Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63413478G>ACA511340006KCNQ2c.1681C>T (p.Leu561=)
c.1735C>T (p.Leu579=)
c.1132C>T (p.Leu378=)
c.1642C>T (p.Leu548=)
c.1303C>T (p.Leu435=)
c.1651C>T (p.Leu551=)
c.1615C>T (p.Leu539=)
c.343C>T (p.Leu115=)
c.1732C>T (p.Leu578=)
c.1705C>T (p.Leu569=)
c.1609C>T (p.Leu537=)
c.1216C>T (p.Leu406=)
c.1678C>T (p.Leu560=)
c.1612C>T (p.Leu538=)
c.643C>T (p.Leu215=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63413478G>CCA409643441KCNQ2c.1681C>G (p.Leu561Val)
c.1735C>G (p.Leu579Val)
c.1132C>G (p.Leu378Val)
c.1642C>G (p.Leu548Val)
c.1303C>G (p.Leu435Val)
c.1651C>G (p.Leu551Val)
c.1615C>G (p.Leu539Val)
c.343C>G (p.Leu115Val)
c.1732C>G (p.Leu578Val)
c.1705C>G (p.Leu569Val)
c.1609C>G (p.Leu537Val)
c.1216C>G (p.Leu406Val)
c.1678C>G (p.Leu560Val)
c.1612C>G (p.Leu538Val)
c.643C>G (p.Leu215Val)
 ClinVar
20g.63413478G=CA2374777952KCNQ2c.1681C= (p.Leu561=)
c.1735C= (p.Leu579=)
c.1132C= (p.Leu378=)
c.1642C= (p.Leu548=)
c.1303C= (p.Leu435=)
c.1651C= (p.Leu551=)
c.1615C= (p.Leu539=)
c.343C= (p.Leu115=)
c.1732C= (p.Leu578=)
c.1705C= (p.Leu569=)
c.1609C= (p.Leu537=)
c.1216C= (p.Leu406=)
c.1678C= (p.Leu560=)
c.1612C= (p.Leu538=)
c.643C= (p.Leu215=)
20g.63413478G>TCA16609839KCNQ2c.1681C>A (p.Leu561Met)
c.1735C>A (p.Leu579Met)
c.1132C>A (p.Leu378Met)
c.1642C>A (p.Leu548Met)
c.1303C>A (p.Leu435Met)
c.1651C>A (p.Leu551Met)
c.1615C>A (p.Leu539Met)
c.343C>A (p.Leu115Met)
c.1732C>A (p.Leu578Met)
c.1705C>A (p.Leu569Met)
c.1609C>A (p.Leu537Met)
c.1216C>A (p.Leu406Met)
c.1678C>A (p.Leu560Met)
c.1612C>A (p.Leu538Met)
c.643C>A (p.Leu215Met)
 dbSNP
20g.63413478_63413479delinsGCCA2374777951KCNQ2c.1680_1681delinsGC (p.Met560=)
c.1734_1735delinsGC (p.Met578=)
c.1131_1132delinsGC (p.Met377=)
c.1641_1642delinsGC (p.Met547=)
c.1302_1303delinsGC (p.Met434=)
c.1650_1651delinsGC (p.Met550=)
c.1614_1615delinsGC (p.Met538=)
c.342_343delinsGC (p.Met114=)
c.1731_1732delinsGC (p.Met577=)
c.1704_1705delinsGC (p.Met568=)
c.1608_1609delinsGC (p.Met536=)
c.1215_1216delinsGC (p.Met405=)
c.1677_1678delinsGC (p.Met559=)
c.1611_1612delinsGC (p.Met537=)
c.642_643delinsGC (p.Met214=)
20g.63413478_63413479delinsTTCA315548KCNQ2c.1680_1681delinsAA (p.Met560_Leu561delinsIleMet)
c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet)
c.1131_1132delinsAA (p.Met377_Leu378delinsIleMet)
c.1641_1642delinsAA (p.Met547_Leu548delinsIleMet)
c.1302_1303delinsAA (p.Met434_Leu435delinsIleMet)
c.1650_1651delinsAA (p.Met550_Leu551delinsIleMet)
c.1614_1615delinsAA (p.Met538_Leu539delinsIleMet)
c.342_343delinsAA (p.Met114_Leu115delinsIleMet)
c.1731_1732delinsAA (p.Met577_Leu578delinsIleMet)
c.1704_1705delinsAA (p.Met568_Leu569delinsIleMet)
c.1608_1609delinsAA (p.Met536_Leu537delinsIleMet)
c.1215_1216delinsAA (p.Met405_Leu406delinsIleMet)
c.1677_1678delinsAA (p.Met559_Leu560delinsIleMet)
c.1611_1612delinsAA (p.Met537_Leu538delinsIleMet)
c.642_643delinsAA (p.Met214_Leu215delinsIleMet)
 ClinVar dbSNP
20g.63413479C>ACA409643447KCNQ2c.1680G>T (p.Met560Ile)
c.1734G>T (p.Met578Ile)
c.1131G>T (p.Met377Ile)
c.1641G>T (p.Met547Ile)
c.1302G>T (p.Met434Ile)
c.1650G>T (p.Met550Ile)
c.1614G>T (p.Met538Ile)
c.342G>T (p.Met114Ile)
c.1731G>T (p.Met577Ile)
c.1704G>T (p.Met568Ile)
c.1608G>T (p.Met536Ile)
c.1215G>T (p.Met405Ile)
c.1677G>T (p.Met559Ile)
c.1611G>T (p.Met537Ile)
c.642G>T (p.Met214Ile)
20g.63413479C=CA2374777953KCNQ2c.1680G= (p.Met560=)
c.1734G= (p.Met578=)
c.1131G= (p.Met377=)
c.1641G= (p.Met547=)
c.1302G= (p.Met434=)
c.1650G= (p.Met550=)
c.1614G= (p.Met538=)
c.342G= (p.Met114=)
c.1731G= (p.Met577=)
c.1704G= (p.Met568=)
c.1608G= (p.Met536=)
c.1215G= (p.Met405=)
c.1677G= (p.Met559=)
c.1611G= (p.Met537=)
c.642G= (p.Met214=)
20g.63413479C>GCA315483KCNQ2c.1680G>C (p.Met560Ile)
c.1734G>C (p.Met578Ile)
c.1131G>C (p.Met377Ile)
c.1641G>C (p.Met547Ile)
c.1302G>C (p.Met434Ile)
c.1650G>C (p.Met550Ile)
c.1614G>C (p.Met538Ile)
c.342G>C (p.Met114Ile)
c.1731G>C (p.Met577Ile)
c.1704G>C (p.Met568Ile)
c.1608G>C (p.Met536Ile)
c.1215G>C (p.Met405Ile)
c.1677G>C (p.Met559Ile)
c.1611G>C (p.Met537Ile)
c.642G>C (p.Met214Ile)
 ClinVar dbSNP
20g.63413479C>TCA16609838KCNQ2c.1680G>A (p.Met560Ile)
c.1734G>A (p.Met578Ile)
c.1131G>A (p.Met377Ile)
c.1641G>A (p.Met547Ile)
c.1302G>A (p.Met434Ile)
c.1650G>A (p.Met550Ile)
c.1614G>A (p.Met538Ile)
c.342G>A (p.Met114Ile)
c.1731G>A (p.Met577Ile)
c.1704G>A (p.Met568Ile)
c.1608G>A (p.Met536Ile)
c.1215G>A (p.Met405Ile)
c.1677G>A (p.Met559Ile)
c.1611G>A (p.Met537Ile)
c.642G>A (p.Met214Ile)
 ClinVar dbSNP
20g.63413481_63413486dupCA915952964KCNQ2c.1675_1680dup (p.Met560_Leu561insAspMet)
c.1729_1734dup (p.Met578_Leu579insAspMet)
c.1126_1131dup (p.Met377_Leu378insAspMet)
c.1636_1641dup (p.Met547_Leu548insAspMet)
c.1297_1302dup (p.Met434_Leu435insAspMet)
c.1645_1650dup (p.Met550_Leu551insAspMet)
c.1609_1614dup (p.Met538_Leu539insAspMet)
c.337_342dup (p.Met114_Leu115insAspMet)
c.1726_1731dup (p.Met577_Leu578insAspMet)
c.1699_1704dup (p.Met568_Leu569insAspMet)
c.1603_1608dup (p.Met536_Leu537insAspMet)
c.1210_1215dup (p.Met405_Leu406insAspMet)
c.1672_1677dup (p.Met559_Leu560insAspMet)
c.1606_1611dup (p.Met537_Leu538insAspMet)
c.637_642dup (p.Met214_Leu215insAspMet)
 ClinVar dbSNP
20g.63413480A=CA2374777954KCNQ2c.1679T= (p.Met560=)
c.1733T= (p.Met578=)
c.1130T= (p.Met377=)
c.1640T= (p.Met547=)
c.1301T= (p.Met434=)
c.1649T= (p.Met550=)
c.1613T= (p.Met538=)
c.341T= (p.Met114=)
c.1730T= (p.Met577=)
c.1703T= (p.Met568=)
c.1607T= (p.Met536=)
c.1214T= (p.Met405=)
c.1676T= (p.Met559=)
c.1610T= (p.Met537=)
c.641T= (p.Met214=)
20g.63413480A>CCA409643452KCNQ2c.1679T>G (p.Met560Arg)
c.1733T>G (p.Met578Arg)
c.1130T>G (p.Met377Arg)
c.1640T>G (p.Met547Arg)
c.1301T>G (p.Met434Arg)
c.1649T>G (p.Met550Arg)
c.1613T>G (p.Met538Arg)
c.341T>G (p.Met114Arg)
c.1730T>G (p.Met577Arg)
c.1703T>G (p.Met568Arg)
c.1607T>G (p.Met536Arg)
c.1214T>G (p.Met405Arg)
c.1676T>G (p.Met559Arg)
c.1610T>G (p.Met537Arg)
c.641T>G (p.Met214Arg)
20g.63413480A>GCA409643455KCNQ2c.1679T>C (p.Met560Thr)
c.1733T>C (p.Met578Thr)
c.1130T>C (p.Met377Thr)
c.1640T>C (p.Met547Thr)
c.1301T>C (p.Met434Thr)
c.1649T>C (p.Met550Thr)
c.1613T>C (p.Met538Thr)
c.341T>C (p.Met114Thr)
c.1730T>C (p.Met577Thr)
c.1703T>C (p.Met568Thr)
c.1607T>C (p.Met536Thr)
c.1214T>C (p.Met405Thr)
c.1676T>C (p.Met559Thr)
c.1610T>C (p.Met537Thr)
c.641T>C (p.Met214Thr)
 ClinVar dbSNP
20g.63413480A>TCA409643456KCNQ2c.1679T>A (p.Met560Lys)
c.1733T>A (p.Met578Lys)
c.1130T>A (p.Met377Lys)
c.1640T>A (p.Met547Lys)
c.1301T>A (p.Met434Lys)
c.1649T>A (p.Met550Lys)
c.1613T>A (p.Met538Lys)
c.341T>A (p.Met114Lys)
c.1730T>A (p.Met577Lys)
c.1703T>A (p.Met568Lys)
c.1607T>A (p.Met536Lys)
c.1214T>A (p.Met405Lys)
c.1676T>A (p.Met559Lys)
c.1610T>A (p.Met537Lys)
c.641T>A (p.Met214Lys)
20g.63413481T>ACA409643457KCNQ2c.1678A>T (p.Met560Leu)
c.1732A>T (p.Met578Leu)
c.1129A>T (p.Met377Leu)
c.1639A>T (p.Met547Leu)
c.1300A>T (p.Met434Leu)
c.1648A>T (p.Met550Leu)
c.1612A>T (p.Met538Leu)
c.340A>T (p.Met114Leu)
c.1729A>T (p.Met577Leu)
c.1702A>T (p.Met568Leu)
c.1606A>T (p.Met536Leu)
c.1213A>T (p.Met405Leu)
c.1675A>T (p.Met559Leu)
c.1609A>T (p.Met537Leu)
c.640A>T (p.Met214Leu)
20g.63413481T>CCA10654781KCNQ2c.1678A>G (p.Met560Val)
c.1732A>G (p.Met578Val)
c.1129A>G (p.Met377Val)
c.1639A>G (p.Met547Val)
c.1300A>G (p.Met434Val)
c.1648A>G (p.Met550Val)
c.1612A>G (p.Met538Val)
c.340A>G (p.Met114Val)
c.1729A>G (p.Met577Val)
c.1702A>G (p.Met568Val)
c.1606A>G (p.Met536Val)
c.1213A>G (p.Met405Val)
c.1675A>G (p.Met559Val)
c.1609A>G (p.Met537Val)
c.640A>G (p.Met214Val)
 ClinVar dbSNP gnomAD v4
20g.63413481T>GCA409643458KCNQ2c.1678A>C (p.Met560Leu)
c.1732A>C (p.Met578Leu)
c.1129A>C (p.Met377Leu)
c.1639A>C (p.Met547Leu)
c.1300A>C (p.Met434Leu)
c.1648A>C (p.Met550Leu)
c.1612A>C (p.Met538Leu)
c.340A>C (p.Met114Leu)
c.1729A>C (p.Met577Leu)
c.1702A>C (p.Met568Leu)
c.1606A>C (p.Met536Leu)
c.1213A>C (p.Met405Leu)
c.1675A>C (p.Met559Leu)
c.1609A>C (p.Met537Leu)
c.640A>C (p.Met214Leu)
 ClinVar dbSNP
20g.63413481T=CA2374777955KCNQ2c.1678A= (p.Met560=)
c.1732A= (p.Met578=)
c.1129A= (p.Met377=)
c.1639A= (p.Met547=)
c.1300A= (p.Met434=)
c.1648A= (p.Met550=)
c.1612A= (p.Met538=)
c.340A= (p.Met114=)
c.1729A= (p.Met577=)
c.1702A= (p.Met568=)
c.1606A= (p.Met536=)
c.1213A= (p.Met405=)
c.1675A= (p.Met559=)
c.1609A= (p.Met537=)
c.640A= (p.Met214=)
20g.63413482G>ACA511340013KCNQ2c.1677C>T (p.Asp559=)
c.1731C>T (p.Asp577=)
c.1128C>T (p.Asp376=)
c.1638C>T (p.Asp546=)
c.1299C>T (p.Asp433=)
c.1647C>T (p.Asp549=)
c.1611C>T (p.Asp537=)
c.339C>T (p.Asp113=)
c.1728C>T (p.Asp576=)
c.1701C>T (p.Asp567=)
c.1605C>T (p.Asp535=)
c.1212C>T (p.Asp404=)
c.1674C>T (p.Asp558=)
c.1608C>T (p.Asp536=)
c.639C>T (p.Asp213=)
 gnomAD v4
20g.63413482G>CCA409643464KCNQ2c.1677C>G (p.Asp559Glu)
c.1731C>G (p.Asp577Glu)
c.1128C>G (p.Asp376Glu)
c.1638C>G (p.Asp546Glu)
c.1299C>G (p.Asp433Glu)
c.1647C>G (p.Asp549Glu)
c.1611C>G (p.Asp537Glu)
c.339C>G (p.Asp113Glu)
c.1728C>G (p.Asp576Glu)
c.1701C>G (p.Asp567Glu)
c.1605C>G (p.Asp535Glu)
c.1212C>G (p.Asp404Glu)
c.1674C>G (p.Asp558Glu)
c.1608C>G (p.Asp536Glu)
c.639C>G (p.Asp213Glu)
20g.63413482G>TCA409643468KCNQ2c.1677C>A (p.Asp559Glu)
c.1731C>A (p.Asp577Glu)
c.1128C>A (p.Asp376Glu)
c.1638C>A (p.Asp546Glu)
c.1299C>A (p.Asp433Glu)
c.1647C>A (p.Asp549Glu)
c.1611C>A (p.Asp537Glu)
c.339C>A (p.Asp113Glu)
c.1728C>A (p.Asp576Glu)
c.1701C>A (p.Asp567Glu)
c.1605C>A (p.Asp535Glu)
c.1212C>A (p.Asp404Glu)
c.1674C>A (p.Asp558Glu)
c.1608C>A (p.Asp536Glu)
c.639C>A (p.Asp213Glu)
20g.63413483_63413487dupCA2739277252KCNQ2c.1673_1677dup (p.Met560TrpfsTer14)
c.1727_1731dup (p.Met578TrpfsTer?)
c.1124_1128dup (p.Met377TrpfsTer?)
c.1634_1638dup (p.Met547TrpfsTer?)
c.1295_1299dup (p.Met434TrpfsTer?)
c.1643_1647dup (p.Met550TrpfsTer?)
c.1643_1647dup (p.Met550TrpfsTer14)
c.1607_1611dup (p.Met538TrpfsTer14)
c.1673_1677dup (p.Met560TrpfsTer?)
c.335_339dup (p.Met114TrpfsTer?)
c.1727_1731dup (p.Met578TrpfsTer14)
c.1724_1728dup (p.Met577TrpfsTer14)
c.1697_1701dup (p.Met568TrpfsTer14)
c.1724_1728dup (p.Met577TrpfsTer?)
c.1601_1605dup (p.Met536TrpfsTer14)
c.1208_1212dup (p.Met405TrpfsTer14)
c.1670_1674dup (p.Met559TrpfsTer14)
c.1604_1608dup (p.Met537TrpfsTer14)
c.1670_1674dup (p.Met559TrpfsTer?)
c.635_639dup (p.Met214TrpfsTer14)
 ClinVar
20g.63413483T>ACA409643471KCNQ2c.1676A>T (p.Asp559Val)
c.1730A>T (p.Asp577Val)
c.1127A>T (p.Asp376Val)
c.1637A>T (p.Asp546Val)
c.1298A>T (p.Asp433Val)
c.1646A>T (p.Asp549Val)
c.1610A>T (p.Asp537Val)
c.338A>T (p.Asp113Val)
c.1727A>T (p.Asp576Val)
c.1700A>T (p.Asp567Val)
c.1604A>T (p.Asp535Val)
c.1211A>T (p.Asp404Val)
c.1673A>T (p.Asp558Val)
c.1607A>T (p.Asp536Val)
c.638A>T (p.Asp213Val)
20g.63413483T>CCA409643474KCNQ2c.1676A>G (p.Asp559Gly)
c.1730A>G (p.Asp577Gly)
c.1127A>G (p.Asp376Gly)
c.1637A>G (p.Asp546Gly)
c.1298A>G (p.Asp433Gly)
c.1646A>G (p.Asp549Gly)
c.1610A>G (p.Asp537Gly)
c.338A>G (p.Asp113Gly)
c.1727A>G (p.Asp576Gly)
c.1700A>G (p.Asp567Gly)
c.1604A>G (p.Asp535Gly)
c.1211A>G (p.Asp404Gly)
c.1673A>G (p.Asp558Gly)
c.1607A>G (p.Asp536Gly)
c.638A>G (p.Asp213Gly)
20g.63413483T>GCA409643476KCNQ2c.1676A>C (p.Asp559Ala)
c.1730A>C (p.Asp577Ala)
c.1127A>C (p.Asp376Ala)
c.1637A>C (p.Asp546Ala)
c.1298A>C (p.Asp433Ala)
c.1646A>C (p.Asp549Ala)
c.1610A>C (p.Asp537Ala)
c.338A>C (p.Asp113Ala)
c.1727A>C (p.Asp576Ala)
c.1700A>C (p.Asp567Ala)
c.1604A>C (p.Asp535Ala)
c.1211A>C (p.Asp404Ala)
c.1673A>C (p.Asp558Ala)
c.1607A>C (p.Asp536Ala)
c.638A>C (p.Asp213Ala)
20g.63413484C>ACA409643483KCNQ2c.1675G>T (p.Asp559Tyr)
c.1729G>T (p.Asp577Tyr)
c.1126G>T (p.Asp376Tyr)
c.1636G>T (p.Asp546Tyr)
c.1297G>T (p.Asp433Tyr)
c.1645G>T (p.Asp549Tyr)
c.1609G>T (p.Asp537Tyr)
c.337G>T (p.Asp113Tyr)
c.1726G>T (p.Asp576Tyr)
c.1699G>T (p.Asp567Tyr)
c.1603G>T (p.Asp535Tyr)
c.1210G>T (p.Asp404Tyr)
c.1672G>T (p.Asp558Tyr)
c.1606G>T (p.Asp536Tyr)
c.637G>T (p.Asp213Tyr)
20g.63413484C>GCA409643487KCNQ2c.1675G>C (p.Asp559His)
c.1729G>C (p.Asp577His)
c.1126G>C (p.Asp376His)
c.1636G>C (p.Asp546His)
c.1297G>C (p.Asp433His)
c.1645G>C (p.Asp549His)
c.1609G>C (p.Asp537His)
c.337G>C (p.Asp113His)
c.1726G>C (p.Asp576His)
c.1699G>C (p.Asp567His)
c.1603G>C (p.Asp535His)
c.1210G>C (p.Asp404His)
c.1672G>C (p.Asp558His)
c.1606G>C (p.Asp536His)
c.637G>C (p.Asp213His)
20g.63413484C>TCA409643488KCNQ2c.1675G>A (p.Asp559Asn)
c.1729G>A (p.Asp577Asn)
c.1126G>A (p.Asp376Asn)
c.1636G>A (p.Asp546Asn)
c.1297G>A (p.Asp433Asn)
c.1645G>A (p.Asp549Asn)
c.1609G>A (p.Asp537Asn)
c.337G>A (p.Asp113Asn)
c.1726G>A (p.Asp576Asn)
c.1699G>A (p.Asp567Asn)
c.1603G>A (p.Asp535Asn)
c.1210G>A (p.Asp404Asn)
c.1672G>A (p.Asp558Asn)
c.1606G>A (p.Asp536Asn)
c.637G>A (p.Asp213Asn)
20g.63413485C>ACA511340017KCNQ2c.1674G>T (p.Leu558=)
c.1728G>T (p.Leu576=)
c.1125G>T (p.Leu375=)
c.1635G>T (p.Leu545=)
c.1296G>T (p.Leu432=)
c.1644G>T (p.Leu548=)
c.1608G>T (p.Leu536=)
c.336G>T (p.Leu112=)
c.1725G>T (p.Leu575=)
c.1698G>T (p.Leu566=)
c.1602G>T (p.Leu534=)
c.1209G>T (p.Leu403=)
c.1671G>T (p.Leu557=)
c.1605G>T (p.Leu535=)
c.636G>T (p.Leu212=)
20g.63413485C>GCA511340015KCNQ2c.1674G>C (p.Leu558=)
c.1728G>C (p.Leu576=)
c.1125G>C (p.Leu375=)
c.1635G>C (p.Leu545=)
c.1296G>C (p.Leu432=)
c.1644G>C (p.Leu548=)
c.1608G>C (p.Leu536=)
c.336G>C (p.Leu112=)
c.1725G>C (p.Leu575=)
c.1698G>C (p.Leu566=)
c.1602G>C (p.Leu534=)
c.1209G>C (p.Leu403=)
c.1671G>C (p.Leu557=)
c.1605G>C (p.Leu535=)
c.636G>C (p.Leu212=)
20g.63413485C>TCA511340016KCNQ2c.1674G>A (p.Leu558=)
c.1728G>A (p.Leu576=)
c.1125G>A (p.Leu375=)
c.1635G>A (p.Leu545=)
c.1296G>A (p.Leu432=)
c.1644G>A (p.Leu548=)
c.1608G>A (p.Leu536=)
c.336G>A (p.Leu112=)
c.1725G>A (p.Leu575=)
c.1698G>A (p.Leu566=)
c.1602G>A (p.Leu534=)
c.1209G>A (p.Leu403=)
c.1671G>A (p.Leu557=)
c.1605G>A (p.Leu535=)
c.636G>A (p.Leu212=)
20g.63413486A>CCA409643489KCNQ2c.1673T>G (p.Leu558Arg)
c.1727T>G (p.Leu576Arg)
c.1124T>G (p.Leu375Arg)
c.1634T>G (p.Leu545Arg)
c.1295T>G (p.Leu432Arg)
c.1643T>G (p.Leu548Arg)
c.1607T>G (p.Leu536Arg)
c.335T>G (p.Leu112Arg)
c.1724T>G (p.Leu575Arg)
c.1697T>G (p.Leu566Arg)
c.1601T>G (p.Leu534Arg)
c.1208T>G (p.Leu403Arg)
c.1670T>G (p.Leu557Arg)
c.1604T>G (p.Leu535Arg)
c.635T>G (p.Leu212Arg)
 gnomAD v4
20g.63413486A>GCA409643490KCNQ2c.1673T>C (p.Leu558Pro)
c.1727T>C (p.Leu576Pro)
c.1124T>C (p.Leu375Pro)
c.1634T>C (p.Leu545Pro)
c.1295T>C (p.Leu432Pro)
c.1643T>C (p.Leu548Pro)
c.1607T>C (p.Leu536Pro)
c.335T>C (p.Leu112Pro)
c.1724T>C (p.Leu575Pro)
c.1697T>C (p.Leu566Pro)
c.1601T>C (p.Leu534Pro)
c.1208T>C (p.Leu403Pro)
c.1670T>C (p.Leu557Pro)
c.1604T>C (p.Leu535Pro)
c.635T>C (p.Leu212Pro)
20g.63413486A>TCA409643491KCNQ2c.1673T>A (p.Leu558Gln)
c.1727T>A (p.Leu576Gln)
c.1124T>A (p.Leu375Gln)
c.1634T>A (p.Leu545Gln)
c.1295T>A (p.Leu432Gln)
c.1643T>A (p.Leu548Gln)
c.1607T>A (p.Leu536Gln)
c.335T>A (p.Leu112Gln)
c.1724T>A (p.Leu575Gln)
c.1697T>A (p.Leu566Gln)
c.1601T>A (p.Leu534Gln)
c.1208T>A (p.Leu403Gln)
c.1670T>A (p.Leu557Gln)
c.1604T>A (p.Leu535Gln)
c.635T>A (p.Leu212Gln)
20g.63413486dupCA2653798324KCNQ2c.1673dup (p.Asp559GlyfsTer7)
c.1727dup (p.Asp577GlyfsTer7)
c.1124dup (p.Asp376GlyfsTer7)
c.1634dup (p.Asp546GlyfsTer7)
c.1295dup (p.Asp433GlyfsTer7)
c.1643dup (p.Asp549GlyfsTer7)
c.1607dup (p.Asp537GlyfsTer7)
c.335dup (p.Asp113GlyfsTer7)
c.1724dup (p.Asp576GlyfsTer7)
c.1697dup (p.Asp567GlyfsTer7)
c.1601dup (p.Asp535GlyfsTer7)
c.1208dup (p.Asp404GlyfsTer7)
c.1670dup (p.Asp558GlyfsTer7)
c.1604dup (p.Asp536GlyfsTer7)
c.635dup (p.Asp213GlyfsTer7)
 gnomAD v4
20g.63413487G>ACA9958323KCNQ2c.1672C>T (p.Leu558=)
c.1726C>T (p.Leu576=)
c.1123C>T (p.Leu375=)
c.1633C>T (p.Leu545=)
c.1294C>T (p.Leu432=)
c.1642C>T (p.Leu548=)
c.1606C>T (p.Leu536=)
c.334C>T (p.Leu112=)
c.1723C>T (p.Leu575=)
c.1696C>T (p.Leu566=)
c.1600C>T (p.Leu534=)
c.1207C>T (p.Leu403=)
c.1669C>T (p.Leu557=)
c.1603C>T (p.Leu535=)
c.634C>T (p.Leu212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63413487G>CCA409643497KCNQ2c.1672C>G (p.Leu558Val)
c.1726C>G (p.Leu576Val)
c.1123C>G (p.Leu375Val)
c.1633C>G (p.Leu545Val)
c.1294C>G (p.Leu432Val)
c.1642C>G (p.Leu548Val)
c.1606C>G (p.Leu536Val)
c.334C>G (p.Leu112Val)
c.1723C>G (p.Leu575Val)
c.1696C>G (p.Leu566Val)
c.1600C>G (p.Leu534Val)
c.1207C>G (p.Leu403Val)
c.1669C>G (p.Leu557Val)
c.1603C>G (p.Leu535Val)
c.634C>G (p.Leu212Val)
20g.63413487G=CA2374777956KCNQ2c.1672C= (p.Leu558=)
c.1726C= (p.Leu576=)
c.1123C= (p.Leu375=)
c.1633C= (p.Leu545=)
c.1294C= (p.Leu432=)
c.1642C= (p.Leu548=)
c.1606C= (p.Leu536=)
c.334C= (p.Leu112=)
c.1723C= (p.Leu575=)
c.1696C= (p.Leu566=)
c.1600C= (p.Leu534=)
c.1207C= (p.Leu403=)
c.1669C= (p.Leu557=)
c.1603C= (p.Leu535=)
c.634C= (p.Leu212=)
20g.63413487G>TCA409643500KCNQ2c.1672C>A (p.Leu558Met)
c.1726C>A (p.Leu576Met)
c.1123C>A (p.Leu375Met)
c.1633C>A (p.Leu545Met)
c.1294C>A (p.Leu432Met)
c.1642C>A (p.Leu548Met)
c.1606C>A (p.Leu536Met)
c.334C>A (p.Leu112Met)
c.1723C>A (p.Leu575Met)
c.1696C>A (p.Leu566Met)
c.1600C>A (p.Leu534Met)
c.1207C>A (p.Leu403Met)
c.1669C>A (p.Leu557Met)
c.1603C>A (p.Leu535Met)
c.634C>A (p.Leu212Met)
20g.63413489_63413495dupCA2697547454KCNQ2c.1666_1672dup (p.Leu558ArgfsTer10)
c.1720_1726dup (p.Leu576ArgfsTer10)
c.1117_1123dup (p.Leu375ArgfsTer10)
c.1627_1633dup (p.Leu545ArgfsTer10)
c.1288_1294dup (p.Leu432ArgfsTer10)
c.1636_1642dup (p.Leu548ArgfsTer10)
c.1600_1606dup (p.Leu536ArgfsTer10)
c.328_334dup (p.Leu112ArgfsTer10)
c.1717_1723dup (p.Leu575ArgfsTer10)
c.1690_1696dup (p.Leu566ArgfsTer10)
c.1594_1600dup (p.Leu534ArgfsTer10)
c.1201_1207dup (p.Leu403ArgfsTer10)
c.1663_1669dup (p.Leu557ArgfsTer10)
c.1597_1603dup (p.Leu535ArgfsTer10)
c.628_634dup (p.Leu212ArgfsTer10)
 ClinVar
20g.63413488G>ACA511340026KCNQ2c.1671C>T (p.His557=)
c.1725C>T (p.His575=)
c.1122C>T (p.His374=)
c.1632C>T (p.His544=)
c.1293C>T (p.His431=)
c.1641C>T (p.His547=)
c.1605C>T (p.His535=)
c.333C>T (p.His111=)
c.1722C>T (p.His574=)
c.1695C>T (p.His565=)
c.1599C>T (p.His533=)
c.1206C>T (p.His402=)
c.1668C>T (p.His556=)
c.1602C>T (p.His534=)
c.633C>T (p.His211=)
 ClinVar dbSNP gnomAD v4
20g.63413488G>CCA409643509KCNQ2c.1671C>G (p.His557Gln)
c.1725C>G (p.His575Gln)
c.1122C>G (p.His374Gln)
c.1632C>G (p.His544Gln)
c.1293C>G (p.His431Gln)
c.1641C>G (p.His547Gln)
c.1605C>G (p.His535Gln)
c.333C>G (p.His111Gln)
c.1722C>G (p.His574Gln)
c.1695C>G (p.His565Gln)
c.1599C>G (p.His533Gln)
c.1206C>G (p.His402Gln)
c.1668C>G (p.His556Gln)
c.1602C>G (p.His534Gln)
c.633C>G (p.His211Gln)
20g.63413488G=CA2374777957KCNQ2c.1671C= (p.His557=)
c.1725C= (p.His575=)
c.1122C= (p.His374=)
c.1632C= (p.His544=)
c.1293C= (p.His431=)
c.1641C= (p.His547=)
c.1605C= (p.His535=)
c.333C= (p.His111=)
c.1722C= (p.His574=)
c.1695C= (p.His565=)
c.1599C= (p.His533=)
c.1206C= (p.His402=)
c.1668C= (p.His556=)
c.1602C= (p.His534=)
c.633C= (p.His211=)
20g.63413488G>TCA409643506KCNQ2c.1671C>A (p.His557Gln)
c.1725C>A (p.His575Gln)
c.1122C>A (p.His374Gln)
c.1632C>A (p.His544Gln)
c.1293C>A (p.His431Gln)
c.1641C>A (p.His547Gln)
c.1605C>A (p.His535Gln)
c.333C>A (p.His111Gln)
c.1722C>A (p.His574Gln)
c.1695C>A (p.His565Gln)
c.1599C>A (p.His533Gln)
c.1206C>A (p.His402Gln)
c.1668C>A (p.His556Gln)
c.1602C>A (p.His534Gln)
c.633C>A (p.His211Gln)
20g.63413489T>ACA409643513KCNQ2c.1670A>T (p.His557Leu)
c.1724A>T (p.His575Leu)
c.1121A>T (p.His374Leu)
c.1631A>T (p.His544Leu)
c.1292A>T (p.His431Leu)
c.1640A>T (p.His547Leu)
c.1604A>T (p.His535Leu)
c.332A>T (p.His111Leu)
c.1721A>T (p.His574Leu)
c.1694A>T (p.His565Leu)
c.1598A>T (p.His533Leu)
c.1205A>T (p.His402Leu)
c.1667A>T (p.His556Leu)
c.1601A>T (p.His534Leu)
c.632A>T (p.His211Leu)
20g.63413489T>CCA409643515KCNQ2c.1670A>G (p.His557Arg)
c.1724A>G (p.His575Arg)
c.1121A>G (p.His374Arg)
c.1631A>G (p.His544Arg)
c.1292A>G (p.His431Arg)
c.1640A>G (p.His547Arg)
c.1604A>G (p.His535Arg)
c.332A>G (p.His111Arg)
c.1721A>G (p.His574Arg)
c.1694A>G (p.His565Arg)
c.1598A>G (p.His533Arg)
c.1205A>G (p.His402Arg)
c.1667A>G (p.His556Arg)
c.1601A>G (p.His534Arg)
c.632A>G (p.His211Arg)
20g.63413489T>GCA409643528KCNQ2c.1670A>C (p.His557Pro)
c.1724A>C (p.His575Pro)
c.1121A>C (p.His374Pro)
c.1631A>C (p.His544Pro)
c.1292A>C (p.His431Pro)
c.1640A>C (p.His547Pro)
c.1604A>C (p.His535Pro)
c.332A>C (p.His111Pro)
c.1721A>C (p.His574Pro)
c.1694A>C (p.His565Pro)
c.1598A>C (p.His533Pro)
c.1205A>C (p.His402Pro)
c.1667A>C (p.His556Pro)
c.1601A>C (p.His534Pro)
c.632A>C (p.His211Pro)
20g.63413490G>ACA409643532KCNQ2c.1669C>T (p.His557Tyr)
c.1723C>T (p.His575Tyr)
c.1120C>T (p.His374Tyr)
c.1630C>T (p.His544Tyr)
c.1291C>T (p.His431Tyr)
c.1639C>T (p.His547Tyr)
c.1603C>T (p.His535Tyr)
c.331C>T (p.His111Tyr)
c.1720C>T (p.His574Tyr)
c.1693C>T (p.His565Tyr)
c.1597C>T (p.His533Tyr)
c.1204C>T (p.His402Tyr)
c.1666C>T (p.His556Tyr)
c.1600C>T (p.His534Tyr)
c.631C>T (p.His211Tyr)
20g.63413490G>CCA409643535KCNQ2c.1669C>G (p.His557Asp)
c.1723C>G (p.His575Asp)
c.1120C>G (p.His374Asp)
c.1630C>G (p.His544Asp)
c.1291C>G (p.His431Asp)
c.1639C>G (p.His547Asp)
c.1603C>G (p.His535Asp)
c.331C>G (p.His111Asp)
c.1720C>G (p.His574Asp)
c.1693C>G (p.His565Asp)
c.1597C>G (p.His533Asp)
c.1204C>G (p.His402Asp)
c.1666C>G (p.His556Asp)
c.1600C>G (p.His534Asp)
c.631C>G (p.His211Asp)
20g.63413490G>TCA409643536KCNQ2c.1669C>A (p.His557Asn)
c.1723C>A (p.His575Asn)
c.1120C>A (p.His374Asn)
c.1630C>A (p.His544Asn)
c.1291C>A (p.His431Asn)
c.1639C>A (p.His547Asn)
c.1603C>A (p.His535Asn)
c.331C>A (p.His111Asn)
c.1720C>A (p.His574Asn)
c.1693C>A (p.His565Asn)
c.1597C>A (p.His533Asn)
c.1204C>A (p.His402Asn)
c.1666C>A (p.His556Asn)
c.1600C>A (p.His534Asn)
c.631C>A (p.His211Asn)
20g.63413491G>ACA511340033KCNQ2c.1668C>T (p.Gly556=)
c.1722C>T (p.Gly574=)
c.1119C>T (p.Gly373=)
c.1629C>T (p.Gly543=)
c.1290C>T (p.Gly430=)
c.1638C>T (p.Gly546=)
c.1602C>T (p.Gly534=)
c.330C>T (p.Gly110=)
c.1719C>T (p.Gly573=)
c.1692C>T (p.Gly564=)
c.1596C>T (p.Gly532=)
c.1203C>T (p.Gly401=)
c.1665C>T (p.Gly555=)
c.1599C>T (p.Gly533=)
c.630C>T (p.Gly210=)
 gnomAD v4
20g.63413491G>CCA511340034KCNQ2c.1668C>G (p.Gly556=)
c.1722C>G (p.Gly574=)
c.1119C>G (p.Gly373=)
c.1629C>G (p.Gly543=)
c.1290C>G (p.Gly430=)
c.1638C>G (p.Gly546=)
c.1602C>G (p.Gly534=)
c.330C>G (p.Gly110=)
c.1719C>G (p.Gly573=)
c.1692C>G (p.Gly564=)
c.1596C>G (p.Gly532=)
c.1203C>G (p.Gly401=)
c.1665C>G (p.Gly555=)
c.1599C>G (p.Gly533=)
c.630C>G (p.Gly210=)
20g.63413491G>TCA511340035KCNQ2c.1668C>A (p.Gly556=)
c.1722C>A (p.Gly574=)
c.1119C>A (p.Gly373=)
c.1629C>A (p.Gly543=)
c.1290C>A (p.Gly430=)
c.1638C>A (p.Gly546=)
c.1602C>A (p.Gly534=)
c.330C>A (p.Gly110=)
c.1719C>A (p.Gly573=)
c.1692C>A (p.Gly564=)
c.1596C>A (p.Gly532=)
c.1203C>A (p.Gly401=)
c.1665C>A (p.Gly555=)
c.1599C>A (p.Gly533=)
c.630C>A (p.Gly210=)
20g.63413492C>ACA409643539KCNQ2c.1667G>T (p.Gly556Val)
c.1721G>T (p.Gly574Val)
c.1118G>T (p.Gly373Val)
c.1628G>T (p.Gly543Val)
c.1289G>T (p.Gly430Val)
c.1637G>T (p.Gly546Val)
c.1601G>T (p.Gly534Val)
c.329G>T (p.Gly110Val)
c.1718G>T (p.Gly573Val)
c.1691G>T (p.Gly564Val)
c.1595G>T (p.Gly532Val)
c.1202G>T (p.Gly401Val)
c.1664G>T (p.Gly555Val)
c.1598G>T (p.Gly533Val)
c.629G>T (p.Gly210Val)
20g.63413492C=CA2374777958KCNQ2c.1667G= (p.Gly556=)
c.1721G= (p.Gly574=)
c.1118G= (p.Gly373=)
c.1628G= (p.Gly543=)
c.1289G= (p.Gly430=)
c.1637G= (p.Gly546=)
c.1601G= (p.Gly534=)
c.329G= (p.Gly110=)
c.1718G= (p.Gly573=)
c.1691G= (p.Gly564=)
c.1595G= (p.Gly532=)
c.1202G= (p.Gly401=)
c.1664G= (p.Gly555=)
c.1598G= (p.Gly533=)
c.629G= (p.Gly210=)
20g.63413492C>GCA409643541KCNQ2c.1667G>C (p.Gly556Ala)
c.1721G>C (p.Gly574Ala)
c.1118G>C (p.Gly373Ala)
c.1628G>C (p.Gly543Ala)
c.1289G>C (p.Gly430Ala)
c.1637G>C (p.Gly546Ala)
c.1601G>C (p.Gly534Ala)
c.329G>C (p.Gly110Ala)
c.1718G>C (p.Gly573Ala)
c.1691G>C (p.Gly564Ala)
c.1595G>C (p.Gly532Ala)
c.1202G>C (p.Gly401Ala)
c.1664G>C (p.Gly555Ala)
c.1598G>C (p.Gly533Ala)
c.629G>C (p.Gly210Ala)
20g.63413492C>TCA315480KCNQ2c.1667G>A (p.Gly556Asp)
c.1721G>A (p.Gly574Asp)
c.1118G>A (p.Gly373Asp)
c.1628G>A (p.Gly543Asp)
c.1289G>A (p.Gly430Asp)
c.1637G>A (p.Gly546Asp)
c.1601G>A (p.Gly534Asp)
c.329G>A (p.Gly110Asp)
c.1718G>A (p.Gly573Asp)
c.1691G>A (p.Gly564Asp)
c.1595G>A (p.Gly532Asp)
c.1202G>A (p.Gly401Asp)
c.1664G>A (p.Gly555Asp)
c.1598G>A (p.Gly533Asp)
c.629G>A (p.Gly210Asp)
 ClinVar dbSNP
20g.63413493C>ACA409643545KCNQ2c.1666G>T (p.Gly556Cys)
c.1720G>T (p.Gly574Cys)
c.1117G>T (p.Gly373Cys)
c.1627G>T (p.Gly543Cys)
c.1288G>T (p.Gly430Cys)
c.1636G>T (p.Gly546Cys)
c.1600G>T (p.Gly534Cys)
c.328G>T (p.Gly110Cys)
c.1717G>T (p.Gly573Cys)
c.1690G>T (p.Gly564Cys)
c.1594G>T (p.Gly532Cys)
c.1201G>T (p.Gly401Cys)
c.1663G>T (p.Gly555Cys)
c.1597G>T (p.Gly533Cys)
c.628G>T (p.Gly210Cys)
20g.63413493C=CA2374777959KCNQ2c.1666G= (p.Gly556=)
c.1720G= (p.Gly574=)
c.1117G= (p.Gly373=)
c.1627G= (p.Gly543=)
c.1288G= (p.Gly430=)
c.1636G= (p.Gly546=)
c.1600G= (p.Gly534=)
c.328G= (p.Gly110=)
c.1717G= (p.Gly573=)
c.1690G= (p.Gly564=)
c.1594G= (p.Gly532=)
c.1201G= (p.Gly401=)
c.1663G= (p.Gly555=)
c.1597G= (p.Gly533=)
c.628G= (p.Gly210=)
20g.63413493C>GCA409643549KCNQ2c.1666G>C (p.Gly556Arg)
c.1720G>C (p.Gly574Arg)
c.1117G>C (p.Gly373Arg)
c.1627G>C (p.Gly543Arg)
c.1288G>C (p.Gly430Arg)
c.1636G>C (p.Gly546Arg)
c.1600G>C (p.Gly534Arg)
c.328G>C (p.Gly110Arg)
c.1717G>C (p.Gly573Arg)
c.1690G>C (p.Gly564Arg)
c.1594G>C (p.Gly532Arg)
c.1201G>C (p.Gly401Arg)
c.1663G>C (p.Gly555Arg)
c.1597G>C (p.Gly533Arg)
c.628G>C (p.Gly210Arg)
20g.63413493C>TCA409643553KCNQ2c.1666G>A (p.Gly556Ser)
c.1720G>A (p.Gly574Ser)
c.1117G>A (p.Gly373Ser)
c.1627G>A (p.Gly543Ser)
c.1288G>A (p.Gly430Ser)
c.1636G>A (p.Gly546Ser)
c.1600G>A (p.Gly534Ser)
c.328G>A (p.Gly110Ser)
c.1717G>A (p.Gly573Ser)
c.1690G>A (p.Gly564Ser)
c.1594G>A (p.Gly532Ser)
c.1201G>A (p.Gly401Ser)
c.1663G>A (p.Gly555Ser)
c.1597G>A (p.Gly533Ser)
c.628G>A (p.Gly210Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
20g.63413494G>ACA288927KCNQ2c.1665C>T (p.Ala555=)
c.1719C>T (p.Ala573=)
c.1116C>T (p.Ala372=)
c.1626C>T (p.Ala542=)
c.1287C>T (p.Ala429=)
c.1635C>T (p.Ala545=)
c.1599C>T (p.Ala533=)
c.327C>T (p.Ala109=)
c.1716C>T (p.Ala572=)
c.1689C>T (p.Ala563=)
c.1593C>T (p.Ala531=)
c.1200C>T (p.Ala400=)
c.1662C>T (p.Ala554=)
c.1596C>T (p.Ala532=)
c.627C>T (p.Ala209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63413494G>CCA317428763KCNQ2c.1665C>G (p.Ala555=)
c.1719C>G (p.Ala573=)
c.1116C>G (p.Ala372=)
c.1626C>G (p.Ala542=)
c.1287C>G (p.Ala429=)
c.1635C>G (p.Ala545=)
c.1599C>G (p.Ala533=)
c.327C>G (p.Ala109=)
c.1716C>G (p.Ala572=)
c.1689C>G (p.Ala563=)
c.1593C>G (p.Ala531=)
c.1200C>G (p.Ala400=)
c.1662C>G (p.Ala554=)
c.1596C>G (p.Ala532=)
c.627C>G (p.Ala209=)
 dbSNP
20g.63413494G=CA2374777960KCNQ2c.1665C= (p.Ala555=)
c.1719C= (p.Ala573=)
c.1116C= (p.Ala372=)
c.1626C= (p.Ala542=)
c.1287C= (p.Ala429=)
c.1635C= (p.Ala545=)
c.1599C= (p.Ala533=)
c.327C= (p.Ala109=)
c.1716C= (p.Ala572=)
c.1689C= (p.Ala563=)
c.1593C= (p.Ala531=)
c.1200C= (p.Ala400=)
c.1662C= (p.Ala554=)
c.1596C= (p.Ala532=)
c.627C= (p.Ala209=)
20g.63413494G>TCA511340038KCNQ2c.1665C>A (p.Ala555=)
c.1719C>A (p.Ala573=)
c.1116C>A (p.Ala372=)
c.1626C>A (p.Ala542=)
c.1287C>A (p.Ala429=)
c.1635C>A (p.Ala545=)
c.1599C>A (p.Ala533=)
c.327C>A (p.Ala109=)
c.1716C>A (p.Ala572=)
c.1689C>A (p.Ala563=)
c.1593C>A (p.Ala531=)
c.1200C>A (p.Ala400=)
c.1662C>A (p.Ala554=)
c.1596C>A (p.Ala532=)
c.627C>A (p.Ala209=)
20g.63413495G>ACA409643554KCNQ2c.1664C>T (p.Ala555Val)
c.1718C>T (p.Ala573Val)
c.1115C>T (p.Ala372Val)
c.1625C>T (p.Ala542Val)
c.1286C>T (p.Ala429Val)
c.1634C>T (p.Ala545Val)
c.1598C>T (p.Ala533Val)
c.326C>T (p.Ala109Val)
c.1715C>T (p.Ala572Val)
c.1688C>T (p.Ala563Val)
c.1592C>T (p.Ala531Val)
c.1199C>T (p.Ala400Val)
c.1661C>T (p.Ala554Val)
c.1595C>T (p.Ala532Val)
c.626C>T (p.Ala209Val)
20g.63413495G>CCA409643557KCNQ2c.1664C>G (p.Ala555Gly)
c.1718C>G (p.Ala573Gly)
c.1115C>G (p.Ala372Gly)
c.1625C>G (p.Ala542Gly)
c.1286C>G (p.Ala429Gly)
c.1634C>G (p.Ala545Gly)
c.1598C>G (p.Ala533Gly)
c.326C>G (p.Ala109Gly)
c.1715C>G (p.Ala572Gly)
c.1688C>G (p.Ala563Gly)
c.1592C>G (p.Ala531Gly)
c.1199C>G (p.Ala400Gly)
c.1661C>G (p.Ala554Gly)
c.1595C>G (p.Ala532Gly)
c.626C>G (p.Ala209Gly)
20g.63413495G>TCA409643555KCNQ2c.1664C>A (p.Ala555Asp)
c.1718C>A (p.Ala573Asp)
c.1115C>A (p.Ala372Asp)
c.1625C>A (p.Ala542Asp)
c.1286C>A (p.Ala429Asp)
c.1634C>A (p.Ala545Asp)
c.1598C>A (p.Ala533Asp)
c.326C>A (p.Ala109Asp)
c.1715C>A (p.Ala572Asp)
c.1688C>A (p.Ala563Asp)
c.1592C>A (p.Ala531Asp)
c.1199C>A (p.Ala400Asp)
c.1661C>A (p.Ala554Asp)
c.1595C>A (p.Ala532Asp)
c.626C>A (p.Ala209Asp)
20g.63413496C>ACA409643566KCNQ2c.1663G>T (p.Ala555Ser)
c.1717G>T (p.Ala573Ser)
c.1114G>T (p.Ala372Ser)
c.1624G>T (p.Ala542Ser)
c.1285G>T (p.Ala429Ser)
c.1633G>T (p.Ala545Ser)
c.1597G>T (p.Ala533Ser)
c.325G>T (p.Ala109Ser)
c.1714G>T (p.Ala572Ser)
c.1687G>T (p.Ala563Ser)
c.1591G>T (p.Ala531Ser)
c.1198G>T (p.Ala400Ser)
c.1660G>T (p.Ala554Ser)
c.1594G>T (p.Ala532Ser)
c.625G>T (p.Ala209Ser)
20g.63413496C>GCA409643569KCNQ2c.1663G>C (p.Ala555Pro)
c.1717G>C (p.Ala573Pro)
c.1114G>C (p.Ala372Pro)
c.1624G>C (p.Ala542Pro)
c.1285G>C (p.Ala429Pro)
c.1633G>C (p.Ala545Pro)
c.1597G>C (p.Ala533Pro)
c.325G>C (p.Ala109Pro)
c.1714G>C (p.Ala572Pro)
c.1687G>C (p.Ala563Pro)
c.1591G>C (p.Ala531Pro)
c.1198G>C (p.Ala400Pro)
c.1660G>C (p.Ala554Pro)
c.1594G>C (p.Ala532Pro)
c.625G>C (p.Ala209Pro)
20g.63413496C>TCA409643573KCNQ2c.1663G>A (p.Ala555Thr)
c.1717G>A (p.Ala573Thr)
c.1114G>A (p.Ala372Thr)
c.1624G>A (p.Ala542Thr)
c.1285G>A (p.Ala429Thr)
c.1633G>A (p.Ala545Thr)
c.1597G>A (p.Ala533Thr)
c.325G>A (p.Ala109Thr)
c.1714G>A (p.Ala572Thr)
c.1687G>A (p.Ala563Thr)
c.1591G>A (p.Ala531Thr)
c.1198G>A (p.Ala400Thr)
c.1660G>A (p.Ala554Thr)
c.1594G>A (p.Ala532Thr)
c.625G>A (p.Ala209Thr)
20g.63413497T>ACA511340042KCNQ2c.1662A>T (p.Ser554=)
c.1716A>T (p.Ser572=)
c.1113A>T (p.Ser371=)
c.1623A>T (p.Ser541=)
c.1284A>T (p.Ser428=)
c.1632A>T (p.Ser544=)
c.1596A>T (p.Ser532=)
c.324A>T (p.Ser108=)
c.1713A>T (p.Ser571=)
c.1686A>T (p.Ser562=)
c.1590A>T (p.Ser530=)
c.1197A>T (p.Ser399=)
c.1659A>T (p.Ser553=)
c.1593A>T (p.Ser531=)
c.624A>T (p.Ser208=)
 dbSNP gnomAD v3 gnomAD v4
20g.63413497T>CCA511340043KCNQ2c.1662A>G (p.Ser554=)
c.1716A>G (p.Ser572=)
c.1113A>G (p.Ser371=)
c.1623A>G (p.Ser541=)
c.1284A>G (p.Ser428=)
c.1632A>G (p.Ser544=)
c.1596A>G (p.Ser532=)
c.324A>G (p.Ser108=)
c.1713A>G (p.Ser571=)
c.1686A>G (p.Ser562=)
c.1590A>G (p.Ser530=)
c.1197A>G (p.Ser399=)
c.1659A>G (p.Ser553=)
c.1593A>G (p.Ser531=)
c.624A>G (p.Ser208=)
 dbSNP gnomAD v2 gnomAD v4
20g.63413497T>GCA511340045KCNQ2c.1662A>C (p.Ser554=)
c.1716A>C (p.Ser572=)
c.1113A>C (p.Ser371=)
c.1623A>C (p.Ser541=)
c.1284A>C (p.Ser428=)
c.1632A>C (p.Ser544=)
c.1596A>C (p.Ser532=)
c.324A>C (p.Ser108=)
c.1713A>C (p.Ser571=)
c.1686A>C (p.Ser562=)
c.1590A>C (p.Ser530=)
c.1197A>C (p.Ser399=)
c.1659A>C (p.Ser553=)
c.1593A>C (p.Ser531=)
c.624A>C (p.Ser208=)
20g.63413497T=CA2374777961KCNQ2c.1662A= (p.Ser554=)
c.1716A= (p.Ser572=)
c.1113A= (p.Ser371=)
c.1623A= (p.Ser541=)
c.1284A= (p.Ser428=)
c.1632A= (p.Ser544=)
c.1596A= (p.Ser532=)
c.324A= (p.Ser108=)
c.1713A= (p.Ser571=)
c.1686A= (p.Ser562=)
c.1590A= (p.Ser530=)
c.1197A= (p.Ser399=)
c.1659A= (p.Ser553=)
c.1593A= (p.Ser531=)
c.624A= (p.Ser208=)
20g.63413498G>ACA409643576KCNQ2c.1661C>T (p.Ser554Leu)
c.1715C>T (p.Ser572Leu)
c.1112C>T (p.Ser371Leu)
c.1622C>T (p.Ser541Leu)
c.1283C>T (p.Ser428Leu)
c.1631C>T (p.Ser544Leu)
c.1595C>T (p.Ser532Leu)
c.323C>T (p.Ser108Leu)
c.1712C>T (p.Ser571Leu)
c.1685C>T (p.Ser562Leu)
c.1589C>T (p.Ser530Leu)
c.1196C>T (p.Ser399Leu)
c.1658C>T (p.Ser553Leu)
c.1592C>T (p.Ser531Leu)
c.623C>T (p.Ser208Leu)
 COSMIC COSMIC COSMIC
20g.63413498G>CCA409643591KCNQ2c.1661C>G (p.Ser554Ter)
c.1715C>G (p.Ser572Ter)
c.1112C>G (p.Ser371Ter)
c.1622C>G (p.Ser541Ter)
c.1283C>G (p.Ser428Ter)
c.1631C>G (p.Ser544Ter)
c.1595C>G (p.Ser532Ter)
c.323C>G (p.Ser108Ter)
c.1712C>G (p.Ser571Ter)
c.1685C>G (p.Ser562Ter)
c.1589C>G (p.Ser530Ter)
c.1196C>G (p.Ser399Ter)
c.1658C>G (p.Ser553Ter)
c.1592C>G (p.Ser531Ter)
c.623C>G (p.Ser208Ter)
20g.63413498G>TCA409643594KCNQ2c.1661C>A (p.Ser554Ter)
c.1715C>A (p.Ser572Ter)
c.1112C>A (p.Ser371Ter)
c.1622C>A (p.Ser541Ter)
c.1283C>A (p.Ser428Ter)
c.1631C>A (p.Ser544Ter)
c.1595C>A (p.Ser532Ter)
c.323C>A (p.Ser108Ter)
c.1712C>A (p.Ser571Ter)
c.1685C>A (p.Ser562Ter)
c.1589C>A (p.Ser530Ter)
c.1196C>A (p.Ser399Ter)
c.1658C>A (p.Ser553Ter)
c.1592C>A (p.Ser531Ter)
c.623C>A (p.Ser208Ter)
20g.63413499A>CCA409643600KCNQ2c.1660T>G (p.Ser554Ala)
c.1714T>G (p.Ser572Ala)
c.1111T>G (p.Ser371Ala)
c.1621T>G (p.Ser541Ala)
c.1282T>G (p.Ser428Ala)
c.1630T>G (p.Ser544Ala)
c.1594T>G (p.Ser532Ala)
c.322T>G (p.Ser108Ala)
c.1711T>G (p.Ser571Ala)
c.1684T>G (p.Ser562Ala)
c.1588T>G (p.Ser530Ala)
c.1195T>G (p.Ser399Ala)
c.1657T>G (p.Ser553Ala)
c.1591T>G (p.Ser531Ala)
c.622T>G (p.Ser208Ala)
20g.63413499A>GCA409643603KCNQ2c.1660T>C (p.Ser554Pro)
c.1714T>C (p.Ser572Pro)
c.1111T>C (p.Ser371Pro)
c.1621T>C (p.Ser541Pro)
c.1282T>C (p.Ser428Pro)
c.1630T>C (p.Ser544Pro)
c.1594T>C (p.Ser532Pro)
c.322T>C (p.Ser108Pro)
c.1711T>C (p.Ser571Pro)
c.1684T>C (p.Ser562Pro)
c.1588T>C (p.Ser530Pro)
c.1195T>C (p.Ser399Pro)
c.1657T>C (p.Ser553Pro)
c.1591T>C (p.Ser531Pro)
c.622T>C (p.Ser208Pro)
20g.63413499A>TCA409643605KCNQ2c.1660T>A (p.Ser554Thr)
c.1714T>A (p.Ser572Thr)
c.1111T>A (p.Ser371Thr)
c.1621T>A (p.Ser541Thr)
c.1282T>A (p.Ser428Thr)
c.1630T>A (p.Ser544Thr)
c.1594T>A (p.Ser532Thr)
c.322T>A (p.Ser108Thr)
c.1711T>A (p.Ser571Thr)
c.1684T>A (p.Ser562Thr)
c.1588T>A (p.Ser530Thr)
c.1195T>A (p.Ser399Thr)
c.1657T>A (p.Ser553Thr)
c.1591T>A (p.Ser531Thr)
c.622T>A (p.Ser208Thr)
20g.63413500G>ACA511340046KCNQ2c.1659C>T (p.Tyr553=)
c.1713C>T (p.Tyr571=)
c.1110C>T (p.Tyr370=)
c.1620C>T (p.Tyr540=)
c.1281C>T (p.Tyr427=)
c.1629C>T (p.Tyr543=)
c.1593C>T (p.Tyr531=)
c.321C>T (p.Tyr107=)
c.1710C>T (p.Tyr570=)
c.1683C>T (p.Tyr561=)
c.1587C>T (p.Tyr529=)
c.1194C>T (p.Tyr398=)
c.1656C>T (p.Tyr552=)
c.1590C>T (p.Tyr530=)
c.621C>T (p.Tyr207=)
 dbSNP gnomAD v2 gnomAD v4
20g.63413500G>CCA409643608KCNQ2c.1659C>G (p.Tyr553Ter)
c.1713C>G (p.Tyr571Ter)
c.1110C>G (p.Tyr370Ter)
c.1620C>G (p.Tyr540Ter)
c.1281C>G (p.Tyr427Ter)
c.1629C>G (p.Tyr543Ter)
c.1593C>G (p.Tyr531Ter)
c.321C>G (p.Tyr107Ter)
c.1710C>G (p.Tyr570Ter)
c.1683C>G (p.Tyr561Ter)
c.1587C>G (p.Tyr529Ter)
c.1194C>G (p.Tyr398Ter)
c.1656C>G (p.Tyr552Ter)
c.1590C>G (p.Tyr530Ter)
c.621C>G (p.Tyr207Ter)
20g.63413500G=CA2374777962KCNQ2c.1659C= (p.Tyr553=)
c.1713C= (p.Tyr571=)
c.1110C= (p.Tyr370=)
c.1620C= (p.Tyr540=)
c.1281C= (p.Tyr427=)
c.1629C= (p.Tyr543=)
c.1593C= (p.Tyr531=)
c.321C= (p.Tyr107=)
c.1710C= (p.Tyr570=)
c.1683C= (p.Tyr561=)
c.1587C= (p.Tyr529=)
c.1194C= (p.Tyr398=)
c.1656C= (p.Tyr552=)
c.1590C= (p.Tyr530=)
c.621C= (p.Tyr207=)
20g.63413500G>TCA409643612KCNQ2c.1659C>A (p.Tyr553Ter)
c.1713C>A (p.Tyr571Ter)
c.1110C>A (p.Tyr370Ter)
c.1620C>A (p.Tyr540Ter)
c.1281C>A (p.Tyr427Ter)
c.1629C>A (p.Tyr543Ter)
c.1593C>A (p.Tyr531Ter)
c.321C>A (p.Tyr107Ter)
c.1710C>A (p.Tyr570Ter)
c.1683C>A (p.Tyr561Ter)
c.1587C>A (p.Tyr529Ter)
c.1194C>A (p.Tyr398Ter)
c.1656C>A (p.Tyr552Ter)
c.1590C>A (p.Tyr530Ter)
c.621C>A (p.Tyr207Ter)
20g.63413501T>ACA409643621KCNQ2c.1658A>T (p.Tyr553Phe)
c.1712A>T (p.Tyr571Phe)
c.1109A>T (p.Tyr370Phe)
c.1619A>T (p.Tyr540Phe)
c.1280A>T (p.Tyr427Phe)
c.1628A>T (p.Tyr543Phe)
c.1592A>T (p.Tyr531Phe)
c.320A>T (p.Tyr107Phe)
c.1709A>T (p.Tyr570Phe)
c.1682A>T (p.Tyr561Phe)
c.1586A>T (p.Tyr529Phe)
c.1193A>T (p.Tyr398Phe)
c.1655A>T (p.Tyr552Phe)
c.1589A>T (p.Tyr530Phe)
c.620A>T (p.Tyr207Phe)
20g.63413501T>CCA409643618KCNQ2c.1658A>G (p.Tyr553Cys)
c.1712A>G (p.Tyr571Cys)
c.1109A>G (p.Tyr370Cys)
c.1619A>G (p.Tyr540Cys)
c.1280A>G (p.Tyr427Cys)
c.1628A>G (p.Tyr543Cys)
c.1592A>G (p.Tyr531Cys)
c.320A>G (p.Tyr107Cys)
c.1709A>G (p.Tyr570Cys)
c.1682A>G (p.Tyr561Cys)
c.1586A>G (p.Tyr529Cys)
c.1193A>G (p.Tyr398Cys)
c.1655A>G (p.Tyr552Cys)
c.1589A>G (p.Tyr530Cys)
c.620A>G (p.Tyr207Cys)
20g.63413501T>GCA409643615KCNQ2c.1658A>C (p.Tyr553Ser)
c.1712A>C (p.Tyr571Ser)
c.1109A>C (p.Tyr370Ser)
c.1619A>C (p.Tyr540Ser)
c.1280A>C (p.Tyr427Ser)
c.1628A>C (p.Tyr543Ser)
c.1592A>C (p.Tyr531Ser)
c.320A>C (p.Tyr107Ser)
c.1709A>C (p.Tyr570Ser)
c.1682A>C (p.Tyr561Ser)
c.1586A>C (p.Tyr529Ser)
c.1193A>C (p.Tyr398Ser)
c.1655A>C (p.Tyr552Ser)
c.1589A>C (p.Tyr530Ser)
c.620A>C (p.Tyr207Ser)
20g.63413502A>CCA409643626KCNQ2c.1657T>G (p.Tyr553Asp)
c.1711T>G (p.Tyr571Asp)
c.1108T>G (p.Tyr370Asp)
c.1618T>G (p.Tyr540Asp)
c.1279T>G (p.Tyr427Asp)
c.1627T>G (p.Tyr543Asp)
c.1591T>G (p.Tyr531Asp)
c.319T>G (p.Tyr107Asp)
c.1708T>G (p.Tyr570Asp)
c.1681T>G (p.Tyr561Asp)
c.1585T>G (p.Tyr529Asp)
c.1192T>G (p.Tyr398Asp)
c.1654T>G (p.Tyr552Asp)
c.1588T>G (p.Tyr530Asp)
c.619T>G (p.Tyr207Asp)
20g.63413502A>GCA409643635KCNQ2c.1657T>C (p.Tyr553His)
c.1711T>C (p.Tyr571His)
c.1108T>C (p.Tyr370His)
c.1618T>C (p.Tyr540His)
c.1279T>C (p.Tyr427His)
c.1627T>C (p.Tyr543His)
c.1591T>C (p.Tyr531His)
c.319T>C (p.Tyr107His)
c.1708T>C (p.Tyr570His)
c.1681T>C (p.Tyr561His)
c.1585T>C (p.Tyr529His)
c.1192T>C (p.Tyr398His)
c.1654T>C (p.Tyr552His)
c.1588T>C (p.Tyr530His)
c.619T>C (p.Tyr207His)
20g.63413502A>TCA409643638KCNQ2c.1657T>A (p.Tyr553Asn)
c.1711T>A (p.Tyr571Asn)
c.1108T>A (p.Tyr370Asn)
c.1618T>A (p.Tyr540Asn)
c.1279T>A (p.Tyr427Asn)
c.1627T>A (p.Tyr543Asn)
c.1591T>A (p.Tyr531Asn)
c.319T>A (p.Tyr107Asn)
c.1708T>A (p.Tyr570Asn)
c.1681T>A (p.Tyr561Asn)
c.1585T>A (p.Tyr529Asn)
c.1192T>A (p.Tyr398Asn)
c.1654T>A (p.Tyr552Asn)
c.1588T>A (p.Tyr530Asn)
c.619T>A (p.Tyr207Asn)
20g.63413503C>ACA409643642KCNQ2c.1656G>T (p.Gln552His)
c.1710G>T (p.Gln570His)
c.1107G>T (p.Gln369His)
c.1617G>T (p.Gln539His)
c.1278G>T (p.Gln426His)
c.1626G>T (p.Gln542His)
c.1590G>T (p.Gln530His)
c.318G>T (p.Gln106His)
c.1707G>T (p.Gln569His)
c.1680G>T (p.Gln560His)
c.1584G>T (p.Gln528His)
c.1191G>T (p.Gln397His)
c.1653G>T (p.Gln551His)
c.1587G>T (p.Gln529His)
c.618G>T (p.Gln206His)
20g.63413503C>GCA409643643KCNQ2c.1656G>C (p.Gln552His)
c.1710G>C (p.Gln570His)
c.1107G>C (p.Gln369His)
c.1617G>C (p.Gln539His)
c.1278G>C (p.Gln426His)
c.1626G>C (p.Gln542His)
c.1590G>C (p.Gln530His)
c.318G>C (p.Gln106His)
c.1707G>C (p.Gln569His)
c.1680G>C (p.Gln560His)
c.1584G>C (p.Gln528His)
c.1191G>C (p.Gln397His)
c.1653G>C (p.Gln551His)
c.1587G>C (p.Gln529His)
c.618G>C (p.Gln206His)
20g.63413503C>TCA511340050KCNQ2c.1656G>A (p.Gln552=)
c.1710G>A (p.Gln570=)
c.1107G>A (p.Gln369=)
c.1617G>A (p.Gln539=)
c.1278G>A (p.Gln426=)
c.1626G>A (p.Gln542=)
c.1590G>A (p.Gln530=)
c.318G>A (p.Gln106=)
c.1707G>A (p.Gln569=)
c.1680G>A (p.Gln560=)
c.1584G>A (p.Gln528=)
c.1191G>A (p.Gln397=)
c.1653G>A (p.Gln551=)
c.1587G>A (p.Gln529=)
c.618G>A (p.Gln206=)
 dbSNP
20g.63413503_63413504delinsCTCA2374777963KCNQ2c.1655_1656delinsAG (p.Gln552=)
c.1709_1710delinsAG (p.Gln570=)
c.1106_1107delinsAG (p.Gln369=)
c.1616_1617delinsAG (p.Gln539=)
c.1277_1278delinsAG (p.Gln426=)
c.1625_1626delinsAG (p.Gln542=)
c.1589_1590delinsAG (p.Gln530=)
c.317_318delinsAG (p.Gln106=)
c.1706_1707delinsAG (p.Gln569=)
c.1679_1680delinsAG (p.Gln560=)
c.1583_1584delinsAG (p.Gln528=)
c.1190_1191delinsAG (p.Gln397=)
c.1652_1653delinsAG (p.Gln551=)
c.1586_1587delinsAG (p.Gln529=)
c.617_618delinsAG (p.Gln206=)
20g.63413504delCA658823780KCNQ2c.1655del (p.Gln552ArgfsTer20)
c.1709del (p.Gln570ArgfsTer?)
c.1106del (p.Gln369ArgfsTer?)
c.1616del (p.Gln539ArgfsTer?)
c.1277del (p.Gln426ArgfsTer?)
c.1625del (p.Gln542ArgfsTer?)
c.1625del (p.Gln542ArgfsTer20)
c.1589del (p.Gln530ArgfsTer20)
c.1655del (p.Gln552ArgfsTer?)
c.317del (p.Gln106ArgfsTer?)
c.1709del (p.Gln570ArgfsTer20)
c.1706del (p.Gln569ArgfsTer20)
c.1679del (p.Gln560ArgfsTer20)
c.1706del (p.Gln569ArgfsTer?)
c.1583del (p.Gln528ArgfsTer20)
c.1190del (p.Gln397ArgfsTer20)
c.1652del (p.Gln551ArgfsTer20)
c.1586del (p.Gln529ArgfsTer20)
c.1652del (p.Gln551ArgfsTer?)
c.617del (p.Gln206ArgfsTer20)
 ClinVar dbSNP
20g.63413504T>ACA409643644KCNQ2c.1655A>T (p.Gln552Leu)
c.1709A>T (p.Gln570Leu)
c.1106A>T (p.Gln369Leu)
c.1616A>T (p.Gln539Leu)
c.1277A>T (p.Gln426Leu)
c.1625A>T (p.Gln542Leu)
c.1589A>T (p.Gln530Leu)
c.317A>T (p.Gln106Leu)
c.1706A>T (p.Gln569Leu)
c.1679A>T (p.Gln560Leu)
c.1583A>T (p.Gln528Leu)
c.1190A>T (p.Gln397Leu)
c.1652A>T (p.Gln551Leu)
c.1586A>T (p.Gln529Leu)
c.617A>T (p.Gln206Leu)
20g.63413504T>CCA409643645KCNQ2c.1655A>G (p.Gln552Arg)
c.1709A>G (p.Gln570Arg)
c.1106A>G (p.Gln369Arg)
c.1616A>G (p.Gln539Arg)
c.1277A>G (p.Gln426Arg)
c.1625A>G (p.Gln542Arg)
c.1589A>G (p.Gln530Arg)
c.317A>G (p.Gln106Arg)
c.1706A>G (p.Gln569Arg)
c.1679A>G (p.Gln560Arg)
c.1583A>G (p.Gln528Arg)
c.1190A>G (p.Gln397Arg)
c.1652A>G (p.Gln551Arg)
c.1586A>G (p.Gln529Arg)
c.617A>G (p.Gln206Arg)
20g.63413504T>GCA409643646KCNQ2c.1655A>C (p.Gln552Pro)
c.1709A>C (p.Gln570Pro)
c.1106A>C (p.Gln369Pro)
c.1616A>C (p.Gln539Pro)
c.1277A>C (p.Gln426Pro)
c.1625A>C (p.Gln542Pro)
c.1589A>C (p.Gln530Pro)
c.317A>C (p.Gln106Pro)
c.1706A>C (p.Gln569Pro)
c.1679A>C (p.Gln560Pro)
c.1583A>C (p.Gln528Pro)
c.1190A>C (p.Gln397Pro)
c.1652A>C (p.Gln551Pro)
c.1586A>C (p.Gln529Pro)
c.617A>C (p.Gln206Pro)
20g.63413505G>ACA409643648KCNQ2c.1654C>T (p.Gln552Ter)
c.1708C>T (p.Gln570Ter)
c.1105C>T (p.Gln369Ter)
c.1615C>T (p.Gln539Ter)
c.1276C>T (p.Gln426Ter)
c.1624C>T (p.Gln542Ter)
c.1588C>T (p.Gln530Ter)
c.316C>T (p.Gln106Ter)
c.1705C>T (p.Gln569Ter)
c.1678C>T (p.Gln560Ter)
c.1582C>T (p.Gln528Ter)
c.1189C>T (p.Gln397Ter)
c.1651C>T (p.Gln551Ter)
c.1585C>T (p.Gln529Ter)
c.616C>T (p.Gln206Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
20g.63413505G>CCA409643651KCNQ2c.1654C>G (p.Gln552Glu)
c.1708C>G (p.Gln570Glu)
c.1105C>G (p.Gln369Glu)
c.1615C>G (p.Gln539Glu)
c.1276C>G (p.Gln426Glu)
c.1624C>G (p.Gln542Glu)
c.1588C>G (p.Gln530Glu)
c.316C>G (p.Gln106Glu)
c.1705C>G (p.Gln569Glu)
c.1678C>G (p.Gln560Glu)
c.1582C>G (p.Gln528Glu)
c.1189C>G (p.Gln397Glu)
c.1651C>G (p.Gln551Glu)
c.1585C>G (p.Gln529Glu)
c.616C>G (p.Gln206Glu)
20g.63413505G=CA2374777964KCNQ2c.1654C= (p.Gln552=)
c.1708C= (p.Gln570=)
c.1105C= (p.Gln369=)
c.1615C= (p.Gln539=)
c.1276C= (p.Gln426=)
c.1624C= (p.Gln542=)
c.1588C= (p.Gln530=)
c.316C= (p.Gln106=)
c.1705C= (p.Gln569=)
c.1678C= (p.Gln560=)
c.1582C= (p.Gln528=)
c.1189C= (p.Gln397=)
c.1651C= (p.Gln551=)
c.1585C= (p.Gln529=)
c.616C= (p.Gln206=)
20g.63413505G>TCA409643652KCNQ2c.1654C>A (p.Gln552Lys)
c.1708C>A (p.Gln570Lys)
c.1105C>A (p.Gln369Lys)
c.1615C>A (p.Gln539Lys)
c.1276C>A (p.Gln426Lys)
c.1624C>A (p.Gln542Lys)
c.1588C>A (p.Gln530Lys)
c.316C>A (p.Gln106Lys)
c.1705C>A (p.Gln569Lys)
c.1678C>A (p.Gln560Lys)
c.1582C>A (p.Gln528Lys)
c.1189C>A (p.Gln397Lys)
c.1651C>A (p.Gln551Lys)
c.1585C>A (p.Gln529Lys)
c.616C>A (p.Gln206Lys)
20g.63413506C>ACA409643654KCNQ2c.1653G>T (p.Glu551Asp)
c.1707G>T (p.Glu569Asp)
c.1104G>T (p.Glu368Asp)
c.1614G>T (p.Glu538Asp)
c.1275G>T (p.Glu425Asp)
c.1623G>T (p.Glu541Asp)
c.1587G>T (p.Glu529Asp)
c.315G>T (p.Glu105Asp)
c.1704G>T (p.Glu568Asp)
c.1677G>T (p.Glu559Asp)
c.1581G>T (p.Glu527Asp)
c.1188G>T (p.Glu396Asp)
c.1650G>T (p.Glu550Asp)
c.1584G>T (p.Glu528Asp)
c.615G>T (p.Glu205Asp)
20g.63413506C>GCA409643661KCNQ2c.1653G>C (p.Glu551Asp)
c.1707G>C (p.Glu569Asp)
c.1104G>C (p.Glu368Asp)
c.1614G>C (p.Glu538Asp)
c.1275G>C (p.Glu425Asp)
c.1623G>C (p.Glu541Asp)
c.1587G>C (p.Glu529Asp)
c.315G>C (p.Glu105Asp)
c.1704G>C (p.Glu568Asp)
c.1677G>C (p.Glu559Asp)
c.1581G>C (p.Glu527Asp)
c.1188G>C (p.Glu396Asp)
c.1650G>C (p.Glu550Asp)
c.1584G>C (p.Glu528Asp)
c.615G>C (p.Glu205Asp)
20g.63413506C>TCA511340054KCNQ2c.1653G>A (p.Glu551=)
c.1707G>A (p.Glu569=)
c.1104G>A (p.Glu368=)
c.1614G>A (p.Glu538=)
c.1275G>A (p.Glu425=)
c.1623G>A (p.Glu541=)
c.1587G>A (p.Glu529=)
c.315G>A (p.Glu105=)
c.1704G>A (p.Glu568=)
c.1677G>A (p.Glu559=)
c.1581G>A (p.Glu527=)
c.1188G>A (p.Glu396=)
c.1650G>A (p.Glu550=)
c.1584G>A (p.Glu528=)
c.615G>A (p.Glu205=)
 gnomAD v4
20g.63413507T>ACA409643664KCNQ2c.1652A>T (p.Glu551Val)
c.1706A>T (p.Glu569Val)
c.1103A>T (p.Glu368Val)
c.1613A>T (p.Glu538Val)
c.1274A>T (p.Glu425Val)
c.1622A>T (p.Glu541Val)
c.1586A>T (p.Glu529Val)
c.314A>T (p.Glu105Val)
c.1703A>T (p.Glu568Val)
c.1676A>T (p.Glu559Val)
c.1580A>T (p.Glu527Val)
c.1187A>T (p.Glu396Val)
c.1649A>T (p.Glu550Val)
c.1583A>T (p.Glu528Val)
c.614A>T (p.Glu205Val)
20g.63413507T>CCA409643667KCNQ2c.1652A>G (p.Glu551Gly)
c.1706A>G (p.Glu569Gly)
c.1103A>G (p.Glu368Gly)
c.1613A>G (p.Glu538Gly)
c.1274A>G (p.Glu425Gly)
c.1622A>G (p.Glu541Gly)
c.1586A>G (p.Glu529Gly)
c.314A>G (p.Glu105Gly)
c.1703A>G (p.Glu568Gly)
c.1676A>G (p.Glu559Gly)
c.1580A>G (p.Glu527Gly)
c.1187A>G (p.Glu396Gly)
c.1649A>G (p.Glu550Gly)
c.1583A>G (p.Glu528Gly)
c.614A>G (p.Glu205Gly)
20g.63413507T>GCA409643663KCNQ2c.1652A>C (p.Glu551Ala)
c.1706A>C (p.Glu569Ala)
c.1103A>C (p.Glu368Ala)
c.1613A>C (p.Glu538Ala)
c.1274A>C (p.Glu425Ala)
c.1622A>C (p.Glu541Ala)
c.1586A>C (p.Glu529Ala)
c.314A>C (p.Glu105Ala)
c.1703A>C (p.Glu568Ala)
c.1676A>C (p.Glu559Ala)
c.1580A>C (p.Glu527Ala)
c.1187A>C (p.Glu396Ala)
c.1649A>C (p.Glu550Ala)
c.1583A>C (p.Glu528Ala)
c.614A>C (p.Glu205Ala)
20g.63413508C>ACA409643670KCNQ2c.1651G>T (p.Glu551Ter)
c.1705G>T (p.Glu569Ter)
c.1102G>T (p.Glu368Ter)
c.1612G>T (p.Glu538Ter)
c.1273G>T (p.Glu425Ter)
c.1621G>T (p.Glu541Ter)
c.1585G>T (p.Glu529Ter)
c.313G>T (p.Glu105Ter)
c.1702G>T (p.Glu568Ter)
c.1675G>T (p.Glu559Ter)
c.1579G>T (p.Glu527Ter)
c.1186G>T (p.Glu396Ter)
c.1648G>T (p.Glu550Ter)
c.1582G>T (p.Glu528Ter)
c.613G>T (p.Glu205Ter)
20g.63413508C>GCA409643668KCNQ2c.1651G>C (p.Glu551Gln)
c.1705G>C (p.Glu569Gln)
c.1102G>C (p.Glu368Gln)
c.1612G>C (p.Glu538Gln)
c.1273G>C (p.Glu425Gln)
c.1621G>C (p.Glu541Gln)
c.1585G>C (p.Glu529Gln)
c.313G>C (p.Glu105Gln)
c.1702G>C (p.Glu568Gln)
c.1675G>C (p.Glu559Gln)
c.1579G>C (p.Glu527Gln)
c.1186G>C (p.Glu396Gln)
c.1648G>C (p.Glu550Gln)
c.1582G>C (p.Glu528Gln)
c.613G>C (p.Glu205Gln)
20g.63413508C>TCA409643669KCNQ2c.1651G>A (p.Glu551Lys)
c.1705G>A (p.Glu569Lys)
c.1102G>A (p.Glu368Lys)
c.1612G>A (p.Glu538Lys)
c.1273G>A (p.Glu425Lys)
c.1621G>A (p.Glu541Lys)
c.1585G>A (p.Glu529Lys)
c.313G>A (p.Glu105Lys)
c.1702G>A (p.Glu568Lys)
c.1675G>A (p.Glu559Lys)
c.1579G>A (p.Glu527Lys)
c.1186G>A (p.Glu396Lys)
c.1648G>A (p.Glu550Lys)
c.1582G>A (p.Glu528Lys)
c.613G>A (p.Glu205Lys)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63413509G>ACA9958324KCNQ2c.1650C>T (p.Ile550=)
c.1704C>T (p.Ile568=)
c.1101C>T (p.Ile367=)
c.1611C>T (p.Ile537=)
c.1272C>T (p.Ile424=)
c.1620C>T (p.Ile540=)
c.1584C>T (p.Ile528=)
c.312C>T (p.Ile104=)
c.1701C>T (p.Ile567=)
c.1674C>T (p.Ile558=)
c.1578C>T (p.Ile526=)
c.1185C>T (p.Ile395=)
c.1647C>T (p.Ile549=)
c.1581C>T (p.Ile527=)
c.612C>T (p.Ile204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63413509G>CCA409643674KCNQ2c.1650C>G (p.Ile550Met)
c.1704C>G (p.Ile568Met)
c.1101C>G (p.Ile367Met)
c.1611C>G (p.Ile537Met)
c.1272C>G (p.Ile424Met)
c.1620C>G (p.Ile540Met)
c.1584C>G (p.Ile528Met)
c.312C>G (p.Ile104Met)
c.1701C>G (p.Ile567Met)
c.1674C>G (p.Ile558Met)
c.1578C>G (p.Ile526Met)
c.1185C>G (p.Ile395Met)
c.1647C>G (p.Ile549Met)
c.1581C>G (p.Ile527Met)
c.612C>G (p.Ile204Met)
 ClinVar dbSNP
20g.63413509G=CA2374777965KCNQ2c.1650C= (p.Ile550=)
c.1704C= (p.Ile568=)
c.1101C= (p.Ile367=)
c.1611C= (p.Ile537=)
c.1272C= (p.Ile424=)
c.1620C= (p.Ile540=)
c.1584C= (p.Ile528=)
c.312C= (p.Ile104=)
c.1701C= (p.Ile567=)
c.1674C= (p.Ile558=)
c.1578C= (p.Ile526=)
c.1185C= (p.Ile395=)
c.1647C= (p.Ile549=)
c.1581C= (p.Ile527=)
c.612C= (p.Ile204=)
20g.63413509G>TCA511340055KCNQ2c.1650C>A (p.Ile550=)
c.1704C>A (p.Ile568=)
c.1101C>A (p.Ile367=)
c.1611C>A (p.Ile537=)
c.1272C>A (p.Ile424=)
c.1620C>A (p.Ile540=)
c.1584C>A (p.Ile528=)
c.312C>A (p.Ile104=)
c.1701C>A (p.Ile567=)
c.1674C>A (p.Ile558=)
c.1578C>A (p.Ile526=)
c.1185C>A (p.Ile395=)
c.1647C>A (p.Ile549=)
c.1581C>A (p.Ile527=)
c.612C>A (p.Ile204=)
 gnomAD v4
20g.63413510A>CCA409643678KCNQ2c.1649T>G (p.Ile550Ser)
c.1703T>G (p.Ile568Ser)
c.1100T>G (p.Ile367Ser)
c.1610T>G (p.Ile537Ser)
c.1271T>G (p.Ile424Ser)
c.1619T>G (p.Ile540Ser)
c.1583T>G (p.Ile528Ser)
c.311T>G (p.Ile104Ser)
c.1700T>G (p.Ile567Ser)
c.1673T>G (p.Ile558Ser)
c.1577T>G (p.Ile526Ser)
c.1184T>G (p.Ile395Ser)
c.1646T>G (p.Ile549Ser)
c.1580T>G (p.Ile527Ser)
c.611T>G (p.Ile204Ser)
20g.63413510A>GCA409643679KCNQ2c.1649T>C (p.Ile550Thr)
c.1703T>C (p.Ile568Thr)
c.1100T>C (p.Ile367Thr)
c.1610T>C (p.Ile537Thr)
c.1271T>C (p.Ile424Thr)
c.1619T>C (p.Ile540Thr)
c.1583T>C (p.Ile528Thr)
c.311T>C (p.Ile104Thr)
c.1700T>C (p.Ile567Thr)
c.1673T>C (p.Ile558Thr)
c.1577T>C (p.Ile526Thr)
c.1184T>C (p.Ile395Thr)
c.1646T>C (p.Ile549Thr)
c.1580T>C (p.Ile527Thr)
c.611T>C (p.Ile204Thr)
20g.63413510A>TCA409643680KCNQ2c.1649T>A (p.Ile550Asn)
c.1703T>A (p.Ile568Asn)
c.1100T>A (p.Ile367Asn)
c.1610T>A (p.Ile537Asn)
c.1271T>A (p.Ile424Asn)
c.1619T>A (p.Ile540Asn)
c.1583T>A (p.Ile528Asn)
c.311T>A (p.Ile104Asn)
c.1700T>A (p.Ile567Asn)
c.1673T>A (p.Ile558Asn)
c.1577T>A (p.Ile526Asn)
c.1184T>A (p.Ile395Asn)
c.1646T>A (p.Ile549Asn)
c.1580T>A (p.Ile527Asn)
c.611T>A (p.Ile204Asn)
20g.63413511T>ACA409643688KCNQ2c.1648A>T (p.Ile550Phe)
c.1702A>T (p.Ile568Phe)
c.1099A>T (p.Ile367Phe)
c.1609A>T (p.Ile537Phe)
c.1270A>T (p.Ile424Phe)
c.1618A>T (p.Ile540Phe)
c.1582A>T (p.Ile528Phe)
c.310A>T (p.Ile104Phe)
c.1699A>T (p.Ile567Phe)
c.1672A>T (p.Ile558Phe)
c.1576A>T (p.Ile526Phe)
c.1183A>T (p.Ile395Phe)
c.1645A>T (p.Ile549Phe)
c.1579A>T (p.Ile527Phe)
c.610A>T (p.Ile204Phe)
20g.63413511T>CCA409643682KCNQ2c.1648A>G (p.Ile550Val)
c.1702A>G (p.Ile568Val)
c.1099A>G (p.Ile367Val)
c.1609A>G (p.Ile537Val)
c.1270A>G (p.Ile424Val)
c.1618A>G (p.Ile540Val)
c.1582A>G (p.Ile528Val)
c.310A>G (p.Ile104Val)
c.1699A>G (p.Ile567Val)
c.1672A>G (p.Ile558Val)
c.1576A>G (p.Ile526Val)
c.1183A>G (p.Ile395Val)
c.1645A>G (p.Ile549Val)
c.1579A>G (p.Ile527Val)
c.610A>G (p.Ile204Val)
20g.63413511T>GCA409643685KCNQ2c.1648A>C (p.Ile550Leu)
c.1702A>C (p.Ile568Leu)
c.1099A>C (p.Ile367Leu)
c.1609A>C (p.Ile537Leu)
c.1270A>C (p.Ile424Leu)
c.1618A>C (p.Ile540Leu)
c.1582A>C (p.Ile528Leu)
c.310A>C (p.Ile104Leu)
c.1699A>C (p.Ile567Leu)
c.1672A>C (p.Ile558Leu)
c.1576A>C (p.Ile526Leu)
c.1183A>C (p.Ile395Leu)
c.1645A>C (p.Ile549Leu)
c.1579A>C (p.Ile527Leu)
c.610A>C (p.Ile204Leu)
20g.63413512G>ACA511340058KCNQ2c.1647C>T (p.Val549=)
c.1701C>T (p.Val567=)
c.1098C>T (p.Val366=)
c.1608C>T (p.Val536=)
c.1269C>T (p.Val423=)
c.1617C>T (p.Val539=)
c.1581C>T (p.Val527=)
c.309C>T (p.Val103=)
c.1698C>T (p.Val566=)
c.1671C>T (p.Val557=)
c.1575C>T (p.Val525=)
c.1182C>T (p.Val394=)
c.1644C>T (p.Val548=)
c.1578C>T (p.Val526=)
c.609C>T (p.Val203=)
20g.63413512G>CCA511340060KCNQ2c.1647C>G (p.Val549=)
c.1701C>G (p.Val567=)
c.1098C>G (p.Val366=)
c.1608C>G (p.Val536=)
c.1269C>G (p.Val423=)
c.1617C>G (p.Val539=)
c.1581C>G (p.Val527=)
c.309C>G (p.Val103=)
c.1698C>G (p.Val566=)
c.1671C>G (p.Val557=)
c.1575C>G (p.Val525=)
c.1182C>G (p.Val394=)
c.1644C>G (p.Val548=)
c.1578C>G (p.Val526=)
c.609C>G (p.Val203=)
20g.63413512G>TCA511340061KCNQ2c.1647C>A (p.Val549=)
c.1701C>A (p.Val567=)
c.1098C>A (p.Val366=)
c.1608C>A (p.Val536=)
c.1269C>A (p.Val423=)
c.1617C>A (p.Val539=)
c.1581C>A (p.Val527=)
c.309C>A (p.Val103=)
c.1698C>A (p.Val566=)
c.1671C>A (p.Val557=)
c.1575C>A (p.Val525=)
c.1182C>A (p.Val394=)
c.1644C>A (p.Val548=)
c.1578C>A (p.Val526=)
c.609C>A (p.Val203=)
20g.63413513A=CA2374777966KCNQ2c.1646T= (p.Val549=)
c.1700T= (p.Val567=)
c.1097T= (p.Val366=)
c.1607T= (p.Val536=)
c.1268T= (p.Val423=)
c.1616T= (p.Val539=)
c.1580T= (p.Val527=)
c.308T= (p.Val103=)
c.1697T= (p.Val566=)
c.1670T= (p.Val557=)
c.1574T= (p.Val525=)
c.1181T= (p.Val394=)
c.1643T= (p.Val548=)
c.1577T= (p.Val526=)
c.608T= (p.Val203=)
20g.63413513A>CCA409643692KCNQ2c.1646T>G (p.Val549Gly)
c.1700T>G (p.Val567Gly)
c.1097T>G (p.Val366Gly)
c.1607T>G (p.Val536Gly)
c.1268T>G (p.Val423Gly)
c.1616T>G (p.Val539Gly)
c.1580T>G (p.Val527Gly)
c.308T>G (p.Val103Gly)
c.1697T>G (p.Val566Gly)
c.1670T>G (p.Val557Gly)
c.1574T>G (p.Val525Gly)
c.1181T>G (p.Val394Gly)
c.1643T>G (p.Val548Gly)
c.1577T>G (p.Val526Gly)
c.608T>G (p.Val203Gly)
20g.63413513A>GCA409643695KCNQ2c.1646T>C (p.Val549Ala)
c.1700T>C (p.Val567Ala)
c.1097T>C (p.Val366Ala)
c.1607T>C (p.Val536Ala)
c.1268T>C (p.Val423Ala)
c.1616T>C (p.Val539Ala)
c.1580T>C (p.Val527Ala)
c.308T>C (p.Val103Ala)
c.1697T>C (p.Val566Ala)
c.1670T>C (p.Val557Ala)
c.1574T>C (p.Val525Ala)
c.1181T>C (p.Val394Ala)
c.1643T>C (p.Val548Ala)
c.1577T>C (p.Val526Ala)
c.608T>C (p.Val203Ala)
20g.63413513A>TCA409643696KCNQ2c.1646T>A (p.Val549Asp)
c.1700T>A (p.Val567Asp)
c.1097T>A (p.Val366Asp)
c.1607T>A (p.Val536Asp)
c.1268T>A (p.Val423Asp)
c.1616T>A (p.Val539Asp)
c.1580T>A (p.Val527Asp)
c.308T>A (p.Val103Asp)
c.1697T>A (p.Val566Asp)
c.1670T>A (p.Val557Asp)
c.1574T>A (p.Val525Asp)
c.1181T>A (p.Val394Asp)
c.1643T>A (p.Val548Asp)
c.1577T>A (p.Val526Asp)
c.608T>A (p.Val203Asp)
 ClinVar dbSNP
20g.63413518_63413526delCA2580098456KCNQ2c.1638_1646del (p.Met547_Val549del)
c.1692_1700del (p.Met565_Val567del)
c.1089_1097del (p.Met364_Val366del)
c.1599_1607del (p.Met534_Val536del)
c.1260_1268del (p.Met421_Val423del)
c.1608_1616del (p.Met537_Val539del)
c.1572_1580del (p.Met525_Val527del)
c.300_308del (p.Met101_Val103del)
c.1689_1697del (p.Met564_Val566del)
c.1662_1670del (p.Met555_Val557del)
c.1566_1574del (p.Met523_Val525del)
c.1173_1181del (p.Met392_Val394del)
c.1635_1643del (p.Met546_Val548del)
c.1569_1577del (p.Met524_Val526del)
c.600_608del (p.Met201_Val203del)
 ClinVar
20g.63413514C>ACA409643699KCNQ2c.1645G>T (p.Val549Phe)
c.1699G>T (p.Val567Phe)
c.1096G>T (p.Val366Phe)
c.1606G>T (p.Val536Phe)
c.1267G>T (p.Val423Phe)
c.1615G>T (p.Val539Phe)
c.1579G>T (p.Val527Phe)
c.307G>T (p.Val103Phe)
c.1696G>T (p.Val566Phe)
c.1669G>T (p.Val557Phe)
c.1573G>T (p.Val525Phe)
c.1180G>T (p.Val394Phe)
c.1642G>T (p.Val548Phe)
c.1576G>T (p.Val526Phe)
c.607G>T (p.Val203Phe)
 COSMIC COSMIC COSMIC
20g.63413514C=CA2374777967KCNQ2c.1645G= (p.Val549=)
c.1699G= (p.Val567=)
c.1096G= (p.Val366=)
c.1606G= (p.Val536=)
c.1267G= (p.Val423=)
c.1615G= (p.Val539=)
c.1579G= (p.Val527=)
c.307G= (p.Val103=)
c.1696G= (p.Val566=)
c.1669G= (p.Val557=)
c.1573G= (p.Val525=)
c.1180G= (p.Val394=)
c.1642G= (p.Val548=)
c.1576G= (p.Val526=)
c.607G= (p.Val203=)
20g.63413514C>GCA409643703KCNQ2c.1645G>C (p.Val549Leu)
c.1699G>C (p.Val567Leu)
c.1096G>C (p.Val366Leu)
c.1606G>C (p.Val536Leu)
c.1267G>C (p.Val423Leu)
c.1615G>C (p.Val539Leu)
c.1579G>C (p.Val527Leu)
c.307G>C (p.Val103Leu)
c.1696G>C (p.Val566Leu)
c.1669G>C (p.Val557Leu)
c.1573G>C (p.Val525Leu)
c.1180G>C (p.Val394Leu)
c.1642G>C (p.Val548Leu)
c.1576G>C (p.Val526Leu)
c.607G>C (p.Val203Leu)
20g.63413514C>TCA9958325KCNQ2c.1645G>A (p.Val549Ile)
c.1699G>A (p.Val567Ile)
c.1096G>A (p.Val366Ile)
c.1606G>A (p.Val536Ile)
c.1267G>A (p.Val423Ile)
c.1615G>A (p.Val539Ile)
c.1579G>A (p.Val527Ile)
c.307G>A (p.Val103Ile)
c.1696G>A (p.Val566Ile)
c.1669G>A (p.Val557Ile)
c.1573G>A (p.Val525Ile)
c.1180G>A (p.Val394Ile)
c.1642G>A (p.Val548Ile)
c.1576G>A (p.Val526Ile)
c.607G>A (p.Val203Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63413515G>ACA9958326KCNQ2c.1644C>T (p.Asp548=)
c.1698C>T (p.Asp566=)
c.1095C>T (p.Asp365=)
c.1605C>T (p.Asp535=)
c.1266C>T (p.Asp422=)
c.1614C>T (p.Asp538=)
c.1578C>T (p.Asp526=)
c.306C>T (p.Asp102=)
c.1695C>T (p.Asp565=)
c.1668C>T (p.Asp556=)
c.1572C>T (p.Asp524=)
c.1179C>T (p.Asp393=)
c.1641C>T (p.Asp547=)
c.1575C>T (p.Asp525=)
c.606C>T (p.Asp202=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63413515G>CCA409643708KCNQ2c.1644C>G (p.Asp548Glu)
c.1698C>G (p.Asp566Glu)
c.1095C>G (p.Asp365Glu)
c.1605C>G (p.Asp535Glu)
c.1266C>G (p.Asp422Glu)
c.1614C>G (p.Asp538Glu)
c.1578C>G (p.Asp526Glu)
c.306C>G (p.Asp102Glu)
c.1695C>G (p.Asp565Glu)
c.1668C>G (p.Asp556Glu)
c.1572C>G (p.Asp524Glu)
c.1179C>G (p.Asp393Glu)
c.1641C>G (p.Asp547Glu)
c.1575C>G (p.Asp525Glu)
c.606C>G (p.Asp202Glu)
20g.63413515G=CA2374777968KCNQ2c.1644C= (p.Asp548=)
c.1698C= (p.Asp566=)
c.1095C= (p.Asp365=)
c.1605C= (p.Asp535=)
c.1266C= (p.Asp422=)
c.1614C= (p.Asp538=)
c.1578C= (p.Asp526=)
c.306C= (p.Asp102=)
c.1695C= (p.Asp565=)
c.1668C= (p.Asp556=)
c.1572C= (p.Asp524=)
c.1179C= (p.Asp393=)
c.1641C= (p.Asp547=)
c.1575C= (p.Asp525=)
c.606C= (p.Asp202=)
20g.63413515G>TCA409643705KCNQ2c.1644C>A (p.Asp548Glu)
c.1698C>A (p.Asp566Glu)
c.1095C>A (p.Asp365Glu)
c.1605C>A (p.Asp535Glu)
c.1266C>A (p.Asp422Glu)
c.1614C>A (p.Asp538Glu)
c.1578C>A (p.Asp526Glu)
c.306C>A (p.Asp102Glu)
c.1695C>A (p.Asp565Glu)
c.1668C>A (p.Asp556Glu)
c.1572C>A (p.Asp524Glu)
c.1179C>A (p.Asp393Glu)
c.1641C>A (p.Asp547Glu)
c.1575C>A (p.Asp525Glu)
c.606C>A (p.Asp202Glu)
20g.63413516T>ACA409643711KCNQ2c.1643A>T (p.Asp548Val)
c.1697A>T (p.Asp566Val)
c.1094A>T (p.Asp365Val)
c.1604A>T (p.Asp535Val)
c.1265A>T (p.Asp422Val)
c.1613A>T (p.Asp538Val)
c.1577A>T (p.Asp526Val)
c.305A>T (p.Asp102Val)
c.1694A>T (p.Asp565Val)
c.1667A>T (p.Asp556Val)
c.1571A>T (p.Asp524Val)
c.1178A>T (p.Asp393Val)
c.1640A>T (p.Asp547Val)
c.1574A>T (p.Asp525Val)
c.605A>T (p.Asp202Val)
20g.63413516T>CCA409643712KCNQ2c.1643A>G (p.Asp548Gly)
c.1697A>G (p.Asp566Gly)
c.1094A>G (p.Asp365Gly)
c.1604A>G (p.Asp535Gly)
c.1265A>G (p.Asp422Gly)
c.1613A>G (p.Asp538Gly)
c.1577A>G (p.Asp526Gly)
c.305A>G (p.Asp102Gly)
c.1694A>G (p.Asp565Gly)
c.1667A>G (p.Asp556Gly)
c.1571A>G (p.Asp524Gly)
c.1178A>G (p.Asp393Gly)
c.1640A>G (p.Asp547Gly)
c.1574A>G (p.Asp525Gly)
c.605A>G (p.Asp202Gly)
20g.63413516T>GCA409643714KCNQ2c.1643A>C (p.Asp548Ala)
c.1697A>C (p.Asp566Ala)
c.1094A>C (p.Asp365Ala)
c.1604A>C (p.Asp535Ala)
c.1265A>C (p.Asp422Ala)
c.1613A>C (p.Asp538Ala)
c.1577A>C (p.Asp526Ala)
c.305A>C (p.Asp102Ala)
c.1694A>C (p.Asp565Ala)
c.1667A>C (p.Asp556Ala)
c.1571A>C (p.Asp524Ala)
c.1178A>C (p.Asp393Ala)
c.1640A>C (p.Asp547Ala)
c.1574A>C (p.Asp525Ala)
c.605A>C (p.Asp202Ala)
20g.63413517C>ACA409643715KCNQ2c.1642G>T (p.Asp548Tyr)
c.1696G>T (p.Asp566Tyr)
c.1093G>T (p.Asp365Tyr)
c.1603G>T (p.Asp535Tyr)
c.1264G>T (p.Asp422Tyr)
c.1612G>T (p.Asp538Tyr)
c.1576G>T (p.Asp526Tyr)
c.304G>T (p.Asp102Tyr)
c.1693G>T (p.Asp565Tyr)
c.1666G>T (p.Asp556Tyr)
c.1570G>T (p.Asp524Tyr)
c.1177G>T (p.Asp393Tyr)
c.1639G>T (p.Asp547Tyr)
c.1573G>T (p.Asp525Tyr)
c.604G>T (p.Asp202Tyr)
20g.63413517C>GCA409643718KCNQ2c.1642G>C (p.Asp548His)
c.1696G>C (p.Asp566His)
c.1093G>C (p.Asp365His)
c.1603G>C (p.Asp535His)
c.1264G>C (p.Asp422His)
c.1612G>C (p.Asp538His)
c.1576G>C (p.Asp526His)
c.304G>C (p.Asp102His)
c.1693G>C (p.Asp565His)
c.1666G>C (p.Asp556His)
c.1570G>C (p.Asp524His)
c.1177G>C (p.Asp393His)
c.1639G>C (p.Asp547His)
c.1573G>C (p.Asp525His)
c.604G>C (p.Asp202His)
20g.63413517C>TCA409643719KCNQ2c.1642G>A (p.Asp548Asn)
c.1696G>A (p.Asp566Asn)
c.1093G>A (p.Asp365Asn)
c.1603G>A (p.Asp535Asn)
c.1264G>A (p.Asp422Asn)
c.1612G>A (p.Asp538Asn)
c.1576G>A (p.Asp526Asn)
c.304G>A (p.Asp102Asn)
c.1693G>A (p.Asp565Asn)
c.1666G>A (p.Asp556Asn)
c.1570G>A (p.Asp524Asn)
c.1177G>A (p.Asp393Asn)
c.1639G>A (p.Asp547Asn)
c.1573G>A (p.Asp525Asn)
c.604G>A (p.Asp202Asn)
20g.63413518C>ACA409643720KCNQ2c.1641G>T (p.Met547Ile)
c.1695G>T (p.Met565Ile)
c.1092G>T (p.Met364Ile)
c.1602G>T (p.Met534Ile)
c.1263G>T (p.Met421Ile)
c.1611G>T (p.Met537Ile)
c.1575G>T (p.Met525Ile)
c.303G>T (p.Met101Ile)
c.1692G>T (p.Met564Ile)
c.1665G>T (p.Met555Ile)
c.1569G>T (p.Met523Ile)
c.1176G>T (p.Met392Ile)
c.1638G>T (p.Met546Ile)
c.1572G>T (p.Met524Ile)
c.603G>T (p.Met201Ile)
20g.63413518C=CA2374777969KCNQ2c.1641G= (p.Met547=)
c.1695G= (p.Met565=)
c.1092G= (p.Met364=)
c.1602G= (p.Met534=)
c.1263G= (p.Met421=)
c.1611G= (p.Met537=)
c.1575G= (p.Met525=)
c.303G= (p.Met101=)
c.1692G= (p.Met564=)
c.1665G= (p.Met555=)
c.1569G= (p.Met523=)
c.1176G= (p.Met392=)
c.1638G= (p.Met546=)
c.1572G= (p.Met524=)
c.603G= (p.Met201=)
20g.63413518C>GCA409643721KCNQ2c.1641G>C (p.Met547Ile)
c.1695G>C (p.Met565Ile)
c.1092G>C (p.Met364Ile)
c.1602G>C (p.Met534Ile)
c.1263G>C (p.Met421Ile)
c.1611G>C (p.Met537Ile)
c.1575G>C (p.Met525Ile)
c.303G>C (p.Met101Ile)
c.1692G>C (p.Met564Ile)
c.1665G>C (p.Met555Ile)
c.1569G>C (p.Met523Ile)
c.1176G>C (p.Met392Ile)
c.1638G>C (p.Met546Ile)
c.1572G>C (p.Met524Ile)
c.603G>C (p.Met201Ile)
20g.63413518C>TCA409643722KCNQ2c.1641G>A (p.Met547Ile)
c.1695G>A (p.Met565Ile)
c.1092G>A (p.Met364Ile)
c.1602G>A (p.Met534Ile)
c.1263G>A (p.Met421Ile)
c.1611G>A (p.Met537Ile)
c.1575G>A (p.Met525Ile)
c.303G>A (p.Met101Ile)
c.1692G>A (p.Met564Ile)
c.1665G>A (p.Met555Ile)
c.1569G>A (p.Met523Ile)
c.1176G>A (p.Met392Ile)
c.1638G>A (p.Met546Ile)
c.1572G>A (p.Met524Ile)
c.603G>A (p.Met201Ile)
 ClinVar dbSNP
20g.63413519A>CCA409643725KCNQ2c.1640T>G (p.Met547Arg)
c.1694T>G (p.Met565Arg)
c.1091T>G (p.Met364Arg)
c.1601T>G (p.Met534Arg)
c.1262T>G (p.Met421Arg)
c.1610T>G (p.Met537Arg)
c.1574T>G (p.Met525Arg)
c.302T>G (p.Met101Arg)
c.1691T>G (p.Met564Arg)
c.1664T>G (p.Met555Arg)
c.1568T>G (p.Met523Arg)
c.1175T>G (p.Met392Arg)
c.1637T>G (p.Met546Arg)
c.1571T>G (p.Met524Arg)
c.602T>G (p.Met201Arg)
 gnomAD v4
20g.63413519A>GCA409643726KCNQ2c.1640T>C (p.Met547Thr)
c.1694T>C (p.Met565Thr)
c.1091T>C (p.Met364Thr)
c.1601T>C (p.Met534Thr)
c.1262T>C (p.Met421Thr)
c.1610T>C (p.Met537Thr)
c.1574T>C (p.Met525Thr)
c.302T>C (p.Met101Thr)
c.1691T>C (p.Met564Thr)
c.1664T>C (p.Met555Thr)
c.1568T>C (p.Met523Thr)
c.1175T>C (p.Met392Thr)
c.1637T>C (p.Met546Thr)
c.1571T>C (p.Met524Thr)
c.602T>C (p.Met201Thr)
20g.63413519A>TCA409643729KCNQ2c.1640T>A (p.Met547Lys)
c.1694T>A (p.Met565Lys)
c.1091T>A (p.Met364Lys)
c.1601T>A (p.Met534Lys)
c.1262T>A (p.Met421Lys)
c.1610T>A (p.Met537Lys)
c.1574T>A (p.Met525Lys)
c.302T>A (p.Met101Lys)
c.1691T>A (p.Met564Lys)
c.1664T>A (p.Met555Lys)
c.1568T>A (p.Met523Lys)
c.1175T>A (p.Met392Lys)
c.1637T>A (p.Met546Lys)
c.1571T>A (p.Met524Lys)
c.602T>A (p.Met201Lys)
20g.63413520T>ACA409643731KCNQ2c.1639A>T (p.Met547Leu)
c.1693A>T (p.Met565Leu)
c.1090A>T (p.Met364Leu)
c.1600A>T (p.Met534Leu)
c.1261A>T (p.Met421Leu)
c.1609A>T (p.Met537Leu)
c.1573A>T (p.Met525Leu)
c.301A>T (p.Met101Leu)
c.1690A>T (p.Met564Leu)
c.1663A>T (p.Met555Leu)
c.1567A>T (p.Met523Leu)
c.1174A>T (p.Met392Leu)
c.1636A>T (p.Met546Leu)
c.1570A>T (p.Met524Leu)
c.601A>T (p.Met201Leu)
20g.63413520T>CCA409643735KCNQ2c.1639A>G (p.Met547Val)
c.1693A>G (p.Met565Val)
c.1090A>G (p.Met364Val)
c.1600A>G (p.Met534Val)
c.1261A>G (p.Met421Val)
c.1609A>G (p.Met537Val)
c.1573A>G (p.Met525Val)
c.301A>G (p.Met101Val)
c.1690A>G (p.Met564Val)
c.1663A>G (p.Met555Val)
c.1567A>G (p.Met523Val)
c.1174A>G (p.Met392Val)
c.1636A>G (p.Met546Val)
c.1570A>G (p.Met524Val)
c.601A>G (p.Met201Val)
20g.63413520T>GCA409643732KCNQ2c.1639A>C (p.Met547Leu)
c.1693A>C (p.Met565Leu)
c.1090A>C (p.Met364Leu)
c.1600A>C (p.Met534Leu)
c.1261A>C (p.Met421Leu)
c.1609A>C (p.Met537Leu)
c.1573A>C (p.Met525Leu)
c.301A>C (p.Met101Leu)
c.1690A>C (p.Met564Leu)
c.1663A>C (p.Met555Leu)
c.1567A>C (p.Met523Leu)
c.1174A>C (p.Met392Leu)
c.1636A>C (p.Met546Leu)
c.1570A>C (p.Met524Leu)
c.601A>C (p.Met201Leu)
20g.63413521C>ACA511340068KCNQ2c.1638G>T (p.Val546=)
c.1692G>T (p.Val564=)
c.1089G>T (p.Val363=)
c.1599G>T (p.Val533=)
c.1260G>T (p.Val420=)
c.1608G>T (p.Val536=)
c.1572G>T (p.Val524=)
c.300G>T (p.Val100=)
c.1689G>T (p.Val563=)
c.1662G>T (p.Val554=)
c.1566G>T (p.Val522=)
c.1173G>T (p.Val391=)
c.1635G>T (p.Val545=)
c.1569G>T (p.Val523=)
c.600G>T (p.Val200=)
20g.63413521C>GCA511340069KCNQ2c.1638G>C (p.Val546=)
c.1692G>C (p.Val564=)
c.1089G>C (p.Val363=)
c.1599G>C (p.Val533=)
c.1260G>C (p.Val420=)
c.1608G>C (p.Val536=)
c.1572G>C (p.Val524=)
c.300G>C (p.Val100=)
c.1689G>C (p.Val563=)
c.1662G>C (p.Val554=)
c.1566G>C (p.Val522=)
c.1173G>C (p.Val391=)
c.1635G>C (p.Val545=)
c.1569G>C (p.Val523=)
c.600G>C (p.Val200=)
20g.63413521C>TCA511340070KCNQ2c.1638G>A (p.Val546=)
c.1692G>A (p.Val564=)
c.1089G>A (p.Val363=)
c.1599G>A (p.Val533=)
c.1260G>A (p.Val420=)
c.1608G>A (p.Val536=)
c.1572G>A (p.Val524=)
c.300G>A (p.Val100=)
c.1689G>A (p.Val563=)
c.1662G>A (p.Val554=)
c.1566G>A (p.Val522=)
c.1173G>A (p.Val391=)
c.1635G>A (p.Val545=)
c.1569G>A (p.Val523=)
c.600G>A (p.Val200=)
20g.63413522A>CCA409643736KCNQ2c.1637T>G (p.Val546Gly)
c.1691T>G (p.Val564Gly)
c.1088T>G (p.Val363Gly)
c.1598T>G (p.Val533Gly)
c.1259T>G (p.Val420Gly)
c.1607T>G (p.Val536Gly)
c.1571T>G (p.Val524Gly)
c.299T>G (p.Val100Gly)
c.1688T>G (p.Val563Gly)
c.1661T>G (p.Val554Gly)
c.1565T>G (p.Val522Gly)
c.1172T>G (p.Val391Gly)
c.1634T>G (p.Val545Gly)
c.1568T>G (p.Val523Gly)
c.599T>G (p.Val200Gly)
20g.63413522A>GCA409643737KCNQ2c.1637T>C (p.Val546Ala)
c.1691T>C (p.Val564Ala)
c.1088T>C (p.Val363Ala)
c.1598T>C (p.Val533Ala)
c.1259T>C (p.Val420Ala)
c.1607T>C (p.Val536Ala)
c.1571T>C (p.Val524Ala)
c.299T>C (p.Val100Ala)
c.1688T>C (p.Val563Ala)
c.1661T>C (p.Val554Ala)
c.1565T>C (p.Val522Ala)
c.1172T>C (p.Val391Ala)
c.1634T>C (p.Val545Ala)
c.1568T>C (p.Val523Ala)
c.599T>C (p.Val200Ala)
20g.63413522A>TCA409643738KCNQ2c.1637T>A (p.Val546Glu)
c.1691T>A (p.Val564Glu)
c.1088T>A (p.Val363Glu)
c.1598T>A (p.Val533Glu)
c.1259T>A (p.Val420Glu)
c.1607T>A (p.Val536Glu)
c.1571T>A (p.Val524Glu)
c.299T>A (p.Val100Glu)
c.1688T>A (p.Val563Glu)
c.1661T>A (p.Val554Glu)
c.1565T>A (p.Val522Glu)
c.1172T>A (p.Val391Glu)
c.1634T>A (p.Val545Glu)
c.1568T>A (p.Val523Glu)
c.599T>A (p.Val200Glu)
20g.63413523C>ACA409643740KCNQ2c.1636G>T (p.Val546Leu)
c.1690G>T (p.Val564Leu)
c.1087G>T (p.Val363Leu)
c.1597G>T (p.Val533Leu)
c.1258G>T (p.Val420Leu)
c.1606G>T (p.Val536Leu)
c.1570G>T (p.Val524Leu)
c.298G>T (p.Val100Leu)
c.1687G>T (p.Val563Leu)
c.1660G>T (p.Val554Leu)
c.1564G>T (p.Val522Leu)
c.1171G>T (p.Val391Leu)
c.1633G>T (p.Val545Leu)
c.1567G>T (p.Val523Leu)
c.598G>T (p.Val200Leu)
20g.63413523C=CA2374777970KCNQ2c.1636G= (p.Val546=)
c.1690G= (p.Val564=)
c.1087G= (p.Val363=)
c.1597G= (p.Val533=)
c.1258G= (p.Val420=)
c.1606G= (p.Val536=)
c.1570G= (p.Val524=)
c.298G= (p.Val100=)
c.1687G= (p.Val563=)
c.1660G= (p.Val554=)
c.1564G= (p.Val522=)
c.1171G= (p.Val391=)
c.1633G= (p.Val545=)
c.1567G= (p.Val523=)
c.598G= (p.Val200=)
20g.63413523C>GCA409643741KCNQ2c.1636G>C (p.Val546Leu)
c.1690G>C (p.Val564Leu)
c.1087G>C (p.Val363Leu)
c.1597G>C (p.Val533Leu)
c.1258G>C (p.Val420Leu)
c.1606G>C (p.Val536Leu)
c.1570G>C (p.Val524Leu)
c.298G>C (p.Val100Leu)
c.1687G>C (p.Val563Leu)
c.1660G>C (p.Val554Leu)
c.1564G>C (p.Val522Leu)
c.1171G>C (p.Val391Leu)
c.1633G>C (p.Val545Leu)
c.1567G>C (p.Val523Leu)
c.598G>C (p.Val200Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.63413523C>TCA9958327KCNQ2c.1636G>A (p.Val546Met)
c.1690G>A (p.Val564Met)
c.1087G>A (p.Val363Met)
c.1597G>A (p.Val533Met)
c.1258G>A (p.Val420Met)
c.1606G>A (p.Val536Met)
c.1570G>A (p.Val524Met)
c.298G>A (p.Val100Met)
c.1687G>A (p.Val563Met)
c.1660G>A (p.Val554Met)
c.1564G>A (p.Val522Met)
c.1171G>A (p.Val391Met)
c.1633G>A (p.Val545Met)
c.1567G>A (p.Val523Met)
c.598G>A (p.Val200Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63413525_63413535delCA2653798388KCNQ2c.1626_1636del (p.Pro543AspfsTer19)
c.1680_1690del (p.Pro561AspfsTer19)
c.1077_1087del (p.Pro360AspfsTer19)
c.1587_1597del (p.Pro530AspfsTer19)
c.1248_1258del (p.Pro417AspfsTer19)
c.1596_1606del (p.Pro533AspfsTer19)
c.1560_1570del (p.Pro521AspfsTer19)
c.288_298del (p.Pro97AspfsTer19)
c.1677_1687del (p.Pro560AspfsTer19)
c.1650_1660del (p.Pro551AspfsTer19)
c.1554_1564del (p.Pro519AspfsTer19)
c.1161_1171del (p.Pro388AspfsTer19)
c.1623_1633del (p.Pro542AspfsTer19)
c.1557_1567del (p.Pro520AspfsTer19)
c.588_598del (p.Pro197AspfsTer19)
 gnomAD v4
20g.63413524G>ACA291801KCNQ2c.1635C>T (p.Asp545=)
c.1689C>T (p.Asp563=)
c.1086C>T (p.Asp362=)
c.1596C>T (p.Asp532=)
c.1257C>T (p.Asp419=)
c.1605C>T (p.Asp535=)
c.1569C>T (p.Asp523=)
c.297C>T (p.Asp99=)
c.1686C>T (p.Asp562=)
c.1659C>T (p.Asp553=)
c.1563C>T (p.Asp521=)
c.1170C>T (p.Asp390=)
c.1632C>T (p.Asp544=)
c.1566C>T (p.Asp522=)
c.597C>T (p.Asp199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63413524G>CCA10654782KCNQ2c.1635C>G (p.Asp545Glu)
c.1689C>G (p.Asp563Glu)
c.1086C>G (p.Asp362Glu)
c.1596C>G (p.Asp532Glu)
c.1257C>G (p.Asp419Glu)
c.1605C>G (p.Asp535Glu)
c.1569C>G (p.Asp523Glu)
c.297C>G (p.Asp99Glu)
c.1686C>G (p.Asp562Glu)
c.1659C>G (p.Asp553Glu)
c.1563C>G (p.Asp521Glu)
c.1170C>G (p.Asp390Glu)
c.1632C>G (p.Asp544Glu)
c.1566C>G (p.Asp522Glu)
c.597C>G (p.Asp199Glu)
 ClinVar dbSNP
20g.63413524G=CA2374777971KCNQ2c.1635C= (p.Asp545=)
c.1689C= (p.Asp563=)
c.1086C= (p.Asp362=)
c.1596C= (p.Asp532=)
c.1257C= (p.Asp419=)
c.1605C= (p.Asp535=)
c.1569C= (p.Asp523=)
c.297C= (p.Asp99=)
c.1686C= (p.Asp562=)
c.1659C= (p.Asp553=)
c.1563C= (p.Asp521=)
c.1170C= (p.Asp390=)
c.1632C= (p.Asp544=)
c.1566C= (p.Asp522=)
c.597C= (p.Asp199=)
20g.63413524G>TCA409643747KCNQ2c.1635C>A (p.Asp545Glu)
c.1689C>A (p.Asp563Glu)
c.1086C>A (p.Asp362Glu)
c.1596C>A (p.Asp532Glu)
c.1257C>A (p.Asp419Glu)
c.1605C>A (p.Asp535Glu)
c.1569C>A (p.Asp523Glu)
c.297C>A (p.Asp99Glu)
c.1686C>A (p.Asp562Glu)
c.1659C>A (p.Asp553Glu)
c.1563C>A (p.Asp521Glu)
c.1170C>A (p.Asp390Glu)
c.1632C>A (p.Asp544Glu)
c.1566C>A (p.Asp522Glu)
c.597C>A (p.Asp199Glu)
 ClinVar COSMIC COSMIC COSMIC
20g.63413524_63413525delinsTGCA2580098457KCNQ2c.1634_1635delinsCA (p.Asp545Ala)
c.1688_1689delinsCA (p.Asp563Ala)
c.1085_1086delinsCA (p.Asp362Ala)
c.1595_1596delinsCA (p.Asp532Ala)
c.1256_1257delinsCA (p.Asp419Ala)
c.1604_1605delinsCA (p.Asp535Ala)
c.1568_1569delinsCA (p.Asp523Ala)
c.296_297delinsCA (p.Asp99Ala)
c.1685_1686delinsCA (p.Asp562Ala)
c.1658_1659delinsCA (p.Asp553Ala)
c.1562_1563delinsCA (p.Asp521Ala)
c.1169_1170delinsCA (p.Asp390Ala)
c.1631_1632delinsCA (p.Asp544Ala)
c.1565_1566delinsCA (p.Asp522Ala)
c.596_597delinsCA (p.Asp199Ala)
 ClinVar
20g.63413525T>ACA409643751KCNQ2c.1634A>T (p.Asp545Val)
c.1688A>T (p.Asp563Val)
c.1085A>T (p.Asp362Val)
c.1595A>T (p.Asp532Val)
c.1256A>T (p.Asp419Val)
c.1604A>T (p.Asp535Val)
c.1568A>T (p.Asp523Val)
c.296A>T (p.Asp99Val)
c.1685A>T (p.Asp562Val)
c.1658A>T (p.Asp553Val)
c.1562A>T (p.Asp521Val)
c.1169A>T (p.Asp390Val)
c.1631A>T (p.Asp544Val)
c.1565A>T (p.Asp522Val)
c.596A>T (p.Asp199Val)
20g.63413525T>CCA409643754KCNQ2c.1634A>G (p.Asp545Gly)
c.1688A>G (p.Asp563Gly)
c.1085A>G (p.Asp362Gly)
c.1595A>G (p.Asp532Gly)
c.1256A>G (p.Asp419Gly)
c.1604A>G (p.Asp535Gly)
c.1568A>G (p.Asp523Gly)
c.296A>G (p.Asp99Gly)
c.1685A>G (p.Asp562Gly)
c.1658A>G (p.Asp553Gly)
c.1562A>G (p.Asp521Gly)
c.1169A>G (p.Asp390Gly)
c.1631A>G (p.Asp544Gly)
c.1565A>G (p.Asp522Gly)
c.596A>G (p.Asp199Gly)
 ClinVar dbSNP
20g.63413525T>GCA409643761KCNQ2c.1634A>C (p.Asp545Ala)
c.1688A>C (p.Asp563Ala)
c.1085A>C (p.Asp362Ala)
c.1595A>C (p.Asp532Ala)
c.1256A>C (p.Asp419Ala)
c.1604A>C (p.Asp535Ala)
c.1568A>C (p.Asp523Ala)
c.296A>C (p.Asp99Ala)
c.1685A>C (p.Asp562Ala)
c.1658A>C (p.Asp553Ala)
c.1562A>C (p.Asp521Ala)
c.1169A>C (p.Asp390Ala)
c.1631A>C (p.Asp544Ala)
c.1565A>C (p.Asp522Ala)
c.596A>C (p.Asp199Ala)
20g.63413525T=CA2374777972KCNQ2c.1634A= (p.Asp545=)
c.1688A= (p.Asp563=)
c.1085A= (p.Asp362=)
c.1595A= (p.Asp532=)
c.1256A= (p.Asp419=)
c.1604A= (p.Asp535=)
c.1568A= (p.Asp523=)
c.296A= (p.Asp99=)
c.1685A= (p.Asp562=)
c.1658A= (p.Asp553=)
c.1562A= (p.Asp521=)
c.1169A= (p.Asp390=)
c.1631A= (p.Asp544=)
c.1565A= (p.Asp522=)
c.596A= (p.Asp199=)
20g.63413525_63413537delinsGTGGCA2695230077KCNQ2c.1622_1634delinsCCAC (p.Leu541_Asp545delinsProThr)
c.1676_1688delinsCCAC (p.Leu559_Asp563delinsProThr)
c.1073_1085delinsCCAC (p.Leu358_Asp362delinsProThr)
c.1583_1595delinsCCAC (p.Leu528_Asp532delinsProThr)
c.1244_1256delinsCCAC (p.Leu415_Asp419delinsProThr)
c.1592_1604delinsCCAC (p.Leu531_Asp535delinsProThr)
c.1556_1568delinsCCAC (p.Leu519_Asp523delinsProThr)
c.284_296delinsCCAC (p.Leu95_Asp99delinsProThr)
c.1673_1685delinsCCAC (p.Leu558_Asp562delinsProThr)
c.1646_1658delinsCCAC (p.Leu549_Asp553delinsProThr)
c.1550_1562delinsCCAC (p.Leu517_Asp521delinsProThr)
c.1157_1169delinsCCAC (p.Leu386_Asp390delinsProThr)
c.1619_1631delinsCCAC (p.Leu540_Asp544delinsProThr)
c.1553_1565delinsCCAC (p.Leu518_Asp522delinsProThr)
c.584_596delinsCCAC (p.Leu195_Asp199delinsProThr)
20g.63413526C>ACA409643764KCNQ2c.1633G>T (p.Asp545Tyr)
c.1687G>T (p.Asp563Tyr)
c.1084G>T (p.Asp362Tyr)
c.1594G>T (p.Asp532Tyr)
c.1255G>T (p.Asp419Tyr)
c.1603G>T (p.Asp535Tyr)
c.1567G>T (p.Asp523Tyr)
c.295G>T (p.Asp99Tyr)
c.1684G>T (p.Asp562Tyr)
c.1657G>T (p.Asp553Tyr)
c.1561G>T (p.Asp521Tyr)
c.1168G>T (p.Asp390Tyr)
c.1630G>T (p.Asp544Tyr)
c.1564G>T (p.Asp522Tyr)
c.595G>T (p.Asp199Tyr)
 ClinVar dbSNP
20g.63413526C=CA2374777973KCNQ2c.1633G= (p.Asp545=)
c.1687G= (p.Asp563=)
c.1084G= (p.Asp362=)
c.1594G= (p.Asp532=)
c.1255G= (p.Asp419=)
c.1603G= (p.Asp535=)
c.1567G= (p.Asp523=)
c.295G= (p.Asp99=)
c.1684G= (p.Asp562=)
c.1657G= (p.Asp553=)
c.1561G= (p.Asp521=)
c.1168G= (p.Asp390=)
c.1630G= (p.Asp544=)
c.1564G= (p.Asp522=)
c.595G= (p.Asp199=)
20g.63413526C>GCA409643765KCNQ2c.1633G>C (p.Asp545His)
c.1687G>C (p.Asp563His)
c.1084G>C (p.Asp362His)
c.1594G>C (p.Asp532His)
c.1255G>C (p.Asp419His)
c.1603G>C (p.Asp535His)
c.1567G>C (p.Asp523His)
c.295G>C (p.Asp99His)
c.1684G>C (p.Asp562His)
c.1657G>C (p.Asp553His)
c.1561G>C (p.Asp521His)
c.1168G>C (p.Asp390His)
c.1630G>C (p.Asp544His)
c.1564G>C (p.Asp522His)
c.595G>C (p.Asp199His)
20g.63413526C>TCA315477KCNQ2c.1633G>A (p.Asp545Asn)
c.1687G>A (p.Asp563Asn)
c.1084G>A (p.Asp362Asn)
c.1594G>A (p.Asp532Asn)
c.1255G>A (p.Asp419Asn)
c.1603G>A (p.Asp535Asn)
c.1567G>A (p.Asp523Asn)
c.295G>A (p.Asp99Asn)
c.1684G>A (p.Asp562Asn)
c.1657G>A (p.Asp553Asn)
c.1561G>A (p.Asp521Asn)
c.1168G>A (p.Asp390Asn)
c.1630G>A (p.Asp544Asn)
c.1564G>A (p.Asp522Asn)
c.595G>A (p.Asp199Asn)
 ClinVar dbSNP COSMIC
20g.63413527G>ACA511340076KCNQ2c.1632C>T (p.Tyr544=)
c.1686C>T (p.Tyr562=)
c.1083C>T (p.Tyr361=)
c.1593C>T (p.Tyr531=)
c.1254C>T (p.Tyr418=)
c.1602C>T (p.Tyr534=)
c.1566C>T (p.Tyr522=)
c.294C>T (p.Tyr98=)
c.1683C>T (p.Tyr561=)
c.1656C>T (p.Tyr552=)
c.1560C>T (p.Tyr520=)
c.1167C>T (p.Tyr389=)
c.1629C>T (p.Tyr543=)
c.1563C>T (p.Tyr521=)
c.594C>T (p.Tyr198=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63413527G>CCA409643766KCNQ2c.1632C>G (p.Tyr544Ter)
c.1686C>G (p.Tyr562Ter)
c.1083C>G (p.Tyr361Ter)
c.1593C>G (p.Tyr531Ter)
c.1254C>G (p.Tyr418Ter)
c.1602C>G (p.Tyr534Ter)
c.1566C>G (p.Tyr522Ter)
c.294C>G (p.Tyr98Ter)
c.1683C>G (p.Tyr561Ter)
c.1656C>G (p.Tyr552Ter)
c.1560C>G (p.Tyr520Ter)
c.1167C>G (p.Tyr389Ter)
c.1629C>G (p.Tyr543Ter)
c.1563C>G (p.Tyr521Ter)
c.594C>G (p.Tyr198Ter)
 ClinVar dbSNP
20g.63413527G=CA2374777974KCNQ2c.1632C= (p.Tyr544=)
c.1686C= (p.Tyr562=)
c.1083C= (p.Tyr361=)
c.1593C= (p.Tyr531=)
c.1254C= (p.Tyr418=)
c.1602C= (p.Tyr534=)
c.1566C= (p.Tyr522=)
c.294C= (p.Tyr98=)
c.1683C= (p.Tyr561=)
c.1656C= (p.Tyr552=)
c.1560C= (p.Tyr520=)
c.1167C= (p.Tyr389=)
c.1629C= (p.Tyr543=)
c.1563C= (p.Tyr521=)
c.594C= (p.Tyr198=)
20g.63413527G>TCA16608020KCNQ2c.1632C>A (p.Tyr544Ter)
c.1686C>A (p.Tyr562Ter)
c.1083C>A (p.Tyr361Ter)
c.1593C>A (p.Tyr531Ter)
c.1254C>A (p.Tyr418Ter)
c.1602C>A (p.Tyr534Ter)
c.1566C>A (p.Tyr522Ter)
c.294C>A (p.Tyr98Ter)
c.1683C>A (p.Tyr561Ter)
c.1656C>A (p.Tyr552Ter)
c.1560C>A (p.Tyr520Ter)
c.1167C>A (p.Tyr389Ter)
c.1629C>A (p.Tyr543Ter)
c.1563C>A (p.Tyr521Ter)
c.594C>A (p.Tyr198Ter)
 ClinVar dbSNP
20g.63413528T>ACA409643769KCNQ2c.1631A>T (p.Tyr544Phe)
c.1685A>T (p.Tyr562Phe)
c.1082A>T (p.Tyr361Phe)
c.1592A>T (p.Tyr531Phe)
c.1253A>T (p.Tyr418Phe)
c.1601A>T (p.Tyr534Phe)
c.1565A>T (p.Tyr522Phe)
c.293A>T (p.Tyr98Phe)
c.1682A>T (p.Tyr561Phe)
c.1655A>T (p.Tyr552Phe)
c.1559A>T (p.Tyr520Phe)
c.1166A>T (p.Tyr389Phe)
c.1628A>T (p.Tyr543Phe)
c.1562A>T (p.Tyr521Phe)
c.593A>T (p.Tyr198Phe)
20g.63413528T>CCA409643771KCNQ2c.1631A>G (p.Tyr544Cys)
c.1685A>G (p.Tyr562Cys)
c.1082A>G (p.Tyr361Cys)
c.1592A>G (p.Tyr531Cys)
c.1253A>G (p.Tyr418Cys)
c.1601A>G (p.Tyr534Cys)
c.1565A>G (p.Tyr522Cys)
c.293A>G (p.Tyr98Cys)
c.1682A>G (p.Tyr561Cys)
c.1655A>G (p.Tyr552Cys)
c.1559A>G (p.Tyr520Cys)
c.1166A>G (p.Tyr389Cys)
c.1628A>G (p.Tyr543Cys)
c.1562A>G (p.Tyr521Cys)
c.593A>G (p.Tyr198Cys)
20g.63413528T>GCA409643775KCNQ2c.1631A>C (p.Tyr544Ser)
c.1685A>C (p.Tyr562Ser)
c.1082A>C (p.Tyr361Ser)
c.1592A>C (p.Tyr531Ser)
c.1253A>C (p.Tyr418Ser)
c.1601A>C (p.Tyr534Ser)
c.1565A>C (p.Tyr522Ser)
c.293A>C (p.Tyr98Ser)
c.1682A>C (p.Tyr561Ser)
c.1655A>C (p.Tyr552Ser)
c.1559A>C (p.Tyr520Ser)
c.1166A>C (p.Tyr389Ser)
c.1628A>C (p.Tyr543Ser)
c.1562A>C (p.Tyr521Ser)
c.593A>C (p.Tyr198Ser)
20g.63413528T=CA2374777975KCNQ2c.1631A= (p.Tyr544=)
c.1685A= (p.Tyr562=)
c.1082A= (p.Tyr361=)
c.1592A= (p.Tyr531=)
c.1253A= (p.Tyr418=)
c.1601A= (p.Tyr534=)
c.1565A= (p.Tyr522=)
c.293A= (p.Tyr98=)
c.1682A= (p.Tyr561=)
c.1655A= (p.Tyr552=)
c.1559A= (p.Tyr520=)
c.1166A= (p.Tyr389=)
c.1628A= (p.Tyr543=)
c.1562A= (p.Tyr521=)
c.593A= (p.Tyr198=)
20g.63413529A>CCA409643779KCNQ2c.1630T>G (p.Tyr544Asp)
c.1684T>G (p.Tyr562Asp)
c.1081T>G (p.Tyr361Asp)
c.1591T>G (p.Tyr531Asp)
c.1252T>G (p.Tyr418Asp)
c.1600T>G (p.Tyr534Asp)
c.1564T>G (p.Tyr522Asp)
c.292T>G (p.Tyr98Asp)
c.1681T>G (p.Tyr561Asp)
c.1654T>G (p.Tyr552Asp)
c.1558T>G (p.Tyr520Asp)
c.1165T>G (p.Tyr389Asp)
c.1627T>G (p.Tyr543Asp)
c.1561T>G (p.Tyr521Asp)
c.592T>G (p.Tyr198Asp)
20g.63413529A>GCA409643792KCNQ2c.1630T>C (p.Tyr544His)
c.1684T>C (p.Tyr562His)
c.1081T>C (p.Tyr361His)
c.1591T>C (p.Tyr531His)
c.1252T>C (p.Tyr418His)
c.1600T>C (p.Tyr534His)
c.1564T>C (p.Tyr522His)
c.292T>C (p.Tyr98His)
c.1681T>C (p.Tyr561His)
c.1654T>C (p.Tyr552His)
c.1558T>C (p.Tyr520His)
c.1165T>C (p.Tyr389His)
c.1627T>C (p.Tyr543His)
c.1561T>C (p.Tyr521His)
c.592T>C (p.Tyr198His)
20g.63413529A>TCA409643783KCNQ2c.1630T>A (p.Tyr544Asn)
c.1684T>A (p.Tyr562Asn)
c.1081T>A (p.Tyr361Asn)
c.1591T>A (p.Tyr531Asn)
c.1252T>A (p.Tyr418Asn)
c.1600T>A (p.Tyr534Asn)
c.1564T>A (p.Tyr522Asn)
c.292T>A (p.Tyr98Asn)
c.1681T>A (p.Tyr561Asn)
c.1654T>A (p.Tyr552Asn)
c.1558T>A (p.Tyr520Asn)
c.1165T>A (p.Tyr389Asn)
c.1627T>A (p.Tyr543Asn)
c.1561T>A (p.Tyr521Asn)
c.592T>A (p.Tyr198Asn)
 ClinVar
20g.63413529_63413533dupCA340675KCNQ2c.1626_1630dup (p.Tyr544CysfsTer5)
c.1680_1684dup (p.Tyr562CysfsTer5)
c.1077_1081dup (p.Tyr361CysfsTer5)
c.1587_1591dup (p.Tyr531CysfsTer5)
c.1248_1252dup (p.Tyr418CysfsTer5)
c.1596_1600dup (p.Tyr534CysfsTer5)
c.1560_1564dup (p.Tyr522CysfsTer5)
c.288_292dup (p.Tyr98CysfsTer5)
c.1677_1681dup (p.Tyr561CysfsTer5)
c.1650_1654dup (p.Tyr552CysfsTer5)
c.1554_1558dup (p.Tyr520CysfsTer5)
c.1161_1165dup (p.Tyr389CysfsTer5)
c.1623_1627dup (p.Tyr543CysfsTer5)
c.1557_1561dup (p.Tyr521CysfsTer5)
c.588_592dup (p.Tyr198CysfsTer5)
 ClinVar dbSNP
20g.63413530G>ACA511340077KCNQ2c.1629C>T (p.Pro543=)
c.1683C>T (p.Pro561=)
c.1080C>T (p.Pro360=)
c.1590C>T (p.Pro530=)
c.1251C>T (p.Pro417=)
c.1599C>T (p.Pro533=)
c.1563C>T (p.Pro521=)
c.291C>T (p.Pro97=)
c.1680C>T (p.Pro560=)
c.1653C>T (p.Pro551=)
c.1557C>T (p.Pro519=)
c.1164C>T (p.Pro388=)
c.1626C>T (p.Pro542=)
c.1560C>T (p.Pro520=)
c.591C>T (p.Pro197=)
 dbSNP
20g.63413530G>CCA511340078KCNQ2c.1629C>G (p.Pro543=)
c.1683C>G (p.Pro561=)
c.1080C>G (p.Pro360=)
c.1590C>G (p.Pro530=)
c.1251C>G (p.Pro417=)
c.1599C>G (p.Pro533=)
c.1563C>G (p.Pro521=)
c.291C>G (p.Pro97=)
c.1680C>G (p.Pro560=)
c.1653C>G (p.Pro551=)
c.1557C>G (p.Pro519=)
c.1164C>G (p.Pro388=)
c.1626C>G (p.Pro542=)
c.1560C>G (p.Pro520=)
c.591C>G (p.Pro197=)
 COSMIC COSMIC COSMIC
20g.63413530G=CA2374777976KCNQ2c.1629C= (p.Pro543=)
c.1683C= (p.Pro561=)
c.1080C= (p.Pro360=)
c.1590C= (p.Pro530=)
c.1251C= (p.Pro417=)
c.1599C= (p.Pro533=)
c.1563C= (p.Pro521=)
c.291C= (p.Pro97=)
c.1680C= (p.Pro560=)
c.1653C= (p.Pro551=)
c.1557C= (p.Pro519=)
c.1164C= (p.Pro388=)
c.1626C= (p.Pro542=)
c.1560C= (p.Pro520=)
c.591C= (p.Pro197=)
20g.63413530G>TCA511340079KCNQ2c.1629C>A (p.Pro543=)
c.1683C>A (p.Pro561=)
c.1080C>A (p.Pro360=)
c.1590C>A (p.Pro530=)
c.1251C>A (p.Pro417=)
c.1599C>A (p.Pro533=)
c.1563C>A (p.Pro521=)
c.291C>A (p.Pro97=)
c.1680C>A (p.Pro560=)
c.1653C>A (p.Pro551=)
c.1557C>A (p.Pro519=)
c.1164C>A (p.Pro388=)
c.1626C>A (p.Pro542=)
c.1560C>A (p.Pro520=)
c.591C>A (p.Pro197=)
20g.63413531G>ACA315474KCNQ2c.1628C>T (p.Pro543Leu)
c.1682C>T (p.Pro561Leu)
c.1079C>T (p.Pro360Leu)
c.1589C>T (p.Pro530Leu)
c.1250C>T (p.Pro417Leu)
c.1598C>T (p.Pro533Leu)
c.1562C>T (p.Pro521Leu)
c.290C>T (p.Pro97Leu)
c.1679C>T (p.Pro560Leu)
c.1652C>T (p.Pro551Leu)
c.1556C>T (p.Pro519Leu)
c.1163C>T (p.Pro388Leu)
c.1625C>T (p.Pro542Leu)
c.1559C>T (p.Pro520Leu)
c.590C>T (p.Pro197Leu)
 ClinVar dbSNP
20g.63413531G>CCA409643798KCNQ2c.1628C>G (p.Pro543Arg)
c.1682C>G (p.Pro561Arg)
c.1079C>G (p.Pro360Arg)
c.1589C>G (p.Pro530Arg)
c.1250C>G (p.Pro417Arg)
c.1598C>G (p.Pro533Arg)
c.1562C>G (p.Pro521Arg)
c.290C>G (p.Pro97Arg)
c.1679C>G (p.Pro560Arg)
c.1652C>G (p.Pro551Arg)
c.1556C>G (p.Pro519Arg)
c.1163C>G (p.Pro388Arg)
c.1625C>G (p.Pro542Arg)
c.1559C>G (p.Pro520Arg)
c.590C>G (p.Pro197Arg)
 ClinVar dbSNP
20g.63413531G=CA2374777977KCNQ2c.1628C= (p.Pro543=)
c.1682C= (p.Pro561=)
c.1079C= (p.Pro360=)
c.1589C= (p.Pro530=)
c.1250C= (p.Pro417=)
c.1598C= (p.Pro533=)
c.1562C= (p.Pro521=)
c.290C= (p.Pro97=)
c.1679C= (p.Pro560=)
c.1652C= (p.Pro551=)
c.1556C= (p.Pro519=)
c.1163C= (p.Pro388=)
c.1625C= (p.Pro542=)
c.1559C= (p.Pro520=)
c.590C= (p.Pro197=)
20g.63413531G>TCA409643800KCNQ2c.1628C>A (p.Pro543His)
c.1682C>A (p.Pro561His)
c.1079C>A (p.Pro360His)
c.1589C>A (p.Pro530His)
c.1250C>A (p.Pro417His)
c.1598C>A (p.Pro533His)
c.1562C>A (p.Pro521His)
c.290C>A (p.Pro97His)
c.1679C>A (p.Pro560His)
c.1652C>A (p.Pro551His)
c.1556C>A (p.Pro519His)
c.1163C>A (p.Pro388His)
c.1625C>A (p.Pro542His)
c.1559C>A (p.Pro520His)
c.590C>A (p.Pro197His)
20g.63413532G>ACA409643810KCNQ2c.1627C>T (p.Pro543Ser)
c.1681C>T (p.Pro561Ser)
c.1078C>T (p.Pro360Ser)
c.1588C>T (p.Pro530Ser)
c.1249C>T (p.Pro417Ser)
c.1597C>T (p.Pro533Ser)
c.1561C>T (p.Pro521Ser)
c.289C>T (p.Pro97Ser)
c.1678C>T (p.Pro560Ser)
c.1651C>T (p.Pro551Ser)
c.1555C>T (p.Pro519Ser)
c.1162C>T (p.Pro388Ser)
c.1624C>T (p.Pro542Ser)
c.1558C>T (p.Pro520Ser)
c.589C>T (p.Pro197Ser)
 ClinVar dbSNP
20g.63413532G>CCA409643806KCNQ2c.1627C>G (p.Pro543Ala)
c.1681C>G (p.Pro561Ala)
c.1078C>G (p.Pro360Ala)
c.1588C>G (p.Pro530Ala)
c.1249C>G (p.Pro417Ala)
c.1597C>G (p.Pro533Ala)
c.1561C>G (p.Pro521Ala)
c.289C>G (p.Pro97Ala)
c.1678C>G (p.Pro560Ala)
c.1651C>G (p.Pro551Ala)
c.1555C>G (p.Pro519Ala)
c.1162C>G (p.Pro388Ala)
c.1624C>G (p.Pro542Ala)
c.1558C>G (p.Pro520Ala)
c.589C>G (p.Pro197Ala)
20g.63413532G=CA2374777978KCNQ2c.1627C= (p.Pro543=)
c.1681C= (p.Pro561=)
c.1078C= (p.Pro360=)
c.1588C= (p.Pro530=)
c.1249C= (p.Pro417=)
c.1597C= (p.Pro533=)
c.1561C= (p.Pro521=)
c.289C= (p.Pro97=)
c.1678C= (p.Pro560=)
c.1651C= (p.Pro551=)
c.1555C= (p.Pro519=)
c.1162C= (p.Pro388=)
c.1624C= (p.Pro542=)
c.1558C= (p.Pro520=)
c.589C= (p.Pro197=)
20g.63413532G>TCA409643808KCNQ2c.1627C>A (p.Pro543Thr)
c.1681C>A (p.Pro561Thr)
c.1078C>A (p.Pro360Thr)
c.1588C>A (p.Pro530Thr)
c.1249C>A (p.Pro417Thr)
c.1597C>A (p.Pro533Thr)
c.1561C>A (p.Pro521Thr)
c.289C>A (p.Pro97Thr)
c.1678C>A (p.Pro560Thr)
c.1651C>A (p.Pro551Thr)
c.1555C>A (p.Pro519Thr)
c.1162C>A (p.Pro388Thr)
c.1624C>A (p.Pro542Thr)
c.1558C>A (p.Pro520Thr)
c.589C>A (p.Pro197Thr)
20g.63413533C>ACA511340083KCNQ2c.1626G>T (p.Arg542=)
c.1680G>T (p.Arg560=)
c.1077G>T (p.Arg359=)
c.1587G>T (p.Arg529=)
c.1248G>T (p.Arg416=)
c.1596G>T (p.Arg532=)
c.1560G>T (p.Arg520=)
c.288G>T (p.Arg96=)
c.1677G>T (p.Arg559=)
c.1650G>T (p.Arg550=)
c.1554G>T (p.Arg518=)
c.1161G>T (p.Arg387=)
c.1623G>T (p.Arg541=)
c.1557G>T (p.Arg519=)
c.588G>T (p.Arg196=)
20g.63413533C=CA2374777979KCNQ2c.1626G= (p.Arg542=)
c.1680G= (p.Arg560=)
c.1077G= (p.Arg359=)
c.1587G= (p.Arg529=)
c.1248G= (p.Arg416=)
c.1596G= (p.Arg532=)
c.1560G= (p.Arg520=)
c.288G= (p.Arg96=)
c.1677G= (p.Arg559=)
c.1650G= (p.Arg550=)
c.1554G= (p.Arg518=)
c.1161G= (p.Arg387=)
c.1623G= (p.Arg541=)
c.1557G= (p.Arg519=)
c.588G= (p.Arg196=)
20g.63413533C>GCA511340084KCNQ2c.1626G>C (p.Arg542=)
c.1680G>C (p.Arg560=)
c.1077G>C (p.Arg359=)
c.1587G>C (p.Arg529=)
c.1248G>C (p.Arg416=)
c.1596G>C (p.Arg532=)
c.1560G>C (p.Arg520=)
c.288G>C (p.Arg96=)
c.1677G>C (p.Arg559=)
c.1650G>C (p.Arg550=)
c.1554G>C (p.Arg518=)
c.1161G>C (p.Arg387=)
c.1623G>C (p.Arg541=)
c.1557G>C (p.Arg519=)
c.588G>C (p.Arg196=)
20g.63413533C>TCA9958328KCNQ2c.1626G>A (p.Arg542=)
c.1680G>A (p.Arg560=)
c.1077G>A (p.Arg359=)
c.1587G>A (p.Arg529=)
c.1248G>A (p.Arg416=)
c.1596G>A (p.Arg532=)
c.1560G>A (p.Arg520=)
c.288G>A (p.Arg96=)
c.1677G>A (p.Arg559=)
c.1650G>A (p.Arg550=)
c.1554G>A (p.Arg518=)
c.1161G>A (p.Arg387=)
c.1623G>A (p.Arg541=)
c.1557G>A (p.Arg519=)
c.588G>A (p.Arg196=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63413534dupCA915952965KCNQ2c.1626dup (p.Pro543AlafsTer23)
c.1680dup (p.Pro561AlafsTer23)
c.1077dup (p.Pro360AlafsTer23)
c.1587dup (p.Pro530AlafsTer23)
c.1248dup (p.Pro417AlafsTer23)
c.1596dup (p.Pro533AlafsTer23)
c.1560dup (p.Pro521AlafsTer23)
c.288dup (p.Pro97AlafsTer23)
c.1677dup (p.Pro560AlafsTer23)
c.1650dup (p.Pro551AlafsTer23)
c.1554dup (p.Pro519AlafsTer23)
c.1161dup (p.Pro388AlafsTer23)
c.1623dup (p.Pro542AlafsTer23)
c.1557dup (p.Pro520AlafsTer23)
c.588dup (p.Pro197AlafsTer23)
 ClinVar dbSNP
20g.63413534C>ACA409643815KCNQ2c.1625G>T (p.Arg542Leu)
c.1679G>T (p.Arg560Leu)
c.1076G>T (p.Arg359Leu)
c.1586G>T (p.Arg529Leu)
c.1247G>T (p.Arg416Leu)
c.1595G>T (p.Arg532Leu)
c.1559G>T (p.Arg520Leu)
c.287G>T (p.Arg96Leu)
c.1676G>T (p.Arg559Leu)
c.1649G>T (p.Arg550Leu)
c.1553G>T (p.Arg518Leu)
c.1160G>T (p.Arg387Leu)
c.1622G>T (p.Arg541Leu)
c.1556G>T (p.Arg519Leu)
c.587G>T (p.Arg196Leu)
 ClinVar
20g.63413534C=CA2374777980KCNQ2c.1625G= (p.Arg542=)
c.1679G= (p.Arg560=)
c.1076G= (p.Arg359=)
c.1586G= (p.Arg529=)
c.1247G= (p.Arg416=)
c.1595G= (p.Arg532=)
c.1559G= (p.Arg520=)
c.287G= (p.Arg96=)
c.1676G= (p.Arg559=)
c.1649G= (p.Arg550=)
c.1553G= (p.Arg518=)
c.1160G= (p.Arg387=)
c.1622G= (p.Arg541=)
c.1556G= (p.Arg519=)
c.587G= (p.Arg196=)
20g.63413534C>GCA409643820KCNQ2c.1625G>C (p.Arg542Pro)
c.1679G>C (p.Arg560Pro)
c.1076G>C (p.Arg359Pro)
c.1586G>C (p.Arg529Pro)
c.1247G>C (p.Arg416Pro)
c.1595G>C (p.Arg532Pro)
c.1559G>C (p.Arg520Pro)
c.287G>C (p.Arg96Pro)
c.1676G>C (p.Arg559Pro)
c.1649G>C (p.Arg550Pro)
c.1553G>C (p.Arg518Pro)
c.1160G>C (p.Arg387Pro)
c.1622G>C (p.Arg541Pro)
c.1556G>C (p.Arg519Pro)
c.587G>C (p.Arg196Pro)
 ClinVar dbSNP
20g.63413534C>TCA16043113KCNQ2c.1625G>A (p.Arg542Gln)
c.1679G>A (p.Arg560Gln)
c.1076G>A (p.Arg359Gln)
c.1586G>A (p.Arg529Gln)
c.1247G>A (p.Arg416Gln)
c.1595G>A (p.Arg532Gln)
c.1559G>A (p.Arg520Gln)
c.287G>A (p.Arg96Gln)
c.1676G>A (p.Arg559Gln)
c.1649G>A (p.Arg550Gln)
c.1553G>A (p.Arg518Gln)
c.1160G>A (p.Arg387Gln)
c.1622G>A (p.Arg541Gln)
c.1556G>A (p.Arg519Gln)
c.587G>A (p.Arg196Gln)
 ClinVar dbSNP gnomAD v4
20g.63413535G>ACA315471KCNQ2c.1624C>T (p.Arg542Trp)
c.1678C>T (p.Arg560Trp)
c.1075C>T (p.Arg359Trp)
c.1585C>T (p.Arg529Trp)
c.1246C>T (p.Arg416Trp)
c.1594C>T (p.Arg532Trp)
c.1558C>T (p.Arg520Trp)
c.286C>T (p.Arg96Trp)
c.1675C>T (p.Arg559Trp)
c.1648C>T (p.Arg550Trp)
c.1552C>T (p.Arg518Trp)
c.1159C>T (p.Arg387Trp)
c.1621C>T (p.Arg541Trp)
c.1555C>T (p.Arg519Trp)
c.586C>T (p.Arg196Trp)
 ClinVar dbSNP gnomAD v4
20g.63413535G>CCA409643824KCNQ2c.1624C>G (p.Arg542Gly)
c.1678C>G (p.Arg560Gly)
c.1075C>G (p.Arg359Gly)
c.1585C>G (p.Arg529Gly)
c.1246C>G (p.Arg416Gly)
c.1594C>G (p.Arg532Gly)
c.1558C>G (p.Arg520Gly)
c.286C>G (p.Arg96Gly)
c.1675C>G (p.Arg559Gly)
c.1648C>G (p.Arg550Gly)
c.1552C>G (p.Arg518Gly)
c.1159C>G (p.Arg387Gly)
c.1621C>G (p.Arg541Gly)
c.1555C>G (p.Arg519Gly)
c.586C>G (p.Arg196Gly)
20g.63413535G=CA2374777981KCNQ2c.1624C= (p.Arg542=)
c.1678C= (p.Arg560=)
c.1075C= (p.Arg359=)
c.1585C= (p.Arg529=)
c.1246C= (p.Arg416=)
c.1594C= (p.Arg532=)
c.1558C= (p.Arg520=)
c.286C= (p.Arg96=)
c.1675C= (p.Arg559=)
c.1648C= (p.Arg550=)
c.1552C= (p.Arg518=)
c.1159C= (p.Arg387=)
c.1621C= (p.Arg541=)
c.1555C= (p.Arg519=)
c.586C= (p.Arg196=)
20g.63413535G>TCA9958329KCNQ2c.1624C>A (p.Arg542=)
c.1678C>A (p.Arg560=)
c.1075C>A (p.Arg359=)
c.1585C>A (p.Arg529=)
c.1246C>A (p.Arg416=)
c.1594C>A (p.Arg532=)
c.1558C>A (p.Arg520=)
c.286C>A (p.Arg96=)
c.1675C>A (p.Arg559=)
c.1648C>A (p.Arg550=)
c.1552C>A (p.Arg518=)
c.1159C>A (p.Arg387=)
c.1621C>A (p.Arg541=)
c.1555C>A (p.Arg519=)
c.586C>A (p.Arg196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63413536C>ACA511340085KCNQ2c.1623G>T (p.Leu541=)
c.1677G>T (p.Leu559=)
c.1074G>T (p.Leu358=)
c.1584G>T (p.Leu528=)
c.1245G>T (p.Leu415=)
c.1593G>T (p.Leu531=)
c.1557G>T (p.Leu519=)
c.285G>T (p.Leu95=)
c.1674G>T (p.Leu558=)
c.1647G>T (p.Leu549=)
c.1551G>T (p.Leu517=)
c.1158G>T (p.Leu386=)
c.1620G>T (p.Leu540=)
c.1554G>T (p.Leu518=)
c.585G>T (p.Leu195=)
20g.63413536C>GCA511340087KCNQ2c.1623G>C (p.Leu541=)
c.1677G>C (p.Leu559=)
c.1074G>C (p.Leu358=)
c.1584G>C (p.Leu528=)
c.1245G>C (p.Leu415=)
c.1593G>C (p.Leu531=)
c.1557G>C (p.Leu519=)
c.285G>C (p.Leu95=)
c.1674G>C (p.Leu558=)
c.1647G>C (p.Leu549=)
c.1551G>C (p.Leu517=)
c.1158G>C (p.Leu386=)
c.1620G>C (p.Leu540=)
c.1554G>C (p.Leu518=)
c.585G>C (p.Leu195=)
 gnomAD v4
20g.63413536C>TCA511340086KCNQ2c.1623G>A (p.Leu541=)
c.1677G>A (p.Leu559=)
c.1074G>A (p.Leu358=)
c.1584G>A (p.Leu528=)
c.1245G>A (p.Leu415=)
c.1593G>A (p.Leu531=)
c.1557G>A (p.Leu519=)
c.285G>A (p.Leu95=)
c.1674G>A (p.Leu558=)
c.1647G>A (p.Leu549=)
c.1551G>A (p.Leu517=)
c.1158G>A (p.Leu386=)
c.1620G>A (p.Leu540=)
c.1554G>A (p.Leu518=)
c.585G>A (p.Leu195=)
20g.63413537A>CCA409643831KCNQ2c.1622T>G (p.Leu541Arg)
c.1676T>G (p.Leu559Arg)
c.1073T>G (p.Leu358Arg)
c.1583T>G (p.Leu528Arg)
c.1244T>G (p.Leu415Arg)
c.1592T>G (p.Leu531Arg)
c.1556T>G (p.Leu519Arg)
c.284T>G (p.Leu95Arg)
c.1673T>G (p.Leu558Arg)
c.1646T>G (p.Leu549Arg)
c.1550T>G (p.Leu517Arg)
c.1157T>G (p.Leu386Arg)
c.1619T>G (p.Leu540Arg)
c.1553T>G (p.Leu518Arg)
c.584T>G (p.Leu195Arg)
20g.63413537A>GCA409643842KCNQ2c.1622T>C (p.Leu541Pro)
c.1676T>C (p.Leu559Pro)
c.1073T>C (p.Leu358Pro)
c.1583T>C (p.Leu528Pro)
c.1244T>C (p.Leu415Pro)
c.1592T>C (p.Leu531Pro)
c.1556T>C (p.Leu519Pro)
c.284T>C (p.Leu95Pro)
c.1673T>C (p.Leu558Pro)
c.1646T>C (p.Leu549Pro)
c.1550T>C (p.Leu517Pro)
c.1157T>C (p.Leu386Pro)
c.1619T>C (p.Leu540Pro)
c.1553T>C (p.Leu518Pro)
c.584T>C (p.Leu195Pro)
 ClinVar
20g.63413537A>TCA409643840KCNQ2c.1622T>A (p.Leu541Gln)
c.1676T>A (p.Leu559Gln)
c.1073T>A (p.Leu358Gln)
c.1583T>A (p.Leu528Gln)
c.1244T>A (p.Leu415Gln)
c.1592T>A (p.Leu531Gln)
c.1556T>A (p.Leu519Gln)
c.284T>A (p.Leu95Gln)
c.1673T>A (p.Leu558Gln)
c.1646T>A (p.Leu549Gln)
c.1550T>A (p.Leu517Gln)
c.1157T>A (p.Leu386Gln)
c.1619T>A (p.Leu540Gln)
c.1553T>A (p.Leu518Gln)
c.584T>A (p.Leu195Gln)
20g.63413538G>ACA511339558KCNQ2c.1621C>T (p.Leu541=)
c.1675C>T (p.Leu559=)
c.1072C>T (p.Leu358=)
c.1582C>T (p.Leu528=)
c.1243C>T (p.Leu415=)
c.1591C>T (p.Leu531=)
c.1555C>T (p.Leu519=)
c.283C>T (p.Leu95=)
c.1672C>T (p.Leu558=)
c.1645C>T (p.Leu549=)
c.1549C>T (p.Leu517=)
c.1156C>T (p.Leu386=)
c.1618C>T (p.Leu540=)
c.1552C>T (p.Leu518=)
c.583C>T (p.Leu195=)
20g.63413538G>CCA409643845KCNQ2c.1621C>G (p.Leu541Val)
c.1675C>G (p.Leu559Val)
c.1072C>G (p.Leu358Val)
c.1582C>G (p.Leu528Val)
c.1243C>G (p.Leu415Val)
c.1591C>G (p.Leu531Val)
c.1555C>G (p.Leu519Val)
c.283C>G (p.Leu95Val)
c.1672C>G (p.Leu558Val)
c.1645C>G (p.Leu549Val)
c.1549C>G (p.Leu517Val)
c.1156C>G (p.Leu386Val)
c.1618C>G (p.Leu540Val)
c.1552C>G (p.Leu518Val)
c.583C>G (p.Leu195Val)
20g.63413538G>TCA409643847KCNQ2c.1621C>A (p.Leu541Met)
c.1675C>A (p.Leu559Met)
c.1072C>A (p.Leu358Met)
c.1582C>A (p.Leu528Met)
c.1243C>A (p.Leu415Met)
c.1591C>A (p.Leu531Met)
c.1555C>A (p.Leu519Met)
c.283C>A (p.Leu95Met)
c.1672C>A (p.Leu558Met)
c.1645C>A (p.Leu549Met)
c.1549C>A (p.Leu517Met)
c.1156C>A (p.Leu386Met)
c.1618C>A (p.Leu540Met)
c.1552C>A (p.Leu518Met)
c.583C>A (p.Leu195Met)
20g.63413539G>ACA511339559KCNQ2c.1620C>T (p.Ser540=)
c.1674C>T (p.Ser558=)
c.1071C>T (p.Ser357=)
c.1581C>T (p.Ser527=)
c.1242C>T (p.Ser414=)
c.1590C>T (p.Ser530=)
c.1554C>T (p.Ser518=)
c.282C>T (p.Ser94=)
c.1671C>T (p.Ser557=)
c.1644C>T (p.Ser548=)
c.1548C>T (p.Ser516=)
c.1155C>T (p.Ser385=)
c.1617C>T (p.Ser539=)
c.1551C>T (p.Ser517=)
c.582C>T (p.Ser194=)
 ClinVar dbSNP
20g.63413539G>CCA409643849KCNQ2c.1620C>G (p.Ser540Arg)
c.1674C>G (p.Ser558Arg)
c.1071C>G (p.Ser357Arg)
c.1581C>G (p.Ser527Arg)
c.1242C>G (p.Ser414Arg)
c.1590C>G (p.Ser530Arg)
c.1554C>G (p.Ser518Arg)
c.282C>G (p.Ser94Arg)
c.1671C>G (p.Ser557Arg)
c.1644C>G (p.Ser548Arg)
c.1548C>G (p.Ser516Arg)
c.1155C>G (p.Ser385Arg)
c.1617C>G (p.Ser539Arg)
c.1551C>G (p.Ser517Arg)
c.582C>G (p.Ser194Arg)
20g.63413539G>TCA409643852KCNQ2c.1620C>A (p.Ser540Arg)
c.1674C>A (p.Ser558Arg)
c.1071C>A (p.Ser357Arg)
c.1581C>A (p.Ser527Arg)
c.1242C>A (p.Ser414Arg)
c.1590C>A (p.Ser530Arg)
c.1554C>A (p.Ser518Arg)
c.282C>A (p.Ser94Arg)
c.1671C>A (p.Ser557Arg)
c.1644C>A (p.Ser548Arg)
c.1548C>A (p.Ser516Arg)
c.1155C>A (p.Ser385Arg)
c.1617C>A (p.Ser539Arg)
c.1551C>A (p.Ser517Arg)
c.582C>A (p.Ser194Arg)
20g.63413540C>ACA409643863KCNQ2c.1619G>T (p.Ser540Ile)
c.1673G>T (p.Ser558Ile)
c.1070G>T (p.Ser357Ile)
c.1580G>T (p.Ser527Ile)
c.1241G>T (p.Ser414Ile)
c.1589G>T (p.Ser530Ile)
c.1553G>T (p.Ser518Ile)
c.281G>T (p.Ser94Ile)
c.1670G>T (p.Ser557Ile)
c.1643G>T (p.Ser548Ile)
c.1547G>T (p.Ser516Ile)
c.1154G>T (p.Ser385Ile)
c.1616G>T (p.Ser539Ile)
c.1550G>T (p.Ser517Ile)
c.581G>T (p.Ser194Ile)
20g.63413540C=CA2374777982KCNQ2c.1619G= (p.Ser540=)
c.1673G= (p.Ser558=)
c.1070G= (p.Ser357=)
c.1580G= (p.Ser527=)
c.1241G= (p.Ser414=)
c.1589G= (p.Ser530=)
c.1553G= (p.Ser518=)
c.281G= (p.Ser94=)
c.1670G= (p.Ser557=)
c.1643G= (p.Ser548=)
c.1547G= (p.Ser516=)
c.1154G= (p.Ser385=)
c.1616G= (p.Ser539=)
c.1550G= (p.Ser517=)
c.581G= (p.Ser194=)
20g.63413540C>GCA409643855KCNQ2c.1619G>C (p.Ser540Thr)
c.1673G>C (p.Ser558Thr)
c.1070G>C (p.Ser357Thr)
c.1580G>C (p.Ser527Thr)
c.1241G>C (p.Ser414Thr)
c.1589G>C (p.Ser530Thr)
c.1553G>C (p.Ser518Thr)
c.281G>C (p.Ser94Thr)
c.1670G>C (p.Ser557Thr)
c.1643G>C (p.Ser548Thr)
c.1547G>C (p.Ser516Thr)
c.1154G>C (p.Ser385Thr)
c.1616G>C (p.Ser539Thr)
c.1550G>C (p.Ser517Thr)
c.581G>C (p.Ser194Thr)
20g.63413540C>TCA409643860KCNQ2c.1619G>A (p.Ser540Asn)
c.1673G>A (p.Ser558Asn)
c.1070G>A (p.Ser357Asn)
c.1580G>A (p.Ser527Asn)
c.1241G>A (p.Ser414Asn)
c.1589G>A (p.Ser530Asn)
c.1553G>A (p.Ser518Asn)
c.281G>A (p.Ser94Asn)
c.1670G>A (p.Ser557Asn)
c.1643G>A (p.Ser548Asn)
c.1547G>A (p.Ser516Asn)
c.1154G>A (p.Ser385Asn)
c.1616G>A (p.Ser539Asn)
c.1550G>A (p.Ser517Asn)
c.581G>A (p.Ser194Asn)
 ClinVar dbSNP
20g.63413541T>ACA409643866KCNQ2c.1618A>T (p.Ser540Cys)
c.1672A>T (p.Ser558Cys)
c.1069A>T (p.Ser357Cys)
c.1579A>T (p.Ser527Cys)
c.1240A>T (p.Ser414Cys)
c.1588A>T (p.Ser530Cys)
c.1552A>T (p.Ser518Cys)
c.280A>T (p.Ser94Cys)
c.1669A>T (p.Ser557Cys)
c.1642A>T (p.Ser548Cys)
c.1546A>T (p.Ser516Cys)
c.1153A>T (p.Ser385Cys)
c.1615A>T (p.Ser539Cys)
c.1549A>T (p.Ser517Cys)
c.580A>T (p.Ser194Cys)
20g.63413541T>CCA409643872KCNQ2c.1618A>G (p.Ser540Gly)
c.1672A>G (p.Ser558Gly)
c.1069A>G (p.Ser357Gly)
c.1579A>G (p.Ser527Gly)
c.1240A>G (p.Ser414Gly)
c.1588A>G (p.Ser530Gly)
c.1552A>G (p.Ser518Gly)
c.280A>G (p.Ser94Gly)
c.1669A>G (p.Ser557Gly)
c.1642A>G (p.Ser548Gly)
c.1546A>G (p.Ser516Gly)
c.1153A>G (p.Ser385Gly)
c.1615A>G (p.Ser539Gly)
c.1549A>G (p.Ser517Gly)
c.580A>G (p.Ser194Gly)
20g.63413541T>GCA409643879KCNQ2c.1618A>C (p.Ser540Arg)
c.1672A>C (p.Ser558Arg)
c.1069A>C (p.Ser357Arg)
c.1579A>C (p.Ser527Arg)
c.1240A>C (p.Ser414Arg)
c.1588A>C (p.Ser530Arg)
c.1552A>C (p.Ser518Arg)
c.280A>C (p.Ser94Arg)
c.1669A>C (p.Ser557Arg)
c.1642A>C (p.Ser548Arg)
c.1546A>C (p.Ser516Arg)
c.1153A>C (p.Ser385Arg)
c.1615A>C (p.Ser539Arg)
c.1549A>C (p.Ser517Arg)
c.580A>C (p.Ser194Arg)
20g.63413542C>ACA409643883KCNQ2c.1617G>T (p.Glu539Asp)
c.1671G>T (p.Glu557Asp)
c.1068G>T (p.Glu356Asp)
c.1578G>T (p.Glu526Asp)
c.1239G>T (p.Glu413Asp)
c.1587G>T (p.Glu529Asp)
c.1551G>T (p.Glu517Asp)
c.279G>T (p.Glu93Asp)
c.1668G>T (p.Glu556Asp)
c.1641G>T (p.Glu547Asp)
c.1545G>T (p.Glu515Asp)
c.1152G>T (p.Glu384Asp)
c.1614G>T (p.Glu538Asp)
c.1548G>T (p.Glu516Asp)
c.579G>T (p.Glu193Asp)
20g.63413542C>GCA409643885KCNQ2c.1617G>C (p.Glu539Asp)
c.1671G>C (p.Glu557Asp)
c.1068G>C (p.Glu356Asp)
c.1578G>C (p.Glu526Asp)
c.1239G>C (p.Glu413Asp)
c.1587G>C (p.Glu529Asp)
c.1551G>C (p.Glu517Asp)
c.279G>C (p.Glu93Asp)
c.1668G>C (p.Glu556Asp)
c.1641G>C (p.Glu547Asp)
c.1545G>C (p.Glu515Asp)
c.1152G>C (p.Glu384Asp)
c.1614G>C (p.Glu538Asp)
c.1548G>C (p.Glu516Asp)
c.579G>C (p.Glu193Asp)
20g.63413542C>TCA511339562KCNQ2c.1617G>A (p.Glu539=)
c.1671G>A (p.Glu557=)
c.1068G>A (p.Glu356=)
c.1578G>A (p.Glu526=)
c.1239G>A (p.Glu413=)
c.1587G>A (p.Glu529=)
c.1551G>A (p.Glu517=)
c.279G>A (p.Glu93=)
c.1668G>A (p.Glu556=)
c.1641G>A (p.Glu547=)
c.1545G>A (p.Glu515=)
c.1152G>A (p.Glu384=)
c.1614G>A (p.Glu538=)
c.1548G>A (p.Glu516=)
c.579G>A (p.Glu193=)
 gnomAD v4
20g.63413543T>ACA409643889KCNQ2c.1616A>T (p.Glu539Val)
c.1670A>T (p.Glu557Val)
c.1067A>T (p.Glu356Val)
c.1577A>T (p.Glu526Val)
c.1238A>T (p.Glu413Val)
c.1586A>T (p.Glu529Val)
c.1550A>T (p.Glu517Val)
c.278A>T (p.Glu93Val)
c.1667A>T (p.Glu556Val)
c.1640A>T (p.Glu547Val)
c.1544A>T (p.Glu515Val)
c.1151A>T (p.Glu384Val)
c.1613A>T (p.Glu538Val)
c.1547A>T (p.Glu516Val)
c.578A>T (p.Glu193Val)
20g.63413543T>CCA409643890KCNQ2c.1616A>G (p.Glu539Gly)
c.1670A>G (p.Glu557Gly)
c.1067A>G (p.Glu356Gly)
c.1577A>G (p.Glu526Gly)
c.1238A>G (p.Glu413Gly)
c.1586A>G (p.Glu529Gly)
c.1550A>G (p.Glu517Gly)
c.278A>G (p.Glu93Gly)
c.1667A>G (p.Glu556Gly)
c.1640A>G (p.Glu547Gly)
c.1544A>G (p.Glu515Gly)
c.1151A>G (p.Glu384Gly)
c.1613A>G (p.Glu538Gly)
c.1547A>G (p.Glu516Gly)
c.578A>G (p.Glu193Gly)
20g.63413543T>GCA409643891KCNQ2c.1616A>C (p.Glu539Ala)
c.1670A>C (p.Glu557Ala)
c.1067A>C (p.Glu356Ala)
c.1577A>C (p.Glu526Ala)
c.1238A>C (p.Glu413Ala)
c.1586A>C (p.Glu529Ala)
c.1550A>C (p.Glu517Ala)
c.278A>C (p.Glu93Ala)
c.1667A>C (p.Glu556Ala)
c.1640A>C (p.Glu547Ala)
c.1544A>C (p.Glu515Ala)
c.1151A>C (p.Glu384Ala)
c.1613A>C (p.Glu538Ala)
c.1547A>C (p.Glu516Ala)
c.578A>C (p.Glu193Ala)
20g.63413544C>ACA409643893KCNQ2c.1615G>T (p.Glu539Ter)
c.1669G>T (p.Glu557Ter)
c.1066G>T (p.Glu356Ter)
c.1576G>T (p.Glu526Ter)
c.1237G>T (p.Glu413Ter)
c.1585G>T (p.Glu529Ter)
c.1549G>T (p.Glu517Ter)
c.277G>T (p.Glu93Ter)
c.1666G>T (p.Glu556Ter)
c.1639G>T (p.Glu547Ter)
c.1543G>T (p.Glu515Ter)
c.1150G>T (p.Glu384Ter)
c.1612G>T (p.Glu538Ter)
c.1546G>T (p.Glu516Ter)
c.577G>T (p.Glu193Ter)
20g.63413544C>GCA409643894KCNQ2c.1615G>C (p.Glu539Gln)
c.1669G>C (p.Glu557Gln)
c.1066G>C (p.Glu356Gln)
c.1576G>C (p.Glu526Gln)
c.1237G>C (p.Glu413Gln)
c.1585G>C (p.Glu529Gln)
c.1549G>C (p.Glu517Gln)
c.277G>C (p.Glu93Gln)
c.1666G>C (p.Glu556Gln)
c.1639G>C (p.Glu547Gln)
c.1543G>C (p.Glu515Gln)
c.1150G>C (p.Glu384Gln)
c.1612G>C (p.Glu538Gln)
c.1546G>C (p.Glu516Gln)
c.577G>C (p.Glu193Gln)
20g.63413544C>TCA409643896KCNQ2c.1615G>A (p.Glu539Lys)
c.1669G>A (p.Glu557Lys)
c.1066G>A (p.Glu356Lys)
c.1576G>A (p.Glu526Lys)
c.1237G>A (p.Glu413Lys)
c.1585G>A (p.Glu529Lys)
c.1549G>A (p.Glu517Lys)
c.277G>A (p.Glu93Lys)
c.1666G>A (p.Glu556Lys)
c.1639G>A (p.Glu547Lys)
c.1543G>A (p.Glu515Lys)
c.1150G>A (p.Glu384Lys)
c.1612G>A (p.Glu538Lys)
c.1546G>A (p.Glu516Lys)
c.577G>A (p.Glu193Lys)
 COSMIC COSMIC COSMIC
20g.63413545C>ACA409643898KCNQ2c.1614G>T (p.Lys538Asn)
c.1668G>T (p.Lys556Asn)
c.1065G>T (p.Lys355Asn)
c.1575G>T (p.Lys525Asn)
c.1236G>T (p.Lys412Asn)
c.1584G>T (p.Lys528Asn)
c.1548G>T (p.Lys516Asn)
c.276G>T (p.Lys92Asn)
c.1665G>T (p.Lys555Asn)
c.1638G>T (p.Lys546Asn)
c.1542G>T (p.Lys514Asn)
c.1149G>T (p.Lys383Asn)
c.1611G>T (p.Lys537Asn)
c.1545G>T (p.Lys515Asn)
c.576G>T (p.Lys192Asn)
20g.63413545C>GCA409643900KCNQ2c.1614G>C (p.Lys538Asn)
c.1668G>C (p.Lys556Asn)
c.1065G>C (p.Lys355Asn)
c.1575G>C (p.Lys525Asn)
c.1236G>C (p.Lys412Asn)
c.1584G>C (p.Lys528Asn)
c.1548G>C (p.Lys516Asn)
c.276G>C (p.Lys92Asn)
c.1665G>C (p.Lys555Asn)
c.1638G>C (p.Lys546Asn)
c.1542G>C (p.Lys514Asn)
c.1149G>C (p.Lys383Asn)
c.1611G>C (p.Lys537Asn)
c.1545G>C (p.Lys515Asn)
c.576G>C (p.Lys192Asn)
20g.63413545C>TCA511339566KCNQ2c.1614G>A (p.Lys538=)
c.1668G>A (p.Lys556=)
c.1065G>A (p.Lys355=)
c.1575G>A (p.Lys525=)
c.1236G>A (p.Lys412=)
c.1584G>A (p.Lys528=)
c.1548G>A (p.Lys516=)
c.276G>A (p.Lys92=)
c.1665G>A (p.Lys555=)
c.1638G>A (p.Lys546=)
c.1542G>A (p.Lys514=)
c.1149G>A (p.Lys383=)
c.1611G>A (p.Lys537=)
c.1545G>A (p.Lys515=)
c.576G>A (p.Lys192=)
20g.63413546T>ACA409643908KCNQ2c.1613A>T (p.Lys538Met)
c.1667A>T (p.Lys556Met)
c.1064A>T (p.Lys355Met)
c.1574A>T (p.Lys525Met)
c.1235A>T (p.Lys412Met)
c.1583A>T (p.Lys528Met)
c.1547A>T (p.Lys516Met)
c.275A>T (p.Lys92Met)
c.1664A>T (p.Lys555Met)
c.1637A>T (p.Lys546Met)
c.1541A>T (p.Lys514Met)
c.1148A>T (p.Lys383Met)
c.1610A>T (p.Lys537Met)
c.1544A>T (p.Lys515Met)
c.575A>T (p.Lys192Met)
20g.63413546T>CCA409643903KCNQ2c.1613A>G (p.Lys538Arg)
c.1667A>G (p.Lys556Arg)
c.1064A>G (p.Lys355Arg)
c.1574A>G (p.Lys525Arg)
c.1235A>G (p.Lys412Arg)
c.1583A>G (p.Lys528Arg)
c.1547A>G (p.Lys516Arg)
c.275A>G (p.Lys92Arg)
c.1664A>G (p.Lys555Arg)
c.1637A>G (p.Lys546Arg)
c.1541A>G (p.Lys514Arg)
c.1148A>G (p.Lys383Arg)
c.1610A>G (p.Lys537Arg)
c.1544A>G (p.Lys515Arg)
c.575A>G (p.Lys192Arg)
 ClinVar
20g.63413546T>GCA409643905KCNQ2c.1613A>C (p.Lys538Thr)
c.1667A>C (p.Lys556Thr)
c.1064A>C (p.Lys355Thr)
c.1574A>C (p.Lys525Thr)
c.1235A>C (p.Lys412Thr)
c.1583A>C (p.Lys528Thr)
c.1547A>C (p.Lys516Thr)
c.275A>C (p.Lys92Thr)
c.1664A>C (p.Lys555Thr)
c.1637A>C (p.Lys546Thr)
c.1541A>C (p.Lys514Thr)
c.1148A>C (p.Lys383Thr)
c.1610A>C (p.Lys537Thr)
c.1544A>C (p.Lys515Thr)
c.575A>C (p.Lys192Thr)
20g.63413547T>ACA409643910KCNQ2c.1612A>T (p.Lys538Ter)
c.1666A>T (p.Lys556Ter)
c.1063A>T (p.Lys355Ter)
c.1573A>T (p.Lys525Ter)
c.1234A>T (p.Lys412Ter)
c.1582A>T (p.Lys528Ter)
c.1546A>T (p.Lys516Ter)
c.274A>T (p.Lys92Ter)
c.1663A>T (p.Lys555Ter)
c.1636A>T (p.Lys546Ter)
c.1540A>T (p.Lys514Ter)
c.1147A>T (p.Lys383Ter)
c.1609A>T (p.Lys537Ter)
c.1543A>T (p.Lys515Ter)
c.574A>T (p.Lys192Ter)
20g.63413547T>CCA315468KCNQ2c.1612A>G (p.Lys538Glu)
c.1666A>G (p.Lys556Glu)
c.1063A>G (p.Lys355Glu)
c.1573A>G (p.Lys525Glu)
c.1234A>G (p.Lys412Glu)
c.1582A>G (p.Lys528Glu)
c.1546A>G (p.Lys516Glu)
c.274A>G (p.Lys92Glu)
c.1663A>G (p.Lys555Glu)
c.1636A>G (p.Lys546Glu)
c.1540A>G (p.Lys514Glu)
c.1147A>G (p.Lys383Glu)
c.1609A>G (p.Lys537Glu)
c.1543A>G (p.Lys515Glu)
c.574A>G (p.Lys192Glu)
 ClinVar dbSNP
20g.63413547T>GCA409643918KCNQ2c.1612A>C (p.Lys538Gln)
c.1666A>C (p.Lys556Gln)
c.1063A>C (p.Lys355Gln)
c.1573A>C (p.Lys525Gln)
c.1234A>C (p.Lys412Gln)
c.1582A>C (p.Lys528Gln)
c.1546A>C (p.Lys516Gln)
c.274A>C (p.Lys92Gln)
c.1663A>C (p.Lys555Gln)
c.1636A>C (p.Lys546Gln)
c.1540A>C (p.Lys514Gln)
c.1147A>C (p.Lys383Gln)
c.1609A>C (p.Lys537Gln)
c.1543A>C (p.Lys515Gln)
c.574A>C (p.Lys192Gln)
 ClinVar
20g.63413547T=CA2374777983KCNQ2c.1612A= (p.Lys538=)
c.1666A= (p.Lys556=)
c.1063A= (p.Lys355=)
c.1573A= (p.Lys525=)
c.1234A= (p.Lys412=)
c.1582A= (p.Lys528=)
c.1546A= (p.Lys516=)
c.274A= (p.Lys92=)
c.1663A= (p.Lys555=)
c.1636A= (p.Lys546=)
c.1540A= (p.Lys514=)
c.1147A= (p.Lys383=)
c.1609A= (p.Lys537=)
c.1543A= (p.Lys515=)
c.574A= (p.Lys192=)
20g.63413548G>ACA317428826KCNQ2c.1611C>T (p.Phe537=)
c.1665C>T (p.Phe555=)
c.1062C>T (p.Phe354=)
c.1572C>T (p.Phe524=)
c.1233C>T (p.Phe411=)
c.1581C>T (p.Phe527=)
c.1545C>T (p.Phe515=)
c.273C>T (p.Phe91=)
c.1662C>T (p.Phe554=)
c.1635C>T (p.Phe545=)
c.1539C>T (p.Phe513=)
c.1146C>T (p.Phe382=)
c.1608C>T (p.Phe536=)
c.1542C>T (p.Phe514=)
c.573C>T (p.Phe191=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63413548G>CCA409643924KCNQ2c.1611C>G (p.Phe537Leu)
c.1665C>G (p.Phe555Leu)
c.1062C>G (p.Phe354Leu)
c.1572C>G (p.Phe524Leu)
c.1233C>G (p.Phe411Leu)
c.1581C>G (p.Phe527Leu)
c.1545C>G (p.Phe515Leu)
c.273C>G (p.Phe91Leu)
c.1662C>G (p.Phe554Leu)
c.1635C>G (p.Phe545Leu)
c.1539C>G (p.Phe513Leu)
c.1146C>G (p.Phe382Leu)
c.1608C>G (p.Phe536Leu)
c.1542C>G (p.Phe514Leu)
c.573C>G (p.Phe191Leu)
 ClinVar
20g.63413548G=CA2374777984KCNQ2c.1611C= (p.Phe537=)
c.1665C= (p.Phe555=)
c.1062C= (p.Phe354=)
c.1572C= (p.Phe524=)
c.1233C= (p.Phe411=)
c.1581C= (p.Phe527=)
c.1545C= (p.Phe515=)
c.273C= (p.Phe91=)
c.1662C= (p.Phe554=)
c.1635C= (p.Phe545=)
c.1539C= (p.Phe513=)
c.1146C= (p.Phe382=)
c.1608C= (p.Phe536=)
c.1542C= (p.Phe514=)
c.573C= (p.Phe191=)
20g.63413548G>TCA409643928KCNQ2c.1611C>A (p.Phe537Leu)
c.1665C>A (p.Phe555Leu)
c.1062C>A (p.Phe354Leu)
c.1572C>A (p.Phe524Leu)
c.1233C>A (p.Phe411Leu)
c.1581C>A (p.Phe527Leu)
c.1545C>A (p.Phe515Leu)
c.273C>A (p.Phe91Leu)
c.1662C>A (p.Phe554Leu)
c.1635C>A (p.Phe545Leu)
c.1539C>A (p.Phe513Leu)
c.1146C>A (p.Phe382Leu)
c.1608C>A (p.Phe536Leu)
c.1542C>A (p.Phe514Leu)
c.573C>A (p.Phe191Leu)
20g.63413549A>CCA409643945KCNQ2c.1610T>G (p.Phe537Cys)
c.1664T>G (p.Phe555Cys)
c.1061T>G (p.Phe354Cys)
c.1571T>G (p.Phe524Cys)
c.1232T>G (p.Phe411Cys)
c.1580T>G (p.Phe527Cys)
c.1544T>G (p.Phe515Cys)
c.272T>G (p.Phe91Cys)
c.1661T>G (p.Phe554Cys)
c.1634T>G (p.Phe545Cys)
c.1538T>G (p.Phe513Cys)
c.1145T>G (p.Phe382Cys)
c.1607T>G (p.Phe536Cys)
c.1541T>G (p.Phe514Cys)
c.572T>G (p.Phe191Cys)
20g.63413549A>GCA409643931KCNQ2c.1610T>C (p.Phe537Ser)
c.1664T>C (p.Phe555Ser)
c.1061T>C (p.Phe354Ser)
c.1571T>C (p.Phe524Ser)
c.1232T>C (p.Phe411Ser)
c.1580T>C (p.Phe527Ser)
c.1544T>C (p.Phe515Ser)
c.272T>C (p.Phe91Ser)
c.1661T>C (p.Phe554Ser)
c.1634T>C (p.Phe545Ser)
c.1538T>C (p.Phe513Ser)
c.1145T>C (p.Phe382Ser)
c.1607T>C (p.Phe536Ser)
c.1541T>C (p.Phe514Ser)
c.572T>C (p.Phe191Ser)
20g.63413549A>TCA409643942KCNQ2c.1610T>A (p.Phe537Tyr)
c.1664T>A (p.Phe555Tyr)
c.1061T>A (p.Phe354Tyr)
c.1571T>A (p.Phe524Tyr)
c.1232T>A (p.Phe411Tyr)
c.1580T>A (p.Phe527Tyr)
c.1544T>A (p.Phe515Tyr)
c.272T>A (p.Phe91Tyr)
c.1661T>A (p.Phe554Tyr)
c.1634T>A (p.Phe545Tyr)
c.1538T>A (p.Phe513Tyr)
c.1145T>A (p.Phe382Tyr)
c.1607T>A (p.Phe536Tyr)
c.1541T>A (p.Phe514Tyr)
c.572T>A (p.Phe191Tyr)
20g.63413550A>CCA409643950KCNQ2c.1609T>G (p.Phe537Val)
c.1663T>G (p.Phe555Val)
c.1060T>G (p.Phe354Val)
c.1570T>G (p.Phe524Val)
c.1231T>G (p.Phe411Val)
c.1579T>G (p.Phe527Val)
c.1543T>G (p.Phe515Val)
c.271T>G (p.Phe91Val)
c.1660T>G (p.Phe554Val)
c.1633T>G (p.Phe545Val)
c.1537T>G (p.Phe513Val)
c.1144T>G (p.Phe382Val)
c.1606T>G (p.Phe536Val)
c.1540T>G (p.Phe514Val)
c.571T>G (p.Phe191Val)
20g.63413550A>GCA409643953KCNQ2c.1609T>C (p.Phe537Leu)
c.1663T>C (p.Phe555Leu)
c.1060T>C (p.Phe354Leu)
c.1570T>C (p.Phe524Leu)
c.1231T>C (p.Phe411Leu)
c.1579T>C (p.Phe527Leu)
c.1543T>C (p.Phe515Leu)
c.271T>C (p.Phe91Leu)
c.1660T>C (p.Phe554Leu)
c.1633T>C (p.Phe545Leu)
c.1537T>C (p.Phe513Leu)
c.1144T>C (p.Phe382Leu)
c.1606T>C (p.Phe536Leu)
c.1540T>C (p.Phe514Leu)
c.571T>C (p.Phe191Leu)
 ClinVar
20g.63413550A>TCA409643954KCNQ2c.1609T>A (p.Phe537Ile)
c.1663T>A (p.Phe555Ile)
c.1060T>A (p.Phe354Ile)
c.1570T>A (p.Phe524Ile)
c.1231T>A (p.Phe411Ile)
c.1579T>A (p.Phe527Ile)
c.1543T>A (p.Phe515Ile)
c.271T>A (p.Phe91Ile)
c.1660T>A (p.Phe554Ile)
c.1633T>A (p.Phe545Ile)
c.1537T>A (p.Phe513Ile)
c.1144T>A (p.Phe382Ile)
c.1606T>A (p.Phe536Ile)
c.1540T>A (p.Phe514Ile)
c.571T>A (p.Phe191Ile)
 ClinVar dbSNP
20g.63413551C>ACA129072KCNQ2c.1608G>T (p.Lys536Asn)
c.1662G>T (p.Lys554Asn)
c.1059G>T (p.Lys353Asn)
c.1569G>T (p.Lys523Asn)
c.1230G>T (p.Lys410Asn)
c.1578G>T (p.Lys526Asn)
c.1542G>T (p.Lys514Asn)
c.270G>T (p.Lys90Asn)
c.1659G>T (p.Lys553Asn)
c.1632G>T (p.Lys544Asn)
c.1536G>T (p.Lys512Asn)
c.1143G>T (p.Lys381Asn)
c.1605G>T (p.Lys535Asn)
c.1539G>T (p.Lys513Asn)
c.570G>T (p.Lys190Asn)
 ClinVar dbSNP
20g.63413551C=CA2374777985KCNQ2c.1608G= (p.Lys536=)
c.1662G= (p.Lys554=)
c.1059G= (p.Lys353=)
c.1569G= (p.Lys523=)
c.1230G= (p.Lys410=)
c.1578G= (p.Lys526=)
c.1542G= (p.Lys514=)
c.270G= (p.Lys90=)
c.1659G= (p.Lys553=)
c.1632G= (p.Lys544=)
c.1536G= (p.Lys512=)
c.1143G= (p.Lys381=)
c.1605G= (p.Lys535=)
c.1539G= (p.Lys513=)
c.570G= (p.Lys190=)
20g.63413551C>GCA409643959KCNQ2c.1608G>C (p.Lys536Asn)
c.1662G>C (p.Lys554Asn)
c.1059G>C (p.Lys353Asn)
c.1569G>C (p.Lys523Asn)
c.1230G>C (p.Lys410Asn)
c.1578G>C (p.Lys526Asn)
c.1542G>C (p.Lys514Asn)
c.270G>C (p.Lys90Asn)
c.1659G>C (p.Lys553Asn)
c.1632G>C (p.Lys544Asn)
c.1536G>C (p.Lys512Asn)
c.1143G>C (p.Lys381Asn)
c.1605G>C (p.Lys535Asn)
c.1539G>C (p.Lys513Asn)
c.570G>C (p.Lys190Asn)
20g.63413551C>TCA317428834KCNQ2c.1608G>A (p.Lys536=)
c.1662G>A (p.Lys554=)
c.1059G>A (p.Lys353=)
c.1569G>A (p.Lys523=)
c.1230G>A (p.Lys410=)
c.1578G>A (p.Lys526=)
c.1542G>A (p.Lys514=)
c.270G>A (p.Lys90=)
c.1659G>A (p.Lys553=)
c.1632G>A (p.Lys544=)
c.1536G>A (p.Lys512=)
c.1143G>A (p.Lys381=)
c.1605G>A (p.Lys535=)
c.1539G>A (p.Lys513=)
c.570G>A (p.Lys190=)
 ClinVar dbSNP gnomAD v4
20g.63413552T>ACA409643962KCNQ2c.1607A>T (p.Lys536Met)
c.1661A>T (p.Lys554Met)
c.1058A>T (p.Lys353Met)
c.1568A>T (p.Lys523Met)
c.1229A>T (p.Lys410Met)
c.1577A>T (p.Lys526Met)
c.1541A>T (p.Lys514Met)
c.269A>T (p.Lys90Met)
c.1658A>T (p.Lys553Met)
c.1631A>T (p.Lys544Met)
c.1535A>T (p.Lys512Met)
c.1142A>T (p.Lys381Met)
c.1604A>T (p.Lys535Met)
c.1538A>T (p.Lys513Met)
c.569A>T (p.Lys190Met)
20g.63413552T>CCA409643967KCNQ2c.1607A>G (p.Lys536Arg)
c.1661A>G (p.Lys554Arg)
c.1058A>G (p.Lys353Arg)
c.1568A>G (p.Lys523Arg)
c.1229A>G (p.Lys410Arg)
c.1577A>G (p.Lys526Arg)
c.1541A>G (p.Lys514Arg)
c.269A>G (p.Lys90Arg)
c.1658A>G (p.Lys553Arg)
c.1631A>G (p.Lys544Arg)
c.1535A>G (p.Lys512Arg)
c.1142A>G (p.Lys381Arg)
c.1604A>G (p.Lys535Arg)
c.1538A>G (p.Lys513Arg)
c.569A>G (p.Lys190Arg)
20g.63413552T>GCA409643966KCNQ2c.1607A>C (p.Lys536Thr)
c.1661A>C (p.Lys554Thr)
c.1058A>C (p.Lys353Thr)
c.1568A>C (p.Lys523Thr)
c.1229A>C (p.Lys410Thr)
c.1577A>C (p.Lys526Thr)
c.1541A>C (p.Lys514Thr)
c.269A>C (p.Lys90Thr)
c.1658A>C (p.Lys553Thr)
c.1631A>C (p.Lys544Thr)
c.1535A>C (p.Lys512Thr)
c.1142A>C (p.Lys381Thr)
c.1604A>C (p.Lys535Thr)
c.1538A>C (p.Lys513Thr)
c.569A>C (p.Lys190Thr)
20g.63413553T>ACA409643971KCNQ2c.1606A>T (p.Lys536Ter)
c.1660A>T (p.Lys554Ter)
c.1057A>T (p.Lys353Ter)
c.1567A>T (p.Lys523Ter)
c.1228A>T (p.Lys410Ter)
c.1576A>T (p.Lys526Ter)
c.1540A>T (p.Lys514Ter)
c.268A>T (p.Lys90Ter)
c.1657A>T (p.Lys553Ter)
c.1630A>T (p.Lys544Ter)
c.1534A>T (p.Lys512Ter)
c.1141A>T (p.Lys381Ter)
c.1603A>T (p.Lys535Ter)
c.1537A>T (p.Lys513Ter)
c.568A>T (p.Lys190Ter)
20g.63413553T>CCA409643974KCNQ2c.1606A>G (p.Lys536Glu)
c.1660A>G (p.Lys554Glu)
c.1057A>G (p.Lys353Glu)
c.1567A>G (p.Lys523Glu)
c.1228A>G (p.Lys410Glu)
c.1576A>G (p.Lys526Glu)
c.1540A>G (p.Lys514Glu)
c.268A>G (p.Lys90Glu)
c.1657A>G (p.Lys553Glu)
c.1630A>G (p.Lys544Glu)
c.1534A>G (p.Lys512Glu)
c.1141A>G (p.Lys381Glu)
c.1603A>G (p.Lys535Glu)
c.1537A>G (p.Lys513Glu)
c.568A>G (p.Lys190Glu)
20g.63413553T>GCA409643976KCNQ2c.1606A>C (p.Lys536Gln)
c.1660A>C (p.Lys554Gln)
c.1057A>C (p.Lys353Gln)
c.1567A>C (p.Lys523Gln)
c.1228A>C (p.Lys410Gln)
c.1576A>C (p.Lys526Gln)
c.1540A>C (p.Lys514Gln)
c.268A>C (p.Lys90Gln)
c.1657A>C (p.Lys553Gln)
c.1630A>C (p.Lys544Gln)
c.1534A>C (p.Lys512Gln)
c.1141A>C (p.Lys381Gln)
c.1603A>C (p.Lys535Gln)
c.1537A>C (p.Lys513Gln)
c.568A>C (p.Lys190Gln)
20g.63413554C>ACA511339578KCNQ2c.1605G>T (p.Arg535=)
c.1659G>T (p.Arg553=)
c.1056G>T (p.Arg352=)
c.1566G>T (p.Arg522=)
c.1227G>T (p.Arg409=)
c.1575G>T (p.Arg525=)
c.1539G>T (p.Arg513=)
c.267G>T (p.Arg89=)
c.1656G>T (p.Arg552=)
c.1629G>T (p.Arg543=)
c.1533G>T (p.Arg511=)
c.1140G>T (p.Arg380=)
c.1602G>T (p.Arg534=)
c.1536G>T (p.Arg512=)
c.567G>T (p.Arg189=)
20g.63413554C>GCA511339579KCNQ2c.1605G>C (p.Arg535=)
c.1659G>C (p.Arg553=)
c.1056G>C (p.Arg352=)
c.1566G>C (p.Arg522=)
c.1227G>C (p.Arg409=)
c.1575G>C (p.Arg525=)
c.1539G>C (p.Arg513=)
c.267G>C (p.Arg89=)
c.1656G>C (p.Arg552=)
c.1629G>C (p.Arg543=)
c.1533G>C (p.Arg511=)
c.1140G>C (p.Arg380=)
c.1602G>C (p.Arg534=)
c.1536G>C (p.Arg512=)
c.567G>C (p.Arg189=)
 gnomAD v4
20g.63413554C>TCA511339580KCNQ2c.1605G>A (p.Arg535=)
c.1659G>A (p.Arg553=)
c.1056G>A (p.Arg352=)
c.1566G>A (p.Arg522=)
c.1227G>A (p.Arg409=)
c.1575G>A (p.Arg525=)
c.1539G>A (p.Arg513=)
c.267G>A (p.Arg89=)
c.1656G>A (p.Arg552=)
c.1629G>A (p.Arg543=)
c.1533G>A (p.Arg511=)
c.1140G>A (p.Arg380=)
c.1602G>A (p.Arg534=)
c.1536G>A (p.Arg512=)
c.567G>A (p.Arg189=)
 COSMIC COSMIC COSMIC
20g.63413555C>ACA10654783KCNQ2c.1604G>T (p.Arg535Leu)
c.1658G>T (p.Arg553Leu)
c.1055G>T (p.Arg352Leu)
c.1565G>T (p.Arg522Leu)
c.1226G>T (p.Arg409Leu)
c.1574G>T (p.Arg525Leu)
c.1538G>T (p.Arg513Leu)
c.266G>T (p.Arg89Leu)
c.1655G>T (p.Arg552Leu)
c.1628G>T (p.Arg543Leu)
c.1532G>T (p.Arg511Leu)
c.1139G>T (p.Arg380Leu)
c.1601G>T (p.Arg534Leu)
c.1535G>T (p.Arg512Leu)
c.566G>T (p.Arg189Leu)
 ClinVar dbSNP
20g.63413555C=CA2374777986KCNQ2c.1604G= (p.Arg535=)
c.1658G= (p.Arg553=)
c.1055G= (p.Arg352=)
c.1565G= (p.Arg522=)
c.1226G= (p.Arg409=)
c.1574G= (p.Arg525=)
c.1538G= (p.Arg513=)
c.266G= (p.Arg89=)
c.1655G= (p.Arg552=)
c.1628G= (p.Arg543=)
c.1532G= (p.Arg511=)
c.1139G= (p.Arg380=)
c.1601G= (p.Arg534=)
c.1535G= (p.Arg512=)
c.566G= (p.Arg189=)
20g.63413555C>GCA409643977KCNQ2c.1604G>C (p.Arg535Pro)
c.1658G>C (p.Arg553Pro)
c.1055G>C (p.Arg352Pro)
c.1565G>C (p.Arg522Pro)
c.1226G>C (p.Arg409Pro)
c.1574G>C (p.Arg525Pro)
c.1538G>C (p.Arg513Pro)
c.266G>C (p.Arg89Pro)
c.1655G>C (p.Arg552Pro)
c.1628G>C (p.Arg543Pro)
c.1532G>C (p.Arg511Pro)
c.1139G>C (p.Arg380Pro)
c.1601G>C (p.Arg534Pro)
c.1535G>C (p.Arg512Pro)
c.566G>C (p.Arg189Pro)
 ClinVar dbSNP
20g.63413555C>TCA315465KCNQ2c.1604G>A (p.Arg535Gln)
c.1658G>A (p.Arg553Gln)
c.1055G>A (p.Arg352Gln)
c.1565G>A (p.Arg522Gln)
c.1226G>A (p.Arg409Gln)
c.1574G>A (p.Arg525Gln)
c.1538G>A (p.Arg513Gln)
c.266G>A (p.Arg89Gln)
c.1655G>A (p.Arg552Gln)
c.1628G>A (p.Arg543Gln)
c.1532G>A (p.Arg511Gln)
c.1139G>A (p.Arg380Gln)
c.1601G>A (p.Arg534Gln)
c.1535G>A (p.Arg512Gln)
c.566G>A (p.Arg189Gln)
 ClinVar dbSNP
20g.63413556G>ACA278566KCNQ2c.1603C>T (p.Arg535Trp)
c.1657C>T (p.Arg553Trp)
c.1054C>T (p.Arg352Trp)
c.1564C>T (p.Arg522Trp)
c.1225C>T (p.Arg409Trp)
c.1573C>T (p.Arg525Trp)
c.1537C>T (p.Arg513Trp)
c.265C>T (p.Arg89Trp)
c.1654C>T (p.Arg552Trp)
c.1627C>T (p.Arg543Trp)
c.1531C>T (p.Arg511Trp)
c.1138C>T (p.Arg380Trp)
c.1600C>T (p.Arg534Trp)
c.1534C>T (p.Arg512Trp)
c.565C>T (p.Arg189Trp)
 ClinVar dbSNP ExAC gnomAD v2
20g.63413556G>CCA409643979KCNQ2c.1603C>G (p.Arg535Gly)
c.1657C>G (p.Arg553Gly)
c.1054C>G (p.Arg352Gly)
c.1564C>G (p.Arg522Gly)
c.1225C>G (p.Arg409Gly)
c.1573C>G (p.Arg525Gly)
c.1537C>G (p.Arg513Gly)
c.265C>G (p.Arg89Gly)
c.1654C>G (p.Arg552Gly)
c.1627C>G (p.Arg543Gly)
c.1531C>G (p.Arg511Gly)
c.1138C>G (p.Arg380Gly)
c.1600C>G (p.Arg534Gly)
c.1534C>G (p.Arg512Gly)
c.565C>G (p.Arg189Gly)
 ClinVar
20g.63413556G=CA2374777987KCNQ2c.1603C= (p.Arg535=)
c.1657C= (p.Arg553=)
c.1054C= (p.Arg352=)
c.1564C= (p.Arg522=)
c.1225C= (p.Arg409=)
c.1573C= (p.Arg525=)
c.1537C= (p.Arg513=)
c.265C= (p.Arg89=)
c.1654C= (p.Arg552=)
c.1627C= (p.Arg543=)
c.1531C= (p.Arg511=)
c.1138C= (p.Arg380=)
c.1600C= (p.Arg534=)
c.1534C= (p.Arg512=)
c.565C= (p.Arg189=)
20g.63413556G>TCA9958330KCNQ2c.1603C>A (p.Arg535=)
c.1657C>A (p.Arg553=)
c.1054C>A (p.Arg352=)
c.1564C>A (p.Arg522=)
c.1225C>A (p.Arg409=)
c.1573C>A (p.Arg525=)
c.1537C>A (p.Arg513=)
c.265C>A (p.Arg89=)
c.1654C>A (p.Arg552=)
c.1627C>A (p.Arg543=)
c.1531C>A (p.Arg511=)
c.1138C>A (p.Arg380=)
c.1600C>A (p.Arg534=)
c.1534C>A (p.Arg512=)
c.565C>A (p.Arg189=)
 dbSNP ExAC gnomAD v4
20g.63413557C>ACA409643984KCNQ2c.1602G>T (p.Lys534Asn)
c.1656G>T (p.Lys552Asn)
c.1053G>T (p.Lys351Asn)
c.1563G>T (p.Lys521Asn)
c.1224G>T (p.Lys408Asn)
c.1572G>T (p.Lys524Asn)
c.1536G>T (p.Lys512Asn)
c.264G>T (p.Lys88Asn)
c.1653G>T (p.Lys551Asn)
c.1626G>T (p.Lys542Asn)
c.1530G>T (p.Lys510Asn)
c.1137G>T (p.Lys379Asn)
c.1599G>T (p.Lys533Asn)
c.1533G>T (p.Lys511Asn)
c.564G>T (p.Lys188Asn)
20g.63413557C>GCA409643987KCNQ2c.1602G>C (p.Lys534Asn)
c.1656G>C (p.Lys552Asn)
c.1053G>C (p.Lys351Asn)
c.1563G>C (p.Lys521Asn)
c.1224G>C (p.Lys408Asn)
c.1572G>C (p.Lys524Asn)
c.1536G>C (p.Lys512Asn)
c.264G>C (p.Lys88Asn)
c.1653G>C (p.Lys551Asn)
c.1626G>C (p.Lys542Asn)
c.1530G>C (p.Lys510Asn)
c.1137G>C (p.Lys379Asn)
c.1599G>C (p.Lys533Asn)
c.1533G>C (p.Lys511Asn)
c.564G>C (p.Lys188Asn)
20g.63413557C>TCA511339589KCNQ2c.1602G>A (p.Lys534=)
c.1656G>A (p.Lys552=)
c.1053G>A (p.Lys351=)
c.1563G>A (p.Lys521=)
c.1224G>A (p.Lys408=)
c.1572G>A (p.Lys524=)
c.1536G>A (p.Lys512=)
c.264G>A (p.Lys88=)
c.1653G>A (p.Lys551=)
c.1626G>A (p.Lys542=)
c.1530G>A (p.Lys510=)
c.1137G>A (p.Lys379=)
c.1599G>A (p.Lys533=)
c.1533G>A (p.Lys511=)
c.564G>A (p.Lys188=)
20g.63413558T>ACA409643989KCNQ2c.1601A>T (p.Lys534Met)
c.1655A>T (p.Lys552Met)
c.1052A>T (p.Lys351Met)
c.1562A>T (p.Lys521Met)
c.1223A>T (p.Lys408Met)
c.1571A>T (p.Lys524Met)
c.1535A>T (p.Lys512Met)
c.263A>T (p.Lys88Met)
c.1652A>T (p.Lys551Met)
c.1625A>T (p.Lys542Met)
c.1529A>T (p.Lys510Met)
c.1136A>T (p.Lys379Met)
c.1598A>T (p.Lys533Met)
c.1532A>T (p.Lys511Met)
c.563A>T (p.Lys188Met)
20g.63413558T>CCA409643992KCNQ2c.1601A>G (p.Lys534Arg)
c.1655A>G (p.Lys552Arg)
c.1052A>G (p.Lys351Arg)
c.1562A>G (p.Lys521Arg)
c.1223A>G (p.Lys408Arg)
c.1571A>G (p.Lys524Arg)
c.1535A>G (p.Lys512Arg)
c.263A>G (p.Lys88Arg)
c.1652A>G (p.Lys551Arg)
c.1625A>G (p.Lys542Arg)
c.1529A>G (p.Lys510Arg)
c.1136A>G (p.Lys379Arg)
c.1598A>G (p.Lys533Arg)
c.1532A>G (p.Lys511Arg)
c.563A>G (p.Lys188Arg)
 ClinVar dbSNP gnomAD v4
20g.63413558T>GCA10654784KCNQ2c.1601A>C (p.Lys534Thr)
c.1655A>C (p.Lys552Thr)
c.1052A>C (p.Lys351Thr)
c.1562A>C (p.Lys521Thr)
c.1223A>C (p.Lys408Thr)
c.1571A>C (p.Lys524Thr)
c.1535A>C (p.Lys512Thr)
c.263A>C (p.Lys88Thr)
c.1652A>C (p.Lys551Thr)
c.1625A>C (p.Lys542Thr)
c.1529A>C (p.Lys510Thr)
c.1136A>C (p.Lys379Thr)
c.1598A>C (p.Lys533Thr)
c.1532A>C (p.Lys511Thr)
c.563A>C (p.Lys188Thr)
 ClinVar dbSNP
20g.63413558T=CA2374777988KCNQ2c.1601A= (p.Lys534=)
c.1655A= (p.Lys552=)
c.1052A= (p.Lys351=)
c.1562A= (p.Lys521=)
c.1223A= (p.Lys408=)
c.1571A= (p.Lys524=)
c.1535A= (p.Lys512=)
c.263A= (p.Lys88=)
c.1652A= (p.Lys551=)
c.1625A= (p.Lys542=)
c.1529A= (p.Lys510=)
c.1136A= (p.Lys379=)
c.1598A= (p.Lys533=)
c.1532A= (p.Lys511=)
c.563A= (p.Lys188=)
20g.63413559T>ACA409643994KCNQ2c.1600A>T (p.Lys534Ter)
c.1654A>T (p.Lys552Ter)
c.1051A>T (p.Lys351Ter)
c.1561A>T (p.Lys521Ter)
c.1222A>T (p.Lys408Ter)
c.1570A>T (p.Lys524Ter)
c.1534A>T (p.Lys512Ter)
c.262A>T (p.Lys88Ter)
c.1651A>T (p.Lys551Ter)
c.1624A>T (p.Lys542Ter)
c.1528A>T (p.Lys510Ter)
c.1135A>T (p.Lys379Ter)
c.1597A>T (p.Lys533Ter)
c.1531A>T (p.Lys511Ter)
c.562A>T (p.Lys188Ter)
20g.63413559T>CCA409643999KCNQ2c.1600A>G (p.Lys534Glu)
c.1654A>G (p.Lys552Glu)
c.1051A>G (p.Lys351Glu)
c.1561A>G (p.Lys521Glu)
c.1222A>G (p.Lys408Glu)
c.1570A>G (p.Lys524Glu)
c.1534A>G (p.Lys512Glu)
c.262A>G (p.Lys88Glu)
c.1651A>G (p.Lys551Glu)
c.1624A>G (p.Lys542Glu)
c.1528A>G (p.Lys510Glu)
c.1135A>G (p.Lys379Glu)
c.1597A>G (p.Lys533Glu)
c.1531A>G (p.Lys511Glu)
c.562A>G (p.Lys188Glu)
20g.63413559T>GCA409643996KCNQ2c.1600A>C (p.Lys534Gln)
c.1654A>C (p.Lys552Gln)
c.1051A>C (p.Lys351Gln)
c.1561A>C (p.Lys521Gln)
c.1222A>C (p.Lys408Gln)
c.1570A>C (p.Lys524Gln)
c.1534A>C (p.Lys512Gln)
c.262A>C (p.Lys88Gln)
c.1651A>C (p.Lys551Gln)
c.1624A>C (p.Lys542Gln)
c.1528A>C (p.Lys510Gln)
c.1135A>C (p.Lys379Gln)
c.1597A>C (p.Lys533Gln)
c.1531A>C (p.Lys511Gln)
c.562A>C (p.Lys188Gln)
20g.63413560G>ACA511339602KCNQ2c.1599C>T (p.Ser533=)
c.1653C>T (p.Ser551=)
c.1050C>T (p.Ser350=)
c.1560C>T (p.Ser520=)
c.1221C>T (p.Ser407=)
c.1569C>T (p.Ser523=)
c.1533C>T (p.Ser511=)
c.261C>T (p.Ser87=)
c.1650C>T (p.Ser550=)
c.1623C>T (p.Ser541=)
c.1527C>T (p.Ser509=)
c.1134C>T (p.Ser378=)
c.1596C>T (p.Ser532=)
c.1530C>T (p.Ser510=)
c.561C>T (p.Ser187=)
20g.63413560G>CCA511339601KCNQ2c.1599C>G (p.Ser533=)
c.1653C>G (p.Ser551=)
c.1050C>G (p.Ser350=)
c.1560C>G (p.Ser520=)
c.1221C>G (p.Ser407=)
c.1569C>G (p.Ser523=)
c.1533C>G (p.Ser511=)
c.261C>G (p.Ser87=)
c.1650C>G (p.Ser550=)
c.1623C>G (p.Ser541=)
c.1527C>G (p.Ser509=)
c.1134C>G (p.Ser378=)
c.1596C>G (p.Ser532=)
c.1530C>G (p.Ser510=)
c.561C>G (p.Ser187=)
20g.63413560G>TCA511339600KCNQ2c.1599C>A (p.Ser533=)
c.1653C>A (p.Ser551=)
c.1050C>A (p.Ser350=)
c.1560C>A (p.Ser520=)
c.1221C>A (p.Ser407=)
c.1569C>A (p.Ser523=)
c.1533C>A (p.Ser511=)
c.261C>A (p.Ser87=)
c.1650C>A (p.Ser550=)
c.1623C>A (p.Ser541=)
c.1527C>A (p.Ser509=)
c.1134C>A (p.Ser378=)
c.1596C>A (p.Ser532=)
c.1530C>A (p.Ser510=)
c.561C>A (p.Ser187=)
20g.63413561G>ACA409644002KCNQ2c.1598C>T (p.Ser533Phe)
c.1652C>T (p.Ser551Phe)
c.1049C>T (p.Ser350Phe)
c.1559C>T (p.Ser520Phe)
c.1220C>T (p.Ser407Phe)
c.1568C>T (p.Ser523Phe)
c.1532C>T (p.Ser511Phe)
c.260C>T (p.Ser87Phe)
c.1649C>T (p.Ser550Phe)
c.1622C>T (p.Ser541Phe)
c.1526C>T (p.Ser509Phe)
c.1133C>T (p.Ser378Phe)
c.1595C>T (p.Ser532Phe)
c.1529C>T (p.Ser510Phe)
c.560C>T (p.Ser187Phe)
20g.63413561G>CCA409644004KCNQ2c.1598C>G (p.Ser533Cys)
c.1652C>G (p.Ser551Cys)
c.1049C>G (p.Ser350Cys)
c.1559C>G (p.Ser520Cys)
c.1220C>G (p.Ser407Cys)
c.1568C>G (p.Ser523Cys)
c.1532C>G (p.Ser511Cys)
c.260C>G (p.Ser87Cys)
c.1649C>G (p.Ser550Cys)
c.1622C>G (p.Ser541Cys)
c.1526C>G (p.Ser509Cys)
c.1133C>G (p.Ser378Cys)
c.1595C>G (p.Ser532Cys)
c.1529C>G (p.Ser510Cys)
c.560C>G (p.Ser187Cys)
 gnomAD v4
20g.63413561G>TCA409644003KCNQ2c.1598C>A (p.Ser533Tyr)
c.1652C>A (p.Ser551Tyr)
c.1049C>A (p.Ser350Tyr)
c.1559C>A (p.Ser520Tyr)
c.1220C>A (p.Ser407Tyr)
c.1568C>A (p.Ser523Tyr)
c.1532C>A (p.Ser511Tyr)
c.260C>A (p.Ser87Tyr)
c.1649C>A (p.Ser550Tyr)
c.1622C>A (p.Ser541Tyr)
c.1526C>A (p.Ser509Tyr)
c.1133C>A (p.Ser378Tyr)
c.1595C>A (p.Ser532Tyr)
c.1529C>A (p.Ser510Tyr)
c.560C>A (p.Ser187Tyr)
20g.63413562A=CA2374777989KCNQ2c.1597T= (p.Ser533=)
c.1651T= (p.Ser551=)
c.1048T= (p.Ser350=)
c.1558T= (p.Ser520=)
c.1219T= (p.Ser407=)
c.1567T= (p.Ser523=)
c.1531T= (p.Ser511=)
c.259T= (p.Ser87=)
c.1648T= (p.Ser550=)
c.1621T= (p.Ser541=)
c.1525T= (p.Ser509=)
c.1132T= (p.Ser378=)
c.1594T= (p.Ser532=)
c.1528T= (p.Ser510=)
c.559T= (p.Ser187=)
20g.63413562A>CCA409644006KCNQ2c.1597T>G (p.Ser533Ala)
c.1651T>G (p.Ser551Ala)
c.1048T>G (p.Ser350Ala)
c.1558T>G (p.Ser520Ala)
c.1219T>G (p.Ser407Ala)
c.1567T>G (p.Ser523Ala)
c.1531T>G (p.Ser511Ala)
c.259T>G (p.Ser87Ala)
c.1648T>G (p.Ser550Ala)
c.1621T>G (p.Ser541Ala)
c.1525T>G (p.Ser509Ala)
c.1132T>G (p.Ser378Ala)
c.1594T>G (p.Ser532Ala)
c.1528T>G (p.Ser510Ala)
c.559T>G (p.Ser187Ala)
20g.63413562A>GCA409644008KCNQ2c.1597T>C (p.Ser533Pro)
c.1651T>C (p.Ser551Pro)
c.1048T>C (p.Ser350Pro)
c.1558T>C (p.Ser520Pro)
c.1219T>C (p.Ser407Pro)
c.1567T>C (p.Ser523Pro)
c.1531T>C (p.Ser511Pro)
c.259T>C (p.Ser87Pro)
c.1648T>C (p.Ser550Pro)
c.1621T>C (p.Ser541Pro)
c.1525T>C (p.Ser509Pro)
c.1132T>C (p.Ser378Pro)
c.1594T>C (p.Ser532Pro)
c.1528T>C (p.Ser510Pro)
c.559T>C (p.Ser187Pro)
 ClinVar dbSNP
20g.63413562A>TCA409644010KCNQ2c.1597T>A (p.Ser533Thr)
c.1651T>A (p.Ser551Thr)
c.1048T>A (p.Ser350Thr)
c.1558T>A (p.Ser520Thr)
c.1219T>A (p.Ser407Thr)
c.1567T>A (p.Ser523Thr)
c.1531T>A (p.Ser511Thr)
c.259T>A (p.Ser87Thr)
c.1648T>A (p.Ser550Thr)
c.1621T>A (p.Ser541Thr)
c.1525T>A (p.Ser509Thr)
c.1132T>A (p.Ser378Thr)
c.1594T>A (p.Ser532Thr)
c.1528T>A (p.Ser510Thr)
c.559T>A (p.Ser187Thr)
20g.63413563C>ACA511339612KCNQ2c.1596G>T (p.Val532=)
c.1650G>T (p.Val550=)
c.1047G>T (p.Val349=)
c.1557G>T (p.Val519=)
c.1218G>T (p.Val406=)
c.1566G>T (p.Val522=)
c.1530G>T (p.Val510=)
c.258G>T (p.Val86=)
c.1647G>T (p.Val549=)
c.1620G>T (p.Val540=)
c.1524G>T (p.Val508=)
c.1131G>T (p.Val377=)
c.1593G>T (p.Val531=)
c.1527G>T (p.Val509=)
c.558G>T (p.Val186=)
20g.63413563C>GCA511339614KCNQ2c.1596G>C (p.Val532=)
c.1650G>C (p.Val550=)
c.1047G>C (p.Val349=)
c.1557G>C (p.Val519=)
c.1218G>C (p.Val406=)
c.1566G>C (p.Val522=)
c.1530G>C (p.Val510=)
c.258G>C (p.Val86=)
c.1647G>C (p.Val549=)
c.1620G>C (p.Val540=)
c.1524G>C (p.Val508=)
c.1131G>C (p.Val377=)
c.1593G>C (p.Val531=)
c.1527G>C (p.Val509=)
c.558G>C (p.Val186=)
20g.63413563C>TCA511339613KCNQ2c.1596G>A (p.Val532=)
c.1650G>A (p.Val550=)
c.1047G>A (p.Val349=)
c.1557G>A (p.Val519=)
c.1218G>A (p.Val406=)
c.1566G>A (p.Val522=)
c.1530G>A (p.Val510=)
c.258G>A (p.Val86=)
c.1647G>A (p.Val549=)
c.1620G>A (p.Val540=)
c.1524G>A (p.Val508=)
c.1131G>A (p.Val377=)
c.1593G>A (p.Val531=)
c.1527G>A (p.Val509=)
c.558G>A (p.Val186=)
20g.63413564A>CCA409644013KCNQ2c.1595T>G (p.Val532Gly)
c.1649T>G (p.Val550Gly)
c.1046T>G (p.Val349Gly)
c.1556T>G (p.Val519Gly)
c.1217T>G (p.Val406Gly)
c.1565T>G (p.Val522Gly)
c.1529T>G (p.Val510Gly)
c.257T>G (p.Val86Gly)
c.1646T>G (p.Val549Gly)
c.1619T>G (p.Val540Gly)
c.1523T>G (p.Val508Gly)
c.1130T>G (p.Val377Gly)
c.1592T>G (p.Val531Gly)
c.1526T>G (p.Val509Gly)
c.557T>G (p.Val186Gly)
 gnomAD v4
20g.63413564A>GCA409644014KCNQ2c.1595T>C (p.Val532Ala)
c.1649T>C (p.Val550Ala)
c.1046T>C (p.Val349Ala)
c.1556T>C (p.Val519Ala)
c.1217T>C (p.Val406Ala)
c.1565T>C (p.Val522Ala)
c.1529T>C (p.Val510Ala)
c.257T>C (p.Val86Ala)
c.1646T>C (p.Val549Ala)
c.1619T>C (p.Val540Ala)
c.1523T>C (p.Val508Ala)
c.1130T>C (p.Val377Ala)
c.1592T>C (p.Val531Ala)
c.1526T>C (p.Val509Ala)
c.557T>C (p.Val186Ala)
20g.63413564A>TCA409644015KCNQ2c.1595T>A (p.Val532Glu)
c.1649T>A (p.Val550Glu)
c.1046T>A (p.Val349Glu)
c.1556T>A (p.Val519Glu)
c.1217T>A (p.Val406Glu)
c.1565T>A (p.Val522Glu)
c.1529T>A (p.Val510Glu)
c.257T>A (p.Val86Glu)
c.1646T>A (p.Val549Glu)
c.1619T>A (p.Val540Glu)
c.1523T>A (p.Val508Glu)
c.1130T>A (p.Val377Glu)
c.1592T>A (p.Val531Glu)
c.1526T>A (p.Val509Glu)
c.557T>A (p.Val186Glu)
20g.63413565C>ACA409644017KCNQ2c.1594G>T (p.Val532Leu)
c.1648G>T (p.Val550Leu)
c.1045G>T (p.Val349Leu)
c.1555G>T (p.Val519Leu)
c.1216G>T (p.Val406Leu)
c.1564G>T (p.Val522Leu)
c.1528G>T (p.Val510Leu)
c.256G>T (p.Val86Leu)
c.1645G>T (p.Val549Leu)
c.1618G>T (p.Val540Leu)
c.1522G>T (p.Val508Leu)
c.1129G>T (p.Val377Leu)
c.1591G>T (p.Val531Leu)
c.1525G>T (p.Val509Leu)
c.556G>T (p.Val186Leu)
20g.63413565C=CA2374777990KCNQ2c.1594G= (p.Val532=)
c.1648G= (p.Val550=)
c.1045G= (p.Val349=)
c.1555G= (p.Val519=)
c.1216G= (p.Val406=)
c.1564G= (p.Val522=)
c.1528G= (p.Val510=)
c.256G= (p.Val86=)
c.1645G= (p.Val549=)
c.1618G= (p.Val540=)
c.1522G= (p.Val508=)
c.1129G= (p.Val377=)
c.1591G= (p.Val531=)
c.1525G= (p.Val509=)
c.556G= (p.Val186=)
20g.63413565C>GCA409644020KCNQ2c.1594G>C (p.Val532Leu)
c.1648G>C (p.Val550Leu)
c.1045G>C (p.Val349Leu)
c.1555G>C (p.Val519Leu)
c.1216G>C (p.Val406Leu)
c.1564G>C (p.Val522Leu)
c.1528G>C (p.Val510Leu)
c.256G>C (p.Val86Leu)
c.1645G>C (p.Val549Leu)
c.1618G>C (p.Val540Leu)
c.1522G>C (p.Val508Leu)
c.1129G>C (p.Val377Leu)
c.1591G>C (p.Val531Leu)
c.1525G>C (p.Val509Leu)
c.556G>C (p.Val186Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63413565C>TCA409644023KCNQ2c.1594G>A (p.Val532Met)
c.1648G>A (p.Val550Met)
c.1045G>A (p.Val349Met)
c.1555G>A (p.Val519Met)
c.1216G>A (p.Val406Met)
c.1564G>A (p.Val522Met)
c.1528G>A (p.Val510Met)
c.256G>A (p.Val86Met)
c.1645G>A (p.Val549Met)
c.1618G>A (p.Val540Met)
c.1522G>A (p.Val508Met)
c.1129G>A (p.Val377Met)
c.1591G>A (p.Val531Met)
c.1525G>A (p.Val509Met)
c.556G>A (p.Val186Met)
20g.63413566C>ACA511339621KCNQ2c.1593G>T (p.Leu531=)
c.1647G>T (p.Leu549=)
c.1044G>T (p.Leu348=)
c.1554G>T (p.Leu518=)
c.1215G>T (p.Leu405=)
c.1563G>T (p.Leu521=)
c.1527G>T (p.Leu509=)
c.255G>T (p.Leu85=)
c.1644G>T (p.Leu548=)
c.1617G>T (p.Leu539=)
c.1521G>T (p.Leu507=)
c.1128G>T (p.Leu376=)
c.1590G>T (p.Leu530=)
c.1524G>T (p.Leu508=)
c.555G>T (p.Leu185=)
20g.63413566C>GCA511339622KCNQ2c.1593G>C (p.Leu531=)
c.1647G>C (p.Leu549=)
c.1044G>C (p.Leu348=)
c.1554G>C (p.Leu518=)
c.1215G>C (p.Leu405=)
c.1563G>C (p.Leu521=)
c.1527G>C (p.Leu509=)
c.255G>C (p.Leu85=)
c.1644G>C (p.Leu548=)
c.1617G>C (p.Leu539=)
c.1521G>C (p.Leu507=)
c.1128G>C (p.Leu376=)
c.1590G>C (p.Leu530=)
c.1524G>C (p.Leu508=)
c.555G>C (p.Leu185=)
 gnomAD v4
20g.63413566C>TCA511339623KCNQ2c.1593G>A (p.Leu531=)
c.1647G>A (p.Leu549=)
c.1044G>A (p.Leu348=)
c.1554G>A (p.Leu518=)
c.1215G>A (p.Leu405=)
c.1563G>A (p.Leu521=)
c.1527G>A (p.Leu509=)
c.255G>A (p.Leu85=)
c.1644G>A (p.Leu548=)
c.1617G>A (p.Leu539=)
c.1521G>A (p.Leu507=)
c.1128G>A (p.Leu376=)
c.1590G>A (p.Leu530=)
c.1524G>A (p.Leu508=)
c.555G>A (p.Leu185=)
20g.63413567A>CCA409644025KCNQ2c.1592T>G (p.Leu531Arg)
c.1646T>G (p.Leu549Arg)
c.1043T>G (p.Leu348Arg)
c.1553T>G (p.Leu518Arg)
c.1214T>G (p.Leu405Arg)
c.1562T>G (p.Leu521Arg)
c.1526T>G (p.Leu509Arg)
c.254T>G (p.Leu85Arg)
c.1643T>G (p.Leu548Arg)
c.1616T>G (p.Leu539Arg)
c.1520T>G (p.Leu507Arg)
c.1127T>G (p.Leu376Arg)
c.1589T>G (p.Leu530Arg)
c.1523T>G (p.Leu508Arg)
c.554T>G (p.Leu185Arg)
 gnomAD v4
20g.63413567A>GCA409644028KCNQ2c.1592T>C (p.Leu531Pro)
c.1646T>C (p.Leu549Pro)
c.1043T>C (p.Leu348Pro)
c.1553T>C (p.Leu518Pro)
c.1214T>C (p.Leu405Pro)
c.1562T>C (p.Leu521Pro)
c.1526T>C (p.Leu509Pro)
c.254T>C (p.Leu85Pro)
c.1643T>C (p.Leu548Pro)
c.1616T>C (p.Leu539Pro)
c.1520T>C (p.Leu507Pro)
c.1127T>C (p.Leu376Pro)
c.1589T>C (p.Leu530Pro)
c.1523T>C (p.Leu508Pro)
c.554T>C (p.Leu185Pro)
 ClinVar
20g.63413567A>TCA409644031KCNQ2c.1592T>A (p.Leu531Gln)
c.1646T>A (p.Leu549Gln)
c.1043T>A (p.Leu348Gln)
c.1553T>A (p.Leu518Gln)
c.1214T>A (p.Leu405Gln)
c.1562T>A (p.Leu521Gln)
c.1526T>A (p.Leu509Gln)
c.254T>A (p.Leu85Gln)
c.1643T>A (p.Leu548Gln)
c.1616T>A (p.Leu539Gln)
c.1520T>A (p.Leu507Gln)
c.1127T>A (p.Leu376Gln)
c.1589T>A (p.Leu530Gln)
c.1523T>A (p.Leu508Gln)
c.554T>A (p.Leu185Gln)
 gnomAD v4
20g.63413568G>ACA511339630KCNQ2c.1591C>T (p.Leu531=)
c.1645C>T (p.Leu549=)
c.1042C>T (p.Leu348=)
c.1552C>T (p.Leu518=)
c.1213C>T (p.Leu405=)
c.1561C>T (p.Leu521=)
c.1525C>T (p.Leu509=)
c.253C>T (p.Leu85=)
c.1642C>T (p.Leu548=)
c.1615C>T (p.Leu539=)
c.1519C>T (p.Leu507=)
c.1126C>T (p.Leu376=)
c.1588C>T (p.Leu530=)
c.1522C>T (p.Leu508=)
c.553C>T (p.Leu185=)
20g.63413568G>CCA409644036KCNQ2c.1591C>G (p.Leu531Val)
c.1645C>G (p.Leu549Val)
c.1042C>G (p.Leu348Val)
c.1552C>G (p.Leu518Val)
c.1213C>G (p.Leu405Val)
c.1561C>G (p.Leu521Val)
c.1525C>G (p.Leu509Val)
c.253C>G (p.Leu85Val)
c.1642C>G (p.Leu548Val)
c.1615C>G (p.Leu539Val)
c.1519C>G (p.Leu507Val)
c.1126C>G (p.Leu376Val)
c.1588C>G (p.Leu530Val)
c.1522C>G (p.Leu508Val)
c.553C>G (p.Leu185Val)
20g.63413568G>TCA409644035KCNQ2c.1591C>A (p.Leu531Met)
c.1645C>A (p.Leu549Met)
c.1042C>A (p.Leu348Met)
c.1552C>A (p.Leu518Met)
c.1213C>A (p.Leu405Met)
c.1561C>A (p.Leu521Met)
c.1525C>A (p.Leu509Met)
c.253C>A (p.Leu85Met)
c.1642C>A (p.Leu548Met)
c.1615C>A (p.Leu539Met)
c.1519C>A (p.Leu507Met)
c.1126C>A (p.Leu376Met)
c.1588C>A (p.Leu530Met)
c.1522C>A (p.Leu508Met)
c.553C>A (p.Leu185Met)
20g.63413569G>ACA511339632KCNQ2c.1590C>T (p.Phe530=)
c.1644C>T (p.Phe548=)
c.1041C>T (p.Phe347=)
c.1551C>T (p.Phe517=)
c.1212C>T (p.Phe404=)
c.1560C>T (p.Phe520=)
c.1524C>T (p.Phe508=)
c.252C>T (p.Phe84=)
c.1641C>T (p.Phe547=)
c.1614C>T (p.Phe538=)
c.1518C>T (p.Phe506=)
c.1125C>T (p.Phe375=)
c.1587C>T (p.Phe529=)
c.1521C>T (p.Phe507=)
c.552C>T (p.Phe184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63413569G>CCA409644037KCNQ2c.1590C>G (p.Phe530Leu)
c.1644C>G (p.Phe548Leu)
c.1041C>G (p.Phe347Leu)
c.1551C>G (p.Phe517Leu)
c.1212C>G (p.Phe404Leu)
c.1560C>G (p.Phe520Leu)
c.1524C>G (p.Phe508Leu)
c.252C>G (p.Phe84Leu)
c.1641C>G (p.Phe547Leu)
c.1614C>G (p.Phe538Leu)
c.1518C>G (p.Phe506Leu)
c.1125C>G (p.Phe375Leu)
c.1587C>G (p.Phe529Leu)
c.1521C>G (p.Phe507Leu)
c.552C>G (p.Phe184Leu)
 gnomAD v4
20g.63413569G=CA2374777991KCNQ2c.1590C= (p.Phe530=)
c.1644C= (p.Phe548=)
c.1041C= (p.Phe347=)
c.1551C= (p.Phe517=)
c.1212C= (p.Phe404=)
c.1560C= (p.Phe520=)
c.1524C= (p.Phe508=)
c.252C= (p.Phe84=)
c.1641C= (p.Phe547=)
c.1614C= (p.Phe538=)
c.1518C= (p.Phe506=)
c.1125C= (p.Phe375=)
c.1587C= (p.Phe529=)
c.1521C= (p.Phe507=)
c.552C= (p.Phe184=)
20g.63413569G>TCA409644038KCNQ2c.1590C>A (p.Phe530Leu)
c.1644C>A (p.Phe548Leu)
c.1041C>A (p.Phe347Leu)
c.1551C>A (p.Phe517Leu)
c.1212C>A (p.Phe404Leu)
c.1560C>A (p.Phe520Leu)
c.1524C>A (p.Phe508Leu)
c.252C>A (p.Phe84Leu)
c.1641C>A (p.Phe547Leu)
c.1614C>A (p.Phe538Leu)
c.1518C>A (p.Phe506Leu)
c.1125C>A (p.Phe375Leu)
c.1587C>A (p.Phe529Leu)
c.1521C>A (p.Phe507Leu)
c.552C>A (p.Phe184Leu)
 ClinVar gnomAD v4
20g.63413570A>CCA409644039KCNQ2c.1589T>G (p.Phe530Cys)
c.1643T>G (p.Phe548Cys)
c.1040T>G (p.Phe347Cys)
c.1550T>G (p.Phe517Cys)
c.1211T>G (p.Phe404Cys)
c.1559T>G (p.Phe520Cys)
c.1523T>G (p.Phe508Cys)
c.251T>G (p.Phe84Cys)
c.1640T>G (p.Phe547Cys)
c.1613T>G (p.Phe538Cys)
c.1517T>G (p.Phe506Cys)
c.1124T>G (p.Phe375Cys)
c.1586T>G (p.Phe529Cys)
c.1520T>G (p.Phe507Cys)
c.551T>G (p.Phe184Cys)
20g.63413570A>GCA409644040KCNQ2c.1589T>C (p.Phe530Ser)
c.1643T>C (p.Phe548Ser)
c.1040T>C (p.Phe347Ser)
c.1550T>C (p.Phe517Ser)
c.1211T>C (p.Phe404Ser)
c.1559T>C (p.Phe520Ser)
c.1523T>C (p.Phe508Ser)
c.251T>C (p.Phe84Ser)
c.1640T>C (p.Phe547Ser)
c.1613T>C (p.Phe538Ser)
c.1517T>C (p.Phe506Ser)
c.1124T>C (p.Phe375Ser)
c.1586T>C (p.Phe529Ser)
c.1520T>C (p.Phe507Ser)
c.551T>C (p.Phe184Ser)
20g.63413570A>TCA409644041KCNQ2c.1589T>A (p.Phe530Tyr)
c.1643T>A (p.Phe548Tyr)
c.1040T>A (p.Phe347Tyr)
c.1550T>A (p.Phe517Tyr)
c.1211T>A (p.Phe404Tyr)
c.1559T>A (p.Phe520Tyr)
c.1523T>A (p.Phe508Tyr)
c.251T>A (p.Phe84Tyr)
c.1640T>A (p.Phe547Tyr)
c.1613T>A (p.Phe538Tyr)
c.1517T>A (p.Phe506Tyr)
c.1124T>A (p.Phe375Tyr)
c.1586T>A (p.Phe529Tyr)
c.1520T>A (p.Phe507Tyr)
c.551T>A (p.Phe184Tyr)
20g.63413571A>CCA409644043KCNQ2c.1588T>G (p.Phe530Val)
c.1642T>G (p.Phe548Val)
c.1039T>G (p.Phe347Val)
c.1549T>G (p.Phe517Val)
c.1210T>G (p.Phe404Val)
c.1558T>G (p.Phe520Val)
c.1522T>G (p.Phe508Val)
c.250T>G (p.Phe84Val)
c.1639T>G (p.Phe547Val)
c.1612T>G (p.Phe538Val)
c.1516T>G (p.Phe506Val)
c.1123T>G (p.Phe375Val)
c.1585T>G (p.Phe529Val)
c.1519T>G (p.Phe507Val)
c.550T>G (p.Phe184Val)
 gnomAD v4
20g.63413571A>GCA409644044KCNQ2c.1588T>C (p.Phe530Leu)
c.1642T>C (p.Phe548Leu)
c.1039T>C (p.Phe347Leu)
c.1549T>C (p.Phe517Leu)
c.1210T>C (p.Phe404Leu)
c.1558T>C (p.Phe520Leu)
c.1522T>C (p.Phe508Leu)
c.250T>C (p.Phe84Leu)
c.1639T>C (p.Phe547Leu)
c.1612T>C (p.Phe538Leu)
c.1516T>C (p.Phe506Leu)
c.1123T>C (p.Phe375Leu)
c.1585T>C (p.Phe529Leu)
c.1519T>C (p.Phe507Leu)
c.550T>C (p.Phe184Leu)
20g.63413571A>TCA409644046KCNQ2c.1588T>A (p.Phe530Ile)
c.1642T>A (p.Phe548Ile)
c.1039T>A (p.Phe347Ile)
c.1549T>A (p.Phe517Ile)
c.1210T>A (p.Phe404Ile)
c.1558T>A (p.Phe520Ile)
c.1522T>A (p.Phe508Ile)
c.250T>A (p.Phe84Ile)
c.1639T>A (p.Phe547Ile)
c.1612T>A (p.Phe538Ile)
c.1516T>A (p.Phe506Ile)
c.1123T>A (p.Phe375Ile)
c.1585T>A (p.Phe529Ile)
c.1519T>A (p.Phe507Ile)
c.550T>A (p.Phe184Ile)
20g.63413572C>ACA511339645KCNQ2c.1587G>T (p.Arg529=)
c.1641G>T (p.Arg547=)
c.1038G>T (p.Arg346=)
c.1548G>T (p.Arg516=)
c.1209G>T (p.Arg403=)
c.1557G>T (p.Arg519=)
c.1521G>T (p.Arg507=)
c.249G>T (p.Arg83=)
c.1638G>T (p.Arg546=)
c.1611G>T (p.Arg537=)
c.1515G>T (p.Arg505=)
c.1122G>T (p.Arg374=)
c.1584G>T (p.Arg528=)
c.1518G>T (p.Arg506=)
c.549G>T (p.Arg183=)
20g.63413572C=CA2374777992KCNQ2c.1587G= (p.Arg529=)
c.1641G= (p.Arg547=)
c.1038G= (p.Arg346=)
c.1548G= (p.Arg516=)
c.1209G= (p.Arg403=)
c.1557G= (p.Arg519=)
c.1521G= (p.Arg507=)
c.249G= (p.Arg83=)
c.1638G= (p.Arg546=)
c.1611G= (p.Arg537=)
c.1515G= (p.Arg505=)
c.1122G= (p.Arg374=)
c.1584G= (p.Arg528=)
c.1518G= (p.Arg506=)
c.549G= (p.Arg183=)
20g.63413572C>GCA511339648KCNQ2c.1587G>C (p.Arg529=)
c.1641G>C (p.Arg547=)
c.1038G>C (p.Arg346=)
c.1548G>C (p.Arg516=)
c.1209G>C (p.Arg403=)
c.1557G>C (p.Arg519=)
c.1521G>C (p.Arg507=)
c.249G>C (p.Arg83=)
c.1638G>C (p.Arg546=)
c.1611G>C (p.Arg537=)
c.1515G>C (p.Arg505=)
c.1122G>C (p.Arg374=)
c.1584G>C (p.Arg528=)
c.1518G>C (p.Arg506=)
c.549G>C (p.Arg183=)
 dbSNP
20g.63413572C>TCA9958331KCNQ2c.1587G>A (p.Arg529=)
c.1641G>A (p.Arg547=)
c.1038G>A (p.Arg346=)
c.1548G>A (p.Arg516=)
c.1209G>A (p.Arg403=)
c.1557G>A (p.Arg519=)
c.1521G>A (p.Arg507=)
c.249G>A (p.Arg83=)
c.1638G>A (p.Arg546=)
c.1611G>A (p.Arg537=)
c.1515G>A (p.Arg505=)
c.1122G>A (p.Arg374=)
c.1584G>A (p.Arg528=)
c.1518G>A (p.Arg506=)
c.549G>A (p.Arg183=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63413573C>ACA409644050KCNQ2c.1586G>T (p.Arg529Leu)
c.1640G>T (p.Arg547Leu)
c.1037G>T (p.Arg346Leu)
c.1547G>T (p.Arg516Leu)
c.1208G>T (p.Arg403Leu)
c.1556G>T (p.Arg519Leu)
c.1520G>T (p.Arg507Leu)
c.248G>T (p.Arg83Leu)
c.1637G>T (p.Arg546Leu)
c.1610G>T (p.Arg537Leu)
c.1514G>T (p.Arg505Leu)
c.1121G>T (p.Arg374Leu)
c.1583G>T (p.Arg528Leu)
c.1517G>T (p.Arg506Leu)
c.548G>T (p.Arg183Leu)
 ClinVar
20g.63413573C=CA2374777993KCNQ2c.1586G= (p.Arg529=)
c.1640G= (p.Arg547=)
c.1037G= (p.Arg346=)
c.1547G= (p.Arg516=)
c.1208G= (p.Arg403=)
c.1556G= (p.Arg519=)
c.1520G= (p.Arg507=)
c.248G= (p.Arg83=)
c.1637G= (p.Arg546=)
c.1610G= (p.Arg537=)
c.1514G= (p.Arg505=)
c.1121G= (p.Arg374=)
c.1583G= (p.Arg528=)
c.1517G= (p.Arg506=)
c.548G= (p.Arg183=)
20g.63413573C>GCA409644053KCNQ2c.1586G>C (p.Arg529Pro)
c.1640G>C (p.Arg547Pro)
c.1037G>C (p.Arg346Pro)
c.1547G>C (p.Arg516Pro)
c.1208G>C (p.Arg403Pro)
c.1556G>C (p.Arg519Pro)
c.1520G>C (p.Arg507Pro)
c.248G>C (p.Arg83Pro)
c.1637G>C (p.Arg546Pro)
c.1610G>C (p.Arg537Pro)
c.1514G>C (p.Arg505Pro)
c.1121G>C (p.Arg374Pro)
c.1583G>C (p.Arg528Pro)
c.1517G>C (p.Arg506Pro)
c.548G>C (p.Arg183Pro)
20g.63413573C>TCA9958332KCNQ2c.1586G>A (p.Arg529Gln)
c.1640G>A (p.Arg547Gln)
c.1037G>A (p.Arg346Gln)
c.1547G>A (p.Arg516Gln)
c.1208G>A (p.Arg403Gln)
c.1556G>A (p.Arg519Gln)
c.1520G>A (p.Arg507Gln)
c.248G>A (p.Arg83Gln)
c.1637G>A (p.Arg546Gln)
c.1610G>A (p.Arg537Gln)
c.1514G>A (p.Arg505Gln)
c.1121G>A (p.Arg374Gln)
c.1583G>A (p.Arg528Gln)
c.1517G>A (p.Arg506Gln)
c.548G>A (p.Arg183Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63413574G>ACA315462KCNQ2c.1585C>T (p.Arg529Trp)
c.1639C>T (p.Arg547Trp)
c.1036C>T (p.Arg346Trp)
c.1546C>T (p.Arg516Trp)
c.1207C>T (p.Arg403Trp)
c.1555C>T (p.Arg519Trp)
c.1519C>T (p.Arg507Trp)
c.247C>T (p.Arg83Trp)
c.1636C>T (p.Arg546Trp)
c.1609C>T (p.Arg537Trp)
c.1513C>T (p.Arg505Trp)
c.1120C>T (p.Arg374Trp)
c.1582C>T (p.Arg528Trp)
c.1516C>T (p.Arg506Trp)
c.547C>T (p.Arg183Trp)
 ClinVar dbSNP gnomAD v4
20g.63413574G>CCA10576253KCNQ2c.1585C>G (p.Arg529Gly)
c.1639C>G (p.Arg547Gly)
c.1036C>G (p.Arg346Gly)
c.1546C>G (p.Arg516Gly)
c.1207C>G (p.Arg403Gly)
c.1555C>G (p.Arg519Gly)
c.1519C>G (p.Arg507Gly)
c.247C>G (p.Arg83Gly)
c.1636C>G (p.Arg546Gly)
c.1609C>G (p.Arg537Gly)
c.1513C>G (p.Arg505Gly)
c.1120C>G (p.Arg374Gly)
c.1582C>G (p.Arg528Gly)
c.1516C>G (p.Arg506Gly)
c.547C>G (p.Arg183Gly)
 ClinVar dbSNP gnomAD v4
20g.63413574G=CA2374777994KCNQ2c.1585C= (p.Arg529=)
c.1639C= (p.Arg547=)
c.1036C= (p.Arg346=)
c.1546C= (p.Arg516=)
c.1207C= (p.Arg403=)
c.1555C= (p.Arg519=)
c.1519C= (p.Arg507=)
c.247C= (p.Arg83=)
c.1636C= (p.Arg546=)
c.1609C= (p.Arg537=)
c.1513C= (p.Arg505=)
c.1120C= (p.Arg374=)
c.1582C= (p.Arg528=)
c.1516C= (p.Arg506=)
c.547C= (p.Arg183=)
20g.63413574G>TCA511339658KCNQ2c.1585C>A (p.Arg529=)
c.1639C>A (p.Arg547=)
c.1036C>A (p.Arg346=)
c.1546C>A (p.Arg516=)
c.1207C>A (p.Arg403=)
c.1555C>A (p.Arg519=)
c.1519C>A (p.Arg507=)
c.247C>A (p.Arg83=)
c.1636C>A (p.Arg546=)
c.1609C>A (p.Arg537=)
c.1513C>A (p.Arg505=)
c.1120C>A (p.Arg374=)
c.1582C>A (p.Arg528=)
c.1516C>A (p.Arg506=)
c.547C>A (p.Arg183=)
 gnomAD v4
20g.63413575C>ACA409644066KCNQ2c.1584G>T (p.Met528Ile)
c.1638G>T (p.Met546Ile)
c.1035G>T (p.Met345Ile)
c.1545G>T (p.Met515Ile)
c.1206G>T (p.Met402Ile)
c.1554G>T (p.Met518Ile)
c.1518G>T (p.Met506Ile)
c.246G>T (p.Met82Ile)
c.1635G>T (p.Met545Ile)
c.1608G>T (p.Met536Ile)
c.1512G>T (p.Met504Ile)
c.1119G>T (p.Met373Ile)
c.1581G>T (p.Met527Ile)
c.1515G>T (p.Met505Ile)
c.546G>T (p.Met182Ile)
 gnomAD v4
20g.63413575C=CA2374777995KCNQ2c.1584G= (p.Met528=)
c.1638G= (p.Met546=)
c.1035G= (p.Met345=)
c.1545G= (p.Met515=)
c.1206G= (p.Met402=)
c.1554G= (p.Met518=)
c.1518G= (p.Met506=)
c.246G= (p.Met82=)
c.1635G= (p.Met545=)
c.1608G= (p.Met536=)
c.1512G= (p.Met504=)
c.1119G= (p.Met373=)
c.1581G= (p.Met527=)
c.1515G= (p.Met505=)
c.546G= (p.Met182=)
20g.63413575C>GCA409644068KCNQ2c.1584G>C (p.Met528Ile)
c.1638G>C (p.Met546Ile)
c.1035G>C (p.Met345Ile)
c.1545G>C (p.Met515Ile)
c.1206G>C (p.Met402Ile)
c.1554G>C (p.Met518Ile)
c.1518G>C (p.Met506Ile)
c.246G>C (p.Met82Ile)
c.1635G>C (p.Met545Ile)
c.1608G>C (p.Met536Ile)
c.1512G>C (p.Met504Ile)
c.1119G>C (p.Met373Ile)
c.1581G>C (p.Met527Ile)
c.1515G>C (p.Met505Ile)
c.546G>C (p.Met182Ile)
20g.63413575C>TCA409644070KCNQ2c.1584G>A (p.Met528Ile)
c.1638G>A (p.Met546Ile)
c.1035G>A (p.Met345Ile)
c.1545G>A (p.Met515Ile)
c.1206G>A (p.Met402Ile)
c.1554G>A (p.Met518Ile)
c.1518G>A (p.Met506Ile)
c.246G>A (p.Met82Ile)
c.1635G>A (p.Met545Ile)
c.1608G>A (p.Met536Ile)
c.1512G>A (p.Met504Ile)
c.1119G>A (p.Met373Ile)
c.1581G>A (p.Met527Ile)
c.1515G>A (p.Met505Ile)
c.546G>A (p.Met182Ile)
 ClinVar dbSNP
20g.63413576A=CA2374777996KCNQ2c.1583T= (p.Met528=)
c.1637T= (p.Met546=)
c.1034T= (p.Met345=)
c.1544T= (p.Met515=)
c.1205T= (p.Met402=)
c.1553T= (p.Met518=)
c.1517T= (p.Met506=)
c.245T= (p.Met82=)
c.1634T= (p.Met545=)
c.1607T= (p.Met536=)
c.1511T= (p.Met504=)
c.1118T= (p.Met373=)
c.1580T= (p.Met527=)
c.1514T= (p.Met505=)
c.545T= (p.Met182=)
20g.63413576A>CCA409644073KCNQ2c.1583T>G (p.Met528Arg)
c.1637T>G (p.Met546Arg)
c.1034T>G (p.Met345Arg)
c.1544T>G (p.Met515Arg)
c.1205T>G (p.Met402Arg)
c.1553T>G (p.Met518Arg)
c.1517T>G (p.Met506Arg)
c.245T>G (p.Met82Arg)
c.1634T>G (p.Met545Arg)
c.1607T>G (p.Met536Arg)
c.1511T>G (p.Met504Arg)
c.1118T>G (p.Met373Arg)
c.1580T>G (p.Met527Arg)
c.1514T>G (p.Met505Arg)
c.545T>G (p.Met182Arg)
20g.63413576A>GCA10603677KCNQ2c.1583T>C (p.Met528Thr)
c.1637T>C (p.Met546Thr)
c.1034T>C (p.Met345Thr)
c.1544T>C (p.Met515Thr)
c.1205T>C (p.Met402Thr)
c.1553T>C (p.Met518Thr)
c.1517T>C (p.Met506Thr)
c.245T>C (p.Met82Thr)
c.1634T>C (p.Met545Thr)
c.1607T>C (p.Met536Thr)
c.1511T>C (p.Met504Thr)
c.1118T>C (p.Met373Thr)
c.1580T>C (p.Met527Thr)
c.1514T>C (p.Met505Thr)
c.545T>C (p.Met182Thr)
 ClinVar dbSNP
20g.63413576A>TCA409644076KCNQ2c.1583T>A (p.Met528Lys)
c.1637T>A (p.Met546Lys)
c.1034T>A (p.Met345Lys)
c.1544T>A (p.Met515Lys)
c.1205T>A (p.Met402Lys)
c.1553T>A (p.Met518Lys)
c.1517T>A (p.Met506Lys)
c.245T>A (p.Met82Lys)
c.1634T>A (p.Met545Lys)
c.1607T>A (p.Met536Lys)
c.1511T>A (p.Met504Lys)
c.1118T>A (p.Met373Lys)
c.1580T>A (p.Met527Lys)
c.1514T>A (p.Met505Lys)
c.545T>A (p.Met182Lys)
 gnomAD v4
20g.63413577T>ACA409644081KCNQ2c.1582A>T (p.Met528Leu)
c.1636A>T (p.Met546Leu)
c.1033A>T (p.Met345Leu)
c.1543A>T (p.Met515Leu)
c.1204A>T (p.Met402Leu)
c.1552A>T (p.Met518Leu)
c.1516A>T (p.Met506Leu)
c.244A>T (p.Met82Leu)
c.1633A>T (p.Met545Leu)
c.1606A>T (p.Met536Leu)
c.1510A>T (p.Met504Leu)
c.1117A>T (p.Met373Leu)
c.1579A>T (p.Met527Leu)
c.1513A>T (p.Met505Leu)
c.544A>T (p.Met182Leu)
20g.63413577T>CCA130531KCNQ2c.1582A>G (p.Met528Val)
c.1636A>G (p.Met546Val)
c.1033A>G (p.Met345Val)
c.1543A>G (p.Met515Val)
c.1204A>G (p.Met402Val)
c.1552A>G (p.Met518Val)
c.1516A>G (p.Met506Val)
c.244A>G (p.Met82Val)
c.1633A>G (p.Met545Val)
c.1606A>G (p.Met536Val)
c.1510A>G (p.Met504Val)
c.1117A>G (p.Met373Val)
c.1579A>G (p.Met527Val)
c.1513A>G (p.Met505Val)
c.544A>G (p.Met182Val)
 ClinVar dbSNP
20g.63413577T>GCA409644080KCNQ2c.1582A>C (p.Met528Leu)
c.1636A>C (p.Met546Leu)
c.1033A>C (p.Met345Leu)
c.1543A>C (p.Met515Leu)
c.1204A>C (p.Met402Leu)
c.1552A>C (p.Met518Leu)
c.1516A>C (p.Met506Leu)
c.244A>C (p.Met82Leu)
c.1633A>C (p.Met545Leu)
c.1606A>C (p.Met536Leu)
c.1510A>C (p.Met504Leu)
c.1117A>C (p.Met373Leu)
c.1579A>C (p.Met527Leu)
c.1513A>C (p.Met505Leu)
c.544A>C (p.Met182Leu)
20g.63413577T=CA2374777997KCNQ2c.1582A= (p.Met528=)
c.1636A= (p.Met546=)
c.1033A= (p.Met345=)
c.1543A= (p.Met515=)
c.1204A= (p.Met402=)
c.1552A= (p.Met518=)
c.1516A= (p.Met506=)
c.244A= (p.Met82=)
c.1633A= (p.Met545=)
c.1606A= (p.Met536=)
c.1510A= (p.Met504=)
c.1117A= (p.Met373=)
c.1579A= (p.Met527=)
c.1513A= (p.Met505=)
c.544A= (p.Met182=)
20g.63413578G>ACA9958334KCNQ2c.1581C>T (p.Val527=)
c.1635C>T (p.Val545=)
c.1032C>T (p.Val344=)
c.1542C>T (p.Val514=)
c.1203C>T (p.Val401=)
c.1551C>T (p.Val517=)
c.1515C>T (p.Val505=)
c.243C>T (p.Val81=)
c.1632C>T (p.Val544=)
c.1605C>T (p.Val535=)
c.1509C>T (p.Val503=)
c.1116C>T (p.Val372=)
c.1578C>T (p.Val526=)
c.1512C>T (p.Val504=)
c.543C>T (p.Val181=)
 dbSNP ExAC
20g.63413578G>CCA511339663KCNQ2c.1581C>G (p.Val527=)
c.1635C>G (p.Val545=)
c.1032C>G (p.Val344=)
c.1542C>G (p.Val514=)
c.1203C>G (p.Val401=)
c.1551C>G (p.Val517=)
c.1515C>G (p.Val505=)
c.243C>G (p.Val81=)
c.1632C>G (p.Val544=)
c.1605C>G (p.Val535=)
c.1509C>G (p.Val503=)
c.1116C>G (p.Val372=)
c.1578C>G (p.Val526=)
c.1512C>G (p.Val504=)
c.543C>G (p.Val181=)
 gnomAD v4
20g.63413578G=CA2374777998KCNQ2c.1581C= (p.Val527=)
c.1635C= (p.Val545=)
c.1032C= (p.Val344=)
c.1542C= (p.Val514=)
c.1203C= (p.Val401=)
c.1551C= (p.Val517=)
c.1515C= (p.Val505=)
c.243C= (p.Val81=)
c.1632C= (p.Val544=)
c.1605C= (p.Val535=)
c.1509C= (p.Val503=)
c.1116C= (p.Val372=)
c.1578C= (p.Val526=)
c.1512C= (p.Val504=)
c.543C= (p.Val181=)
20g.63413578G>TCA9958333KCNQ2c.1581C>A (p.Val527=)
c.1635C>A (p.Val545=)
c.1032C>A (p.Val344=)
c.1542C>A (p.Val514=)
c.1203C>A (p.Val401=)
c.1551C>A (p.Val517=)
c.1515C>A (p.Val505=)
c.243C>A (p.Val81=)
c.1632C>A (p.Val544=)
c.1605C>A (p.Val535=)
c.1509C>A (p.Val503=)
c.1116C>A (p.Val372=)
c.1578C>A (p.Val526=)
c.1512C>A (p.Val504=)
c.543C>A (p.Val181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched