Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135770324G>ACA375506219KCNT1c.1646G>A (p.Trp549Ter)
c.1487G>A (p.Trp496Ter)
c.1394G>A (p.Trp465Ter)
c.1403G>A (p.Trp468Ter)
c.1547G>A (p.Trp516Ter)
c.*1256G>A (n.*1256G>A)
c.1529G>A (p.Trp510Ter)
c.1589G>A (p.Trp530Ter)
n.1465G>A
c.1511G>A (p.Trp504Ter)
c.1781G>A (p.Trp594Ter)
c.1790G>A (p.Trp597Ter)
c.1136G>A (p.Trp379Ter)
c.1580G>A (p.Trp527Ter)
9g.135770324G>CCA375506222KCNT1c.1646G>C (p.Trp549Ser)
c.1487G>C (p.Trp496Ser)
c.1394G>C (p.Trp465Ser)
c.1403G>C (p.Trp468Ser)
c.1547G>C (p.Trp516Ser)
c.*1256G>C (n.*1256G>C)
c.1529G>C (p.Trp510Ser)
c.1589G>C (p.Trp530Ser)
n.1465G>C
c.1511G>C (p.Trp504Ser)
c.1781G>C (p.Trp594Ser)
c.1790G>C (p.Trp597Ser)
c.1136G>C (p.Trp379Ser)
c.1580G>C (p.Trp527Ser)
9g.135770324G>TCA375506216KCNT1c.1646G>T (p.Trp549Leu)
c.1487G>T (p.Trp496Leu)
c.1394G>T (p.Trp465Leu)
c.1403G>T (p.Trp468Leu)
c.1547G>T (p.Trp516Leu)
c.*1256G>T (n.*1256G>T)
c.1529G>T (p.Trp510Leu)
c.1589G>T (p.Trp530Leu)
n.1465G>T
c.1511G>T (p.Trp504Leu)
c.1781G>T (p.Trp594Leu)
c.1790G>T (p.Trp597Leu)
c.1136G>T (p.Trp379Leu)
c.1580G>T (p.Trp527Leu)
9g.135770325G>ACA375506225KCNT1c.1647G>A (p.Trp549Ter)
c.1488G>A (p.Trp496Ter)
c.1395G>A (p.Trp465Ter)
c.1404G>A (p.Trp468Ter)
c.1548G>A (p.Trp516Ter)
c.*1257G>A (n.*1257G>A)
c.1530G>A (p.Trp510Ter)
c.1590G>A (p.Trp530Ter)
n.1466G>A
c.1512G>A (p.Trp504Ter)
c.1782G>A (p.Trp594Ter)
c.1791G>A (p.Trp597Ter)
c.1137G>A (p.Trp379Ter)
c.1581G>A (p.Trp527Ter)
9g.135770325G>CCA375506230KCNT1c.1647G>C (p.Trp549Cys)
c.1488G>C (p.Trp496Cys)
c.1395G>C (p.Trp465Cys)
c.1404G>C (p.Trp468Cys)
c.1548G>C (p.Trp516Cys)
c.*1257G>C (n.*1257G>C)
c.1530G>C (p.Trp510Cys)
c.1590G>C (p.Trp530Cys)
n.1466G>C
c.1512G>C (p.Trp504Cys)
c.1782G>C (p.Trp594Cys)
c.1791G>C (p.Trp597Cys)
c.1137G>C (p.Trp379Cys)
c.1581G>C (p.Trp527Cys)
9g.135770325G>TCA375506227KCNT1c.1647G>T (p.Trp549Cys)
c.1488G>T (p.Trp496Cys)
c.1395G>T (p.Trp465Cys)
c.1404G>T (p.Trp468Cys)
c.1548G>T (p.Trp516Cys)
c.*1257G>T (n.*1257G>T)
c.1530G>T (p.Trp510Cys)
c.1590G>T (p.Trp530Cys)
n.1466G>T
c.1512G>T (p.Trp504Cys)
c.1782G>T (p.Trp594Cys)
c.1791G>T (p.Trp597Cys)
c.1137G>T (p.Trp379Cys)
c.1581G>T (p.Trp527Cys)
9g.135770327_135770329delCA2695211724KCNT1c.1649_1651del (p.Gln550del)
c.1490_1492del (p.Gln497del)
c.1397_1399del (p.Gln466del)
c.1406_1408del (p.Gln469del)
c.1550_1552del (p.Gln517del)
c.*1259_*1261del (n.*1259_*1261del)
c.1532_1534del (p.Gln511del)
c.1592_1594del (p.Gln531del)
n.1468_1470del
c.1514_1516del (p.Gln505del)
c.1784_1786del (p.Gln595del)
c.1793_1795del (p.Gln598del)
c.1139_1141del (p.Gln380del)
c.1583_1585del (p.Gln528del)
9g.135770326C>ACA375506234KCNT1c.1648C>A (p.Gln550Lys)
c.1489C>A (p.Gln497Lys)
c.1396C>A (p.Gln466Lys)
c.1405C>A (p.Gln469Lys)
c.1549C>A (p.Gln517Lys)
c.*1258C>A (n.*1258C>A)
c.1531C>A (p.Gln511Lys)
c.1591C>A (p.Gln531Lys)
n.1467C>A
c.1513C>A (p.Gln505Lys)
c.1783C>A (p.Gln595Lys)
c.1792C>A (p.Gln598Lys)
c.1138C>A (p.Gln380Lys)
c.1582C>A (p.Gln528Lys)
9g.135770326C>GCA375506236KCNT1c.1648C>G (p.Gln550Glu)
c.1489C>G (p.Gln497Glu)
c.1396C>G (p.Gln466Glu)
c.1405C>G (p.Gln469Glu)
c.1549C>G (p.Gln517Glu)
c.*1258C>G (n.*1258C>G)
c.1531C>G (p.Gln511Glu)
c.1591C>G (p.Gln531Glu)
n.1467C>G
c.1513C>G (p.Gln505Glu)
c.1783C>G (p.Gln595Glu)
c.1792C>G (p.Gln598Glu)
c.1138C>G (p.Gln380Glu)
c.1582C>G (p.Gln528Glu)
9g.135770326C>TCA375506239KCNT1c.1648C>T (p.Gln550Ter)
c.1489C>T (p.Gln497Ter)
c.1396C>T (p.Gln466Ter)
c.1405C>T (p.Gln469Ter)
c.1549C>T (p.Gln517Ter)
c.*1258C>T (n.*1258C>T)
c.1531C>T (p.Gln511Ter)
c.1591C>T (p.Gln531Ter)
n.1467C>T
c.1513C>T (p.Gln505Ter)
c.1783C>T (p.Gln595Ter)
c.1792C>T (p.Gln598Ter)
c.1138C>T (p.Gln380Ter)
c.1582C>T (p.Gln528Ter)
9g.135770327A>CCA375506241KCNT1c.1649A>C (p.Gln550Pro)
c.1490A>C (p.Gln497Pro)
c.1397A>C (p.Gln466Pro)
c.1406A>C (p.Gln469Pro)
c.1550A>C (p.Gln517Pro)
c.*1259A>C (n.*1259A>C)
c.1532A>C (p.Gln511Pro)
c.1592A>C (p.Gln531Pro)
n.1468A>C
c.1514A>C (p.Gln505Pro)
c.1784A>C (p.Gln595Pro)
c.1793A>C (p.Gln598Pro)
c.1139A>C (p.Gln380Pro)
c.1583A>C (p.Gln528Pro)
9g.135770327A>GCA375506244KCNT1c.1649A>G (p.Gln550Arg)
c.1490A>G (p.Gln497Arg)
c.1397A>G (p.Gln466Arg)
c.1406A>G (p.Gln469Arg)
c.1550A>G (p.Gln517Arg)
c.*1259A>G (n.*1259A>G)
c.1532A>G (p.Gln511Arg)
c.1592A>G (p.Gln531Arg)
n.1468A>G
c.1514A>G (p.Gln505Arg)
c.1784A>G (p.Gln595Arg)
c.1793A>G (p.Gln598Arg)
c.1139A>G (p.Gln380Arg)
c.1583A>G (p.Gln528Arg)
9g.135770327A>TCA375506247KCNT1c.1649A>T (p.Gln550Leu)
c.1490A>T (p.Gln497Leu)
c.1397A>T (p.Gln466Leu)
c.1406A>T (p.Gln469Leu)
c.1550A>T (p.Gln517Leu)
c.*1259A>T (n.*1259A>T)
c.1532A>T (p.Gln511Leu)
c.1592A>T (p.Gln531Leu)
n.1468A>T
c.1514A>T (p.Gln505Leu)
c.1784A>T (p.Gln595Leu)
c.1793A>T (p.Gln598Leu)
c.1139A>T (p.Gln380Leu)
c.1583A>T (p.Gln528Leu)
9g.135770328G>ACA467698506KCNT1c.1650G>A (p.Gln550=)
c.1491G>A (p.Gln497=)
c.1398G>A (p.Gln466=)
c.1407G>A (p.Gln469=)
c.1551G>A (p.Gln517=)
c.*1260G>A (n.*1260G>A)
c.1533G>A (p.Gln511=)
c.1593G>A (p.Gln531=)
n.1469G>A
c.1515G>A (p.Gln505=)
c.1785G>A (p.Gln595=)
c.1794G>A (p.Gln598=)
c.1140G>A (p.Gln380=)
c.1584G>A (p.Gln528=)
9g.135770328G>CCA375506250KCNT1c.1650G>C (p.Gln550His)
c.1491G>C (p.Gln497His)
c.1398G>C (p.Gln466His)
c.1407G>C (p.Gln469His)
c.1551G>C (p.Gln517His)
c.*1260G>C (n.*1260G>C)
c.1533G>C (p.Gln511His)
c.1593G>C (p.Gln531His)
n.1469G>C
c.1515G>C (p.Gln505His)
c.1785G>C (p.Gln595His)
c.1794G>C (p.Gln598His)
c.1140G>C (p.Gln380His)
c.1584G>C (p.Gln528His)
9g.135770328G>TCA375506255KCNT1c.1650G>T (p.Gln550His)
c.1491G>T (p.Gln497His)
c.1398G>T (p.Gln466His)
c.1407G>T (p.Gln469His)
c.1551G>T (p.Gln517His)
c.*1260G>T (n.*1260G>T)
c.1533G>T (p.Gln511His)
c.1593G>T (p.Gln531His)
n.1469G>T
c.1515G>T (p.Gln505His)
c.1785G>T (p.Gln595His)
c.1794G>T (p.Gln598His)
c.1140G>T (p.Gln380His)
c.1584G>T (p.Gln528His)
9g.135770329C>ACA375506257KCNT1c.1651C>A (p.Arg551Ser)
c.1492C>A (p.Arg498Ser)
c.1399C>A (p.Arg467Ser)
c.1408C>A (p.Arg470Ser)
c.1552C>A (p.Arg518Ser)
c.*1261C>A (n.*1261C>A)
c.1534C>A (p.Arg512Ser)
c.1594C>A (p.Arg532Ser)
n.1470C>A
c.1516C>A (p.Arg506Ser)
c.1786C>A (p.Arg596Ser)
c.1795C>A (p.Arg599Ser)
c.1141C>A (p.Arg381Ser)
c.1585C>A (p.Arg529Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.135770329C=CA1883873284KCNT1c.1651C= (p.Arg551=)
c.1492C= (p.Arg498=)
c.1399C= (p.Arg467=)
c.1408C= (p.Arg470=)
c.1552C= (p.Arg518=)
c.*1261C= (n.*1261C=)
c.1534C= (p.Arg512=)
c.1594C= (p.Arg532=)
n.1470C=
c.1516C= (p.Arg506=)
c.1786C= (p.Arg596=)
c.1795C= (p.Arg599=)
c.1141C= (p.Arg381=)
c.1585C= (p.Arg529=)
9g.135770329C>GCA375506260KCNT1c.1651C>G (p.Arg551Gly)
c.1492C>G (p.Arg498Gly)
c.1399C>G (p.Arg467Gly)
c.1408C>G (p.Arg470Gly)
c.1552C>G (p.Arg518Gly)
c.*1261C>G (n.*1261C>G)
c.1534C>G (p.Arg512Gly)
c.1594C>G (p.Arg532Gly)
n.1470C>G
c.1516C>G (p.Arg506Gly)
c.1786C>G (p.Arg596Gly)
c.1795C>G (p.Arg599Gly)
c.1141C>G (p.Arg381Gly)
c.1585C>G (p.Arg529Gly)
9g.135770329C>TCA5327017KCNT1c.1651C>T (p.Arg551Cys)
c.1492C>T (p.Arg498Cys)
c.1399C>T (p.Arg467Cys)
c.1408C>T (p.Arg470Cys)
c.1552C>T (p.Arg518Cys)
c.*1261C>T (n.*1261C>T)
c.1534C>T (p.Arg512Cys)
c.1594C>T (p.Arg532Cys)
n.1470C>T
c.1516C>T (p.Arg506Cys)
c.1786C>T (p.Arg596Cys)
c.1795C>T (p.Arg599Cys)
c.1141C>T (p.Arg381Cys)
c.1585C>T (p.Arg529Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770330G>ACA5327018KCNT1c.1652G>A (p.Arg551His)
c.1493G>A (p.Arg498His)
c.1400G>A (p.Arg467His)
c.1409G>A (p.Arg470His)
c.1553G>A (p.Arg518His)
c.*1262G>A (n.*1262G>A)
c.1535G>A (p.Arg512His)
c.1595G>A (p.Arg532His)
n.1471G>A
c.1517G>A (p.Arg506His)
c.1787G>A (p.Arg596His)
c.1796G>A (p.Arg599His)
c.1142G>A (p.Arg381His)
c.1586G>A (p.Arg529His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770330G>CCA375506267KCNT1c.1652G>C (p.Arg551Pro)
c.1493G>C (p.Arg498Pro)
c.1400G>C (p.Arg467Pro)
c.1409G>C (p.Arg470Pro)
c.1553G>C (p.Arg518Pro)
c.*1262G>C (n.*1262G>C)
c.1535G>C (p.Arg512Pro)
c.1595G>C (p.Arg532Pro)
n.1471G>C
c.1517G>C (p.Arg506Pro)
c.1787G>C (p.Arg596Pro)
c.1796G>C (p.Arg599Pro)
c.1142G>C (p.Arg381Pro)
c.1586G>C (p.Arg529Pro)
9g.135770330G=CA1883873292KCNT1c.1652G= (p.Arg551=)
c.1493G= (p.Arg498=)
c.1400G= (p.Arg467=)
c.1409G= (p.Arg470=)
c.1553G= (p.Arg518=)
c.*1262G= (n.*1262G=)
c.1535G= (p.Arg512=)
c.1595G= (p.Arg532=)
n.1471G=
c.1517G= (p.Arg506=)
c.1787G= (p.Arg596=)
c.1796G= (p.Arg599=)
c.1142G= (p.Arg381=)
c.1586G= (p.Arg529=)
9g.135770330G>TCA375506265KCNT1c.1652G>T (p.Arg551Leu)
c.1493G>T (p.Arg498Leu)
c.1400G>T (p.Arg467Leu)
c.1409G>T (p.Arg470Leu)
c.1553G>T (p.Arg518Leu)
c.*1262G>T (n.*1262G>T)
c.1535G>T (p.Arg512Leu)
c.1595G>T (p.Arg532Leu)
n.1471G>T
c.1517G>T (p.Arg506Leu)
c.1787G>T (p.Arg596Leu)
c.1796G>T (p.Arg599Leu)
c.1142G>T (p.Arg381Leu)
c.1586G>T (p.Arg529Leu)
 ClinVar dbSNP
9g.135770331C>ACA467698507KCNT1c.1653C>A (p.Arg551=)
c.1494C>A (p.Arg498=)
c.1401C>A (p.Arg467=)
c.1410C>A (p.Arg470=)
c.1554C>A (p.Arg518=)
c.*1263C>A (n.*1263C>A)
c.1536C>A (p.Arg512=)
c.1596C>A (p.Arg532=)
n.1472C>A
c.1518C>A (p.Arg506=)
c.1788C>A (p.Arg596=)
c.1797C>A (p.Arg599=)
c.1143C>A (p.Arg381=)
c.1587C>A (p.Arg529=)
9g.135770331C=CA1883873299KCNT1c.1653C= (p.Arg551=)
c.1494C= (p.Arg498=)
c.1401C= (p.Arg467=)
c.1410C= (p.Arg470=)
c.1554C= (p.Arg518=)
c.*1263C= (n.*1263C=)
c.1536C= (p.Arg512=)
c.1596C= (p.Arg532=)
n.1472C=
c.1518C= (p.Arg506=)
c.1788C= (p.Arg596=)
c.1797C= (p.Arg599=)
c.1143C= (p.Arg381=)
c.1587C= (p.Arg529=)
9g.135770331C>GCA467698509KCNT1c.1653C>G (p.Arg551=)
c.1494C>G (p.Arg498=)
c.1401C>G (p.Arg467=)
c.1410C>G (p.Arg470=)
c.1554C>G (p.Arg518=)
c.*1263C>G (n.*1263C>G)
c.1536C>G (p.Arg512=)
c.1596C>G (p.Arg532=)
n.1472C>G
c.1518C>G (p.Arg506=)
c.1788C>G (p.Arg596=)
c.1797C>G (p.Arg599=)
c.1143C>G (p.Arg381=)
c.1587C>G (p.Arg529=)
9g.135770331C>TCA467698508KCNT1c.1653C>T (p.Arg551=)
c.1494C>T (p.Arg498=)
c.1401C>T (p.Arg467=)
c.1410C>T (p.Arg470=)
c.1554C>T (p.Arg518=)
c.*1263C>T (n.*1263C>T)
c.1536C>T (p.Arg512=)
c.1596C>T (p.Arg532=)
n.1472C>T
c.1518C>T (p.Arg506=)
c.1788C>T (p.Arg596=)
c.1797C>T (p.Arg599=)
c.1143C>T (p.Arg381=)
c.1587C>T (p.Arg529=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.135770331dupCA2692518791KCNT1c.1653dup (p.Met552HisfsTer17)
c.1494dup (p.Met499HisfsTer17)
c.1401dup (p.Met468HisfsTer17)
c.1410dup (p.Met471HisfsTer17)
c.1554dup (p.Met519HisfsTer17)
c.*1263dup (n.*1263dup)
c.1536dup (p.Met513HisfsTer17)
c.1596dup (p.Met533HisfsTer17)
n.1472dup
c.1518dup (p.Met507HisfsTer17)
c.1788dup (p.Met597HisfsTer17)
c.1797dup (p.Met600HisfsTer17)
c.1143dup (p.Met382HisfsTer17)
c.1587dup (p.Met530HisfsTer17)
 gnomAD v4
9g.135770332A>CCA375506278KCNT1c.1654A>C (p.Met552Leu)
c.1495A>C (p.Met499Leu)
c.1402A>C (p.Met468Leu)
c.1411A>C (p.Met471Leu)
c.1555A>C (p.Met519Leu)
c.*1264A>C (n.*1264A>C)
c.1537A>C (p.Met513Leu)
c.1597A>C (p.Met533Leu)
n.1473A>C
c.1519A>C (p.Met507Leu)
c.1789A>C (p.Met597Leu)
c.1798A>C (p.Met600Leu)
c.1144A>C (p.Met382Leu)
c.1588A>C (p.Met530Leu)
9g.135770332A>GCA375506281KCNT1c.1654A>G (p.Met552Val)
c.1495A>G (p.Met499Val)
c.1402A>G (p.Met468Val)
c.1411A>G (p.Met471Val)
c.1555A>G (p.Met519Val)
c.*1264A>G (n.*1264A>G)
c.1537A>G (p.Met513Val)
c.1597A>G (p.Met533Val)
n.1473A>G
c.1519A>G (p.Met507Val)
c.1789A>G (p.Met597Val)
c.1798A>G (p.Met600Val)
c.1144A>G (p.Met382Val)
c.1588A>G (p.Met530Val)
 ClinVar dbSNP gnomAD v4
9g.135770332A>TCA375506285KCNT1c.1654A>T (p.Met552Leu)
c.1495A>T (p.Met499Leu)
c.1402A>T (p.Met468Leu)
c.1411A>T (p.Met471Leu)
c.1555A>T (p.Met519Leu)
c.*1264A>T (n.*1264A>T)
c.1537A>T (p.Met513Leu)
c.1597A>T (p.Met533Leu)
n.1473A>T
c.1519A>T (p.Met507Leu)
c.1789A>T (p.Met597Leu)
c.1798A>T (p.Met600Leu)
c.1144A>T (p.Met382Leu)
c.1588A>T (p.Met530Leu)
9g.135770333T>ACA375506290KCNT1c.1655T>A (p.Met552Lys)
c.1496T>A (p.Met499Lys)
c.1403T>A (p.Met468Lys)
c.1412T>A (p.Met471Lys)
c.1556T>A (p.Met519Lys)
c.*1265T>A (n.*1265T>A)
c.1538T>A (p.Met513Lys)
c.1598T>A (p.Met533Lys)
n.1474T>A
c.1520T>A (p.Met507Lys)
c.1790T>A (p.Met597Lys)
c.1799T>A (p.Met600Lys)
c.1145T>A (p.Met382Lys)
c.1589T>A (p.Met530Lys)
9g.135770333T>CCA375506291KCNT1c.1655T>C (p.Met552Thr)
c.1496T>C (p.Met499Thr)
c.1403T>C (p.Met468Thr)
c.1412T>C (p.Met471Thr)
c.1556T>C (p.Met519Thr)
c.*1265T>C (n.*1265T>C)
c.1538T>C (p.Met513Thr)
c.1598T>C (p.Met533Thr)
n.1474T>C
c.1520T>C (p.Met507Thr)
c.1790T>C (p.Met597Thr)
c.1799T>C (p.Met600Thr)
c.1145T>C (p.Met382Thr)
c.1589T>C (p.Met530Thr)
9g.135770333T>GCA375506292KCNT1c.1655T>G (p.Met552Arg)
c.1496T>G (p.Met499Arg)
c.1403T>G (p.Met468Arg)
c.1412T>G (p.Met471Arg)
c.1556T>G (p.Met519Arg)
c.*1265T>G (n.*1265T>G)
c.1538T>G (p.Met513Arg)
c.1598T>G (p.Met533Arg)
n.1474T>G
c.1520T>G (p.Met507Arg)
c.1790T>G (p.Met597Arg)
c.1799T>G (p.Met600Arg)
c.1145T>G (p.Met382Arg)
c.1589T>G (p.Met530Arg)
9g.135770334G>ACA375506295KCNT1c.1656G>A (p.Met552Ile)
c.1497G>A (p.Met499Ile)
c.1404G>A (p.Met468Ile)
c.1413G>A (p.Met471Ile)
c.1557G>A (p.Met519Ile)
c.*1266G>A (n.*1266G>A)
c.1539G>A (p.Met513Ile)
c.1599G>A (p.Met533Ile)
n.1475G>A
c.1521G>A (p.Met507Ile)
c.1791G>A (p.Met597Ile)
c.1800G>A (p.Met600Ile)
c.1146G>A (p.Met382Ile)
c.1590G>A (p.Met530Ile)
 dbSNP gnomAD v4
9g.135770334G>CCA375506298KCNT1c.1656G>C (p.Met552Ile)
c.1497G>C (p.Met499Ile)
c.1404G>C (p.Met468Ile)
c.1413G>C (p.Met471Ile)
c.1557G>C (p.Met519Ile)
c.*1266G>C (n.*1266G>C)
c.1539G>C (p.Met513Ile)
c.1599G>C (p.Met533Ile)
n.1475G>C
c.1521G>C (p.Met507Ile)
c.1791G>C (p.Met597Ile)
c.1800G>C (p.Met600Ile)
c.1146G>C (p.Met382Ile)
c.1590G>C (p.Met530Ile)
 gnomAD v4
9g.135770334G=CA1883873303KCNT1c.1656G= (p.Met552=)
c.1497G= (p.Met499=)
c.1404G= (p.Met468=)
c.1413G= (p.Met471=)
c.1557G= (p.Met519=)
c.*1266G= (n.*1266G=)
c.1539G= (p.Met513=)
c.1599G= (p.Met533=)
n.1475G=
c.1521G= (p.Met507=)
c.1791G= (p.Met597=)
c.1800G= (p.Met600=)
c.1146G= (p.Met382=)
c.1590G= (p.Met530=)
9g.135770334G>TCA375506301KCNT1c.1656G>T (p.Met552Ile)
c.1497G>T (p.Met499Ile)
c.1404G>T (p.Met468Ile)
c.1413G>T (p.Met471Ile)
c.1557G>T (p.Met519Ile)
c.*1266G>T (n.*1266G>T)
c.1539G>T (p.Met513Ile)
c.1599G>T (p.Met533Ile)
n.1475G>T
c.1521G>T (p.Met507Ile)
c.1791G>T (p.Met597Ile)
c.1800G>T (p.Met600Ile)
c.1146G>T (p.Met382Ile)
c.1590G>T (p.Met530Ile)
 dbSNP gnomAD v4
9g.135770335T>ACA375506303KCNT1c.1657T>A (p.Tyr553Asn)
c.1498T>A (p.Tyr500Asn)
c.1405T>A (p.Tyr469Asn)
c.1414T>A (p.Tyr472Asn)
c.1558T>A (p.Tyr520Asn)
c.*1267T>A (n.*1267T>A)
c.1540T>A (p.Tyr514Asn)
c.1600T>A (p.Tyr534Asn)
n.1476T>A
c.1522T>A (p.Tyr508Asn)
c.1792T>A (p.Tyr598Asn)
c.1801T>A (p.Tyr601Asn)
c.1147T>A (p.Tyr383Asn)
c.1591T>A (p.Tyr531Asn)
9g.135770335T>CCA375506305KCNT1c.1657T>C (p.Tyr553His)
c.1498T>C (p.Tyr500His)
c.1405T>C (p.Tyr469His)
c.1414T>C (p.Tyr472His)
c.1558T>C (p.Tyr520His)
c.*1267T>C (n.*1267T>C)
c.1540T>C (p.Tyr514His)
c.1600T>C (p.Tyr534His)
n.1476T>C
c.1522T>C (p.Tyr508His)
c.1792T>C (p.Tyr598His)
c.1801T>C (p.Tyr601His)
c.1147T>C (p.Tyr383His)
c.1591T>C (p.Tyr531His)
9g.135770335T>GCA375506307KCNT1c.1657T>G (p.Tyr553Asp)
c.1498T>G (p.Tyr500Asp)
c.1405T>G (p.Tyr469Asp)
c.1414T>G (p.Tyr472Asp)
c.1558T>G (p.Tyr520Asp)
c.*1267T>G (n.*1267T>G)
c.1540T>G (p.Tyr514Asp)
c.1600T>G (p.Tyr534Asp)
n.1476T>G
c.1522T>G (p.Tyr508Asp)
c.1792T>G (p.Tyr598Asp)
c.1801T>G (p.Tyr601Asp)
c.1147T>G (p.Tyr383Asp)
c.1591T>G (p.Tyr531Asp)
9g.135770336A>CCA375506316KCNT1c.1658A>C (p.Tyr553Ser)
c.1499A>C (p.Tyr500Ser)
c.1406A>C (p.Tyr469Ser)
c.1415A>C (p.Tyr472Ser)
c.1559A>C (p.Tyr520Ser)
c.*1268A>C (n.*1268A>C)
c.1541A>C (p.Tyr514Ser)
c.1601A>C (p.Tyr534Ser)
n.1477A>C
c.1523A>C (p.Tyr508Ser)
c.1793A>C (p.Tyr598Ser)
c.1802A>C (p.Tyr601Ser)
c.1148A>C (p.Tyr383Ser)
c.1592A>C (p.Tyr531Ser)
9g.135770336A>GCA375506314KCNT1c.1658A>G (p.Tyr553Cys)
c.1499A>G (p.Tyr500Cys)
c.1406A>G (p.Tyr469Cys)
c.1415A>G (p.Tyr472Cys)
c.1559A>G (p.Tyr520Cys)
c.*1268A>G (n.*1268A>G)
c.1541A>G (p.Tyr514Cys)
c.1601A>G (p.Tyr534Cys)
n.1477A>G
c.1523A>G (p.Tyr508Cys)
c.1793A>G (p.Tyr598Cys)
c.1802A>G (p.Tyr601Cys)
c.1148A>G (p.Tyr383Cys)
c.1592A>G (p.Tyr531Cys)
9g.135770336A>TCA375506311KCNT1c.1658A>T (p.Tyr553Phe)
c.1499A>T (p.Tyr500Phe)
c.1406A>T (p.Tyr469Phe)
c.1415A>T (p.Tyr472Phe)
c.1559A>T (p.Tyr520Phe)
c.*1268A>T (n.*1268A>T)
c.1541A>T (p.Tyr514Phe)
c.1601A>T (p.Tyr534Phe)
n.1477A>T
c.1523A>T (p.Tyr508Phe)
c.1793A>T (p.Tyr598Phe)
c.1802A>T (p.Tyr601Phe)
c.1148A>T (p.Tyr383Phe)
c.1592A>T (p.Tyr531Phe)
9g.135770337T>ACA375506320KCNT1c.1659T>A (p.Tyr553Ter)
c.1500T>A (p.Tyr500Ter)
c.1407T>A (p.Tyr469Ter)
c.1416T>A (p.Tyr472Ter)
c.1560T>A (p.Tyr520Ter)
c.*1269T>A (n.*1269T>A)
c.1542T>A (p.Tyr514Ter)
c.1602T>A (p.Tyr534Ter)
n.1478T>A
c.1524T>A (p.Tyr508Ter)
c.1794T>A (p.Tyr598Ter)
c.1803T>A (p.Tyr601Ter)
c.1149T>A (p.Tyr383Ter)
c.1593T>A (p.Tyr531Ter)
9g.135770337T>CCA467698510KCNT1c.1659T>C (p.Tyr553=)
c.1500T>C (p.Tyr500=)
c.1407T>C (p.Tyr469=)
c.1416T>C (p.Tyr472=)
c.1560T>C (p.Tyr520=)
c.*1269T>C (n.*1269T>C)
c.1542T>C (p.Tyr514=)
c.1602T>C (p.Tyr534=)
n.1478T>C
c.1524T>C (p.Tyr508=)
c.1794T>C (p.Tyr598=)
c.1803T>C (p.Tyr601=)
c.1149T>C (p.Tyr383=)
c.1593T>C (p.Tyr531=)
 dbSNP
9g.135770337T>GCA375506318KCNT1c.1659T>G (p.Tyr553Ter)
c.1500T>G (p.Tyr500Ter)
c.1407T>G (p.Tyr469Ter)
c.1416T>G (p.Tyr472Ter)
c.1560T>G (p.Tyr520Ter)
c.*1269T>G (n.*1269T>G)
c.1542T>G (p.Tyr514Ter)
c.1602T>G (p.Tyr534Ter)
n.1478T>G
c.1524T>G (p.Tyr508Ter)
c.1794T>G (p.Tyr598Ter)
c.1803T>G (p.Tyr601Ter)
c.1149T>G (p.Tyr383Ter)
c.1593T>G (p.Tyr531Ter)
9g.135770338G>ACA375506323KCNT1c.1660G>A (p.Gly554Arg)
c.1501G>A (p.Gly501Arg)
c.1408G>A (p.Gly470Arg)
c.1417G>A (p.Gly473Arg)
c.1561G>A (p.Gly521Arg)
c.*1270G>A (n.*1270G>A)
c.1543G>A (p.Gly515Arg)
c.1603G>A (p.Gly535Arg)
n.1479G>A
c.1525G>A (p.Gly509Arg)
c.1795G>A (p.Gly599Arg)
c.1804G>A (p.Gly602Arg)
c.1150G>A (p.Gly384Arg)
c.1594G>A (p.Gly532Arg)
 gnomAD v4
9g.135770338G>CCA375506325KCNT1c.1660G>C (p.Gly554Arg)
c.1501G>C (p.Gly501Arg)
c.1408G>C (p.Gly470Arg)
c.1417G>C (p.Gly473Arg)
c.1561G>C (p.Gly521Arg)
c.*1270G>C (n.*1270G>C)
c.1543G>C (p.Gly515Arg)
c.1603G>C (p.Gly535Arg)
n.1479G>C
c.1525G>C (p.Gly509Arg)
c.1795G>C (p.Gly599Arg)
c.1804G>C (p.Gly602Arg)
c.1150G>C (p.Gly384Arg)
c.1594G>C (p.Gly532Arg)
 gnomAD v4
9g.135770338G>TCA375506327KCNT1c.1660G>T (p.Gly554Trp)
c.1501G>T (p.Gly501Trp)
c.1408G>T (p.Gly470Trp)
c.1417G>T (p.Gly473Trp)
c.1561G>T (p.Gly521Trp)
c.*1270G>T (n.*1270G>T)
c.1543G>T (p.Gly515Trp)
c.1603G>T (p.Gly535Trp)
n.1479G>T
c.1525G>T (p.Gly509Trp)
c.1795G>T (p.Gly599Trp)
c.1804G>T (p.Gly602Trp)
c.1150G>T (p.Gly384Trp)
c.1594G>T (p.Gly532Trp)
9g.135770339G>ACA375506330KCNT1c.1661G>A (p.Gly554Glu)
c.1502G>A (p.Gly501Glu)
c.1409G>A (p.Gly470Glu)
c.1418G>A (p.Gly473Glu)
c.1562G>A (p.Gly521Glu)
c.*1271G>A (n.*1271G>A)
c.1544G>A (p.Gly515Glu)
c.1604G>A (p.Gly535Glu)
n.1480G>A
c.1526G>A (p.Gly509Glu)
c.1796G>A (p.Gly599Glu)
c.1805G>A (p.Gly602Glu)
c.1151G>A (p.Gly384Glu)
c.1595G>A (p.Gly532Glu)
 ClinVar dbSNP
9g.135770339G>CCA375506332KCNT1c.1661G>C (p.Gly554Ala)
c.1502G>C (p.Gly501Ala)
c.1409G>C (p.Gly470Ala)
c.1418G>C (p.Gly473Ala)
c.1562G>C (p.Gly521Ala)
c.*1271G>C (n.*1271G>C)
c.1544G>C (p.Gly515Ala)
c.1604G>C (p.Gly535Ala)
n.1480G>C
c.1526G>C (p.Gly509Ala)
c.1796G>C (p.Gly599Ala)
c.1805G>C (p.Gly602Ala)
c.1151G>C (p.Gly384Ala)
c.1595G>C (p.Gly532Ala)
9g.135770339G=CA1883873308KCNT1c.1661G= (p.Gly554=)
c.1502G= (p.Gly501=)
c.1409G= (p.Gly470=)
c.1418G= (p.Gly473=)
c.1562G= (p.Gly521=)
c.*1271G= (n.*1271G=)
c.1544G= (p.Gly515=)
c.1604G= (p.Gly535=)
n.1480G=
c.1526G= (p.Gly509=)
c.1796G= (p.Gly599=)
c.1805G= (p.Gly602=)
c.1151G= (p.Gly384=)
c.1595G= (p.Gly532=)
9g.135770339G>TCA375506335KCNT1c.1661G>T (p.Gly554Val)
c.1502G>T (p.Gly501Val)
c.1409G>T (p.Gly470Val)
c.1418G>T (p.Gly473Val)
c.1562G>T (p.Gly521Val)
c.*1271G>T (n.*1271G>T)
c.1544G>T (p.Gly515Val)
c.1604G>T (p.Gly535Val)
n.1480G>T
c.1526G>T (p.Gly509Val)
c.1796G>T (p.Gly599Val)
c.1805G>T (p.Gly602Val)
c.1151G>T (p.Gly384Val)
c.1595G>T (p.Gly532Val)
 dbSNP
9g.135770340G>ACA467698511KCNT1c.1662G>A (p.Gly554=)
c.1503G>A (p.Gly501=)
c.1410G>A (p.Gly470=)
c.1419G>A (p.Gly473=)
c.1563G>A (p.Gly521=)
c.*1272G>A (n.*1272G>A)
c.1545G>A (p.Gly515=)
c.1605G>A (p.Gly535=)
n.1481G>A
c.1527G>A (p.Gly509=)
c.1797G>A (p.Gly599=)
c.1806G>A (p.Gly602=)
c.1152G>A (p.Gly384=)
c.1596G>A (p.Gly532=)
9g.135770340G>CCA467698512KCNT1c.1662G>C (p.Gly554=)
c.1503G>C (p.Gly501=)
c.1410G>C (p.Gly470=)
c.1419G>C (p.Gly473=)
c.1563G>C (p.Gly521=)
c.*1272G>C (n.*1272G>C)
c.1545G>C (p.Gly515=)
c.1605G>C (p.Gly535=)
n.1481G>C
c.1527G>C (p.Gly509=)
c.1797G>C (p.Gly599=)
c.1806G>C (p.Gly602=)
c.1152G>C (p.Gly384=)
c.1596G>C (p.Gly532=)
9g.135770340G>TCA467698513KCNT1c.1662G>T (p.Gly554=)
c.1503G>T (p.Gly501=)
c.1410G>T (p.Gly470=)
c.1419G>T (p.Gly473=)
c.1563G>T (p.Gly521=)
c.*1272G>T (n.*1272G>T)
c.1545G>T (p.Gly515=)
c.1605G>T (p.Gly535=)
n.1481G>T
c.1527G>T (p.Gly509=)
c.1797G>T (p.Gly599=)
c.1806G>T (p.Gly602=)
c.1152G>T (p.Gly384=)
c.1596G>T (p.Gly532=)
 gnomAD v4
9g.135770341C>ACA375506339KCNT1c.1663C>A (p.Arg555Ser)
c.1504C>A (p.Arg502Ser)
c.1411C>A (p.Arg471Ser)
c.1420C>A (p.Arg474Ser)
c.1564C>A (p.Arg522Ser)
c.*1273C>A (n.*1273C>A)
c.1546C>A (p.Arg516Ser)
c.1606C>A (p.Arg536Ser)
n.1482C>A
c.1528C>A (p.Arg510Ser)
c.1798C>A (p.Arg600Ser)
c.1807C>A (p.Arg603Ser)
c.1153C>A (p.Arg385Ser)
c.1597C>A (p.Arg533Ser)
9g.135770341C=CA1883873312KCNT1c.1663C= (p.Arg555=)
c.1504C= (p.Arg502=)
c.1411C= (p.Arg471=)
c.1420C= (p.Arg474=)
c.1564C= (p.Arg522=)
c.*1273C= (n.*1273C=)
c.1546C= (p.Arg516=)
c.1606C= (p.Arg536=)
n.1482C=
c.1528C= (p.Arg510=)
c.1798C= (p.Arg600=)
c.1807C= (p.Arg603=)
c.1153C= (p.Arg385=)
c.1597C= (p.Arg533=)
9g.135770341C>GCA375506349KCNT1c.1663C>G (p.Arg555Gly)
c.1504C>G (p.Arg502Gly)
c.1411C>G (p.Arg471Gly)
c.1420C>G (p.Arg474Gly)
c.1564C>G (p.Arg522Gly)
c.*1273C>G (n.*1273C>G)
c.1546C>G (p.Arg516Gly)
c.1606C>G (p.Arg536Gly)
n.1482C>G
c.1528C>G (p.Arg510Gly)
c.1798C>G (p.Arg600Gly)
c.1807C>G (p.Arg603Gly)
c.1153C>G (p.Arg385Gly)
c.1597C>G (p.Arg533Gly)
9g.135770341C>TCA5327019KCNT1c.1663C>T (p.Arg555Cys)
c.1504C>T (p.Arg502Cys)
c.1411C>T (p.Arg471Cys)
c.1420C>T (p.Arg474Cys)
c.1564C>T (p.Arg522Cys)
c.*1273C>T (n.*1273C>T)
c.1546C>T (p.Arg516Cys)
c.1606C>T (p.Arg536Cys)
n.1482C>T
c.1528C>T (p.Arg510Cys)
c.1798C>T (p.Arg600Cys)
c.1807C>T (p.Arg603Cys)
c.1153C>T (p.Arg385Cys)
c.1597C>T (p.Arg533Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770342G>ACA5327020KCNT1c.1664G>A (p.Arg555His)
c.1505G>A (p.Arg502His)
c.1412G>A (p.Arg471His)
c.1421G>A (p.Arg474His)
c.1565G>A (p.Arg522His)
c.*1274G>A (n.*1274G>A)
c.1547G>A (p.Arg516His)
c.1607G>A (p.Arg536His)
n.1483G>A
c.1529G>A (p.Arg510His)
c.1799G>A (p.Arg600His)
c.1808G>A (p.Arg603His)
c.1154G>A (p.Arg385His)
c.1598G>A (p.Arg533His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.135770342G>CCA201472918KCNT1c.1664G>C (p.Arg555Pro)
c.1505G>C (p.Arg502Pro)
c.1412G>C (p.Arg471Pro)
c.1421G>C (p.Arg474Pro)
c.1565G>C (p.Arg522Pro)
c.*1274G>C (n.*1274G>C)
c.1547G>C (p.Arg516Pro)
c.1607G>C (p.Arg536Pro)
n.1483G>C
c.1529G>C (p.Arg510Pro)
c.1799G>C (p.Arg600Pro)
c.1808G>C (p.Arg603Pro)
c.1154G>C (p.Arg385Pro)
c.1598G>C (p.Arg533Pro)
 dbSNP
9g.135770342G=CA1883873315KCNT1c.1664G= (p.Arg555=)
c.1505G= (p.Arg502=)
c.1412G= (p.Arg471=)
c.1421G= (p.Arg474=)
c.1565G= (p.Arg522=)
c.*1274G= (n.*1274G=)
c.1547G= (p.Arg516=)
c.1607G= (p.Arg536=)
n.1483G=
c.1529G= (p.Arg510=)
c.1799G= (p.Arg600=)
c.1808G= (p.Arg603=)
c.1154G= (p.Arg385=)
c.1598G= (p.Arg533=)
9g.135770342G>TCA375506358KCNT1c.1664G>T (p.Arg555Leu)
c.1505G>T (p.Arg502Leu)
c.1412G>T (p.Arg471Leu)
c.1421G>T (p.Arg474Leu)
c.1565G>T (p.Arg522Leu)
c.*1274G>T (n.*1274G>T)
c.1547G>T (p.Arg516Leu)
c.1607G>T (p.Arg536Leu)
n.1483G>T
c.1529G>T (p.Arg510Leu)
c.1799G>T (p.Arg600Leu)
c.1808G>T (p.Arg603Leu)
c.1154G>T (p.Arg385Leu)
c.1598G>T (p.Arg533Leu)
9g.135770343C>ACA467698514KCNT1c.1665C>A (p.Arg555=)
c.1506C>A (p.Arg502=)
c.1413C>A (p.Arg471=)
c.1422C>A (p.Arg474=)
c.1566C>A (p.Arg522=)
c.*1275C>A (n.*1275C>A)
c.1548C>A (p.Arg516=)
c.1608C>A (p.Arg536=)
n.1484C>A
c.1530C>A (p.Arg510=)
c.1800C>A (p.Arg600=)
c.1809C>A (p.Arg603=)
c.1155C>A (p.Arg385=)
c.1599C>A (p.Arg533=)
9g.135770343C>GCA467698515KCNT1c.1665C>G (p.Arg555=)
c.1506C>G (p.Arg502=)
c.1413C>G (p.Arg471=)
c.1422C>G (p.Arg474=)
c.1566C>G (p.Arg522=)
c.*1275C>G (n.*1275C>G)
c.1548C>G (p.Arg516=)
c.1608C>G (p.Arg536=)
n.1484C>G
c.1530C>G (p.Arg510=)
c.1800C>G (p.Arg600=)
c.1809C>G (p.Arg603=)
c.1155C>G (p.Arg385=)
c.1599C>G (p.Arg533=)
9g.135770343C>TCA467698516KCNT1c.1665C>T (p.Arg555=)
c.1506C>T (p.Arg502=)
c.1413C>T (p.Arg471=)
c.1422C>T (p.Arg474=)
c.1566C>T (p.Arg522=)
c.*1275C>T (n.*1275C>T)
c.1548C>T (p.Arg516=)
c.1608C>T (p.Arg536=)
n.1484C>T
c.1530C>T (p.Arg510=)
c.1800C>T (p.Arg600=)
c.1809C>T (p.Arg603=)
c.1155C>T (p.Arg385=)
c.1599C>T (p.Arg533=)
9g.135770344T>ACA375506366KCNT1c.1666T>A (p.Cys556Ser)
c.1507T>A (p.Cys503Ser)
c.1414T>A (p.Cys472Ser)
c.1423T>A (p.Cys475Ser)
c.1567T>A (p.Cys523Ser)
c.*1276T>A (n.*1276T>A)
c.1549T>A (p.Cys517Ser)
c.1609T>A (p.Cys537Ser)
n.1485T>A
c.1531T>A (p.Cys511Ser)
c.1801T>A (p.Cys601Ser)
c.1810T>A (p.Cys604Ser)
c.1156T>A (p.Cys386Ser)
c.1600T>A (p.Cys534Ser)
9g.135770344T>CCA375506362KCNT1c.1666T>C (p.Cys556Arg)
c.1507T>C (p.Cys503Arg)
c.1414T>C (p.Cys472Arg)
c.1423T>C (p.Cys475Arg)
c.1567T>C (p.Cys523Arg)
c.*1276T>C (n.*1276T>C)
c.1549T>C (p.Cys517Arg)
c.1609T>C (p.Cys537Arg)
n.1485T>C
c.1531T>C (p.Cys511Arg)
c.1801T>C (p.Cys601Arg)
c.1810T>C (p.Cys604Arg)
c.1156T>C (p.Cys386Arg)
c.1600T>C (p.Cys534Arg)
 gnomAD v4
9g.135770344T>GCA375506364KCNT1c.1666T>G (p.Cys556Gly)
c.1507T>G (p.Cys503Gly)
c.1414T>G (p.Cys472Gly)
c.1423T>G (p.Cys475Gly)
c.1567T>G (p.Cys523Gly)
c.*1276T>G (n.*1276T>G)
c.1549T>G (p.Cys517Gly)
c.1609T>G (p.Cys537Gly)
n.1485T>G
c.1531T>G (p.Cys511Gly)
c.1801T>G (p.Cys601Gly)
c.1810T>G (p.Cys604Gly)
c.1156T>G (p.Cys386Gly)
c.1600T>G (p.Cys534Gly)
9g.135770345G>ACA375506368KCNT1c.1667G>A (p.Cys556Tyr)
c.1508G>A (p.Cys503Tyr)
c.1415G>A (p.Cys472Tyr)
c.1424G>A (p.Cys475Tyr)
c.1568G>A (p.Cys523Tyr)
c.*1277G>A (n.*1277G>A)
c.1550G>A (p.Cys517Tyr)
c.1610G>A (p.Cys537Tyr)
n.1486G>A
c.1532G>A (p.Cys511Tyr)
c.1802G>A (p.Cys601Tyr)
c.1811G>A (p.Cys604Tyr)
c.1157G>A (p.Cys386Tyr)
c.1601G>A (p.Cys534Tyr)
9g.135770345G>CCA375506370KCNT1c.1667G>C (p.Cys556Ser)
c.1508G>C (p.Cys503Ser)
c.1415G>C (p.Cys472Ser)
c.1424G>C (p.Cys475Ser)
c.1568G>C (p.Cys523Ser)
c.*1277G>C (n.*1277G>C)
c.1550G>C (p.Cys517Ser)
c.1610G>C (p.Cys537Ser)
n.1486G>C
c.1532G>C (p.Cys511Ser)
c.1802G>C (p.Cys601Ser)
c.1811G>C (p.Cys604Ser)
c.1157G>C (p.Cys386Ser)
c.1601G>C (p.Cys534Ser)
9g.135770345G>TCA375506372KCNT1c.1667G>T (p.Cys556Phe)
c.1508G>T (p.Cys503Phe)
c.1415G>T (p.Cys472Phe)
c.1424G>T (p.Cys475Phe)
c.1568G>T (p.Cys523Phe)
c.*1277G>T (n.*1277G>T)
c.1550G>T (p.Cys517Phe)
c.1610G>T (p.Cys537Phe)
n.1486G>T
c.1532G>T (p.Cys511Phe)
c.1802G>T (p.Cys601Phe)
c.1811G>T (p.Cys604Phe)
c.1157G>T (p.Cys386Phe)
c.1601G>T (p.Cys534Phe)
9g.135770346C>ACA5327021KCNT1c.1668C>A (p.Cys556Ter)
c.1509C>A (p.Cys503Ter)
c.1416C>A (p.Cys472Ter)
c.1425C>A (p.Cys475Ter)
c.1569C>A (p.Cys523Ter)
c.*1278C>A (n.*1278C>A)
c.1551C>A (p.Cys517Ter)
c.1611C>A (p.Cys537Ter)
n.1487C>A
c.1533C>A (p.Cys511Ter)
c.1803C>A (p.Cys601Ter)
c.1812C>A (p.Cys604Ter)
c.1158C>A (p.Cys386Ter)
c.1602C>A (p.Cys534Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770346C=CA1883873323KCNT1c.1668C= (p.Cys556=)
c.1509C= (p.Cys503=)
c.1416C= (p.Cys472=)
c.1425C= (p.Cys475=)
c.1569C= (p.Cys523=)
c.*1278C= (n.*1278C=)
c.1551C= (p.Cys517=)
c.1611C= (p.Cys537=)
n.1487C=
c.1533C= (p.Cys511=)
c.1803C= (p.Cys601=)
c.1812C= (p.Cys604=)
c.1158C= (p.Cys386=)
c.1602C= (p.Cys534=)
9g.135770346C>GCA375506377KCNT1c.1668C>G (p.Cys556Trp)
c.1509C>G (p.Cys503Trp)
c.1416C>G (p.Cys472Trp)
c.1425C>G (p.Cys475Trp)
c.1569C>G (p.Cys523Trp)
c.*1278C>G (n.*1278C>G)
c.1551C>G (p.Cys517Trp)
c.1611C>G (p.Cys537Trp)
n.1487C>G
c.1533C>G (p.Cys511Trp)
c.1803C>G (p.Cys601Trp)
c.1812C>G (p.Cys604Trp)
c.1158C>G (p.Cys386Trp)
c.1602C>G (p.Cys534Trp)
9g.135770346C>TCA467698517KCNT1c.1668C>T (p.Cys556=)
c.1509C>T (p.Cys503=)
c.1416C>T (p.Cys472=)
c.1425C>T (p.Cys475=)
c.1569C>T (p.Cys523=)
c.*1278C>T (n.*1278C>T)
c.1551C>T (p.Cys517=)
c.1611C>T (p.Cys537=)
n.1487C>T
c.1533C>T (p.Cys511=)
c.1803C>T (p.Cys601=)
c.1812C>T (p.Cys604=)
c.1158C>T (p.Cys386=)
c.1602C>T (p.Cys534=)
9g.135770347T>ACA375506379KCNT1c.1669T>A (p.Ser557Thr)
c.1510T>A (p.Ser504Thr)
c.1417T>A (p.Ser473Thr)
c.1426T>A (p.Ser476Thr)
c.1570T>A (p.Ser524Thr)
c.*1279T>A (n.*1279T>A)
c.1552T>A (p.Ser518Thr)
c.1612T>A (p.Ser538Thr)
n.1488T>A
c.1534T>A (p.Ser512Thr)
c.1804T>A (p.Ser602Thr)
c.1813T>A (p.Ser605Thr)
c.1159T>A (p.Ser387Thr)
c.1603T>A (p.Ser535Thr)
9g.135770347T>CCA375506382KCNT1c.1669T>C (p.Ser557Pro)
c.1510T>C (p.Ser504Pro)
c.1417T>C (p.Ser473Pro)
c.1426T>C (p.Ser476Pro)
c.1570T>C (p.Ser524Pro)
c.*1279T>C (n.*1279T>C)
c.1552T>C (p.Ser518Pro)
c.1612T>C (p.Ser538Pro)
n.1488T>C
c.1534T>C (p.Ser512Pro)
c.1804T>C (p.Ser602Pro)
c.1813T>C (p.Ser605Pro)
c.1159T>C (p.Ser387Pro)
c.1603T>C (p.Ser535Pro)
9g.135770347T>GCA375506383KCNT1c.1669T>G (p.Ser557Ala)
c.1510T>G (p.Ser504Ala)
c.1417T>G (p.Ser473Ala)
c.1426T>G (p.Ser476Ala)
c.1570T>G (p.Ser524Ala)
c.*1279T>G (n.*1279T>G)
c.1552T>G (p.Ser518Ala)
c.1612T>G (p.Ser538Ala)
n.1488T>G
c.1534T>G (p.Ser512Ala)
c.1804T>G (p.Ser602Ala)
c.1813T>G (p.Ser605Ala)
c.1159T>G (p.Ser387Ala)
c.1603T>G (p.Ser535Ala)
9g.135770348C>ACA375506386KCNT1c.1670C>A (p.Ser557Tyr)
c.1511C>A (p.Ser504Tyr)
c.1418C>A (p.Ser473Tyr)
c.1427C>A (p.Ser476Tyr)
c.1571C>A (p.Ser524Tyr)
c.*1280C>A (n.*1280C>A)
c.1553C>A (p.Ser518Tyr)
c.1613C>A (p.Ser538Tyr)
n.1489C>A
c.1535C>A (p.Ser512Tyr)
c.1805C>A (p.Ser602Tyr)
c.1814C>A (p.Ser605Tyr)
c.1160C>A (p.Ser387Tyr)
c.1604C>A (p.Ser535Tyr)
9g.135770348C>GCA375506388KCNT1c.1670C>G (p.Ser557Cys)
c.1511C>G (p.Ser504Cys)
c.1418C>G (p.Ser473Cys)
c.1427C>G (p.Ser476Cys)
c.1571C>G (p.Ser524Cys)
c.*1280C>G (n.*1280C>G)
c.1553C>G (p.Ser518Cys)
c.1613C>G (p.Ser538Cys)
n.1489C>G
c.1535C>G (p.Ser512Cys)
c.1805C>G (p.Ser602Cys)
c.1814C>G (p.Ser605Cys)
c.1160C>G (p.Ser387Cys)
c.1604C>G (p.Ser535Cys)
9g.135770348C>TCA375506391KCNT1c.1670C>T (p.Ser557Phe)
c.1511C>T (p.Ser504Phe)
c.1418C>T (p.Ser473Phe)
c.1427C>T (p.Ser476Phe)
c.1571C>T (p.Ser524Phe)
c.*1280C>T (n.*1280C>T)
c.1553C>T (p.Ser518Phe)
c.1613C>T (p.Ser538Phe)
n.1489C>T
c.1535C>T (p.Ser512Phe)
c.1805C>T (p.Ser602Phe)
c.1814C>T (p.Ser605Phe)
c.1160C>T (p.Ser387Phe)
c.1604C>T (p.Ser535Phe)
9g.135770349C>ACA467698518KCNT1c.1671C>A (p.Ser557=)
c.1512C>A (p.Ser504=)
c.1419C>A (p.Ser473=)
c.1428C>A (p.Ser476=)
c.1572C>A (p.Ser524=)
c.*1281C>A (n.*1281C>A)
c.1554C>A (p.Ser518=)
c.1614C>A (p.Ser538=)
n.1490C>A
c.1536C>A (p.Ser512=)
c.1806C>A (p.Ser602=)
c.1815C>A (p.Ser605=)
c.1161C>A (p.Ser387=)
c.1605C>A (p.Ser535=)
9g.135770349C=CA1883873327KCNT1c.1671C= (p.Ser557=)
c.1512C= (p.Ser504=)
c.1419C= (p.Ser473=)
c.1428C= (p.Ser476=)
c.1572C= (p.Ser524=)
c.*1281C= (n.*1281C=)
c.1554C= (p.Ser518=)
c.1614C= (p.Ser538=)
n.1490C=
c.1536C= (p.Ser512=)
c.1806C= (p.Ser602=)
c.1815C= (p.Ser605=)
c.1161C= (p.Ser387=)
c.1605C= (p.Ser535=)
9g.135770349C>GCA467698519KCNT1c.1671C>G (p.Ser557=)
c.1512C>G (p.Ser504=)
c.1419C>G (p.Ser473=)
c.1428C>G (p.Ser476=)
c.1572C>G (p.Ser524=)
c.*1281C>G (n.*1281C>G)
c.1554C>G (p.Ser518=)
c.1614C>G (p.Ser538=)
n.1490C>G
c.1536C>G (p.Ser512=)
c.1806C>G (p.Ser602=)
c.1815C>G (p.Ser605=)
c.1161C>G (p.Ser387=)
c.1605C>G (p.Ser535=)
9g.135770349C>TCA5327022KCNT1c.1671C>T (p.Ser557=)
c.1512C>T (p.Ser504=)
c.1419C>T (p.Ser473=)
c.1428C>T (p.Ser476=)
c.1572C>T (p.Ser524=)
c.*1281C>T (n.*1281C>T)
c.1554C>T (p.Ser518=)
c.1614C>T (p.Ser538=)
n.1490C>T
c.1536C>T (p.Ser512=)
c.1806C>T (p.Ser602=)
c.1815C>T (p.Ser605=)
c.1161C>T (p.Ser387=)
c.1605C>T (p.Ser535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770350G>ACA375506399KCNT1c.1672G>A (p.Gly558Ser)
c.1513G>A (p.Gly505Ser)
c.1420G>A (p.Gly474Ser)
c.1429G>A (p.Gly477Ser)
c.1573G>A (p.Gly525Ser)
c.*1282G>A (n.*1282G>A)
c.1555G>A (p.Gly519Ser)
c.1615G>A (p.Gly539Ser)
n.1491G>A
c.1537G>A (p.Gly513Ser)
c.1807G>A (p.Gly603Ser)
c.1816G>A (p.Gly606Ser)
c.1162G>A (p.Gly388Ser)
c.1606G>A (p.Gly536Ser)
 gnomAD v4
9g.135770350G>CCA375506400KCNT1c.1672G>C (p.Gly558Arg)
c.1513G>C (p.Gly505Arg)
c.1420G>C (p.Gly474Arg)
c.1429G>C (p.Gly477Arg)
c.1573G>C (p.Gly525Arg)
c.*1282G>C (n.*1282G>C)
c.1555G>C (p.Gly519Arg)
c.1615G>C (p.Gly539Arg)
n.1491G>C
c.1537G>C (p.Gly513Arg)
c.1807G>C (p.Gly603Arg)
c.1816G>C (p.Gly606Arg)
c.1162G>C (p.Gly388Arg)
c.1606G>C (p.Gly536Arg)
9g.135770350G=CA1883873333KCNT1c.1672G= (p.Gly558=)
c.1513G= (p.Gly505=)
c.1420G= (p.Gly474=)
c.1429G= (p.Gly477=)
c.1573G= (p.Gly525=)
c.*1282G= (n.*1282G=)
c.1555G= (p.Gly519=)
c.1615G= (p.Gly539=)
n.1491G=
c.1537G= (p.Gly513=)
c.1807G= (p.Gly603=)
c.1816G= (p.Gly606=)
c.1162G= (p.Gly388=)
c.1606G= (p.Gly536=)
9g.135770350G>TCA375506397KCNT1c.1672G>T (p.Gly558Cys)
c.1513G>T (p.Gly505Cys)
c.1420G>T (p.Gly474Cys)
c.1429G>T (p.Gly477Cys)
c.1573G>T (p.Gly525Cys)
c.*1282G>T (n.*1282G>T)
c.1555G>T (p.Gly519Cys)
c.1615G>T (p.Gly539Cys)
n.1491G>T
c.1537G>T (p.Gly513Cys)
c.1807G>T (p.Gly603Cys)
c.1816G>T (p.Gly606Cys)
c.1162G>T (p.Gly388Cys)
c.1606G>T (p.Gly536Cys)
 ClinVar dbSNP
9g.135770351G>ACA375506405KCNT1c.1673G>A (p.Gly558Asp)
c.1514G>A (p.Gly505Asp)
c.1421G>A (p.Gly474Asp)
c.1430G>A (p.Gly477Asp)
c.1574G>A (p.Gly525Asp)
c.*1283G>A (n.*1283G>A)
c.1556G>A (p.Gly519Asp)
c.1616G>A (p.Gly539Asp)
n.1492G>A
c.1538G>A (p.Gly513Asp)
c.1808G>A (p.Gly603Asp)
c.1817G>A (p.Gly606Asp)
c.1163G>A (p.Gly388Asp)
c.1607G>A (p.Gly536Asp)
9g.135770351G>CCA375506407KCNT1c.1673G>C (p.Gly558Ala)
c.1514G>C (p.Gly505Ala)
c.1421G>C (p.Gly474Ala)
c.1430G>C (p.Gly477Ala)
c.1574G>C (p.Gly525Ala)
c.*1283G>C (n.*1283G>C)
c.1556G>C (p.Gly519Ala)
c.1616G>C (p.Gly539Ala)
n.1492G>C
c.1538G>C (p.Gly513Ala)
c.1808G>C (p.Gly603Ala)
c.1817G>C (p.Gly606Ala)
c.1163G>C (p.Gly388Ala)
c.1607G>C (p.Gly536Ala)
9g.135770351G=CA1883873343KCNT1c.1673G= (p.Gly558=)
c.1514G= (p.Gly505=)
c.1421G= (p.Gly474=)
c.1430G= (p.Gly477=)
c.1574G= (p.Gly525=)
c.*1283G= (n.*1283G=)
c.1556G= (p.Gly519=)
c.1616G= (p.Gly539=)
n.1492G=
c.1538G= (p.Gly513=)
c.1808G= (p.Gly603=)
c.1817G= (p.Gly606=)
c.1163G= (p.Gly388=)
c.1607G= (p.Gly536=)
9g.135770351G>TCA5327023KCNT1c.1673G>T (p.Gly558Val)
c.1514G>T (p.Gly505Val)
c.1421G>T (p.Gly474Val)
c.1430G>T (p.Gly477Val)
c.1574G>T (p.Gly525Val)
c.*1283G>T (n.*1283G>T)
c.1556G>T (p.Gly519Val)
c.1616G>T (p.Gly539Val)
n.1492G>T
c.1538G>T (p.Gly513Val)
c.1808G>T (p.Gly603Val)
c.1817G>T (p.Gly606Val)
c.1163G>T (p.Gly388Val)
c.1607G>T (p.Gly536Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770352C>ACA467698520KCNT1c.1674C>A (p.Gly558=)
c.1515C>A (p.Gly505=)
c.1422C>A (p.Gly474=)
c.1431C>A (p.Gly477=)
c.1575C>A (p.Gly525=)
c.*1284C>A (n.*1284C>A)
c.1557C>A (p.Gly519=)
c.1617C>A (p.Gly539=)
n.1493C>A
c.1539C>A (p.Gly513=)
c.1809C>A (p.Gly603=)
c.1818C>A (p.Gly606=)
c.1164C>A (p.Gly388=)
c.1608C>A (p.Gly536=)
9g.135770352C>GCA467698521KCNT1c.1674C>G (p.Gly558=)
c.1515C>G (p.Gly505=)
c.1422C>G (p.Gly474=)
c.1431C>G (p.Gly477=)
c.1575C>G (p.Gly525=)
c.*1284C>G (n.*1284C>G)
c.1557C>G (p.Gly519=)
c.1617C>G (p.Gly539=)
n.1493C>G
c.1539C>G (p.Gly513=)
c.1809C>G (p.Gly603=)
c.1818C>G (p.Gly606=)
c.1164C>G (p.Gly388=)
c.1608C>G (p.Gly536=)
9g.135770352C>TCA467698522KCNT1c.1674C>T (p.Gly558=)
c.1515C>T (p.Gly505=)
c.1422C>T (p.Gly474=)
c.1431C>T (p.Gly477=)
c.1575C>T (p.Gly525=)
c.*1284C>T (n.*1284C>T)
c.1557C>T (p.Gly519=)
c.1617C>T (p.Gly539=)
n.1493C>T
c.1539C>T (p.Gly513=)
c.1809C>T (p.Gly603=)
c.1818C>T (p.Gly606=)
c.1164C>T (p.Gly388=)
c.1608C>T (p.Gly536=)
9g.135770353A>CCA375506408KCNT1c.1675A>C (p.Asn559His)
c.1516A>C (p.Asn506His)
c.1423A>C (p.Asn475His)
c.1432A>C (p.Asn478His)
c.1576A>C (p.Asn526His)
c.*1285A>C (n.*1285A>C)
c.1558A>C (p.Asn520His)
c.1618A>C (p.Asn540His)
n.1494A>C
c.1540A>C (p.Asn514His)
c.1810A>C (p.Asn604His)
c.1819A>C (p.Asn607His)
c.1165A>C (p.Asn389His)
c.1609A>C (p.Asn537His)
 ClinVar
9g.135770353A>GCA375506411KCNT1c.1675A>G (p.Asn559Asp)
c.1516A>G (p.Asn506Asp)
c.1423A>G (p.Asn475Asp)
c.1432A>G (p.Asn478Asp)
c.1576A>G (p.Asn526Asp)
c.*1285A>G (n.*1285A>G)
c.1558A>G (p.Asn520Asp)
c.1618A>G (p.Asn540Asp)
n.1494A>G
c.1540A>G (p.Asn514Asp)
c.1810A>G (p.Asn604Asp)
c.1819A>G (p.Asn607Asp)
c.1165A>G (p.Asn389Asp)
c.1609A>G (p.Asn537Asp)
 gnomAD v4
9g.135770353A>TCA375506413KCNT1c.1675A>T (p.Asn559Tyr)
c.1516A>T (p.Asn506Tyr)
c.1423A>T (p.Asn475Tyr)
c.1432A>T (p.Asn478Tyr)
c.1576A>T (p.Asn526Tyr)
c.*1285A>T (n.*1285A>T)
c.1558A>T (p.Asn520Tyr)
c.1618A>T (p.Asn540Tyr)
n.1494A>T
c.1540A>T (p.Asn514Tyr)
c.1810A>T (p.Asn604Tyr)
c.1819A>T (p.Asn607Tyr)
c.1165A>T (p.Asn389Tyr)
c.1609A>T (p.Asn537Tyr)
9g.135770354A>CCA375506422KCNT1c.1676A>C (p.Asn559Thr)
c.1517A>C (p.Asn506Thr)
c.1424A>C (p.Asn475Thr)
c.1433A>C (p.Asn478Thr)
c.1577A>C (p.Asn526Thr)
c.*1286A>C (n.*1286A>C)
c.1559A>C (p.Asn520Thr)
c.1619A>C (p.Asn540Thr)
n.1495A>C
c.1541A>C (p.Asn514Thr)
c.1811A>C (p.Asn604Thr)
c.1820A>C (p.Asn607Thr)
c.1166A>C (p.Asn389Thr)
c.1610A>C (p.Asn537Thr)
9g.135770354A>GCA375506416KCNT1c.1676A>G (p.Asn559Ser)
c.1517A>G (p.Asn506Ser)
c.1424A>G (p.Asn475Ser)
c.1433A>G (p.Asn478Ser)
c.1577A>G (p.Asn526Ser)
c.*1286A>G (n.*1286A>G)
c.1559A>G (p.Asn520Ser)
c.1619A>G (p.Asn540Ser)
n.1495A>G
c.1541A>G (p.Asn514Ser)
c.1811A>G (p.Asn604Ser)
c.1820A>G (p.Asn607Ser)
c.1166A>G (p.Asn389Ser)
c.1610A>G (p.Asn537Ser)
 gnomAD v4
9g.135770354A>TCA375506419KCNT1c.1676A>T (p.Asn559Ile)
c.1517A>T (p.Asn506Ile)
c.1424A>T (p.Asn475Ile)
c.1433A>T (p.Asn478Ile)
c.1577A>T (p.Asn526Ile)
c.*1286A>T (n.*1286A>T)
c.1559A>T (p.Asn520Ile)
c.1619A>T (p.Asn540Ile)
n.1495A>T
c.1541A>T (p.Asn514Ile)
c.1811A>T (p.Asn604Ile)
c.1820A>T (p.Asn607Ile)
c.1166A>T (p.Asn389Ile)
c.1610A>T (p.Asn537Ile)
9g.135770355C>ACA375506425KCNT1c.1677C>A (p.Asn559Lys)
c.1518C>A (p.Asn506Lys)
c.1425C>A (p.Asn475Lys)
c.1434C>A (p.Asn478Lys)
c.1578C>A (p.Asn526Lys)
c.*1287C>A (n.*1287C>A)
c.1560C>A (p.Asn520Lys)
c.1620C>A (p.Asn540Lys)
n.1496C>A
c.1542C>A (p.Asn514Lys)
c.1812C>A (p.Asn604Lys)
c.1821C>A (p.Asn607Lys)
c.1167C>A (p.Asn389Lys)
c.1611C>A (p.Asn537Lys)
 gnomAD v4
9g.135770355C=CA1883873349KCNT1c.1677C= (p.Asn559=)
c.1518C= (p.Asn506=)
c.1425C= (p.Asn475=)
c.1434C= (p.Asn478=)
c.1578C= (p.Asn526=)
c.*1287C= (n.*1287C=)
c.1560C= (p.Asn520=)
c.1620C= (p.Asn540=)
n.1496C=
c.1542C= (p.Asn514=)
c.1812C= (p.Asn604=)
c.1821C= (p.Asn607=)
c.1167C= (p.Asn389=)
c.1611C= (p.Asn537=)
9g.135770355C>GCA375506428KCNT1c.1677C>G (p.Asn559Lys)
c.1518C>G (p.Asn506Lys)
c.1425C>G (p.Asn475Lys)
c.1434C>G (p.Asn478Lys)
c.1578C>G (p.Asn526Lys)
c.*1287C>G (n.*1287C>G)
c.1560C>G (p.Asn520Lys)
c.1620C>G (p.Asn540Lys)
n.1496C>G
c.1542C>G (p.Asn514Lys)
c.1812C>G (p.Asn604Lys)
c.1821C>G (p.Asn607Lys)
c.1167C>G (p.Asn389Lys)
c.1611C>G (p.Asn537Lys)
9g.135770355C>TCA201472930KCNT1c.1677C>T (p.Asn559=)
c.1518C>T (p.Asn506=)
c.1425C>T (p.Asn475=)
c.1434C>T (p.Asn478=)
c.1578C>T (p.Asn526=)
c.*1287C>T (n.*1287C>T)
c.1560C>T (p.Asn520=)
c.1620C>T (p.Asn540=)
n.1496C>T
c.1542C>T (p.Asn514=)
c.1812C>T (p.Asn604=)
c.1821C>T (p.Asn607=)
c.1167C>T (p.Asn389=)
c.1611C>T (p.Asn537=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770356G>ACA5327024KCNT1c.1678G>A (p.Glu560Lys)
c.1519G>A (p.Glu507Lys)
c.1426G>A (p.Glu476Lys)
c.1435G>A (p.Glu479Lys)
c.1579G>A (p.Glu527Lys)
c.*1288G>A (n.*1288G>A)
c.1561G>A (p.Glu521Lys)
c.1621G>A (p.Glu541Lys)
n.1497G>A
c.1543G>A (p.Glu515Lys)
c.1813G>A (p.Glu605Lys)
c.1822G>A (p.Glu608Lys)
c.1168G>A (p.Glu390Lys)
c.1612G>A (p.Glu538Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770356G>CCA375506432KCNT1c.1678G>C (p.Glu560Gln)
c.1519G>C (p.Glu507Gln)
c.1426G>C (p.Glu476Gln)
c.1435G>C (p.Glu479Gln)
c.1579G>C (p.Glu527Gln)
c.*1288G>C (n.*1288G>C)
c.1561G>C (p.Glu521Gln)
c.1621G>C (p.Glu541Gln)
n.1497G>C
c.1543G>C (p.Glu515Gln)
c.1813G>C (p.Glu605Gln)
c.1822G>C (p.Glu608Gln)
c.1168G>C (p.Glu390Gln)
c.1612G>C (p.Glu538Gln)
 gnomAD v4
9g.135770356G=CA1883873371KCNT1c.1678G= (p.Glu560=)
c.1519G= (p.Glu507=)
c.1426G= (p.Glu476=)
c.1435G= (p.Glu479=)
c.1579G= (p.Glu527=)
c.*1288G= (n.*1288G=)
c.1561G= (p.Glu521=)
c.1621G= (p.Glu541=)
n.1497G=
c.1543G= (p.Glu515=)
c.1813G= (p.Glu605=)
c.1822G= (p.Glu608=)
c.1168G= (p.Glu390=)
c.1612G= (p.Glu538=)
9g.135770356G>TCA375506436KCNT1c.1678G>T (p.Glu560Ter)
c.1519G>T (p.Glu507Ter)
c.1426G>T (p.Glu476Ter)
c.1435G>T (p.Glu479Ter)
c.1579G>T (p.Glu527Ter)
c.*1288G>T (n.*1288G>T)
c.1561G>T (p.Glu521Ter)
c.1621G>T (p.Glu541Ter)
n.1497G>T
c.1543G>T (p.Glu515Ter)
c.1813G>T (p.Glu605Ter)
c.1822G>T (p.Glu608Ter)
c.1168G>T (p.Glu390Ter)
c.1612G>T (p.Glu538Ter)
9g.135770357A>CCA375506444KCNT1c.1679A>C (p.Glu560Ala)
c.1520A>C (p.Glu507Ala)
c.1427A>C (p.Glu476Ala)
c.1436A>C (p.Glu479Ala)
c.1580A>C (p.Glu527Ala)
c.*1289A>C (n.*1289A>C)
c.1562A>C (p.Glu521Ala)
c.1622A>C (p.Glu541Ala)
n.1498A>C
c.1544A>C (p.Glu515Ala)
c.1814A>C (p.Glu605Ala)
c.1823A>C (p.Glu608Ala)
c.1169A>C (p.Glu390Ala)
c.1613A>C (p.Glu538Ala)
9g.135770357A>GCA375506439KCNT1c.1679A>G (p.Glu560Gly)
c.1520A>G (p.Glu507Gly)
c.1427A>G (p.Glu476Gly)
c.1436A>G (p.Glu479Gly)
c.1580A>G (p.Glu527Gly)
c.*1289A>G (n.*1289A>G)
c.1562A>G (p.Glu521Gly)
c.1622A>G (p.Glu541Gly)
n.1498A>G
c.1544A>G (p.Glu515Gly)
c.1814A>G (p.Glu605Gly)
c.1823A>G (p.Glu608Gly)
c.1169A>G (p.Glu390Gly)
c.1613A>G (p.Glu538Gly)
 COSMIC COSMIC
9g.135770357A>TCA375506442KCNT1c.1679A>T (p.Glu560Val)
c.1520A>T (p.Glu507Val)
c.1427A>T (p.Glu476Val)
c.1436A>T (p.Glu479Val)
c.1580A>T (p.Glu527Val)
c.*1289A>T (n.*1289A>T)
c.1562A>T (p.Glu521Val)
c.1622A>T (p.Glu541Val)
n.1498A>T
c.1544A>T (p.Glu515Val)
c.1814A>T (p.Glu605Val)
c.1823A>T (p.Glu608Val)
c.1169A>T (p.Glu390Val)
c.1613A>T (p.Glu538Val)
9g.135770358G>ACA5327025KCNT1c.1680G>A (p.Glu560=)
c.1521G>A (p.Glu507=)
c.1428G>A (p.Glu476=)
c.1437G>A (p.Glu479=)
c.1581G>A (p.Glu527=)
c.*1290G>A (n.*1290G>A)
c.1563G>A (p.Glu521=)
c.1623G>A (p.Glu541=)
n.1499G>A
c.1545G>A (p.Glu515=)
c.1815G>A (p.Glu605=)
c.1824G>A (p.Glu608=)
c.1170G>A (p.Glu390=)
c.1614G>A (p.Glu538=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770358G>CCA375506447KCNT1c.1680G>C (p.Glu560Asp)
c.1521G>C (p.Glu507Asp)
c.1428G>C (p.Glu476Asp)
c.1437G>C (p.Glu479Asp)
c.1581G>C (p.Glu527Asp)
c.*1290G>C (n.*1290G>C)
c.1563G>C (p.Glu521Asp)
c.1623G>C (p.Glu541Asp)
n.1499G>C
c.1545G>C (p.Glu515Asp)
c.1815G>C (p.Glu605Asp)
c.1824G>C (p.Glu608Asp)
c.1170G>C (p.Glu390Asp)
c.1614G>C (p.Glu538Asp)
9g.135770358G=CA1883873380KCNT1c.1680G= (p.Glu560=)
c.1521G= (p.Glu507=)
c.1428G= (p.Glu476=)
c.1437G= (p.Glu479=)
c.1581G= (p.Glu527=)
c.*1290G= (n.*1290G=)
c.1563G= (p.Glu521=)
c.1623G= (p.Glu541=)
n.1499G=
c.1545G= (p.Glu515=)
c.1815G= (p.Glu605=)
c.1824G= (p.Glu608=)
c.1170G= (p.Glu390=)
c.1614G= (p.Glu538=)
9g.135770358G>TCA375506448KCNT1c.1680G>T (p.Glu560Asp)
c.1521G>T (p.Glu507Asp)
c.1428G>T (p.Glu476Asp)
c.1437G>T (p.Glu479Asp)
c.1581G>T (p.Glu527Asp)
c.*1290G>T (n.*1290G>T)
c.1563G>T (p.Glu521Asp)
c.1623G>T (p.Glu541Asp)
n.1499G>T
c.1545G>T (p.Glu515Asp)
c.1815G>T (p.Glu605Asp)
c.1824G>T (p.Glu608Asp)
c.1170G>T (p.Glu390Asp)
c.1614G>T (p.Glu538Asp)
9g.135770359G>ACA375506449KCNT1c.1681G>A (p.Val561Met)
c.1522G>A (p.Val508Met)
c.1429G>A (p.Val477Met)
c.1438G>A (p.Val480Met)
c.1582G>A (p.Val528Met)
c.*1291G>A (n.*1291G>A)
c.1564G>A (p.Val522Met)
c.1624G>A (p.Val542Met)
n.1500G>A
c.1546G>A (p.Val516Met)
c.1816G>A (p.Val606Met)
c.1825G>A (p.Val609Met)
c.1171G>A (p.Val391Met)
c.1615G>A (p.Val539Met)
 gnomAD v4
9g.135770359G>CCA375506450KCNT1c.1681G>C (p.Val561Leu)
c.1522G>C (p.Val508Leu)
c.1429G>C (p.Val477Leu)
c.1438G>C (p.Val480Leu)
c.1582G>C (p.Val528Leu)
c.*1291G>C (n.*1291G>C)
c.1564G>C (p.Val522Leu)
c.1624G>C (p.Val542Leu)
n.1500G>C
c.1546G>C (p.Val516Leu)
c.1816G>C (p.Val606Leu)
c.1825G>C (p.Val609Leu)
c.1171G>C (p.Val391Leu)
c.1615G>C (p.Val539Leu)
 gnomAD v4
9g.135770359G>TCA375506451KCNT1c.1681G>T (p.Val561Leu)
c.1522G>T (p.Val508Leu)
c.1429G>T (p.Val477Leu)
c.1438G>T (p.Val480Leu)
c.1582G>T (p.Val528Leu)
c.*1291G>T (n.*1291G>T)
c.1564G>T (p.Val522Leu)
c.1624G>T (p.Val542Leu)
n.1500G>T
c.1546G>T (p.Val516Leu)
c.1816G>T (p.Val606Leu)
c.1825G>T (p.Val609Leu)
c.1171G>T (p.Val391Leu)
c.1615G>T (p.Val539Leu)
9g.135770360T>ACA375506453KCNT1c.1682T>A (p.Val561Glu)
c.1523T>A (p.Val508Glu)
c.1430T>A (p.Val477Glu)
c.1439T>A (p.Val480Glu)
c.1583T>A (p.Val528Glu)
c.*1292T>A (n.*1292T>A)
c.1565T>A (p.Val522Glu)
c.1625T>A (p.Val542Glu)
n.1501T>A
c.1547T>A (p.Val516Glu)
c.1817T>A (p.Val606Glu)
c.1826T>A (p.Val609Glu)
c.1172T>A (p.Val391Glu)
c.1616T>A (p.Val539Glu)
9g.135770360T>CCA375506455KCNT1c.1682T>C (p.Val561Ala)
c.1523T>C (p.Val508Ala)
c.1430T>C (p.Val477Ala)
c.1439T>C (p.Val480Ala)
c.1583T>C (p.Val528Ala)
c.*1292T>C (n.*1292T>C)
c.1565T>C (p.Val522Ala)
c.1625T>C (p.Val542Ala)
n.1501T>C
c.1547T>C (p.Val516Ala)
c.1817T>C (p.Val606Ala)
c.1826T>C (p.Val609Ala)
c.1172T>C (p.Val391Ala)
c.1616T>C (p.Val539Ala)
9g.135770360T>GCA375506456KCNT1c.1682T>G (p.Val561Gly)
c.1523T>G (p.Val508Gly)
c.1430T>G (p.Val477Gly)
c.1439T>G (p.Val480Gly)
c.1583T>G (p.Val528Gly)
c.*1292T>G (n.*1292T>G)
c.1565T>G (p.Val522Gly)
c.1625T>G (p.Val542Gly)
n.1501T>G
c.1547T>G (p.Val516Gly)
c.1817T>G (p.Val606Gly)
c.1826T>G (p.Val609Gly)
c.1172T>G (p.Val391Gly)
c.1616T>G (p.Val539Gly)
9g.135770361G>ACA467698523KCNT1c.1683G>A (p.Val561=)
c.1524G>A (p.Val508=)
c.1431G>A (p.Val477=)
c.1440G>A (p.Val480=)
c.1584G>A (p.Val528=)
c.*1293G>A (n.*1293G>A)
c.1566G>A (p.Val522=)
c.1626G>A (p.Val542=)
n.1502G>A
c.1548G>A (p.Val516=)
c.1818G>A (p.Val606=)
c.1827G>A (p.Val609=)
c.1173G>A (p.Val391=)
c.1617G>A (p.Val539=)
 ClinVar dbSNP gnomAD v4
9g.135770361G>CCA467698525KCNT1c.1683G>C (p.Val561=)
c.1524G>C (p.Val508=)
c.1431G>C (p.Val477=)
c.1440G>C (p.Val480=)
c.1584G>C (p.Val528=)
c.*1293G>C (n.*1293G>C)
c.1566G>C (p.Val522=)
c.1626G>C (p.Val542=)
n.1502G>C
c.1548G>C (p.Val516=)
c.1818G>C (p.Val606=)
c.1827G>C (p.Val609=)
c.1173G>C (p.Val391=)
c.1617G>C (p.Val539=)
 dbSNP gnomAD v2 gnomAD v4
9g.135770361G=CA1883873393KCNT1c.1683G= (p.Val561=)
c.1524G= (p.Val508=)
c.1431G= (p.Val477=)
c.1440G= (p.Val480=)
c.1584G= (p.Val528=)
c.*1293G= (n.*1293G=)
c.1566G= (p.Val522=)
c.1626G= (p.Val542=)
n.1502G=
c.1548G= (p.Val516=)
c.1818G= (p.Val606=)
c.1827G= (p.Val609=)
c.1173G= (p.Val391=)
c.1617G= (p.Val539=)
9g.135770361G>TCA467698524KCNT1c.1683G>T (p.Val561=)
c.1524G>T (p.Val508=)
c.1431G>T (p.Val477=)
c.1440G>T (p.Val480=)
c.1584G>T (p.Val528=)
c.*1293G>T (n.*1293G>T)
c.1566G>T (p.Val522=)
c.1626G>T (p.Val542=)
n.1502G>T
c.1548G>T (p.Val516=)
c.1818G>T (p.Val606=)
c.1827G>T (p.Val609=)
c.1173G>T (p.Val391=)
c.1617G>T (p.Val539=)
9g.135770362T>ACA375506458KCNT1c.1684T>A (p.Tyr562Asn)
c.1525T>A (p.Tyr509Asn)
c.1432T>A (p.Tyr478Asn)
c.1441T>A (p.Tyr481Asn)
c.1585T>A (p.Tyr529Asn)
c.*1294T>A (n.*1294T>A)
c.1567T>A (p.Tyr523Asn)
c.1627T>A (p.Tyr543Asn)
n.1503T>A
c.1549T>A (p.Tyr517Asn)
c.1819T>A (p.Tyr607Asn)
c.1828T>A (p.Tyr610Asn)
c.1174T>A (p.Tyr392Asn)
c.1618T>A (p.Tyr540Asn)
9g.135770362T>CCA375506460KCNT1c.1684T>C (p.Tyr562His)
c.1525T>C (p.Tyr509His)
c.1432T>C (p.Tyr478His)
c.1441T>C (p.Tyr481His)
c.1585T>C (p.Tyr529His)
c.*1294T>C (n.*1294T>C)
c.1567T>C (p.Tyr523His)
c.1627T>C (p.Tyr543His)
n.1503T>C
c.1549T>C (p.Tyr517His)
c.1819T>C (p.Tyr607His)
c.1828T>C (p.Tyr610His)
c.1174T>C (p.Tyr392His)
c.1618T>C (p.Tyr540His)
 ClinVar
9g.135770362T>GCA375506461KCNT1c.1684T>G (p.Tyr562Asp)
c.1525T>G (p.Tyr509Asp)
c.1432T>G (p.Tyr478Asp)
c.1441T>G (p.Tyr481Asp)
c.1585T>G (p.Tyr529Asp)
c.*1294T>G (n.*1294T>G)
c.1567T>G (p.Tyr523Asp)
c.1627T>G (p.Tyr543Asp)
n.1503T>G
c.1549T>G (p.Tyr517Asp)
c.1819T>G (p.Tyr607Asp)
c.1828T>G (p.Tyr610Asp)
c.1174T>G (p.Tyr392Asp)
c.1618T>G (p.Tyr540Asp)
9g.135770363A=CA1883873401KCNT1c.1685A= (p.Tyr562=)
c.1526A= (p.Tyr509=)
c.1433A= (p.Tyr478=)
c.1442A= (p.Tyr481=)
c.1586A= (p.Tyr529=)
c.*1295A= (n.*1295A=)
c.1568A= (p.Tyr523=)
c.1628A= (p.Tyr543=)
n.1504A=
c.1550A= (p.Tyr517=)
c.1820A= (p.Tyr607=)
c.1829A= (p.Tyr610=)
c.1175A= (p.Tyr392=)
c.1619A= (p.Tyr540=)
9g.135770363A>CCA375506463KCNT1c.1685A>C (p.Tyr562Ser)
c.1526A>C (p.Tyr509Ser)
c.1433A>C (p.Tyr478Ser)
c.1442A>C (p.Tyr481Ser)
c.1586A>C (p.Tyr529Ser)
c.*1295A>C (n.*1295A>C)
c.1568A>C (p.Tyr523Ser)
c.1628A>C (p.Tyr543Ser)
n.1504A>C
c.1550A>C (p.Tyr517Ser)
c.1820A>C (p.Tyr607Ser)
c.1829A>C (p.Tyr610Ser)
c.1175A>C (p.Tyr392Ser)
c.1619A>C (p.Tyr540Ser)
9g.135770363A>GCA375506467KCNT1c.1685A>G (p.Tyr562Cys)
c.1526A>G (p.Tyr509Cys)
c.1433A>G (p.Tyr478Cys)
c.1442A>G (p.Tyr481Cys)
c.1586A>G (p.Tyr529Cys)
c.*1295A>G (n.*1295A>G)
c.1568A>G (p.Tyr523Cys)
c.1628A>G (p.Tyr543Cys)
n.1504A>G
c.1550A>G (p.Tyr517Cys)
c.1820A>G (p.Tyr607Cys)
c.1829A>G (p.Tyr610Cys)
c.1175A>G (p.Tyr392Cys)
c.1619A>G (p.Tyr540Cys)
 ClinVar dbSNP
9g.135770363A>TCA375506465KCNT1c.1685A>T (p.Tyr562Phe)
c.1526A>T (p.Tyr509Phe)
c.1433A>T (p.Tyr478Phe)
c.1442A>T (p.Tyr481Phe)
c.1586A>T (p.Tyr529Phe)
c.*1295A>T (n.*1295A>T)
c.1568A>T (p.Tyr523Phe)
c.1628A>T (p.Tyr543Phe)
n.1504A>T
c.1550A>T (p.Tyr517Phe)
c.1820A>T (p.Tyr607Phe)
c.1829A>T (p.Tyr610Phe)
c.1175A>T (p.Tyr392Phe)
c.1619A>T (p.Tyr540Phe)
9g.135770364C>ACA375506469KCNT1c.1686C>A (p.Tyr562Ter)
c.1527C>A (p.Tyr509Ter)
c.1434C>A (p.Tyr478Ter)
c.1443C>A (p.Tyr481Ter)
c.1587C>A (p.Tyr529Ter)
c.*1296C>A (n.*1296C>A)
c.1569C>A (p.Tyr523Ter)
c.1629C>A (p.Tyr543Ter)
n.1505C>A
c.1551C>A (p.Tyr517Ter)
c.1821C>A (p.Tyr607Ter)
c.1830C>A (p.Tyr610Ter)
c.1176C>A (p.Tyr392Ter)
c.1620C>A (p.Tyr540Ter)
9g.135770364C=CA1883873407KCNT1c.1686C= (p.Tyr562=)
c.1527C= (p.Tyr509=)
c.1434C= (p.Tyr478=)
c.1443C= (p.Tyr481=)
c.1587C= (p.Tyr529=)
c.*1296C= (n.*1296C=)
c.1569C= (p.Tyr523=)
c.1629C= (p.Tyr543=)
n.1505C=
c.1551C= (p.Tyr517=)
c.1821C= (p.Tyr607=)
c.1830C= (p.Tyr610=)
c.1176C= (p.Tyr392=)
c.1620C= (p.Tyr540=)
9g.135770364C>GCA5327026KCNT1c.1686C>G (p.Tyr562Ter)
c.1527C>G (p.Tyr509Ter)
c.1434C>G (p.Tyr478Ter)
c.1443C>G (p.Tyr481Ter)
c.1587C>G (p.Tyr529Ter)
c.*1296C>G (n.*1296C>G)
c.1569C>G (p.Tyr523Ter)
c.1629C>G (p.Tyr543Ter)
n.1505C>G
c.1551C>G (p.Tyr517Ter)
c.1821C>G (p.Tyr607Ter)
c.1830C>G (p.Tyr610Ter)
c.1176C>G (p.Tyr392Ter)
c.1620C>G (p.Tyr540Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770364C>TCA467698526KCNT1c.1686C>T (p.Tyr562=)
c.1527C>T (p.Tyr509=)
c.1434C>T (p.Tyr478=)
c.1443C>T (p.Tyr481=)
c.1587C>T (p.Tyr529=)
c.*1296C>T (n.*1296C>T)
c.1569C>T (p.Tyr523=)
c.1629C>T (p.Tyr543=)
n.1505C>T
c.1551C>T (p.Tyr517=)
c.1821C>T (p.Tyr607=)
c.1830C>T (p.Tyr610=)
c.1176C>T (p.Tyr392=)
c.1620C>T (p.Tyr540=)
 ClinVar dbSNP gnomAD v3
9g.135770365C>ACA375506473KCNT1c.1687C>A (p.His563Asn)
c.1528C>A (p.His510Asn)
c.1435C>A (p.His479Asn)
c.1444C>A (p.His482Asn)
c.1588C>A (p.His530Asn)
c.*1297C>A (n.*1297C>A)
c.1570C>A (p.His524Asn)
c.1630C>A (p.His544Asn)
n.1506C>A
c.1552C>A (p.His518Asn)
c.1822C>A (p.His608Asn)
c.1831C>A (p.His611Asn)
c.1177C>A (p.His393Asn)
c.1621C>A (p.His541Asn)
 gnomAD v4
9g.135770365C=CA1883873413KCNT1c.1687C= (p.His563=)
c.1528C= (p.His510=)
c.1435C= (p.His479=)
c.1444C= (p.His482=)
c.1588C= (p.His530=)
c.*1297C= (n.*1297C=)
c.1570C= (p.His524=)
c.1630C= (p.His544=)
n.1506C=
c.1552C= (p.His518=)
c.1822C= (p.His608=)
c.1831C= (p.His611=)
c.1177C= (p.His393=)
c.1621C= (p.His541=)
9g.135770365C>GCA375506476KCNT1c.1687C>G (p.His563Asp)
c.1528C>G (p.His510Asp)
c.1435C>G (p.His479Asp)
c.1444C>G (p.His482Asp)
c.1588C>G (p.His530Asp)
c.*1297C>G (n.*1297C>G)
c.1570C>G (p.His524Asp)
c.1630C>G (p.His544Asp)
n.1506C>G
c.1552C>G (p.His518Asp)
c.1822C>G (p.His608Asp)
c.1831C>G (p.His611Asp)
c.1177C>G (p.His393Asp)
c.1621C>G (p.His541Asp)
9g.135770365C>TCA375506479KCNT1c.1687C>T (p.His563Tyr)
c.1528C>T (p.His510Tyr)
c.1435C>T (p.His479Tyr)
c.1444C>T (p.His482Tyr)
c.1588C>T (p.His530Tyr)
c.*1297C>T (n.*1297C>T)
c.1570C>T (p.His524Tyr)
c.1630C>T (p.His544Tyr)
n.1506C>T
c.1552C>T (p.His518Tyr)
c.1822C>T (p.His608Tyr)
c.1831C>T (p.His611Tyr)
c.1177C>T (p.His393Tyr)
c.1621C>T (p.His541Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135770366A>CCA375506486KCNT1c.1688A>C (p.His563Pro)
c.1529A>C (p.His510Pro)
c.1436A>C (p.His479Pro)
c.1445A>C (p.His482Pro)
c.1589A>C (p.His530Pro)
c.*1298A>C (n.*1298A>C)
c.1571A>C (p.His524Pro)
c.1631A>C (p.His544Pro)
n.1507A>C
c.1553A>C (p.His518Pro)
c.1823A>C (p.His608Pro)
c.1832A>C (p.His611Pro)
c.1178A>C (p.His393Pro)
c.1622A>C (p.His541Pro)
9g.135770366A>GCA375506489KCNT1c.1688A>G (p.His563Arg)
c.1529A>G (p.His510Arg)
c.1436A>G (p.His479Arg)
c.1445A>G (p.His482Arg)
c.1589A>G (p.His530Arg)
c.*1298A>G (n.*1298A>G)
c.1571A>G (p.His524Arg)
c.1631A>G (p.His544Arg)
n.1507A>G
c.1553A>G (p.His518Arg)
c.1823A>G (p.His608Arg)
c.1832A>G (p.His611Arg)
c.1178A>G (p.His393Arg)
c.1622A>G (p.His541Arg)
 ClinVar
9g.135770366A>TCA375506491KCNT1c.1688A>T (p.His563Leu)
c.1529A>T (p.His510Leu)
c.1436A>T (p.His479Leu)
c.1445A>T (p.His482Leu)
c.1589A>T (p.His530Leu)
c.*1298A>T (n.*1298A>T)
c.1571A>T (p.His524Leu)
c.1631A>T (p.His544Leu)
n.1507A>T
c.1553A>T (p.His518Leu)
c.1823A>T (p.His608Leu)
c.1832A>T (p.His611Leu)
c.1178A>T (p.His393Leu)
c.1622A>T (p.His541Leu)
9g.135770367C>ACA375506493KCNT1c.1689C>A (p.His563Gln)
c.1530C>A (p.His510Gln)
c.1437C>A (p.His479Gln)
c.1446C>A (p.His482Gln)
c.1590C>A (p.His530Gln)
c.*1299C>A (n.*1299C>A)
c.1572C>A (p.His524Gln)
c.1632C>A (p.His544Gln)
n.1508C>A
c.1554C>A (p.His518Gln)
c.1824C>A (p.His608Gln)
c.1833C>A (p.His611Gln)
c.1179C>A (p.His393Gln)
c.1623C>A (p.His541Gln)
9g.135770367C=CA1883873420KCNT1c.1689C= (p.His563=)
c.1530C= (p.His510=)
c.1437C= (p.His479=)
c.1446C= (p.His482=)
c.1590C= (p.His530=)
c.*1299C= (n.*1299C=)
c.1572C= (p.His524=)
c.1632C= (p.His544=)
n.1508C=
c.1554C= (p.His518=)
c.1824C= (p.His608=)
c.1833C= (p.His611=)
c.1179C= (p.His393=)
c.1623C= (p.His541=)
9g.135770367C>GCA375506496KCNT1c.1689C>G (p.His563Gln)
c.1530C>G (p.His510Gln)
c.1437C>G (p.His479Gln)
c.1446C>G (p.His482Gln)
c.1590C>G (p.His530Gln)
c.*1299C>G (n.*1299C>G)
c.1572C>G (p.His524Gln)
c.1632C>G (p.His544Gln)
n.1508C>G
c.1554C>G (p.His518Gln)
c.1824C>G (p.His608Gln)
c.1833C>G (p.His611Gln)
c.1179C>G (p.His393Gln)
c.1623C>G (p.His541Gln)
9g.135770367C>TCA5327027KCNT1c.1689C>T (p.His563=)
c.1530C>T (p.His510=)
c.1437C>T (p.His479=)
c.1446C>T (p.His482=)
c.1590C>T (p.His530=)
c.*1299C>T (n.*1299C>T)
c.1572C>T (p.His524=)
c.1632C>T (p.His544=)
n.1508C>T
c.1554C>T (p.His518=)
c.1824C>T (p.His608=)
c.1833C>T (p.His611=)
c.1179C>T (p.His393=)
c.1623C>T (p.His541=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770368A>CCA375506509KCNT1c.1690A>C (p.Ile564Leu)
c.1531A>C (p.Ile511Leu)
c.1438A>C (p.Ile480Leu)
c.1447A>C (p.Ile483Leu)
c.1591A>C (p.Ile531Leu)
c.*1300A>C (n.*1300A>C)
c.1573A>C (p.Ile525Leu)
c.1633A>C (p.Ile545Leu)
n.1509A>C
c.1555A>C (p.Ile519Leu)
c.1825A>C (p.Ile609Leu)
c.1834A>C (p.Ile612Leu)
c.1180A>C (p.Ile394Leu)
c.1624A>C (p.Ile542Leu)
9g.135770368A>GCA375506506KCNT1c.1690A>G (p.Ile564Val)
c.1531A>G (p.Ile511Val)
c.1438A>G (p.Ile480Val)
c.1447A>G (p.Ile483Val)
c.1591A>G (p.Ile531Val)
c.*1300A>G (n.*1300A>G)
c.1573A>G (p.Ile525Val)
c.1633A>G (p.Ile545Val)
n.1509A>G
c.1555A>G (p.Ile519Val)
c.1825A>G (p.Ile609Val)
c.1834A>G (p.Ile612Val)
c.1180A>G (p.Ile394Val)
c.1624A>G (p.Ile542Val)
9g.135770368A>TCA375506503KCNT1c.1690A>T (p.Ile564Phe)
c.1531A>T (p.Ile511Phe)
c.1438A>T (p.Ile480Phe)
c.1447A>T (p.Ile483Phe)
c.1591A>T (p.Ile531Phe)
c.*1300A>T (n.*1300A>T)
c.1573A>T (p.Ile525Phe)
c.1633A>T (p.Ile545Phe)
n.1509A>T
c.1555A>T (p.Ile519Phe)
c.1825A>T (p.Ile609Phe)
c.1834A>T (p.Ile612Phe)
c.1180A>T (p.Ile394Phe)
c.1624A>T (p.Ile542Phe)
9g.135770369T>ACA375506512KCNT1c.1691T>A (p.Ile564Asn)
c.1532T>A (p.Ile511Asn)
c.1439T>A (p.Ile480Asn)
c.1448T>A (p.Ile483Asn)
c.1592T>A (p.Ile531Asn)
c.*1301T>A (n.*1301T>A)
c.1574T>A (p.Ile525Asn)
c.1634T>A (p.Ile545Asn)
n.1510T>A
c.1556T>A (p.Ile519Asn)
c.1826T>A (p.Ile609Asn)
c.1835T>A (p.Ile612Asn)
c.1181T>A (p.Ile394Asn)
c.1625T>A (p.Ile542Asn)
9g.135770369T>CCA375506515KCNT1c.1691T>C (p.Ile564Thr)
c.1532T>C (p.Ile511Thr)
c.1439T>C (p.Ile480Thr)
c.1448T>C (p.Ile483Thr)
c.1592T>C (p.Ile531Thr)
c.*1301T>C (n.*1301T>C)
c.1574T>C (p.Ile525Thr)
c.1634T>C (p.Ile545Thr)
n.1510T>C
c.1556T>C (p.Ile519Thr)
c.1826T>C (p.Ile609Thr)
c.1835T>C (p.Ile612Thr)
c.1181T>C (p.Ile394Thr)
c.1625T>C (p.Ile542Thr)
9g.135770369T>GCA375506518KCNT1c.1691T>G (p.Ile564Ser)
c.1532T>G (p.Ile511Ser)
c.1439T>G (p.Ile480Ser)
c.1448T>G (p.Ile483Ser)
c.1592T>G (p.Ile531Ser)
c.*1301T>G (n.*1301T>G)
c.1574T>G (p.Ile525Ser)
c.1634T>G (p.Ile545Ser)
n.1510T>G
c.1556T>G (p.Ile519Ser)
c.1826T>G (p.Ile609Ser)
c.1835T>G (p.Ile612Ser)
c.1181T>G (p.Ile394Ser)
c.1625T>G (p.Ile542Ser)
9g.135770370C>ACA467698527KCNT1c.1692C>A (p.Ile564=)
c.1533C>A (p.Ile511=)
c.1440C>A (p.Ile480=)
c.1449C>A (p.Ile483=)
c.1593C>A (p.Ile531=)
c.*1302C>A (n.*1302C>A)
c.1575C>A (p.Ile525=)
c.1635C>A (p.Ile545=)
n.1511C>A
c.1557C>A (p.Ile519=)
c.1827C>A (p.Ile609=)
c.1836C>A (p.Ile612=)
c.1182C>A (p.Ile394=)
c.1626C>A (p.Ile542=)
9g.135770370C=CA1883873425KCNT1c.1692C= (p.Ile564=)
c.1533C= (p.Ile511=)
c.1440C= (p.Ile480=)
c.1449C= (p.Ile483=)
c.1593C= (p.Ile531=)
c.*1302C= (n.*1302C=)
c.1575C= (p.Ile525=)
c.1635C= (p.Ile545=)
n.1511C=
c.1557C= (p.Ile519=)
c.1827C= (p.Ile609=)
c.1836C= (p.Ile612=)
c.1182C= (p.Ile394=)
c.1626C= (p.Ile542=)
9g.135770370C>GCA375506522KCNT1c.1692C>G (p.Ile564Met)
c.1533C>G (p.Ile511Met)
c.1440C>G (p.Ile480Met)
c.1449C>G (p.Ile483Met)
c.1593C>G (p.Ile531Met)
c.*1302C>G (n.*1302C>G)
c.1575C>G (p.Ile525Met)
c.1635C>G (p.Ile545Met)
n.1511C>G
c.1557C>G (p.Ile519Met)
c.1827C>G (p.Ile609Met)
c.1836C>G (p.Ile612Met)
c.1182C>G (p.Ile394Met)
c.1626C>G (p.Ile542Met)
 dbSNP
9g.135770370C>TCA467698528KCNT1c.1692C>T (p.Ile564=)
c.1533C>T (p.Ile511=)
c.1440C>T (p.Ile480=)
c.1449C>T (p.Ile483=)
c.1593C>T (p.Ile531=)
c.*1302C>T (n.*1302C>T)
c.1575C>T (p.Ile525=)
c.1635C>T (p.Ile545=)
n.1511C>T
c.1557C>T (p.Ile519=)
c.1827C>T (p.Ile609=)
c.1836C>T (p.Ile612=)
c.1182C>T (p.Ile394=)
c.1626C>T (p.Ile542=)
9g.135770371C>ACA375506525KCNT1c.1693C>A (p.Arg565Ser)
c.1534C>A (p.Arg512Ser)
c.1441C>A (p.Arg481Ser)
c.1450C>A (p.Arg484Ser)
c.1594C>A (p.Arg532Ser)
c.*1303C>A (n.*1303C>A)
c.1576C>A (p.Arg526Ser)
c.1636C>A (p.Arg546Ser)
n.1512C>A
c.1558C>A (p.Arg520Ser)
c.1828C>A (p.Arg610Ser)
c.1837C>A (p.Arg613Ser)
c.1183C>A (p.Arg395Ser)
c.1627C>A (p.Arg543Ser)
9g.135770371C=CA1883873431KCNT1c.1693C= (p.Arg565=)
c.1534C= (p.Arg512=)
c.1441C= (p.Arg481=)
c.1450C= (p.Arg484=)
c.1594C= (p.Arg532=)
c.*1303C= (n.*1303C=)
c.1576C= (p.Arg526=)
c.1636C= (p.Arg546=)
n.1512C=
c.1558C= (p.Arg520=)
c.1828C= (p.Arg610=)
c.1837C= (p.Arg613=)
c.1183C= (p.Arg395=)
c.1627C= (p.Arg543=)
9g.135770371C>GCA375506527KCNT1c.1693C>G (p.Arg565Gly)
c.1534C>G (p.Arg512Gly)
c.1441C>G (p.Arg481Gly)
c.1450C>G (p.Arg484Gly)
c.1594C>G (p.Arg532Gly)
c.*1303C>G (n.*1303C>G)
c.1576C>G (p.Arg526Gly)
c.1636C>G (p.Arg546Gly)
n.1512C>G
c.1558C>G (p.Arg520Gly)
c.1828C>G (p.Arg610Gly)
c.1837C>G (p.Arg613Gly)
c.1183C>G (p.Arg395Gly)
c.1627C>G (p.Arg543Gly)
9g.135770371C>TCA5327028KCNT1c.1693C>T (p.Arg565Cys)
c.1534C>T (p.Arg512Cys)
c.1441C>T (p.Arg481Cys)
c.1450C>T (p.Arg484Cys)
c.1594C>T (p.Arg532Cys)
c.*1303C>T (n.*1303C>T)
c.1576C>T (p.Arg526Cys)
c.1636C>T (p.Arg546Cys)
n.1512C>T
c.1558C>T (p.Arg520Cys)
c.1828C>T (p.Arg610Cys)
c.1837C>T (p.Arg613Cys)
c.1183C>T (p.Arg395Cys)
c.1627C>T (p.Arg543Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770372G>ACA5327029KCNT1c.1694G>A (p.Arg565His)
c.1535G>A (p.Arg512His)
c.1442G>A (p.Arg481His)
c.1451G>A (p.Arg484His)
c.1595G>A (p.Arg532His)
c.*1304G>A (n.*1304G>A)
c.1577G>A (p.Arg526His)
c.1637G>A (p.Arg546His)
n.1513G>A
c.1559G>A (p.Arg520His)
c.1829G>A (p.Arg610His)
c.1838G>A (p.Arg613His)
c.1184G>A (p.Arg395His)
c.1628G>A (p.Arg543His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135770372G>CCA375506534KCNT1c.1694G>C (p.Arg565Pro)
c.1535G>C (p.Arg512Pro)
c.1442G>C (p.Arg481Pro)
c.1451G>C (p.Arg484Pro)
c.1595G>C (p.Arg532Pro)
c.*1304G>C (n.*1304G>C)
c.1577G>C (p.Arg526Pro)
c.1637G>C (p.Arg546Pro)
n.1513G>C
c.1559G>C (p.Arg520Pro)
c.1829G>C (p.Arg610Pro)
c.1838G>C (p.Arg613Pro)
c.1184G>C (p.Arg395Pro)
c.1628G>C (p.Arg543Pro)
 dbSNP gnomAD v2
9g.135770372G=CA1883873443KCNT1c.1694G= (p.Arg565=)
c.1535G= (p.Arg512=)
c.1442G= (p.Arg481=)
c.1451G= (p.Arg484=)
c.1595G= (p.Arg532=)
c.*1304G= (n.*1304G=)
c.1577G= (p.Arg526=)
c.1637G= (p.Arg546=)
n.1513G=
c.1559G= (p.Arg520=)
c.1829G= (p.Arg610=)
c.1838G= (p.Arg613=)
c.1184G= (p.Arg395=)
c.1628G= (p.Arg543=)
9g.135770372G>TCA5327030KCNT1c.1694G>T (p.Arg565Leu)
c.1535G>T (p.Arg512Leu)
c.1442G>T (p.Arg481Leu)
c.1451G>T (p.Arg484Leu)
c.1595G>T (p.Arg532Leu)
c.*1304G>T (n.*1304G>T)
c.1577G>T (p.Arg526Leu)
c.1637G>T (p.Arg546Leu)
n.1513G>T
c.1559G>T (p.Arg520Leu)
c.1829G>T (p.Arg610Leu)
c.1838G>T (p.Arg613Leu)
c.1184G>T (p.Arg395Leu)
c.1628G>T (p.Arg543Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770373C>ACA5327031KCNT1c.1695C>A (p.Arg565=)
c.1536C>A (p.Arg512=)
c.1443C>A (p.Arg481=)
c.1452C>A (p.Arg484=)
c.1596C>A (p.Arg532=)
c.*1305C>A (n.*1305C>A)
c.1578C>A (p.Arg526=)
c.1638C>A (p.Arg546=)
n.1514C>A
c.1560C>A (p.Arg520=)
c.1830C>A (p.Arg610=)
c.1839C>A (p.Arg613=)
c.1185C>A (p.Arg395=)
c.1629C>A (p.Arg543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770373C=CA1883873452KCNT1c.1695C= (p.Arg565=)
c.1536C= (p.Arg512=)
c.1443C= (p.Arg481=)
c.1452C= (p.Arg484=)
c.1596C= (p.Arg532=)
c.*1305C= (n.*1305C=)
c.1578C= (p.Arg526=)
c.1638C= (p.Arg546=)
n.1514C=
c.1560C= (p.Arg520=)
c.1830C= (p.Arg610=)
c.1839C= (p.Arg613=)
c.1185C= (p.Arg395=)
c.1629C= (p.Arg543=)
9g.135770373C>GCA467698529KCNT1c.1695C>G (p.Arg565=)
c.1536C>G (p.Arg512=)
c.1443C>G (p.Arg481=)
c.1452C>G (p.Arg484=)
c.1596C>G (p.Arg532=)
c.*1305C>G (n.*1305C>G)
c.1578C>G (p.Arg526=)
c.1638C>G (p.Arg546=)
n.1514C>G
c.1560C>G (p.Arg520=)
c.1830C>G (p.Arg610=)
c.1839C>G (p.Arg613=)
c.1185C>G (p.Arg395=)
c.1629C>G (p.Arg543=)
9g.135770373C>TCA5327032KCNT1c.1695C>T (p.Arg565=)
c.1536C>T (p.Arg512=)
c.1443C>T (p.Arg481=)
c.1452C>T (p.Arg484=)
c.1596C>T (p.Arg532=)
c.*1305C>T (n.*1305C>T)
c.1578C>T (p.Arg526=)
c.1638C>T (p.Arg546=)
n.1514C>T
c.1560C>T (p.Arg520=)
c.1830C>T (p.Arg610=)
c.1839C>T (p.Arg613=)
c.1185C>T (p.Arg395=)
c.1629C>T (p.Arg543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770374A=CA1883873458KCNT1c.1696A= (p.Met566=)
c.1537A= (p.Met513=)
c.1444A= (p.Met482=)
c.1453A= (p.Met485=)
c.1597A= (p.Met533=)
c.*1306A= (n.*1306A=)
c.1579A= (p.Met527=)
c.1639A= (p.Met547=)
n.1515A=
c.1561A= (p.Met521=)
c.1831A= (p.Met611=)
c.1840A= (p.Met614=)
c.1186A= (p.Met396=)
c.1630A= (p.Met544=)
9g.135770374A>CCA375506543KCNT1c.1696A>C (p.Met566Leu)
c.1537A>C (p.Met513Leu)
c.1444A>C (p.Met482Leu)
c.1453A>C (p.Met485Leu)
c.1597A>C (p.Met533Leu)
c.*1306A>C (n.*1306A>C)
c.1579A>C (p.Met527Leu)
c.1639A>C (p.Met547Leu)
n.1515A>C
c.1561A>C (p.Met521Leu)
c.1831A>C (p.Met611Leu)
c.1840A>C (p.Met614Leu)
c.1186A>C (p.Met396Leu)
c.1630A>C (p.Met544Leu)
 dbSNP gnomAD v4
9g.135770374A>GCA375506549KCNT1c.1696A>G (p.Met566Val)
c.1537A>G (p.Met513Val)
c.1444A>G (p.Met482Val)
c.1453A>G (p.Met485Val)
c.1597A>G (p.Met533Val)
c.*1306A>G (n.*1306A>G)
c.1579A>G (p.Met527Val)
c.1639A>G (p.Met547Val)
n.1515A>G
c.1561A>G (p.Met521Val)
c.1831A>G (p.Met611Val)
c.1840A>G (p.Met614Val)
c.1186A>G (p.Met396Val)
c.1630A>G (p.Met544Val)
 ClinVar dbSNP gnomAD v4
9g.135770374A>TCA375506547KCNT1c.1696A>T (p.Met566Leu)
c.1537A>T (p.Met513Leu)
c.1444A>T (p.Met482Leu)
c.1453A>T (p.Met485Leu)
c.1597A>T (p.Met533Leu)
c.*1306A>T (n.*1306A>T)
c.1579A>T (p.Met527Leu)
c.1639A>T (p.Met547Leu)
n.1515A>T
c.1561A>T (p.Met521Leu)
c.1831A>T (p.Met611Leu)
c.1840A>T (p.Met614Leu)
c.1186A>T (p.Met396Leu)
c.1630A>T (p.Met544Leu)
9g.135770375T>ACA375506552KCNT1c.1697T>A (p.Met566Lys)
c.1538T>A (p.Met513Lys)
c.1445T>A (p.Met482Lys)
c.1454T>A (p.Met485Lys)
c.1598T>A (p.Met533Lys)
c.*1307T>A (n.*1307T>A)
c.1580T>A (p.Met527Lys)
c.1640T>A (p.Met547Lys)
n.1516T>A
c.1562T>A (p.Met521Lys)
c.1832T>A (p.Met611Lys)
c.1841T>A (p.Met614Lys)
c.1187T>A (p.Met396Lys)
c.1631T>A (p.Met544Lys)
9g.135770375T>CCA375506558KCNT1c.1697T>C (p.Met566Thr)
c.1538T>C (p.Met513Thr)
c.1445T>C (p.Met482Thr)
c.1454T>C (p.Met485Thr)
c.1598T>C (p.Met533Thr)
c.*1307T>C (n.*1307T>C)
c.1580T>C (p.Met527Thr)
c.1640T>C (p.Met547Thr)
n.1516T>C
c.1562T>C (p.Met521Thr)
c.1832T>C (p.Met611Thr)
c.1841T>C (p.Met614Thr)
c.1187T>C (p.Met396Thr)
c.1631T>C (p.Met544Thr)
 ClinVar dbSNP
9g.135770375T>GCA375506555KCNT1c.1697T>G (p.Met566Arg)
c.1538T>G (p.Met513Arg)
c.1445T>G (p.Met482Arg)
c.1454T>G (p.Met485Arg)
c.1598T>G (p.Met533Arg)
c.*1307T>G (n.*1307T>G)
c.1580T>G (p.Met527Arg)
c.1640T>G (p.Met547Arg)
n.1516T>G
c.1562T>G (p.Met521Arg)
c.1832T>G (p.Met611Arg)
c.1841T>G (p.Met614Arg)
c.1187T>G (p.Met396Arg)
c.1631T>G (p.Met544Arg)
9g.135770375T=CA1883873462KCNT1c.1697T= (p.Met566=)
c.1538T= (p.Met513=)
c.1445T= (p.Met482=)
c.1454T= (p.Met485=)
c.1598T= (p.Met533=)
c.*1307T= (n.*1307T=)
c.1580T= (p.Met527=)
c.1640T= (p.Met547=)
n.1516T=
c.1562T= (p.Met521=)
c.1832T= (p.Met611=)
c.1841T= (p.Met614=)
c.1187T= (p.Met396=)
c.1631T= (p.Met544=)
9g.135770376G>ACA201472956KCNT1c.1698G>A (p.Met566Ile)
c.1539G>A (p.Met513Ile)
c.1446G>A (p.Met482Ile)
c.1455G>A (p.Met485Ile)
c.1599G>A (p.Met533Ile)
c.*1308G>A (n.*1308G>A)
c.1581G>A (p.Met527Ile)
c.1641G>A (p.Met547Ile)
n.1517G>A
c.1563G>A (p.Met521Ile)
c.1833G>A (p.Met611Ile)
c.1842G>A (p.Met614Ile)
c.1188G>A (p.Met396Ile)
c.1632G>A (p.Met544Ile)
 dbSNP gnomAD v4
9g.135770376G>CCA375506566KCNT1c.1698G>C (p.Met566Ile)
c.1539G>C (p.Met513Ile)
c.1446G>C (p.Met482Ile)
c.1455G>C (p.Met485Ile)
c.1599G>C (p.Met533Ile)
c.*1308G>C (n.*1308G>C)
c.1581G>C (p.Met527Ile)
c.1641G>C (p.Met547Ile)
n.1517G>C
c.1563G>C (p.Met521Ile)
c.1833G>C (p.Met611Ile)
c.1842G>C (p.Met614Ile)
c.1188G>C (p.Met396Ile)
c.1632G>C (p.Met544Ile)
9g.135770376G=CA1883873478KCNT1c.1698G= (p.Met566=)
c.1539G= (p.Met513=)
c.1446G= (p.Met482=)
c.1455G= (p.Met485=)
c.1599G= (p.Met533=)
c.*1308G= (n.*1308G=)
c.1581G= (p.Met527=)
c.1641G= (p.Met547=)
n.1517G=
c.1563G= (p.Met521=)
c.1833G= (p.Met611=)
c.1842G= (p.Met614=)
c.1188G= (p.Met396=)
c.1632G= (p.Met544=)
9g.135770376G>TCA375506563KCNT1c.1698G>T (p.Met566Ile)
c.1539G>T (p.Met513Ile)
c.1446G>T (p.Met482Ile)
c.1455G>T (p.Met485Ile)
c.1599G>T (p.Met533Ile)
c.*1308G>T (n.*1308G>T)
c.1581G>T (p.Met527Ile)
c.1641G>T (p.Met547Ile)
n.1517G>T
c.1563G>T (p.Met521Ile)
c.1833G>T (p.Met611Ile)
c.1842G>T (p.Met614Ile)
c.1188G>T (p.Met396Ile)
c.1632G>T (p.Met544Ile)
 gnomAD v4 COSMIC COSMIC
9g.135770376_135770377delinsGGCA1883873477KCNT1c.1698_1699delinsGG (p.Met566=)
c.1539_1540delinsGG (p.Met513=)
c.1446_1447delinsGG (p.Met482=)
c.1455_1456delinsGG (p.Met485=)
c.1599_1600delinsGG (p.Met533=)
c.*1308_*1309delinsGG (n.*1308_*1309delinsGG)
c.1581_1582delinsGG (p.Met527=)
c.1641_1642delinsGG (p.Met547=)
n.1517_1518delinsGG
c.1563_1564delinsGG (p.Met521=)
c.1833_1834delinsGG (p.Met611=)
c.1842_1843delinsGG (p.Met614=)
c.1188_1189delinsGG (p.Met396=)
c.1632_1633delinsGG (p.Met544=)
9g.135770376_135770377delinsTACA658797373KCNT1c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer)
c.1539_1540delinsTA (p.Met513_Gly514delinsIleSer)
c.1446_1447delinsTA (p.Met482_Gly483delinsIleSer)
c.1455_1456delinsTA (p.Met485_Gly486delinsIleSer)
c.1599_1600delinsTA (p.Met533_Gly534delinsIleSer)
c.*1308_*1309delinsTA (n.*1308_*1309delinsTA)
c.1581_1582delinsTA (p.Met527_Gly528delinsIleSer)
c.1641_1642delinsTA (p.Met547_Gly548delinsIleSer)
n.1517_1518delinsTA
c.1563_1564delinsTA (p.Met521_Gly522delinsIleSer)
c.1833_1834delinsTA (p.Met611_Gly612delinsIleSer)
c.1842_1843delinsTA (p.Met614_Gly615delinsIleSer)
c.1188_1189delinsTA (p.Met396_Gly397delinsIleSer)
c.1632_1633delinsTA (p.Met544_Gly545delinsIleSer)
 ClinVar dbSNP
9g.135770377G>ACA375506570KCNT1c.1699G>A (p.Gly567Ser)
c.1540G>A (p.Gly514Ser)
c.1447G>A (p.Gly483Ser)
c.1456G>A (p.Gly486Ser)
c.1600G>A (p.Gly534Ser)
c.*1309G>A (n.*1309G>A)
c.1582G>A (p.Gly528Ser)
c.1642G>A (p.Gly548Ser)
n.1518G>A
c.1564G>A (p.Gly522Ser)
c.1834G>A (p.Gly612Ser)
c.1843G>A (p.Gly615Ser)
c.1189G>A (p.Gly397Ser)
c.1633G>A (p.Gly545Ser)
 gnomAD v4
9g.135770377G>CCA375506575KCNT1c.1699G>C (p.Gly567Arg)
c.1540G>C (p.Gly514Arg)
c.1447G>C (p.Gly483Arg)
c.1456G>C (p.Gly486Arg)
c.1600G>C (p.Gly534Arg)
c.*1309G>C (n.*1309G>C)
c.1582G>C (p.Gly528Arg)
c.1642G>C (p.Gly548Arg)
n.1518G>C
c.1564G>C (p.Gly522Arg)
c.1834G>C (p.Gly612Arg)
c.1843G>C (p.Gly615Arg)
c.1189G>C (p.Gly397Arg)
c.1633G>C (p.Gly545Arg)
9g.135770377G>TCA375506573KCNT1c.1699G>T (p.Gly567Cys)
c.1540G>T (p.Gly514Cys)
c.1447G>T (p.Gly483Cys)
c.1456G>T (p.Gly486Cys)
c.1600G>T (p.Gly534Cys)
c.*1309G>T (n.*1309G>T)
c.1582G>T (p.Gly528Cys)
c.1642G>T (p.Gly548Cys)
n.1518G>T
c.1564G>T (p.Gly522Cys)
c.1834G>T (p.Gly612Cys)
c.1843G>T (p.Gly615Cys)
c.1189G>T (p.Gly397Cys)
c.1633G>T (p.Gly545Cys)
9g.135770378G>ACA375506578KCNT1c.1700G>A (p.Gly567Asp)
c.1541G>A (p.Gly514Asp)
c.1448G>A (p.Gly483Asp)
c.1457G>A (p.Gly486Asp)
c.1601G>A (p.Gly534Asp)
c.*1310G>A (n.*1310G>A)
c.1583G>A (p.Gly528Asp)
c.1643G>A (p.Gly548Asp)
n.1519G>A
c.1565G>A (p.Gly522Asp)
c.1835G>A (p.Gly612Asp)
c.1844G>A (p.Gly615Asp)
c.1190G>A (p.Gly397Asp)
c.1634G>A (p.Gly545Asp)
9g.135770378G>CCA375506580KCNT1c.1700G>C (p.Gly567Ala)
c.1541G>C (p.Gly514Ala)
c.1448G>C (p.Gly483Ala)
c.1457G>C (p.Gly486Ala)
c.1601G>C (p.Gly534Ala)
c.*1310G>C (n.*1310G>C)
c.1583G>C (p.Gly528Ala)
c.1643G>C (p.Gly548Ala)
n.1519G>C
c.1565G>C (p.Gly522Ala)
c.1835G>C (p.Gly612Ala)
c.1844G>C (p.Gly615Ala)
c.1190G>C (p.Gly397Ala)
c.1634G>C (p.Gly545Ala)
9g.135770378G=CA1883873486KCNT1c.1700G= (p.Gly567=)
c.1541G= (p.Gly514=)
c.1448G= (p.Gly483=)
c.1457G= (p.Gly486=)
c.1601G= (p.Gly534=)
c.*1310G= (n.*1310G=)
c.1583G= (p.Gly528=)
c.1643G= (p.Gly548=)
n.1519G=
c.1565G= (p.Gly522=)
c.1835G= (p.Gly612=)
c.1844G= (p.Gly615=)
c.1190G= (p.Gly397=)
c.1634G= (p.Gly545=)
9g.135770378G>TCA5327033KCNT1c.1700G>T (p.Gly567Val)
c.1541G>T (p.Gly514Val)
c.1448G>T (p.Gly483Val)
c.1457G>T (p.Gly486Val)
c.1601G>T (p.Gly534Val)
c.*1310G>T (n.*1310G>T)
c.1583G>T (p.Gly528Val)
c.1643G>T (p.Gly548Val)
n.1519G>T
c.1565G>T (p.Gly522Val)
c.1835G>T (p.Gly612Val)
c.1844G>T (p.Gly615Val)
c.1190G>T (p.Gly397Val)
c.1634G>T (p.Gly545Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770379T>ACA467698530KCNT1c.1701T>A (p.Gly567=)
c.1542T>A (p.Gly514=)
c.1449T>A (p.Gly483=)
c.1458T>A (p.Gly486=)
c.1602T>A (p.Gly534=)
c.*1311T>A (n.*1311T>A)
c.1584T>A (p.Gly528=)
c.1644T>A (p.Gly548=)
n.1520T>A
c.1566T>A (p.Gly522=)
c.1836T>A (p.Gly612=)
c.1845T>A (p.Gly615=)
c.1191T>A (p.Gly397=)
c.1635T>A (p.Gly545=)
9g.135770379T>CCA467698531KCNT1c.1701T>C (p.Gly567=)
c.1542T>C (p.Gly514=)
c.1449T>C (p.Gly483=)
c.1458T>C (p.Gly486=)
c.1602T>C (p.Gly534=)
c.*1311T>C (n.*1311T>C)
c.1584T>C (p.Gly528=)
c.1644T>C (p.Gly548=)
n.1520T>C
c.1566T>C (p.Gly522=)
c.1836T>C (p.Gly612=)
c.1845T>C (p.Gly615=)
c.1191T>C (p.Gly397=)
c.1635T>C (p.Gly545=)
9g.135770379T>GCA467698532KCNT1c.1701T>G (p.Gly567=)
c.1542T>G (p.Gly514=)
c.1449T>G (p.Gly483=)
c.1458T>G (p.Gly486=)
c.1602T>G (p.Gly534=)
c.*1311T>G (n.*1311T>G)
c.1584T>G (p.Gly528=)
c.1644T>G (p.Gly548=)
n.1520T>G
c.1566T>G (p.Gly522=)
c.1836T>G (p.Gly612=)
c.1845T>G (p.Gly615=)
c.1191T>G (p.Gly397=)
c.1635T>G (p.Gly545=)
9g.135770380G>ACA375506584KCNT1c.1702G>A (p.Asp568Asn)
c.1543G>A (p.Asp515Asn)
c.1450G>A (p.Asp484Asn)
c.1459G>A (p.Asp487Asn)
c.1603G>A (p.Asp535Asn)
c.*1312G>A (n.*1312G>A)
c.1585G>A (p.Asp529Asn)
c.1645G>A (p.Asp549Asn)
n.1521G>A
c.1567G>A (p.Asp523Asn)
c.1837G>A (p.Asp613Asn)
c.1846G>A (p.Asp616Asn)
c.1192G>A (p.Asp398Asn)
c.1636G>A (p.Asp546Asn)
9g.135770380G>CCA375506585KCNT1c.1702G>C (p.Asp568His)
c.1543G>C (p.Asp515His)
c.1450G>C (p.Asp484His)
c.1459G>C (p.Asp487His)
c.1603G>C (p.Asp535His)
c.*1312G>C (n.*1312G>C)
c.1585G>C (p.Asp529His)
c.1645G>C (p.Asp549His)
n.1521G>C
c.1567G>C (p.Asp523His)
c.1837G>C (p.Asp613His)
c.1846G>C (p.Asp616His)
c.1192G>C (p.Asp398His)
c.1636G>C (p.Asp546His)
9g.135770380G>TCA375506588KCNT1c.1702G>T (p.Asp568Tyr)
c.1543G>T (p.Asp515Tyr)
c.1450G>T (p.Asp484Tyr)
c.1459G>T (p.Asp487Tyr)
c.1603G>T (p.Asp535Tyr)
c.*1312G>T (n.*1312G>T)
c.1585G>T (p.Asp529Tyr)
c.1645G>T (p.Asp549Tyr)
n.1521G>T
c.1567G>T (p.Asp523Tyr)
c.1837G>T (p.Asp613Tyr)
c.1846G>T (p.Asp616Tyr)
c.1192G>T (p.Asp398Tyr)
c.1636G>T (p.Asp546Tyr)
9g.135770381A=CA1883873491KCNT1c.1703A= (p.Asp568=)
c.1544A= (p.Asp515=)
c.1451A= (p.Asp484=)
c.1460A= (p.Asp487=)
c.1604A= (p.Asp535=)
c.*1313A= (n.*1313A=)
c.1586A= (p.Asp529=)
c.1646A= (p.Asp549=)
n.1522A=
c.1568A= (p.Asp523=)
c.1838A= (p.Asp613=)
c.1847A= (p.Asp616=)
c.1193A= (p.Asp398=)
c.1637A= (p.Asp546=)
9g.135770381A>CCA375506590KCNT1c.1703A>C (p.Asp568Ala)
c.1544A>C (p.Asp515Ala)
c.1451A>C (p.Asp484Ala)
c.1460A>C (p.Asp487Ala)
c.1604A>C (p.Asp535Ala)
c.*1313A>C (n.*1313A>C)
c.1586A>C (p.Asp529Ala)
c.1646A>C (p.Asp549Ala)
n.1522A>C
c.1568A>C (p.Asp523Ala)
c.1838A>C (p.Asp613Ala)
c.1847A>C (p.Asp616Ala)
c.1193A>C (p.Asp398Ala)
c.1637A>C (p.Asp546Ala)
9g.135770381A>GCA5327034KCNT1c.1703A>G (p.Asp568Gly)
c.1544A>G (p.Asp515Gly)
c.1451A>G (p.Asp484Gly)
c.1460A>G (p.Asp487Gly)
c.1604A>G (p.Asp535Gly)
c.*1313A>G (n.*1313A>G)
c.1586A>G (p.Asp529Gly)
c.1646A>G (p.Asp549Gly)
n.1522A>G
c.1568A>G (p.Asp523Gly)
c.1838A>G (p.Asp613Gly)
c.1847A>G (p.Asp616Gly)
c.1193A>G (p.Asp398Gly)
c.1637A>G (p.Asp546Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770381A>TCA375506592KCNT1c.1703A>T (p.Asp568Val)
c.1544A>T (p.Asp515Val)
c.1451A>T (p.Asp484Val)
c.1460A>T (p.Asp487Val)
c.1604A>T (p.Asp535Val)
c.*1313A>T (n.*1313A>T)
c.1586A>T (p.Asp529Val)
c.1646A>T (p.Asp549Val)
n.1522A>T
c.1568A>T (p.Asp523Val)
c.1838A>T (p.Asp613Val)
c.1847A>T (p.Asp616Val)
c.1193A>T (p.Asp398Val)
c.1637A>T (p.Asp546Val)
9g.135770382C>ACA375506595KCNT1c.1704C>A (p.Asp568Glu)
c.1545C>A (p.Asp515Glu)
c.1452C>A (p.Asp484Glu)
c.1461C>A (p.Asp487Glu)
c.1605C>A (p.Asp535Glu)
c.*1314C>A (n.*1314C>A)
c.1587C>A (p.Asp529Glu)
c.1647C>A (p.Asp549Glu)
n.1523C>A
c.1569C>A (p.Asp523Glu)
c.1839C>A (p.Asp613Glu)
c.1848C>A (p.Asp616Glu)
c.1194C>A (p.Asp398Glu)
c.1638C>A (p.Asp546Glu)
9g.135770382C=CA1883873497KCNT1c.1704C= (p.Asp568=)
c.1545C= (p.Asp515=)
c.1452C= (p.Asp484=)
c.1461C= (p.Asp487=)
c.1605C= (p.Asp535=)
c.*1314C= (n.*1314C=)
c.1587C= (p.Asp529=)
c.1647C= (p.Asp549=)
n.1523C=
c.1569C= (p.Asp523=)
c.1839C= (p.Asp613=)
c.1848C= (p.Asp616=)
c.1194C= (p.Asp398=)
c.1638C= (p.Asp546=)
9g.135770382C>GCA375506598KCNT1c.1704C>G (p.Asp568Glu)
c.1545C>G (p.Asp515Glu)
c.1452C>G (p.Asp484Glu)
c.1461C>G (p.Asp487Glu)
c.1605C>G (p.Asp535Glu)
c.*1314C>G (n.*1314C>G)
c.1587C>G (p.Asp529Glu)
c.1647C>G (p.Asp549Glu)
n.1523C>G
c.1569C>G (p.Asp523Glu)
c.1839C>G (p.Asp613Glu)
c.1848C>G (p.Asp616Glu)
c.1194C>G (p.Asp398Glu)
c.1638C>G (p.Asp546Glu)
9g.135770382C>TCA5327035KCNT1c.1704C>T (p.Asp568=)
c.1545C>T (p.Asp515=)
c.1452C>T (p.Asp484=)
c.1461C>T (p.Asp487=)
c.1605C>T (p.Asp535=)
c.*1314C>T (n.*1314C>T)
c.1587C>T (p.Asp529=)
c.1647C>T (p.Asp549=)
n.1523C>T
c.1569C>T (p.Asp523=)
c.1839C>T (p.Asp613=)
c.1848C>T (p.Asp616=)
c.1194C>T (p.Asp398=)
c.1638C>T (p.Asp546=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770383A>CCA375506601KCNT1c.1705A>C (p.Ser569Arg)
c.1546A>C (p.Ser516Arg)
c.1453A>C (p.Ser485Arg)
c.1462A>C (p.Ser488Arg)
c.1606A>C (p.Ser536Arg)
c.*1315A>C (n.*1315A>C)
c.1588A>C (p.Ser530Arg)
c.1648A>C (p.Ser550Arg)
n.1524A>C
c.1570A>C (p.Ser524Arg)
c.1840A>C (p.Ser614Arg)
c.1849A>C (p.Ser617Arg)
c.1195A>C (p.Ser399Arg)
c.1639A>C (p.Ser547Arg)
9g.135770383A>GCA375506613KCNT1c.1705A>G (p.Ser569Gly)
c.1546A>G (p.Ser516Gly)
c.1453A>G (p.Ser485Gly)
c.1462A>G (p.Ser488Gly)
c.1606A>G (p.Ser536Gly)
c.*1315A>G (n.*1315A>G)
c.1588A>G (p.Ser530Gly)
c.1648A>G (p.Ser550Gly)
n.1524A>G
c.1570A>G (p.Ser524Gly)
c.1840A>G (p.Ser614Gly)
c.1849A>G (p.Ser617Gly)
c.1195A>G (p.Ser399Gly)
c.1639A>G (p.Ser547Gly)
 gnomAD v4
9g.135770383A>TCA375506603KCNT1c.1705A>T (p.Ser569Cys)
c.1546A>T (p.Ser516Cys)
c.1453A>T (p.Ser485Cys)
c.1462A>T (p.Ser488Cys)
c.1606A>T (p.Ser536Cys)
c.*1315A>T (n.*1315A>T)
c.1588A>T (p.Ser530Cys)
c.1648A>T (p.Ser550Cys)
n.1524A>T
c.1570A>T (p.Ser524Cys)
c.1840A>T (p.Ser614Cys)
c.1849A>T (p.Ser617Cys)
c.1195A>T (p.Ser399Cys)
c.1639A>T (p.Ser547Cys)
 COSMIC COSMIC
9g.135770384G>ACA5327036KCNT1c.1706G>A (p.Ser569Asn)
c.1547G>A (p.Ser516Asn)
c.1454G>A (p.Ser485Asn)
c.1463G>A (p.Ser488Asn)
c.1607G>A (p.Ser536Asn)
c.*1316G>A (n.*1316G>A)
c.1589G>A (p.Ser530Asn)
c.1649G>A (p.Ser550Asn)
n.1525G>A
c.1571G>A (p.Ser524Asn)
c.1841G>A (p.Ser614Asn)
c.1850G>A (p.Ser617Asn)
c.1196G>A (p.Ser399Asn)
c.1640G>A (p.Ser547Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770384G>CCA375506615KCNT1c.1706G>C (p.Ser569Thr)
c.1547G>C (p.Ser516Thr)
c.1454G>C (p.Ser485Thr)
c.1463G>C (p.Ser488Thr)
c.1607G>C (p.Ser536Thr)
c.*1316G>C (n.*1316G>C)
c.1589G>C (p.Ser530Thr)
c.1649G>C (p.Ser550Thr)
n.1525G>C
c.1571G>C (p.Ser524Thr)
c.1841G>C (p.Ser614Thr)
c.1850G>C (p.Ser617Thr)
c.1196G>C (p.Ser399Thr)
c.1640G>C (p.Ser547Thr)
9g.135770384G=CA1883873501KCNT1c.1706G= (p.Ser569=)
c.1547G= (p.Ser516=)
c.1454G= (p.Ser485=)
c.1463G= (p.Ser488=)
c.1607G= (p.Ser536=)
c.*1316G= (n.*1316G=)
c.1589G= (p.Ser530=)
c.1649G= (p.Ser550=)
n.1525G=
c.1571G= (p.Ser524=)
c.1841G= (p.Ser614=)
c.1850G= (p.Ser617=)
c.1196G= (p.Ser399=)
c.1640G= (p.Ser547=)
9g.135770384G>TCA375506616KCNT1c.1706G>T (p.Ser569Ile)
c.1547G>T (p.Ser516Ile)
c.1454G>T (p.Ser485Ile)
c.1463G>T (p.Ser488Ile)
c.1607G>T (p.Ser536Ile)
c.*1316G>T (n.*1316G>T)
c.1589G>T (p.Ser530Ile)
c.1649G>T (p.Ser550Ile)
n.1525G>T
c.1571G>T (p.Ser524Ile)
c.1841G>T (p.Ser614Ile)
c.1850G>T (p.Ser617Ile)
c.1196G>T (p.Ser399Ile)
c.1640G>T (p.Ser547Ile)
9g.135770385C>ACA375506619KCNT1c.1707C>A (p.Ser569Arg)
c.1548C>A (p.Ser516Arg)
c.1455C>A (p.Ser485Arg)
c.1464C>A (p.Ser488Arg)
c.1608C>A (p.Ser536Arg)
c.*1317C>A (n.*1317C>A)
c.1590C>A (p.Ser530Arg)
c.1650C>A (p.Ser550Arg)
n.1526C>A
c.1572C>A (p.Ser524Arg)
c.1842C>A (p.Ser614Arg)
c.1851C>A (p.Ser617Arg)
c.1197C>A (p.Ser399Arg)
c.1641C>A (p.Ser547Arg)
9g.135770385C>GCA375506620KCNT1c.1707C>G (p.Ser569Arg)
c.1548C>G (p.Ser516Arg)
c.1455C>G (p.Ser485Arg)
c.1464C>G (p.Ser488Arg)
c.1608C>G (p.Ser536Arg)
c.*1317C>G (n.*1317C>G)
c.1590C>G (p.Ser530Arg)
c.1650C>G (p.Ser550Arg)
n.1526C>G
c.1572C>G (p.Ser524Arg)
c.1842C>G (p.Ser614Arg)
c.1851C>G (p.Ser617Arg)
c.1197C>G (p.Ser399Arg)
c.1641C>G (p.Ser547Arg)
9g.135770385C>TCA467698533KCNT1c.1707C>T (p.Ser569=)
c.1548C>T (p.Ser516=)
c.1455C>T (p.Ser485=)
c.1464C>T (p.Ser488=)
c.1608C>T (p.Ser536=)
c.*1317C>T (n.*1317C>T)
c.1590C>T (p.Ser530=)
c.1650C>T (p.Ser550=)
n.1526C>T
c.1572C>T (p.Ser524=)
c.1842C>T (p.Ser614=)
c.1851C>T (p.Ser617=)
c.1197C>T (p.Ser399=)
c.1641C>T (p.Ser547=)
9g.135770386A>CCA375506624KCNT1c.1708A>C (p.Lys570Gln)
c.1549A>C (p.Lys517Gln)
c.1456A>C (p.Lys486Gln)
c.1465A>C (p.Lys489Gln)
c.1609A>C (p.Lys537Gln)
c.*1318A>C (n.*1318A>C)
c.1591A>C (p.Lys531Gln)
c.1651A>C (p.Lys551Gln)
n.1527A>C
c.1573A>C (p.Lys525Gln)
c.1843A>C (p.Lys615Gln)
c.1852A>C (p.Lys618Gln)
c.1198A>C (p.Lys400Gln)
c.1642A>C (p.Lys548Gln)
9g.135770386A>GCA375506628KCNT1c.1708A>G (p.Lys570Glu)
c.1549A>G (p.Lys517Glu)
c.1456A>G (p.Lys486Glu)
c.1465A>G (p.Lys489Glu)
c.1609A>G (p.Lys537Glu)
c.*1318A>G (n.*1318A>G)
c.1591A>G (p.Lys531Glu)
c.1651A>G (p.Lys551Glu)
n.1527A>G
c.1573A>G (p.Lys525Glu)
c.1843A>G (p.Lys615Glu)
c.1852A>G (p.Lys618Glu)
c.1198A>G (p.Lys400Glu)
c.1642A>G (p.Lys548Glu)
9g.135770386A>TCA375506629KCNT1c.1708A>T (p.Lys570Ter)
c.1549A>T (p.Lys517Ter)
c.1456A>T (p.Lys486Ter)
c.1465A>T (p.Lys489Ter)
c.1609A>T (p.Lys537Ter)
c.*1318A>T (n.*1318A>T)
c.1591A>T (p.Lys531Ter)
c.1651A>T (p.Lys551Ter)
n.1527A>T
c.1573A>T (p.Lys525Ter)
c.1843A>T (p.Lys615Ter)
c.1852A>T (p.Lys618Ter)
c.1198A>T (p.Lys400Ter)
c.1642A>T (p.Lys548Ter)
9g.135770387A=CA1883873505KCNT1c.1709A= (p.Lys570=)
c.1550A= (p.Lys517=)
c.1457A= (p.Lys486=)
c.1466A= (p.Lys489=)
c.1610A= (p.Lys537=)
c.*1319A= (n.*1319A=)
c.1592A= (p.Lys531=)
c.1652A= (p.Lys551=)
n.1528A=
c.1574A= (p.Lys525=)
c.1844A= (p.Lys615=)
c.1853A= (p.Lys618=)
c.1199A= (p.Lys400=)
c.1643A= (p.Lys548=)
9g.135770387A>CCA375506633KCNT1c.1709A>C (p.Lys570Thr)
c.1550A>C (p.Lys517Thr)
c.1457A>C (p.Lys486Thr)
c.1466A>C (p.Lys489Thr)
c.1610A>C (p.Lys537Thr)
c.*1319A>C (n.*1319A>C)
c.1592A>C (p.Lys531Thr)
c.1652A>C (p.Lys551Thr)
n.1528A>C
c.1574A>C (p.Lys525Thr)
c.1844A>C (p.Lys615Thr)
c.1853A>C (p.Lys618Thr)
c.1199A>C (p.Lys400Thr)
c.1643A>C (p.Lys548Thr)
9g.135770387A>GCA375506632KCNT1c.1709A>G (p.Lys570Arg)
c.1550A>G (p.Lys517Arg)
c.1457A>G (p.Lys486Arg)
c.1466A>G (p.Lys489Arg)
c.1610A>G (p.Lys537Arg)
c.*1319A>G (n.*1319A>G)
c.1592A>G (p.Lys531Arg)
c.1652A>G (p.Lys551Arg)
n.1528A>G
c.1574A>G (p.Lys525Arg)
c.1844A>G (p.Lys615Arg)
c.1853A>G (p.Lys618Arg)
c.1199A>G (p.Lys400Arg)
c.1643A>G (p.Lys548Arg)
 dbSNP
9g.135770387A>TCA375506631KCNT1c.1709A>T (p.Lys570Met)
c.1550A>T (p.Lys517Met)
c.1457A>T (p.Lys486Met)
c.1466A>T (p.Lys489Met)
c.1610A>T (p.Lys537Met)
c.*1319A>T (n.*1319A>T)
c.1592A>T (p.Lys531Met)
c.1652A>T (p.Lys551Met)
n.1528A>T
c.1574A>T (p.Lys525Met)
c.1844A>T (p.Lys615Met)
c.1853A>T (p.Lys618Met)
c.1199A>T (p.Lys400Met)
c.1643A>T (p.Lys548Met)
9g.135770388G>ACA467698534KCNT1c.1710G>A (p.Lys570=)
c.1551G>A (p.Lys517=)
c.1458G>A (p.Lys486=)
c.1467G>A (p.Lys489=)
c.1611G>A (p.Lys537=)
c.*1320G>A (n.*1320G>A)
c.1593G>A (p.Lys531=)
c.1653G>A (p.Lys551=)
n.1529G>A
c.1575G>A (p.Lys525=)
c.1845G>A (p.Lys615=)
c.1854G>A (p.Lys618=)
c.1200G>A (p.Lys400=)
c.1644G>A (p.Lys548=)
9g.135770388G>CCA375506634KCNT1c.1710G>C (p.Lys570Asn)
c.1551G>C (p.Lys517Asn)
c.1458G>C (p.Lys486Asn)
c.1467G>C (p.Lys489Asn)
c.1611G>C (p.Lys537Asn)
c.*1320G>C (n.*1320G>C)
c.1593G>C (p.Lys531Asn)
c.1653G>C (p.Lys551Asn)
n.1529G>C
c.1575G>C (p.Lys525Asn)
c.1845G>C (p.Lys615Asn)
c.1854G>C (p.Lys618Asn)
c.1200G>C (p.Lys400Asn)
c.1644G>C (p.Lys548Asn)
 gnomAD v4
9g.135770388G>TCA375506635KCNT1c.1710G>T (p.Lys570Asn)
c.1551G>T (p.Lys517Asn)
c.1458G>T (p.Lys486Asn)
c.1467G>T (p.Lys489Asn)
c.1611G>T (p.Lys537Asn)
c.*1320G>T (n.*1320G>T)
c.1593G>T (p.Lys531Asn)
c.1653G>T (p.Lys551Asn)
n.1529G>T
c.1575G>T (p.Lys525Asn)
c.1845G>T (p.Lys615Asn)
c.1854G>T (p.Lys618Asn)
c.1200G>T (p.Lys400Asn)
c.1644G>T (p.Lys548Asn)
9g.135770389T>ACA375506637KCNT1c.1711T>A (p.Phe571Ile)
c.1552T>A (p.Phe518Ile)
c.1459T>A (p.Phe487Ile)
c.1468T>A (p.Phe490Ile)
c.1612T>A (p.Phe538Ile)
c.*1321T>A (n.*1321T>A)
c.1594T>A (p.Phe532Ile)
c.1654T>A (p.Phe552Ile)
n.1530T>A
c.1576T>A (p.Phe526Ile)
c.1846T>A (p.Phe616Ile)
c.1855T>A (p.Phe619Ile)
c.1201T>A (p.Phe401Ile)
c.1645T>A (p.Phe549Ile)
9g.135770389T>CCA375506639KCNT1c.1711T>C (p.Phe571Leu)
c.1552T>C (p.Phe518Leu)
c.1459T>C (p.Phe487Leu)
c.1468T>C (p.Phe490Leu)
c.1612T>C (p.Phe538Leu)
c.*1321T>C (n.*1321T>C)
c.1594T>C (p.Phe532Leu)
c.1654T>C (p.Phe552Leu)
n.1530T>C
c.1576T>C (p.Phe526Leu)
c.1846T>C (p.Phe616Leu)
c.1855T>C (p.Phe619Leu)
c.1201T>C (p.Phe401Leu)
c.1645T>C (p.Phe549Leu)
9g.135770389T>GCA375506641KCNT1c.1711T>G (p.Phe571Val)
c.1552T>G (p.Phe518Val)
c.1459T>G (p.Phe487Val)
c.1468T>G (p.Phe490Val)
c.1612T>G (p.Phe538Val)
c.*1321T>G (n.*1321T>G)
c.1594T>G (p.Phe532Val)
c.1654T>G (p.Phe552Val)
n.1530T>G
c.1576T>G (p.Phe526Val)
c.1846T>G (p.Phe616Val)
c.1855T>G (p.Phe619Val)
c.1201T>G (p.Phe401Val)
c.1645T>G (p.Phe549Val)
9g.135770390T>ACA375506644KCNT1c.1712T>A (p.Phe571Tyr)
c.1553T>A (p.Phe518Tyr)
c.1460T>A (p.Phe487Tyr)
c.1469T>A (p.Phe490Tyr)
c.1613T>A (p.Phe538Tyr)
c.*1322T>A (n.*1322T>A)
c.1595T>A (p.Phe532Tyr)
c.1655T>A (p.Phe552Tyr)
n.1531T>A
c.1577T>A (p.Phe526Tyr)
c.1847T>A (p.Phe616Tyr)
c.1856T>A (p.Phe619Tyr)
c.1202T>A (p.Phe401Tyr)
c.1646T>A (p.Phe549Tyr)
9g.135770390T>CCA375506646KCNT1c.1712T>C (p.Phe571Ser)
c.1553T>C (p.Phe518Ser)
c.1460T>C (p.Phe487Ser)
c.1469T>C (p.Phe490Ser)
c.1613T>C (p.Phe538Ser)
c.*1322T>C (n.*1322T>C)
c.1595T>C (p.Phe532Ser)
c.1655T>C (p.Phe552Ser)
n.1531T>C
c.1577T>C (p.Phe526Ser)
c.1847T>C (p.Phe616Ser)
c.1856T>C (p.Phe619Ser)
c.1202T>C (p.Phe401Ser)
c.1646T>C (p.Phe549Ser)
9g.135770390T>GCA375506648KCNT1c.1712T>G (p.Phe571Cys)
c.1553T>G (p.Phe518Cys)
c.1460T>G (p.Phe487Cys)
c.1469T>G (p.Phe490Cys)
c.1613T>G (p.Phe538Cys)
c.*1322T>G (n.*1322T>G)
c.1595T>G (p.Phe532Cys)
c.1655T>G (p.Phe552Cys)
n.1531T>G
c.1577T>G (p.Phe526Cys)
c.1847T>G (p.Phe616Cys)
c.1856T>G (p.Phe619Cys)
c.1202T>G (p.Phe401Cys)
c.1646T>G (p.Phe549Cys)
9g.135770391C>ACA375506650KCNT1c.1713C>A (p.Phe571Leu)
c.1554C>A (p.Phe518Leu)
c.1461C>A (p.Phe487Leu)
c.1470C>A (p.Phe490Leu)
c.1614C>A (p.Phe538Leu)
c.*1323C>A (n.*1323C>A)
c.1596C>A (p.Phe532Leu)
c.1656C>A (p.Phe552Leu)
n.1532C>A
c.1578C>A (p.Phe526Leu)
c.1848C>A (p.Phe616Leu)
c.1857C>A (p.Phe619Leu)
c.1203C>A (p.Phe401Leu)
c.1647C>A (p.Phe549Leu)
9g.135770391C=CA1883873510KCNT1c.1713C= (p.Phe571=)
c.1554C= (p.Phe518=)
c.1461C= (p.Phe487=)
c.1470C= (p.Phe490=)
c.1614C= (p.Phe538=)
c.*1323C= (n.*1323C=)
c.1596C= (p.Phe532=)
c.1656C= (p.Phe552=)
n.1532C=
c.1578C= (p.Phe526=)
c.1848C= (p.Phe616=)
c.1857C= (p.Phe619=)
c.1203C= (p.Phe401=)
c.1647C= (p.Phe549=)
9g.135770391C>GCA375506652KCNT1c.1713C>G (p.Phe571Leu)
c.1554C>G (p.Phe518Leu)
c.1461C>G (p.Phe487Leu)
c.1470C>G (p.Phe490Leu)
c.1614C>G (p.Phe538Leu)
c.*1323C>G (n.*1323C>G)
c.1596C>G (p.Phe532Leu)
c.1656C>G (p.Phe552Leu)
n.1532C>G
c.1578C>G (p.Phe526Leu)
c.1848C>G (p.Phe616Leu)
c.1857C>G (p.Phe619Leu)
c.1203C>G (p.Phe401Leu)
c.1647C>G (p.Phe549Leu)
9g.135770391C>TCA5327037KCNT1c.1713C>T (p.Phe571=)
c.1554C>T (p.Phe518=)
c.1461C>T (p.Phe487=)
c.1470C>T (p.Phe490=)
c.1614C>T (p.Phe538=)
c.*1323C>T (n.*1323C>T)
c.1596C>T (p.Phe532=)
c.1656C>T (p.Phe552=)
n.1532C>T
c.1578C>T (p.Phe526=)
c.1848C>T (p.Phe616=)
c.1857C>T (p.Phe619=)
c.1203C>T (p.Phe401=)
c.1647C>T (p.Phe549=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770392T>ACA375506658KCNT1c.1714T>A (p.Phe572Ile)
c.1555T>A (p.Phe519Ile)
c.1462T>A (p.Phe488Ile)
c.1471T>A (p.Phe491Ile)
c.1615T>A (p.Phe539Ile)
c.*1324T>A (n.*1324T>A)
c.1597T>A (p.Phe533Ile)
c.1657T>A (p.Phe553Ile)
n.1533T>A
c.1579T>A (p.Phe527Ile)
c.1849T>A (p.Phe617Ile)
c.1858T>A (p.Phe620Ile)
c.1204T>A (p.Phe402Ile)
c.1648T>A (p.Phe550Ile)
9g.135770392T>CCA5327038KCNT1c.1714T>C (p.Phe572Leu)
c.1555T>C (p.Phe519Leu)
c.1462T>C (p.Phe488Leu)
c.1471T>C (p.Phe491Leu)
c.1615T>C (p.Phe539Leu)
c.*1324T>C (n.*1324T>C)
c.1597T>C (p.Phe533Leu)
c.1657T>C (p.Phe553Leu)
n.1533T>C
c.1579T>C (p.Phe527Leu)
c.1849T>C (p.Phe617Leu)
c.1858T>C (p.Phe620Leu)
c.1204T>C (p.Phe402Leu)
c.1648T>C (p.Phe550Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770392T>GCA375506656KCNT1c.1714T>G (p.Phe572Val)
c.1555T>G (p.Phe519Val)
c.1462T>G (p.Phe488Val)
c.1471T>G (p.Phe491Val)
c.1615T>G (p.Phe539Val)
c.*1324T>G (n.*1324T>G)
c.1597T>G (p.Phe533Val)
c.1657T>G (p.Phe553Val)
n.1533T>G
c.1579T>G (p.Phe527Val)
c.1849T>G (p.Phe617Val)
c.1858T>G (p.Phe620Val)
c.1204T>G (p.Phe402Val)
c.1648T>G (p.Phe550Val)
9g.135770392T=CA1883873514KCNT1c.1714T= (p.Phe572=)
c.1555T= (p.Phe519=)
c.1462T= (p.Phe488=)
c.1471T= (p.Phe491=)
c.1615T= (p.Phe539=)
c.*1324T= (n.*1324T=)
c.1597T= (p.Phe533=)
c.1657T= (p.Phe553=)
n.1533T=
c.1579T= (p.Phe527=)
c.1849T= (p.Phe617=)
c.1858T= (p.Phe620=)
c.1204T= (p.Phe402=)
c.1648T= (p.Phe550=)
9g.135770393T>ACA375506661KCNT1c.1715T>A (p.Phe572Tyr)
c.1556T>A (p.Phe519Tyr)
c.1463T>A (p.Phe488Tyr)
c.1472T>A (p.Phe491Tyr)
c.1616T>A (p.Phe539Tyr)
c.*1325T>A (n.*1325T>A)
c.1598T>A (p.Phe533Tyr)
c.1658T>A (p.Phe553Tyr)
n.1534T>A
c.1580T>A (p.Phe527Tyr)
c.1850T>A (p.Phe617Tyr)
c.1859T>A (p.Phe620Tyr)
c.1205T>A (p.Phe402Tyr)
c.1649T>A (p.Phe550Tyr)
9g.135770393T>CCA375506663KCNT1c.1715T>C (p.Phe572Ser)
c.1556T>C (p.Phe519Ser)
c.1463T>C (p.Phe488Ser)
c.1472T>C (p.Phe491Ser)
c.1616T>C (p.Phe539Ser)
c.*1325T>C (n.*1325T>C)
c.1598T>C (p.Phe533Ser)
c.1658T>C (p.Phe553Ser)
n.1534T>C
c.1580T>C (p.Phe527Ser)
c.1850T>C (p.Phe617Ser)
c.1859T>C (p.Phe620Ser)
c.1205T>C (p.Phe402Ser)
c.1649T>C (p.Phe550Ser)
9g.135770393T>GCA375506664KCNT1c.1715T>G (p.Phe572Cys)
c.1556T>G (p.Phe519Cys)
c.1463T>G (p.Phe488Cys)
c.1472T>G (p.Phe491Cys)
c.1616T>G (p.Phe539Cys)
c.*1325T>G (n.*1325T>G)
c.1598T>G (p.Phe533Cys)
c.1658T>G (p.Phe553Cys)
n.1534T>G
c.1580T>G (p.Phe527Cys)
c.1850T>G (p.Phe617Cys)
c.1859T>G (p.Phe620Cys)
c.1205T>G (p.Phe402Cys)
c.1649T>G (p.Phe550Cys)
9g.135770394C>ACA375506666KCNT1c.1716C>A (p.Phe572Leu)
c.1557C>A (p.Phe519Leu)
c.1464C>A (p.Phe488Leu)
c.1473C>A (p.Phe491Leu)
c.1617C>A (p.Phe539Leu)
c.*1326C>A (n.*1326C>A)
c.1599C>A (p.Phe533Leu)
c.1659C>A (p.Phe553Leu)
n.1535C>A
c.1581C>A (p.Phe527Leu)
c.1851C>A (p.Phe617Leu)
c.1860C>A (p.Phe620Leu)
c.1206C>A (p.Phe402Leu)
c.1650C>A (p.Phe550Leu)
9g.135770394C>GCA375506668KCNT1c.1716C>G (p.Phe572Leu)
c.1557C>G (p.Phe519Leu)
c.1464C>G (p.Phe488Leu)
c.1473C>G (p.Phe491Leu)
c.1617C>G (p.Phe539Leu)
c.*1326C>G (n.*1326C>G)
c.1599C>G (p.Phe533Leu)
c.1659C>G (p.Phe553Leu)
n.1535C>G
c.1581C>G (p.Phe527Leu)
c.1851C>G (p.Phe617Leu)
c.1860C>G (p.Phe620Leu)
c.1206C>G (p.Phe402Leu)
c.1650C>G (p.Phe550Leu)
9g.135770394C>TCA467698537KCNT1c.1716C>T (p.Phe572=)
c.1557C>T (p.Phe519=)
c.1464C>T (p.Phe488=)
c.1473C>T (p.Phe491=)
c.1617C>T (p.Phe539=)
c.*1326C>T (n.*1326C>T)
c.1599C>T (p.Phe533=)
c.1659C>T (p.Phe553=)
n.1535C>T
c.1581C>T (p.Phe527=)
c.1851C>T (p.Phe617=)
c.1860C>T (p.Phe620=)
c.1206C>T (p.Phe402=)
c.1650C>T (p.Phe550=)
 gnomAD v4
9g.135770395C>ACA375506669KCNT1c.1717C>A (p.Arg573Ser)
c.1558C>A (p.Arg520Ser)
c.1465C>A (p.Arg489Ser)
c.1474C>A (p.Arg492Ser)
c.1618C>A (p.Arg540Ser)
c.*1327C>A (n.*1327C>A)
c.1600C>A (p.Arg534Ser)
c.1660C>A (p.Arg554Ser)
n.1536C>A
c.1582C>A (p.Arg528Ser)
c.1852C>A (p.Arg618Ser)
c.1861C>A (p.Arg621Ser)
c.1207C>A (p.Arg403Ser)
c.1651C>A (p.Arg551Ser)
 gnomAD v4
9g.135770395C=CA1883873519KCNT1c.1717C= (p.Arg573=)
c.1558C= (p.Arg520=)
c.1465C= (p.Arg489=)
c.1474C= (p.Arg492=)
c.1618C= (p.Arg540=)
c.*1327C= (n.*1327C=)
c.1600C= (p.Arg534=)
c.1660C= (p.Arg554=)
n.1536C=
c.1582C= (p.Arg528=)
c.1852C= (p.Arg618=)
c.1861C= (p.Arg621=)
c.1207C= (p.Arg403=)
c.1651C= (p.Arg551=)
9g.135770395C>GCA375506671KCNT1c.1717C>G (p.Arg573Gly)
c.1558C>G (p.Arg520Gly)
c.1465C>G (p.Arg489Gly)
c.1474C>G (p.Arg492Gly)
c.1618C>G (p.Arg540Gly)
c.*1327C>G (n.*1327C>G)
c.1600C>G (p.Arg534Gly)
c.1660C>G (p.Arg554Gly)
n.1536C>G
c.1582C>G (p.Arg528Gly)
c.1852C>G (p.Arg618Gly)
c.1861C>G (p.Arg621Gly)
c.1207C>G (p.Arg403Gly)
c.1651C>G (p.Arg551Gly)
 gnomAD v4
9g.135770395C>TCA5327039KCNT1c.1717C>T (p.Arg573Cys)
c.1558C>T (p.Arg520Cys)
c.1465C>T (p.Arg489Cys)
c.1474C>T (p.Arg492Cys)
c.1618C>T (p.Arg540Cys)
c.*1327C>T (n.*1327C>T)
c.1600C>T (p.Arg534Cys)
c.1660C>T (p.Arg554Cys)
n.1536C>T
c.1582C>T (p.Arg528Cys)
c.1852C>T (p.Arg618Cys)
c.1861C>T (p.Arg621Cys)
c.1207C>T (p.Arg403Cys)
c.1651C>T (p.Arg551Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770396G>ACA5327040KCNT1c.1718G>A (p.Arg573His)
c.1559G>A (p.Arg520His)
c.1466G>A (p.Arg489His)
c.1475G>A (p.Arg492His)
c.1619G>A (p.Arg540His)
c.*1328G>A (n.*1328G>A)
c.1601G>A (p.Arg534His)
c.1661G>A (p.Arg554His)
n.1537G>A
c.1583G>A (p.Arg528His)
c.1853G>A (p.Arg618His)
c.1862G>A (p.Arg621His)
c.1208G>A (p.Arg403His)
c.1652G>A (p.Arg551His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770396G>CCA375506675KCNT1c.1718G>C (p.Arg573Pro)
c.1559G>C (p.Arg520Pro)
c.1466G>C (p.Arg489Pro)
c.1475G>C (p.Arg492Pro)
c.1619G>C (p.Arg540Pro)
c.*1328G>C (n.*1328G>C)
c.1601G>C (p.Arg534Pro)
c.1661G>C (p.Arg554Pro)
n.1537G>C
c.1583G>C (p.Arg528Pro)
c.1853G>C (p.Arg618Pro)
c.1862G>C (p.Arg621Pro)
c.1208G>C (p.Arg403Pro)
c.1652G>C (p.Arg551Pro)
9g.135770396G=CA1883873523KCNT1c.1718G= (p.Arg573=)
c.1559G= (p.Arg520=)
c.1466G= (p.Arg489=)
c.1475G= (p.Arg492=)
c.1619G= (p.Arg540=)
c.*1328G= (n.*1328G=)
c.1601G= (p.Arg534=)
c.1661G= (p.Arg554=)
n.1537G=
c.1583G= (p.Arg528=)
c.1853G= (p.Arg618=)
c.1862G= (p.Arg621=)
c.1208G= (p.Arg403=)
c.1652G= (p.Arg551=)
9g.135770396G>TCA375506676KCNT1c.1718G>T (p.Arg573Leu)
c.1559G>T (p.Arg520Leu)
c.1466G>T (p.Arg489Leu)
c.1475G>T (p.Arg492Leu)
c.1619G>T (p.Arg540Leu)
c.*1328G>T (n.*1328G>T)
c.1601G>T (p.Arg534Leu)
c.1661G>T (p.Arg554Leu)
n.1537G>T
c.1583G>T (p.Arg528Leu)
c.1853G>T (p.Arg618Leu)
c.1862G>T (p.Arg621Leu)
c.1208G>T (p.Arg403Leu)
c.1652G>T (p.Arg551Leu)
9g.135770397C>ACA467698541KCNT1c.1719C>A (p.Arg573=)
c.1560C>A (p.Arg520=)
c.1467C>A (p.Arg489=)
c.1476C>A (p.Arg492=)
c.1620C>A (p.Arg540=)
c.*1329C>A (n.*1329C>A)
c.1602C>A (p.Arg534=)
c.1662C>A (p.Arg554=)
n.1538C>A
c.1584C>A (p.Arg528=)
c.1854C>A (p.Arg618=)
c.1863C>A (p.Arg621=)
c.1209C>A (p.Arg403=)
c.1653C>A (p.Arg551=)
 dbSNP gnomAD v2 gnomAD v4
9g.135770397C=CA1883873533KCNT1c.1719C= (p.Arg573=)
c.1560C= (p.Arg520=)
c.1467C= (p.Arg489=)
c.1476C= (p.Arg492=)
c.1620C= (p.Arg540=)
c.*1329C= (n.*1329C=)
c.1602C= (p.Arg534=)
c.1662C= (p.Arg554=)
n.1538C=
c.1584C= (p.Arg528=)
c.1854C= (p.Arg618=)
c.1863C= (p.Arg621=)
c.1209C= (p.Arg403=)
c.1653C= (p.Arg551=)
9g.135770397C>GCA467698542KCNT1c.1719C>G (p.Arg573=)
c.1560C>G (p.Arg520=)
c.1467C>G (p.Arg489=)
c.1476C>G (p.Arg492=)
c.1620C>G (p.Arg540=)
c.*1329C>G (n.*1329C>G)
c.1602C>G (p.Arg534=)
c.1662C>G (p.Arg554=)
n.1538C>G
c.1584C>G (p.Arg528=)
c.1854C>G (p.Arg618=)
c.1863C>G (p.Arg621=)
c.1209C>G (p.Arg403=)
c.1653C>G (p.Arg551=)
9g.135770397C>TCA467698543KCNT1c.1719C>T (p.Arg573=)
c.1560C>T (p.Arg520=)
c.1467C>T (p.Arg489=)
c.1476C>T (p.Arg492=)
c.1620C>T (p.Arg540=)
c.*1329C>T (n.*1329C>T)
c.1602C>T (p.Arg534=)
c.1662C>T (p.Arg554=)
n.1538C>T
c.1584C>T (p.Arg528=)
c.1854C>T (p.Arg618=)
c.1863C>T (p.Arg621=)
c.1209C>T (p.Arg403=)
c.1653C>T (p.Arg551=)
 ClinVar gnomAD v4
9g.135770397_135770398delinsCGCA1883873532KCNT1c.1719_1720delinsCG (p.Arg573=)
c.1560_1561delinsCG (p.Arg520=)
c.1467_1468delinsCG (p.Arg489=)
c.1476_1477delinsCG (p.Arg492=)
c.1620_1621delinsCG (p.Arg540=)
c.*1329_*1330delinsCG (n.*1329_*1330delinsCG)
c.1602_1603delinsCG (p.Arg534=)
c.1662_1663delinsCG (p.Arg554=)
n.1538_1539delinsCG
c.1584_1585delinsCG (p.Arg528=)
c.1854_1855delinsCG (p.Arg618=)
c.1863_1864delinsCG (p.Arg621=)
c.1209_1210delinsCG (p.Arg403=)
c.1653_1654delinsCG (p.Arg551=)
9g.135770398delCA645369462KCNT1c.1720del (p.Glu574SerfsTer25)
c.1561del (p.Glu521SerfsTer25)
c.1468del (p.Glu490SerfsTer25)
c.1477del (p.Glu493SerfsTer25)
c.1621del (p.Glu541SerfsTer25)
c.*1330del (n.*1330del)
c.1603del (p.Glu535SerfsTer25)
c.1663del (p.Glu555SerfsTer25)
n.1539del
c.1585del (p.Glu529SerfsTer25)
c.1855del (p.Glu619SerfsTer25)
c.1864del (p.Glu622SerfsTer25)
c.1210del (p.Glu404SerfsTer25)
c.1654del (p.Glu552SerfsTer25)
 ClinVar dbSNP
9g.135770398G>ACA375506680KCNT1c.1720G>A (p.Glu574Lys)
c.1561G>A (p.Glu521Lys)
c.1468G>A (p.Glu490Lys)
c.1477G>A (p.Glu493Lys)
c.1621G>A (p.Glu541Lys)
c.*1330G>A (n.*1330G>A)
c.1603G>A (p.Glu535Lys)
c.1663G>A (p.Glu555Lys)
n.1539G>A
c.1585G>A (p.Glu529Lys)
c.1855G>A (p.Glu619Lys)
c.1864G>A (p.Glu622Lys)
c.1210G>A (p.Glu404Lys)
c.1654G>A (p.Glu552Lys)
 gnomAD v4
9g.135770398G>CCA375506681KCNT1c.1720G>C (p.Glu574Gln)
c.1561G>C (p.Glu521Gln)
c.1468G>C (p.Glu490Gln)
c.1477G>C (p.Glu493Gln)
c.1621G>C (p.Glu541Gln)
c.*1330G>C (n.*1330G>C)
c.1603G>C (p.Glu535Gln)
c.1663G>C (p.Glu555Gln)
n.1539G>C
c.1585G>C (p.Glu529Gln)
c.1855G>C (p.Glu619Gln)
c.1864G>C (p.Glu622Gln)
c.1210G>C (p.Glu404Gln)
c.1654G>C (p.Glu552Gln)
9g.135770398G>TCA375506679KCNT1c.1720G>T (p.Glu574Ter)
c.1561G>T (p.Glu521Ter)
c.1468G>T (p.Glu490Ter)
c.1477G>T (p.Glu493Ter)
c.1621G>T (p.Glu541Ter)
c.*1330G>T (n.*1330G>T)
c.1603G>T (p.Glu535Ter)
c.1663G>T (p.Glu555Ter)
n.1539G>T
c.1585G>T (p.Glu529Ter)
c.1855G>T (p.Glu619Ter)
c.1864G>T (p.Glu622Ter)
c.1210G>T (p.Glu404Ter)
c.1654G>T (p.Glu552Ter)
9g.135770399A>CCA375506685KCNT1c.1721A>C (p.Glu574Ala)
c.1562A>C (p.Glu521Ala)
c.1469A>C (p.Glu490Ala)
c.1478A>C (p.Glu493Ala)
c.1622A>C (p.Glu541Ala)
c.*1331A>C (n.*1331A>C)
c.1604A>C (p.Glu535Ala)
c.1664A>C (p.Glu555Ala)
n.1540A>C
c.1586A>C (p.Glu529Ala)
c.1856A>C (p.Glu619Ala)
c.1865A>C (p.Glu622Ala)
c.1211A>C (p.Glu404Ala)
c.1655A>C (p.Glu552Ala)
9g.135770399A>GCA375506682KCNT1c.1721A>G (p.Glu574Gly)
c.1562A>G (p.Glu521Gly)
c.1469A>G (p.Glu490Gly)
c.1478A>G (p.Glu493Gly)
c.1622A>G (p.Glu541Gly)
c.*1331A>G (n.*1331A>G)
c.1604A>G (p.Glu535Gly)
c.1664A>G (p.Glu555Gly)
n.1540A>G
c.1586A>G (p.Glu529Gly)
c.1856A>G (p.Glu619Gly)
c.1865A>G (p.Glu622Gly)
c.1211A>G (p.Glu404Gly)
c.1655A>G (p.Glu552Gly)
9g.135770399A>TCA375506684KCNT1c.1721A>T (p.Glu574Val)
c.1562A>T (p.Glu521Val)
c.1469A>T (p.Glu490Val)
c.1478A>T (p.Glu493Val)
c.1622A>T (p.Glu541Val)
c.*1331A>T (n.*1331A>T)
c.1604A>T (p.Glu535Val)
c.1664A>T (p.Glu555Val)
n.1540A>T
c.1586A>T (p.Glu529Val)
c.1856A>T (p.Glu619Val)
c.1865A>T (p.Glu622Val)
c.1211A>T (p.Glu404Val)
c.1655A>T (p.Glu552Val)
9g.135770400G>ACA467698546KCNT1c.1722G>A (p.Glu574=)
c.1563G>A (p.Glu521=)
c.1470G>A (p.Glu490=)
c.1479G>A (p.Glu493=)
c.1623G>A (p.Glu541=)
c.*1332G>A (n.*1332G>A)
c.1605G>A (p.Glu535=)
c.1665G>A (p.Glu555=)
n.1541G>A
c.1587G>A (p.Glu529=)
c.1857G>A (p.Glu619=)
c.1866G>A (p.Glu622=)
c.1212G>A (p.Glu404=)
c.1656G>A (p.Glu552=)
9g.135770400G>CCA375506687KCNT1c.1722G>C (p.Glu574Asp)
c.1563G>C (p.Glu521Asp)
c.1470G>C (p.Glu490Asp)
c.1479G>C (p.Glu493Asp)
c.1623G>C (p.Glu541Asp)
c.*1332G>C (n.*1332G>C)
c.1605G>C (p.Glu535Asp)
c.1665G>C (p.Glu555Asp)
n.1541G>C
c.1587G>C (p.Glu529Asp)
c.1857G>C (p.Glu619Asp)
c.1866G>C (p.Glu622Asp)
c.1212G>C (p.Glu404Asp)
c.1656G>C (p.Glu552Asp)
9g.135770400G>TCA375506689KCNT1c.1722G>T (p.Glu574Asp)
c.1563G>T (p.Glu521Asp)
c.1470G>T (p.Glu490Asp)
c.1479G>T (p.Glu493Asp)
c.1623G>T (p.Glu541Asp)
c.*1332G>T (n.*1332G>T)
c.1605G>T (p.Glu535Asp)
c.1665G>T (p.Glu555Asp)
n.1541G>T
c.1587G>T (p.Glu529Asp)
c.1857G>T (p.Glu619Asp)
c.1866G>T (p.Glu622Asp)
c.1212G>T (p.Glu404Asp)
c.1656G>T (p.Glu552Asp)
9g.135770401T>ACA375506692KCNT1c.1723T>A (p.Tyr575Asn)
c.1564T>A (p.Tyr522Asn)
c.1471T>A (p.Tyr491Asn)
c.1480T>A (p.Tyr494Asn)
c.1624T>A (p.Tyr542Asn)
c.*1333T>A (n.*1333T>A)
c.1606T>A (p.Tyr536Asn)
c.1666T>A (p.Tyr556Asn)
n.1542T>A
c.1588T>A (p.Tyr530Asn)
c.1858T>A (p.Tyr620Asn)
c.1867T>A (p.Tyr623Asn)
c.1213T>A (p.Tyr405Asn)
c.1657T>A (p.Tyr553Asn)
9g.135770401T>CCA375506693KCNT1c.1723T>C (p.Tyr575His)
c.1564T>C (p.Tyr522His)
c.1471T>C (p.Tyr491His)
c.1480T>C (p.Tyr494His)
c.1624T>C (p.Tyr542His)
c.*1333T>C (n.*1333T>C)
c.1606T>C (p.Tyr536His)
c.1666T>C (p.Tyr556His)
n.1542T>C
c.1588T>C (p.Tyr530His)
c.1858T>C (p.Tyr620His)
c.1867T>C (p.Tyr623His)
c.1213T>C (p.Tyr405His)
c.1657T>C (p.Tyr553His)
9g.135770401T>GCA375506694KCNT1c.1723T>G (p.Tyr575Asp)
c.1564T>G (p.Tyr522Asp)
c.1471T>G (p.Tyr491Asp)
c.1480T>G (p.Tyr494Asp)
c.1624T>G (p.Tyr542Asp)
c.*1333T>G (n.*1333T>G)
c.1606T>G (p.Tyr536Asp)
c.1666T>G (p.Tyr556Asp)
n.1542T>G
c.1588T>G (p.Tyr530Asp)
c.1858T>G (p.Tyr620Asp)
c.1867T>G (p.Tyr623Asp)
c.1213T>G (p.Tyr405Asp)
c.1657T>G (p.Tyr553Asp)
9g.135770402A>CCA375506695KCNT1c.1724A>C (p.Tyr575Ser)
c.1565A>C (p.Tyr522Ser)
c.1472A>C (p.Tyr491Ser)
c.1481A>C (p.Tyr494Ser)
c.1625A>C (p.Tyr542Ser)
c.*1334A>C (n.*1334A>C)
c.1607A>C (p.Tyr536Ser)
c.1667A>C (p.Tyr556Ser)
n.1543A>C
c.1589A>C (p.Tyr530Ser)
c.1859A>C (p.Tyr620Ser)
c.1868A>C (p.Tyr623Ser)
c.1214A>C (p.Tyr405Ser)
c.1658A>C (p.Tyr553Ser)
9g.135770402A>GCA375506697KCNT1c.1724A>G (p.Tyr575Cys)
c.1565A>G (p.Tyr522Cys)
c.1472A>G (p.Tyr491Cys)
c.1481A>G (p.Tyr494Cys)
c.1625A>G (p.Tyr542Cys)
c.*1334A>G (n.*1334A>G)
c.1607A>G (p.Tyr536Cys)
c.1667A>G (p.Tyr556Cys)
n.1543A>G
c.1589A>G (p.Tyr530Cys)
c.1859A>G (p.Tyr620Cys)
c.1868A>G (p.Tyr623Cys)
c.1214A>G (p.Tyr405Cys)
c.1658A>G (p.Tyr553Cys)
 gnomAD v4
9g.135770402A>TCA375506699KCNT1c.1724A>T (p.Tyr575Phe)
c.1565A>T (p.Tyr522Phe)
c.1472A>T (p.Tyr491Phe)
c.1481A>T (p.Tyr494Phe)
c.1625A>T (p.Tyr542Phe)
c.*1334A>T (n.*1334A>T)
c.1607A>T (p.Tyr536Phe)
c.1667A>T (p.Tyr556Phe)
n.1543A>T
c.1589A>T (p.Tyr530Phe)
c.1859A>T (p.Tyr620Phe)
c.1868A>T (p.Tyr623Phe)
c.1214A>T (p.Tyr405Phe)
c.1658A>T (p.Tyr553Phe)
9g.135770403C>ACA375506702KCNT1c.1725C>A (p.Tyr575Ter)
c.1566C>A (p.Tyr522Ter)
c.1473C>A (p.Tyr491Ter)
c.1482C>A (p.Tyr494Ter)
c.1626C>A (p.Tyr542Ter)
c.*1335C>A (n.*1335C>A)
c.1608C>A (p.Tyr536Ter)
c.1668C>A (p.Tyr556Ter)
n.1544C>A
c.1590C>A (p.Tyr530Ter)
c.1860C>A (p.Tyr620Ter)
c.1869C>A (p.Tyr623Ter)
c.1215C>A (p.Tyr405Ter)
c.1659C>A (p.Tyr553Ter)
9g.135770403C=CA1883873544KCNT1c.1725C= (p.Tyr575=)
c.1566C= (p.Tyr522=)
c.1473C= (p.Tyr491=)
c.1482C= (p.Tyr494=)
c.1626C= (p.Tyr542=)
c.*1335C= (n.*1335C=)
c.1608C= (p.Tyr536=)
c.1668C= (p.Tyr556=)
n.1544C=
c.1590C= (p.Tyr530=)
c.1860C= (p.Tyr620=)
c.1869C= (p.Tyr623=)
c.1215C= (p.Tyr405=)
c.1659C= (p.Tyr553=)
9g.135770403C>GCA375506704KCNT1c.1725C>G (p.Tyr575Ter)
c.1566C>G (p.Tyr522Ter)
c.1473C>G (p.Tyr491Ter)
c.1482C>G (p.Tyr494Ter)
c.1626C>G (p.Tyr542Ter)
c.*1335C>G (n.*1335C>G)
c.1608C>G (p.Tyr536Ter)
c.1668C>G (p.Tyr556Ter)
n.1544C>G
c.1590C>G (p.Tyr530Ter)
c.1860C>G (p.Tyr620Ter)
c.1869C>G (p.Tyr623Ter)
c.1215C>G (p.Tyr405Ter)
c.1659C>G (p.Tyr553Ter)
 gnomAD v4
9g.135770403C>TCA5327041KCNT1c.1725C>T (p.Tyr575=)
c.1566C>T (p.Tyr522=)
c.1473C>T (p.Tyr491=)
c.1482C>T (p.Tyr494=)
c.1626C>T (p.Tyr542=)
c.*1335C>T (n.*1335C>T)
c.1608C>T (p.Tyr536=)
c.1668C>T (p.Tyr556=)
n.1544C>T
c.1590C>T (p.Tyr530=)
c.1860C>T (p.Tyr620=)
c.1869C>T (p.Tyr623=)
c.1215C>T (p.Tyr405=)
c.1659C>T (p.Tyr553=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770404G>ACA240952KCNT1c.1726G>A (p.Glu576Lys)
c.1567G>A (p.Glu523Lys)
c.1474G>A (p.Glu492Lys)
c.1483G>A (p.Glu495Lys)
c.1627G>A (p.Glu543Lys)
c.*1336G>A (n.*1336G>A)
c.1609G>A (p.Glu537Lys)
c.1669G>A (p.Glu557Lys)
n.1545G>A
c.1591G>A (p.Glu531Lys)
c.1861G>A (p.Glu621Lys)
c.1870G>A (p.Glu624Lys)
c.1216G>A (p.Glu406Lys)
c.1660G>A (p.Glu554Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770404G>CCA375506707KCNT1c.1726G>C (p.Glu576Gln)
c.1567G>C (p.Glu523Gln)
c.1474G>C (p.Glu492Gln)
c.1483G>C (p.Glu495Gln)
c.1627G>C (p.Glu543Gln)
c.*1336G>C (n.*1336G>C)
c.1609G>C (p.Glu537Gln)
c.1669G>C (p.Glu557Gln)
n.1545G>C
c.1591G>C (p.Glu531Gln)
c.1861G>C (p.Glu621Gln)
c.1870G>C (p.Glu624Gln)
c.1216G>C (p.Glu406Gln)
c.1660G>C (p.Glu554Gln)
9g.135770404G=CA1883873552KCNT1c.1726G= (p.Glu576=)
c.1567G= (p.Glu523=)
c.1474G= (p.Glu492=)
c.1483G= (p.Glu495=)
c.1627G= (p.Glu543=)
c.*1336G= (n.*1336G=)
c.1609G= (p.Glu537=)
c.1669G= (p.Glu557=)
n.1545G=
c.1591G= (p.Glu531=)
c.1861G= (p.Glu621=)
c.1870G= (p.Glu624=)
c.1216G= (p.Glu406=)
c.1660G= (p.Glu554=)
9g.135770404G>TCA375506709KCNT1c.1726G>T (p.Glu576Ter)
c.1567G>T (p.Glu523Ter)
c.1474G>T (p.Glu492Ter)
c.1483G>T (p.Glu495Ter)
c.1627G>T (p.Glu543Ter)
c.*1336G>T (n.*1336G>T)
c.1609G>T (p.Glu537Ter)
c.1669G>T (p.Glu557Ter)
n.1545G>T
c.1591G>T (p.Glu531Ter)
c.1861G>T (p.Glu621Ter)
c.1870G>T (p.Glu624Ter)
c.1216G>T (p.Glu406Ter)
c.1660G>T (p.Glu554Ter)
9g.135770405A>CCA375506712KCNT1c.1727A>C (p.Glu576Ala)
c.1568A>C (p.Glu523Ala)
c.1475A>C (p.Glu492Ala)
c.1484A>C (p.Glu495Ala)
c.1628A>C (p.Glu543Ala)
c.*1337A>C (n.*1337A>C)
c.1610A>C (p.Glu537Ala)
c.1670A>C (p.Glu557Ala)
n.1546A>C
c.1592A>C (p.Glu531Ala)
c.1862A>C (p.Glu621Ala)
c.1871A>C (p.Glu624Ala)
c.1217A>C (p.Glu406Ala)
c.1661A>C (p.Glu554Ala)
9g.135770405A>GCA375506714KCNT1c.1727A>G (p.Glu576Gly)
c.1568A>G (p.Glu523Gly)
c.1475A>G (p.Glu492Gly)
c.1484A>G (p.Glu495Gly)
c.1628A>G (p.Glu543Gly)
c.*1337A>G (n.*1337A>G)
c.1610A>G (p.Glu537Gly)
c.1670A>G (p.Glu557Gly)
n.1546A>G
c.1592A>G (p.Glu531Gly)
c.1862A>G (p.Glu621Gly)
c.1871A>G (p.Glu624Gly)
c.1217A>G (p.Glu406Gly)
c.1661A>G (p.Glu554Gly)
9g.135770405A>TCA375506716KCNT1c.1727A>T (p.Glu576Val)
c.1568A>T (p.Glu523Val)
c.1475A>T (p.Glu492Val)
c.1484A>T (p.Glu495Val)
c.1628A>T (p.Glu543Val)
c.*1337A>T (n.*1337A>T)
c.1610A>T (p.Glu537Val)
c.1670A>T (p.Glu557Val)
n.1546A>T
c.1592A>T (p.Glu531Val)
c.1862A>T (p.Glu621Val)
c.1871A>T (p.Glu624Val)
c.1217A>T (p.Glu406Val)
c.1661A>T (p.Glu554Val)
9g.135770406G>ACA467698549KCNT1c.1728G>A (p.Glu576=)
c.1569G>A (p.Glu523=)
c.1476G>A (p.Glu492=)
c.1485G>A (p.Glu495=)
c.1629G>A (p.Glu543=)
c.*1338G>A (n.*1338G>A)
c.1611G>A (p.Glu537=)
c.1671G>A (p.Glu557=)
n.1547G>A
c.1593G>A (p.Glu531=)
c.1863G>A (p.Glu621=)
c.1872G>A (p.Glu624=)
c.1218G>A (p.Glu406=)
c.1662G>A (p.Glu554=)
 dbSNP gnomAD v2 gnomAD v4
9g.135770406G>CCA375506718KCNT1c.1728G>C (p.Glu576Asp)
c.1569G>C (p.Glu523Asp)
c.1476G>C (p.Glu492Asp)
c.1485G>C (p.Glu495Asp)
c.1629G>C (p.Glu543Asp)
c.*1338G>C (n.*1338G>C)
c.1611G>C (p.Glu537Asp)
c.1671G>C (p.Glu557Asp)
n.1547G>C
c.1593G>C (p.Glu531Asp)
c.1863G>C (p.Glu621Asp)
c.1872G>C (p.Glu624Asp)
c.1218G>C (p.Glu406Asp)
c.1662G>C (p.Glu554Asp)
9g.135770406G=CA1883873560KCNT1c.1728G= (p.Glu576=)
c.1569G= (p.Glu523=)
c.1476G= (p.Glu492=)
c.1485G= (p.Glu495=)
c.1629G= (p.Glu543=)
c.*1338G= (n.*1338G=)
c.1611G= (p.Glu537=)
c.1671G= (p.Glu557=)
n.1547G=
c.1593G= (p.Glu531=)
c.1863G= (p.Glu621=)
c.1872G= (p.Glu624=)
c.1218G= (p.Glu406=)
c.1662G= (p.Glu554=)
9g.135770406G>TCA375506719KCNT1c.1728G>T (p.Glu576Asp)
c.1569G>T (p.Glu523Asp)
c.1476G>T (p.Glu492Asp)
c.1485G>T (p.Glu495Asp)
c.1629G>T (p.Glu543Asp)
c.*1338G>T (n.*1338G>T)
c.1611G>T (p.Glu537Asp)
c.1671G>T (p.Glu557Asp)
n.1547G>T
c.1593G>T (p.Glu531Asp)
c.1863G>T (p.Glu621Asp)
c.1872G>T (p.Glu624Asp)
c.1218G>T (p.Glu406Asp)
c.1662G>T (p.Glu554Asp)
 gnomAD v4
9g.135770407G>ACA375506721KCNT1c.1729G>A (p.Gly577Ser)
c.1570G>A (p.Gly524Ser)
c.1477G>A (p.Gly493Ser)
c.1486G>A (p.Gly496Ser)
c.1630G>A (p.Gly544Ser)
c.*1339G>A (n.*1339G>A)
c.1612G>A (p.Gly538Ser)
c.1672G>A (p.Gly558Ser)
n.1548G>A
c.1594G>A (p.Gly532Ser)
c.1864G>A (p.Gly622Ser)
c.1873G>A (p.Gly625Ser)
c.1219G>A (p.Gly407Ser)
c.1663G>A (p.Gly555Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770407G>CCA375506723KCNT1c.1729G>C (p.Gly577Arg)
c.1570G>C (p.Gly524Arg)
c.1477G>C (p.Gly493Arg)
c.1486G>C (p.Gly496Arg)
c.1630G>C (p.Gly544Arg)
c.*1339G>C (n.*1339G>C)
c.1612G>C (p.Gly538Arg)
c.1672G>C (p.Gly558Arg)
n.1548G>C
c.1594G>C (p.Gly532Arg)
c.1864G>C (p.Gly622Arg)
c.1873G>C (p.Gly625Arg)
c.1219G>C (p.Gly407Arg)
c.1663G>C (p.Gly555Arg)
9g.135770407G=CA1883873563KCNT1c.1729G= (p.Gly577=)
c.1570G= (p.Gly524=)
c.1477G= (p.Gly493=)
c.1486G= (p.Gly496=)
c.1630G= (p.Gly544=)
c.*1339G= (n.*1339G=)
c.1612G= (p.Gly538=)
c.1672G= (p.Gly558=)
n.1548G=
c.1594G= (p.Gly532=)
c.1864G= (p.Gly622=)
c.1873G= (p.Gly625=)
c.1219G= (p.Gly407=)
c.1663G= (p.Gly555=)
9g.135770407G>TCA375506725KCNT1c.1729G>T (p.Gly577Cys)
c.1570G>T (p.Gly524Cys)
c.1477G>T (p.Gly493Cys)
c.1486G>T (p.Gly496Cys)
c.1630G>T (p.Gly544Cys)
c.*1339G>T (n.*1339G>T)
c.1612G>T (p.Gly538Cys)
c.1672G>T (p.Gly558Cys)
n.1548G>T
c.1594G>T (p.Gly532Cys)
c.1864G>T (p.Gly622Cys)
c.1873G>T (p.Gly625Cys)
c.1219G>T (p.Gly407Cys)
c.1663G>T (p.Gly555Cys)
9g.135770408G>ACA375506727KCNT1c.1730G>A (p.Gly577Asp)
c.1571G>A (p.Gly524Asp)
c.1478G>A (p.Gly493Asp)
c.1487G>A (p.Gly496Asp)
c.1631G>A (p.Gly544Asp)
c.*1340G>A (n.*1340G>A)
c.1613G>A (p.Gly538Asp)
c.1673G>A (p.Gly558Asp)
n.1549G>A
c.1595G>A (p.Gly532Asp)
c.1865G>A (p.Gly622Asp)
c.1874G>A (p.Gly625Asp)
c.1220G>A (p.Gly407Asp)
c.1664G>A (p.Gly555Asp)
 gnomAD v4
9g.135770408G>CCA375506728KCNT1c.1730G>C (p.Gly577Ala)
c.1571G>C (p.Gly524Ala)
c.1478G>C (p.Gly493Ala)
c.1487G>C (p.Gly496Ala)
c.1631G>C (p.Gly544Ala)
c.*1340G>C (n.*1340G>C)
c.1613G>C (p.Gly538Ala)
c.1673G>C (p.Gly558Ala)
n.1549G>C
c.1595G>C (p.Gly532Ala)
c.1865G>C (p.Gly622Ala)
c.1874G>C (p.Gly625Ala)
c.1220G>C (p.Gly407Ala)
c.1664G>C (p.Gly555Ala)
9g.135770408G>TCA375506729KCNT1c.1730G>T (p.Gly577Val)
c.1571G>T (p.Gly524Val)
c.1478G>T (p.Gly493Val)
c.1487G>T (p.Gly496Val)
c.1631G>T (p.Gly544Val)
c.*1340G>T (n.*1340G>T)
c.1613G>T (p.Gly538Val)
c.1673G>T (p.Gly558Val)
n.1549G>T
c.1595G>T (p.Gly532Val)
c.1865G>T (p.Gly622Val)
c.1874G>T (p.Gly625Val)
c.1220G>T (p.Gly407Val)
c.1664G>T (p.Gly555Val)
9g.135770409C>ACA467698553KCNT1c.1731C>A (p.Gly577=)
c.1572C>A (p.Gly524=)
c.1479C>A (p.Gly493=)
c.1488C>A (p.Gly496=)
c.1632C>A (p.Gly544=)
c.*1341C>A (n.*1341C>A)
c.1614C>A (p.Gly538=)
c.1674C>A (p.Gly558=)
n.1550C>A
c.1596C>A (p.Gly532=)
c.1866C>A (p.Gly622=)
c.1875C>A (p.Gly625=)
c.1221C>A (p.Gly407=)
c.1665C>A (p.Gly555=)
 ClinVar
9g.135770409C=CA1883873566KCNT1c.1731C= (p.Gly577=)
c.1572C= (p.Gly524=)
c.1479C= (p.Gly493=)
c.1488C= (p.Gly496=)
c.1632C= (p.Gly544=)
c.*1341C= (n.*1341C=)
c.1614C= (p.Gly538=)
c.1674C= (p.Gly558=)
n.1550C=
c.1596C= (p.Gly532=)
c.1866C= (p.Gly622=)
c.1875C= (p.Gly625=)
c.1221C= (p.Gly407=)
c.1665C= (p.Gly555=)
9g.135770409C>GCA467698554KCNT1c.1731C>G (p.Gly577=)
c.1572C>G (p.Gly524=)
c.1479C>G (p.Gly493=)
c.1488C>G (p.Gly496=)
c.1632C>G (p.Gly544=)
c.*1341C>G (n.*1341C>G)
c.1614C>G (p.Gly538=)
c.1674C>G (p.Gly558=)
n.1550C>G
c.1596C>G (p.Gly532=)
c.1866C>G (p.Gly622=)
c.1875C>G (p.Gly625=)
c.1221C>G (p.Gly407=)
c.1665C>G (p.Gly555=)
9g.135770409C>TCA467698555KCNT1c.1731C>T (p.Gly577=)
c.1572C>T (p.Gly524=)
c.1479C>T (p.Gly493=)
c.1488C>T (p.Gly496=)
c.1632C>T (p.Gly544=)
c.*1341C>T (n.*1341C>T)
c.1614C>T (p.Gly538=)
c.1674C>T (p.Gly558=)
n.1550C>T
c.1596C>T (p.Gly532=)
c.1866C>T (p.Gly622=)
c.1875C>T (p.Gly625=)
c.1221C>T (p.Gly407=)
c.1665C>T (p.Gly555=)
 dbSNP
9g.135770410A=CA1883873570KCNT1c.1732A= (p.Lys578=)
c.1573A= (p.Lys525=)
c.1480A= (p.Lys494=)
c.1489A= (p.Lys497=)
c.1633A= (p.Lys545=)
c.*1342A= (n.*1342A=)
c.1615A= (p.Lys539=)
c.1675A= (p.Lys559=)
n.1551A=
c.1597A= (p.Lys533=)
c.1867A= (p.Lys623=)
c.1876A= (p.Lys626=)
c.1222A= (p.Lys408=)
c.1666A= (p.Lys556=)
9g.135770410A>CCA375506733KCNT1c.1732A>C (p.Lys578Gln)
c.1573A>C (p.Lys525Gln)
c.1480A>C (p.Lys494Gln)
c.1489A>C (p.Lys497Gln)
c.1633A>C (p.Lys545Gln)
c.*1342A>C (n.*1342A>C)
c.1615A>C (p.Lys539Gln)
c.1675A>C (p.Lys559Gln)
n.1551A>C
c.1597A>C (p.Lys533Gln)
c.1867A>C (p.Lys623Gln)
c.1876A>C (p.Lys626Gln)
c.1222A>C (p.Lys408Gln)
c.1666A>C (p.Lys556Gln)
9g.135770410A>GCA5327042KCNT1c.1732A>G (p.Lys578Glu)
c.1573A>G (p.Lys525Glu)
c.1480A>G (p.Lys494Glu)
c.1489A>G (p.Lys497Glu)
c.1633A>G (p.Lys545Glu)
c.*1342A>G (n.*1342A>G)
c.1615A>G (p.Lys539Glu)
c.1675A>G (p.Lys559Glu)
n.1551A>G
c.1597A>G (p.Lys533Glu)
c.1867A>G (p.Lys623Glu)
c.1876A>G (p.Lys626Glu)
c.1222A>G (p.Lys408Glu)
c.1666A>G (p.Lys556Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770410A>TCA375506731KCNT1c.1732A>T (p.Lys578Ter)
c.1573A>T (p.Lys525Ter)
c.1480A>T (p.Lys494Ter)
c.1489A>T (p.Lys497Ter)
c.1633A>T (p.Lys545Ter)
c.*1342A>T (n.*1342A>T)
c.1615A>T (p.Lys539Ter)
c.1675A>T (p.Lys559Ter)
n.1551A>T
c.1597A>T (p.Lys533Ter)
c.1867A>T (p.Lys623Ter)
c.1876A>T (p.Lys626Ter)
c.1222A>T (p.Lys408Ter)
c.1666A>T (p.Lys556Ter)
9g.135770411A=CA1883873582KCNT1c.1733A= (p.Lys578=)
c.1574A= (p.Lys525=)
c.1481A= (p.Lys494=)
c.1490A= (p.Lys497=)
c.1634A= (p.Lys545=)
c.*1343A= (n.*1343A=)
c.1616A= (p.Lys539=)
c.1676A= (p.Lys559=)
n.1552A=
c.1598A= (p.Lys533=)
c.1868A= (p.Lys623=)
c.1877A= (p.Lys626=)
c.1223A= (p.Lys408=)
c.1667A= (p.Lys556=)
9g.135770411A>CCA375506735KCNT1c.1733A>C (p.Lys578Thr)
c.1574A>C (p.Lys525Thr)
c.1481A>C (p.Lys494Thr)
c.1490A>C (p.Lys497Thr)
c.1634A>C (p.Lys545Thr)
c.*1343A>C (n.*1343A>C)
c.1616A>C (p.Lys539Thr)
c.1676A>C (p.Lys559Thr)
n.1552A>C
c.1598A>C (p.Lys533Thr)
c.1868A>C (p.Lys623Thr)
c.1877A>C (p.Lys626Thr)
c.1223A>C (p.Lys408Thr)
c.1667A>C (p.Lys556Thr)
9g.135770411A>GCA375506737KCNT1c.1733A>G (p.Lys578Arg)
c.1574A>G (p.Lys525Arg)
c.1481A>G (p.Lys494Arg)
c.1490A>G (p.Lys497Arg)
c.1634A>G (p.Lys545Arg)
c.*1343A>G (n.*1343A>G)
c.1616A>G (p.Lys539Arg)
c.1676A>G (p.Lys559Arg)
n.1552A>G
c.1598A>G (p.Lys533Arg)
c.1868A>G (p.Lys623Arg)
c.1877A>G (p.Lys626Arg)
c.1223A>G (p.Lys408Arg)
c.1667A>G (p.Lys556Arg)
9g.135770411A>TCA5327043KCNT1c.1733A>T (p.Lys578Met)
c.1574A>T (p.Lys525Met)
c.1481A>T (p.Lys494Met)
c.1490A>T (p.Lys497Met)
c.1634A>T (p.Lys545Met)
c.*1343A>T (n.*1343A>T)
c.1616A>T (p.Lys539Met)
c.1676A>T (p.Lys559Met)
n.1552A>T
c.1598A>T (p.Lys533Met)
c.1868A>T (p.Lys623Met)
c.1877A>T (p.Lys626Met)
c.1223A>T (p.Lys408Met)
c.1667A>T (p.Lys556Met)
 dbSNP ExAC
9g.135770412G>ACA467698559KCNT1c.1734G>A (p.Lys578=)
c.1575G>A (p.Lys525=)
c.1482G>A (p.Lys494=)
c.1491G>A (p.Lys497=)
c.1635G>A (p.Lys545=)
c.*1344G>A (n.*1344G>A)
c.1617G>A (p.Lys539=)
c.1677G>A (p.Lys559=)
n.1553G>A
c.1599G>A (p.Lys533=)
c.1869G>A (p.Lys623=)
c.1878G>A (p.Lys626=)
c.1224G>A (p.Lys408=)
c.1668G>A (p.Lys556=)
9g.135770412G>CCA375506739KCNT1c.1734G>C (p.Lys578Asn)
c.1575G>C (p.Lys525Asn)
c.1482G>C (p.Lys494Asn)
c.1491G>C (p.Lys497Asn)
c.1635G>C (p.Lys545Asn)
c.*1344G>C (n.*1344G>C)
c.1617G>C (p.Lys539Asn)
c.1677G>C (p.Lys559Asn)
n.1553G>C
c.1599G>C (p.Lys533Asn)
c.1869G>C (p.Lys623Asn)
c.1878G>C (p.Lys626Asn)
c.1224G>C (p.Lys408Asn)
c.1668G>C (p.Lys556Asn)
9g.135770412G>TCA375506740KCNT1c.1734G>T (p.Lys578Asn)
c.1575G>T (p.Lys525Asn)
c.1482G>T (p.Lys494Asn)
c.1491G>T (p.Lys497Asn)
c.1635G>T (p.Lys545Asn)
c.*1344G>T (n.*1344G>T)
c.1617G>T (p.Lys539Asn)
c.1677G>T (p.Lys559Asn)
n.1553G>T
c.1599G>T (p.Lys533Asn)
c.1869G>T (p.Lys623Asn)
c.1878G>T (p.Lys626Asn)
c.1224G>T (p.Lys408Asn)
c.1668G>T (p.Lys556Asn)
9g.135770413A>CCA375506746KCNT1c.1735A>C (p.Ser579Arg)
c.1576A>C (p.Ser526Arg)
c.1483A>C (p.Ser495Arg)
c.1492A>C (p.Ser498Arg)
c.1636A>C (p.Ser546Arg)
c.*1345A>C (n.*1345A>C)
c.1618A>C (p.Ser540Arg)
c.1678A>C (p.Ser560Arg)
n.1554A>C
c.1600A>C (p.Ser534Arg)
c.1870A>C (p.Ser624Arg)
c.1879A>C (p.Ser627Arg)
c.1225A>C (p.Ser409Arg)
c.1669A>C (p.Ser557Arg)
9g.135770413A>GCA375506744KCNT1c.1735A>G (p.Ser579Gly)
c.1576A>G (p.Ser526Gly)
c.1483A>G (p.Ser495Gly)
c.1492A>G (p.Ser498Gly)
c.1636A>G (p.Ser546Gly)
c.*1345A>G (n.*1345A>G)
c.1618A>G (p.Ser540Gly)
c.1678A>G (p.Ser560Gly)
n.1554A>G
c.1600A>G (p.Ser534Gly)
c.1870A>G (p.Ser624Gly)
c.1879A>G (p.Ser627Gly)
c.1225A>G (p.Ser409Gly)
c.1669A>G (p.Ser557Gly)
9g.135770413A>TCA375506743KCNT1c.1735A>T (p.Ser579Cys)
c.1576A>T (p.Ser526Cys)
c.1483A>T (p.Ser495Cys)
c.1492A>T (p.Ser498Cys)
c.1636A>T (p.Ser546Cys)
c.*1345A>T (n.*1345A>T)
c.1618A>T (p.Ser540Cys)
c.1678A>T (p.Ser560Cys)
n.1554A>T
c.1600A>T (p.Ser534Cys)
c.1870A>T (p.Ser624Cys)
c.1879A>T (p.Ser627Cys)
c.1225A>T (p.Ser409Cys)
c.1669A>T (p.Ser557Cys)
9g.135770414G>ACA375506748KCNT1c.1736G>A (p.Ser579Asn)
c.1577G>A (p.Ser526Asn)
c.1484G>A (p.Ser495Asn)
c.1493G>A (p.Ser498Asn)
c.1637G>A (p.Ser546Asn)
c.*1346G>A (n.*1346G>A)
c.1619G>A (p.Ser540Asn)
c.1679G>A (p.Ser560Asn)
n.1555G>A
c.1601G>A (p.Ser534Asn)
c.1871G>A (p.Ser624Asn)
c.1880G>A (p.Ser627Asn)
c.1226G>A (p.Ser409Asn)
c.1670G>A (p.Ser557Asn)
 dbSNP gnomAD v2
9g.135770414G>CCA375506750KCNT1c.1736G>C (p.Ser579Thr)
c.1577G>C (p.Ser526Thr)
c.1484G>C (p.Ser495Thr)
c.1493G>C (p.Ser498Thr)
c.1637G>C (p.Ser546Thr)
c.*1346G>C (n.*1346G>C)
c.1619G>C (p.Ser540Thr)
c.1679G>C (p.Ser560Thr)
n.1555G>C
c.1601G>C (p.Ser534Thr)
c.1871G>C (p.Ser624Thr)
c.1880G>C (p.Ser627Thr)
c.1226G>C (p.Ser409Thr)
c.1670G>C (p.Ser557Thr)
9g.135770414G=CA1883873587KCNT1c.1736G= (p.Ser579=)
c.1577G= (p.Ser526=)
c.1484G= (p.Ser495=)
c.1493G= (p.Ser498=)
c.1637G= (p.Ser546=)
c.*1346G= (n.*1346G=)
c.1619G= (p.Ser540=)
c.1679G= (p.Ser560=)
n.1555G=
c.1601G= (p.Ser534=)
c.1871G= (p.Ser624=)
c.1880G= (p.Ser627=)
c.1226G= (p.Ser409=)
c.1670G= (p.Ser557=)
9g.135770414G>TCA375506753KCNT1c.1736G>T (p.Ser579Ile)
c.1577G>T (p.Ser526Ile)
c.1484G>T (p.Ser495Ile)
c.1493G>T (p.Ser498Ile)
c.1637G>T (p.Ser546Ile)
c.*1346G>T (n.*1346G>T)
c.1619G>T (p.Ser540Ile)
c.1679G>T (p.Ser560Ile)
n.1555G>T
c.1601G>T (p.Ser534Ile)
c.1871G>T (p.Ser624Ile)
c.1880G>T (p.Ser627Ile)
c.1226G>T (p.Ser409Ile)
c.1670G>T (p.Ser557Ile)
9g.135770415C>ACA375506755KCNT1c.1737C>A (p.Ser579Arg)
c.1578C>A (p.Ser526Arg)
c.1485C>A (p.Ser495Arg)
c.1494C>A (p.Ser498Arg)
c.1638C>A (p.Ser546Arg)
c.*1347C>A (n.*1347C>A)
c.1620C>A (p.Ser540Arg)
c.1680C>A (p.Ser560Arg)
n.1556C>A
c.1602C>A (p.Ser534Arg)
c.1872C>A (p.Ser624Arg)
c.1881C>A (p.Ser627Arg)
c.1227C>A (p.Ser409Arg)
c.1671C>A (p.Ser557Arg)
9g.135770415C=CA1883873589KCNT1c.1737C= (p.Ser579=)
c.1578C= (p.Ser526=)
c.1485C= (p.Ser495=)
c.1494C= (p.Ser498=)
c.1638C= (p.Ser546=)
c.*1347C= (n.*1347C=)
c.1620C= (p.Ser540=)
c.1680C= (p.Ser560=)
n.1556C=
c.1602C= (p.Ser534=)
c.1872C= (p.Ser624=)
c.1881C= (p.Ser627=)
c.1227C= (p.Ser409=)
c.1671C= (p.Ser557=)
9g.135770415C>GCA375506756KCNT1c.1737C>G (p.Ser579Arg)
c.1578C>G (p.Ser526Arg)
c.1485C>G (p.Ser495Arg)
c.1494C>G (p.Ser498Arg)
c.1638C>G (p.Ser546Arg)
c.*1347C>G (n.*1347C>G)
c.1620C>G (p.Ser540Arg)
c.1680C>G (p.Ser560Arg)
n.1556C>G
c.1602C>G (p.Ser534Arg)
c.1872C>G (p.Ser624Arg)
c.1881C>G (p.Ser627Arg)
c.1227C>G (p.Ser409Arg)
c.1671C>G (p.Ser557Arg)
 gnomAD v4
9g.135770415C>TCA5327044KCNT1c.1737C>T (p.Ser579=)
c.1578C>T (p.Ser526=)
c.1485C>T (p.Ser495=)
c.1494C>T (p.Ser498=)
c.1638C>T (p.Ser546=)
c.*1347C>T (n.*1347C>T)
c.1620C>T (p.Ser540=)
c.1680C>T (p.Ser560=)
n.1556C>T
c.1602C>T (p.Ser534=)
c.1872C>T (p.Ser624=)
c.1881C>T (p.Ser627=)
c.1227C>T (p.Ser409=)
c.1671C>T (p.Ser557=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770416T>ACA375506759KCNT1c.1738T>A (p.Phe580Ile)
c.1579T>A (p.Phe527Ile)
c.1486T>A (p.Phe496Ile)
c.1495T>A (p.Phe499Ile)
c.1639T>A (p.Phe547Ile)
c.*1348T>A (n.*1348T>A)
c.1621T>A (p.Phe541Ile)
c.1681T>A (p.Phe561Ile)
n.1557T>A
c.1603T>A (p.Phe535Ile)
c.1873T>A (p.Phe625Ile)
c.1882T>A (p.Phe628Ile)
c.1228T>A (p.Phe410Ile)
c.1672T>A (p.Phe558Ile)
9g.135770416T>CCA375506763KCNT1c.1738T>C (p.Phe580Leu)
c.1579T>C (p.Phe527Leu)
c.1486T>C (p.Phe496Leu)
c.1495T>C (p.Phe499Leu)
c.1639T>C (p.Phe547Leu)
c.*1348T>C (n.*1348T>C)
c.1621T>C (p.Phe541Leu)
c.1681T>C (p.Phe561Leu)
n.1557T>C
c.1603T>C (p.Phe535Leu)
c.1873T>C (p.Phe625Leu)
c.1882T>C (p.Phe628Leu)
c.1228T>C (p.Phe410Leu)
c.1672T>C (p.Phe558Leu)
9g.135770416T>GCA375506761KCNT1c.1738T>G (p.Phe580Val)
c.1579T>G (p.Phe527Val)
c.1486T>G (p.Phe496Val)
c.1495T>G (p.Phe499Val)
c.1639T>G (p.Phe547Val)
c.*1348T>G (n.*1348T>G)
c.1621T>G (p.Phe541Val)
c.1681T>G (p.Phe561Val)
n.1557T>G
c.1603T>G (p.Phe535Val)
c.1873T>G (p.Phe625Val)
c.1882T>G (p.Phe628Val)
c.1228T>G (p.Phe410Val)
c.1672T>G (p.Phe558Val)
9g.135770417T>ACA375506765KCNT1c.1739T>A (p.Phe580Tyr)
c.1580T>A (p.Phe527Tyr)
c.1487T>A (p.Phe496Tyr)
c.1496T>A (p.Phe499Tyr)
c.1640T>A (p.Phe547Tyr)
c.*1349T>A (n.*1349T>A)
c.1622T>A (p.Phe541Tyr)
c.1682T>A (p.Phe561Tyr)
n.1558T>A
c.1604T>A (p.Phe535Tyr)
c.1874T>A (p.Phe625Tyr)
c.1883T>A (p.Phe628Tyr)
c.1229T>A (p.Phe410Tyr)
c.1673T>A (p.Phe558Tyr)
9g.135770417T>CCA375506767KCNT1c.1739T>C (p.Phe580Ser)
c.1580T>C (p.Phe527Ser)
c.1487T>C (p.Phe496Ser)
c.1496T>C (p.Phe499Ser)
c.1640T>C (p.Phe547Ser)
c.*1349T>C (n.*1349T>C)
c.1622T>C (p.Phe541Ser)
c.1682T>C (p.Phe561Ser)
n.1558T>C
c.1604T>C (p.Phe535Ser)
c.1874T>C (p.Phe625Ser)
c.1883T>C (p.Phe628Ser)
c.1229T>C (p.Phe410Ser)
c.1673T>C (p.Phe558Ser)
9g.135770417T>GCA375506769KCNT1c.1739T>G (p.Phe580Cys)
c.1580T>G (p.Phe527Cys)
c.1487T>G (p.Phe496Cys)
c.1496T>G (p.Phe499Cys)
c.1640T>G (p.Phe547Cys)
c.*1349T>G (n.*1349T>G)
c.1622T>G (p.Phe541Cys)
c.1682T>G (p.Phe561Cys)
n.1558T>G
c.1604T>G (p.Phe535Cys)
c.1874T>G (p.Phe625Cys)
c.1883T>G (p.Phe628Cys)
c.1229T>G (p.Phe410Cys)
c.1673T>G (p.Phe558Cys)
9g.135770418C>ACA375506771KCNT1c.1740C>A (p.Phe580Leu)
c.1581C>A (p.Phe527Leu)
c.1488C>A (p.Phe496Leu)
c.1497C>A (p.Phe499Leu)
c.1641C>A (p.Phe547Leu)
c.*1350C>A (n.*1350C>A)
c.1623C>A (p.Phe541Leu)
c.1683C>A (p.Phe561Leu)
n.1559C>A
c.1605C>A (p.Phe535Leu)
c.1875C>A (p.Phe625Leu)
c.1884C>A (p.Phe628Leu)
c.1230C>A (p.Phe410Leu)
c.1674C>A (p.Phe558Leu)
9g.135770418C>GCA375506773KCNT1c.1740C>G (p.Phe580Leu)
c.1581C>G (p.Phe527Leu)
c.1488C>G (p.Phe496Leu)
c.1497C>G (p.Phe499Leu)
c.1641C>G (p.Phe547Leu)
c.*1350C>G (n.*1350C>G)
c.1623C>G (p.Phe541Leu)
c.1683C>G (p.Phe561Leu)
n.1559C>G
c.1605C>G (p.Phe535Leu)
c.1875C>G (p.Phe625Leu)
c.1884C>G (p.Phe628Leu)
c.1230C>G (p.Phe410Leu)
c.1674C>G (p.Phe558Leu)
9g.135770418C>TCA467698562KCNT1c.1740C>T (p.Phe580=)
c.1581C>T (p.Phe527=)
c.1488C>T (p.Phe496=)
c.1497C>T (p.Phe499=)
c.1641C>T (p.Phe547=)
c.*1350C>T (n.*1350C>T)
c.1623C>T (p.Phe541=)
c.1683C>T (p.Phe561=)
n.1559C>T
c.1605C>T (p.Phe535=)
c.1875C>T (p.Phe625=)
c.1884C>T (p.Phe628=)
c.1230C>T (p.Phe410=)
c.1674C>T (p.Phe558=)
9g.135770419A>CCA375506775KCNT1c.1741A>C (p.Thr581Pro)
c.1582A>C (p.Thr528Pro)
c.1489A>C (p.Thr497Pro)
c.1498A>C (p.Thr500Pro)
c.1642A>C (p.Thr548Pro)
c.*1351A>C (n.*1351A>C)
c.1624A>C (p.Thr542Pro)
c.1684A>C (p.Thr562Pro)
n.1560A>C
c.1606A>C (p.Thr536Pro)
c.1876A>C (p.Thr626Pro)
c.1885A>C (p.Thr629Pro)
c.1231A>C (p.Thr411Pro)
c.1675A>C (p.Thr559Pro)
9g.135770419A>GCA375506777KCNT1c.1741A>G (p.Thr581Ala)
c.1582A>G (p.Thr528Ala)
c.1489A>G (p.Thr497Ala)
c.1498A>G (p.Thr500Ala)
c.1642A>G (p.Thr548Ala)
c.*1351A>G (n.*1351A>G)
c.1624A>G (p.Thr542Ala)
c.1684A>G (p.Thr562Ala)
n.1560A>G
c.1606A>G (p.Thr536Ala)
c.1876A>G (p.Thr626Ala)
c.1885A>G (p.Thr629Ala)
c.1231A>G (p.Thr411Ala)
c.1675A>G (p.Thr559Ala)
9g.135770419A>TCA375506778KCNT1c.1741A>T (p.Thr581Ser)
c.1582A>T (p.Thr528Ser)
c.1489A>T (p.Thr497Ser)
c.1498A>T (p.Thr500Ser)
c.1642A>T (p.Thr548Ser)
c.*1351A>T (n.*1351A>T)
c.1624A>T (p.Thr542Ser)
c.1684A>T (p.Thr562Ser)
n.1560A>T
c.1606A>T (p.Thr536Ser)
c.1876A>T (p.Thr626Ser)
c.1885A>T (p.Thr629Ser)
c.1231A>T (p.Thr411Ser)
c.1675A>T (p.Thr559Ser)
9g.135770420C>ACA375506781KCNT1c.1742C>A (p.Thr581Asn)
c.1583C>A (p.Thr528Asn)
c.1490C>A (p.Thr497Asn)
c.1499C>A (p.Thr500Asn)
c.1643C>A (p.Thr548Asn)
c.*1352C>A (n.*1352C>A)
c.1625C>A (p.Thr542Asn)
c.1685C>A (p.Thr562Asn)
n.1561C>A
c.1607C>A (p.Thr536Asn)
c.1877C>A (p.Thr626Asn)
c.1886C>A (p.Thr629Asn)
c.1232C>A (p.Thr411Asn)
c.1676C>A (p.Thr559Asn)
9g.135770420C=CA1883873590KCNT1c.1742C= (p.Thr581=)
c.1583C= (p.Thr528=)
c.1490C= (p.Thr497=)
c.1499C= (p.Thr500=)
c.1643C= (p.Thr548=)
c.*1352C= (n.*1352C=)
c.1625C= (p.Thr542=)
c.1685C= (p.Thr562=)
n.1561C=
c.1607C= (p.Thr536=)
c.1877C= (p.Thr626=)
c.1886C= (p.Thr629=)
c.1232C= (p.Thr411=)
c.1676C= (p.Thr559=)
9g.135770420C>GCA375506783KCNT1c.1742C>G (p.Thr581Ser)
c.1583C>G (p.Thr528Ser)
c.1490C>G (p.Thr497Ser)
c.1499C>G (p.Thr500Ser)
c.1643C>G (p.Thr548Ser)
c.*1352C>G (n.*1352C>G)
c.1625C>G (p.Thr542Ser)
c.1685C>G (p.Thr562Ser)
n.1561C>G
c.1607C>G (p.Thr536Ser)
c.1877C>G (p.Thr626Ser)
c.1886C>G (p.Thr629Ser)
c.1232C>G (p.Thr411Ser)
c.1676C>G (p.Thr559Ser)
9g.135770420C>TCA375506784KCNT1c.1742C>T (p.Thr581Ile)
c.1583C>T (p.Thr528Ile)
c.1490C>T (p.Thr497Ile)
c.1499C>T (p.Thr500Ile)
c.1643C>T (p.Thr548Ile)
c.*1352C>T (n.*1352C>T)
c.1625C>T (p.Thr542Ile)
c.1685C>T (p.Thr562Ile)
n.1561C>T
c.1607C>T (p.Thr536Ile)
c.1877C>T (p.Thr626Ile)
c.1886C>T (p.Thr629Ile)
c.1232C>T (p.Thr411Ile)
c.1676C>T (p.Thr559Ile)
 ClinVar dbSNP gnomAD v2
9g.135770421C>ACA467698564KCNT1c.1743C>A (p.Thr581=)
c.1584C>A (p.Thr528=)
c.1491C>A (p.Thr497=)
c.1500C>A (p.Thr500=)
c.1644C>A (p.Thr548=)
c.*1353C>A (n.*1353C>A)
c.1626C>A (p.Thr542=)
c.1686C>A (p.Thr562=)
n.1562C>A
c.1608C>A (p.Thr536=)
c.1878C>A (p.Thr626=)
c.1887C>A (p.Thr629=)
c.1233C>A (p.Thr411=)
c.1677C>A (p.Thr559=)
 gnomAD v4
9g.135770421C=CA1883873591KCNT1c.1743C= (p.Thr581=)
c.1584C= (p.Thr528=)
c.1491C= (p.Thr497=)
c.1500C= (p.Thr500=)
c.1644C= (p.Thr548=)
c.*1353C= (n.*1353C=)
c.1626C= (p.Thr542=)
c.1686C= (p.Thr562=)
n.1562C=
c.1608C= (p.Thr536=)
c.1878C= (p.Thr626=)
c.1887C= (p.Thr629=)
c.1233C= (p.Thr411=)
c.1677C= (p.Thr559=)
9g.135770421C>GCA467698566KCNT1c.1743C>G (p.Thr581=)
c.1584C>G (p.Thr528=)
c.1491C>G (p.Thr497=)
c.1500C>G (p.Thr500=)
c.1644C>G (p.Thr548=)
c.*1353C>G (n.*1353C>G)
c.1626C>G (p.Thr542=)
c.1686C>G (p.Thr562=)
n.1562C>G
c.1608C>G (p.Thr536=)
c.1878C>G (p.Thr626=)
c.1887C>G (p.Thr629=)
c.1233C>G (p.Thr411=)
c.1677C>G (p.Thr559=)
9g.135770421C>TCA467698565KCNT1c.1743C>T (p.Thr581=)
c.1584C>T (p.Thr528=)
c.1491C>T (p.Thr497=)
c.1500C>T (p.Thr500=)
c.1644C>T (p.Thr548=)
c.*1353C>T (n.*1353C>T)
c.1626C>T (p.Thr542=)
c.1686C>T (p.Thr562=)
n.1562C>T
c.1608C>T (p.Thr536=)
c.1878C>T (p.Thr626=)
c.1887C>T (p.Thr629=)
c.1233C>T (p.Thr411=)
c.1677C>T (p.Thr559=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770422T>ACA375506787KCNT1c.1744T>A (p.Tyr582Asn)
c.1585T>A (p.Tyr529Asn)
c.1492T>A (p.Tyr498Asn)
c.1501T>A (p.Tyr501Asn)
c.1645T>A (p.Tyr549Asn)
c.*1354T>A (n.*1354T>A)
c.1627T>A (p.Tyr543Asn)
c.1687T>A (p.Tyr563Asn)
n.1563T>A
c.1609T>A (p.Tyr537Asn)
c.1879T>A (p.Tyr627Asn)
c.1888T>A (p.Tyr630Asn)
c.1234T>A (p.Tyr412Asn)
c.1678T>A (p.Tyr560Asn)
9g.135770422T>CCA375506788KCNT1c.1744T>C (p.Tyr582His)
c.1585T>C (p.Tyr529His)
c.1492T>C (p.Tyr498His)
c.1501T>C (p.Tyr501His)
c.1645T>C (p.Tyr549His)
c.*1354T>C (n.*1354T>C)
c.1627T>C (p.Tyr543His)
c.1687T>C (p.Tyr563His)
n.1563T>C
c.1609T>C (p.Tyr537His)
c.1879T>C (p.Tyr627His)
c.1888T>C (p.Tyr630His)
c.1234T>C (p.Tyr412His)
c.1678T>C (p.Tyr560His)
9g.135770422T>GCA375506786KCNT1c.1744T>G (p.Tyr582Asp)
c.1585T>G (p.Tyr529Asp)
c.1492T>G (p.Tyr498Asp)
c.1501T>G (p.Tyr501Asp)
c.1645T>G (p.Tyr549Asp)
c.*1354T>G (n.*1354T>G)
c.1627T>G (p.Tyr543Asp)
c.1687T>G (p.Tyr563Asp)
n.1563T>G
c.1609T>G (p.Tyr537Asp)
c.1879T>G (p.Tyr627Asp)
c.1888T>G (p.Tyr630Asp)
c.1234T>G (p.Tyr412Asp)
c.1678T>G (p.Tyr560Asp)
9g.135770423A=CA1883873592KCNT1c.1745A= (p.Tyr582=)
c.1586A= (p.Tyr529=)
c.1493A= (p.Tyr498=)
c.1502A= (p.Tyr501=)
c.1646A= (p.Tyr549=)
c.*1355A= (n.*1355A=)
c.1628A= (p.Tyr543=)
c.1688A= (p.Tyr563=)
n.1564A=
c.1610A= (p.Tyr537=)
c.1880A= (p.Tyr627=)
c.1889A= (p.Tyr630=)
c.1235A= (p.Tyr412=)
c.1679A= (p.Tyr560=)
9g.135770423A>CCA375506791KCNT1c.1745A>C (p.Tyr582Ser)
c.1586A>C (p.Tyr529Ser)
c.1493A>C (p.Tyr498Ser)
c.1502A>C (p.Tyr501Ser)
c.1646A>C (p.Tyr549Ser)
c.*1355A>C (n.*1355A>C)
c.1628A>C (p.Tyr543Ser)
c.1688A>C (p.Tyr563Ser)
n.1564A>C
c.1610A>C (p.Tyr537Ser)
c.1880A>C (p.Tyr627Ser)
c.1889A>C (p.Tyr630Ser)
c.1235A>C (p.Tyr412Ser)
c.1679A>C (p.Tyr560Ser)
9g.135770423A>GCA375506790KCNT1c.1745A>G (p.Tyr582Cys)
c.1586A>G (p.Tyr529Cys)
c.1493A>G (p.Tyr498Cys)
c.1502A>G (p.Tyr501Cys)
c.1646A>G (p.Tyr549Cys)
c.*1355A>G (n.*1355A>G)
c.1628A>G (p.Tyr543Cys)
c.1688A>G (p.Tyr563Cys)
n.1564A>G
c.1610A>G (p.Tyr537Cys)
c.1880A>G (p.Tyr627Cys)
c.1889A>G (p.Tyr630Cys)
c.1235A>G (p.Tyr412Cys)
c.1679A>G (p.Tyr560Cys)
 ClinVar dbSNP gnomAD v4
9g.135770423A>TCA375506793KCNT1c.1745A>T (p.Tyr582Phe)
c.1586A>T (p.Tyr529Phe)
c.1493A>T (p.Tyr498Phe)
c.1502A>T (p.Tyr501Phe)
c.1646A>T (p.Tyr549Phe)
c.*1355A>T (n.*1355A>T)
c.1628A>T (p.Tyr543Phe)
c.1688A>T (p.Tyr563Phe)
n.1564A>T
c.1610A>T (p.Tyr537Phe)
c.1880A>T (p.Tyr627Phe)
c.1889A>T (p.Tyr630Phe)
c.1235A>T (p.Tyr412Phe)
c.1679A>T (p.Tyr560Phe)
9g.135770424C>ACA375506795KCNT1c.1746C>A (p.Tyr582Ter)
c.1587C>A (p.Tyr529Ter)
c.1494C>A (p.Tyr498Ter)
c.1503C>A (p.Tyr501Ter)
c.1647C>A (p.Tyr549Ter)
c.*1356C>A (n.*1356C>A)
c.1629C>A (p.Tyr543Ter)
c.1689C>A (p.Tyr563Ter)
n.1565C>A
c.1611C>A (p.Tyr537Ter)
c.1881C>A (p.Tyr627Ter)
c.1890C>A (p.Tyr630Ter)
c.1236C>A (p.Tyr412Ter)
c.1680C>A (p.Tyr560Ter)
9g.135770424C=CA1883873603KCNT1c.1746C= (p.Tyr582=)
c.1587C= (p.Tyr529=)
c.1494C= (p.Tyr498=)
c.1503C= (p.Tyr501=)
c.1647C= (p.Tyr549=)
c.*1356C= (n.*1356C=)
c.1629C= (p.Tyr543=)
c.1689C= (p.Tyr563=)
n.1565C=
c.1611C= (p.Tyr537=)
c.1881C= (p.Tyr627=)
c.1890C= (p.Tyr630=)
c.1236C= (p.Tyr412=)
c.1680C= (p.Tyr560=)
9g.135770424C>GCA375506797KCNT1c.1746C>G (p.Tyr582Ter)
c.1587C>G (p.Tyr529Ter)
c.1494C>G (p.Tyr498Ter)
c.1503C>G (p.Tyr501Ter)
c.1647C>G (p.Tyr549Ter)
c.*1356C>G (n.*1356C>G)
c.1629C>G (p.Tyr543Ter)
c.1689C>G (p.Tyr563Ter)
n.1565C>G
c.1611C>G (p.Tyr537Ter)
c.1881C>G (p.Tyr627Ter)
c.1890C>G (p.Tyr630Ter)
c.1236C>G (p.Tyr412Ter)
c.1680C>G (p.Tyr560Ter)
9g.135770424C>TCA5327045KCNT1c.1746C>T (p.Tyr582=)
c.1587C>T (p.Tyr529=)
c.1494C>T (p.Tyr498=)
c.1503C>T (p.Tyr501=)
c.1647C>T (p.Tyr549=)
c.*1356C>T (n.*1356C>T)
c.1629C>T (p.Tyr543=)
c.1689C>T (p.Tyr563=)
n.1565C>T
c.1611C>T (p.Tyr537=)
c.1881C>T (p.Tyr627=)
c.1890C>T (p.Tyr630=)
c.1236C>T (p.Tyr412=)
c.1680C>T (p.Tyr560=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched