (p.Pro103=)
 COSMIC COSMIC COSMIC
20g.63415029delCA2741680547KCNQ2c.1347del (p.Ser450AlafsTer?)
c.1401del (p.Ser468AlafsTer?)
c.798del (p.Ser267AlafsTer?)
c.1311del (p.Ser438AlafsTer?)
c.969del (p.Ser324AlafsTer?)
c.1317del (p.Ser440AlafsTer?)
c.1281del (p.Ser428AlafsTer?)
c.461del
c.9del (p.Ser4AlafsTer?)
c.1371del (p.Ser458AlafsTer?)
c.1275del (p.Ser426AlafsTer?)
c.882del (p.Ser295AlafsTer?)
c.1278del (p.Ser427AlafsTer?)
c.309del (p.Ser104AlafsTer?)
20g.63415028G>ACA409646666KCNQ2c.1346C>T (p.Pro449Leu)
c.1400C>T (p.Pro467Leu)
c.797C>T (p.Pro266Leu)
c.1310C>T (p.Pro437Leu)
c.968C>T (p.Pro323Leu)
c.1316C>T (p.Pro439Leu)
c.1280C>T (p.Pro427Leu)
c.460C>T
c.8C>T (p.Pro3Leu)
c.1370C>T (p.Pro457Leu)
c.1274C>T (p.Pro425Leu)
c.881C>T (p.Pro294Leu)
c.1277C>T (p.Pro426Leu)
c.308C>T (p.Pro103Leu)
20g.63415028G>CCA409646667KCNQ2c.1346C>G (p.Pro449Arg)
c.1400C>G (p.Pro467Arg)
c.797C>G (p.Pro266Arg)
c.1310C>G (p.Pro437Arg)
c.968C>G (p.Pro323Arg)
c.1316C>G (p.Pro439Arg)
c.1280C>G (p.Pro427Arg)
c.460C>G
c.8C>G (p.Pro3Arg)
c.1370C>G (p.Pro457Arg)
c.1274C>G (p.Pro425Arg)
c.881C>G (p.Pro294Arg)
c.1277C>G (p.Pro426Arg)
c.308C>G (p.Pro103Arg)
20g.63415028G>TCA409646668KCNQ2c.1346C>A (p.Pro449His)
c.1400C>A (p.Pro467His)
c.797C>A (p.Pro266His)
c.1310C>A (p.Pro437His)
c.968C>A (p.Pro323His)
c.1316C>A (p.Pro439His)
c.1280C>A (p.Pro427His)
c.460C>A
c.8C>A (p.Pro3His)
c.1370C>A (p.Pro457His)
c.1274C>A (p.Pro425His)
c.881C>A (p.Pro294His)
c.1277C>A (p.Pro426His)
c.308C>A (p.Pro103His)
20g.63415029G>ACA409646669KCNQ2c.1345C>T (p.Pro449Ser)
c.1399C>T (p.Pro467Ser)
c.796C>T (p.Pro266Ser)
c.1309C>T (p.Pro437Ser)
c.967C>T (p.Pro323Ser)
c.1315C>T (p.Pro439Ser)
c.1279C>T (p.Pro427Ser)
c.459C>T
c.7C>T (p.Pro3Ser)
c.1369C>T (p.Pro457Ser)
c.1273C>T (p.Pro425Ser)
c.880C>T (p.Pro294Ser)
c.1276C>T (p.Pro426Ser)
c.307C>T (p.Pro103Ser)
20g.63415029G>CCA409646670KCNQ2c.1345C>G (p.Pro449Ala)
c.1399C>G (p.Pro467Ala)
c.796C>G (p.Pro266Ala)
c.1309C>G (p.Pro437Ala)
c.967C>G (p.Pro323Ala)
c.1315C>G (p.Pro439Ala)
c.1279C>G (p.Pro427Ala)
c.459C>G
c.7C>G (p.Pro3Ala)
c.1369C>G (p.Pro457Ala)
c.1273C>G (p.Pro425Ala)
c.880C>G (p.Pro294Ala)
c.1276C>G (p.Pro426Ala)
c.307C>G (p.Pro103Ala)
20g.63415029G>TCA409646671KCNQ2c.1345C>A (p.Pro449Thr)
c.1399C>A (p.Pro467Thr)
c.796C>A (p.Pro266Thr)
c.1309C>A (p.Pro437Thr)
c.967C>A (p.Pro323Thr)
c.1315C>A (p.Pro439Thr)
c.1279C>A (p.Pro427Thr)
c.459C>A
c.7C>A (p.Pro3Thr)
c.1369C>A (p.Pro457Thr)
c.1273C>A (p.Pro425Thr)
c.880C>A (p.Pro294Thr)
c.1276C>A (p.Pro426Thr)
c.307C>A (p.Pro103Thr)
20g.63415030T>ACA511339734KCNQ2c.1344A>T (p.Ser448=)
c.1398A>T (p.Ser466=)
c.795A>T (p.Ser265=)
c.1308A>T (p.Ser436=)
c.966A>T (p.Ser322=)
c.1314A>T (p.Ser438=)
c.1278A>T (p.Ser426=)
c.458A>T
c.6A>T (p.Ser2=)
c.1368A>T (p.Ser456=)
c.1272A>T (p.Ser424=)
c.879A>T (p.Ser293=)
c.1275A>T (p.Ser425=)
c.306A>T (p.Ser102=)
20g.63415030T>CCA511339735KCNQ2c.1344A>G (p.Ser448=)
c.1398A>G (p.Ser466=)
c.795A>G (p.Ser265=)
c.1308A>G (p.Ser436=)
c.966A>G (p.Ser322=)
c.1314A>G (p.Ser438=)
c.1278A>G (p.Ser426=)
c.458A>G
c.6A>G (p.Ser2=)
c.1368A>G (p.Ser456=)
c.1272A>G (p.Ser424=)
c.879A>G (p.Ser293=)
c.1275A>G (p.Ser425=)
c.306A>G (p.Ser102=)
20g.63415030T>GCA511339736KCNQ2c.1344A>C (p.Ser448=)
c.1398A>C (p.Ser466=)
c.795A>C (p.Ser265=)
c.1308A>C (p.Ser436=)
c.966A>C (p.Ser322=)
c.1314A>C (p.Ser438=)
c.1278A>C (p.Ser426=)
c.458A>C
c.6A>C (p.Ser2=)
c.1368A>C (p.Ser456=)
c.1272A>C (p.Ser424=)
c.879A>C (p.Ser293=)
c.1275A>C (p.Ser425=)
c.306A>C (p.Ser102=)
 dbSNP gnomAD v2 gnomAD v4
20g.63415030T=CA2374778816KCNQ2c.1344A= (p.Ser448=)
c.1398A= (p.Ser466=)
c.795A= (p.Ser265=)
c.1308A= (p.Ser436=)
c.966A= (p.Ser322=)
c.1314A= (p.Ser438=)
c.1278A= (p.Ser426=)
c.458A=
c.6A= (p.Ser2=)
c.1368A= (p.Ser456=)
c.1272A= (p.Ser424=)
c.879A= (p.Ser293=)
c.1275A= (p.Ser425=)
c.306A= (p.Ser102=)
20g.63415031G>ACA409646674KCNQ2c.1343C>T (p.Ser448Leu)
c.1397C>T (p.Ser466Leu)
c.794C>T (p.Ser265Leu)
c.1307C>T (p.Ser436Leu)
c.965C>T (p.Ser322Leu)
c.1313C>T (p.Ser438Leu)
c.1277C>T (p.Ser426Leu)
c.457C>T
c.5C>T (p.Ser2Leu)
c.1367C>T (p.Ser456Leu)
c.1271C>T (p.Ser424Leu)
c.878C>T (p.Ser293Leu)
c.1274C>T (p.Ser425Leu)
c.305C>T (p.Ser102Leu)
20g.63415031G>CCA409646673KCNQ2c.1343C>G (p.Ser448Ter)
c.1397C>G (p.Ser466Ter)
c.794C>G (p.Ser265Ter)
c.1307C>G (p.Ser436Ter)
c.965C>G (p.Ser322Ter)
c.1313C>G (p.Ser438Ter)
c.1277C>G (p.Ser426Ter)
c.457C>G
c.5C>G (p.Ser2Ter)
c.1367C>G (p.Ser456Ter)
c.1271C>G (p.Ser424Ter)
c.878C>G (p.Ser293Ter)
c.1274C>G (p.Ser425Ter)
c.305C>G (p.Ser102Ter)
20g.63415031G>TCA409646672KCNQ2c.1343C>A (p.Ser448Ter)
c.1397C>A (p.Ser466Ter)
c.794C>A (p.Ser265Ter)
c.1307C>A (p.Ser436Ter)
c.965C>A (p.Ser322Ter)
c.1313C>A (p.Ser438Ter)
c.1277C>A (p.Ser426Ter)
c.457C>A
c.5C>A (p.Ser2Ter)
c.1367C>A (p.Ser456Ter)
c.1271C>A (p.Ser424Ter)
c.878C>A (p.Ser293Ter)
c.1274C>A (p.Ser425Ter)
c.305C>A (p.Ser102Ter)
 gnomAD v4
20g.63415032A=CA2374778817KCNQ2c.1342T= (p.Ser448=)
c.1396T= (p.Ser466=)
c.793T= (p.Ser265=)
c.1306T= (p.Ser436=)
c.964T= (p.Ser322=)
c.1312T= (p.Ser438=)
c.1276T= (p.Ser426=)
c.456T=
c.4T= (p.Ser2=)
c.1366T= (p.Ser456=)
c.1270T= (p.Ser424=)
c.877T= (p.Ser293=)
c.1273T= (p.Ser425=)
c.304T= (p.Ser102=)
20g.63415032A>CCA409646675KCNQ2c.1342T>G (p.Ser448Ala)
c.1396T>G (p.Ser466Ala)
c.793T>G (p.Ser265Ala)
c.1306T>G (p.Ser436Ala)
c.964T>G (p.Ser322Ala)
c.1312T>G (p.Ser438Ala)
c.1276T>G (p.Ser426Ala)
c.456T>G
c.4T>G (p.Ser2Ala)
c.1366T>G (p.Ser456Ala)
c.1270T>G (p.Ser424Ala)
c.877T>G (p.Ser293Ala)
c.1273T>G (p.Ser425Ala)
c.304T>G (p.Ser102Ala)
 dbSNP
20g.63415032A>GCA409646676KCNQ2c.1342T>C (p.Ser448Pro)
c.1396T>C (p.Ser466Pro)
c.793T>C (p.Ser265Pro)
c.1306T>C (p.Ser436Pro)
c.964T>C (p.Ser322Pro)
c.1312T>C (p.Ser438Pro)
c.1276T>C (p.Ser426Pro)
c.456T>C
c.4T>C (p.Ser2Pro)
c.1366T>C (p.Ser456Pro)
c.1270T>C (p.Ser424Pro)
c.877T>C (p.Ser293Pro)
c.1273T>C (p.Ser425Pro)
c.304T>C (p.Ser102Pro)
20g.63415032A>TCA409646677KCNQ2c.1342T>A (p.Ser448Thr)
c.1396T>A (p.Ser466Thr)
c.793T>A (p.Ser265Thr)
c.1306T>A (p.Ser436Thr)
c.964T>A (p.Ser322Thr)
c.1312T>A (p.Ser438Thr)
c.1276T>A (p.Ser426Thr)
c.456T>A
c.4T>A (p.Ser2Thr)
c.1366T>A (p.Ser456Thr)
c.1270T>A (p.Ser424Thr)
c.877T>A (p.Ser293Thr)
c.1273T>A (p.Ser425Thr)
c.304T>A (p.Ser102Thr)

Number of alleles fetched