Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63414085_63414098delCA2573054904KCNQ2c.1569_1577+5del
c.1623_1631+5del
c.1020_1028+5del
c.1530_1538+5del
c.1191_1199+5del
c.1539_1547+5del
c.1503_1511+5del
c.231_239+5del
c.1620_1628+5del
c.1593_1601+5del
c.1497_1505+5del
c.1104_1112+5del
c.1566_1574+5del
c.1500_1508+5del
c.531_539+5del
 ClinVar dbSNP
20g.63414087C>ACA409645101KCNQ2c.1577+1G>T (n.1577+1G>T)
c.1631+1G>T (n.1631+1G>T)
c.1028+1G>T (n.1028+1G>T)
c.1538+1G>T (n.1538+1G>T)
c.1199+1G>T (n.1199+1G>T)
c.1547+1G>T (n.1547+1G>T)
c.1511+1G>T (n.1511+1G>T)
c.239+1G>T (n.239+1G>T)
c.1628+1G>T (n.1628+1G>T)
c.1601+1G>T (n.1601+1G>T)
c.1505+1G>T (n.1505+1G>T)
c.1112+1G>T (n.1112+1G>T)
c.1574+1G>T (n.1574+1G>T)
c.1508+1G>T (n.1508+1G>T)
c.539+1G>T (n.539+1G>T)
20g.63414087C=CA2374778281KCNQ2c.1577+1G= (n.1577+1G=)
c.1631+1G= (n.1631+1G=)
c.1028+1G= (n.1028+1G=)
c.1538+1G= (n.1538+1G=)
c.1199+1G= (n.1199+1G=)
c.1547+1G= (n.1547+1G=)
c.1511+1G= (n.1511+1G=)
c.239+1G= (n.239+1G=)
c.1628+1G= (n.1628+1G=)
c.1601+1G= (n.1601+1G=)
c.1505+1G= (n.1505+1G=)
c.1112+1G= (n.1112+1G=)
c.1574+1G= (n.1574+1G=)
c.1508+1G= (n.1508+1G=)
c.539+1G= (n.539+1G=)
20g.63414087C>GCA409645103KCNQ2c.1577+1G>C (n.1577+1G>C)
c.1631+1G>C (n.1631+1G>C)
c.1028+1G>C (n.1028+1G>C)
c.1538+1G>C (n.1538+1G>C)
c.1199+1G>C (n.1199+1G>C)
c.1547+1G>C (n.1547+1G>C)
c.1511+1G>C (n.1511+1G>C)
c.239+1G>C (n.239+1G>C)
c.1628+1G>C (n.1628+1G>C)
c.1601+1G>C (n.1601+1G>C)
c.1505+1G>C (n.1505+1G>C)
c.1112+1G>C (n.1112+1G>C)
c.1574+1G>C (n.1574+1G>C)
c.1508+1G>C (n.1508+1G>C)
c.539+1G>C (n.539+1G>C)
20g.63414087C>TCA10654785KCNQ2c.1577+1G>A (n.1577+1G>A)
c.1631+1G>A (n.1631+1G>A)
c.1028+1G>A (n.1028+1G>A)
c.1538+1G>A (n.1538+1G>A)
c.1199+1G>A (n.1199+1G>A)
c.1547+1G>A (n.1547+1G>A)
c.1511+1G>A (n.1511+1G>A)
c.239+1G>A (n.239+1G>A)
c.1628+1G>A (n.1628+1G>A)
c.1601+1G>A (n.1601+1G>A)
c.1505+1G>A (n.1505+1G>A)
c.1112+1G>A (n.1112+1G>A)
c.1574+1G>A (n.1574+1G>A)
c.1508+1G>A (n.1508+1G>A)
c.539+1G>A (n.539+1G>A)
 ClinVar dbSNP
20g.63414088C>ACA409645109KCNQ2c.1577G>T (p.Cys526Phe)
c.1631G>T (p.Cys544Phe)
c.1028G>T (p.Cys343Phe)
c.1538G>T (p.Cys513Phe)
c.1199G>T (p.Cys400Phe)
c.1547G>T (p.Cys516Phe)
c.1511G>T (p.Cys504Phe)
c.688G>T
c.239G>T (p.Cys80Phe)
c.1628G>T (p.Cys543Phe)
c.1601G>T (p.Cys534Phe)
c.1505G>T (p.Cys502Phe)
c.1112G>T (p.Cys371Phe)
c.1574G>T (p.Cys525Phe)
c.1508G>T (p.Cys503Phe)
c.539G>T (p.Cys180Phe)
20g.63414088C=CA2374778282KCNQ2c.1577G= (p.Cys526=)
c.1631G= (p.Cys544=)
c.1028G= (p.Cys343=)
c.1538G= (p.Cys513=)
c.1199G= (p.Cys400=)
c.1547G= (p.Cys516=)
c.1511G= (p.Cys504=)
c.688G=
c.239G= (p.Cys80=)
c.1628G= (p.Cys543=)
c.1601G= (p.Cys534=)
c.1505G= (p.Cys502=)
c.1112G= (p.Cys371=)
c.1574G= (p.Cys525=)
c.1508G= (p.Cys503=)
c.539G= (p.Cys180=)
20g.63414088C>GCA409645111KCNQ2c.1577G>C (p.Cys526Ser)
c.1631G>C (p.Cys544Ser)
c.1028G>C (p.Cys343Ser)
c.1538G>C (p.Cys513Ser)
c.1199G>C (p.Cys400Ser)
c.1547G>C (p.Cys516Ser)
c.1511G>C (p.Cys504Ser)
c.688G>C
c.239G>C (p.Cys80Ser)
c.1628G>C (p.Cys543Ser)
c.1601G>C (p.Cys534Ser)
c.1505G>C (p.Cys502Ser)
c.1112G>C (p.Cys371Ser)
c.1574G>C (p.Cys525Ser)
c.1508G>C (p.Cys503Ser)
c.539G>C (p.Cys180Ser)
 ClinVar dbSNP
20g.63414088C>TCA16043222KCNQ2c.1577G>A (p.Cys526Tyr)
c.1631G>A (p.Cys544Tyr)
c.1028G>A (p.Cys343Tyr)
c.1538G>A (p.Cys513Tyr)
c.1199G>A (p.Cys400Tyr)
c.1547G>A (p.Cys516Tyr)
c.1511G>A (p.Cys504Tyr)
c.688G>A
c.239G>A (p.Cys80Tyr)
c.1628G>A (p.Cys543Tyr)
c.1601G>A (p.Cys534Tyr)
c.1505G>A (p.Cys502Tyr)
c.1112G>A (p.Cys371Tyr)
c.1574G>A (p.Cys525Tyr)
c.1508G>A (p.Cys503Tyr)
c.539G>A (p.Cys180Tyr)
 ClinVar dbSNP
20g.63414088_63414089insGAGATCTCA1019277479KCNQ2c.1576_1577insAGATCTC (p.Cys526Ter)
c.1630_1631insAGATCTC (p.Cys544Ter)
c.1027_1028insAGATCTC (p.Cys343Ter)
c.1537_1538insAGATCTC (p.Cys513Ter)
c.1198_1199insAGATCTC (p.Cys400Ter)
c.1546_1547insAGATCTC (p.Cys516Ter)
c.1510_1511insAGATCTC (p.Cys504Ter)
c.687_688insAGATCTC
c.238_239insAGATCTC (p.Cys80Ter)
c.1627_1628insAGATCTC (p.Cys543Ter)
c.1600_1601insAGATCTC (p.Cys534Ter)
c.1504_1505insAGATCTC (p.Cys502Ter)
c.1111_1112insAGATCTC (p.Cys371Ter)
c.1573_1574insAGATCTC (p.Cys525Ter)
c.1507_1508insAGATCTC (p.Cys503Ter)
c.538_539insAGATCTC (p.Cys180Ter)
 gnomAD v3 gnomAD v4
20g.63414089delCA2577453464KCNQ2c.1576del (p.Cys526ValfsTer21)
c.1630del (p.Cys544ValfsTer21)
c.1027del (p.Cys343ValfsTer21)
c.1537del (p.Cys513ValfsTer21)
c.1198del (p.Cys400ValfsTer21)
c.1546del (p.Cys516ValfsTer21)
c.1510del (p.Cys504ValfsTer21)
c.687del
c.238del (p.Cys80ValfsTer21)
c.1627del (p.Cys543ValfsTer21)
c.1600del (p.Cys534ValfsTer21)
c.1504del (p.Cys502ValfsTer21)
c.1111del (p.Cys371ValfsTer21)
c.1573del (p.Cys525ValfsTer21)
c.1507del (p.Cys503ValfsTer21)
c.538del (p.Cys180ValfsTer21)
20g.63414089A=CA2374778283KCNQ2c.1576T= (p.Cys526=)
c.1630T= (p.Cys544=)
c.1027T= (p.Cys343=)
c.1537T= (p.Cys513=)
c.1198T= (p.Cys400=)
c.1546T= (p.Cys516=)
c.1510T= (p.Cys504=)
c.687T=
c.238T= (p.Cys80=)
c.1627T= (p.Cys543=)
c.1600T= (p.Cys534=)
c.1504T= (p.Cys502=)
c.1111T= (p.Cys371=)
c.1573T= (p.Cys525=)
c.1507T= (p.Cys503=)
c.538T= (p.Cys180=)
20g.63414089A>CCA317429624KCNQ2c.1576T>G (p.Cys526Gly)
c.1630T>G (p.Cys544Gly)
c.1027T>G (p.Cys343Gly)
c.1537T>G (p.Cys513Gly)
c.1198T>G (p.Cys400Gly)
c.1546T>G (p.Cys516Gly)
c.1510T>G (p.Cys504Gly)
c.687T>G
c.238T>G (p.Cys80Gly)
c.1627T>G (p.Cys543Gly)
c.1600T>G (p.Cys534Gly)
c.1504T>G (p.Cys502Gly)
c.1111T>G (p.Cys371Gly)
c.1573T>G (p.Cys525Gly)
c.1507T>G (p.Cys503Gly)
c.538T>G (p.Cys180Gly)
 dbSNP
20g.63414089A>GCA409645118KCNQ2c.1576T>C (p.Cys526Arg)
c.1630T>C (p.Cys544Arg)
c.1027T>C (p.Cys343Arg)
c.1537T>C (p.Cys513Arg)
c.1198T>C (p.Cys400Arg)
c.1546T>C (p.Cys516Arg)
c.1510T>C (p.Cys504Arg)
c.687T>C
c.238T>C (p.Cys80Arg)
c.1627T>C (p.Cys543Arg)
c.1600T>C (p.Cys534Arg)
c.1504T>C (p.Cys502Arg)
c.1111T>C (p.Cys371Arg)
c.1573T>C (p.Cys525Arg)
c.1507T>C (p.Cys503Arg)
c.538T>C (p.Cys180Arg)
 ClinVar dbSNP
20g.63414089A>TCA317429631KCNQ2c.1576T>A (p.Cys526Ser)
c.1630T>A (p.Cys544Ser)
c.1027T>A (p.Cys343Ser)
c.1537T>A (p.Cys513Ser)
c.1198T>A (p.Cys400Ser)
c.1546T>A (p.Cys516Ser)
c.1510T>A (p.Cys504Ser)
c.687T>A
c.238T>A (p.Cys80Ser)
c.1627T>A (p.Cys543Ser)
c.1600T>A (p.Cys534Ser)
c.1504T>A (p.Cys502Ser)
c.1111T>A (p.Cys371Ser)
c.1573T>A (p.Cys525Ser)
c.1507T>A (p.Cys503Ser)
c.538T>A (p.Cys180Ser)
 dbSNP
20g.63414090C>ACA511203847KCNQ2c.1575G>T (p.Val525=)
c.1629G>T (p.Val543=)
c.1026G>T (p.Val342=)
c.1536G>T (p.Val512=)
c.1197G>T (p.Val399=)
c.1545G>T (p.Val515=)
c.1509G>T (p.Val503=)
c.686G>T
c.237G>T (p.Val79=)
c.1626G>T (p.Val542=)
c.1599G>T (p.Val533=)
c.1503G>T (p.Val501=)
c.1110G>T (p.Val370=)
c.1572G>T (p.Val524=)
c.1506G>T (p.Val502=)
c.537G>T (p.Val179=)
20g.63414090C>GCA511203848KCNQ2c.1575G>C (p.Val525=)
c.1629G>C (p.Val543=)
c.1026G>C (p.Val342=)
c.1536G>C (p.Val512=)
c.1197G>C (p.Val399=)
c.1545G>C (p.Val515=)
c.1509G>C (p.Val503=)
c.686G>C
c.237G>C (p.Val79=)
c.1626G>C (p.Val542=)
c.1599G>C (p.Val533=)
c.1503G>C (p.Val501=)
c.1110G>C (p.Val370=)
c.1572G>C (p.Val524=)
c.1506G>C (p.Val502=)
c.537G>C (p.Val179=)
20g.63414090C>TCA511203849KCNQ2c.1575G>A (p.Val525=)
c.1629G>A (p.Val543=)
c.1026G>A (p.Val342=)
c.1536G>A (p.Val512=)
c.1197G>A (p.Val399=)
c.1545G>A (p.Val515=)
c.1509G>A (p.Val503=)
c.686G>A
c.237G>A (p.Val79=)
c.1626G>A (p.Val542=)
c.1599G>A (p.Val533=)
c.1503G>A (p.Val501=)
c.1110G>A (p.Val370=)
c.1572G>A (p.Val524=)
c.1506G>A (p.Val502=)
c.537G>A (p.Val179=)
20g.63414091A>CCA409645121KCNQ2c.1574T>G (p.Val525Gly)
c.1628T>G (p.Val543Gly)
c.1025T>G (p.Val342Gly)
c.1535T>G (p.Val512Gly)
c.1196T>G (p.Val399Gly)
c.1544T>G (p.Val515Gly)
c.1508T>G (p.Val503Gly)
c.685T>G
c.236T>G (p.Val79Gly)
c.1625T>G (p.Val542Gly)
c.1598T>G (p.Val533Gly)
c.1502T>G (p.Val501Gly)
c.1109T>G (p.Val370Gly)
c.1571T>G (p.Val524Gly)
c.1505T>G (p.Val502Gly)
c.536T>G (p.Val179Gly)
20g.63414091A>GCA409645122KCNQ2c.1574T>C (p.Val525Ala)
c.1628T>C (p.Val543Ala)
c.1025T>C (p.Val342Ala)
c.1535T>C (p.Val512Ala)
c.1196T>C (p.Val399Ala)
c.1544T>C (p.Val515Ala)
c.1508T>C (p.Val503Ala)
c.685T>C
c.236T>C (p.Val79Ala)
c.1625T>C (p.Val542Ala)
c.1598T>C (p.Val533Ala)
c.1502T>C (p.Val501Ala)
c.1109T>C (p.Val370Ala)
c.1571T>C (p.Val524Ala)
c.1505T>C (p.Val502Ala)
c.536T>C (p.Val179Ala)
20g.63414091A>TCA409645123KCNQ2c.1574T>A (p.Val525Glu)
c.1628T>A (p.Val543Glu)
c.1025T>A (p.Val342Glu)
c.1535T>A (p.Val512Glu)
c.1196T>A (p.Val399Glu)
c.1544T>A (p.Val515Glu)
c.1508T>A (p.Val503Glu)
c.685T>A
c.236T>A (p.Val79Glu)
c.1625T>A (p.Val542Glu)
c.1598T>A (p.Val533Glu)
c.1502T>A (p.Val501Glu)
c.1109T>A (p.Val370Glu)
c.1571T>A (p.Val524Glu)
c.1505T>A (p.Val502Glu)
c.536T>A (p.Val179Glu)
20g.63414092C>ACA409645126KCNQ2c.1573G>T (p.Val525Leu)
c.1627G>T (p.Val543Leu)
c.1024G>T (p.Val342Leu)
c.1534G>T (p.Val512Leu)
c.1195G>T (p.Val399Leu)
c.1543G>T (p.Val515Leu)
c.1507G>T (p.Val503Leu)
c.684G>T
c.235G>T (p.Val79Leu)
c.1624G>T (p.Val542Leu)
c.1597G>T (p.Val533Leu)
c.1501G>T (p.Val501Leu)
c.1108G>T (p.Val370Leu)
c.1570G>T (p.Val524Leu)
c.1504G>T (p.Val502Leu)
c.535G>T (p.Val179Leu)
20g.63414092C=CA2374778284KCNQ2c.1573G= (p.Val525=)
c.1627G= (p.Val543=)
c.1024G= (p.Val342=)
c.1534G= (p.Val512=)
c.1195G= (p.Val399=)
c.1543G= (p.Val515=)
c.1507G= (p.Val503=)
c.684G=
c.235G= (p.Val79=)
c.1624G= (p.Val542=)
c.1597G= (p.Val533=)
c.1501G= (p.Val501=)
c.1108G= (p.Val370=)
c.1570G= (p.Val524=)
c.1504G= (p.Val502=)
c.535G= (p.Val179=)
20g.63414092C>GCA409645131KCNQ2c.1573G>C (p.Val525Leu)
c.1627G>C (p.Val543Leu)
c.1024G>C (p.Val342Leu)
c.1534G>C (p.Val512Leu)
c.1195G>C (p.Val399Leu)
c.1543G>C (p.Val515Leu)
c.1507G>C (p.Val503Leu)
c.684G>C
c.235G>C (p.Val79Leu)
c.1624G>C (p.Val542Leu)
c.1597G>C (p.Val533Leu)
c.1501G>C (p.Val501Leu)
c.1108G>C (p.Val370Leu)
c.1570G>C (p.Val524Leu)
c.1504G>C (p.Val502Leu)
c.535G>C (p.Val179Leu)
20g.63414092C>TCA240402KCNQ2c.1573G>A (p.Val525Met)
c.1627G>A (p.Val543Met)
c.1024G>A (p.Val342Met)
c.1534G>A (p.Val512Met)
c.1195G>A (p.Val399Met)
c.1543G>A (p.Val515Met)
c.1507G>A (p.Val503Met)
c.684G>A
c.235G>A (p.Val79Met)
c.1624G>A (p.Val542Met)
c.1597G>A (p.Val533Met)
c.1501G>A (p.Val501Met)
c.1108G>A (p.Val370Met)
c.1570G>A (p.Val524Met)
c.1504G>A (p.Val502Met)
c.535G>A (p.Val179Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414093G>ACA511203850KCNQ2c.1572C>T (p.Ala524=)
c.1626C>T (p.Ala542=)
c.1023C>T (p.Ala341=)
c.1533C>T (p.Ala511=)
c.1194C>T (p.Ala398=)
c.1542C>T (p.Ala514=)
c.1506C>T (p.Ala502=)
c.683C>T
c.234C>T (p.Ala78=)
c.1623C>T (p.Ala541=)
c.1596C>T (p.Ala532=)
c.1500C>T (p.Ala500=)
c.1107C>T (p.Ala369=)
c.1569C>T (p.Ala523=)
c.1503C>T (p.Ala501=)
c.534C>T (p.Ala178=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63414093G>CCA9958394KCNQ2c.1572C>G (p.Ala524=)
c.1626C>G (p.Ala542=)
c.1023C>G (p.Ala341=)
c.1533C>G (p.Ala511=)
c.1194C>G (p.Ala398=)
c.1542C>G (p.Ala514=)
c.1506C>G (p.Ala502=)
c.683C>G
c.234C>G (p.Ala78=)
c.1623C>G (p.Ala541=)
c.1596C>G (p.Ala532=)
c.1500C>G (p.Ala500=)
c.1107C>G (p.Ala369=)
c.1569C>G (p.Ala523=)
c.1503C>G (p.Ala501=)
c.534C>G (p.Ala178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414093G=CA2374778285KCNQ2c.1572C= (p.Ala524=)
c.1626C= (p.Ala542=)
c.1023C= (p.Ala341=)
c.1533C= (p.Ala511=)
c.1194C= (p.Ala398=)
c.1542C= (p.Ala514=)
c.1506C= (p.Ala502=)
c.683C=
c.234C= (p.Ala78=)
c.1623C= (p.Ala541=)
c.1596C= (p.Ala532=)
c.1500C= (p.Ala500=)
c.1107C= (p.Ala369=)
c.1569C= (p.Ala523=)
c.1503C= (p.Ala501=)
c.534C= (p.Ala178=)
20g.63414093G>TCA511203851KCNQ2c.1572C>A (p.Ala524=)
c.1626C>A (p.Ala542=)
c.1023C>A (p.Ala341=)
c.1533C>A (p.Ala511=)
c.1194C>A (p.Ala398=)
c.1542C>A (p.Ala514=)
c.1506C>A (p.Ala502=)
c.683C>A
c.234C>A (p.Ala78=)
c.1623C>A (p.Ala541=)
c.1596C>A (p.Ala532=)
c.1500C>A (p.Ala500=)
c.1107C>A (p.Ala369=)
c.1569C>A (p.Ala523=)
c.1503C>A (p.Ala501=)
c.534C>A (p.Ala178=)
20g.63414094G>ACA315567KCNQ2c.1571C>T (p.Ala524Val)
c.1625C>T (p.Ala542Val)
c.1022C>T (p.Ala341Val)
c.1532C>T (p.Ala511Val)
c.1193C>T (p.Ala398Val)
c.1541C>T (p.Ala514Val)
c.1505C>T (p.Ala502Val)
c.682C>T
c.233C>T (p.Ala78Val)
c.1622C>T (p.Ala541Val)
c.1595C>T (p.Ala532Val)
c.1499C>T (p.Ala500Val)
c.1106C>T (p.Ala369Val)
c.1568C>T (p.Ala523Val)
c.1502C>T (p.Ala501Val)
c.533C>T (p.Ala178Val)
 ClinVar dbSNP
20g.63414094G>CCA315452KCNQ2c.1571C>G (p.Ala524Gly)
c.1625C>G (p.Ala542Gly)
c.1022C>G (p.Ala341Gly)
c.1532C>G (p.Ala511Gly)
c.1193C>G (p.Ala398Gly)
c.1541C>G (p.Ala514Gly)
c.1505C>G (p.Ala502Gly)
c.682C>G
c.233C>G (p.Ala78Gly)
c.1622C>G (p.Ala541Gly)
c.1595C>G (p.Ala532Gly)
c.1499C>G (p.Ala500Gly)
c.1106C>G (p.Ala369Gly)
c.1568C>G (p.Ala523Gly)
c.1502C>G (p.Ala501Gly)
c.533C>G (p.Ala178Gly)
 dbSNP
20g.63414094G=CA2374778286KCNQ2c.1571C= (p.Ala524=)
c.1625C= (p.Ala542=)
c.1022C= (p.Ala341=)
c.1532C= (p.Ala511=)
c.1193C= (p.Ala398=)
c.1541C= (p.Ala514=)
c.1505C= (p.Ala502=)
c.682C=
c.233C= (p.Ala78=)
c.1622C= (p.Ala541=)
c.1595C= (p.Ala532=)
c.1499C= (p.Ala500=)
c.1106C= (p.Ala369=)
c.1568C= (p.Ala523=)
c.1502C= (p.Ala501=)
c.533C= (p.Ala178=)
20g.63414094G>TCA409645136KCNQ2c.1571C>A (p.Ala524Asp)
c.1625C>A (p.Ala542Asp)
c.1022C>A (p.Ala341Asp)
c.1532C>A (p.Ala511Asp)
c.1193C>A (p.Ala398Asp)
c.1541C>A (p.Ala514Asp)
c.1505C>A (p.Ala502Asp)
c.682C>A
c.233C>A (p.Ala78Asp)
c.1622C>A (p.Ala541Asp)
c.1595C>A (p.Ala532Asp)
c.1499C>A (p.Ala500Asp)
c.1106C>A (p.Ala369Asp)
c.1568C>A (p.Ala523Asp)
c.1502C>A (p.Ala501Asp)
c.533C>A (p.Ala178Asp)
20g.63414095C>ACA409645138KCNQ2c.1570G>T (p.Ala524Ser)
c.1624G>T (p.Ala542Ser)
c.1021G>T (p.Ala341Ser)
c.1531G>T (p.Ala511Ser)
c.1192G>T (p.Ala398Ser)
c.1540G>T (p.Ala514Ser)
c.1504G>T (p.Ala502Ser)
c.681G>T
c.232G>T (p.Ala78Ser)
c.1621G>T (p.Ala541Ser)
c.1594G>T (p.Ala532Ser)
c.1498G>T (p.Ala500Ser)
c.1105G>T (p.Ala369Ser)
c.1567G>T (p.Ala523Ser)
c.1501G>T (p.Ala501Ser)
c.532G>T (p.Ala178Ser)
20g.63414095C>GCA409645140KCNQ2c.1570G>C (p.Ala524Pro)
c.1624G>C (p.Ala542Pro)
c.1021G>C (p.Ala341Pro)
c.1531G>C (p.Ala511Pro)
c.1192G>C (p.Ala398Pro)
c.1540G>C (p.Ala514Pro)
c.1504G>C (p.Ala502Pro)
c.681G>C
c.232G>C (p.Ala78Pro)
c.1621G>C (p.Ala541Pro)
c.1594G>C (p.Ala532Pro)
c.1498G>C (p.Ala500Pro)
c.1105G>C (p.Ala369Pro)
c.1567G>C (p.Ala523Pro)
c.1501G>C (p.Ala501Pro)
c.532G>C (p.Ala178Pro)
20g.63414095C>TCA409645141KCNQ2c.1570G>A (p.Ala524Thr)
c.1624G>A (p.Ala542Thr)
c.1021G>A (p.Ala341Thr)
c.1531G>A (p.Ala511Thr)
c.1192G>A (p.Ala398Thr)
c.1540G>A (p.Ala514Thr)
c.1504G>A (p.Ala502Thr)
c.681G>A
c.232G>A (p.Ala78Thr)
c.1621G>A (p.Ala541Thr)
c.1594G>A (p.Ala532Thr)
c.1498G>A (p.Ala500Thr)
c.1105G>A (p.Ala369Thr)
c.1567G>A (p.Ala523Thr)
c.1501G>A (p.Ala501Thr)
c.532G>A (p.Ala178Thr)
 ClinVar
20g.63414096T>ACA409645142KCNQ2c.1569A>T (p.Arg523Ser)
c.1623A>T (p.Arg541Ser)
c.1020A>T (p.Arg340Ser)
c.1530A>T (p.Arg510Ser)
c.1191A>T (p.Arg397Ser)
c.1539A>T (p.Arg513Ser)
c.1503A>T (p.Arg501Ser)
c.680A>T
c.231A>T (p.Arg77Ser)
c.1620A>T (p.Arg540Ser)
c.1593A>T (p.Arg531Ser)
c.1497A>T (p.Arg499Ser)
c.1104A>T (p.Arg368Ser)
c.1566A>T (p.Arg522Ser)
c.1500A>T (p.Arg500Ser)
c.531A>T (p.Arg177Ser)
20g.63414096T>CCA511203853KCNQ2c.1569A>G (p.Arg523=)
c.1623A>G (p.Arg541=)
c.1020A>G (p.Arg340=)
c.1530A>G (p.Arg510=)
c.1191A>G (p.Arg397=)
c.1539A>G (p.Arg513=)
c.1503A>G (p.Arg501=)
c.680A>G
c.231A>G (p.Arg77=)
c.1620A>G (p.Arg540=)
c.1593A>G (p.Arg531=)
c.1497A>G (p.Arg499=)
c.1104A>G (p.Arg368=)
c.1566A>G (p.Arg522=)
c.1500A>G (p.Arg500=)
c.531A>G (p.Arg177=)
20g.63414096T>GCA409645143KCNQ2c.1569A>C (p.Arg523Ser)
c.1623A>C (p.Arg541Ser)
c.1020A>C (p.Arg340Ser)
c.1530A>C (p.Arg510Ser)
c.1191A>C (p.Arg397Ser)
c.1539A>C (p.Arg513Ser)
c.1503A>C (p.Arg501Ser)
c.680A>C
c.231A>C (p.Arg77Ser)
c.1620A>C (p.Arg540Ser)
c.1593A>C (p.Arg531Ser)
c.1497A>C (p.Arg499Ser)
c.1104A>C (p.Arg368Ser)
c.1566A>C (p.Arg522Ser)
c.1500A>C (p.Arg500Ser)
c.531A>C (p.Arg177Ser)
20g.63414097C>ACA409645145KCNQ2c.1568G>T (p.Arg523Ile)
c.1622G>T (p.Arg541Ile)
c.1019G>T (p.Arg340Ile)
c.1529G>T (p.Arg510Ile)
c.1190G>T (p.Arg397Ile)
c.1538G>T (p.Arg513Ile)
c.1502G>T (p.Arg501Ile)
c.679G>T
c.230G>T (p.Arg77Ile)
c.1619G>T (p.Arg540Ile)
c.1592G>T (p.Arg531Ile)
c.1496G>T (p.Arg499Ile)
c.1103G>T (p.Arg368Ile)
c.1565G>T (p.Arg522Ile)
c.1499G>T (p.Arg500Ile)
c.530G>T (p.Arg177Ile)
20g.63414097C=CA2374778287KCNQ2c.1568G= (p.Arg523=)
c.1622G= (p.Arg541=)
c.1019G= (p.Arg340=)
c.1529G= (p.Arg510=)
c.1190G= (p.Arg397=)
c.1538G= (p.Arg513=)
c.1502G= (p.Arg501=)
c.679G=
c.230G= (p.Arg77=)
c.1619G= (p.Arg540=)
c.1592G= (p.Arg531=)
c.1496G= (p.Arg499=)
c.1103G= (p.Arg368=)
c.1565G= (p.Arg522=)
c.1499G= (p.Arg500=)
c.530G= (p.Arg177=)
20g.63414097C>GCA409645148KCNQ2c.1568G>C (p.Arg523Thr)
c.1622G>C (p.Arg541Thr)
c.1019G>C (p.Arg340Thr)
c.1529G>C (p.Arg510Thr)
c.1190G>C (p.Arg397Thr)
c.1538G>C (p.Arg513Thr)
c.1502G>C (p.Arg501Thr)
c.679G>C
c.230G>C (p.Arg77Thr)
c.1619G>C (p.Arg540Thr)
c.1592G>C (p.Arg531Thr)
c.1496G>C (p.Arg499Thr)
c.1103G>C (p.Arg368Thr)
c.1565G>C (p.Arg522Thr)
c.1499G>C (p.Arg500Thr)
c.530G>C (p.Arg177Thr)
 ClinVar dbSNP
20g.63414097C>TCA409645150KCNQ2c.1568G>A (p.Arg523Lys)
c.1622G>A (p.Arg541Lys)
c.1019G>A (p.Arg340Lys)
c.1529G>A (p.Arg510Lys)
c.1190G>A (p.Arg397Lys)
c.1538G>A (p.Arg513Lys)
c.1502G>A (p.Arg501Lys)
c.679G>A
c.230G>A (p.Arg77Lys)
c.1619G>A (p.Arg540Lys)
c.1592G>A (p.Arg531Lys)
c.1496G>A (p.Arg499Lys)
c.1103G>A (p.Arg368Lys)
c.1565G>A (p.Arg522Lys)
c.1499G>A (p.Arg500Lys)
c.530G>A (p.Arg177Lys)
 ClinVar
20g.63414098T>ACA409645152KCNQ2c.1567A>T (p.Arg523Ter)
c.1621A>T (p.Arg541Ter)
c.1018A>T (p.Arg340Ter)
c.1528A>T (p.Arg510Ter)
c.1189A>T (p.Arg397Ter)
c.1537A>T (p.Arg513Ter)
c.1501A>T (p.Arg501Ter)
c.678A>T
c.229A>T (p.Arg77Ter)
c.1618A>T (p.Arg540Ter)
c.1591A>T (p.Arg531Ter)
c.1495A>T (p.Arg499Ter)
c.1102A>T (p.Arg368Ter)
c.1564A>T (p.Arg522Ter)
c.1498A>T (p.Arg500Ter)
c.529A>T (p.Arg177Ter)
20g.63414098T>CCA10654786KCNQ2c.1567A>G (p.Arg523Gly)
c.1621A>G (p.Arg541Gly)
c.1018A>G (p.Arg340Gly)
c.1528A>G (p.Arg510Gly)
c.1189A>G (p.Arg397Gly)
c.1537A>G (p.Arg513Gly)
c.1501A>G (p.Arg501Gly)
c.678A>G
c.229A>G (p.Arg77Gly)
c.1618A>G (p.Arg540Gly)
c.1591A>G (p.Arg531Gly)
c.1495A>G (p.Arg499Gly)
c.1102A>G (p.Arg368Gly)
c.1564A>G (p.Arg522Gly)
c.1498A>G (p.Arg500Gly)
c.529A>G (p.Arg177Gly)
 ClinVar dbSNP COSMIC COSMIC COSMIC
20g.63414098T>GCA511203855KCNQ2c.1567A>C (p.Arg523=)
c.1621A>C (p.Arg541=)
c.1018A>C (p.Arg340=)
c.1528A>C (p.Arg510=)
c.1189A>C (p.Arg397=)
c.1537A>C (p.Arg513=)
c.1501A>C (p.Arg501=)
c.678A>C
c.229A>C (p.Arg77=)
c.1618A>C (p.Arg540=)
c.1591A>C (p.Arg531=)
c.1495A>C (p.Arg499=)
c.1102A>C (p.Arg368=)
c.1564A>C (p.Arg522=)
c.1498A>C (p.Arg500=)
c.529A>C (p.Arg177=)
20g.63414098T=CA2374778288KCNQ2c.1567A= (p.Arg523=)
c.1621A= (p.Arg541=)
c.1018A= (p.Arg340=)
c.1528A= (p.Arg510=)
c.1189A= (p.Arg397=)
c.1537A= (p.Arg513=)
c.1501A= (p.Arg501=)
c.678A=
c.229A= (p.Arg77=)
c.1618A= (p.Arg540=)
c.1591A= (p.Arg531=)
c.1495A= (p.Arg499=)
c.1102A= (p.Arg368=)
c.1564A= (p.Arg522=)
c.1498A= (p.Arg500=)
c.529A= (p.Arg177=)
20g.63414099G>ACA511203856KCNQ2c.1566C>T (p.Ile522=)
c.1620C>T (p.Ile540=)
c.1017C>T (p.Ile339=)
c.1527C>T (p.Ile509=)
c.1188C>T (p.Ile396=)
c.1536C>T (p.Ile512=)
c.1500C>T (p.Ile500=)
c.677C>T
c.228C>T (p.Ile76=)
c.1617C>T (p.Ile539=)
c.1590C>T (p.Ile530=)
c.1494C>T (p.Ile498=)
c.1101C>T (p.Ile367=)
c.1563C>T (p.Ile521=)
c.1497C>T (p.Ile499=)
c.528C>T (p.Ile176=)
 gnomAD v4
20g.63414099G>CCA409645163KCNQ2c.1566C>G (p.Ile522Met)
c.1620C>G (p.Ile540Met)
c.1017C>G (p.Ile339Met)
c.1527C>G (p.Ile509Met)
c.1188C>G (p.Ile396Met)
c.1536C>G (p.Ile512Met)
c.1500C>G (p.Ile500Met)
c.677C>G
c.228C>G (p.Ile76Met)
c.1617C>G (p.Ile539Met)
c.1590C>G (p.Ile530Met)
c.1494C>G (p.Ile498Met)
c.1101C>G (p.Ile367Met)
c.1563C>G (p.Ile521Met)
c.1497C>G (p.Ile499Met)
c.528C>G (p.Ile176Met)
20g.63414099G>TCA511203857KCNQ2c.1566C>A (p.Ile522=)
c.1620C>A (p.Ile540=)
c.1017C>A (p.Ile339=)
c.1527C>A (p.Ile509=)
c.1188C>A (p.Ile396=)
c.1536C>A (p.Ile512=)
c.1500C>A (p.Ile500=)
c.677C>A
c.228C>A (p.Ile76=)
c.1617C>A (p.Ile539=)
c.1590C>A (p.Ile530=)
c.1494C>A (p.Ile498=)
c.1101C>A (p.Ile367=)
c.1563C>A (p.Ile521=)
c.1497C>A (p.Ile499=)
c.528C>A (p.Ile176=)
20g.63414100A=CA2374778289KCNQ2c.1565T= (p.Ile522=)
c.1619T= (p.Ile540=)
c.1016T= (p.Ile339=)
c.1526T= (p.Ile509=)
c.1187T= (p.Ile396=)
c.1535T= (p.Ile512=)
c.1499T= (p.Ile500=)
c.676T=
c.227T= (p.Ile76=)
c.1616T= (p.Ile539=)
c.1589T= (p.Ile530=)
c.1493T= (p.Ile498=)
c.1100T= (p.Ile367=)
c.1562T= (p.Ile521=)
c.1496T= (p.Ile499=)
c.527T= (p.Ile176=)
20g.63414100A>CCA409645165KCNQ2c.1565T>G (p.Ile522Ser)
c.1619T>G (p.Ile540Ser)
c.1016T>G (p.Ile339Ser)
c.1526T>G (p.Ile509Ser)
c.1187T>G (p.Ile396Ser)
c.1535T>G (p.Ile512Ser)
c.1499T>G (p.Ile500Ser)
c.676T>G
c.227T>G (p.Ile76Ser)
c.1616T>G (p.Ile539Ser)
c.1589T>G (p.Ile530Ser)
c.1493T>G (p.Ile498Ser)
c.1100T>G (p.Ile367Ser)
c.1562T>G (p.Ile521Ser)
c.1496T>G (p.Ile499Ser)
c.527T>G (p.Ile176Ser)
 ClinVar dbSNP
20g.63414100A>GCA409645168KCNQ2c.1565T>C (p.Ile522Thr)
c.1619T>C (p.Ile540Thr)
c.1016T>C (p.Ile339Thr)
c.1526T>C (p.Ile509Thr)
c.1187T>C (p.Ile396Thr)
c.1535T>C (p.Ile512Thr)
c.1499T>C (p.Ile500Thr)
c.676T>C
c.227T>C (p.Ile76Thr)
c.1616T>C (p.Ile539Thr)
c.1589T>C (p.Ile530Thr)
c.1493T>C (p.Ile498Thr)
c.1100T>C (p.Ile367Thr)
c.1562T>C (p.Ile521Thr)
c.1496T>C (p.Ile499Thr)
c.527T>C (p.Ile176Thr)
20g.63414100A>TCA409645170KCNQ2c.1565T>A (p.Ile522Asn)
c.1619T>A (p.Ile540Asn)
c.1016T>A (p.Ile339Asn)
c.1526T>A (p.Ile509Asn)
c.1187T>A (p.Ile396Asn)
c.1535T>A (p.Ile512Asn)
c.1499T>A (p.Ile500Asn)
c.676T>A
c.227T>A (p.Ile76Asn)
c.1616T>A (p.Ile539Asn)
c.1589T>A (p.Ile530Asn)
c.1493T>A (p.Ile498Asn)
c.1100T>A (p.Ile367Asn)
c.1562T>A (p.Ile521Asn)
c.1496T>A (p.Ile499Asn)
c.527T>A (p.Ile176Asn)
20g.63414101T>ACA409645171KCNQ2c.1564A>T (p.Ile522Phe)
c.1618A>T (p.Ile540Phe)
c.1015A>T (p.Ile339Phe)
c.1525A>T (p.Ile509Phe)
c.1186A>T (p.Ile396Phe)
c.1534A>T (p.Ile512Phe)
c.1498A>T (p.Ile500Phe)
c.675A>T
c.226A>T (p.Ile76Phe)
c.1615A>T (p.Ile539Phe)
c.1588A>T (p.Ile530Phe)
c.1492A>T (p.Ile498Phe)
c.1099A>T (p.Ile367Phe)
c.1561A>T (p.Ile521Phe)
c.1495A>T (p.Ile499Phe)
c.526A>T (p.Ile176Phe)
20g.63414101T>CCA409645172KCNQ2c.1564A>G (p.Ile522Val)
c.1618A>G (p.Ile540Val)
c.1015A>G (p.Ile339Val)
c.1525A>G (p.Ile509Val)
c.1186A>G (p.Ile396Val)
c.1534A>G (p.Ile512Val)
c.1498A>G (p.Ile500Val)
c.675A>G
c.226A>G (p.Ile76Val)
c.1615A>G (p.Ile539Val)
c.1588A>G (p.Ile530Val)
c.1492A>G (p.Ile498Val)
c.1099A>G (p.Ile367Val)
c.1561A>G (p.Ile521Val)
c.1495A>G (p.Ile499Val)
c.526A>G (p.Ile176Val)
 ClinVar dbSNP gnomAD v4
20g.63414101T>GCA409645175KCNQ2c.1564A>C (p.Ile522Leu)
c.1618A>C (p.Ile540Leu)
c.1015A>C (p.Ile339Leu)
c.1525A>C (p.Ile509Leu)
c.1186A>C (p.Ile396Leu)
c.1534A>C (p.Ile512Leu)
c.1498A>C (p.Ile500Leu)
c.675A>C
c.226A>C (p.Ile76Leu)
c.1615A>C (p.Ile539Leu)
c.1588A>C (p.Ile530Leu)
c.1492A>C (p.Ile498Leu)
c.1099A>C (p.Ile367Leu)
c.1561A>C (p.Ile521Leu)
c.1495A>C (p.Ile499Leu)
c.526A>C (p.Ile176Leu)
20g.63414102G>ACA511203860KCNQ2c.1563C>T (p.Ser521=)
c.1617C>T (p.Ser539=)
c.1014C>T (p.Ser338=)
c.1524C>T (p.Ser508=)
c.1185C>T (p.Ser395=)
c.1533C>T (p.Ser511=)
c.1497C>T (p.Ser499=)
c.674C>T
c.225C>T (p.Ser75=)
c.1614C>T (p.Ser538=)
c.1587C>T (p.Ser529=)
c.1491C>T (p.Ser497=)
c.1098C>T (p.Ser366=)
c.1560C>T (p.Ser520=)
c.1494C>T (p.Ser498=)
c.525C>T (p.Ser175=)
 ClinVar dbSNP
20g.63414102G>CCA409645176KCNQ2c.1563C>G (p.Ser521Arg)
c.1617C>G (p.Ser539Arg)
c.1014C>G (p.Ser338Arg)
c.1524C>G (p.Ser508Arg)
c.1185C>G (p.Ser395Arg)
c.1533C>G (p.Ser511Arg)
c.1497C>G (p.Ser499Arg)
c.674C>G
c.225C>G (p.Ser75Arg)
c.1614C>G (p.Ser538Arg)
c.1587C>G (p.Ser529Arg)
c.1491C>G (p.Ser497Arg)
c.1098C>G (p.Ser366Arg)
c.1560C>G (p.Ser520Arg)
c.1494C>G (p.Ser498Arg)
c.525C>G (p.Ser175Arg)
20g.63414102G>TCA409645177KCNQ2c.1563C>A (p.Ser521Arg)
c.1617C>A (p.Ser539Arg)
c.1014C>A (p.Ser338Arg)
c.1524C>A (p.Ser508Arg)
c.1185C>A (p.Ser395Arg)
c.1533C>A (p.Ser511Arg)
c.1497C>A (p.Ser499Arg)
c.674C>A
c.225C>A (p.Ser75Arg)
c.1614C>A (p.Ser538Arg)
c.1587C>A (p.Ser529Arg)
c.1491C>A (p.Ser497Arg)
c.1098C>A (p.Ser366Arg)
c.1560C>A (p.Ser520Arg)
c.1494C>A (p.Ser498Arg)
c.525C>A (p.Ser175Arg)
20g.63414103C>ACA409645178KCNQ2c.1562G>T (p.Ser521Ile)
c.1616G>T (p.Ser539Ile)
c.1013G>T (p.Ser338Ile)
c.1523G>T (p.Ser508Ile)
c.1184G>T (p.Ser395Ile)
c.1532G>T (p.Ser511Ile)
c.1496G>T (p.Ser499Ile)
c.673G>T
c.224G>T (p.Ser75Ile)
c.1613G>T (p.Ser538Ile)
c.1586G>T (p.Ser529Ile)
c.1490G>T (p.Ser497Ile)
c.1097G>T (p.Ser366Ile)
c.1559G>T (p.Ser520Ile)
c.1493G>T (p.Ser498Ile)
c.524G>T (p.Ser175Ile)
20g.63414103C>GCA409645179KCNQ2c.1562G>C (p.Ser521Thr)
c.1616G>C (p.Ser539Thr)
c.1013G>C (p.Ser338Thr)
c.1523G>C (p.Ser508Thr)
c.1184G>C (p.Ser395Thr)
c.1532G>C (p.Ser511Thr)
c.1496G>C (p.Ser499Thr)
c.673G>C
c.224G>C (p.Ser75Thr)
c.1613G>C (p.Ser538Thr)
c.1586G>C (p.Ser529Thr)
c.1490G>C (p.Ser497Thr)
c.1097G>C (p.Ser366Thr)
c.1559G>C (p.Ser520Thr)
c.1493G>C (p.Ser498Thr)
c.524G>C (p.Ser175Thr)
20g.63414103C>TCA409645180KCNQ2c.1562G>A (p.Ser521Asn)
c.1616G>A (p.Ser539Asn)
c.1013G>A (p.Ser338Asn)
c.1523G>A (p.Ser508Asn)
c.1184G>A (p.Ser395Asn)
c.1532G>A (p.Ser511Asn)
c.1496G>A (p.Ser499Asn)
c.673G>A
c.224G>A (p.Ser75Asn)
c.1613G>A (p.Ser538Asn)
c.1586G>A (p.Ser529Asn)
c.1490G>A (p.Ser497Asn)
c.1097G>A (p.Ser366Asn)
c.1559G>A (p.Ser520Asn)
c.1493G>A (p.Ser498Asn)
c.524G>A (p.Ser175Asn)
 ClinVar
20g.63414103_63414109delinsCTGACTTCA2374778290KCNQ2c.1556_1562delinsAAGTCAG (p.Lys519=)
c.1610_1616delinsAAGTCAG (p.Lys537=)
c.1007_1013delinsAAGTCAG (p.Lys336=)
c.1517_1523delinsAAGTCAG (p.Lys506=)
c.1178_1184delinsAAGTCAG (p.Lys393=)
c.1526_1532delinsAAGTCAG (p.Lys509=)
c.1490_1496delinsAAGTCAG (p.Lys497=)
c.667_673delinsAAGTCAG
c.218_224delinsAAGTCAG (p.Lys73=)
c.1607_1613delinsAAGTCAG (p.Lys536=)
c.1580_1586delinsAAGTCAG (p.Lys527=)
c.1484_1490delinsAAGTCAG (p.Lys495=)
c.1091_1097delinsAAGTCAG (p.Lys364=)
c.1553_1559delinsAAGTCAG (p.Lys518=)
c.1487_1493delinsAAGTCAG (p.Lys496=)
c.518_524delinsAAGTCAG (p.Lys173=)
20g.63414104T>ACA409645181KCNQ2c.1561A>T (p.Ser521Cys)
c.1615A>T (p.Ser539Cys)
c.1012A>T (p.Ser338Cys)
c.1522A>T (p.Ser508Cys)
c.1183A>T (p.Ser395Cys)
c.1531A>T (p.Ser511Cys)
c.1495A>T (p.Ser499Cys)
c.672A>T
c.223A>T (p.Ser75Cys)
c.1612A>T (p.Ser538Cys)
c.1585A>T (p.Ser529Cys)
c.1489A>T (p.Ser497Cys)
c.1096A>T (p.Ser366Cys)
c.1558A>T (p.Ser520Cys)
c.1492A>T (p.Ser498Cys)
c.523A>T (p.Ser175Cys)
 gnomAD v4
20g.63414104T>CCA409645183KCNQ2c.1561A>G (p.Ser521Gly)
c.1615A>G (p.Ser539Gly)
c.1012A>G (p.Ser338Gly)
c.1522A>G (p.Ser508Gly)
c.1183A>G (p.Ser395Gly)
c.1531A>G (p.Ser511Gly)
c.1495A>G (p.Ser499Gly)
c.672A>G
c.223A>G (p.Ser75Gly)
c.1612A>G (p.Ser538Gly)
c.1585A>G (p.Ser529Gly)
c.1489A>G (p.Ser497Gly)
c.1096A>G (p.Ser366Gly)
c.1558A>G (p.Ser520Gly)
c.1492A>G (p.Ser498Gly)
c.523A>G (p.Ser175Gly)
20g.63414104T>GCA409645186KCNQ2c.1561A>C (p.Ser521Arg)
c.1615A>C (p.Ser539Arg)
c.1012A>C (p.Ser338Arg)
c.1522A>C (p.Ser508Arg)
c.1183A>C (p.Ser395Arg)
c.1531A>C (p.Ser511Arg)
c.1495A>C (p.Ser499Arg)
c.672A>C
c.223A>C (p.Ser75Arg)
c.1612A>C (p.Ser538Arg)
c.1585A>C (p.Ser529Arg)
c.1489A>C (p.Ser497Arg)
c.1096A>C (p.Ser366Arg)
c.1558A>C (p.Ser520Arg)
c.1492A>C (p.Ser498Arg)
c.523A>C (p.Ser175Arg)
20g.63414107_63414112delCA645372661KCNQ2c.1556_1561del (p.Lys519_Val520del)
c.1610_1615del (p.Lys537_Val538del)
c.1007_1012del (p.Lys336_Val337del)
c.1517_1522del (p.Lys506_Val507del)
c.1178_1183del (p.Lys393_Val394del)
c.1526_1531del (p.Lys509_Val510del)
c.1490_1495del (p.Lys497_Val498del)
c.667_672del
c.218_223del (p.Lys73_Val74del)
c.1607_1612del (p.Lys536_Val537del)
c.1580_1585del (p.Lys527_Val528del)
c.1484_1489del (p.Lys495_Val496del)
c.1091_1096del (p.Lys364_Val365del)
c.1553_1558del (p.Lys518_Val519del)
c.1487_1492del (p.Lys496_Val497del)
c.518_523del (p.Lys173_Val174del)
 ClinVar dbSNP
20g.63414105G>ACA511203861KCNQ2c.1560C>T (p.Val520=)
c.1614C>T (p.Val538=)
c.1011C>T (p.Val337=)
c.1521C>T (p.Val507=)
c.1182C>T (p.Val394=)
c.1530C>T (p.Val510=)
c.1494C>T (p.Val498=)
c.671C>T
c.222C>T (p.Val74=)
c.1611C>T (p.Val537=)
c.1584C>T (p.Val528=)
c.1488C>T (p.Val496=)
c.1095C>T (p.Val365=)
c.1557C>T (p.Val519=)
c.1491C>T (p.Val497=)
c.522C>T (p.Val174=)
20g.63414105G>CCA511203862KCNQ2c.1560C>G (p.Val520=)
c.1614C>G (p.Val538=)
c.1011C>G (p.Val337=)
c.1521C>G (p.Val507=)
c.1182C>G (p.Val394=)
c.1530C>G (p.Val510=)
c.1494C>G (p.Val498=)
c.671C>G
c.222C>G (p.Val74=)
c.1611C>G (p.Val537=)
c.1584C>G (p.Val528=)
c.1488C>G (p.Val496=)
c.1095C>G (p.Val365=)
c.1557C>G (p.Val519=)
c.1491C>G (p.Val497=)
c.522C>G (p.Val174=)
20g.63414105G>TCA511203863KCNQ2c.1560C>A (p.Val520=)
c.1614C>A (p.Val538=)
c.1011C>A (p.Val337=)
c.1521C>A (p.Val507=)
c.1182C>A (p.Val394=)
c.1530C>A (p.Val510=)
c.1494C>A (p.Val498=)
c.671C>A
c.222C>A (p.Val74=)
c.1611C>A (p.Val537=)
c.1584C>A (p.Val528=)
c.1488C>A (p.Val496=)
c.1095C>A (p.Val365=)
c.1557C>A (p.Val519=)
c.1491C>A (p.Val497=)
c.522C>A (p.Val174=)
20g.63414106A>CCA409645197KCNQ2c.1559T>G (p.Val520Gly)
c.1613T>G (p.Val538Gly)
c.1010T>G (p.Val337Gly)
c.1520T>G (p.Val507Gly)
c.1181T>G (p.Val394Gly)
c.1529T>G (p.Val510Gly)
c.1493T>G (p.Val498Gly)
c.670T>G
c.221T>G (p.Val74Gly)
c.1610T>G (p.Val537Gly)
c.1583T>G (p.Val528Gly)
c.1487T>G (p.Val496Gly)
c.1094T>G (p.Val365Gly)
c.1556T>G (p.Val519Gly)
c.1490T>G (p.Val497Gly)
c.521T>G (p.Val174Gly)
20g.63414106A>GCA409645195KCNQ2c.1559T>C (p.Val520Ala)
c.1613T>C (p.Val538Ala)
c.1010T>C (p.Val337Ala)
c.1520T>C (p.Val507Ala)
c.1181T>C (p.Val394Ala)
c.1529T>C (p.Val510Ala)
c.1493T>C (p.Val498Ala)
c.670T>C
c.221T>C (p.Val74Ala)
c.1610T>C (p.Val537Ala)
c.1583T>C (p.Val528Ala)
c.1487T>C (p.Val496Ala)
c.1094T>C (p.Val365Ala)
c.1556T>C (p.Val519Ala)
c.1490T>C (p.Val497Ala)
c.521T>C (p.Val174Ala)
20g.63414106A>TCA409645193KCNQ2c.1559T>A (p.Val520Asp)
c.1613T>A (p.Val538Asp)
c.1010T>A (p.Val337Asp)
c.1520T>A (p.Val507Asp)
c.1181T>A (p.Val394Asp)
c.1529T>A (p.Val510Asp)
c.1493T>A (p.Val498Asp)
c.670T>A
c.221T>A (p.Val74Asp)
c.1610T>A (p.Val537Asp)
c.1583T>A (p.Val528Asp)
c.1487T>A (p.Val496Asp)
c.1094T>A (p.Val365Asp)
c.1556T>A (p.Val519Asp)
c.1490T>A (p.Val497Asp)
c.521T>A (p.Val174Asp)
20g.63414107C>ACA409645202KCNQ2c.1558G>T (p.Val520Phe)
c.1612G>T (p.Val538Phe)
c.1009G>T (p.Val337Phe)
c.1519G>T (p.Val507Phe)
c.1180G>T (p.Val394Phe)
c.1528G>T (p.Val510Phe)
c.1492G>T (p.Val498Phe)
c.669G>T
c.220G>T (p.Val74Phe)
c.1609G>T (p.Val537Phe)
c.1582G>T (p.Val528Phe)
c.1486G>T (p.Val496Phe)
c.1093G>T (p.Val365Phe)
c.1555G>T (p.Val519Phe)
c.1489G>T (p.Val497Phe)
c.520G>T (p.Val174Phe)
20g.63414107C=CA2374778291KCNQ2c.1558G= (p.Val520=)
c.1612G= (p.Val538=)
c.1009G= (p.Val337=)
c.1519G= (p.Val507=)
c.1180G= (p.Val394=)
c.1528G= (p.Val510=)
c.1492G= (p.Val498=)
c.669G=
c.220G= (p.Val74=)
c.1609G= (p.Val537=)
c.1582G= (p.Val528=)
c.1486G= (p.Val496=)
c.1093G= (p.Val365=)
c.1555G= (p.Val519=)
c.1489G= (p.Val497=)
c.520G= (p.Val174=)
20g.63414107C>GCA409645200KCNQ2c.1558G>C (p.Val520Leu)
c.1612G>C (p.Val538Leu)
c.1009G>C (p.Val337Leu)
c.1519G>C (p.Val507Leu)
c.1180G>C (p.Val394Leu)
c.1528G>C (p.Val510Leu)
c.1492G>C (p.Val498Leu)
c.669G>C
c.220G>C (p.Val74Leu)
c.1609G>C (p.Val537Leu)
c.1582G>C (p.Val528Leu)
c.1486G>C (p.Val496Leu)
c.1093G>C (p.Val365Leu)
c.1555G>C (p.Val519Leu)
c.1489G>C (p.Val497Leu)
c.520G>C (p.Val174Leu)
 gnomAD v4
20g.63414107C>TCA409645201KCNQ2c.1558G>A (p.Val520Ile)
c.1612G>A (p.Val538Ile)
c.1009G>A (p.Val337Ile)
c.1519G>A (p.Val507Ile)
c.1180G>A (p.Val394Ile)
c.1528G>A (p.Val510Ile)
c.1492G>A (p.Val498Ile)
c.669G>A
c.220G>A (p.Val74Ile)
c.1609G>A (p.Val537Ile)
c.1582G>A (p.Val528Ile)
c.1486G>A (p.Val496Ile)
c.1093G>A (p.Val365Ile)
c.1555G>A (p.Val519Ile)
c.1489G>A (p.Val497Ile)
c.520G>A (p.Val174Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63414108T>ACA409645203KCNQ2c.1557A>T (p.Lys519Asn)
c.1611A>T (p.Lys537Asn)
c.1008A>T (p.Lys336Asn)
c.1518A>T (p.Lys506Asn)
c.1179A>T (p.Lys393Asn)
c.1527A>T (p.Lys509Asn)
c.1491A>T (p.Lys497Asn)
c.668A>T
c.219A>T (p.Lys73Asn)
c.1608A>T (p.Lys536Asn)
c.1581A>T (p.Lys527Asn)
c.1485A>T (p.Lys495Asn)
c.1092A>T (p.Lys364Asn)
c.1554A>T (p.Lys518Asn)
c.1488A>T (p.Lys496Asn)
c.519A>T (p.Lys173Asn)
 ClinVar
20g.63414108T>CCA511203864KCNQ2c.1557A>G (p.Lys519=)
c.1611A>G (p.Lys537=)
c.1008A>G (p.Lys336=)
c.1518A>G (p.Lys506=)
c.1179A>G (p.Lys393=)
c.1527A>G (p.Lys509=)
c.1491A>G (p.Lys497=)
c.668A>G
c.219A>G (p.Lys73=)
c.1608A>G (p.Lys536=)
c.1581A>G (p.Lys527=)
c.1485A>G (p.Lys495=)
c.1092A>G (p.Lys364=)
c.1554A>G (p.Lys518=)
c.1488A>G (p.Lys496=)
c.519A>G (p.Lys173=)
20g.63414108T>GCA409645204KCNQ2c.1557A>C (p.Lys519Asn)
c.1611A>C (p.Lys537Asn)
c.1008A>C (p.Lys336Asn)
c.1518A>C (p.Lys506Asn)
c.1179A>C (p.Lys393Asn)
c.1527A>C (p.Lys509Asn)
c.1491A>C (p.Lys497Asn)
c.668A>C
c.219A>C (p.Lys73Asn)
c.1608A>C (p.Lys536Asn)
c.1581A>C (p.Lys527Asn)
c.1485A>C (p.Lys495Asn)
c.1092A>C (p.Lys364Asn)
c.1554A>C (p.Lys518Asn)
c.1488A>C (p.Lys496Asn)
c.519A>C (p.Lys173Asn)
20g.63414109T>ACA409645206KCNQ2c.1556A>T (p.Lys519Ile)
c.1610A>T (p.Lys537Ile)
c.1007A>T (p.Lys336Ile)
c.1517A>T (p.Lys506Ile)
c.1178A>T (p.Lys393Ile)
c.1526A>T (p.Lys509Ile)
c.1490A>T (p.Lys497Ile)
c.667A>T
c.218A>T (p.Lys73Ile)
c.1607A>T (p.Lys536Ile)
c.1580A>T (p.Lys527Ile)
c.1484A>T (p.Lys495Ile)
c.1091A>T (p.Lys364Ile)
c.1553A>T (p.Lys518Ile)
c.1487A>T (p.Lys496Ile)
c.518A>T (p.Lys173Ile)
20g.63414109T>CCA9958395KCNQ2c.1556A>G (p.Lys519Arg)
c.1610A>G (p.Lys537Arg)
c.1007A>G (p.Lys336Arg)
c.1517A>G (p.Lys506Arg)
c.1178A>G (p.Lys393Arg)
c.1526A>G (p.Lys509Arg)
c.1490A>G (p.Lys497Arg)
c.667A>G
c.218A>G (p.Lys73Arg)
c.1607A>G (p.Lys536Arg)
c.1580A>G (p.Lys527Arg)
c.1484A>G (p.Lys495Arg)
c.1091A>G (p.Lys364Arg)
c.1553A>G (p.Lys518Arg)
c.1487A>G (p.Lys496Arg)
c.518A>G (p.Lys173Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414109T>GCA409645211KCNQ2c.1556A>C (p.Lys519Thr)
c.1610A>C (p.Lys537Thr)
c.1007A>C (p.Lys336Thr)
c.1517A>C (p.Lys506Thr)
c.1178A>C (p.Lys393Thr)
c.1526A>C (p.Lys509Thr)
c.1490A>C (p.Lys497Thr)
c.667A>C
c.218A>C (p.Lys73Thr)
c.1607A>C (p.Lys536Thr)
c.1580A>C (p.Lys527Thr)
c.1484A>C (p.Lys495Thr)
c.1091A>C (p.Lys364Thr)
c.1553A>C (p.Lys518Thr)
c.1487A>C (p.Lys496Thr)
c.518A>C (p.Lys173Thr)
20g.63414109T=CA2374778292KCNQ2c.1556A= (p.Lys519=)
c.1610A= (p.Lys537=)
c.1007A= (p.Lys336=)
c.1517A= (p.Lys506=)
c.1178A= (p.Lys393=)
c.1526A= (p.Lys509=)
c.1490A= (p.Lys497=)
c.667A=
c.218A= (p.Lys73=)
c.1607A= (p.Lys536=)
c.1580A= (p.Lys527=)
c.1484A= (p.Lys495=)
c.1091A= (p.Lys364=)
c.1553A= (p.Lys518=)
c.1487A= (p.Lys496=)
c.518A= (p.Lys173=)
20g.63414110T>ACA10654787KCNQ2c.1555A>T (p.Lys519Ter)
c.1609A>T (p.Lys537Ter)
c.1006A>T (p.Lys336Ter)
c.1516A>T (p.Lys506Ter)
c.1177A>T (p.Lys393Ter)
c.1525A>T (p.Lys509Ter)
c.1489A>T (p.Lys497Ter)
c.666A>T
c.217A>T (p.Lys73Ter)
c.1606A>T (p.Lys536Ter)
c.1579A>T (p.Lys527Ter)
c.1483A>T (p.Lys495Ter)
c.1090A>T (p.Lys364Ter)
c.1552A>T (p.Lys518Ter)
c.1486A>T (p.Lys496Ter)
c.517A>T (p.Lys173Ter)
 ClinVar dbSNP
20g.63414110T>CCA409645213KCNQ2c.1555A>G (p.Lys519Glu)
c.1609A>G (p.Lys537Glu)
c.1006A>G (p.Lys336Glu)
c.1516A>G (p.Lys506Glu)
c.1177A>G (p.Lys393Glu)
c.1525A>G (p.Lys509Glu)
c.1489A>G (p.Lys497Glu)
c.666A>G
c.217A>G (p.Lys73Glu)
c.1606A>G (p.Lys536Glu)
c.1579A>G (p.Lys527Glu)
c.1483A>G (p.Lys495Glu)
c.1090A>G (p.Lys364Glu)
c.1552A>G (p.Lys518Glu)
c.1486A>G (p.Lys496Glu)
c.517A>G (p.Lys173Glu)
20g.63414110T>GCA409645217KCNQ2c.1555A>C (p.Lys519Gln)
c.1609A>C (p.Lys537Gln)
c.1006A>C (p.Lys336Gln)
c.1516A>C (p.Lys506Gln)
c.1177A>C (p.Lys393Gln)
c.1525A>C (p.Lys509Gln)
c.1489A>C (p.Lys497Gln)
c.666A>C
c.217A>C (p.Lys73Gln)
c.1606A>C (p.Lys536Gln)
c.1579A>C (p.Lys527Gln)
c.1483A>C (p.Lys495Gln)
c.1090A>C (p.Lys364Gln)
c.1552A>C (p.Lys518Gln)
c.1486A>C (p.Lys496Gln)
c.517A>C (p.Lys173Gln)
20g.63414110T=CA2374778293KCNQ2c.1555A= (p.Lys519=)
c.1609A= (p.Lys537=)
c.1006A= (p.Lys336=)
c.1516A= (p.Lys506=)
c.1177A= (p.Lys393=)
c.1525A= (p.Lys509=)
c.1489A= (p.Lys497=)
c.666A=
c.217A= (p.Lys73=)
c.1606A= (p.Lys536=)
c.1579A= (p.Lys527=)
c.1483A= (p.Lys495=)
c.1090A= (p.Lys364=)
c.1552A= (p.Lys518=)
c.1486A= (p.Lys496=)
c.517A= (p.Lys173=)
20g.63414111G>ACA511203868KCNQ2c.1554C>T (p.Leu518=)
c.1608C>T (p.Leu536=)
c.1005C>T (p.Leu335=)
c.1515C>T (p.Leu505=)
c.1176C>T (p.Leu392=)
c.1524C>T (p.Leu508=)
c.1488C>T (p.Leu496=)
c.665C>T
c.216C>T (p.Leu72=)
c.1605C>T (p.Leu535=)
c.1578C>T (p.Leu526=)
c.1482C>T (p.Leu494=)
c.1089C>T (p.Leu363=)
c.1551C>T (p.Leu517=)
c.1485C>T (p.Leu495=)
c.516C>T (p.Leu172=)
20g.63414111G>CCA511203869KCNQ2c.1554C>G (p.Leu518=)
c.1608C>G (p.Leu536=)
c.1005C>G (p.Leu335=)
c.1515C>G (p.Leu505=)
c.1176C>G (p.Leu392=)
c.1524C>G (p.Leu508=)
c.1488C>G (p.Leu496=)
c.665C>G
c.216C>G (p.Leu72=)
c.1605C>G (p.Leu535=)
c.1578C>G (p.Leu526=)
c.1482C>G (p.Leu494=)
c.1089C>G (p.Leu363=)
c.1551C>G (p.Leu517=)
c.1485C>G (p.Leu495=)
c.516C>G (p.Leu172=)
20g.63414111G>TCA511203870KCNQ2c.1554C>A (p.Leu518=)
c.1608C>A (p.Leu536=)
c.1005C>A (p.Leu335=)
c.1515C>A (p.Leu505=)
c.1176C>A (p.Leu392=)
c.1524C>A (p.Leu508=)
c.1488C>A (p.Leu496=)
c.665C>A
c.216C>A (p.Leu72=)
c.1605C>A (p.Leu535=)
c.1578C>A (p.Leu526=)
c.1482C>A (p.Leu494=)
c.1089C>A (p.Leu363=)
c.1551C>A (p.Leu517=)
c.1485C>A (p.Leu495=)
c.516C>A (p.Leu172=)
20g.63414112A>CCA409645219KCNQ2c.1553T>G (p.Leu518Arg)
c.1607T>G (p.Leu536Arg)
c.1004T>G (p.Leu335Arg)
c.1514T>G (p.Leu505Arg)
c.1175T>G (p.Leu392Arg)
c.1523T>G (p.Leu508Arg)
c.1487T>G (p.Leu496Arg)
c.664T>G
c.215T>G (p.Leu72Arg)
c.1604T>G (p.Leu535Arg)
c.1577T>G (p.Leu526Arg)
c.1481T>G (p.Leu494Arg)
c.1088T>G (p.Leu363Arg)
c.1550T>G (p.Leu517Arg)
c.1484T>G (p.Leu495Arg)
c.515T>G (p.Leu172Arg)
20g.63414112A>GCA409645220KCNQ2c.1553T>C (p.Leu518Pro)
c.1607T>C (p.Leu536Pro)
c.1004T>C (p.Leu335Pro)
c.1514T>C (p.Leu505Pro)
c.1175T>C (p.Leu392Pro)
c.1523T>C (p.Leu508Pro)
c.1487T>C (p.Leu496Pro)
c.664T>C
c.215T>C (p.Leu72Pro)
c.1604T>C (p.Leu535Pro)
c.1577T>C (p.Leu526Pro)
c.1481T>C (p.Leu494Pro)
c.1088T>C (p.Leu363Pro)
c.1550T>C (p.Leu517Pro)
c.1484T>C (p.Leu495Pro)
c.515T>C (p.Leu172Pro)
20g.63414112A>TCA409645221KCNQ2c.1553T>A (p.Leu518His)
c.1607T>A (p.Leu536His)
c.1004T>A (p.Leu335His)
c.1514T>A (p.Leu505His)
c.1175T>A (p.Leu392His)
c.1523T>A (p.Leu508His)
c.1487T>A (p.Leu496His)
c.664T>A
c.215T>A (p.Leu72His)
c.1604T>A (p.Leu535His)
c.1577T>A (p.Leu526His)
c.1481T>A (p.Leu494His)
c.1088T>A (p.Leu363His)
c.1550T>A (p.Leu517His)
c.1484T>A (p.Leu495His)
c.515T>A (p.Leu172His)
20g.63414113G>ACA409645224KCNQ2c.1552C>T (p.Leu518Phe)
c.1606C>T (p.Leu536Phe)
c.1003C>T (p.Leu335Phe)
c.1513C>T (p.Leu505Phe)
c.1174C>T (p.Leu392Phe)
c.1522C>T (p.Leu508Phe)
c.1486C>T (p.Leu496Phe)
c.663C>T
c.214C>T (p.Leu72Phe)
c.1603C>T (p.Leu535Phe)
c.1576C>T (p.Leu526Phe)
c.1480C>T (p.Leu494Phe)
c.1087C>T (p.Leu363Phe)
c.1549C>T (p.Leu517Phe)
c.1483C>T (p.Leu495Phe)
c.514C>T (p.Leu172Phe)
 dbSNP gnomAD v4
20g.63414113G>CCA409645223KCNQ2c.1552C>G (p.Leu518Val)
c.1606C>G (p.Leu536Val)
c.1003C>G (p.Leu335Val)
c.1513C>G (p.Leu505Val)
c.1174C>G (p.Leu392Val)
c.1522C>G (p.Leu508Val)
c.1486C>G (p.Leu496Val)
c.663C>G
c.214C>G (p.Leu72Val)
c.1603C>G (p.Leu535Val)
c.1576C>G (p.Leu526Val)
c.1480C>G (p.Leu494Val)
c.1087C>G (p.Leu363Val)
c.1549C>G (p.Leu517Val)
c.1483C>G (p.Leu495Val)
c.514C>G (p.Leu172Val)
20g.63414113G=CA2374778294KCNQ2c.1552C= (p.Leu518=)
c.1606C= (p.Leu536=)
c.1003C= (p.Leu335=)
c.1513C= (p.Leu505=)
c.1174C= (p.Leu392=)
c.1522C= (p.Leu508=)
c.1486C= (p.Leu496=)
c.663C=
c.214C= (p.Leu72=)
c.1603C= (p.Leu535=)
c.1576C= (p.Leu526=)
c.1480C= (p.Leu494=)
c.1087C= (p.Leu363=)
c.1549C= (p.Leu517=)
c.1483C= (p.Leu495=)
c.514C= (p.Leu172=)
20g.63414113G>TCA409645222KCNQ2c.1552C>A (p.Leu518Ile)
c.1606C>A (p.Leu536Ile)
c.1003C>A (p.Leu335Ile)
c.1513C>A (p.Leu505Ile)
c.1174C>A (p.Leu392Ile)
c.1522C>A (p.Leu508Ile)
c.1486C>A (p.Leu496Ile)
c.663C>A
c.214C>A (p.Leu72Ile)
c.1603C>A (p.Leu535Ile)
c.1576C>A (p.Leu526Ile)
c.1480C>A (p.Leu494Ile)
c.1087C>A (p.Leu363Ile)
c.1549C>A (p.Leu517Ile)
c.1483C>A (p.Leu495Ile)
c.514C>A (p.Leu172Ile)
20g.63414114G>ACA9958396KCNQ2c.1551C>T (p.Gly517=)
c.1605C>T (p.Gly535=)
c.1002C>T (p.Gly334=)
c.1512C>T (p.Gly504=)
c.1173C>T (p.Gly391=)
c.1521C>T (p.Gly507=)
c.1485C>T (p.Gly495=)
c.662C>T
c.213C>T (p.Gly71=)
c.1602C>T (p.Gly534=)
c.1575C>T (p.Gly525=)
c.1479C>T (p.Gly493=)
c.1086C>T (p.Gly362=)
c.1548C>T (p.Gly516=)
c.1482C>T (p.Gly494=)
c.513C>T (p.Gly171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414114G>CCA511203873KCNQ2c.1551C>G (p.Gly517=)
c.1605C>G (p.Gly535=)
c.1002C>G (p.Gly334=)
c.1512C>G (p.Gly504=)
c.1173C>G (p.Gly391=)
c.1521C>G (p.Gly507=)
c.1485C>G (p.Gly495=)
c.662C>G
c.213C>G (p.Gly71=)
c.1602C>G (p.Gly534=)
c.1575C>G (p.Gly525=)
c.1479C>G (p.Gly493=)
c.1086C>G (p.Gly362=)
c.1548C>G (p.Gly516=)
c.1482C>G (p.Gly494=)
c.513C>G (p.Gly171=)
20g.63414114G=CA2374778295KCNQ2c.1551C= (p.Gly517=)
c.1605C= (p.Gly535=)
c.1002C= (p.Gly334=)
c.1512C= (p.Gly504=)
c.1173C= (p.Gly391=)
c.1521C= (p.Gly507=)
c.1485C= (p.Gly495=)
c.662C=
c.213C= (p.Gly71=)
c.1602C= (p.Gly534=)
c.1575C= (p.Gly525=)
c.1479C= (p.Gly493=)
c.1086C= (p.Gly362=)
c.1548C= (p.Gly516=)
c.1482C= (p.Gly494=)
c.513C= (p.Gly171=)
20g.63414114G>TCA511203875KCNQ2c.1551C>A (p.Gly517=)
c.1605C>A (p.Gly535=)
c.1002C>A (p.Gly334=)
c.1512C>A (p.Gly504=)
c.1173C>A (p.Gly391=)
c.1521C>A (p.Gly507=)
c.1485C>A (p.Gly495=)
c.662C>A
c.213C>A (p.Gly71=)
c.1602C>A (p.Gly534=)
c.1575C>A (p.Gly525=)
c.1479C>A (p.Gly493=)
c.1086C>A (p.Gly362=)
c.1548C>A (p.Gly516=)
c.1482C>A (p.Gly494=)
c.513C>A (p.Gly171=)
20g.63414115C>ACA409645227KCNQ2c.1550G>T (p.Gly517Val)
c.1604G>T (p.Gly535Val)
c.1001G>T (p.Gly334Val)
c.1511G>T (p.Gly504Val)
c.1172G>T (p.Gly391Val)
c.1520G>T (p.Gly507Val)
c.1484G>T (p.Gly495Val)
c.661G>T
c.212G>T (p.Gly71Val)
c.1601G>T (p.Gly534Val)
c.1574G>T (p.Gly525Val)
c.1478G>T (p.Gly493Val)
c.1085G>T (p.Gly362Val)
c.1547G>T (p.Gly516Val)
c.1481G>T (p.Gly494Val)
c.512G>T (p.Gly171Val)
20g.63414115C>GCA409645229KCNQ2c.1550G>C (p.Gly517Ala)
c.1604G>C (p.Gly535Ala)
c.1001G>C (p.Gly334Ala)
c.1511G>C (p.Gly504Ala)
c.1172G>C (p.Gly391Ala)
c.1520G>C (p.Gly507Ala)
c.1484G>C (p.Gly495Ala)
c.661G>C
c.212G>C (p.Gly71Ala)
c.1601G>C (p.Gly534Ala)
c.1574G>C (p.Gly525Ala)
c.1478G>C (p.Gly493Ala)
c.1085G>C (p.Gly362Ala)
c.1547G>C (p.Gly516Ala)
c.1481G>C (p.Gly494Ala)
c.512G>C (p.Gly171Ala)
20g.63414115C>TCA409645231KCNQ2c.1550G>A (p.Gly517Asp)
c.1604G>A (p.Gly535Asp)
c.1001G>A (p.Gly334Asp)
c.1511G>A (p.Gly504Asp)
c.1172G>A (p.Gly391Asp)
c.1520G>A (p.Gly507Asp)
c.1484G>A (p.Gly495Asp)
c.661G>A
c.212G>A (p.Gly71Asp)
c.1601G>A (p.Gly534Asp)
c.1574G>A (p.Gly525Asp)
c.1478G>A (p.Gly493Asp)
c.1085G>A (p.Gly362Asp)
c.1547G>A (p.Gly516Asp)
c.1481G>A (p.Gly494Asp)
c.512G>A (p.Gly171Asp)
20g.63414117dupCA10603543KCNQ2c.1550dup (p.Leu518ProfsTer?)
c.1604dup (p.Leu536ProfsTer?)
c.1001dup (p.Leu335ProfsTer?)
c.1511dup (p.Leu505ProfsTer?)
c.1172dup (p.Leu392ProfsTer?)
c.1520dup (p.Leu508ProfsTer?)
c.1484dup (p.Leu496ProfsTer?)
c.661dup
c.212dup (p.Leu72ProfsTer?)
c.1601dup (p.Leu535ProfsTer?)
c.1574dup (p.Leu526ProfsTer?)
c.1478dup (p.Leu494ProfsTer?)
c.1085dup (p.Leu363ProfsTer?)
c.1547dup (p.Leu517ProfsTer?)
c.1481dup (p.Leu495ProfsTer?)
c.512dup (p.Leu172ProfsTer?)
 ClinVar dbSNP COSMIC COSMIC COSMIC
20g.63414116C>ACA409645233KCNQ2c.1549G>T (p.Gly517Cys)
c.1603G>T (p.Gly535Cys)
c.1000G>T (p.Gly334Cys)
c.1510G>T (p.Gly504Cys)
c.1171G>T (p.Gly391Cys)
c.1519G>T (p.Gly507Cys)
c.1483G>T (p.Gly495Cys)
c.660G>T
c.211G>T (p.Gly71Cys)
c.1600G>T (p.Gly534Cys)
c.1573G>T (p.Gly525Cys)
c.1477G>T (p.Gly493Cys)
c.1084G>T (p.Gly362Cys)
c.1546G>T (p.Gly516Cys)
c.1480G>T (p.Gly494Cys)
c.511G>T (p.Gly171Cys)
20g.63414116C>GCA409645234KCNQ2c.1549G>C (p.Gly517Arg)
c.1603G>C (p.Gly535Arg)
c.1000G>C (p.Gly334Arg)
c.1510G>C (p.Gly504Arg)
c.1171G>C (p.Gly391Arg)
c.1519G>C (p.Gly507Arg)
c.1483G>C (p.Gly495Arg)
c.660G>C
c.211G>C (p.Gly71Arg)
c.1600G>C (p.Gly534Arg)
c.1573G>C (p.Gly525Arg)
c.1477G>C (p.Gly493Arg)
c.1084G>C (p.Gly362Arg)
c.1546G>C (p.Gly516Arg)
c.1480G>C (p.Gly494Arg)
c.511G>C (p.Gly171Arg)
20g.63414116C>TCA409645236KCNQ2c.1549G>A (p.Gly517Ser)
c.1603G>A (p.Gly535Ser)
c.1000G>A (p.Gly334Ser)
c.1510G>A (p.Gly504Ser)
c.1171G>A (p.Gly391Ser)
c.1519G>A (p.Gly507Ser)
c.1483G>A (p.Gly495Ser)
c.660G>A
c.211G>A (p.Gly71Ser)
c.1600G>A (p.Gly534Ser)
c.1573G>A (p.Gly525Ser)
c.1477G>A (p.Gly493Ser)
c.1084G>A (p.Gly362Ser)
c.1546G>A (p.Gly516Ser)
c.1480G>A (p.Gly494Ser)
c.511G>A (p.Gly171Ser)
 ClinVar
20g.63414117C>ACA511203876KCNQ2c.1548G>T (p.Pro516=)
c.1602G>T (p.Pro534=)
c.999G>T (p.Pro333=)
c.1509G>T (p.Pro503=)
c.1170G>T (p.Pro390=)
c.1518G>T (p.Pro506=)
c.1482G>T (p.Pro494=)
c.659G>T
c.210G>T (p.Pro70=)
c.1599G>T (p.Pro533=)
c.1572G>T (p.Pro524=)
c.1476G>T (p.Pro492=)
c.1083G>T (p.Pro361=)
c.1545G>T (p.Pro515=)
c.1479G>T (p.Pro493=)
c.510G>T (p.Pro170=)
 gnomAD v4
20g.63414117C=CA2374778296KCNQ2c.1548G= (p.Pro516=)
c.1602G= (p.Pro534=)
c.999G= (p.Pro333=)
c.1509G= (p.Pro503=)
c.1170G= (p.Pro390=)
c.1518G= (p.Pro506=)
c.1482G= (p.Pro494=)
c.659G=
c.210G= (p.Pro70=)
c.1599G= (p.Pro533=)
c.1572G= (p.Pro524=)
c.1476G= (p.Pro492=)
c.1083G= (p.Pro361=)
c.1545G= (p.Pro515=)
c.1479G= (p.Pro493=)
c.510G= (p.Pro170=)
20g.63414117C>GCA511203877KCNQ2c.1548G>C (p.Pro516=)
c.1602G>C (p.Pro534=)
c.999G>C (p.Pro333=)
c.1509G>C (p.Pro503=)
c.1170G>C (p.Pro390=)
c.1518G>C (p.Pro506=)
c.1482G>C (p.Pro494=)
c.659G>C
c.210G>C (p.Pro70=)
c.1599G>C (p.Pro533=)
c.1572G>C (p.Pro524=)
c.1476G>C (p.Pro492=)
c.1083G>C (p.Pro361=)
c.1545G>C (p.Pro515=)
c.1479G>C (p.Pro493=)
c.510G>C (p.Pro170=)
20g.63414117C>TCA9958397KCNQ2c.1548G>A (p.Pro516=)
c.1602G>A (p.Pro534=)
c.999G>A (p.Pro333=)
c.1509G>A (p.Pro503=)
c.1170G>A (p.Pro390=)
c.1518G>A (p.Pro506=)
c.1482G>A (p.Pro494=)
c.659G>A
c.210G>A (p.Pro70=)
c.1599G>A (p.Pro533=)
c.1572G>A (p.Pro524=)
c.1476G>A (p.Pro492=)
c.1083G>A (p.Pro361=)
c.1545G>A (p.Pro515=)
c.1479G>A (p.Pro493=)
c.510G>A (p.Pro170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414118G>ACA317429728KCNQ2c.1547C>T (p.Pro516Leu)
c.1601C>T (p.Pro534Leu)
c.998C>T (p.Pro333Leu)
c.1508C>T (p.Pro503Leu)
c.1169C>T (p.Pro390Leu)
c.1517C>T (p.Pro506Leu)
c.1481C>T (p.Pro494Leu)
c.658C>T
c.209C>T (p.Pro70Leu)
c.1598C>T (p.Pro533Leu)
c.1571C>T (p.Pro524Leu)
c.1475C>T (p.Pro492Leu)
c.1082C>T (p.Pro361Leu)
c.1544C>T (p.Pro515Leu)
c.1478C>T (p.Pro493Leu)
c.509C>T (p.Pro170Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63414118G>CCA409645242KCNQ2c.1547C>G (p.Pro516Arg)
c.1601C>G (p.Pro534Arg)
c.998C>G (p.Pro333Arg)
c.1508C>G (p.Pro503Arg)
c.1169C>G (p.Pro390Arg)
c.1517C>G (p.Pro506Arg)
c.1481C>G (p.Pro494Arg)
c.658C>G
c.209C>G (p.Pro70Arg)
c.1598C>G (p.Pro533Arg)
c.1571C>G (p.Pro524Arg)
c.1475C>G (p.Pro492Arg)
c.1082C>G (p.Pro361Arg)
c.1544C>G (p.Pro515Arg)
c.1478C>G (p.Pro493Arg)
c.509C>G (p.Pro170Arg)
20g.63414118G=CA2374778297KCNQ2c.1547C= (p.Pro516=)
c.1601C= (p.Pro534=)
c.998C= (p.Pro333=)
c.1508C= (p.Pro503=)
c.1169C= (p.Pro390=)
c.1517C= (p.Pro506=)
c.1481C= (p.Pro494=)
c.658C=
c.209C= (p.Pro70=)
c.1598C= (p.Pro533=)
c.1571C= (p.Pro524=)
c.1475C= (p.Pro492=)
c.1082C= (p.Pro361=)
c.1544C= (p.Pro515=)
c.1478C= (p.Pro493=)
c.509C= (p.Pro170=)
20g.63414118G>TCA409645248KCNQ2c.1547C>A (p.Pro516Gln)
c.1601C>A (p.Pro534Gln)
c.998C>A (p.Pro333Gln)
c.1508C>A (p.Pro503Gln)
c.1169C>A (p.Pro390Gln)
c.1517C>A (p.Pro506Gln)
c.1481C>A (p.Pro494Gln)
c.658C>A
c.209C>A (p.Pro70Gln)
c.1598C>A (p.Pro533Gln)
c.1571C>A (p.Pro524Gln)
c.1475C>A (p.Pro492Gln)
c.1082C>A (p.Pro361Gln)
c.1544C>A (p.Pro515Gln)
c.1478C>A (p.Pro493Gln)
c.509C>A (p.Pro170Gln)
 gnomAD v4
20g.63414121delCA2697547456KCNQ2c.1547del (p.Pro516ArgfsTer?)
c.1601del (p.Pro534ArgfsTer?)
c.998del (p.Pro333ArgfsTer?)
c.1508del (p.Pro503ArgfsTer?)
c.1169del (p.Pro390ArgfsTer?)
c.1517del (p.Pro506ArgfsTer?)
c.1481del (p.Pro494ArgfsTer?)
c.658del
c.209del (p.Pro70ArgfsTer?)
c.1598del (p.Pro533ArgfsTer?)
c.1571del (p.Pro524ArgfsTer?)
c.1475del (p.Pro492ArgfsTer?)
c.1082del (p.Pro361ArgfsTer?)
c.1544del (p.Pro515ArgfsTer?)
c.1478del (p.Pro493ArgfsTer?)
c.509del (p.Pro170ArgfsTer?)
 ClinVar
20g.63414119G>ACA9958398KCNQ2c.1546C>T (p.Pro516Ser)
c.1600C>T (p.Pro534Ser)
c.997C>T (p.Pro333Ser)
c.1507C>T (p.Pro503Ser)
c.1168C>T (p.Pro390Ser)
c.1516C>T (p.Pro506Ser)
c.1480C>T (p.Pro494Ser)
c.657C>T
c.208C>T (p.Pro70Ser)
c.1597C>T (p.Pro533Ser)
c.1570C>T (p.Pro524Ser)
c.1474C>T (p.Pro492Ser)
c.1081C>T (p.Pro361Ser)
c.1543C>T (p.Pro515Ser)
c.1477C>T (p.Pro493Ser)
c.508C>T (p.Pro170Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414119G>CCA409645253KCNQ2c.1546C>G (p.Pro516Ala)
c.1600C>G (p.Pro534Ala)
c.997C>G (p.Pro333Ala)
c.1507C>G (p.Pro503Ala)
c.1168C>G (p.Pro390Ala)
c.1516C>G (p.Pro506Ala)
c.1480C>G (p.Pro494Ala)
c.657C>G
c.208C>G (p.Pro70Ala)
c.1597C>G (p.Pro533Ala)
c.1570C>G (p.Pro524Ala)
c.1474C>G (p.Pro492Ala)
c.1081C>G (p.Pro361Ala)
c.1543C>G (p.Pro515Ala)
c.1477C>G (p.Pro493Ala)
c.508C>G (p.Pro170Ala)
20g.63414119G=CA2374778298KCNQ2c.1546C= (p.Pro516=)
c.1600C= (p.Pro534=)
c.997C= (p.Pro333=)
c.1507C= (p.Pro503=)
c.1168C= (p.Pro390=)
c.1516C= (p.Pro506=)
c.1480C= (p.Pro494=)
c.657C=
c.208C= (p.Pro70=)
c.1597C= (p.Pro533=)
c.1570C= (p.Pro524=)
c.1474C= (p.Pro492=)
c.1081C= (p.Pro361=)
c.1543C= (p.Pro515=)
c.1477C= (p.Pro493=)
c.508C= (p.Pro170=)
20g.63414119G>TCA409645259KCNQ2c.1546C>A (p.Pro516Thr)
c.1600C>A (p.Pro534Thr)
c.997C>A (p.Pro333Thr)
c.1507C>A (p.Pro503Thr)
c.1168C>A (p.Pro390Thr)
c.1516C>A (p.Pro506Thr)
c.1480C>A (p.Pro494Thr)
c.657C>A
c.208C>A (p.Pro70Thr)
c.1597C>A (p.Pro533Thr)
c.1570C>A (p.Pro524Thr)
c.1474C>A (p.Pro492Thr)
c.1081C>A (p.Pro361Thr)
c.1543C>A (p.Pro515Thr)
c.1477C>A (p.Pro493Thr)
c.508C>A (p.Pro170Thr)
 COSMIC COSMIC COSMIC
20g.63414120G>ACA511203883KCNQ2c.1545C>T (p.Thr515=)
c.1599C>T (p.Thr533=)
c.996C>T (p.Thr332=)
c.1506C>T (p.Thr502=)
c.1167C>T (p.Thr389=)
c.1515C>T (p.Thr505=)
c.1479C>T (p.Thr493=)
c.656C>T
c.207C>T (p.Thr69=)
c.1596C>T (p.Thr532=)
c.1569C>T (p.Thr523=)
c.1473C>T (p.Thr491=)
c.1080C>T (p.Thr360=)
c.1542C>T (p.Thr514=)
c.1476C>T (p.Thr492=)
c.507C>T (p.Thr169=)
 dbSNP gnomAD v3 gnomAD v4
20g.63414120G>CCA511203881KCNQ2c.1545C>G (p.Thr515=)
c.1599C>G (p.Thr533=)
c.996C>G (p.Thr332=)
c.1506C>G (p.Thr502=)
c.1167C>G (p.Thr389=)
c.1515C>G (p.Thr505=)
c.1479C>G (p.Thr493=)
c.656C>G
c.207C>G (p.Thr69=)
c.1596C>G (p.Thr532=)
c.1569C>G (p.Thr523=)
c.1473C>G (p.Thr491=)
c.1080C>G (p.Thr360=)
c.1542C>G (p.Thr514=)
c.1476C>G (p.Thr492=)
c.507C>G (p.Thr169=)
20g.63414120G=CA2374778299KCNQ2c.1545C= (p.Thr515=)
c.1599C= (p.Thr533=)
c.996C= (p.Thr332=)
c.1506C= (p.Thr502=)
c.1167C= (p.Thr389=)
c.1515C= (p.Thr505=)
c.1479C= (p.Thr493=)
c.656C=
c.207C= (p.Thr69=)
c.1596C= (p.Thr532=)
c.1569C= (p.Thr523=)
c.1473C= (p.Thr491=)
c.1080C= (p.Thr360=)
c.1542C= (p.Thr514=)
c.1476C= (p.Thr492=)
c.507C= (p.Thr169=)
20g.63414120G>TCA511203882KCNQ2c.1545C>A (p.Thr515=)
c.1599C>A (p.Thr533=)
c.996C>A (p.Thr332=)
c.1506C>A (p.Thr502=)
c.1167C>A (p.Thr389=)
c.1515C>A (p.Thr505=)
c.1479C>A (p.Thr493=)
c.656C>A
c.207C>A (p.Thr69=)
c.1596C>A (p.Thr532=)
c.1569C>A (p.Thr523=)
c.1473C>A (p.Thr491=)
c.1080C>A (p.Thr360=)
c.1542C>A (p.Thr514=)
c.1476C>A (p.Thr492=)
c.507C>A (p.Thr169=)
20g.63414121G>ACA409645274KCNQ2c.1544C>T (p.Thr515Ile)
c.1598C>T (p.Thr533Ile)
c.995C>T (p.Thr332Ile)
c.1505C>T (p.Thr502Ile)
c.1166C>T (p.Thr389Ile)
c.1514C>T (p.Thr505Ile)
c.1478C>T (p.Thr493Ile)
c.655C>T
c.206C>T (p.Thr69Ile)
c.1595C>T (p.Thr532Ile)
c.1568C>T (p.Thr523Ile)
c.1472C>T (p.Thr491Ile)
c.1079C>T (p.Thr360Ile)
c.1541C>T (p.Thr514Ile)
c.1475C>T (p.Thr492Ile)
c.506C>T (p.Thr169Ile)
20g.63414121G>CCA409645277KCNQ2c.1544C>G (p.Thr515Ser)
c.1598C>G (p.Thr533Ser)
c.995C>G (p.Thr332Ser)
c.1505C>G (p.Thr502Ser)
c.1166C>G (p.Thr389Ser)
c.1514C>G (p.Thr505Ser)
c.1478C>G (p.Thr493Ser)
c.655C>G
c.206C>G (p.Thr69Ser)
c.1595C>G (p.Thr532Ser)
c.1568C>G (p.Thr523Ser)
c.1472C>G (p.Thr491Ser)
c.1079C>G (p.Thr360Ser)
c.1541C>G (p.Thr514Ser)
c.1475C>G (p.Thr492Ser)
c.506C>G (p.Thr169Ser)
20g.63414121G>TCA409645262KCNQ2c.1544C>A (p.Thr515Asn)
c.1598C>A (p.Thr533Asn)
c.995C>A (p.Thr332Asn)
c.1505C>A (p.Thr502Asn)
c.1166C>A (p.Thr389Asn)
c.1514C>A (p.Thr505Asn)
c.1478C>A (p.Thr493Asn)
c.655C>A
c.206C>A (p.Thr69Asn)
c.1595C>A (p.Thr532Asn)
c.1568C>A (p.Thr523Asn)
c.1472C>A (p.Thr491Asn)
c.1079C>A (p.Thr360Asn)
c.1541C>A (p.Thr514Asn)
c.1475C>A (p.Thr492Asn)
c.506C>A (p.Thr169Asn)
 ClinVar
20g.63414122T>ACA409645280KCNQ2c.1543A>T (p.Thr515Ser)
c.1597A>T (p.Thr533Ser)
c.994A>T (p.Thr332Ser)
c.1504A>T (p.Thr502Ser)
c.1165A>T (p.Thr389Ser)
c.1513A>T (p.Thr505Ser)
c.1477A>T (p.Thr493Ser)
c.654A>T
c.205A>T (p.Thr69Ser)
c.1594A>T (p.Thr532Ser)
c.1567A>T (p.Thr523Ser)
c.1471A>T (p.Thr491Ser)
c.1078A>T (p.Thr360Ser)
c.1540A>T (p.Thr514Ser)
c.1474A>T (p.Thr492Ser)
c.505A>T (p.Thr169Ser)
20g.63414122T>CCA409645283KCNQ2c.1543A>G (p.Thr515Ala)
c.1597A>G (p.Thr533Ala)
c.994A>G (p.Thr332Ala)
c.1504A>G (p.Thr502Ala)
c.1165A>G (p.Thr389Ala)
c.1513A>G (p.Thr505Ala)
c.1477A>G (p.Thr493Ala)
c.654A>G
c.205A>G (p.Thr69Ala)
c.1594A>G (p.Thr532Ala)
c.1567A>G (p.Thr523Ala)
c.1471A>G (p.Thr491Ala)
c.1078A>G (p.Thr360Ala)
c.1540A>G (p.Thr514Ala)
c.1474A>G (p.Thr492Ala)
c.505A>G (p.Thr169Ala)
20g.63414122T>GCA409645296KCNQ2c.1543A>C (p.Thr515Pro)
c.1597A>C (p.Thr533Pro)
c.994A>C (p.Thr332Pro)
c.1504A>C (p.Thr502Pro)
c.1165A>C (p.Thr389Pro)
c.1513A>C (p.Thr505Pro)
c.1477A>C (p.Thr493Pro)
c.654A>C
c.205A>C (p.Thr69Pro)
c.1594A>C (p.Thr532Pro)
c.1567A>C (p.Thr523Pro)
c.1471A>C (p.Thr491Pro)
c.1078A>C (p.Thr360Pro)
c.1540A>C (p.Thr514Pro)
c.1474A>C (p.Thr492Pro)
c.505A>C (p.Thr169Pro)
 dbSNP
20g.63414122T=CA2374778300KCNQ2c.1543A= (p.Thr515=)
c.1597A= (p.Thr533=)
c.994A= (p.Thr332=)
c.1504A= (p.Thr502=)
c.1165A= (p.Thr389=)
c.1513A= (p.Thr505=)
c.1477A= (p.Thr493=)
c.654A=
c.205A= (p.Thr69=)
c.1594A= (p.Thr532=)
c.1567A= (p.Thr523=)
c.1471A= (p.Thr491=)
c.1078A= (p.Thr360=)
c.1540A= (p.Thr514=)
c.1474A= (p.Thr492=)
c.505A= (p.Thr169=)
20g.63414123C>ACA511203884KCNQ2c.1542G>T (p.Leu514=)
c.1596G>T (p.Leu532=)
c.993G>T (p.Leu331=)
c.1503G>T (p.Leu501=)
c.1164G>T (p.Leu388=)
c.1512G>T (p.Leu504=)
c.1476G>T (p.Leu492=)
c.653G>T
c.204G>T (p.Leu68=)
c.1593G>T (p.Leu531=)
c.1566G>T (p.Leu522=)
c.1470G>T (p.Leu490=)
c.1077G>T (p.Leu359=)
c.1539G>T (p.Leu513=)
c.1473G>T (p.Leu491=)
c.504G>T (p.Leu168=)
20g.63414123C>GCA511203886KCNQ2c.1542G>C (p.Leu514=)
c.1596G>C (p.Leu532=)
c.993G>C (p.Leu331=)
c.1503G>C (p.Leu501=)
c.1164G>C (p.Leu388=)
c.1512G>C (p.Leu504=)
c.1476G>C (p.Leu492=)
c.653G>C
c.204G>C (p.Leu68=)
c.1593G>C (p.Leu531=)
c.1566G>C (p.Leu522=)
c.1470G>C (p.Leu490=)
c.1077G>C (p.Leu359=)
c.1539G>C (p.Leu513=)
c.1473G>C (p.Leu491=)
c.504G>C (p.Leu168=)
20g.63414123C>TCA511203885KCNQ2c.1542G>A (p.Leu514=)
c.1596G>A (p.Leu532=)
c.993G>A (p.Leu331=)
c.1503G>A (p.Leu501=)
c.1164G>A (p.Leu388=)
c.1512G>A (p.Leu504=)
c.1476G>A (p.Leu492=)
c.653G>A
c.204G>A (p.Leu68=)
c.1593G>A (p.Leu531=)
c.1566G>A (p.Leu522=)
c.1470G>A (p.Leu490=)
c.1077G>A (p.Leu359=)
c.1539G>A (p.Leu513=)
c.1473G>A (p.Leu491=)
c.504G>A (p.Leu168=)
20g.63414124A=CA2374778301KCNQ2c.1541T= (p.Leu514=)
c.1595T= (p.Leu532=)
c.992T= (p.Leu331=)
c.1502T= (p.Leu501=)
c.1163T= (p.Leu388=)
c.1511T= (p.Leu504=)
c.1475T= (p.Leu492=)
c.652T=
c.203T= (p.Leu68=)
c.1592T= (p.Leu531=)
c.1565T= (p.Leu522=)
c.1469T= (p.Leu490=)
c.1076T= (p.Leu359=)
c.1538T= (p.Leu513=)
c.1472T= (p.Leu491=)
c.503T= (p.Leu168=)
20g.63414124A>CCA409645299KCNQ2c.1541T>G (p.Leu514Arg)
c.1595T>G (p.Leu532Arg)
c.992T>G (p.Leu331Arg)
c.1502T>G (p.Leu501Arg)
c.1163T>G (p.Leu388Arg)
c.1511T>G (p.Leu504Arg)
c.1475T>G (p.Leu492Arg)
c.652T>G
c.203T>G (p.Leu68Arg)
c.1592T>G (p.Leu531Arg)
c.1565T>G (p.Leu522Arg)
c.1469T>G (p.Leu490Arg)
c.1076T>G (p.Leu359Arg)
c.1538T>G (p.Leu513Arg)
c.1472T>G (p.Leu491Arg)
c.503T>G (p.Leu168Arg)
20g.63414124A>GCA409645303KCNQ2c.1541T>C (p.Leu514Pro)
c.1595T>C (p.Leu532Pro)
c.992T>C (p.Leu331Pro)
c.1502T>C (p.Leu501Pro)
c.1163T>C (p.Leu388Pro)
c.1511T>C (p.Leu504Pro)
c.1475T>C (p.Leu492Pro)
c.652T>C
c.203T>C (p.Leu68Pro)
c.1592T>C (p.Leu531Pro)
c.1565T>C (p.Leu522Pro)
c.1469T>C (p.Leu490Pro)
c.1076T>C (p.Leu359Pro)
c.1538T>C (p.Leu513Pro)
c.1472T>C (p.Leu491Pro)
c.503T>C (p.Leu168Pro)
 dbSNP gnomAD v3 gnomAD v4
20g.63414124A>TCA409645305KCNQ2c.1541T>A (p.Leu514Gln)
c.1595T>A (p.Leu532Gln)
c.992T>A (p.Leu331Gln)
c.1502T>A (p.Leu501Gln)
c.1163T>A (p.Leu388Gln)
c.1511T>A (p.Leu504Gln)
c.1475T>A (p.Leu492Gln)
c.652T>A
c.203T>A (p.Leu68Gln)
c.1592T>A (p.Leu531Gln)
c.1565T>A (p.Leu522Gln)
c.1469T>A (p.Leu490Gln)
c.1076T>A (p.Leu359Gln)
c.1538T>A (p.Leu513Gln)
c.1472T>A (p.Leu491Gln)
c.503T>A (p.Leu168Gln)
20g.63414125G>ACA511203887KCNQ2c.1540C>T (p.Leu514=)
c.1594C>T (p.Leu532=)
c.991C>T (p.Leu331=)
c.1501C>T (p.Leu501=)
c.1162C>T (p.Leu388=)
c.1510C>T (p.Leu504=)
c.1474C>T (p.Leu492=)
c.651C>T
c.202C>T (p.Leu68=)
c.1591C>T (p.Leu531=)
c.1564C>T (p.Leu522=)
c.1468C>T (p.Leu490=)
c.1075C>T (p.Leu359=)
c.1537C>T (p.Leu513=)
c.1471C>T (p.Leu491=)
c.502C>T (p.Leu168=)
20g.63414125G>CCA409645309KCNQ2c.1540C>G (p.Leu514Val)
c.1594C>G (p.Leu532Val)
c.991C>G (p.Leu331Val)
c.1501C>G (p.Leu501Val)
c.1162C>G (p.Leu388Val)
c.1510C>G (p.Leu504Val)
c.1474C>G (p.Leu492Val)
c.651C>G
c.202C>G (p.Leu68Val)
c.1591C>G (p.Leu531Val)
c.1564C>G (p.Leu522Val)
c.1468C>G (p.Leu490Val)
c.1075C>G (p.Leu359Val)
c.1537C>G (p.Leu513Val)
c.1471C>G (p.Leu491Val)
c.502C>G (p.Leu168Val)
 gnomAD v4
20g.63414125G>TCA409645314KCNQ2c.1540C>A (p.Leu514Met)
c.1594C>A (p.Leu532Met)
c.991C>A (p.Leu331Met)
c.1501C>A (p.Leu501Met)
c.1162C>A (p.Leu388Met)
c.1510C>A (p.Leu504Met)
c.1474C>A (p.Leu492Met)
c.651C>A
c.202C>A (p.Leu68Met)
c.1591C>A (p.Leu531Met)
c.1564C>A (p.Leu522Met)
c.1468C>A (p.Leu490Met)
c.1075C>A (p.Leu359Met)
c.1537C>A (p.Leu513Met)
c.1471C>A (p.Leu491Met)
c.502C>A (p.Leu168Met)
20g.63414126G>ACA511203888KCNQ2c.1539C>T (p.Asp513=)
c.1593C>T (p.Asp531=)
c.990C>T (p.Asp330=)
c.1500C>T (p.Asp500=)
c.1161C>T (p.Asp387=)
c.1509C>T (p.Asp503=)
c.1473C>T (p.Asp491=)
c.650C>T
c.201C>T (p.Asp67=)
c.1590C>T (p.Asp530=)
c.1563C>T (p.Asp521=)
c.1467C>T (p.Asp489=)
c.1074C>T (p.Asp358=)
c.1536C>T (p.Asp512=)
c.1470C>T (p.Asp490=)
c.501C>T (p.Asp167=)
 ClinVar dbSNP
20g.63414126G>CCA409645317KCNQ2c.1539C>G (p.Asp513Glu)
c.1593C>G (p.Asp531Glu)
c.990C>G (p.Asp330Glu)
c.1500C>G (p.Asp500Glu)
c.1161C>G (p.Asp387Glu)
c.1509C>G (p.Asp503Glu)
c.1473C>G (p.Asp491Glu)
c.650C>G
c.201C>G (p.Asp67Glu)
c.1590C>G (p.Asp530Glu)
c.1563C>G (p.Asp521Glu)
c.1467C>G (p.Asp489Glu)
c.1074C>G (p.Asp358Glu)
c.1536C>G (p.Asp512Glu)
c.1470C>G (p.Asp490Glu)
c.501C>G (p.Asp167Glu)
20g.63414126G=CA2374778302KCNQ2c.1539C= (p.Asp513=)
c.1593C= (p.Asp531=)
c.990C= (p.Asp330=)
c.1500C= (p.Asp500=)
c.1161C= (p.Asp387=)
c.1509C= (p.Asp503=)
c.1473C= (p.Asp491=)
c.650C=
c.201C= (p.Asp67=)
c.1590C= (p.Asp530=)
c.1563C= (p.Asp521=)
c.1467C= (p.Asp489=)
c.1074C= (p.Asp358=)
c.1536C= (p.Asp512=)
c.1470C= (p.Asp490=)
c.501C= (p.Asp167=)
20g.63414126G>TCA409645320KCNQ2c.1539C>A (p.Asp513Glu)
c.1593C>A (p.Asp531Glu)
c.990C>A (p.Asp330Glu)
c.1500C>A (p.Asp500Glu)
c.1161C>A (p.Asp387Glu)
c.1509C>A (p.Asp503Glu)
c.1473C>A (p.Asp491Glu)
c.650C>A
c.201C>A (p.Asp67Glu)
c.1590C>A (p.Asp530Glu)
c.1563C>A (p.Asp521Glu)
c.1467C>A (p.Asp489Glu)
c.1074C>A (p.Asp358Glu)
c.1536C>A (p.Asp512Glu)
c.1470C>A (p.Asp490Glu)
c.501C>A (p.Asp167Glu)
20g.63414127T>ACA409645327KCNQ2c.1538A>T (p.Asp513Val)
c.1592A>T (p.Asp531Val)
c.989A>T (p.Asp330Val)
c.1499A>T (p.Asp500Val)
c.1160A>T (p.Asp387Val)
c.1508A>T (p.Asp503Val)
c.1472A>T (p.Asp491Val)
c.649A>T
c.200A>T (p.Asp67Val)
c.1589A>T (p.Asp530Val)
c.1562A>T (p.Asp521Val)
c.1466A>T (p.Asp489Val)
c.1073A>T (p.Asp358Val)
c.1535A>T (p.Asp512Val)
c.1469A>T (p.Asp490Val)
c.500A>T (p.Asp167Val)
 ClinVar dbSNP
20g.63414127T>CCA409645344KCNQ2c.1538A>G (p.Asp513Gly)
c.1592A>G (p.Asp531Gly)
c.989A>G (p.Asp330Gly)
c.1499A>G (p.Asp500Gly)
c.1160A>G (p.Asp387Gly)
c.1508A>G (p.Asp503Gly)
c.1472A>G (p.Asp491Gly)
c.649A>G
c.200A>G (p.Asp67Gly)
c.1589A>G (p.Asp530Gly)
c.1562A>G (p.Asp521Gly)
c.1466A>G (p.Asp489Gly)
c.1073A>G (p.Asp358Gly)
c.1535A>G (p.Asp512Gly)
c.1469A>G (p.Asp490Gly)
c.500A>G (p.Asp167Gly)
20g.63414127T>GCA409645347KCNQ2c.1538A>C (p.Asp513Ala)
c.1592A>C (p.Asp531Ala)
c.989A>C (p.Asp330Ala)
c.1499A>C (p.Asp500Ala)
c.1160A>C (p.Asp387Ala)
c.1508A>C (p.Asp503Ala)
c.1472A>C (p.Asp491Ala)
c.649A>C
c.200A>C (p.Asp67Ala)
c.1589A>C (p.Asp530Ala)
c.1562A>C (p.Asp521Ala)
c.1466A>C (p.Asp489Ala)
c.1073A>C (p.Asp358Ala)
c.1535A>C (p.Asp512Ala)
c.1469A>C (p.Asp490Ala)
c.500A>C (p.Asp167Ala)
20g.63414127T=CA2374778303KCNQ2c.1538A= (p.Asp513=)
c.1592A= (p.Asp531=)
c.989A= (p.Asp330=)
c.1499A= (p.Asp500=)
c.1160A= (p.Asp387=)
c.1508A= (p.Asp503=)
c.1472A= (p.Asp491=)
c.649A=
c.200A= (p.Asp67=)
c.1589A= (p.Asp530=)
c.1562A= (p.Asp521=)
c.1466A= (p.Asp489=)
c.1073A= (p.Asp358=)
c.1535A= (p.Asp512=)
c.1469A= (p.Asp490=)
c.500A= (p.Asp167=)
20g.63414128C>ACA409645355KCNQ2c.1537G>T (p.Asp513Tyr)
c.1591G>T (p.Asp531Tyr)
c.988G>T (p.Asp330Tyr)
c.1498G>T (p.Asp500Tyr)
c.1159G>T (p.Asp387Tyr)
c.1507G>T (p.Asp503Tyr)
c.1471G>T (p.Asp491Tyr)
c.648G>T
c.199G>T (p.Asp67Tyr)
c.1588G>T (p.Asp530Tyr)
c.1561G>T (p.Asp521Tyr)
c.1465G>T (p.Asp489Tyr)
c.1072G>T (p.Asp358Tyr)
c.1534G>T (p.Asp512Tyr)
c.1468G>T (p.Asp490Tyr)
c.499G>T (p.Asp167Tyr)
20g.63414128C>GCA409645350KCNQ2c.1537G>C (p.Asp513His)
c.1591G>C (p.Asp531His)
c.988G>C (p.Asp330His)
c.1498G>C (p.Asp500His)
c.1159G>C (p.Asp387His)
c.1507G>C (p.Asp503His)
c.1471G>C (p.Asp491His)
c.648G>C
c.199G>C (p.Asp67His)
c.1588G>C (p.Asp530His)
c.1561G>C (p.Asp521His)
c.1465G>C (p.Asp489His)
c.1072G>C (p.Asp358His)
c.1534G>C (p.Asp512His)
c.1468G>C (p.Asp490His)
c.499G>C (p.Asp167His)
20g.63414128C>TCA409645353KCNQ2c.1537G>A (p.Asp513Asn)
c.1591G>A (p.Asp531Asn)
c.988G>A (p.Asp330Asn)
c.1498G>A (p.Asp500Asn)
c.1159G>A (p.Asp387Asn)
c.1507G>A (p.Asp503Asn)
c.1471G>A (p.Asp491Asn)
c.648G>A
c.199G>A (p.Asp67Asn)
c.1588G>A (p.Asp530Asn)
c.1561G>A (p.Asp521Asn)
c.1465G>A (p.Asp489Asn)
c.1072G>A (p.Asp358Asn)
c.1534G>A (p.Asp512Asn)
c.1468G>A (p.Asp490Asn)
c.499G>A (p.Asp167Asn)
20g.63414129C>ACA409645362KCNQ2c.1536G>T (p.Glu512Asp)
c.1590G>T (p.Glu530Asp)
c.987G>T (p.Glu329Asp)
c.1497G>T (p.Glu499Asp)
c.1158G>T (p.Glu386Asp)
c.1506G>T (p.Glu502Asp)
c.1470G>T (p.Glu490Asp)
c.647G>T
c.198G>T (p.Glu66Asp)
c.1587G>T (p.Glu529Asp)
c.1560G>T (p.Glu520Asp)
c.1464G>T (p.Glu488Asp)
c.1071G>T (p.Glu357Asp)
c.1533G>T (p.Glu511Asp)
c.1467G>T (p.Glu489Asp)
c.498G>T (p.Glu166Asp)
20g.63414129C>GCA409645366KCNQ2c.1536G>C (p.Glu512Asp)
c.1590G>C (p.Glu530Asp)
c.987G>C (p.Glu329Asp)
c.1497G>C (p.Glu499Asp)
c.1158G>C (p.Glu386Asp)
c.1506G>C (p.Glu502Asp)
c.1470G>C (p.Glu490Asp)
c.647G>C
c.198G>C (p.Glu66Asp)
c.1587G>C (p.Glu529Asp)
c.1560G>C (p.Glu520Asp)
c.1464G>C (p.Glu488Asp)
c.1071G>C (p.Glu357Asp)
c.1533G>C (p.Glu511Asp)
c.1467G>C (p.Glu489Asp)
c.498G>C (p.Glu166Asp)
20g.63414129C>TCA511203892KCNQ2c.1536G>A (p.Glu512=)
c.1590G>A (p.Glu530=)
c.987G>A (p.Glu329=)
c.1497G>A (p.Glu499=)
c.1158G>A (p.Glu386=)
c.1506G>A (p.Glu502=)
c.1470G>A (p.Glu490=)
c.647G>A
c.198G>A (p.Glu66=)
c.1587G>A (p.Glu529=)
c.1560G>A (p.Glu520=)
c.1464G>A (p.Glu488=)
c.1071G>A (p.Glu357=)
c.1533G>A (p.Glu511=)
c.1467G>A (p.Glu489=)
c.498G>A (p.Glu166=)
 gnomAD v4
20g.63414130T>ACA409645369KCNQ2c.1535A>T (p.Glu512Val)
c.1589A>T (p.Glu530Val)
c.986A>T (p.Glu329Val)
c.1496A>T (p.Glu499Val)
c.1157A>T (p.Glu386Val)
c.1505A>T (p.Glu502Val)
c.1469A>T (p.Glu490Val)
c.646A>T
c.197A>T (p.Glu66Val)
c.1586A>T (p.Glu529Val)
c.1559A>T (p.Glu520Val)
c.1463A>T (p.Glu488Val)
c.1070A>T (p.Glu357Val)
c.1532A>T (p.Glu511Val)
c.1466A>T (p.Glu489Val)
c.497A>T (p.Glu166Val)
20g.63414130T>CCA409645370KCNQ2c.1535A>G (p.Glu512Gly)
c.1589A>G (p.Glu530Gly)
c.986A>G (p.Glu329Gly)
c.1496A>G (p.Glu499Gly)
c.1157A>G (p.Glu386Gly)
c.1505A>G (p.Glu502Gly)
c.1469A>G (p.Glu490Gly)
c.646A>G
c.197A>G (p.Glu66Gly)
c.1586A>G (p.Glu529Gly)
c.1559A>G (p.Glu520Gly)
c.1463A>G (p.Glu488Gly)
c.1070A>G (p.Glu357Gly)
c.1532A>G (p.Glu511Gly)
c.1466A>G (p.Glu489Gly)
c.497A>G (p.Glu166Gly)
20g.63414130T>GCA9958399KCNQ2c.1535A>C (p.Glu512Ala)
c.1589A>C (p.Glu530Ala)
c.986A>C (p.Glu329Ala)
c.1496A>C (p.Glu499Ala)
c.1157A>C (p.Glu386Ala)
c.1505A>C (p.Glu502Ala)
c.1469A>C (p.Glu490Ala)
c.646A>C
c.197A>C (p.Glu66Ala)
c.1586A>C (p.Glu529Ala)
c.1559A>C (p.Glu520Ala)
c.1463A>C (p.Glu488Ala)
c.1070A>C (p.Glu357Ala)
c.1532A>C (p.Glu511Ala)
c.1466A>C (p.Glu489Ala)
c.497A>C (p.Glu166Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414130T=CA2374778304KCNQ2c.1535A= (p.Glu512=)
c.1589A= (p.Glu530=)
c.986A= (p.Glu329=)
c.1496A= (p.Glu499=)
c.1157A= (p.Glu386=)
c.1505A= (p.Glu502=)
c.1469A= (p.Glu490=)
c.646A=
c.197A= (p.Glu66=)
c.1586A= (p.Glu529=)
c.1559A= (p.Glu520=)
c.1463A= (p.Glu488=)
c.1070A= (p.Glu357=)
c.1532A= (p.Glu511=)
c.1466A= (p.Glu489=)
c.497A= (p.Glu166=)
20g.63414131C>ACA409645372KCNQ2c.1534G>T (p.Glu512Ter)
c.1588G>T (p.Glu530Ter)
c.985G>T (p.Glu329Ter)
c.1495G>T (p.Glu499Ter)
c.1156G>T (p.Glu386Ter)
c.1504G>T (p.Glu502Ter)
c.1468G>T (p.Glu490Ter)
c.645G>T
c.196G>T (p.Glu66Ter)
c.1585G>T (p.Glu529Ter)
c.1558G>T (p.Glu520Ter)
c.1462G>T (p.Glu488Ter)
c.1069G>T (p.Glu357Ter)
c.1531G>T (p.Glu511Ter)
c.1465G>T (p.Glu489Ter)
c.496G>T (p.Glu166Ter)
20g.63414131C=CA2374778305KCNQ2c.1534G= (p.Glu512=)
c.1588G= (p.Glu530=)
c.985G= (p.Glu329=)
c.1495G= (p.Glu499=)
c.1156G= (p.Glu386=)
c.1504G= (p.Glu502=)
c.1468G= (p.Glu490=)
c.645G=
c.196G= (p.Glu66=)
c.1585G= (p.Glu529=)
c.1558G= (p.Glu520=)
c.1462G= (p.Glu488=)
c.1069G= (p.Glu357=)
c.1531G= (p.Glu511=)
c.1465G= (p.Glu489=)
c.496G= (p.Glu166=)
20g.63414131C>GCA409645375KCNQ2c.1534G>C (p.Glu512Gln)
c.1588G>C (p.Glu530Gln)
c.985G>C (p.Glu329Gln)
c.1495G>C (p.Glu499Gln)
c.1156G>C (p.Glu386Gln)
c.1504G>C (p.Glu502Gln)
c.1468G>C (p.Glu490Gln)
c.645G>C
c.196G>C (p.Glu66Gln)
c.1585G>C (p.Glu529Gln)
c.1558G>C (p.Glu520Gln)
c.1462G>C (p.Glu488Gln)
c.1069G>C (p.Glu357Gln)
c.1531G>C (p.Glu511Gln)
c.1465G>C (p.Glu489Gln)
c.496G>C (p.Glu166Gln)
20g.63414131C>TCA317429754KCNQ2c.1534G>A (p.Glu512Lys)
c.1588G>A (p.Glu530Lys)
c.985G>A (p.Glu329Lys)
c.1495G>A (p.Glu499Lys)
c.1156G>A (p.Glu386Lys)
c.1504G>A (p.Glu502Lys)
c.1468G>A (p.Glu490Lys)
c.645G>A
c.196G>A (p.Glu66Lys)
c.1585G>A (p.Glu529Lys)
c.1558G>A (p.Glu520Lys)
c.1462G>A (p.Glu488Lys)
c.1069G>A (p.Glu357Lys)
c.1531G>A (p.Glu511Lys)
c.1465G>A (p.Glu489Lys)
c.496G>A (p.Glu166Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63414132G>ACA9958400KCNQ2c.1533C>T (p.Thr511=)
c.1587C>T (p.Thr529=)
c.984C>T (p.Thr328=)
c.1494C>T (p.Thr498=)
c.1155C>T (p.Thr385=)
c.1503C>T (p.Thr501=)
c.1467C>T (p.Thr489=)
c.644C>T
c.195C>T (p.Thr65=)
c.1584C>T (p.Thr528=)
c.1557C>T (p.Thr519=)
c.1461C>T (p.Thr487=)
c.1068C>T (p.Thr356=)
c.1530C>T (p.Thr510=)
c.1464C>T (p.Thr488=)
c.495C>T (p.Thr165=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414132G>CCA511203895KCNQ2c.1533C>G (p.Thr511=)
c.1587C>G (p.Thr529=)
c.984C>G (p.Thr328=)
c.1494C>G (p.Thr498=)
c.1155C>G (p.Thr385=)
c.1503C>G (p.Thr501=)
c.1467C>G (p.Thr489=)
c.644C>G
c.195C>G (p.Thr65=)
c.1584C>G (p.Thr528=)
c.1557C>G (p.Thr519=)
c.1461C>G (p.Thr487=)
c.1068C>G (p.Thr356=)
c.1530C>G (p.Thr510=)
c.1464C>G (p.Thr488=)
c.495C>G (p.Thr165=)
 gnomAD v4
20g.63414132G=CA2374778306KCNQ2c.1533C= (p.Thr511=)
c.1587C= (p.Thr529=)
c.984C= (p.Thr328=)
c.1494C= (p.Thr498=)
c.1155C= (p.Thr385=)
c.1503C= (p.Thr501=)
c.1467C= (p.Thr489=)
c.644C=
c.195C= (p.Thr65=)
c.1584C= (p.Thr528=)
c.1557C= (p.Thr519=)
c.1461C= (p.Thr487=)
c.1068C= (p.Thr356=)
c.1530C= (p.Thr510=)
c.1464C= (p.Thr488=)
c.495C= (p.Thr165=)
20g.63414132G>TCA511203896KCNQ2c.1533C>A (p.Thr511=)
c.1587C>A (p.Thr529=)
c.984C>A (p.Thr328=)
c.1494C>A (p.Thr498=)
c.1155C>A (p.Thr385=)
c.1503C>A (p.Thr501=)
c.1467C>A (p.Thr489=)
c.644C>A
c.195C>A (p.Thr65=)
c.1584C>A (p.Thr528=)
c.1557C>A (p.Thr519=)
c.1461C>A (p.Thr487=)
c.1068C>A (p.Thr356=)
c.1530C>A (p.Thr510=)
c.1464C>A (p.Thr488=)
c.495C>A (p.Thr165=)
20g.63414133G>ACA409645378KCNQ2c.1532C>T (p.Thr511Ile)
c.1586C>T (p.Thr529Ile)
c.983C>T (p.Thr328Ile)
c.1493C>T (p.Thr498Ile)
c.1154C>T (p.Thr385Ile)
c.1502C>T (p.Thr501Ile)
c.1466C>T (p.Thr489Ile)
c.643C>T
c.194C>T (p.Thr65Ile)
c.1583C>T (p.Thr528Ile)
c.1556C>T (p.Thr519Ile)
c.1460C>T (p.Thr487Ile)
c.1067C>T (p.Thr356Ile)
c.1529C>T (p.Thr510Ile)
c.1463C>T (p.Thr488Ile)
c.494C>T (p.Thr165Ile)
20g.63414133G>CCA409645381KCNQ2c.1532C>G (p.Thr511Ser)
c.1586C>G (p.Thr529Ser)
c.983C>G (p.Thr328Ser)
c.1493C>G (p.Thr498Ser)
c.1154C>G (p.Thr385Ser)
c.1502C>G (p.Thr501Ser)
c.1466C>G (p.Thr489Ser)
c.643C>G
c.194C>G (p.Thr65Ser)
c.1583C>G (p.Thr528Ser)
c.1556C>G (p.Thr519Ser)
c.1460C>G (p.Thr487Ser)
c.1067C>G (p.Thr356Ser)
c.1529C>G (p.Thr510Ser)
c.1463C>G (p.Thr488Ser)
c.494C>G (p.Thr165Ser)
 gnomAD v4
20g.63414133G>TCA409645386KCNQ2c.1532C>A (p.Thr511Asn)
c.1586C>A (p.Thr529Asn)
c.983C>A (p.Thr328Asn)
c.1493C>A (p.Thr498Asn)
c.1154C>A (p.Thr385Asn)
c.1502C>A (p.Thr501Asn)
c.1466C>A (p.Thr489Asn)
c.643C>A
c.194C>A (p.Thr65Asn)
c.1583C>A (p.Thr528Asn)
c.1556C>A (p.Thr519Asn)
c.1460C>A (p.Thr487Asn)
c.1067C>A (p.Thr356Asn)
c.1529C>A (p.Thr510Asn)
c.1463C>A (p.Thr488Asn)
c.494C>A (p.Thr165Asn)
20g.63414134T>ACA409645390KCNQ2c.1531A>T (p.Thr511Ser)
c.1585A>T (p.Thr529Ser)
c.982A>T (p.Thr328Ser)
c.1492A>T (p.Thr498Ser)
c.1153A>T (p.Thr385Ser)
c.1501A>T (p.Thr501Ser)
c.1465A>T (p.Thr489Ser)
c.642A>T
c.193A>T (p.Thr65Ser)
c.1582A>T (p.Thr528Ser)
c.1555A>T (p.Thr519Ser)
c.1459A>T (p.Thr487Ser)
c.1066A>T (p.Thr356Ser)
c.1528A>T (p.Thr510Ser)
c.1462A>T (p.Thr488Ser)
c.493A>T (p.Thr165Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.63414134T>CCA409645395KCNQ2c.1531A>G (p.Thr511Ala)
c.1585A>G (p.Thr529Ala)
c.982A>G (p.Thr328Ala)
c.1492A>G (p.Thr498Ala)
c.1153A>G (p.Thr385Ala)
c.1501A>G (p.Thr501Ala)
c.1465A>G (p.Thr489Ala)
c.642A>G
c.193A>G (p.Thr65Ala)
c.1582A>G (p.Thr528Ala)
c.1555A>G (p.Thr519Ala)
c.1459A>G (p.Thr487Ala)
c.1066A>G (p.Thr356Ala)
c.1528A>G (p.Thr510Ala)
c.1462A>G (p.Thr488Ala)
c.493A>G (p.Thr165Ala)
20g.63414134T>GCA409645388KCNQ2c.1531A>C (p.Thr511Pro)
c.1585A>C (p.Thr529Pro)
c.982A>C (p.Thr328Pro)
c.1492A>C (p.Thr498Pro)
c.1153A>C (p.Thr385Pro)
c.1501A>C (p.Thr501Pro)
c.1465A>C (p.Thr489Pro)
c.642A>C
c.193A>C (p.Thr65Pro)
c.1582A>C (p.Thr528Pro)
c.1555A>C (p.Thr519Pro)
c.1459A>C (p.Thr487Pro)
c.1066A>C (p.Thr356Pro)
c.1528A>C (p.Thr510Pro)
c.1462A>C (p.Thr488Pro)
c.493A>C (p.Thr165Pro)
20g.63414134T=CA2374778307KCNQ2c.1531A= (p.Thr511=)
c.1585A= (p.Thr529=)
c.982A= (p.Thr328=)
c.1492A= (p.Thr498=)
c.1153A= (p.Thr385=)
c.1501A= (p.Thr501=)
c.1465A= (p.Thr489=)
c.642A=
c.193A= (p.Thr65=)
c.1582A= (p.Thr528=)
c.1555A= (p.Thr519=)
c.1459A= (p.Thr487=)
c.1066A= (p.Thr356=)
c.1528A= (p.Thr510=)
c.1462A= (p.Thr488=)
c.493A= (p.Thr165=)
20g.63414134_63414136delinsTCACA2374778308KCNQ2c.1529_1531delinsTGA (p.Val510=)
c.1583_1585delinsTGA (p.Val528=)
c.980_982delinsTGA (p.Val327=)
c.1490_1492delinsTGA (p.Val497=)
c.1151_1153delinsTGA (p.Val384=)
c.1499_1501delinsTGA (p.Val500=)
c.1463_1465delinsTGA (p.Val488=)
c.640_642delinsTGA
c.191_193delinsTGA (p.Val64=)
c.1580_1582delinsTGA (p.Val527=)
c.1553_1555delinsTGA (p.Val518=)
c.1457_1459delinsTGA (p.Val486=)
c.1064_1066delinsTGA (p.Val355=)
c.1526_1528delinsTGA (p.Val509=)
c.1460_1462delinsTGA (p.Val487=)
c.491_493delinsTGA (p.Val164=)
20g.63414135C>ACA511203897KCNQ2c.1530G>T (p.Val510=)
c.1584G>T (p.Val528=)
c.981G>T (p.Val327=)
c.1491G>T (p.Val497=)
c.1152G>T (p.Val384=)
c.1500G>T (p.Val500=)
c.1464G>T (p.Val488=)
c.641G>T
c.192G>T (p.Val64=)
c.1581G>T (p.Val527=)
c.1554G>T (p.Val518=)
c.1458G>T (p.Val486=)
c.1065G>T (p.Val355=)
c.1527G>T (p.Val509=)
c.1461G>T (p.Val487=)
c.492G>T (p.Val164=)
20g.63414135C>GCA511203898KCNQ2c.1530G>C (p.Val510=)
c.1584G>C (p.Val528=)
c.981G>C (p.Val327=)
c.1491G>C (p.Val497=)
c.1152G>C (p.Val384=)
c.1500G>C (p.Val500=)
c.1464G>C (p.Val488=)
c.641G>C
c.192G>C (p.Val64=)
c.1581G>C (p.Val527=)
c.1554G>C (p.Val518=)
c.1458G>C (p.Val486=)
c.1065G>C (p.Val355=)
c.1527G>C (p.Val509=)
c.1461G>C (p.Val487=)
c.492G>C (p.Val164=)
20g.63414135C>TCA511203899KCNQ2c.1530G>A (p.Val510=)
c.1584G>A (p.Val528=)
c.981G>A (p.Val327=)
c.1491G>A (p.Val497=)
c.1152G>A (p.Val384=)
c.1500G>A (p.Val500=)
c.1464G>A (p.Val488=)
c.641G>A
c.192G>A (p.Val64=)
c.1581G>A (p.Val527=)
c.1554G>A (p.Val518=)
c.1458G>A (p.Val486=)
c.1065G>A (p.Val355=)
c.1527G>A (p.Val509=)
c.1461G>A (p.Val487=)
c.492G>A (p.Val164=)
20g.63414137_63414138delCA1139666777KCNQ2c.1529_1530del (p.Val510AspfsTer?)
c.1583_1584del (p.Val528AspfsTer?)
c.980_981del (p.Val327AspfsTer?)
c.1490_1491del (p.Val497AspfsTer?)
c.1151_1152del (p.Val384AspfsTer?)
c.1499_1500del (p.Val500AspfsTer?)
c.1463_1464del (p.Val488AspfsTer?)
c.640_641del
c.191_192del (p.Val64AspfsTer?)
c.1580_1581del (p.Val527AspfsTer?)
c.1553_1554del (p.Val518AspfsTer?)
c.1457_1458del (p.Val486AspfsTer?)
c.1064_1065del (p.Val355AspfsTer?)
c.1526_1527del (p.Val509AspfsTer?)
c.1460_1461del (p.Val487AspfsTer?)
c.491_492del (p.Val164AspfsTer?)
 ClinVar dbSNP
20g.63414136A>CCA409645406KCNQ2c.1529T>G (p.Val510Gly)
c.1583T>G (p.Val528Gly)
c.980T>G (p.Val327Gly)
c.1490T>G (p.Val497Gly)
c.1151T>G (p.Val384Gly)
c.1499T>G (p.Val500Gly)
c.1463T>G (p.Val488Gly)
c.640T>G
c.191T>G (p.Val64Gly)
c.1580T>G (p.Val527Gly)
c.1553T>G (p.Val518Gly)
c.1457T>G (p.Val486Gly)
c.1064T>G (p.Val355Gly)
c.1526T>G (p.Val509Gly)
c.1460T>G (p.Val487Gly)
c.491T>G (p.Val164Gly)
20g.63414136A>GCA409645414KCNQ2c.1529T>C (p.Val510Ala)
c.1583T>C (p.Val528Ala)
c.980T>C (p.Val327Ala)
c.1490T>C (p.Val497Ala)
c.1151T>C (p.Val384Ala)
c.1499T>C (p.Val500Ala)
c.1463T>C (p.Val488Ala)
c.640T>C
c.191T>C (p.Val64Ala)
c.1580T>C (p.Val527Ala)
c.1553T>C (p.Val518Ala)
c.1457T>C (p.Val486Ala)
c.1064T>C (p.Val355Ala)
c.1526T>C (p.Val509Ala)
c.1460T>C (p.Val487Ala)
c.491T>C (p.Val164Ala)
20g.63414136A>TCA409645411KCNQ2c.1529T>A (p.Val510Glu)
c.1583T>A (p.Val528Glu)
c.980T>A (p.Val327Glu)
c.1490T>A (p.Val497Glu)
c.1151T>A (p.Val384Glu)
c.1499T>A (p.Val500Glu)
c.1463T>A (p.Val488Glu)
c.640T>A
c.191T>A (p.Val64Glu)
c.1580T>A (p.Val527Glu)
c.1553T>A (p.Val518Glu)
c.1457T>A (p.Val486Glu)
c.1064T>A (p.Val355Glu)
c.1526T>A (p.Val509Glu)
c.1460T>A (p.Val487Glu)
c.491T>A (p.Val164Glu)
20g.63414136_63414150delinsACAAACTCGCAGGGGCA2374778309KCNQ2c.1515_1529delinsCCCCTGCGAGTTTGT (p.Cys505=)
c.1569_1583delinsCCCCTGCGAGTTTGT (p.Cys523=)
c.966_980delinsCCCCTGCGAGTTTGT (p.Cys322=)
c.1476_1490delinsCCCCTGCGAGTTTGT (p.Cys492=)
c.1137_1151delinsCCCCTGCGAGTTTGT (p.Cys379=)
c.1485_1499delinsCCCCTGCGAGTTTGT (p.Cys495=)
c.1449_1463delinsCCCCTGCGAGTTTGT (p.Cys483=)
c.626_640delinsCCCCTGCGAGTTTGT
c.177_191delinsCCCCTGCGAGTTTGT (p.Cys59=)
c.1566_1580delinsCCCCTGCGAGTTTGT (p.Cys522=)
c.1539_1553delinsCCCCTGCGAGTTTGT (p.Cys513=)
c.1443_1457delinsCCCCTGCGAGTTTGT (p.Cys481=)
c.1050_1064delinsCCCCTGCGAGTTTGT (p.Cys350=)
c.1512_1526delinsCCCCTGCGAGTTTGT (p.Cys504=)
c.1446_1460delinsCCCCTGCGAGTTTGT (p.Cys482=)
c.477_491delinsCCCCTGCGAGTTTGT (p.Cys159=)
20g.63414137C>ACA409645416KCNQ2c.1528G>T (p.Val510Leu)
c.1582G>T (p.Val528Leu)
c.979G>T (p.Val327Leu)
c.1489G>T (p.Val497Leu)
c.1150G>T (p.Val384Leu)
c.1498G>T (p.Val500Leu)
c.1462G>T (p.Val488Leu)
c.639G>T
c.190G>T (p.Val64Leu)
c.1579G>T (p.Val527Leu)
c.1552G>T (p.Val518Leu)
c.1456G>T (p.Val486Leu)
c.1063G>T (p.Val355Leu)
c.1525G>T (p.Val509Leu)
c.1459G>T (p.Val487Leu)
c.490G>T (p.Val164Leu)
20g.63414137C>GCA409645430KCNQ2c.1528G>C (p.Val510Leu)
c.1582G>C (p.Val528Leu)
c.979G>C (p.Val327Leu)
c.1489G>C (p.Val497Leu)
c.1150G>C (p.Val384Leu)
c.1498G>C (p.Val500Leu)
c.1462G>C (p.Val488Leu)
c.639G>C
c.190G>C (p.Val64Leu)
c.1579G>C (p.Val527Leu)
c.1552G>C (p.Val518Leu)
c.1456G>C (p.Val486Leu)
c.1063G>C (p.Val355Leu)
c.1525G>C (p.Val509Leu)
c.1459G>C (p.Val487Leu)
c.490G>C (p.Val164Leu)
20g.63414137C>TCA409645442KCNQ2c.1528G>A (p.Val510Met)
c.1582G>A (p.Val528Met)
c.979G>A (p.Val327Met)
c.1489G>A (p.Val497Met)
c.1150G>A (p.Val384Met)
c.1498G>A (p.Val500Met)
c.1462G>A (p.Val488Met)
c.639G>A
c.190G>A (p.Val64Met)
c.1579G>A (p.Val527Met)
c.1552G>A (p.Val518Met)
c.1456G>A (p.Val486Met)
c.1063G>A (p.Val355Met)
c.1525G>A (p.Val509Met)
c.1459G>A (p.Val487Met)
c.490G>A (p.Val164Met)
20g.63414137_63414150delinsCAAACTCGCAGGGGCA2374778310KCNQ2c.1515_1528delinsCCCCTGCGAGTTTG (p.Cys505=)
c.1569_1582delinsCCCCTGCGAGTTTG (p.Cys523=)
c.966_979delinsCCCCTGCGAGTTTG (p.Cys322=)
c.1476_1489delinsCCCCTGCGAGTTTG (p.Cys492=)
c.1137_1150delinsCCCCTGCGAGTTTG (p.Cys379=)
c.1485_1498delinsCCCCTGCGAGTTTG (p.Cys495=)
c.1449_1462delinsCCCCTGCGAGTTTG (p.Cys483=)
c.626_639delinsCCCCTGCGAGTTTG
c.177_190delinsCCCCTGCGAGTTTG (p.Cys59=)
c.1566_1579delinsCCCCTGCGAGTTTG (p.Cys522=)
c.1539_1552delinsCCCCTGCGAGTTTG (p.Cys513=)
c.1443_1456delinsCCCCTGCGAGTTTG (p.Cys481=)
c.1050_1063delinsCCCCTGCGAGTTTG (p.Cys350=)
c.1512_1525delinsCCCCTGCGAGTTTG (p.Cys504=)
c.1446_1459delinsCCCCTGCGAGTTTG (p.Cys482=)
c.477_490delinsCCCCTGCGAGTTTG (p.Cys159=)
20g.63414139_63414152delCA342471KCNQ2c.1515_1528del (p.Pro506AspfsTer?)
c.1569_1582del (p.Pro524AspfsTer?)
c.966_979del (p.Pro323AspfsTer?)
c.1476_1489del (p.Pro493AspfsTer?)
c.1137_1150del (p.Pro380AspfsTer?)
c.1485_1498del (p.Pro496AspfsTer?)
c.1449_1462del (p.Pro484AspfsTer?)
c.626_639del
c.177_190del (p.Pro60AspfsTer?)
c.1566_1579del (p.Pro523AspfsTer?)
c.1539_1552del (p.Pro514AspfsTer?)
c.1443_1456del (p.Pro482AspfsTer?)
c.1050_1063del (p.Pro351AspfsTer?)
c.1512_1525del (p.Pro505AspfsTer?)
c.1446_1459del (p.Pro483AspfsTer?)
c.477_490del (p.Pro160AspfsTer?)
 dbSNP
20g.63414138A>CCA409645444KCNQ2c.1527T>G (p.Phe509Leu)
c.1581T>G (p.Phe527Leu)
c.978T>G (p.Phe326Leu)
c.1488T>G (p.Phe496Leu)
c.1149T>G (p.Phe383Leu)
c.1497T>G (p.Phe499Leu)
c.1461T>G (p.Phe487Leu)
c.638T>G
c.189T>G (p.Phe63Leu)
c.1578T>G (p.Phe526Leu)
c.1551T>G (p.Phe517Leu)
c.1455T>G (p.Phe485Leu)
c.1062T>G (p.Phe354Leu)
c.1524T>G (p.Phe508Leu)
c.1458T>G (p.Phe486Leu)
c.489T>G (p.Phe163Leu)
20g.63414138A>GCA511203903KCNQ2c.1527T>C (p.Phe509=)
c.1581T>C (p.Phe527=)
c.978T>C (p.Phe326=)
c.1488T>C (p.Phe496=)
c.1149T>C (p.Phe383=)
c.1497T>C (p.Phe499=)
c.1461T>C (p.Phe487=)
c.638T>C
c.189T>C (p.Phe63=)
c.1578T>C (p.Phe526=)
c.1551T>C (p.Phe517=)
c.1455T>C (p.Phe485=)
c.1062T>C (p.Phe354=)
c.1524T>C (p.Phe508=)
c.1458T>C (p.Phe486=)
c.489T>C (p.Phe163=)
20g.63414138A>TCA409645445KCNQ2c.1527T>A (p.Phe509Leu)
c.1581T>A (p.Phe527Leu)
c.978T>A (p.Phe326Leu)
c.1488T>A (p.Phe496Leu)
c.1149T>A (p.Phe383Leu)
c.1497T>A (p.Phe499Leu)
c.1461T>A (p.Phe487Leu)
c.638T>A
c.189T>A (p.Phe63Leu)
c.1578T>A (p.Phe526Leu)
c.1551T>A (p.Phe517Leu)
c.1455T>A (p.Phe485Leu)
c.1062T>A (p.Phe354Leu)
c.1524T>A (p.Phe508Leu)
c.1458T>A (p.Phe486Leu)
c.489T>A (p.Phe163Leu)
20g.63414138_63414150delCA16043900KCNQ2c.1515_1527del (p.Cys505TrpfsTer2)
c.1569_1581del (p.Cys523TrpfsTer2)
c.966_978del (p.Cys322TrpfsTer2)
c.1476_1488del (p.Cys492TrpfsTer2)
c.1137_1149del (p.Cys379TrpfsTer2)
c.1485_1497del (p.Cys495TrpfsTer2)
c.1449_1461del (p.Cys483TrpfsTer2)
c.626_638del
c.177_189del (p.Cys59TrpfsTer2)
c.1566_1578del (p.Cys522TrpfsTer2)
c.1539_1551del (p.Cys513TrpfsTer2)
c.1443_1455del (p.Cys481TrpfsTer2)
c.1050_1062del (p.Cys350TrpfsTer2)
c.1512_1524del (p.Cys504TrpfsTer2)
c.1446_1458del (p.Cys482TrpfsTer2)
c.477_489del (p.Cys159TrpfsTer2)
 ClinVar dbSNP
20g.63414139A>CCA409645447KCNQ2c.1526T>G (p.Phe509Cys)
c.1580T>G (p.Phe527Cys)
c.977T>G (p.Phe326Cys)
c.1487T>G (p.Phe496Cys)
c.1148T>G (p.Phe383Cys)
c.1496T>G (p.Phe499Cys)
c.1460T>G (p.Phe487Cys)
c.637T>G
c.188T>G (p.Phe63Cys)
c.1577T>G (p.Phe526Cys)
c.1550T>G (p.Phe517Cys)
c.1454T>G (p.Phe485Cys)
c.1061T>G (p.Phe354Cys)
c.1523T>G (p.Phe508Cys)
c.1457T>G (p.Phe486Cys)
c.488T>G (p.Phe163Cys)
20g.63414139A>GCA409645449KCNQ2c.1526T>C (p.Phe509Ser)
c.1580T>C (p.Phe527Ser)
c.977T>C (p.Phe326Ser)
c.1487T>C (p.Phe496Ser)
c.1148T>C (p.Phe383Ser)
c.1496T>C (p.Phe499Ser)
c.1460T>C (p.Phe487Ser)
c.637T>C
c.188T>C (p.Phe63Ser)
c.1577T>C (p.Phe526Ser)
c.1550T>C (p.Phe517Ser)
c.1454T>C (p.Phe485Ser)
c.1061T>C (p.Phe354Ser)
c.1523T>C (p.Phe508Ser)
c.1457T>C (p.Phe486Ser)
c.488T>C (p.Phe163Ser)
 gnomAD v4
20g.63414139A>TCA409645453KCNQ2c.1526T>A (p.Phe509Tyr)
c.1580T>A (p.Phe527Tyr)
c.977T>A (p.Phe326Tyr)
c.1487T>A (p.Phe496Tyr)
c.1148T>A (p.Phe383Tyr)
c.1496T>A (p.Phe499Tyr)
c.1460T>A (p.Phe487Tyr)
c.637T>A
c.188T>A (p.Phe63Tyr)
c.1577T>A (p.Phe526Tyr)
c.1550T>A (p.Phe517Tyr)
c.1454T>A (p.Phe485Tyr)
c.1061T>A (p.Phe354Tyr)
c.1523T>A (p.Phe508Tyr)
c.1457T>A (p.Phe486Tyr)
c.488T>A (p.Phe163Tyr)
20g.63414140_63414152delCA2695230078KCNQ2c.1514_1526del (p.Cys505LeufsTer2)
c.1568_1580del (p.Cys523LeufsTer2)
c.965_977del (p.Cys322LeufsTer2)
c.1475_1487del (p.Cys492LeufsTer2)
c.1136_1148del (p.Cys379LeufsTer2)
c.1484_1496del (p.Cys495LeufsTer2)
c.1448_1460del (p.Cys483LeufsTer2)
c.625_637del
c.176_188del (p.Cys59LeufsTer2)
c.1565_1577del (p.Cys522LeufsTer2)
c.1538_1550del (p.Cys513LeufsTer2)
c.1442_1454del (p.Cys481LeufsTer2)
c.1049_1061del (p.Cys350LeufsTer2)
c.1511_1523del (p.Cys504LeufsTer2)
c.1445_1457del (p.Cys482LeufsTer2)
c.476_488del (p.Cys159LeufsTer2)
20g.63414140A=CA2374778311KCNQ2c.1525T= (p.Phe509=)
c.1579T= (p.Phe527=)
c.976T= (p.Phe326=)
c.1486T= (p.Phe496=)
c.1147T= (p.Phe383=)
c.1495T= (p.Phe499=)
c.1459T= (p.Phe487=)
c.636T=
c.187T= (p.Phe63=)
c.1576T= (p.Phe526=)
c.1549T= (p.Phe517=)
c.1453T= (p.Phe485=)
c.1060T= (p.Phe354=)
c.1522T= (p.Phe508=)
c.1456T= (p.Phe486=)
c.487T= (p.Phe163=)
20g.63414140A>CCA409645458KCNQ2c.1525T>G (p.Phe509Val)
c.1579T>G (p.Phe527Val)
c.976T>G (p.Phe326Val)
c.1486T>G (p.Phe496Val)
c.1147T>G (p.Phe383Val)
c.1495T>G (p.Phe499Val)
c.1459T>G (p.Phe487Val)
c.636T>G
c.187T>G (p.Phe63Val)
c.1576T>G (p.Phe526Val)
c.1549T>G (p.Phe517Val)
c.1453T>G (p.Phe485Val)
c.1060T>G (p.Phe354Val)
c.1522T>G (p.Phe508Val)
c.1456T>G (p.Phe486Val)
c.487T>G (p.Phe163Val)
20g.63414140A>GCA409645464KCNQ2c.1525T>C (p.Phe509Leu)
c.1579T>C (p.Phe527Leu)
c.976T>C (p.Phe326Leu)
c.1486T>C (p.Phe496Leu)
c.1147T>C (p.Phe383Leu)
c.1495T>C (p.Phe499Leu)
c.1459T>C (p.Phe487Leu)
c.636T>C
c.187T>C (p.Phe63Leu)
c.1576T>C (p.Phe526Leu)
c.1549T>C (p.Phe517Leu)
c.1453T>C (p.Phe485Leu)
c.1060T>C (p.Phe354Leu)
c.1522T>C (p.Phe508Leu)
c.1456T>C (p.Phe486Leu)
c.487T>C (p.Phe163Leu)
 COSMIC COSMIC COSMIC
20g.63414140A>TCA9958401KCNQ2c.1525T>A (p.Phe509Ile)
c.1579T>A (p.Phe527Ile)
c.976T>A (p.Phe326Ile)
c.1486T>A (p.Phe496Ile)
c.1147T>A (p.Phe383Ile)
c.1495T>A (p.Phe499Ile)
c.1459T>A (p.Phe487Ile)
c.636T>A
c.187T>A (p.Phe63Ile)
c.1576T>A (p.Phe526Ile)
c.1549T>A (p.Phe517Ile)
c.1453T>A (p.Phe485Ile)
c.1060T>A (p.Phe354Ile)
c.1522T>A (p.Phe508Ile)
c.1456T>A (p.Phe486Ile)
c.487T>A (p.Phe163Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414141C>ACA409645470KCNQ2c.1524G>T (p.Glu508Asp)
c.1578G>T (p.Glu526Asp)
c.975G>T (p.Glu325Asp)
c.1485G>T (p.Glu495Asp)
c.1146G>T (p.Glu382Asp)
c.1494G>T (p.Glu498Asp)
c.1458G>T (p.Glu486Asp)
c.635G>T
c.186G>T (p.Glu62Asp)
c.1575G>T (p.Glu525Asp)
c.1548G>T (p.Glu516Asp)
c.1452G>T (p.Glu484Asp)
c.1059G>T (p.Glu353Asp)
c.1521G>T (p.Glu507Asp)
c.1455G>T (p.Glu485Asp)
c.486G>T (p.Glu162Asp)
20g.63414141C=CA2374778312KCNQ2c.1524G= (p.Glu508=)
c.1578G= (p.Glu526=)
c.975G= (p.Glu325=)
c.1485G= (p.Glu495=)
c.1146G= (p.Glu382=)
c.1494G= (p.Glu498=)
c.1458G= (p.Glu486=)
c.635G=
c.186G= (p.Glu62=)
c.1575G= (p.Glu525=)
c.1548G= (p.Glu516=)
c.1452G= (p.Glu484=)
c.1059G= (p.Glu353=)
c.1521G= (p.Glu507=)
c.1455G= (p.Glu485=)
c.486G= (p.Glu162=)
20g.63414141C>GCA409645471KCNQ2c.1524G>C (p.Glu508Asp)
c.1578G>C (p.Glu526Asp)
c.975G>C (p.Glu325Asp)
c.1485G>C (p.Glu495Asp)
c.1146G>C (p.Glu382Asp)
c.1494G>C (p.Glu498Asp)
c.1458G>C (p.Glu486Asp)
c.635G>C
c.186G>C (p.Glu62Asp)
c.1575G>C (p.Glu525Asp)
c.1548G>C (p.Glu516Asp)
c.1452G>C (p.Glu484Asp)
c.1059G>C (p.Glu353Asp)
c.1521G>C (p.Glu507Asp)
c.1455G>C (p.Glu485Asp)
c.486G>C (p.Glu162Asp)
20g.63414141C>TCA511203905KCNQ2c.1524G>A (p.Glu508=)
c.1578G>A (p.Glu526=)
c.975G>A (p.Glu325=)
c.1485G>A (p.Glu495=)
c.1146G>A (p.Glu382=)
c.1494G>A (p.Glu498=)
c.1458G>A (p.Glu486=)
c.635G>A
c.186G>A (p.Glu62=)
c.1575G>A (p.Glu525=)
c.1548G>A (p.Glu516=)
c.1452G>A (p.Glu484=)
c.1059G>A (p.Glu353=)
c.1521G>A (p.Glu507=)
c.1455G>A (p.Glu485=)
c.486G>A (p.Glu162=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63414142T>ACA409645472KCNQ2c.1523A>T (p.Glu508Val)
c.1577A>T (p.Glu526Val)
c.974A>T (p.Glu325Val)
c.1484A>T (p.Glu495Val)
c.1145A>T (p.Glu382Val)
c.1493A>T (p.Glu498Val)
c.1457A>T (p.Glu486Val)
c.634A>T
c.185A>T (p.Glu62Val)
c.1574A>T (p.Glu525Val)
c.1547A>T (p.Glu516Val)
c.1451A>T (p.Glu484Val)
c.1058A>T (p.Glu353Val)
c.1520A>T (p.Glu507Val)
c.1454A>T (p.Glu485Val)
c.485A>T (p.Glu162Val)
20g.63414142T>CCA409645475KCNQ2c.1523A>G (p.Glu508Gly)
c.1577A>G (p.Glu526Gly)
c.974A>G (p.Glu325Gly)
c.1484A>G (p.Glu495Gly)
c.1145A>G (p.Glu382Gly)
c.1493A>G (p.Glu498Gly)
c.1457A>G (p.Glu486Gly)
c.634A>G
c.185A>G (p.Glu62Gly)
c.1574A>G (p.Glu525Gly)
c.1547A>G (p.Glu516Gly)
c.1451A>G (p.Glu484Gly)
c.1058A>G (p.Glu353Gly)
c.1520A>G (p.Glu507Gly)
c.1454A>G (p.Glu485Gly)
c.485A>G (p.Glu162Gly)
20g.63414142T>GCA409645473KCNQ2c.1523A>C (p.Glu508Ala)
c.1577A>C (p.Glu526Ala)
c.974A>C (p.Glu325Ala)
c.1484A>C (p.Glu495Ala)
c.1145A>C (p.Glu382Ala)
c.1493A>C (p.Glu498Ala)
c.1457A>C (p.Glu486Ala)
c.634A>C
c.185A>C (p.Glu62Ala)
c.1574A>C (p.Glu525Ala)
c.1547A>C (p.Glu516Ala)
c.1451A>C (p.Glu484Ala)
c.1058A>C (p.Glu353Ala)
c.1520A>C (p.Glu507Ala)
c.1454A>C (p.Glu485Ala)
c.485A>C (p.Glu162Ala)
20g.63414143C>ACA409645479KCNQ2c.1522G>T (p.Glu508Ter)
c.1576G>T (p.Glu526Ter)
c.973G>T (p.Glu325Ter)
c.1483G>T (p.Glu495Ter)
c.1144G>T (p.Glu382Ter)
c.1492G>T (p.Glu498Ter)
c.1456G>T (p.Glu486Ter)
c.633G>T
c.184G>T (p.Glu62Ter)
c.1573G>T (p.Glu525Ter)
c.1546G>T (p.Glu516Ter)
c.1450G>T (p.Glu484Ter)
c.1057G>T (p.Glu353Ter)
c.1519G>T (p.Glu507Ter)
c.1453G>T (p.Glu485Ter)
c.484G>T (p.Glu162Ter)
20g.63414143C=CA2374778313KCNQ2c.1522G= (p.Glu508=)
c.1576G= (p.Glu526=)
c.973G= (p.Glu325=)
c.1483G= (p.Glu495=)
c.1144G= (p.Glu382=)
c.1492G= (p.Glu498=)
c.1456G= (p.Glu486=)
c.633G=
c.184G= (p.Glu62=)
c.1573G= (p.Glu525=)
c.1546G= (p.Glu516=)
c.1450G= (p.Glu484=)
c.1057G= (p.Glu353=)
c.1519G= (p.Glu507=)
c.1453G= (p.Glu485=)
c.484G= (p.Glu162=)
20g.63414143C>GCA409645483KCNQ2c.1522G>C (p.Glu508Gln)
c.1576G>C (p.Glu526Gln)
c.973G>C (p.Glu325Gln)
c.1483G>C (p.Glu495Gln)
c.1144G>C (p.Glu382Gln)
c.1492G>C (p.Glu498Gln)
c.1456G>C (p.Glu486Gln)
c.633G>C
c.184G>C (p.Glu62Gln)
c.1573G>C (p.Glu525Gln)
c.1546G>C (p.Glu516Gln)
c.1450G>C (p.Glu484Gln)
c.1057G>C (p.Glu353Gln)
c.1519G>C (p.Glu507Gln)
c.1453G>C (p.Glu485Gln)
c.484G>C (p.Glu162Gln)
 dbSNP gnomAD v3 gnomAD v4
20g.63414143C>TCA9958402KCNQ2c.1522G>A (p.Glu508Lys)
c.1576G>A (p.Glu526Lys)
c.973G>A (p.Glu325Lys)
c.1483G>A (p.Glu495Lys)
c.1144G>A (p.Glu382Lys)
c.1492G>A (p.Glu498Lys)
c.1456G>A (p.Glu486Lys)
c.633G>A
c.184G>A (p.Glu62Lys)
c.1573G>A (p.Glu525Lys)
c.1546G>A (p.Glu516Lys)
c.1450G>A (p.Glu484Lys)
c.1057G>A (p.Glu353Lys)
c.1519G>A (p.Glu507Lys)
c.1453G>A (p.Glu485Lys)
c.484G>A (p.Glu162Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414144G>ACA9958403KCNQ2c.1521C>T (p.Cys507=)
c.1575C>T (p.Cys525=)
c.972C>T (p.Cys324=)
c.1482C>T (p.Cys494=)
c.1143C>T (p.Cys381=)
c.1491C>T (p.Cys497=)
c.1455C>T (p.Cys485=)
c.632C>T
c.183C>T (p.Cys61=)
c.1572C>T (p.Cys524=)
c.1545C>T (p.Cys515=)
c.1449C>T (p.Cys483=)
c.1056C>T (p.Cys352=)
c.1518C>T (p.Cys506=)
c.1452C>T (p.Cys484=)
c.483C>T (p.Cys161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414144G>CCA409645487KCNQ2c.1521C>G (p.Cys507Trp)
c.1575C>G (p.Cys525Trp)
c.972C>G (p.Cys324Trp)
c.1482C>G (p.Cys494Trp)
c.1143C>G (p.Cys381Trp)
c.1491C>G (p.Cys497Trp)
c.1455C>G (p.Cys485Trp)
c.632C>G
c.183C>G (p.Cys61Trp)
c.1572C>G (p.Cys524Trp)
c.1545C>G (p.Cys515Trp)
c.1449C>G (p.Cys483Trp)
c.1056C>G (p.Cys352Trp)
c.1518C>G (p.Cys506Trp)
c.1452C>G (p.Cys484Trp)
c.483C>G (p.Cys161Trp)
 gnomAD v4
20g.63414144G=CA2374778314KCNQ2c.1521C= (p.Cys507=)
c.1575C= (p.Cys525=)
c.972C= (p.Cys324=)
c.1482C= (p.Cys494=)
c.1143C= (p.Cys381=)
c.1491C= (p.Cys497=)
c.1455C= (p.Cys485=)
c.632C=
c.183C= (p.Cys61=)
c.1572C= (p.Cys524=)
c.1545C= (p.Cys515=)
c.1449C= (p.Cys483=)
c.1056C= (p.Cys352=)
c.1518C= (p.Cys506=)
c.1452C= (p.Cys484=)
c.483C= (p.Cys161=)
20g.63414144G>TCA409645493KCNQ2c.1521C>A (p.Cys507Ter)
c.1575C>A (p.Cys525Ter)
c.972C>A (p.Cys324Ter)
c.1482C>A (p.Cys494Ter)
c.1143C>A (p.Cys381Ter)
c.1491C>A (p.Cys497Ter)
c.1455C>A (p.Cys485Ter)
c.632C>A
c.183C>A (p.Cys61Ter)
c.1572C>A (p.Cys524Ter)
c.1545C>A (p.Cys515Ter)
c.1449C>A (p.Cys483Ter)
c.1056C>A (p.Cys352Ter)
c.1518C>A (p.Cys506Ter)
c.1452C>A (p.Cys484Ter)
c.483C>A (p.Cys161Ter)
 gnomAD v4
20g.63414145C>ACA409645495KCNQ2c.1520G>T (p.Cys507Phe)
c.1574G>T (p.Cys525Phe)
c.971G>T (p.Cys324Phe)
c.1481G>T (p.Cys494Phe)
c.1142G>T (p.Cys381Phe)
c.1490G>T (p.Cys497Phe)
c.1454G>T (p.Cys485Phe)
c.631G>T
c.182G>T (p.Cys61Phe)
c.1571G>T (p.Cys524Phe)
c.1544G>T (p.Cys515Phe)
c.1448G>T (p.Cys483Phe)
c.1055G>T (p.Cys352Phe)
c.1517G>T (p.Cys506Phe)
c.1451G>T (p.Cys484Phe)
c.482G>T (p.Cys161Phe)
20g.63414145C>GCA409645496KCNQ2c.1520G>C (p.Cys507Ser)
c.1574G>C (p.Cys525Ser)
c.971G>C (p.Cys324Ser)
c.1481G>C (p.Cys494Ser)
c.1142G>C (p.Cys381Ser)
c.1490G>C (p.Cys497Ser)
c.1454G>C (p.Cys485Ser)
c.631G>C
c.182G>C (p.Cys61Ser)
c.1571G>C (p.Cys524Ser)
c.1544G>C (p.Cys515Ser)
c.1448G>C (p.Cys483Ser)
c.1055G>C (p.Cys352Ser)
c.1517G>C (p.Cys506Ser)
c.1451G>C (p.Cys484Ser)
c.482G>C (p.Cys161Ser)
20g.63414145C>TCA409645500KCNQ2c.1520G>A (p.Cys507Tyr)
c.1574G>A (p.Cys525Tyr)
c.971G>A (p.Cys324Tyr)
c.1481G>A (p.Cys494Tyr)
c.1142G>A (p.Cys381Tyr)
c.1490G>A (p.Cys497Tyr)
c.1454G>A (p.Cys485Tyr)
c.631G>A
c.182G>A (p.Cys61Tyr)
c.1571G>A (p.Cys524Tyr)
c.1544G>A (p.Cys515Tyr)
c.1448G>A (p.Cys483Tyr)
c.1055G>A (p.Cys352Tyr)
c.1517G>A (p.Cys506Tyr)
c.1451G>A (p.Cys484Tyr)
c.482G>A (p.Cys161Tyr)
20g.63414146A=CA2374778315KCNQ2c.1519T= (p.Cys507=)
c.1573T= (p.Cys525=)
c.970T= (p.Cys324=)
c.1480T= (p.Cys494=)
c.1141T= (p.Cys381=)
c.1489T= (p.Cys497=)
c.1453T= (p.Cys485=)
c.630T=
c.181T= (p.Cys61=)
c.1570T= (p.Cys524=)
c.1543T= (p.Cys515=)
c.1447T= (p.Cys483=)
c.1054T= (p.Cys352=)
c.1516T= (p.Cys506=)
c.1450T= (p.Cys484=)
c.481T= (p.Cys161=)
20g.63414146A>CCA409645503KCNQ2c.1519T>G (p.Cys507Gly)
c.1573T>G (p.Cys525Gly)
c.970T>G (p.Cys324Gly)
c.1480T>G (p.Cys494Gly)
c.1141T>G (p.Cys381Gly)
c.1489T>G (p.Cys497Gly)
c.1453T>G (p.Cys485Gly)
c.630T>G
c.181T>G (p.Cys61Gly)
c.1570T>G (p.Cys524Gly)
c.1543T>G (p.Cys515Gly)
c.1447T>G (p.Cys483Gly)
c.1054T>G (p.Cys352Gly)
c.1516T>G (p.Cys506Gly)
c.1450T>G (p.Cys484Gly)
c.481T>G (p.Cys161Gly)
20g.63414146A>GCA409645506KCNQ2c.1519T>C (p.Cys507Arg)
c.1573T>C (p.Cys525Arg)
c.970T>C (p.Cys324Arg)
c.1480T>C (p.Cys494Arg)
c.1141T>C (p.Cys381Arg)
c.1489T>C (p.Cys497Arg)
c.1453T>C (p.Cys485Arg)
c.630T>C
c.181T>C (p.Cys61Arg)
c.1570T>C (p.Cys524Arg)
c.1543T>C (p.Cys515Arg)
c.1447T>C (p.Cys483Arg)
c.1054T>C (p.Cys352Arg)
c.1516T>C (p.Cys506Arg)
c.1450T>C (p.Cys484Arg)
c.481T>C (p.Cys161Arg)
20g.63414146A>TCA315449KCNQ2c.1519T>A (p.Cys507Ser)
c.1573T>A (p.Cys525Ser)
c.970T>A (p.Cys324Ser)
c.1480T>A (p.Cys494Ser)
c.1141T>A (p.Cys381Ser)
c.1489T>A (p.Cys497Ser)
c.1453T>A (p.Cys485Ser)
c.630T>A
c.181T>A (p.Cys61Ser)
c.1570T>A (p.Cys524Ser)
c.1543T>A (p.Cys515Ser)
c.1447T>A (p.Cys483Ser)
c.1054T>A (p.Cys352Ser)
c.1516T>A (p.Cys506Ser)
c.1450T>A (p.Cys484Ser)
c.481T>A (p.Cys161Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414147G>ACA9958404KCNQ2c.1518C>T (p.Pro506=)
c.1572C>T (p.Pro524=)
c.969C>T (p.Pro323=)
c.1479C>T (p.Pro493=)
c.1140C>T (p.Pro380=)
c.1488C>T (p.Pro496=)
c.1452C>T (p.Pro484=)
c.629C>T
c.180C>T (p.Pro60=)
c.1569C>T (p.Pro523=)
c.1542C>T (p.Pro514=)
c.1446C>T (p.Pro482=)
c.1053C>T (p.Pro351=)
c.1515C>T (p.Pro505=)
c.1449C>T (p.Pro483=)
c.480C>T (p.Pro160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414147G>CCA511203912KCNQ2c.1518C>G (p.Pro506=)
c.1572C>G (p.Pro524=)
c.969C>G (p.Pro323=)
c.1479C>G (p.Pro493=)
c.1140C>G (p.Pro380=)
c.1488C>G (p.Pro496=)
c.1452C>G (p.Pro484=)
c.629C>G
c.180C>G (p.Pro60=)
c.1569C>G (p.Pro523=)
c.1542C>G (p.Pro514=)
c.1446C>G (p.Pro482=)
c.1053C>G (p.Pro351=)
c.1515C>G (p.Pro505=)
c.1449C>G (p.Pro483=)
c.480C>G (p.Pro160=)
20g.63414147G=CA2374778316KCNQ2c.1518C= (p.Pro506=)
c.1572C= (p.Pro524=)
c.969C= (p.Pro323=)
c.1479C= (p.Pro493=)
c.1140C= (p.Pro380=)
c.1488C= (p.Pro496=)
c.1452C= (p.Pro484=)
c.629C=
c.180C= (p.Pro60=)
c.1569C= (p.Pro523=)
c.1542C= (p.Pro514=)
c.1446C= (p.Pro482=)
c.1053C= (p.Pro351=)
c.1515C= (p.Pro505=)
c.1449C= (p.Pro483=)
c.480C= (p.Pro160=)
20g.63414147G>TCA511203913KCNQ2c.1518C>A (p.Pro506=)
c.1572C>A (p.Pro524=)
c.969C>A (p.Pro323=)
c.1479C>A (p.Pro493=)
c.1140C>A (p.Pro380=)
c.1488C>A (p.Pro496=)
c.1452C>A (p.Pro484=)
c.629C>A
c.180C>A (p.Pro60=)
c.1569C>A (p.Pro523=)
c.1542C>A (p.Pro514=)
c.1446C>A (p.Pro482=)
c.1053C>A (p.Pro351=)
c.1515C>A (p.Pro505=)
c.1449C>A (p.Pro483=)
c.480C>A (p.Pro160=)
20g.63414148G>ACA409645510KCNQ2c.1517C>T (p.Pro506Leu)
c.1571C>T (p.Pro524Leu)
c.968C>T (p.Pro323Leu)
c.1478C>T (p.Pro493Leu)
c.1139C>T (p.Pro380Leu)
c.1487C>T (p.Pro496Leu)
c.1451C>T (p.Pro484Leu)
c.628C>T
c.179C>T (p.Pro60Leu)
c.1568C>T (p.Pro523Leu)
c.1541C>T (p.Pro514Leu)
c.1445C>T (p.Pro482Leu)
c.1052C>T (p.Pro351Leu)
c.1514C>T (p.Pro505Leu)
c.1448C>T (p.Pro483Leu)
c.479C>T (p.Pro160Leu)
 gnomAD v4
20g.63414148G>CCA409645513KCNQ2c.1517C>G (p.Pro506Arg)
c.1571C>G (p.Pro524Arg)
c.968C>G (p.Pro323Arg)
c.1478C>G (p.Pro493Arg)
c.1139C>G (p.Pro380Arg)
c.1487C>G (p.Pro496Arg)
c.1451C>G (p.Pro484Arg)
c.628C>G
c.179C>G (p.Pro60Arg)
c.1568C>G (p.Pro523Arg)
c.1541C>G (p.Pro514Arg)
c.1445C>G (p.Pro482Arg)
c.1052C>G (p.Pro351Arg)
c.1514C>G (p.Pro505Arg)
c.1448C>G (p.Pro483Arg)
c.479C>G (p.Pro160Arg)
20g.63414148G>TCA409645516KCNQ2c.1517C>A (p.Pro506His)
c.1571C>A (p.Pro524His)
c.968C>A (p.Pro323His)
c.1478C>A (p.Pro493His)
c.1139C>A (p.Pro380His)
c.1487C>A (p.Pro496His)
c.1451C>A (p.Pro484His)
c.628C>A
c.179C>A (p.Pro60His)
c.1568C>A (p.Pro523His)
c.1541C>A (p.Pro514His)
c.1445C>A (p.Pro482His)
c.1052C>A (p.Pro351His)
c.1514C>A (p.Pro505His)
c.1448C>A (p.Pro483His)
c.479C>A (p.Pro160His)
 dbSNP
20g.63414149G>ACA409645520KCNQ2c.1516C>T (p.Pro506Ser)
c.1570C>T (p.Pro524Ser)
c.967C>T (p.Pro323Ser)
c.1477C>T (p.Pro493Ser)
c.1138C>T (p.Pro380Ser)
c.1486C>T (p.Pro496Ser)
c.1450C>T (p.Pro484Ser)
c.627C>T
c.178C>T (p.Pro60Ser)
c.1567C>T (p.Pro523Ser)
c.1540C>T (p.Pro514Ser)
c.1444C>T (p.Pro482Ser)
c.1051C>T (p.Pro351Ser)
c.1513C>T (p.Pro505Ser)
c.1447C>T (p.Pro483Ser)
c.478C>T (p.Pro160Ser)
20g.63414149G>CCA409645523KCNQ2c.1516C>G (p.Pro506Ala)
c.1570C>G (p.Pro524Ala)
c.967C>G (p.Pro323Ala)
c.1477C>G (p.Pro493Ala)
c.1138C>G (p.Pro380Ala)
c.1486C>G (p.Pro496Ala)
c.1450C>G (p.Pro484Ala)
c.627C>G
c.178C>G (p.Pro60Ala)
c.1567C>G (p.Pro523Ala)
c.1540C>G (p.Pro514Ala)
c.1444C>G (p.Pro482Ala)
c.1051C>G (p.Pro351Ala)
c.1513C>G (p.Pro505Ala)
c.1447C>G (p.Pro483Ala)
c.478C>G (p.Pro160Ala)
20g.63414149G>TCA409645525KCNQ2c.1516C>A (p.Pro506Thr)
c.1570C>A (p.Pro524Thr)
c.967C>A (p.Pro323Thr)
c.1477C>A (p.Pro493Thr)
c.1138C>A (p.Pro380Thr)
c.1486C>A (p.Pro496Thr)
c.1450C>A (p.Pro484Thr)
c.627C>A
c.178C>A (p.Pro60Thr)
c.1567C>A (p.Pro523Thr)
c.1540C>A (p.Pro514Thr)
c.1444C>A (p.Pro482Thr)
c.1051C>A (p.Pro351Thr)
c.1513C>A (p.Pro505Thr)
c.1447C>A (p.Pro483Thr)
c.478C>A (p.Pro160Thr)
20g.63414150G>ACA511203915KCNQ2c.1515C>T (p.Cys505=)
c.1569C>T (p.Cys523=)
c.966C>T (p.Cys322=)
c.1476C>T (p.Cys492=)
c.1137C>T (p.Cys379=)
c.1485C>T (p.Cys495=)
c.1449C>T (p.Cys483=)
c.626C>T
c.177C>T (p.Cys59=)
c.1566C>T (p.Cys522=)
c.1539C>T (p.Cys513=)
c.1443C>T (p.Cys481=)
c.1050C>T (p.Cys350=)
c.1512C>T (p.Cys504=)
c.1446C>T (p.Cys482=)
c.477C>T (p.Cys159=)
 dbSNP
20g.63414150G>CCA409645528KCNQ2c.1515C>G (p.Cys505Trp)
c.1569C>G (p.Cys523Trp)
c.966C>G (p.Cys322Trp)
c.1476C>G (p.Cys492Trp)
c.1137C>G (p.Cys379Trp)
c.1485C>G (p.Cys495Trp)
c.1449C>G (p.Cys483Trp)
c.626C>G
c.177C>G (p.Cys59Trp)
c.1566C>G (p.Cys522Trp)
c.1539C>G (p.Cys513Trp)
c.1443C>G (p.Cys481Trp)
c.1050C>G (p.Cys350Trp)
c.1512C>G (p.Cys504Trp)
c.1446C>G (p.Cys482Trp)
c.477C>G (p.Cys159Trp)
 gnomAD v4
20g.63414150G>TCA409645530KCNQ2c.1515C>A (p.Cys505Ter)
c.1569C>A (p.Cys523Ter)
c.966C>A (p.Cys322Ter)
c.1476C>A (p.Cys492Ter)
c.1137C>A (p.Cys379Ter)
c.1485C>A (p.Cys495Ter)
c.1449C>A (p.Cys483Ter)
c.626C>A
c.177C>A (p.Cys59Ter)
c.1566C>A (p.Cys522Ter)
c.1539C>A (p.Cys513Ter)
c.1443C>A (p.Cys481Ter)
c.1050C>A (p.Cys350Ter)
c.1512C>A (p.Cys504Ter)
c.1446C>A (p.Cys482Ter)
c.477C>A (p.Cys159Ter)
20g.63414151C>ACA409645533KCNQ2c.1514G>T (p.Cys505Phe)
c.1568G>T (p.Cys523Phe)
c.965G>T (p.Cys322Phe)
c.1475G>T (p.Cys492Phe)
c.1136G>T (p.Cys379Phe)
c.1484G>T (p.Cys495Phe)
c.1448G>T (p.Cys483Phe)
c.625G>T
c.176G>T (p.Cys59Phe)
c.1565G>T (p.Cys522Phe)
c.1538G>T (p.Cys513Phe)
c.1442G>T (p.Cys481Phe)
c.1049G>T (p.Cys350Phe)
c.1511G>T (p.Cys504Phe)
c.1445G>T (p.Cys482Phe)
c.476G>T (p.Cys159Phe)
20g.63414151C>GCA409645536KCNQ2c.1514G>C (p.Cys505Ser)
c.1568G>C (p.Cys523Ser)
c.965G>C (p.Cys322Ser)
c.1475G>C (p.Cys492Ser)
c.1136G>C (p.Cys379Ser)
c.1484G>C (p.Cys495Ser)
c.1448G>C (p.Cys483Ser)
c.625G>C
c.176G>C (p.Cys59Ser)
c.1565G>C (p.Cys522Ser)
c.1538G>C (p.Cys513Ser)
c.1442G>C (p.Cys481Ser)
c.1049G>C (p.Cys350Ser)
c.1511G>C (p.Cys504Ser)
c.1445G>C (p.Cys482Ser)
c.476G>C (p.Cys159Ser)
20g.63414151C>TCA409645542KCNQ2c.1514G>A (p.Cys505Tyr)
c.1568G>A (p.Cys523Tyr)
c.965G>A (p.Cys322Tyr)
c.1475G>A (p.Cys492Tyr)
c.1136G>A (p.Cys379Tyr)
c.1484G>A (p.Cys495Tyr)
c.1448G>A (p.Cys483Tyr)
c.625G>A
c.176G>A (p.Cys59Tyr)
c.1565G>A (p.Cys522Tyr)
c.1538G>A (p.Cys513Tyr)
c.1442G>A (p.Cys481Tyr)
c.1049G>A (p.Cys350Tyr)
c.1511G>A (p.Cys504Tyr)
c.1445G>A (p.Cys482Tyr)
c.476G>A (p.Cys159Tyr)
 dbSNP gnomAD v3 gnomAD v4
20g.63414152A>CCA409645546KCNQ2c.1513T>G (p.Cys505Gly)
c.1567T>G (p.Cys523Gly)
c.964T>G (p.Cys322Gly)
c.1474T>G (p.Cys492Gly)
c.1135T>G (p.Cys379Gly)
c.1483T>G (p.Cys495Gly)
c.1447T>G (p.Cys483Gly)
c.624T>G
c.175T>G (p.Cys59Gly)
c.1564T>G (p.Cys522Gly)
c.1537T>G (p.Cys513Gly)
c.1441T>G (p.Cys481Gly)
c.1048T>G (p.Cys350Gly)
c.1510T>G (p.Cys504Gly)
c.1444T>G (p.Cys482Gly)
c.475T>G (p.Cys159Gly)
20g.63414152A>GCA409645549KCNQ2c.1513T>C (p.Cys505Arg)
c.1567T>C (p.Cys523Arg)
c.964T>C (p.Cys322Arg)
c.1474T>C (p.Cys492Arg)
c.1135T>C (p.Cys379Arg)
c.1483T>C (p.Cys495Arg)
c.1447T>C (p.Cys483Arg)
c.624T>C
c.175T>C (p.Cys59Arg)
c.1564T>C (p.Cys522Arg)
c.1537T>C (p.Cys513Arg)
c.1441T>C (p.Cys481Arg)
c.1048T>C (p.Cys350Arg)
c.1510T>C (p.Cys504Arg)
c.1444T>C (p.Cys482Arg)
c.475T>C (p.Cys159Arg)
 gnomAD v4
20g.63414152A>TCA409645544KCNQ2c.1513T>A (p.Cys505Ser)
c.1567T>A (p.Cys523Ser)
c.964T>A (p.Cys322Ser)
c.1474T>A (p.Cys492Ser)
c.1135T>A (p.Cys379Ser)
c.1483T>A (p.Cys495Ser)
c.1447T>A (p.Cys483Ser)
c.624T>A
c.175T>A (p.Cys59Ser)
c.1564T>A (p.Cys522Ser)
c.1537T>A (p.Cys513Ser)
c.1441T>A (p.Cys481Ser)
c.1048T>A (p.Cys350Ser)
c.1510T>A (p.Cys504Ser)
c.1444T>A (p.Cys482Ser)
c.475T>A (p.Cys159Ser)
20g.63414153G>ACA511203919KCNQ2c.1512C>T (p.Ser504=)
c.1566C>T (p.Ser522=)
c.963C>T (p.Ser321=)
c.1473C>T (p.Ser491=)
c.1134C>T (p.Ser378=)
c.1482C>T (p.Ser494=)
c.1446C>T (p.Ser482=)
c.623C>T
c.174C>T (p.Ser58=)
c.1563C>T (p.Ser521=)
c.1536C>T (p.Ser512=)
c.1440C>T (p.Ser480=)
c.1047C>T (p.Ser349=)
c.1509C>T (p.Ser503=)
c.1443C>T (p.Ser481=)
c.474C>T (p.Ser158=)
 gnomAD v4
20g.63414153G>CCA409645551KCNQ2c.1512C>G (p.Ser504Arg)
c.1566C>G (p.Ser522Arg)
c.963C>G (p.Ser321Arg)
c.1473C>G (p.Ser491Arg)
c.1134C>G (p.Ser378Arg)
c.1482C>G (p.Ser494Arg)
c.1446C>G (p.Ser482Arg)
c.623C>G
c.174C>G (p.Ser58Arg)
c.1563C>G (p.Ser521Arg)
c.1536C>G (p.Ser512Arg)
c.1440C>G (p.Ser480Arg)
c.1047C>G (p.Ser349Arg)
c.1509C>G (p.Ser503Arg)
c.1443C>G (p.Ser481Arg)
c.474C>G (p.Ser158Arg)
 ClinVar dbSNP gnomAD v4
20g.63414153G>TCA409645555KCNQ2c.1512C>A (p.Ser504Arg)
c.1566C>A (p.Ser522Arg)
c.963C>A (p.Ser321Arg)
c.1473C>A (p.Ser491Arg)
c.1134C>A (p.Ser378Arg)
c.1482C>A (p.Ser494Arg)
c.1446C>A (p.Ser482Arg)
c.623C>A
c.174C>A (p.Ser58Arg)
c.1563C>A (p.Ser521Arg)
c.1536C>A (p.Ser512Arg)
c.1440C>A (p.Ser480Arg)
c.1047C>A (p.Ser349Arg)
c.1509C>A (p.Ser503Arg)
c.1443C>A (p.Ser481Arg)
c.474C>A (p.Ser158Arg)
20g.63414154C>ACA409645563KCNQ2c.1511G>T (p.Ser504Ile)
c.1565G>T (p.Ser522Ile)
c.962G>T (p.Ser321Ile)
c.1472G>T (p.Ser491Ile)
c.1133G>T (p.Ser378Ile)
c.1481G>T (p.Ser494Ile)
c.1445G>T (p.Ser482Ile)
c.622G>T
c.173G>T (p.Ser58Ile)
c.1562G>T (p.Ser521Ile)
c.1535G>T (p.Ser512Ile)
c.1439G>T (p.Ser480Ile)
c.1046G>T (p.Ser349Ile)
c.1508G>T (p.Ser503Ile)
c.1442G>T (p.Ser481Ile)
c.473G>T (p.Ser158Ile)
20g.63414154C=CA2374778317KCNQ2c.1511G= (p.Ser504=)
c.1565G= (p.Ser522=)
c.962G= (p.Ser321=)
c.1472G= (p.Ser491=)
c.1133G= (p.Ser378=)
c.1481G= (p.Ser494=)
c.1445G= (p.Ser482=)
c.622G=
c.173G= (p.Ser58=)
c.1562G= (p.Ser521=)
c.1535G= (p.Ser512=)
c.1439G= (p.Ser480=)
c.1046G= (p.Ser349=)
c.1508G= (p.Ser503=)
c.1442G= (p.Ser481=)
c.473G= (p.Ser158=)
20g.63414154C>GCA409645566KCNQ2c.1511G>C (p.Ser504Thr)
c.1565G>C (p.Ser522Thr)
c.962G>C (p.Ser321Thr)
c.1472G>C (p.Ser491Thr)
c.1133G>C (p.Ser378Thr)
c.1481G>C (p.Ser494Thr)
c.1445G>C (p.Ser482Thr)
c.622G>C
c.173G>C (p.Ser58Thr)
c.1562G>C (p.Ser521Thr)
c.1535G>C (p.Ser512Thr)
c.1439G>C (p.Ser480Thr)
c.1046G>C (p.Ser349Thr)
c.1508G>C (p.Ser503Thr)
c.1442G>C (p.Ser481Thr)
c.473G>C (p.Ser158Thr)
20g.63414154C>TCA409645569KCNQ2c.1511G>A (p.Ser504Asn)
c.1565G>A (p.Ser522Asn)
c.962G>A (p.Ser321Asn)
c.1472G>A (p.Ser491Asn)
c.1133G>A (p.Ser378Asn)
c.1481G>A (p.Ser494Asn)
c.1445G>A (p.Ser482Asn)
c.622G>A
c.173G>A (p.Ser58Asn)
c.1562G>A (p.Ser521Asn)
c.1535G>A (p.Ser512Asn)
c.1439G>A (p.Ser480Asn)
c.1046G>A (p.Ser349Asn)
c.1508G>A (p.Ser503Asn)
c.1442G>A (p.Ser481Asn)
c.473G>A (p.Ser158Asn)
 dbSNP gnomAD v3 gnomAD v4
20g.63414155T>ACA409645579KCNQ2c.1510A>T (p.Ser504Cys)
c.1564A>T (p.Ser522Cys)
c.961A>T (p.Ser321Cys)
c.1471A>T (p.Ser491Cys)
c.1132A>T (p.Ser378Cys)
c.1480A>T (p.Ser494Cys)
c.1444A>T (p.Ser482Cys)
c.621A>T
c.172A>T (p.Ser58Cys)
c.1561A>T (p.Ser521Cys)
c.1534A>T (p.Ser512Cys)
c.1438A>T (p.Ser480Cys)
c.1045A>T (p.Ser349Cys)
c.1507A>T (p.Ser503Cys)
c.1441A>T (p.Ser481Cys)
c.472A>T (p.Ser158Cys)
20g.63414155T>CCA409645573KCNQ2c.1510A>G (p.Ser504Gly)
c.1564A>G (p.Ser522Gly)
c.961A>G (p.Ser321Gly)
c.1471A>G (p.Ser491Gly)
c.1132A>G (p.Ser378Gly)
c.1480A>G (p.Ser494Gly)
c.1444A>G (p.Ser482Gly)
c.621A>G
c.172A>G (p.Ser58Gly)
c.1561A>G (p.Ser521Gly)
c.1534A>G (p.Ser512Gly)
c.1438A>G (p.Ser480Gly)
c.1045A>G (p.Ser349Gly)
c.1507A>G (p.Ser503Gly)
c.1441A>G (p.Ser481Gly)
c.472A>G (p.Ser158Gly)
20g.63414155T>GCA409645576KCNQ2c.1510A>C (p.Ser504Arg)
c.1564A>C (p.Ser522Arg)
c.961A>C (p.Ser321Arg)
c.1471A>C (p.Ser491Arg)
c.1132A>C (p.Ser378Arg)
c.1480A>C (p.Ser494Arg)
c.1444A>C (p.Ser482Arg)
c.621A>C
c.172A>C (p.Ser58Arg)
c.1561A>C (p.Ser521Arg)
c.1534A>C (p.Ser512Arg)
c.1438A>C (p.Ser480Arg)
c.1045A>C (p.Ser349Arg)
c.1507A>C (p.Ser503Arg)
c.1441A>C (p.Ser481Arg)
c.472A>C (p.Ser158Arg)
20g.63414156C>ACA409645583KCNQ2c.1509G>T (p.Lys503Asn)
c.1563G>T (p.Lys521Asn)
c.960G>T (p.Lys320Asn)
c.1470G>T (p.Lys490Asn)
c.1131G>T (p.Lys377Asn)
c.1479G>T (p.Lys493Asn)
c.1443G>T (p.Lys481Asn)
c.620G>T
c.171G>T (p.Lys57Asn)
c.1560G>T (p.Lys520Asn)
c.1533G>T (p.Lys511Asn)
c.1437G>T (p.Lys479Asn)
c.1044G>T (p.Lys348Asn)
c.1506G>T (p.Lys502Asn)
c.1440G>T (p.Lys480Asn)
c.471G>T (p.Lys157Asn)
20g.63414156C=CA2374778318KCNQ2c.1509G= (p.Lys503=)
c.1563G= (p.Lys521=)
c.960G= (p.Lys320=)
c.1470G= (p.Lys490=)
c.1131G= (p.Lys377=)
c.1479G= (p.Lys493=)
c.1443G= (p.Lys481=)
c.620G=
c.171G= (p.Lys57=)
c.1560G= (p.Lys520=)
c.1533G= (p.Lys511=)
c.1437G= (p.Lys479=)
c.1044G= (p.Lys348=)
c.1506G= (p.Lys502=)
c.1440G= (p.Lys480=)
c.471G= (p.Lys157=)
20g.63414156C>GCA409645586KCNQ2c.1509G>C (p.Lys503Asn)
c.1563G>C (p.Lys521Asn)
c.960G>C (p.Lys320Asn)
c.1470G>C (p.Lys490Asn)
c.1131G>C (p.Lys377Asn)
c.1479G>C (p.Lys493Asn)
c.1443G>C (p.Lys481Asn)
c.620G>C
c.171G>C (p.Lys57Asn)
c.1560G>C (p.Lys520Asn)
c.1533G>C (p.Lys511Asn)
c.1437G>C (p.Lys479Asn)
c.1044G>C (p.Lys348Asn)
c.1506G>C (p.Lys502Asn)
c.1440G>C (p.Lys480Asn)
c.471G>C (p.Lys157Asn)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414156C>TCA511203922KCNQ2c.1509G>A (p.Lys503=)
c.1563G>A (p.Lys521=)
c.960G>A (p.Lys320=)
c.1470G>A (p.Lys490=)
c.1131G>A (p.Lys377=)
c.1479G>A (p.Lys493=)
c.1443G>A (p.Lys481=)
c.620G>A
c.171G>A (p.Lys57=)
c.1560G>A (p.Lys520=)
c.1533G>A (p.Lys511=)
c.1437G>A (p.Lys479=)
c.1044G>A (p.Lys348=)
c.1506G>A (p.Lys502=)
c.1440G>A (p.Lys480=)
c.471G>A (p.Lys157=)
20g.63414157T>ACA409645590KCNQ2c.1508A>T (p.Lys503Met)
c.1562A>T (p.Lys521Met)
c.959A>T (p.Lys320Met)
c.1469A>T (p.Lys490Met)
c.1130A>T (p.Lys377Met)
c.1478A>T (p.Lys493Met)
c.1442A>T (p.Lys481Met)
c.619A>T
c.170A>T (p.Lys57Met)
c.1559A>T (p.Lys520Met)
c.1532A>T (p.Lys511Met)
c.1436A>T (p.Lys479Met)
c.1043A>T (p.Lys348Met)
c.1505A>T (p.Lys502Met)
c.1439A>T (p.Lys480Met)
c.470A>T (p.Lys157Met)
20g.63414157T>CCA409645593KCNQ2c.1508A>G (p.Lys503Arg)
c.1562A>G (p.Lys521Arg)
c.959A>G (p.Lys320Arg)
c.1469A>G (p.Lys490Arg)
c.1130A>G (p.Lys377Arg)
c.1478A>G (p.Lys493Arg)
c.1442A>G (p.Lys481Arg)
c.619A>G
c.170A>G (p.Lys57Arg)
c.1559A>G (p.Lys520Arg)
c.1532A>G (p.Lys511Arg)
c.1436A>G (p.Lys479Arg)
c.1043A>G (p.Lys348Arg)
c.1505A>G (p.Lys502Arg)
c.1439A>G (p.Lys480Arg)
c.470A>G (p.Lys157Arg)
20g.63414157T>GCA409645595KCNQ2c.1508A>C (p.Lys503Thr)
c.1562A>C (p.Lys521Thr)
c.959A>C (p.Lys320Thr)
c.1469A>C (p.Lys490Thr)
c.1130A>C (p.Lys377Thr)
c.1478A>C (p.Lys493Thr)
c.1442A>C (p.Lys481Thr)
c.619A>C
c.170A>C (p.Lys57Thr)
c.1559A>C (p.Lys520Thr)
c.1532A>C (p.Lys511Thr)
c.1436A>C (p.Lys479Thr)
c.1043A>C (p.Lys348Thr)
c.1505A>C (p.Lys502Thr)
c.1439A>C (p.Lys480Thr)
c.470A>C (p.Lys157Thr)
 gnomAD v4
20g.63414158_63414160dupCA2374778319KCNQ2c.1506_1508dup (p.Asp502_Lys503insAsn)
c.1560_1562dup (p.Asp520_Lys521insAsn)
c.957_959dup (p.Asp319_Lys320insAsn)
c.1467_1469dup (p.Asp489_Lys490insAsn)
c.1128_1130dup (p.Asp376_Lys377insAsn)
c.1476_1478dup (p.Asp492_Lys493insAsn)
c.1440_1442dup (p.Asp480_Lys481insAsn)
c.617_619dup
c.168_170dup (p.Asp56_Lys57insAsn)
c.1557_1559dup (p.Asp519_Lys520insAsn)
c.1530_1532dup (p.Asp510_Lys511insAsn)
c.1434_1436dup (p.Asp478_Lys479insAsn)
c.1041_1043dup (p.Asp347_Lys348insAsn)
c.1503_1505dup (p.Asp501_Lys502insAsn)
c.1437_1439dup (p.Asp479_Lys480insAsn)
c.468_470dup (p.Asp156_Lys157insAsn)
 dbSNP
20g.63414158T>ACA409645605KCNQ2c.1507A>T (p.Lys503Ter)
c.1561A>T (p.Lys521Ter)
c.958A>T (p.Lys320Ter)
c.1468A>T (p.Lys490Ter)
c.1129A>T (p.Lys377Ter)
c.1477A>T (p.Lys493Ter)
c.1441A>T (p.Lys481Ter)
c.618A>T
c.169A>T (p.Lys57Ter)
c.1558A>T (p.Lys520Ter)
c.1531A>T (p.Lys511Ter)
c.1435A>T (p.Lys479Ter)
c.1042A>T (p.Lys348Ter)
c.1504A>T (p.Lys502Ter)
c.1438A>T (p.Lys480Ter)
c.469A>T (p.Lys157Ter)
20g.63414158T>CCA409645602KCNQ2c.1507A>G (p.Lys503Glu)
c.1561A>G (p.Lys521Glu)
c.958A>G (p.Lys320Glu)
c.1468A>G (p.Lys490Glu)
c.1129A>G (p.Lys377Glu)
c.1477A>G (p.Lys493Glu)
c.1441A>G (p.Lys481Glu)
c.618A>G
c.169A>G (p.Lys57Glu)
c.1558A>G (p.Lys520Glu)
c.1531A>G (p.Lys511Glu)
c.1435A>G (p.Lys479Glu)
c.1042A>G (p.Lys348Glu)
c.1504A>G (p.Lys502Glu)
c.1438A>G (p.Lys480Glu)
c.469A>G (p.Lys157Glu)
 gnomAD v4
20g.63414158T>GCA409645599KCNQ2c.1507A>C (p.Lys503Gln)
c.1561A>C (p.Lys521Gln)
c.958A>C (p.Lys320Gln)
c.1468A>C (p.Lys490Gln)
c.1129A>C (p.Lys377Gln)
c.1477A>C (p.Lys493Gln)
c.1441A>C (p.Lys481Gln)
c.618A>C
c.169A>C (p.Lys57Gln)
c.1558A>C (p.Lys520Gln)
c.1531A>C (p.Lys511Gln)
c.1435A>C (p.Lys479Gln)
c.1042A>C (p.Lys348Gln)
c.1504A>C (p.Lys502Gln)
c.1438A>C (p.Lys480Gln)
c.469A>C (p.Lys157Gln)
20g.63414158_63414161dupCA2573157181KCNQ2c.1504_1507dup (p.Lys503ArgfsTer?)
c.1558_1561dup (p.Lys521ArgfsTer?)
c.955_958dup (p.Lys320ArgfsTer?)
c.1465_1468dup (p.Lys490ArgfsTer?)
c.1126_1129dup (p.Lys377ArgfsTer?)
c.1474_1477dup (p.Lys493ArgfsTer?)
c.1438_1441dup (p.Lys481ArgfsTer?)
c.615_618dup
c.166_169dup (p.Lys57ArgfsTer?)
c.1555_1558dup (p.Lys520ArgfsTer?)
c.1528_1531dup (p.Lys511ArgfsTer?)
c.1432_1435dup (p.Lys479ArgfsTer?)
c.1039_1042dup (p.Lys348ArgfsTer?)
c.1501_1504dup (p.Lys502ArgfsTer?)
c.1435_1438dup (p.Lys480ArgfsTer?)
c.466_469dup (p.Lys157ArgfsTer?)
 ClinVar dbSNP
20g.63414159G>ACA511203923KCNQ2c.1506C>T (p.Asp502=)
c.1560C>T (p.Asp520=)
c.957C>T (p.Asp319=)
c.1467C>T (p.Asp489=)
c.1128C>T (p.Asp376=)
c.1476C>T (p.Asp492=)
c.1440C>T (p.Asp480=)
c.617C>T
c.168C>T (p.Asp56=)
c.1557C>T (p.Asp519=)
c.1530C>T (p.Asp510=)
c.1434C>T (p.Asp478=)
c.1041C>T (p.Asp347=)
c.1503C>T (p.Asp501=)
c.1437C>T (p.Asp479=)
c.468C>T (p.Asp156=)
 dbSNP gnomAD v2 gnomAD v4
20g.63414159G>CCA409645608KCNQ2c.1506C>G (p.Asp502Glu)
c.1560C>G (p.Asp520Glu)
c.957C>G (p.Asp319Glu)
c.1467C>G (p.Asp489Glu)
c.1128C>G (p.Asp376Glu)
c.1476C>G (p.Asp492Glu)
c.1440C>G (p.Asp480Glu)
c.617C>G
c.168C>G (p.Asp56Glu)
c.1557C>G (p.Asp519Glu)
c.1530C>G (p.Asp510Glu)
c.1434C>G (p.Asp478Glu)
c.1041C>G (p.Asp347Glu)
c.1503C>G (p.Asp501Glu)
c.1437C>G (p.Asp479Glu)
c.468C>G (p.Asp156Glu)
20g.63414159G=CA2374778320KCNQ2c.1506C= (p.Asp502=)
c.1560C= (p.Asp520=)
c.957C= (p.Asp319=)
c.1467C= (p.Asp489=)
c.1128C= (p.Asp376=)
c.1476C= (p.Asp492=)
c.1440C= (p.Asp480=)
c.617C=
c.168C= (p.Asp56=)
c.1557C= (p.Asp519=)
c.1530C= (p.Asp510=)
c.1434C= (p.Asp478=)
c.1041C= (p.Asp347=)
c.1503C= (p.Asp501=)
c.1437C= (p.Asp479=)
c.468C= (p.Asp156=)
20g.63414159G>TCA409645609KCNQ2c.1506C>A (p.Asp502Glu)
c.1560C>A (p.Asp520Glu)
c.957C>A (p.Asp319Glu)
c.1467C>A (p.Asp489Glu)
c.1128C>A (p.Asp376Glu)
c.1476C>A (p.Asp492Glu)
c.1440C>A (p.Asp480Glu)
c.617C>A
c.168C>A (p.Asp56Glu)
c.1557C>A (p.Asp519Glu)
c.1530C>A (p.Asp510Glu)
c.1434C>A (p.Asp478Glu)
c.1041C>A (p.Asp347Glu)
c.1503C>A (p.Asp501Glu)
c.1437C>A (p.Asp479Glu)
c.468C>A (p.Asp156Glu)
20g.63414160T>ACA409645614KCNQ2c.1505A>T (p.Asp502Val)
c.1559A>T (p.Asp520Val)
c.956A>T (p.Asp319Val)
c.1466A>T (p.Asp489Val)
c.1127A>T (p.Asp376Val)
c.1475A>T (p.Asp492Val)
c.1439A>T (p.Asp480Val)
c.616A>T
c.167A>T (p.Asp56Val)
c.1556A>T (p.Asp519Val)
c.1529A>T (p.Asp510Val)
c.1433A>T (p.Asp478Val)
c.1040A>T (p.Asp347Val)
c.1502A>T (p.Asp501Val)
c.1436A>T (p.Asp479Val)
c.467A>T (p.Asp156Val)
20g.63414160T>CCA9958405KCNQ2c.1505A>G (p.Asp502Gly)
c.1559A>G (p.Asp520Gly)
c.956A>G (p.Asp319Gly)
c.1466A>G (p.Asp489Gly)
c.1127A>G (p.Asp376Gly)
c.1475A>G (p.Asp492Gly)
c.1439A>G (p.Asp480Gly)
c.616A>G
c.167A>G (p.Asp56Gly)
c.1556A>G (p.Asp519Gly)
c.1529A>G (p.Asp510Gly)
c.1433A>G (p.Asp478Gly)
c.1040A>G (p.Asp347Gly)
c.1502A>G (p.Asp501Gly)
c.1436A>G (p.Asp479Gly)
c.467A>G (p.Asp156Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414160T>GCA409645620KCNQ2c.1505A>C (p.Asp502Ala)
c.1559A>C (p.Asp520Ala)
c.956A>C (p.Asp319Ala)
c.1466A>C (p.Asp489Ala)
c.1127A>C (p.Asp376Ala)
c.1475A>C (p.Asp492Ala)
c.1439A>C (p.Asp480Ala)
c.616A>C
c.167A>C (p.Asp56Ala)
c.1556A>C (p.Asp519Ala)
c.1529A>C (p.Asp510Ala)
c.1433A>C (p.Asp478Ala)
c.1040A>C (p.Asp347Ala)
c.1502A>C (p.Asp501Ala)
c.1436A>C (p.Asp479Ala)
c.467A>C (p.Asp156Ala)
20g.63414160T=CA2374778321KCNQ2c.1505A= (p.Asp502=)
c.1559A= (p.Asp520=)
c.956A= (p.Asp319=)
c.1466A= (p.Asp489=)
c.1127A= (p.Asp376=)
c.1475A= (p.Asp492=)
c.1439A= (p.Asp480=)
c.616A=
c.167A= (p.Asp56=)
c.1556A= (p.Asp519=)
c.1529A= (p.Asp510=)
c.1433A= (p.Asp478=)
c.1040A= (p.Asp347=)
c.1502A= (p.Asp501=)
c.1436A= (p.Asp479=)
c.467A= (p.Asp156=)
20g.63414161C>ACA409645624KCNQ2c.1504G>T (p.Asp502Tyr)
c.1558G>T (p.Asp520Tyr)
c.955G>T (p.Asp319Tyr)
c.1465G>T (p.Asp489Tyr)
c.1126G>T (p.Asp376Tyr)
c.1474G>T (p.Asp492Tyr)
c.1438G>T (p.Asp480Tyr)
c.615G>T
c.166G>T (p.Asp56Tyr)
c.1555G>T (p.Asp519Tyr)
c.1528G>T (p.Asp510Tyr)
c.1432G>T (p.Asp478Tyr)
c.1039G>T (p.Asp347Tyr)
c.1501G>T (p.Asp501Tyr)
c.1435G>T (p.Asp479Tyr)
c.466G>T (p.Asp156Tyr)
20g.63414161C=CA2374778322KCNQ2c.1504G= (p.Asp502=)
c.1558G= (p.Asp520=)
c.955G= (p.Asp319=)
c.1465G= (p.Asp489=)
c.1126G= (p.Asp376=)
c.1474G= (p.Asp492=)
c.1438G= (p.Asp480=)
c.615G=
c.166G= (p.Asp56=)
c.1555G= (p.Asp519=)
c.1528G= (p.Asp510=)
c.1432G= (p.Asp478=)
c.1039G= (p.Asp347=)
c.1501G= (p.Asp501=)
c.1435G= (p.Asp479=)
c.466G= (p.Asp156=)
20g.63414161C>GCA409645627KCNQ2c.1504G>C (p.Asp502His)
c.1558G>C (p.Asp520His)
c.955G>C (p.Asp319His)
c.1465G>C (p.Asp489His)
c.1126G>C (p.Asp376His)
c.1474G>C (p.Asp492His)
c.1438G>C (p.Asp480His)
c.615G>C
c.166G>C (p.Asp56His)
c.1555G>C (p.Asp519His)
c.1528G>C (p.Asp510His)
c.1432G>C (p.Asp478His)
c.1039G>C (p.Asp347His)
c.1501G>C (p.Asp501His)
c.1435G>C (p.Asp479His)
c.466G>C (p.Asp156His)
20g.63414161C>TCA9958406KCNQ2c.1504G>A (p.Asp502Asn)
c.1558G>A (p.Asp520Asn)
c.955G>A (p.Asp319Asn)
c.1465G>A (p.Asp489Asn)
c.1126G>A (p.Asp376Asn)
c.1474G>A (p.Asp492Asn)
c.1438G>A (p.Asp480Asn)
c.615G>A
c.166G>A (p.Asp56Asn)
c.1555G>A (p.Asp519Asn)
c.1528G>A (p.Asp510Asn)
c.1432G>A (p.Asp478Asn)
c.1039G>A (p.Asp347Asn)
c.1501G>A (p.Asp501Asn)
c.1435G>A (p.Asp479Asn)
c.466G>A (p.Asp156Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414162A>CCA409645632KCNQ2c.1503T>G (p.Asp501Glu)
c.1557T>G (p.Asp519Glu)
c.954T>G (p.Asp318Glu)
c.1464T>G (p.Asp488Glu)
c.1125T>G (p.Asp375Glu)
c.1473T>G (p.Asp491Glu)
c.1437T>G (p.Asp479Glu)
c.614T>G
c.165T>G (p.Asp55Glu)
c.1554T>G (p.Asp518Glu)
c.1527T>G (p.Asp509Glu)
c.1431T>G (p.Asp477Glu)
c.1038T>G (p.Asp346Glu)
c.1500T>G (p.Asp500Glu)
c.1434T>G (p.Asp478Glu)
c.465T>G (p.Asp155Glu)
20g.63414162A>GCA511203926KCNQ2c.1503T>C (p.Asp501=)
c.1557T>C (p.Asp519=)
c.954T>C (p.Asp318=)
c.1464T>C (p.Asp488=)
c.1125T>C (p.Asp375=)
c.1473T>C (p.Asp491=)
c.1437T>C (p.Asp479=)
c.614T>C
c.165T>C (p.Asp55=)
c.1554T>C (p.Asp518=)
c.1527T>C (p.Asp509=)
c.1431T>C (p.Asp477=)
c.1038T>C (p.Asp346=)
c.1500T>C (p.Asp500=)
c.1434T>C (p.Asp478=)
c.465T>C (p.Asp155=)
20g.63414162A>TCA409645635KCNQ2c.1503T>A (p.Asp501Glu)
c.1557T>A (p.Asp519Glu)
c.954T>A (p.Asp318Glu)
c.1464T>A (p.Asp488Glu)
c.1125T>A (p.Asp375Glu)
c.1473T>A (p.Asp491Glu)
c.1437T>A (p.Asp479Glu)
c.614T>A
c.165T>A (p.Asp55Glu)
c.1554T>A (p.Asp518Glu)
c.1527T>A (p.Asp509Glu)
c.1431T>A (p.Asp477Glu)
c.1038T>A (p.Asp346Glu)
c.1500T>A (p.Asp500Glu)
c.1434T>A (p.Asp478Glu)
c.465T>A (p.Asp155Glu)
20g.63414163T>ACA409645637KCNQ2c.1502A>T (p.Asp501Val)
c.1556A>T (p.Asp519Val)
c.953A>T (p.Asp318Val)
c.1463A>T (p.Asp488Val)
c.1124A>T (p.Asp375Val)
c.1472A>T (p.Asp491Val)
c.1436A>T (p.Asp479Val)
c.613A>T
c.164A>T (p.Asp55Val)
c.1553A>T (p.Asp518Val)
c.1526A>T (p.Asp509Val)
c.1430A>T (p.Asp477Val)
c.1037A>T (p.Asp346Val)
c.1499A>T (p.Asp500Val)
c.1433A>T (p.Asp478Val)
c.464A>T (p.Asp155Val)
20g.63414163T>CCA409645640KCNQ2c.1502A>G (p.Asp501Gly)
c.1556A>G (p.Asp519Gly)
c.953A>G (p.Asp318Gly)
c.1463A>G (p.Asp488Gly)
c.1124A>G (p.Asp375Gly)
c.1472A>G (p.Asp491Gly)
c.1436A>G (p.Asp479Gly)
c.613A>G
c.164A>G (p.Asp55Gly)
c.1553A>G (p.Asp518Gly)
c.1526A>G (p.Asp509Gly)
c.1430A>G (p.Asp477Gly)
c.1037A>G (p.Asp346Gly)
c.1499A>G (p.Asp500Gly)
c.1433A>G (p.Asp478Gly)
c.464A>G (p.Asp155Gly)
 dbSNP
20g.63414163T>GCA409645643KCNQ2c.1502A>C (p.Asp501Ala)
c.1556A>C (p.Asp519Ala)
c.953A>C (p.Asp318Ala)
c.1463A>C (p.Asp488Ala)
c.1124A>C (p.Asp375Ala)
c.1472A>C (p.Asp491Ala)
c.1436A>C (p.Asp479Ala)
c.613A>C
c.164A>C (p.Asp55Ala)
c.1553A>C (p.Asp518Ala)
c.1526A>C (p.Asp509Ala)
c.1430A>C (p.Asp477Ala)
c.1037A>C (p.Asp346Ala)
c.1499A>C (p.Asp500Ala)
c.1433A>C (p.Asp478Ala)
c.464A>C (p.Asp155Ala)
20g.63414163T=CA2374778323KCNQ2c.1502A= (p.Asp501=)
c.1556A= (p.Asp519=)
c.953A= (p.Asp318=)
c.1463A= (p.Asp488=)
c.1124A= (p.Asp375=)
c.1472A= (p.Asp491=)
c.1436A= (p.Asp479=)
c.613A=
c.164A= (p.Asp55=)
c.1553A= (p.Asp518=)
c.1526A= (p.Asp509=)
c.1430A= (p.Asp477=)
c.1037A= (p.Asp346=)
c.1499A= (p.Asp500=)
c.1433A= (p.Asp478=)
c.464A= (p.Asp155=)
20g.63414164C>ACA409645652KCNQ2c.1501G>T (p.Asp501Tyr)
c.1555G>T (p.Asp519Tyr)
c.952G>T (p.Asp318Tyr)
c.1462G>T (p.Asp488Tyr)
c.1123G>T (p.Asp375Tyr)
c.1471G>T (p.Asp491Tyr)
c.1435G>T (p.Asp479Tyr)
c.612G>T
c.163G>T (p.Asp55Tyr)
c.1552G>T (p.Asp518Tyr)
c.1525G>T (p.Asp509Tyr)
c.1429G>T (p.Asp477Tyr)
c.1036G>T (p.Asp346Tyr)
c.1498G>T (p.Asp500Tyr)
c.1432G>T (p.Asp478Tyr)
c.463G>T (p.Asp155Tyr)
20g.63414164C=CA2374778324KCNQ2c.1501G= (p.Asp501=)
c.1555G= (p.Asp519=)
c.952G= (p.Asp318=)
c.1462G= (p.Asp488=)
c.1123G= (p.Asp375=)
c.1471G= (p.Asp491=)
c.1435G= (p.Asp479=)
c.612G=
c.163G= (p.Asp55=)
c.1552G= (p.Asp518=)
c.1525G= (p.Asp509=)
c.1429G= (p.Asp477=)
c.1036G= (p.Asp346=)
c.1498G= (p.Asp500=)
c.1432G= (p.Asp478=)
c.463G= (p.Asp155=)
20g.63414164C>GCA409645649KCNQ2c.1501G>C (p.Asp501His)
c.1555G>C (p.Asp519His)
c.952G>C (p.Asp318His)
c.1462G>C (p.Asp488His)
c.1123G>C (p.Asp375His)
c.1471G>C (p.Asp491His)
c.1435G>C (p.Asp479His)
c.612G>C
c.163G>C (p.Asp55His)
c.1552G>C (p.Asp518His)
c.1525G>C (p.Asp509His)
c.1429G>C (p.Asp477His)
c.1036G>C (p.Asp346His)
c.1498G>C (p.Asp500His)
c.1432G>C (p.Asp478His)
c.463G>C (p.Asp155His)
20g.63414164C>TCA317429775KCNQ2c.1501G>A (p.Asp501Asn)
c.1555G>A (p.Asp519Asn)
c.952G>A (p.Asp318Asn)
c.1462G>A (p.Asp488Asn)
c.1123G>A (p.Asp375Asn)
c.1471G>A (p.Asp491Asn)
c.1435G>A (p.Asp479Asn)
c.612G>A
c.163G>A (p.Asp55Asn)
c.1552G>A (p.Asp518Asn)
c.1525G>A (p.Asp509Asn)
c.1429G>A (p.Asp477Asn)
c.1036G>A (p.Asp346Asn)
c.1498G>A (p.Asp500Asn)
c.1432G>A (p.Asp478Asn)
c.463G>A (p.Asp155Asn)
 dbSNP gnomAD v4
20g.63414165C>ACA511203927KCNQ2c.1500G>T (p.Val500=)
c.1554G>T (p.Val518=)
c.951G>T (p.Val317=)
c.1461G>T (p.Val487=)
c.1122G>T (p.Val374=)
c.1470G>T (p.Val490=)
c.1434G>T (p.Val478=)
c.611G>T
c.162G>T (p.Val54=)
c.1551G>T (p.Val517=)
c.1524G>T (p.Val508=)
c.1428G>T (p.Val476=)
c.1035G>T (p.Val345=)
c.1497G>T (p.Val499=)
c.1431G>T (p.Val477=)
c.462G>T (p.Val154=)
20g.63414165C>GCA511203928KCNQ2c.1500G>C (p.Val500=)
c.1554G>C (p.Val518=)
c.951G>C (p.Val317=)
c.1461G>C (p.Val487=)
c.1122G>C (p.Val374=)
c.1470G>C (p.Val490=)
c.1434G>C (p.Val478=)
c.611G>C
c.162G>C (p.Val54=)
c.1551G>C (p.Val517=)
c.1524G>C (p.Val508=)
c.1428G>C (p.Val476=)
c.1035G>C (p.Val345=)
c.1497G>C (p.Val499=)
c.1431G>C (p.Val477=)
c.462G>C (p.Val154=)
20g.63414165C>TCA511203929KCNQ2c.1500G>A (p.Val500=)
c.1554G>A (p.Val518=)
c.951G>A (p.Val317=)
c.1461G>A (p.Val487=)
c.1122G>A (p.Val374=)
c.1470G>A (p.Val490=)
c.1434G>A (p.Val478=)
c.611G>A
c.162G>A (p.Val54=)
c.1551G>A (p.Val517=)
c.1524G>A (p.Val508=)
c.1428G>A (p.Val476=)
c.1035G>A (p.Val345=)
c.1497G>A (p.Val499=)
c.1431G>A (p.Val477=)
c.462G>A (p.Val154=)
20g.63414166A>CCA409645656KCNQ2c.1499T>G (p.Val500Gly)
c.1553T>G (p.Val518Gly)
c.950T>G (p.Val317Gly)
c.1460T>G (p.Val487Gly)
c.1121T>G (p.Val374Gly)
c.1469T>G (p.Val490Gly)
c.1433T>G (p.Val478Gly)
c.610T>G
c.161T>G (p.Val54Gly)
c.1550T>G (p.Val517Gly)
c.1523T>G (p.Val508Gly)
c.1427T>G (p.Val476Gly)
c.1034T>G (p.Val345Gly)
c.1496T>G (p.Val499Gly)
c.1430T>G (p.Val477Gly)
c.461T>G (p.Val154Gly)
20g.63414166A>GCA409645659KCNQ2c.1499T>C (p.Val500Ala)
c.1553T>C (p.Val518Ala)
c.950T>C (p.Val317Ala)
c.1460T>C (p.Val487Ala)
c.1121T>C (p.Val374Ala)
c.1469T>C (p.Val490Ala)
c.1433T>C (p.Val478Ala)
c.610T>C
c.161T>C (p.Val54Ala)
c.1550T>C (p.Val517Ala)
c.1523T>C (p.Val508Ala)
c.1427T>C (p.Val476Ala)
c.1034T>C (p.Val345Ala)
c.1496T>C (p.Val499Ala)
c.1430T>C (p.Val477Ala)
c.461T>C (p.Val154Ala)
20g.63414166A>TCA409645662KCNQ2c.1499T>A (p.Val500Glu)
c.1553T>A (p.Val518Glu)
c.950T>A (p.Val317Glu)
c.1460T>A (p.Val487Glu)
c.1121T>A (p.Val374Glu)
c.1469T>A (p.Val490Glu)
c.1433T>A (p.Val478Glu)
c.610T>A
c.161T>A (p.Val54Glu)
c.1550T>A (p.Val517Glu)
c.1523T>A (p.Val508Glu)
c.1427T>A (p.Val476Glu)
c.1034T>A (p.Val345Glu)
c.1496T>A (p.Val499Glu)
c.1430T>A (p.Val477Glu)
c.461T>A (p.Val154Glu)
20g.63414167C>ACA409645665KCNQ2c.1498G>T (p.Val500Leu)
c.1552G>T (p.Val518Leu)
c.949G>T (p.Val317Leu)
c.1459G>T (p.Val487Leu)
c.1120G>T (p.Val374Leu)
c.1468G>T (p.Val490Leu)
c.1432G>T (p.Val478Leu)
c.609G>T
c.160G>T (p.Val54Leu)
c.1549G>T (p.Val517Leu)
c.1522G>T (p.Val508Leu)
c.1426G>T (p.Val476Leu)
c.1033G>T (p.Val345Leu)
c.1495G>T (p.Val499Leu)
c.1429G>T (p.Val477Leu)
c.460G>T (p.Val154Leu)
20g.63414167C=CA2374778325KCNQ2c.1498G= (p.Val500=)
c.1552G= (p.Val518=)
c.949G= (p.Val317=)
c.1459G= (p.Val487=)
c.1120G= (p.Val374=)
c.1468G= (p.Val490=)
c.1432G= (p.Val478=)
c.609G=
c.160G= (p.Val54=)
c.1549G= (p.Val517=)
c.1522G= (p.Val508=)
c.1426G= (p.Val476=)
c.1033G= (p.Val345=)
c.1495G= (p.Val499=)
c.1429G= (p.Val477=)
c.460G= (p.Val154=)
20g.63414167C>GCA409645667KCNQ2c.1498G>C (p.Val500Leu)
c.1552G>C (p.Val518Leu)
c.949G>C (p.Val317Leu)
c.1459G>C (p.Val487Leu)
c.1120G>C (p.Val374Leu)
c.1468G>C (p.Val490Leu)
c.1432G>C (p.Val478Leu)
c.609G>C
c.160G>C (p.Val54Leu)
c.1549G>C (p.Val517Leu)
c.1522G>C (p.Val508Leu)
c.1426G>C (p.Val476Leu)
c.1033G>C (p.Val345Leu)
c.1495G>C (p.Val499Leu)
c.1429G>C (p.Val477Leu)
c.460G>C (p.Val154Leu)
20g.63414167C>TCA409645670KCNQ2c.1498G>A (p.Val500Met)
c.1552G>A (p.Val518Met)
c.949G>A (p.Val317Met)
c.1459G>A (p.Val487Met)
c.1120G>A (p.Val374Met)
c.1468G>A (p.Val490Met)
c.1432G>A (p.Val478Met)
c.609G>A
c.160G>A (p.Val54Met)
c.1549G>A (p.Val517Met)
c.1522G>A (p.Val508Met)
c.1426G>A (p.Val476Met)
c.1033G>A (p.Val345Met)
c.1495G>A (p.Val499Met)
c.1429G>A (p.Val477Met)
c.460G>A (p.Val154Met)
 dbSNP
20g.63414168A>CCA409645672KCNQ2c.1497T>G (p.Ile499Met)
c.1551T>G (p.Ile517Met)
c.948T>G (p.Ile316Met)
c.1458T>G (p.Ile486Met)
c.1119T>G (p.Ile373Met)
c.1467T>G (p.Ile489Met)
c.1431T>G (p.Ile477Met)
c.608T>G
c.159T>G (p.Ile53Met)
c.1548T>G (p.Ile516Met)
c.1521T>G (p.Ile507Met)
c.1425T>G (p.Ile475Met)
c.1032T>G (p.Ile344Met)
c.1494T>G (p.Ile498Met)
c.1428T>G (p.Ile476Met)
c.459T>G (p.Ile153Met)
20g.63414168A>GCA511203933KCNQ2c.1497T>C (p.Ile499=)
c.1551T>C (p.Ile517=)
c.948T>C (p.Ile316=)
c.1458T>C (p.Ile486=)
c.1119T>C (p.Ile373=)
c.1467T>C (p.Ile489=)
c.1431T>C (p.Ile477=)
c.608T>C
c.159T>C (p.Ile53=)
c.1548T>C (p.Ile516=)
c.1521T>C (p.Ile507=)
c.1425T>C (p.Ile475=)
c.1032T>C (p.Ile344=)
c.1494T>C (p.Ile498=)
c.1428T>C (p.Ile476=)
c.459T>C (p.Ile153=)
20g.63414168A>TCA511203934KCNQ2c.1497T>A (p.Ile499=)
c.1551T>A (p.Ile517=)
c.948T>A (p.Ile316=)
c.1458T>A (p.Ile486=)
c.1119T>A (p.Ile373=)
c.1467T>A (p.Ile489=)
c.1431T>A (p.Ile477=)
c.608T>A
c.159T>A (p.Ile53=)
c.1548T>A (p.Ile516=)
c.1521T>A (p.Ile507=)
c.1425T>A (p.Ile475=)
c.1032T>A (p.Ile344=)
c.1494T>A (p.Ile498=)
c.1428T>A (p.Ile476=)
c.459T>A (p.Ile153=)
20g.63414169A=CA2374778326KCNQ2c.1496T= (p.Ile499=)
c.1550T= (p.Ile517=)
c.947T= (p.Ile316=)
c.1457T= (p.Ile486=)
c.1118T= (p.Ile373=)
c.1466T= (p.Ile489=)
c.1430T= (p.Ile477=)
c.607T=
c.158T= (p.Ile53=)
c.1547T= (p.Ile516=)
c.1520T= (p.Ile507=)
c.1424T= (p.Ile475=)
c.1031T= (p.Ile344=)
c.1493T= (p.Ile498=)
c.1427T= (p.Ile476=)
c.458T= (p.Ile153=)
20g.63414169A>CCA409645675KCNQ2c.1496T>G (p.Ile499Ser)
c.1550T>G (p.Ile517Ser)
c.947T>G (p.Ile316Ser)
c.1457T>G (p.Ile486Ser)
c.1118T>G (p.Ile373Ser)
c.1466T>G (p.Ile489Ser)
c.1430T>G (p.Ile477Ser)
c.607T>G
c.158T>G (p.Ile53Ser)
c.1547T>G (p.Ile516Ser)
c.1520T>G (p.Ile507Ser)
c.1424T>G (p.Ile475Ser)
c.1031T>G (p.Ile344Ser)
c.1493T>G (p.Ile498Ser)
c.1427T>G (p.Ile476Ser)
c.458T>G (p.Ile153Ser)
20g.63414169A>GCA9958407KCNQ2c.1496T>C (p.Ile499Thr)
c.1550T>C (p.Ile517Thr)
c.947T>C (p.Ile316Thr)
c.1457T>C (p.Ile486Thr)
c.1118T>C (p.Ile373Thr)
c.1466T>C (p.Ile489Thr)
c.1430T>C (p.Ile477Thr)
c.607T>C
c.158T>C (p.Ile53Thr)
c.1547T>C (p.Ile516Thr)
c.1520T>C (p.Ile507Thr)
c.1424T>C (p.Ile475Thr)
c.1031T>C (p.Ile344Thr)
c.1493T>C (p.Ile498Thr)
c.1427T>C (p.Ile476Thr)
c.458T>C (p.Ile153Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414169A>TCA409645680KCNQ2c.1496T>A (p.Ile499Asn)
c.1550T>A (p.Ile517Asn)
c.947T>A (p.Ile316Asn)
c.1457T>A (p.Ile486Asn)
c.1118T>A (p.Ile373Asn)
c.1466T>A (p.Ile489Asn)
c.1430T>A (p.Ile477Asn)
c.607T>A
c.158T>A (p.Ile53Asn)
c.1547T>A (p.Ile516Asn)
c.1520T>A (p.Ile507Asn)
c.1424T>A (p.Ile475Asn)
c.1031T>A (p.Ile344Asn)
c.1493T>A (p.Ile498Asn)
c.1427T>A (p.Ile476Asn)
c.458T>A (p.Ile153Asn)
20g.63414170T>ACA409645683KCNQ2c.1495A>T (p.Ile499Phe)
c.1549A>T (p.Ile517Phe)
c.946A>T (p.Ile316Phe)
c.1456A>T (p.Ile486Phe)
c.1117A>T (p.Ile373Phe)
c.1465A>T (p.Ile489Phe)
c.1429A>T (p.Ile477Phe)
c.606A>T
c.157A>T (p.Ile53Phe)
c.1546A>T (p.Ile516Phe)
c.1519A>T (p.Ile507Phe)
c.1423A>T (p.Ile475Phe)
c.1030A>T (p.Ile344Phe)
c.1492A>T (p.Ile498Phe)
c.1426A>T (p.Ile476Phe)
c.457A>T (p.Ile153Phe)
20g.63414170T>CCA9958408KCNQ2c.1495A>G (p.Ile499Val)
c.1549A>G (p.Ile517Val)
c.946A>G (p.Ile316Val)
c.1456A>G (p.Ile486Val)
c.1117A>G (p.Ile373Val)
c.1465A>G (p.Ile489Val)
c.1429A>G (p.Ile477Val)
c.606A>G
c.157A>G (p.Ile53Val)
c.1546A>G (p.Ile516Val)
c.1519A>G (p.Ile507Val)
c.1423A>G (p.Ile475Val)
c.1030A>G (p.Ile344Val)
c.1492A>G (p.Ile498Val)
c.1426A>G (p.Ile476Val)
c.457A>G (p.Ile153Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414170T>GCA409645688KCNQ2c.1495A>C (p.Ile499Leu)
c.1549A>C (p.Ile517Leu)
c.946A>C (p.Ile316Leu)
c.1456A>C (p.Ile486Leu)
c.1117A>C (p.Ile373Leu)
c.1465A>C (p.Ile489Leu)
c.1429A>C (p.Ile477Leu)
c.606A>C
c.157A>C (p.Ile53Leu)
c.1546A>C (p.Ile516Leu)
c.1519A>C (p.Ile507Leu)
c.1423A>C (p.Ile475Leu)
c.1030A>C (p.Ile344Leu)
c.1492A>C (p.Ile498Leu)
c.1426A>C (p.Ile476Leu)
c.457A>C (p.Ile153Leu)
20g.63414170T=CA2374778327KCNQ2c.1495A= (p.Ile499=)
c.1549A= (p.Ile517=)
c.946A= (p.Ile316=)
c.1456A= (p.Ile486=)
c.1117A= (p.Ile373=)
c.1465A= (p.Ile489=)
c.1429A= (p.Ile477=)
c.606A=
c.157A= (p.Ile53=)
c.1546A= (p.Ile516=)
c.1519A= (p.Ile507=)
c.1423A= (p.Ile475=)
c.1030A= (p.Ile344=)
c.1492A= (p.Ile498=)
c.1426A= (p.Ile476=)
c.457A= (p.Ile153=)
20g.63414171G>ACA511203936KCNQ2c.1494C>T (p.Asp498=)
c.1548C>T (p.Asp516=)
c.945C>T (p.Asp315=)
c.1455C>T (p.Asp485=)
c.1116C>T (p.Asp372=)
c.1464C>T (p.Asp488=)
c.1428C>T (p.Asp476=)
c.605C>T
c.156C>T (p.Asp52=)
c.1545C>T (p.Asp515=)
c.1518C>T (p.Asp506=)
c.1422C>T (p.Asp474=)
c.1029C>T (p.Asp343=)
c.1491C>T (p.Asp497=)
c.1425C>T (p.Asp475=)
c.456C>T (p.Asp152=)
20g.63414171G>CCA409645694KCNQ2c.1494C>G (p.Asp498Glu)
c.1548C>G (p.Asp516Glu)
c.945C>G (p.Asp315Glu)
c.1455C>G (p.Asp485Glu)
c.1116C>G (p.Asp372Glu)
c.1464C>G (p.Asp488Glu)
c.1428C>G (p.Asp476Glu)
c.605C>G
c.156C>G (p.Asp52Glu)
c.1545C>G (p.Asp515Glu)
c.1518C>G (p.Asp506Glu)
c.1422C>G (p.Asp474Glu)
c.1029C>G (p.Asp343Glu)
c.1491C>G (p.Asp497Glu)
c.1425C>G (p.Asp475Glu)
c.456C>G (p.Asp152Glu)
 dbSNP gnomAD v2
20g.63414171G=CA2374778328KCNQ2c.1494C= (p.Asp498=)
c.1548C= (p.Asp516=)
c.945C= (p.Asp315=)
c.1455C= (p.Asp485=)
c.1116C= (p.Asp372=)
c.1464C= (p.Asp488=)
c.1428C= (p.Asp476=)
c.605C=
c.156C= (p.Asp52=)
c.1545C= (p.Asp515=)
c.1518C= (p.Asp506=)
c.1422C= (p.Asp474=)
c.1029C= (p.Asp343=)
c.1491C= (p.Asp497=)
c.1425C= (p.Asp475=)
c.456C= (p.Asp152=)
20g.63414171G>TCA409645693KCNQ2c.1494C>A (p.Asp498Glu)
c.1548C>A (p.Asp516Glu)
c.945C>A (p.Asp315Glu)
c.1455C>A (p.Asp485Glu)
c.1116C>A (p.Asp372Glu)
c.1464C>A (p.Asp488Glu)
c.1428C>A (p.Asp476Glu)
c.605C>A
c.156C>A (p.Asp52Glu)
c.1545C>A (p.Asp515Glu)
c.1518C>A (p.Asp506Glu)
c.1422C>A (p.Asp474Glu)
c.1029C>A (p.Asp343Glu)
c.1491C>A (p.Asp497Glu)
c.1425C>A (p.Asp475Glu)
c.456C>A (p.Asp152Glu)
20g.63414172T>ACA409645697KCNQ2c.1493A>T (p.Asp498Val)
c.1547A>T (p.Asp516Val)
c.944A>T (p.Asp315Val)
c.1454A>T (p.Asp485Val)
c.1115A>T (p.Asp372Val)
c.1463A>T (p.Asp488Val)
c.1427A>T (p.Asp476Val)
c.604A>T
c.155A>T (p.Asp52Val)
c.1544A>T (p.Asp515Val)
c.1517A>T (p.Asp506Val)
c.1421A>T (p.Asp474Val)
c.1028A>T (p.Asp343Val)
c.1490A>T (p.Asp497Val)
c.1424A>T (p.Asp475Val)
c.455A>T (p.Asp152Val)
20g.63414172T>CCA409645700KCNQ2c.1493A>G (p.Asp498Gly)
c.1547A>G (p.Asp516Gly)
c.944A>G (p.Asp315Gly)
c.1454A>G (p.Asp485Gly)
c.1115A>G (p.Asp372Gly)
c.1463A>G (p.Asp488Gly)
c.1427A>G (p.Asp476Gly)
c.604A>G
c.155A>G (p.Asp52Gly)
c.1544A>G (p.Asp515Gly)
c.1517A>G (p.Asp506Gly)
c.1421A>G (p.Asp474Gly)
c.1028A>G (p.Asp343Gly)
c.1490A>G (p.Asp497Gly)
c.1424A>G (p.Asp475Gly)
c.455A>G (p.Asp152Gly)
20g.63414172T>GCA409645702KCNQ2c.1493A>C (p.Asp498Ala)
c.1547A>C (p.Asp516Ala)
c.944A>C (p.Asp315Ala)
c.1454A>C (p.Asp485Ala)
c.1115A>C (p.Asp372Ala)
c.1463A>C (p.Asp488Ala)
c.1427A>C (p.Asp476Ala)
c.604A>C
c.155A>C (p.Asp52Ala)
c.1544A>C (p.Asp515Ala)
c.1517A>C (p.Asp506Ala)
c.1421A>C (p.Asp474Ala)
c.1028A>C (p.Asp343Ala)
c.1490A>C (p.Asp497Ala)
c.1424A>C (p.Asp475Ala)
c.455A>C (p.Asp152Ala)
20g.63414173C>ACA409645706KCNQ2c.1492G>T (p.Asp498Tyr)
c.1546G>T (p.Asp516Tyr)
c.943G>T (p.Asp315Tyr)
c.1453G>T (p.Asp485Tyr)
c.1114G>T (p.Asp372Tyr)
c.1462G>T (p.Asp488Tyr)
c.1426G>T (p.Asp476Tyr)
c.603G>T
c.154G>T (p.Asp52Tyr)
c.1543G>T (p.Asp515Tyr)
c.1516G>T (p.Asp506Tyr)
c.1420G>T (p.Asp474Tyr)
c.1027G>T (p.Asp343Tyr)
c.1489G>T (p.Asp497Tyr)
c.1423G>T (p.Asp475Tyr)
c.454G>T (p.Asp152Tyr)
20g.63414173C>GCA409645707KCNQ2c.1492G>C (p.Asp498His)
c.1546G>C (p.Asp516His)
c.943G>C (p.Asp315His)
c.1453G>C (p.Asp485His)
c.1114G>C (p.Asp372His)
c.1462G>C (p.Asp488His)
c.1426G>C (p.Asp476His)
c.603G>C
c.154G>C (p.Asp52His)
c.1543G>C (p.Asp515His)
c.1516G>C (p.Asp506His)
c.1420G>C (p.Asp474His)
c.1027G>C (p.Asp343His)
c.1489G>C (p.Asp497His)
c.1423G>C (p.Asp475His)
c.454G>C (p.Asp152His)
20g.63414173C>TCA409645709KCNQ2c.1492G>A (p.Asp498Asn)
c.1546G>A (p.Asp516Asn)
c.943G>A (p.Asp315Asn)
c.1453G>A (p.Asp485Asn)
c.1114G>A (p.Asp372Asn)
c.1462G>A (p.Asp488Asn)
c.1426G>A (p.Asp476Asn)
c.603G>A
c.154G>A (p.Asp52Asn)
c.1543G>A (p.Asp515Asn)
c.1516G>A (p.Asp506Asn)
c.1420G>A (p.Asp474Asn)
c.1027G>A (p.Asp343Asn)
c.1489G>A (p.Asp497Asn)
c.1423G>A (p.Asp475Asn)
c.454G>A (p.Asp152Asn)
20g.63414174C>ACA9958409KCNQ2c.1491G>T (p.Glu497Asp)
c.1545G>T (p.Glu515Asp)
c.942G>T (p.Glu314Asp)
c.1452G>T (p.Glu484Asp)
c.1113G>T (p.Glu371Asp)
c.1461G>T (p.Glu487Asp)
c.1425G>T (p.Glu475Asp)
c.602G>T
c.153G>T (p.Glu51Asp)
c.1542G>T (p.Glu514Asp)
c.1515G>T (p.Glu505Asp)
c.1419G>T (p.Glu473Asp)
c.1026G>T (p.Glu342Asp)
c.1488G>T (p.Glu496Asp)
c.1422G>T (p.Glu474Asp)
c.453G>T (p.Glu151Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414174C=CA2374778329KCNQ2c.1491G= (p.Glu497=)
c.1545G= (p.Glu515=)
c.942G= (p.Glu314=)
c.1452G= (p.Glu484=)
c.1113G= (p.Glu371=)
c.1461G= (p.Glu487=)
c.1425G= (p.Glu475=)
c.602G=
c.153G= (p.Glu51=)
c.1542G= (p.Glu514=)
c.1515G= (p.Glu505=)
c.1419G= (p.Glu473=)
c.1026G= (p.Glu342=)
c.1488G= (p.Glu496=)
c.1422G= (p.Glu474=)
c.453G= (p.Glu151=)
20g.63414174C>GCA288924KCNQ2c.1491G>C (p.Glu497Asp)
c.1545G>C (p.Glu515Asp)
c.942G>C (p.Glu314Asp)
c.1452G>C (p.Glu484Asp)
c.1113G>C (p.Glu371Asp)
c.1461G>C (p.Glu487Asp)
c.1425G>C (p.Glu475Asp)
c.602G>C
c.153G>C (p.Glu51Asp)
c.1542G>C (p.Glu514Asp)
c.1515G>C (p.Glu505Asp)
c.1419G>C (p.Glu473Asp)
c.1026G>C (p.Glu342Asp)
c.1488G>C (p.Glu496Asp)
c.1422G>C (p.Glu474Asp)
c.453G>C (p.Glu151Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414174C>TCA511203940KCNQ2c.1491G>A (p.Glu497=)
c.1545G>A (p.Glu515=)
c.942G>A (p.Glu314=)
c.1452G>A (p.Glu484=)
c.1113G>A (p.Glu371=)
c.1461G>A (p.Glu487=)
c.1425G>A (p.Glu475=)
c.602G>A
c.153G>A (p.Glu51=)
c.1542G>A (p.Glu514=)
c.1515G>A (p.Glu505=)
c.1419G>A (p.Glu473=)
c.1026G>A (p.Glu342=)
c.1488G>A (p.Glu496=)
c.1422G>A (p.Glu474=)
c.453G>A (p.Glu151=)
20g.63414175T>ACA409645719KCNQ2c.1490A>T (p.Glu497Val)
c.1544A>T (p.Glu515Val)
c.941A>T (p.Glu314Val)
c.1451A>T (p.Glu484Val)
c.1112A>T (p.Glu371Val)
c.1460A>T (p.Glu487Val)
c.1424A>T (p.Glu475Val)
c.601A>T
c.152A>T (p.Glu51Val)
c.1541A>T (p.Glu514Val)
c.1514A>T (p.Glu505Val)
c.1418A>T (p.Glu473Val)
c.1025A>T (p.Glu342Val)
c.1487A>T (p.Glu496Val)
c.1421A>T (p.Glu474Val)
c.452A>T (p.Glu151Val)
20g.63414175T>CCA409645721KCNQ2c.1490A>G (p.Glu497Gly)
c.1544A>G (p.Glu515Gly)
c.941A>G (p.Glu314Gly)
c.1451A>G (p.Glu484Gly)
c.1112A>G (p.Glu371Gly)
c.1460A>G (p.Glu487Gly)
c.1424A>G (p.Glu475Gly)
c.601A>G
c.152A>G (p.Glu51Gly)
c.1541A>G (p.Glu514Gly)
c.1514A>G (p.Glu505Gly)
c.1418A>G (p.Glu473Gly)
c.1025A>G (p.Glu342Gly)
c.1487A>G (p.Glu496Gly)
c.1421A>G (p.Glu474Gly)
c.452A>G (p.Glu151Gly)
 gnomAD v4
20g.63414175T>GCA409645724KCNQ2c.1490A>C (p.Glu497Ala)
c.1544A>C (p.Glu515Ala)
c.941A>C (p.Glu314Ala)
c.1451A>C (p.Glu484Ala)
c.1112A>C (p.Glu371Ala)
c.1460A>C (p.Glu487Ala)
c.1424A>C (p.Glu475Ala)
c.601A>C
c.152A>C (p.Glu51Ala)
c.1541A>C (p.Glu514Ala)
c.1514A>C (p.Glu505Ala)
c.1418A>C (p.Glu473Ala)
c.1025A>C (p.Glu342Ala)
c.1487A>C (p.Glu496Ala)
c.1421A>C (p.Glu474Ala)
c.452A>C (p.Glu151Ala)
20g.63414176C>ACA409645726KCNQ2c.1489G>T (p.Glu497Ter)
c.1543G>T (p.Glu515Ter)
c.940G>T (p.Glu314Ter)
c.1450G>T (p.Glu484Ter)
c.1111G>T (p.Glu371Ter)
c.1459G>T (p.Glu487Ter)
c.1423G>T (p.Glu475Ter)
c.600G>T
c.151G>T (p.Glu51Ter)
c.1540G>T (p.Glu514Ter)
c.1513G>T (p.Glu505Ter)
c.1417G>T (p.Glu473Ter)
c.1024G>T (p.Glu342Ter)
c.1486G>T (p.Glu496Ter)
c.1420G>T (p.Glu474Ter)
c.451G>T (p.Glu151Ter)
20g.63414176C>GCA409645728KCNQ2c.1489G>C (p.Glu497Gln)
c.1543G>C (p.Glu515Gln)
c.940G>C (p.Glu314Gln)
c.1450G>C (p.Glu484Gln)
c.1111G>C (p.Glu371Gln)
c.1459G>C (p.Glu487Gln)
c.1423G>C (p.Glu475Gln)
c.600G>C
c.151G>C (p.Glu51Gln)
c.1540G>C (p.Glu514Gln)
c.1513G>C (p.Glu505Gln)
c.1417G>C (p.Glu473Gln)
c.1024G>C (p.Glu342Gln)
c.1486G>C (p.Glu496Gln)
c.1420G>C (p.Glu474Gln)
c.451G>C (p.Glu151Gln)
 ClinVar COSMIC COSMIC COSMIC
20g.63414176C>TCA409645730KCNQ2c.1489G>A (p.Glu497Lys)
c.1543G>A (p.Glu515Lys)
c.940G>A (p.Glu314Lys)
c.1450G>A (p.Glu484Lys)
c.1111G>A (p.Glu371Lys)
c.1459G>A (p.Glu487Lys)
c.1423G>A (p.Glu475Lys)
c.600G>A
c.151G>A (p.Glu51Lys)
c.1540G>A (p.Glu514Lys)
c.1513G>A (p.Glu505Lys)
c.1417G>A (p.Glu473Lys)
c.1024G>A (p.Glu342Lys)
c.1486G>A (p.Glu496Lys)
c.1420G>A (p.Glu474Lys)
c.451G>A (p.Glu151Lys)
20g.63414177T>ACA511203941KCNQ2c.1488A>T (p.Gly496=)
c.1542A>T (p.Gly514=)
c.939A>T (p.Gly313=)
c.1449A>T (p.Gly483=)
c.1110A>T (p.Gly370=)
c.1458A>T (p.Gly486=)
c.1422A>T (p.Gly474=)
c.599A>T
c.150A>T (p.Gly50=)
c.1539A>T (p.Gly513=)
c.1512A>T (p.Gly504=)
c.1416A>T (p.Gly472=)
c.1023A>T (p.Gly341=)
c.1485A>T (p.Gly495=)
c.1419A>T (p.Gly473=)
c.450A>T (p.Gly150=)
20g.63414177T>CCA9958410KCNQ2c.1488A>G (p.Gly496=)
c.1542A>G (p.Gly514=)
c.939A>G (p.Gly313=)
c.1449A>G (p.Gly483=)
c.1110A>G (p.Gly370=)
c.1458A>G (p.Gly486=)
c.1422A>G (p.Gly474=)
c.599A>G
c.150A>G (p.Gly50=)
c.1539A>G (p.Gly513=)
c.1512A>G (p.Gly504=)
c.1416A>G (p.Gly472=)
c.1023A>G (p.Gly341=)
c.1485A>G (p.Gly495=)
c.1419A>G (p.Gly473=)
c.450A>G (p.Gly150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414177T>GCA511203942KCNQ2c.1488A>C (p.Gly496=)
c.1542A>C (p.Gly514=)
c.939A>C (p.Gly313=)
c.1449A>C (p.Gly483=)
c.1110A>C (p.Gly370=)
c.1458A>C (p.Gly486=)
c.1422A>C (p.Gly474=)
c.599A>C
c.150A>C (p.Gly50=)
c.1539A>C (p.Gly513=)
c.1512A>C (p.Gly504=)
c.1416A>C (p.Gly472=)
c.1023A>C (p.Gly341=)
c.1485A>C (p.Gly495=)
c.1419A>C (p.Gly473=)
c.450A>C (p.Gly150=)
20g.63414177T=CA2374778330KCNQ2c.1488A= (p.Gly496=)
c.1542A= (p.Gly514=)
c.939A= (p.Gly313=)
c.1449A= (p.Gly483=)
c.1110A= (p.Gly370=)
c.1458A= (p.Gly486=)
c.1422A= (p.Gly474=)
c.599A=
c.150A= (p.Gly50=)
c.1539A= (p.Gly513=)
c.1512A= (p.Gly504=)
c.1416A= (p.Gly472=)
c.1023A= (p.Gly341=)
c.1485A= (p.Gly495=)
c.1419A= (p.Gly473=)
c.450A= (p.Gly150=)
20g.63414178C>ACA409645733KCNQ2c.1487G>T (p.Gly496Val)
c.1541G>T (p.Gly514Val)
c.938G>T (p.Gly313Val)
c.1448G>T (p.Gly483Val)
c.1109G>T (p.Gly370Val)
c.1457G>T (p.Gly486Val)
c.1421G>T (p.Gly474Val)
c.598G>T
c.149G>T (p.Gly50Val)
c.1538G>T (p.Gly513Val)
c.1511G>T (p.Gly504Val)
c.1415G>T (p.Gly472Val)
c.1022G>T (p.Gly341Val)
c.1484G>T (p.Gly495Val)
c.1418G>T (p.Gly473Val)
c.449G>T (p.Gly150Val)
20g.63414178C=CA2374778331KCNQ2c.1487G= (p.Gly496=)
c.1541G= (p.Gly514=)
c.938G= (p.Gly313=)
c.1448G= (p.Gly483=)
c.1109G= (p.Gly370=)
c.1457G= (p.Gly486=)
c.1421G= (p.Gly474=)
c.598G=
c.149G= (p.Gly50=)
c.1538G= (p.Gly513=)
c.1511G= (p.Gly504=)
c.1415G= (p.Gly472=)
c.1022G= (p.Gly341=)
c.1484G= (p.Gly495=)
c.1418G= (p.Gly473=)
c.449G= (p.Gly150=)
20g.63414178C>GCA409645734KCNQ2c.1487G>C (p.Gly496Ala)
c.1541G>C (p.Gly514Ala)
c.938G>C (p.Gly313Ala)
c.1448G>C (p.Gly483Ala)
c.1109G>C (p.Gly370Ala)
c.1457G>C (p.Gly486Ala)
c.1421G>C (p.Gly474Ala)
c.598G>C
c.149G>C (p.Gly50Ala)
c.1538G>C (p.Gly513Ala)
c.1511G>C (p.Gly504Ala)
c.1415G>C (p.Gly472Ala)
c.1022G>C (p.Gly341Ala)
c.1484G>C (p.Gly495Ala)
c.1418G>C (p.Gly473Ala)
c.449G>C (p.Gly150Ala)
20g.63414178C>TCA409645737KCNQ2c.1487G>A (p.Gly496Glu)
c.1541G>A (p.Gly514Glu)
c.938G>A (p.Gly313Glu)
c.1448G>A (p.Gly483Glu)
c.1109G>A (p.Gly370Glu)
c.1457G>A (p.Gly486Glu)
c.1421G>A (p.Gly474Glu)
c.598G>A
c.149G>A (p.Gly50Glu)
c.1538G>A (p.Gly513Glu)
c.1511G>A (p.Gly504Glu)
c.1415G>A (p.Gly472Glu)
c.1022G>A (p.Gly341Glu)
c.1484G>A (p.Gly495Glu)
c.1418G>A (p.Gly473Glu)
c.449G>A (p.Gly150Glu)
 ClinVar dbSNP gnomAD v4
20g.63414179C>ACA409645740KCNQ2c.1486G>T (p.Gly496Ter)
c.1540G>T (p.Gly514Ter)
c.937G>T (p.Gly313Ter)
c.1447G>T (p.Gly483Ter)
c.1108G>T (p.Gly370Ter)
c.1456G>T (p.Gly486Ter)
c.1420G>T (p.Gly474Ter)
c.597G>T
c.148G>T (p.Gly50Ter)
c.1537G>T (p.Gly513Ter)
c.1510G>T (p.Gly504Ter)
c.1414G>T (p.Gly472Ter)
c.1021G>T (p.Gly341Ter)
c.1483G>T (p.Gly495Ter)
c.1417G>T (p.Gly473Ter)
c.448G>T (p.Gly150Ter)
 ClinVar dbSNP
20g.63414179C=CA2374778332KCNQ2c.1486G= (p.Gly496=)
c.1540G= (p.Gly514=)
c.937G= (p.Gly313=)
c.1447G= (p.Gly483=)
c.1108G= (p.Gly370=)
c.1456G= (p.Gly486=)
c.1420G= (p.Gly474=)
c.597G=
c.148G= (p.Gly50=)
c.1537G= (p.Gly513=)
c.1510G= (p.Gly504=)
c.1414G= (p.Gly472=)
c.1021G= (p.Gly341=)
c.1483G= (p.Gly495=)
c.1417G= (p.Gly473=)
c.448G= (p.Gly150=)
20g.63414179C>GCA409645742KCNQ2c.1486G>C (p.Gly496Arg)
c.1540G>C (p.Gly514Arg)
c.937G>C (p.Gly313Arg)
c.1447G>C (p.Gly483Arg)
c.1108G>C (p.Gly370Arg)
c.1456G>C (p.Gly486Arg)
c.1420G>C (p.Gly474Arg)
c.597G>C
c.148G>C (p.Gly50Arg)
c.1537G>C (p.Gly513Arg)
c.1510G>C (p.Gly504Arg)
c.1414G>C (p.Gly472Arg)
c.1021G>C (p.Gly341Arg)
c.1483G>C (p.Gly495Arg)
c.1417G>C (p.Gly473Arg)
c.448G>C (p.Gly150Arg)
20g.63414179C>TCA315564KCNQ2c.1486G>A (p.Gly496Arg)
c.1540G>A (p.Gly514Arg)
c.937G>A (p.Gly313Arg)
c.1447G>A (p.Gly483Arg)
c.1108G>A (p.Gly370Arg)
c.1456G>A (p.Gly486Arg)
c.1420G>A (p.Gly474Arg)
c.597G>A
c.148G>A (p.Gly50Arg)
c.1537G>A (p.Gly513Arg)
c.1510G>A (p.Gly504Arg)
c.1414G>A (p.Gly472Arg)
c.1021G>A (p.Gly341Arg)
c.1483G>A (p.Gly495Arg)
c.1417G>A (p.Gly473Arg)
c.448G>A (p.Gly150Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414179_63414180delinsCGCA2374778333KCNQ2c.1485_1486delinsCG (p.Pro495=)
c.1539_1540delinsCG (p.Pro513=)
c.936_937delinsCG (p.Pro312=)
c.1446_1447delinsCG (p.Pro482=)
c.1107_1108delinsCG (p.Pro369=)
c.1455_1456delinsCG (p.Pro485=)
c.1419_1420delinsCG (p.Pro473=)
c.596_597delinsCG
c.147_148delinsCG (p.Pro49=)
c.1536_1537delinsCG (p.Pro512=)
c.1509_1510delinsCG (p.Pro503=)
c.1413_1414delinsCG (p.Pro471=)
c.1020_1021delinsCG (p.Pro340=)
c.1482_1483delinsCG (p.Pro494=)
c.1416_1417delinsCG (p.Pro472=)
c.447_448delinsCG (p.Pro149=)
20g.63414180G>ACA9958411KCNQ2c.1485C>T (p.Pro495=)
c.1539C>T (p.Pro513=)
c.936C>T (p.Pro312=)
c.1446C>T (p.Pro482=)
c.1107C>T (p.Pro369=)
c.1455C>T (p.Pro485=)
c.1419C>T (p.Pro473=)
c.596C>T
c.147C>T (p.Pro49=)
c.1536C>T (p.Pro512=)
c.1509C>T (p.Pro503=)
c.1413C>T (p.Pro471=)
c.1020C>T (p.Pro340=)
c.1482C>T (p.Pro494=)
c.1416C>T (p.Pro472=)
c.447C>T (p.Pro149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.63414180G>CCA511203945KCNQ2c.1485C>G (p.Pro495=)
c.1539C>G (p.Pro513=)
c.936C>G (p.Pro312=)
c.1446C>G (p.Pro482=)
c.1107C>G (p.Pro369=)
c.1455C>G (p.Pro485=)
c.1419C>G (p.Pro473=)
c.596C>G
c.147C>G (p.Pro49=)
c.1536C>G (p.Pro512=)
c.1509C>G (p.Pro503=)
c.1413C>G (p.Pro471=)
c.1020C>G (p.Pro340=)
c.1482C>G (p.Pro494=)
c.1416C>G (p.Pro472=)
c.447C>G (p.Pro149=)
20g.63414180G=CA2374778334KCNQ2c.1485C= (p.Pro495=)
c.1539C= (p.Pro513=)
c.936C= (p.Pro312=)
c.1446C= (p.Pro482=)
c.1107C= (p.Pro369=)
c.1455C= (p.Pro485=)
c.1419C= (p.Pro473=)
c.596C=
c.147C= (p.Pro49=)
c.1536C= (p.Pro512=)
c.1509C= (p.Pro503=)
c.1413C= (p.Pro471=)
c.1020C= (p.Pro340=)
c.1482C= (p.Pro494=)
c.1416C= (p.Pro472=)
c.447C= (p.Pro149=)
20g.63414180G>TCA511203946KCNQ2c.1485C>A (p.Pro495=)
c.1539C>A (p.Pro513=)
c.936C>A (p.Pro312=)
c.1446C>A (p.Pro482=)
c.1107C>A (p.Pro369=)
c.1455C>A (p.Pro485=)
c.1419C>A (p.Pro473=)
c.596C>A
c.147C>A (p.Pro49=)
c.1536C>A (p.Pro512=)
c.1509C>A (p.Pro503=)
c.1413C>A (p.Pro471=)
c.1020C>A (p.Pro340=)
c.1482C>A (p.Pro494=)
c.1416C>A (p.Pro472=)
c.447C>A (p.Pro149=)
20g.63414183delCA16620963KCNQ2c.1485del (p.Gly496GlufsTer15)
c.1539del (p.Gly514GlufsTer15)
c.936del (p.Gly313GlufsTer15)
c.1446del (p.Gly483GlufsTer15)
c.1107del (p.Gly370GlufsTer15)
c.1455del (p.Gly486GlufsTer15)
c.1419del (p.Gly474GlufsTer15)
c.596del
c.147del (p.Gly50GlufsTer15)
c.1536del (p.Gly513GlufsTer15)
c.1509del (p.Gly504GlufsTer15)
c.1413del (p.Gly472GlufsTer15)
c.1020del (p.Gly341GlufsTer15)
c.1482del (p.Gly495GlufsTer15)
c.1416del (p.Gly473GlufsTer15)
c.447del (p.Gly150GlufsTer15)
 ClinVar dbSNP
20g.63414181G>ACA409645750KCNQ2c.1484C>T (p.Pro495Leu)
c.1538C>T (p.Pro513Leu)
c.935C>T (p.Pro312Leu)
c.1445C>T (p.Pro482Leu)
c.1106C>T (p.Pro369Leu)
c.1454C>T (p.Pro485Leu)
c.1418C>T (p.Pro473Leu)
c.595C>T
c.146C>T (p.Pro49Leu)
c.1535C>T (p.Pro512Leu)
c.1508C>T (p.Pro503Leu)
c.1412C>T (p.Pro471Leu)
c.1019C>T (p.Pro340Leu)
c.1481C>T (p.Pro494Leu)
c.1415C>T (p.Pro472Leu)
c.446C>T (p.Pro149Leu)
20g.63414181G>CCA409645752KCNQ2c.1484C>G (p.Pro495Arg)
c.1538C>G (p.Pro513Arg)
c.935C>G (p.Pro312Arg)
c.1445C>G (p.Pro482Arg)
c.1106C>G (p.Pro369Arg)
c.1454C>G (p.Pro485Arg)
c.1418C>G (p.Pro473Arg)
c.595C>G
c.146C>G (p.Pro49Arg)
c.1535C>G (p.Pro512Arg)
c.1508C>G (p.Pro503Arg)
c.1412C>G (p.Pro471Arg)
c.1019C>G (p.Pro340Arg)
c.1481C>G (p.Pro494Arg)
c.1415C>G (p.Pro472Arg)
c.446C>G (p.Pro149Arg)
20g.63414181G>TCA409645755KCNQ2c.1484C>A (p.Pro495His)
c.1538C>A (p.Pro513His)
c.935C>A (p.Pro312His)
c.1445C>A (p.Pro482His)
c.1106C>A (p.Pro369His)
c.1454C>A (p.Pro485His)
c.1418C>A (p.Pro473His)
c.595C>A
c.146C>A (p.Pro49His)
c.1535C>A (p.Pro512His)
c.1508C>A (p.Pro503His)
c.1412C>A (p.Pro471His)
c.1019C>A (p.Pro340His)
c.1481C>A (p.Pro494His)
c.1415C>A (p.Pro472His)
c.446C>A (p.Pro149His)
20g.63414182G>ACA409645757KCNQ2c.1483C>T (p.Pro495Ser)
c.1537C>T (p.Pro513Ser)
c.934C>T (p.Pro312Ser)
c.1444C>T (p.Pro482Ser)
c.1105C>T (p.Pro369Ser)
c.1453C>T (p.Pro485Ser)
c.1417C>T (p.Pro473Ser)
c.594C>T
c.145C>T (p.Pro49Ser)
c.1534C>T (p.Pro512Ser)
c.1507C>T (p.Pro503Ser)
c.1411C>T (p.Pro471Ser)
c.1018C>T (p.Pro340Ser)
c.1480C>T (p.Pro494Ser)
c.1414C>T (p.Pro472Ser)
c.445C>T (p.Pro149Ser)
 COSMIC COSMIC COSMIC
20g.63414182G>CCA409645761KCNQ2c.1483C>G (p.Pro495Ala)
c.1537C>G (p.Pro513Ala)
c.934C>G (p.Pro312Ala)
c.1444C>G (p.Pro482Ala)
c.1105C>G (p.Pro369Ala)
c.1453C>G (p.Pro485Ala)
c.1417C>G (p.Pro473Ala)
c.594C>G
c.145C>G (p.Pro49Ala)
c.1534C>G (p.Pro512Ala)
c.1507C>G (p.Pro503Ala)
c.1411C>G (p.Pro471Ala)
c.1018C>G (p.Pro340Ala)
c.1480C>G (p.Pro494Ala)
c.1414C>G (p.Pro472Ala)
c.445C>G (p.Pro149Ala)
20g.63414182G>TCA409645764KCNQ2c.1483C>A (p.Pro495Thr)
c.1537C>A (p.Pro513Thr)
c.934C>A (p.Pro312Thr)
c.1444C>A (p.Pro482Thr)
c.1105C>A (p.Pro369Thr)
c.1453C>A (p.Pro485Thr)
c.1417C>A (p.Pro473Thr)
c.594C>A
c.145C>A (p.Pro49Thr)
c.1534C>A (p.Pro512Thr)
c.1507C>A (p.Pro503Thr)
c.1411C>A (p.Pro471Thr)
c.1018C>A (p.Pro340Thr)
c.1480C>A (p.Pro494Thr)
c.1414C>A (p.Pro472Thr)
c.445C>A (p.Pro149Thr)
20g.63414182_63414183delinsATCA2695230079KCNQ2c.1482_1483delinsAT (p.Pro495Ser)
c.1536_1537delinsAT (p.Pro513Ser)
c.933_934delinsAT (p.Pro312Ser)
c.1443_1444delinsAT (p.Pro482Ser)
c.1104_1105delinsAT (p.Pro369Ser)
c.1452_1453delinsAT (p.Pro485Ser)
c.1416_1417delinsAT (p.Pro473Ser)
c.593_594delinsAT
c.144_145delinsAT (p.Pro49Ser)
c.1533_1534delinsAT (p.Pro512Ser)
c.1506_1507delinsAT (p.Pro503Ser)
c.1410_1411delinsAT (p.Pro471Ser)
c.1017_1018delinsAT (p.Pro340Ser)
c.1479_1480delinsAT (p.Pro494Ser)
c.1413_1414delinsAT (p.Pro472Ser)
c.444_445delinsAT (p.Pro149Ser)
20g.63414183G>ACA511203947KCNQ2c.1482C>T (p.Leu494=)
c.1536C>T (p.Leu512=)
c.933C>T (p.Leu311=)
c.1443C>T (p.Leu481=)
c.1104C>T (p.Leu368=)
c.1452C>T (p.Leu484=)
c.1416C>T (p.Leu472=)
c.593C>T
c.144C>T (p.Leu48=)
c.1533C>T (p.Leu511=)
c.1506C>T (p.Leu502=)
c.1410C>T (p.Leu470=)
c.1017C>T (p.Leu339=)
c.1479C>T (p.Leu493=)
c.1413C>T (p.Leu471=)
c.444C>T (p.Leu148=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414183G>CCA511203949KCNQ2c.1482C>G (p.Leu494=)
c.1536C>G (p.Leu512=)
c.933C>G (p.Leu311=)
c.1443C>G (p.Leu481=)
c.1104C>G (p.Leu368=)
c.1452C>G (p.Leu484=)
c.1416C>G (p.Leu472=)
c.593C>G
c.144C>G (p.Leu48=)
c.1533C>G (p.Leu511=)
c.1506C>G (p.Leu502=)
c.1410C>G (p.Leu470=)
c.1017C>G (p.Leu339=)
c.1479C>G (p.Leu493=)
c.1413C>G (p.Leu471=)
c.444C>G (p.Leu148=)
 dbSNP gnomAD v4
20g.63414183G=CA2374778335KCNQ2c.1482C= (p.Leu494=)
c.1536C= (p.Leu512=)
c.933C= (p.Leu311=)
c.1443C= (p.Leu481=)
c.1104C= (p.Leu368=)
c.1452C= (p.Leu484=)
c.1416C= (p.Leu472=)
c.593C=
c.144C= (p.Leu48=)
c.1533C= (p.Leu511=)
c.1506C= (p.Leu502=)
c.1410C= (p.Leu470=)
c.1017C= (p.Leu339=)
c.1479C= (p.Leu493=)
c.1413C= (p.Leu471=)
c.444C= (p.Leu148=)
20g.63414183G>TCA511203948KCNQ2c.1482C>A (p.Leu494=)
c.1536C>A (p.Leu512=)
c.933C>A (p.Leu311=)
c.1443C>A (p.Leu481=)
c.1104C>A (p.Leu368=)
c.1452C>A (p.Leu484=)
c.1416C>A (p.Leu472=)
c.593C>A
c.144C>A (p.Leu48=)
c.1533C>A (p.Leu511=)
c.1506C>A (p.Leu502=)
c.1410C>A (p.Leu470=)
c.1017C>A (p.Leu339=)
c.1479C>A (p.Leu493=)
c.1413C>A (p.Leu471=)
c.444C>A (p.Leu148=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63414184A>CCA409645773KCNQ2c.1481T>G (p.Leu494Arg)
c.1535T>G (p.Leu512Arg)
c.932T>G (p.Leu311Arg)
c.1442T>G (p.Leu481Arg)
c.1103T>G (p.Leu368Arg)
c.1451T>G (p.Leu484Arg)
c.1415T>G (p.Leu472Arg)
c.592T>G
c.143T>G (p.Leu48Arg)
c.1532T>G (p.Leu511Arg)
c.1505T>G (p.Leu502Arg)
c.1409T>G (p.Leu470Arg)
c.1016T>G (p.Leu339Arg)
c.1478T>G (p.Leu493Arg)
c.1412T>G (p.Leu471Arg)
c.443T>G (p.Leu148Arg)
20g.63414184A>GCA409645771KCNQ2c.1481T>C (p.Leu494Pro)
c.1535T>C (p.Leu512Pro)
c.932T>C (p.Leu311Pro)
c.1442T>C (p.Leu481Pro)
c.1103T>C (p.Leu368Pro)
c.1451T>C (p.Leu484Pro)
c.1415T>C (p.Leu472Pro)
c.592T>C
c.143T>C (p.Leu48Pro)
c.1532T>C (p.Leu511Pro)
c.1505T>C (p.Leu502Pro)
c.1409T>C (p.Leu470Pro)
c.1016T>C (p.Leu339Pro)
c.1478T>C (p.Leu493Pro)
c.1412T>C (p.Leu471Pro)
c.443T>C (p.Leu148Pro)
20g.63414184A>TCA409645768KCNQ2c.1481T>A (p.Leu494His)
c.1535T>A (p.Leu512His)
c.932T>A (p.Leu311His)
c.1442T>A (p.Leu481His)
c.1103T>A (p.Leu368His)
c.1451T>A (p.Leu484His)
c.1415T>A (p.Leu472His)
c.592T>A
c.143T>A (p.Leu48His)
c.1532T>A (p.Leu511His)
c.1505T>A (p.Leu502His)
c.1409T>A (p.Leu470His)
c.1016T>A (p.Leu339His)
c.1478T>A (p.Leu493His)
c.1412T>A (p.Leu471His)
c.443T>A (p.Leu148His)
20g.63414185G>ACA409645777KCNQ2c.1480C>T (p.Leu494Phe)
c.1534C>T (p.Leu512Phe)
c.931C>T (p.Leu311Phe)
c.1441C>T (p.Leu481Phe)
c.1102C>T (p.Leu368Phe)
c.1450C>T (p.Leu484Phe)
c.1414C>T (p.Leu472Phe)
c.591C>T
c.142C>T (p.Leu48Phe)
c.1531C>T (p.Leu511Phe)
c.1504C>T (p.Leu502Phe)
c.1408C>T (p.Leu470Phe)
c.1015C>T (p.Leu339Phe)
c.1477C>T (p.Leu493Phe)
c.1411C>T (p.Leu471Phe)
c.442C>T (p.Leu148Phe)
 ClinVar dbSNP
20g.63414185G>CCA409645784KCNQ2c.1480C>G (p.Leu494Val)
c.1534C>G (p.Leu512Val)
c.931C>G (p.Leu311Val)
c.1441C>G (p.Leu481Val)
c.1102C>G (p.Leu368Val)
c.1450C>G (p.Leu484Val)
c.1414C>G (p.Leu472Val)
c.591C>G
c.142C>G (p.Leu48Val)
c.1531C>G (p.Leu511Val)
c.1504C>G (p.Leu502Val)
c.1408C>G (p.Leu470Val)
c.1015C>G (p.Leu339Val)
c.1477C>G (p.Leu493Val)
c.1411C>G (p.Leu471Val)
c.442C>G (p.Leu148Val)
20g.63414185G=CA2374778336KCNQ2c.1480C= (p.Leu494=)
c.1534C= (p.Leu512=)
c.931C= (p.Leu311=)
c.1441C= (p.Leu481=)
c.1102C= (p.Leu368=)
c.1450C= (p.Leu484=)
c.1414C= (p.Leu472=)
c.591C=
c.142C= (p.Leu48=)
c.1531C= (p.Leu511=)
c.1504C= (p.Leu502=)
c.1408C= (p.Leu470=)
c.1015C= (p.Leu339=)
c.1477C= (p.Leu493=)
c.1411C= (p.Leu471=)
c.442C= (p.Leu148=)
20g.63414185G>TCA409645781KCNQ2c.1480C>A (p.Leu494Ile)
c.1534C>A (p.Leu512Ile)
c.931C>A (p.Leu311Ile)
c.1441C>A (p.Leu481Ile)
c.1102C>A (p.Leu368Ile)
c.1450C>A (p.Leu484Ile)
c.1414C>A (p.Leu472Ile)
c.591C>A
c.142C>A (p.Leu48Ile)
c.1531C>A (p.Leu511Ile)
c.1504C>A (p.Leu502Ile)
c.1408C>A (p.Leu470Ile)
c.1015C>A (p.Leu339Ile)
c.1477C>A (p.Leu493Ile)
c.1411C>A (p.Leu471Ile)
c.442C>A (p.Leu148Ile)
 gnomAD v4
20g.63414186delCA2580098397KCNQ2c.1480del (p.Leu494SerfsTer17)
c.1534del (p.Leu512SerfsTer17)
c.931del (p.Leu311SerfsTer17)
c.1441del (p.Leu481SerfsTer17)
c.1102del (p.Leu368SerfsTer17)
c.1450del (p.Leu484SerfsTer17)
c.1414del (p.Leu472SerfsTer17)
c.591del
c.142del (p.Leu48SerfsTer17)
c.1531del (p.Leu511SerfsTer17)
c.1504del (p.Leu502SerfsTer17)
c.1408del (p.Leu470SerfsTer17)
c.1015del (p.Leu339SerfsTer17)
c.1477del (p.Leu493SerfsTer17)
c.1411del (p.Leu471SerfsTer17)
c.442del (p.Leu148SerfsTer17)
 ClinVar
20g.63414186G>ACA511203951KCNQ2c.1479C>T (p.Ser493=)
c.1533C>T (p.Ser511=)
c.930C>T (p.Ser310=)
c.1440C>T (p.Ser480=)
c.1101C>T (p.Ser367=)
c.1449C>T (p.Ser483=)
c.1413C>T (p.Ser471=)
c.590C>T
c.141C>T (p.Ser47=)
c.1530C>T (p.Ser510=)
c.1503C>T (p.Ser501=)
c.1407C>T (p.Ser469=)
c.1014C>T (p.Ser338=)
c.1476C>T (p.Ser492=)
c.1410C>T (p.Ser470=)
c.441C>T (p.Ser147=)
 gnomAD v4
20g.63414186G>CCA409645788KCNQ2c.1479C>G (p.Ser493Arg)
c.1533C>G (p.Ser511Arg)
c.930C>G (p.Ser310Arg)
c.1440C>G (p.Ser480Arg)
c.1101C>G (p.Ser367Arg)
c.1449C>G (p.Ser483Arg)
c.1413C>G (p.Ser471Arg)
c.590C>G
c.141C>G (p.Ser47Arg)
c.1530C>G (p.Ser510Arg)
c.1503C>G (p.Ser501Arg)
c.1407C>G (p.Ser469Arg)
c.1014C>G (p.Ser338Arg)
c.1476C>G (p.Ser492Arg)
c.1410C>G (p.Ser470Arg)
c.441C>G (p.Ser147Arg)
20g.63414186G>TCA409645795KCNQ2c.1479C>A (p.Ser493Arg)
c.1533C>A (p.Ser511Arg)
c.930C>A (p.Ser310Arg)
c.1440C>A (p.Ser480Arg)
c.1101C>A (p.Ser367Arg)
c.1449C>A (p.Ser483Arg)
c.1413C>A (p.Ser471Arg)
c.590C>A
c.141C>A (p.Ser47Arg)
c.1530C>A (p.Ser510Arg)
c.1503C>A (p.Ser501Arg)
c.1407C>A (p.Ser469Arg)
c.1014C>A (p.Ser338Arg)
c.1476C>A (p.Ser492Arg)
c.1410C>A (p.Ser470Arg)
c.441C>A (p.Ser147Arg)
20g.63414187C>ACA409645802KCNQ2c.1478G>T (p.Ser493Ile)
c.1532G>T (p.Ser511Ile)
c.929G>T (p.Ser310Ile)
c.1439G>T (p.Ser480Ile)
c.1100G>T (p.Ser367Ile)
c.1448G>T (p.Ser483Ile)
c.1412G>T (p.Ser471Ile)
c.589G>T
c.140G>T (p.Ser47Ile)
c.1529G>T (p.Ser510Ile)
c.1502G>T (p.Ser501Ile)
c.1406G>T (p.Ser469Ile)
c.1013G>T (p.Ser338Ile)
c.1475G>T (p.Ser492Ile)
c.1409G>T (p.Ser470Ile)
c.440G>T (p.Ser147Ile)
20g.63414187C>GCA409645808KCNQ2c.1478G>C (p.Ser493Thr)
c.1532G>C (p.Ser511Thr)
c.929G>C (p.Ser310Thr)
c.1439G>C (p.Ser480Thr)
c.1100G>C (p.Ser367Thr)
c.1448G>C (p.Ser483Thr)
c.1412G>C (p.Ser471Thr)
c.589G>C
c.140G>C (p.Ser47Thr)
c.1529G>C (p.Ser510Thr)
c.1502G>C (p.Ser501Thr)
c.1406G>C (p.Ser469Thr)
c.1013G>C (p.Ser338Thr)
c.1475G>C (p.Ser492Thr)
c.1409G>C (p.Ser470Thr)
c.440G>C (p.Ser147Thr)
20g.63414187C>TCA409645805KCNQ2c.1478G>A (p.Ser493Asn)
c.1532G>A (p.Ser511Asn)
c.929G>A (p.Ser310Asn)
c.1439G>A (p.Ser480Asn)
c.1100G>A (p.Ser367Asn)
c.1448G>A (p.Ser483Asn)
c.1412G>A (p.Ser471Asn)
c.589G>A
c.140G>A (p.Ser47Asn)
c.1529G>A (p.Ser510Asn)
c.1502G>A (p.Ser501Asn)
c.1406G>A (p.Ser469Asn)
c.1013G>A (p.Ser338Asn)
c.1475G>A (p.Ser492Asn)
c.1409G>A (p.Ser470Asn)
c.440G>A (p.Ser147Asn)
20g.63414187dupCA2697547457KCNQ2c.1478dup (p.Ser493ArgfsTer10)
c.1532dup (p.Ser511ArgfsTer10)
c.929dup (p.Ser310ArgfsTer10)
c.1439dup (p.Ser480ArgfsTer10)
c.1100dup (p.Ser367ArgfsTer10)
c.1448dup (p.Ser483ArgfsTer10)
c.1412dup (p.Ser471ArgfsTer10)
c.589dup
c.140dup (p.Ser47ArgfsTer10)
c.1529dup (p.Ser510ArgfsTer10)
c.1502dup (p.Ser501ArgfsTer10)
c.1406dup (p.Ser469ArgfsTer10)
c.1013dup (p.Ser338ArgfsTer10)
c.1475dup (p.Ser492ArgfsTer10)
c.1409dup (p.Ser470ArgfsTer10)
c.440dup (p.Ser147ArgfsTer10)
 ClinVar

Number of alleles fetched