Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
9g.135770425G>ACA5327046KCNT1c.1747G>A (p.Ala583Thr)
c.1588G>A (p.Ala530Thr)
c.1495G>A (p.Ala499Thr)
c.1504G>A (p.Ala502Thr)
c.1648G>A (p.Ala550Thr)
c.*1357G>A (n.*1357G>A)
c.1630G>A (p.Ala544Thr)
c.1690G>A (p.Ala564Thr)
n.1566G>A
c.1612G>A (p.Ala538Thr)
c.1882G>A (p.Ala628Thr)
c.1891G>A (p.Ala631Thr)
c.1237G>A (p.Ala413Thr)
c.1681G>A (p.Ala561Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770425G>CCA375506800KCNT1c.1747G>C (p.Ala583Pro)
c.1588G>C (p.Ala530Pro)
c.1495G>C (p.Ala499Pro)
c.1504G>C (p.Ala502Pro)
c.1648G>C (p.Ala550Pro)
c.*1357G>C (n.*1357G>C)
c.1630G>C (p.Ala544Pro)
c.1690G>C (p.Ala564Pro)
n.1566G>C
c.1612G>C (p.Ala538Pro)
c.1882G>C (p.Ala628Pro)
c.1891G>C (p.Ala631Pro)
c.1237G>C (p.Ala413Pro)
c.1681G>C (p.Ala561Pro)
9g.135770425G=CA1883873611KCNT1c.1747G= (p.Ala583=)
c.1588G= (p.Ala530=)
c.1495G= (p.Ala499=)
c.1504G= (p.Ala502=)
c.1648G= (p.Ala550=)
c.*1357G= (n.*1357G=)
c.1630G= (p.Ala544=)
c.1690G= (p.Ala564=)
n.1566G=
c.1612G= (p.Ala538=)
c.1882G= (p.Ala628=)
c.1891G= (p.Ala631=)
c.1237G= (p.Ala413=)
c.1681G= (p.Ala561=)
9g.135770425G>TCA375506801KCNT1c.1747G>T (p.Ala583Ser)
c.1588G>T (p.Ala530Ser)
c.1495G>T (p.Ala499Ser)
c.1504G>T (p.Ala502Ser)
c.1648G>T (p.Ala550Ser)
c.*1357G>T (n.*1357G>T)
c.1630G>T (p.Ala544Ser)
c.1690G>T (p.Ala564Ser)
n.1566G>T
c.1612G>T (p.Ala538Ser)
c.1882G>T (p.Ala628Ser)
c.1891G>T (p.Ala631Ser)
c.1237G>T (p.Ala413Ser)
c.1681G>T (p.Ala561Ser)
9g.135770426C>ACA375506802KCNT1c.1748C>A (p.Ala583Glu)
c.1589C>A (p.Ala530Glu)
c.1496C>A (p.Ala499Glu)
c.1505C>A (p.Ala502Glu)
c.1649C>A (p.Ala550Glu)
c.*1358C>A (n.*1358C>A)
c.1631C>A (p.Ala544Glu)
c.1691C>A (p.Ala564Glu)
n.1567C>A
c.1613C>A (p.Ala538Glu)
c.1883C>A (p.Ala628Glu)
c.1892C>A (p.Ala631Glu)
c.1238C>A (p.Ala413Glu)
c.1682C>A (p.Ala561Glu)
 gnomAD v4
9g.135770426C=CA1883873618KCNT1c.1748C= (p.Ala583=)
c.1589C= (p.Ala530=)
c.1496C= (p.Ala499=)
c.1505C= (p.Ala502=)
c.1649C= (p.Ala550=)
c.*1358C= (n.*1358C=)
c.1631C= (p.Ala544=)
c.1691C= (p.Ala564=)
n.1567C=
c.1613C= (p.Ala538=)
c.1883C= (p.Ala628=)
c.1892C= (p.Ala631=)
c.1238C= (p.Ala413=)
c.1682C= (p.Ala561=)
9g.135770426C>GCA375506803KCNT1c.1748C>G (p.Ala583Gly)
c.1589C>G (p.Ala530Gly)
c.1496C>G (p.Ala499Gly)
c.1505C>G (p.Ala502Gly)
c.1649C>G (p.Ala550Gly)
c.*1358C>G (n.*1358C>G)
c.1631C>G (p.Ala544Gly)
c.1691C>G (p.Ala564Gly)
n.1567C>G
c.1613C>G (p.Ala538Gly)
c.1883C>G (p.Ala628Gly)
c.1892C>G (p.Ala631Gly)
c.1238C>G (p.Ala413Gly)
c.1682C>G (p.Ala561Gly)
 ClinVar dbSNP gnomAD v4
9g.135770426C>TCA375506805KCNT1c.1748C>T (p.Ala583Val)
c.1589C>T (p.Ala530Val)
c.1496C>T (p.Ala499Val)
c.1505C>T (p.Ala502Val)
c.1649C>T (p.Ala550Val)
c.*1358C>T (n.*1358C>T)
c.1631C>T (p.Ala544Val)
c.1691C>T (p.Ala564Val)
n.1567C>T
c.1613C>T (p.Ala538Val)
c.1883C>T (p.Ala628Val)
c.1892C>T (p.Ala631Val)
c.1238C>T (p.Ala413Val)
c.1682C>T (p.Ala561Val)
 ClinVar dbSNP gnomAD v4
9g.135770427G>ACA153303KCNT1c.1749G>A (p.Ala583=)
c.1590G>A (p.Ala530=)
c.1497G>A (p.Ala499=)
c.1506G>A (p.Ala502=)
c.1650G>A (p.Ala550=)
c.*1359G>A (n.*1359G>A)
c.1632G>A (p.Ala544=)
c.1692G>A (p.Ala564=)
n.1568G>A
c.1614G>A (p.Ala538=)
c.1884G>A (p.Ala628=)
c.1893G>A (p.Ala631=)
c.1239G>A (p.Ala413=)
c.1683G>A (p.Ala561=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770427G>CCA467698572KCNT1c.1749G>C (p.Ala583=)
c.1590G>C (p.Ala530=)
c.1497G>C (p.Ala499=)
c.1506G>C (p.Ala502=)
c.1650G>C (p.Ala550=)
c.*1359G>C (n.*1359G>C)
c.1632G>C (p.Ala544=)
c.1692G>C (p.Ala564=)
n.1568G>C
c.1614G>C (p.Ala538=)
c.1884G>C (p.Ala628=)
c.1893G>C (p.Ala631=)
c.1239G>C (p.Ala413=)
c.1683G>C (p.Ala561=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135770427G=CA1883873635KCNT1c.1749G= (p.Ala583=)
c.1590G= (p.Ala530=)
c.1497G= (p.Ala499=)
c.1506G= (p.Ala502=)
c.1650G= (p.Ala550=)
c.*1359G= (n.*1359G=)
c.1632G= (p.Ala544=)
c.1692G= (p.Ala564=)
n.1568G=
c.1614G= (p.Ala538=)
c.1884G= (p.Ala628=)
c.1893G= (p.Ala631=)
c.1239G= (p.Ala413=)
c.1683G= (p.Ala561=)
9g.135770427G>TCA467698573KCNT1c.1749G>T (p.Ala583=)
c.1590G>T (p.Ala530=)
c.1497G>T (p.Ala499=)
c.1506G>T (p.Ala502=)
c.1650G>T (p.Ala550=)
c.*1359G>T (n.*1359G>T)
c.1632G>T (p.Ala544=)
c.1692G>T (p.Ala564=)
n.1568G>T
c.1614G>T (p.Ala538=)
c.1884G>T (p.Ala628=)
c.1893G>T (p.Ala631=)
c.1239G>T (p.Ala413=)
c.1683G>T (p.Ala561=)
9g.135770428G>ACA375506811KCNT1c.1750G>A (p.Ala584Thr)
c.1591G>A (p.Ala531Thr)
c.1498G>A (p.Ala500Thr)
c.1507G>A (p.Ala503Thr)
c.1651G>A (p.Ala551Thr)
c.*1360G>A (n.*1360G>A)
c.1633G>A (p.Ala545Thr)
c.1693G>A (p.Ala565Thr)
n.1569G>A
c.1615G>A (p.Ala539Thr)
c.1885G>A (p.Ala629Thr)
c.1894G>A (p.Ala632Thr)
c.1240G>A (p.Ala414Thr)
c.1684G>A (p.Ala562Thr)
 gnomAD v4
9g.135770428G>CCA375506810KCNT1c.1750G>C (p.Ala584Pro)
c.1591G>C (p.Ala531Pro)
c.1498G>C (p.Ala500Pro)
c.1507G>C (p.Ala503Pro)
c.1651G>C (p.Ala551Pro)
c.*1360G>C (n.*1360G>C)
c.1633G>C (p.Ala545Pro)
c.1693G>C (p.Ala565Pro)
n.1569G>C
c.1615G>C (p.Ala539Pro)
c.1885G>C (p.Ala629Pro)
c.1894G>C (p.Ala632Pro)
c.1240G>C (p.Ala414Pro)
c.1684G>C (p.Ala562Pro)
9g.135770428G>TCA375506809KCNT1c.1750G>T (p.Ala584Ser)
c.1591G>T (p.Ala531Ser)
c.1498G>T (p.Ala500Ser)
c.1507G>T (p.Ala503Ser)
c.1651G>T (p.Ala551Ser)
c.*1360G>T (n.*1360G>T)
c.1633G>T (p.Ala545Ser)
c.1693G>T (p.Ala565Ser)
n.1569G>T
c.1615G>T (p.Ala539Ser)
c.1885G>T (p.Ala629Ser)
c.1894G>T (p.Ala632Ser)
c.1240G>T (p.Ala414Ser)
c.1684G>T (p.Ala562Ser)
9g.135770429C>ACA375506813KCNT1c.1751C>A (p.Ala584Asp)
c.1592C>A (p.Ala531Asp)
c.1499C>A (p.Ala500Asp)
c.1508C>A (p.Ala503Asp)
c.1652C>A (p.Ala551Asp)
c.*1361C>A (n.*1361C>A)
c.1634C>A (p.Ala545Asp)
c.1694C>A (p.Ala565Asp)
n.1570C>A
c.1616C>A (p.Ala539Asp)
c.1886C>A (p.Ala629Asp)
c.1895C>A (p.Ala632Asp)
c.1241C>A (p.Ala414Asp)
c.1685C>A (p.Ala562Asp)
9g.135770429C=CA1883873640KCNT1c.1751C= (p.Ala584=)
c.1592C= (p.Ala531=)
c.1499C= (p.Ala500=)
c.1508C= (p.Ala503=)
c.1652C= (p.Ala551=)
c.*1361C= (n.*1361C=)
c.1634C= (p.Ala545=)
c.1694C= (p.Ala565=)
n.1570C=
c.1616C= (p.Ala539=)
c.1886C= (p.Ala629=)
c.1895C= (p.Ala632=)
c.1241C= (p.Ala414=)
c.1685C= (p.Ala562=)
9g.135770429C>GCA375506815KCNT1c.1751C>G (p.Ala584Gly)
c.1592C>G (p.Ala531Gly)
c.1499C>G (p.Ala500Gly)
c.1508C>G (p.Ala503Gly)
c.1652C>G (p.Ala551Gly)
c.*1361C>G (n.*1361C>G)
c.1634C>G (p.Ala545Gly)
c.1694C>G (p.Ala565Gly)
n.1570C>G
c.1616C>G (p.Ala539Gly)
c.1886C>G (p.Ala629Gly)
c.1895C>G (p.Ala632Gly)
c.1241C>G (p.Ala414Gly)
c.1685C>G (p.Ala562Gly)
9g.135770429C>TCA375506816KCNT1c.1751C>T (p.Ala584Val)
c.1592C>T (p.Ala531Val)
c.1499C>T (p.Ala500Val)
c.1508C>T (p.Ala503Val)
c.1652C>T (p.Ala551Val)
c.*1361C>T (n.*1361C>T)
c.1634C>T (p.Ala545Val)
c.1694C>T (p.Ala565Val)
n.1570C>T
c.1616C>T (p.Ala539Val)
c.1886C>T (p.Ala629Val)
c.1895C>T (p.Ala632Val)
c.1241C>T (p.Ala414Val)
c.1685C>T (p.Ala562Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770430C>ACA467698576KCNT1c.1752C>A (p.Ala584=)
c.1593C>A (p.Ala531=)
c.1500C>A (p.Ala500=)
c.1509C>A (p.Ala503=)
c.1653C>A (p.Ala551=)
c.*1362C>A (n.*1362C>A)
c.1635C>A (p.Ala545=)
c.1695C>A (p.Ala565=)
n.1571C>A
c.1617C>A (p.Ala539=)
c.1887C>A (p.Ala629=)
c.1896C>A (p.Ala632=)
c.1242C>A (p.Ala414=)
c.1686C>A (p.Ala562=)
9g.135770430C=CA1883873645KCNT1c.1752C= (p.Ala584=)
c.1593C= (p.Ala531=)
c.1500C= (p.Ala500=)
c.1509C= (p.Ala503=)
c.1653C= (p.Ala551=)
c.*1362C= (n.*1362C=)
c.1635C= (p.Ala545=)
c.1695C= (p.Ala565=)
n.1571C=
c.1617C= (p.Ala539=)
c.1887C= (p.Ala629=)
c.1896C= (p.Ala632=)
c.1242C= (p.Ala414=)
c.1686C= (p.Ala562=)
9g.135770430C>GCA467698577KCNT1c.1752C>G (p.Ala584=)
c.1593C>G (p.Ala531=)
c.1500C>G (p.Ala500=)
c.1509C>G (p.Ala503=)
c.1653C>G (p.Ala551=)
c.*1362C>G (n.*1362C>G)
c.1635C>G (p.Ala545=)
c.1695C>G (p.Ala565=)
n.1571C>G
c.1617C>G (p.Ala539=)
c.1887C>G (p.Ala629=)
c.1896C>G (p.Ala632=)
c.1242C>G (p.Ala414=)
c.1686C>G (p.Ala562=)
9g.135770430C>TCA5327047KCNT1c.1752C>T (p.Ala584=)
c.1593C>T (p.Ala531=)
c.1500C>T (p.Ala500=)
c.1509C>T (p.Ala503=)
c.1653C>T (p.Ala551=)
c.*1362C>T (n.*1362C>T)
c.1635C>T (p.Ala545=)
c.1695C>T (p.Ala565=)
n.1571C>T
c.1617C>T (p.Ala539=)
c.1887C>T (p.Ala629=)
c.1896C>T (p.Ala632=)
c.1242C>T (p.Ala414=)
c.1686C>T (p.Ala562=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770431T>ACA375506819KCNT1c.1753T>A (p.Phe585Ile)
c.1594T>A (p.Phe532Ile)
c.1501T>A (p.Phe501Ile)
c.1510T>A (p.Phe504Ile)
c.1654T>A (p.Phe552Ile)
c.*1363T>A (n.*1363T>A)
c.1636T>A (p.Phe546Ile)
c.1696T>A (p.Phe566Ile)
n.1572T>A
c.1618T>A (p.Phe540Ile)
c.1888T>A (p.Phe630Ile)
c.1897T>A (p.Phe633Ile)
c.1243T>A (p.Phe415Ile)
c.1687T>A (p.Phe563Ile)
9g.135770431T>CCA375506821KCNT1c.1753T>C (p.Phe585Leu)
c.1594T>C (p.Phe532Leu)
c.1501T>C (p.Phe501Leu)
c.1510T>C (p.Phe504Leu)
c.1654T>C (p.Phe552Leu)
c.*1363T>C (n.*1363T>C)
c.1636T>C (p.Phe546Leu)
c.1696T>C (p.Phe566Leu)
n.1572T>C
c.1618T>C (p.Phe540Leu)
c.1888T>C (p.Phe630Leu)
c.1897T>C (p.Phe633Leu)
c.1243T>C (p.Phe415Leu)
c.1687T>C (p.Phe563Leu)
9g.135770431T>GCA375506823KCNT1c.1753T>G (p.Phe585Val)
c.1594T>G (p.Phe532Val)
c.1501T>G (p.Phe501Val)
c.1510T>G (p.Phe504Val)
c.1654T>G (p.Phe552Val)
c.*1363T>G (n.*1363T>G)
c.1636T>G (p.Phe546Val)
c.1696T>G (p.Phe566Val)
n.1572T>G
c.1618T>G (p.Phe540Val)
c.1888T>G (p.Phe630Val)
c.1897T>G (p.Phe633Val)
c.1243T>G (p.Phe415Val)
c.1687T>G (p.Phe563Val)
9g.135770432T>ACA375506825KCNT1c.1754T>A (p.Phe585Tyr)
c.1595T>A (p.Phe532Tyr)
c.1502T>A (p.Phe501Tyr)
c.1511T>A (p.Phe504Tyr)
c.1655T>A (p.Phe552Tyr)
c.*1364T>A (n.*1364T>A)
c.1637T>A (p.Phe546Tyr)
c.1697T>A (p.Phe566Tyr)
n.1573T>A
c.1619T>A (p.Phe540Tyr)
c.1889T>A (p.Phe630Tyr)
c.1898T>A (p.Phe633Tyr)
c.1244T>A (p.Phe415Tyr)
c.1688T>A (p.Phe563Tyr)
9g.135770432T>CCA375506827KCNT1c.1754T>C (p.Phe585Ser)
c.1595T>C (p.Phe532Ser)
c.1502T>C (p.Phe501Ser)
c.1511T>C (p.Phe504Ser)
c.1655T>C (p.Phe552Ser)
c.*1364T>C (n.*1364T>C)
c.1637T>C (p.Phe546Ser)
c.1697T>C (p.Phe566Ser)
n.1573T>C
c.1619T>C (p.Phe540Ser)
c.1889T>C (p.Phe630Ser)
c.1898T>C (p.Phe633Ser)
c.1244T>C (p.Phe415Ser)
c.1688T>C (p.Phe563Ser)
9g.135770432T>GCA375506829KCNT1c.1754T>G (p.Phe585Cys)
c.1595T>G (p.Phe532Cys)
c.1502T>G (p.Phe501Cys)
c.1511T>G (p.Phe504Cys)
c.1655T>G (p.Phe552Cys)
c.*1364T>G (n.*1364T>G)
c.1637T>G (p.Phe546Cys)
c.1697T>G (p.Phe566Cys)
n.1573T>G
c.1619T>G (p.Phe540Cys)
c.1889T>G (p.Phe630Cys)
c.1898T>G (p.Phe633Cys)
c.1244T>G (p.Phe415Cys)
c.1688T>G (p.Phe563Cys)
9g.135770433C>ACA375506831KCNT1c.1755C>A (p.Phe585Leu)
c.1596C>A (p.Phe532Leu)
c.1503C>A (p.Phe501Leu)
c.1512C>A (p.Phe504Leu)
c.1656C>A (p.Phe552Leu)
c.*1365C>A (n.*1365C>A)
c.1638C>A (p.Phe546Leu)
c.1698C>A (p.Phe566Leu)
n.1574C>A
c.1620C>A (p.Phe540Leu)
c.1890C>A (p.Phe630Leu)
c.1899C>A (p.Phe633Leu)
c.1245C>A (p.Phe415Leu)
c.1689C>A (p.Phe563Leu)
9g.135770433C=CA1883873648KCNT1c.1755C= (p.Phe585=)
c.1596C= (p.Phe532=)
c.1503C= (p.Phe501=)
c.1512C= (p.Phe504=)
c.1656C= (p.Phe552=)
c.*1365C= (n.*1365C=)
c.1638C= (p.Phe546=)
c.1698C= (p.Phe566=)
n.1574C=
c.1620C= (p.Phe540=)
c.1890C= (p.Phe630=)
c.1899C= (p.Phe633=)
c.1245C= (p.Phe415=)
c.1689C= (p.Phe563=)
9g.135770433C>GCA375506833KCNT1c.1755C>G (p.Phe585Leu)
c.1596C>G (p.Phe532Leu)
c.1503C>G (p.Phe501Leu)
c.1512C>G (p.Phe504Leu)
c.1656C>G (p.Phe552Leu)
c.*1365C>G (n.*1365C>G)
c.1638C>G (p.Phe546Leu)
c.1698C>G (p.Phe566Leu)
n.1574C>G
c.1620C>G (p.Phe540Leu)
c.1890C>G (p.Phe630Leu)
c.1899C>G (p.Phe633Leu)
c.1245C>G (p.Phe415Leu)
c.1689C>G (p.Phe563Leu)
 dbSNP
9g.135770433C>TCA467698581KCNT1c.1755C>T (p.Phe585=)
c.1596C>T (p.Phe532=)
c.1503C>T (p.Phe501=)
c.1512C>T (p.Phe504=)
c.1656C>T (p.Phe552=)
c.*1365C>T (n.*1365C>T)
c.1638C>T (p.Phe546=)
c.1698C>T (p.Phe566=)
n.1574C>T
c.1620C>T (p.Phe540=)
c.1890C>T (p.Phe630=)
c.1899C>T (p.Phe633=)
c.1245C>T (p.Phe415=)
c.1689C>T (p.Phe563=)
 gnomAD v4
9g.135770434C>ACA375506835KCNT1c.1756C>A (p.His586Asn)
c.1597C>A (p.His533Asn)
c.1504C>A (p.His502Asn)
c.1513C>A (p.His505Asn)
c.1657C>A (p.His553Asn)
c.*1366C>A (n.*1366C>A)
c.1639C>A (p.His547Asn)
c.1699C>A (p.His567Asn)
n.1575C>A
c.1621C>A (p.His541Asn)
c.1891C>A (p.His631Asn)
c.1900C>A (p.His634Asn)
c.1246C>A (p.His416Asn)
c.1690C>A (p.His564Asn)
 gnomAD v4
9g.135770434C>GCA375506838KCNT1c.1756C>G (p.His586Asp)
c.1597C>G (p.His533Asp)
c.1504C>G (p.His502Asp)
c.1513C>G (p.His505Asp)
c.1657C>G (p.His553Asp)
c.*1366C>G (n.*1366C>G)
c.1639C>G (p.His547Asp)
c.1699C>G (p.His567Asp)
n.1575C>G
c.1621C>G (p.His541Asp)
c.1891C>G (p.His631Asp)
c.1900C>G (p.His634Asp)
c.1246C>G (p.His416Asp)
c.1690C>G (p.His564Asp)
9g.135770434C>TCA375506834KCNT1c.1756C>T (p.His586Tyr)
c.1597C>T (p.His533Tyr)
c.1504C>T (p.His502Tyr)
c.1513C>T (p.His505Tyr)
c.1657C>T (p.His553Tyr)
c.*1366C>T (n.*1366C>T)
c.1639C>T (p.His547Tyr)
c.1699C>T (p.His567Tyr)
n.1575C>T
c.1621C>T (p.His541Tyr)
c.1891C>T (p.His631Tyr)
c.1900C>T (p.His634Tyr)
c.1246C>T (p.His416Tyr)
c.1690C>T (p.His564Tyr)
9g.135770435A>CCA375506841KCNT1c.1757A>C (p.His586Pro)
c.1598A>C (p.His533Pro)
c.1505A>C (p.His502Pro)
c.1514A>C (p.His505Pro)
c.1658A>C (p.His553Pro)
c.*1367A>C (n.*1367A>C)
c.1640A>C (p.His547Pro)
c.1700A>C (p.His567Pro)
n.1576A>C
c.1622A>C (p.His541Pro)
c.1892A>C (p.His631Pro)
c.1901A>C (p.His634Pro)
c.1247A>C (p.His416Pro)
c.1691A>C (p.His564Pro)
9g.135770435A>GCA375506842KCNT1c.1757A>G (p.His586Arg)
c.1598A>G (p.His533Arg)
c.1505A>G (p.His502Arg)
c.1514A>G (p.His505Arg)
c.1658A>G (p.His553Arg)
c.*1367A>G (n.*1367A>G)
c.1640A>G (p.His547Arg)
c.1700A>G (p.His567Arg)
n.1576A>G
c.1622A>G (p.His541Arg)
c.1892A>G (p.His631Arg)
c.1901A>G (p.His634Arg)
c.1247A>G (p.His416Arg)
c.1691A>G (p.His564Arg)
 gnomAD v4
9g.135770435A>TCA375506844KCNT1c.1757A>T (p.His586Leu)
c.1598A>T (p.His533Leu)
c.1505A>T (p.His502Leu)
c.1514A>T (p.His505Leu)
c.1658A>T (p.His553Leu)
c.*1367A>T (n.*1367A>T)
c.1640A>T (p.His547Leu)
c.1700A>T (p.His567Leu)
n.1576A>T
c.1622A>T (p.His541Leu)
c.1892A>T (p.His631Leu)
c.1901A>T (p.His634Leu)
c.1247A>T (p.His416Leu)
c.1691A>T (p.His564Leu)
9g.135770436C>ACA375506846KCNT1c.1758C>A (p.His586Gln)
c.1599C>A (p.His533Gln)
c.1506C>A (p.His502Gln)
c.1515C>A (p.His505Gln)
c.1659C>A (p.His553Gln)
c.*1368C>A (n.*1368C>A)
c.1641C>A (p.His547Gln)
c.1701C>A (p.His567Gln)
n.1577C>A
c.1623C>A (p.His541Gln)
c.1893C>A (p.His631Gln)
c.1902C>A (p.His634Gln)
c.1248C>A (p.His416Gln)
c.1692C>A (p.His564Gln)
 ClinVar dbSNP gnomAD v4
9g.135770436C=CA1883873651KCNT1c.1758C= (p.His586=)
c.1599C= (p.His533=)
c.1506C= (p.His502=)
c.1515C= (p.His505=)
c.1659C= (p.His553=)
c.*1368C= (n.*1368C=)
c.1641C= (p.His547=)
c.1701C= (p.His567=)
n.1577C=
c.1623C= (p.His541=)
c.1893C= (p.His631=)
c.1902C= (p.His634=)
c.1248C= (p.His416=)
c.1692C= (p.His564=)
9g.135770436C>GCA375506848KCNT1c.1758C>G (p.His586Gln)
c.1599C>G (p.His533Gln)
c.1506C>G (p.His502Gln)
c.1515C>G (p.His505Gln)
c.1659C>G (p.His553Gln)
c.*1368C>G (n.*1368C>G)
c.1641C>G (p.His547Gln)
c.1701C>G (p.His567Gln)
n.1577C>G
c.1623C>G (p.His541Gln)
c.1893C>G (p.His631Gln)
c.1902C>G (p.His634Gln)
c.1248C>G (p.His416Gln)
c.1692C>G (p.His564Gln)
9g.135770436C>TCA5327048KCNT1c.1758C>T (p.His586=)
c.1599C>T (p.His533=)
c.1506C>T (p.His502=)
c.1515C>T (p.His505=)
c.1659C>T (p.His553=)
c.*1368C>T (n.*1368C>T)
c.1641C>T (p.His547=)
c.1701C>T (p.His567=)
n.1577C>T
c.1623C>T (p.His541=)
c.1893C>T (p.His631=)
c.1902C>T (p.His634=)
c.1248C>T (p.His416=)
c.1692C>T (p.His564=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770437G>ACA5327049KCNT1c.1759G>A (p.Ala587Thr)
c.1600G>A (p.Ala534Thr)
c.1507G>A (p.Ala503Thr)
c.1516G>A (p.Ala506Thr)
c.1660G>A (p.Ala554Thr)
c.*1369G>A (n.*1369G>A)
c.1642G>A (p.Ala548Thr)
c.1702G>A (p.Ala568Thr)
n.1578G>A
c.1624G>A (p.Ala542Thr)
c.1894G>A (p.Ala632Thr)
c.1903G>A (p.Ala635Thr)
c.1249G>A (p.Ala417Thr)
c.1693G>A (p.Ala565Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770437G>CCA375506852KCNT1c.1759G>C (p.Ala587Pro)
c.1600G>C (p.Ala534Pro)
c.1507G>C (p.Ala503Pro)
c.1516G>C (p.Ala506Pro)
c.1660G>C (p.Ala554Pro)
c.*1369G>C (n.*1369G>C)
c.1642G>C (p.Ala548Pro)
c.1702G>C (p.Ala568Pro)
n.1578G>C
c.1624G>C (p.Ala542Pro)
c.1894G>C (p.Ala632Pro)
c.1903G>C (p.Ala635Pro)
c.1249G>C (p.Ala417Pro)
c.1693G>C (p.Ala565Pro)
9g.135770437G=CA1883873655KCNT1c.1759G= (p.Ala587=)
c.1600G= (p.Ala534=)
c.1507G= (p.Ala503=)
c.1516G= (p.Ala506=)
c.1660G= (p.Ala554=)
c.*1369G= (n.*1369G=)
c.1642G= (p.Ala548=)
c.1702G= (p.Ala568=)
n.1578G=
c.1624G= (p.Ala542=)
c.1894G= (p.Ala632=)
c.1903G= (p.Ala635=)
c.1249G= (p.Ala417=)
c.1693G= (p.Ala565=)
9g.135770437G>TCA375506853KCNT1c.1759G>T (p.Ala587Ser)
c.1600G>T (p.Ala534Ser)
c.1507G>T (p.Ala503Ser)
c.1516G>T (p.Ala506Ser)
c.1660G>T (p.Ala554Ser)
c.*1369G>T (n.*1369G>T)
c.1642G>T (p.Ala548Ser)
c.1702G>T (p.Ala568Ser)
n.1578G>T
c.1624G>T (p.Ala542Ser)
c.1894G>T (p.Ala632Ser)
c.1903G>T (p.Ala635Ser)
c.1249G>T (p.Ala417Ser)
c.1693G>T (p.Ala565Ser)
 gnomAD v4
9g.135770438C>ACA375506856KCNT1c.1760C>A (p.Ala587Asp)
c.1601C>A (p.Ala534Asp)
c.1508C>A (p.Ala503Asp)
c.1517C>A (p.Ala506Asp)
c.1661C>A (p.Ala554Asp)
c.*1370C>A (n.*1370C>A)
c.1643C>A (p.Ala548Asp)
c.1703C>A (p.Ala568Asp)
n.1579C>A
c.1625C>A (p.Ala542Asp)
c.1895C>A (p.Ala632Asp)
c.1904C>A (p.Ala635Asp)
c.1250C>A (p.Ala417Asp)
c.1694C>A (p.Ala565Asp)
 gnomAD v4
9g.135770438C>GCA375506857KCNT1c.1760C>G (p.Ala587Gly)
c.1601C>G (p.Ala534Gly)
c.1508C>G (p.Ala503Gly)
c.1517C>G (p.Ala506Gly)
c.1661C>G (p.Ala554Gly)
c.*1370C>G (n.*1370C>G)
c.1643C>G (p.Ala548Gly)
c.1703C>G (p.Ala568Gly)
n.1579C>G
c.1625C>G (p.Ala542Gly)
c.1895C>G (p.Ala632Gly)
c.1904C>G (p.Ala635Gly)
c.1250C>G (p.Ala417Gly)
c.1694C>G (p.Ala565Gly)
9g.135770438C>TCA375506859KCNT1c.1760C>T (p.Ala587Val)
c.1601C>T (p.Ala534Val)
c.1508C>T (p.Ala503Val)
c.1517C>T (p.Ala506Val)
c.1661C>T (p.Ala554Val)
c.*1370C>T (n.*1370C>T)
c.1643C>T (p.Ala548Val)
c.1703C>T (p.Ala568Val)
n.1579C>T
c.1625C>T (p.Ala542Val)
c.1895C>T (p.Ala632Val)
c.1904C>T (p.Ala635Val)
c.1250C>T (p.Ala417Val)
c.1694C>T (p.Ala565Val)
 ClinVar dbSNP
9g.135770439C>ACA467698586KCNT1c.1761C>A (p.Ala587=)
c.1602C>A (p.Ala534=)
c.1509C>A (p.Ala503=)
c.1518C>A (p.Ala506=)
c.1662C>A (p.Ala554=)
c.*1371C>A (n.*1371C>A)
c.1644C>A (p.Ala548=)
c.1704C>A (p.Ala568=)
n.1580C>A
c.1626C>A (p.Ala542=)
c.1896C>A (p.Ala632=)
c.1905C>A (p.Ala635=)
c.1251C>A (p.Ala417=)
c.1695C>A (p.Ala565=)
 gnomAD v4
9g.135770439C>GCA467698587KCNT1c.1761C>G (p.Ala587=)
c.1602C>G (p.Ala534=)
c.1509C>G (p.Ala503=)
c.1518C>G (p.Ala506=)
c.1662C>G (p.Ala554=)
c.*1371C>G (n.*1371C>G)
c.1644C>G (p.Ala548=)
c.1704C>G (p.Ala568=)
n.1580C>G
c.1626C>G (p.Ala542=)
c.1896C>G (p.Ala632=)
c.1905C>G (p.Ala635=)
c.1251C>G (p.Ala417=)
c.1695C>G (p.Ala565=)
9g.135770439C>TCA467698588KCNT1c.1761C>T (p.Ala587=)
c.1602C>T (p.Ala534=)
c.1509C>T (p.Ala503=)
c.1518C>T (p.Ala506=)
c.1662C>T (p.Ala554=)
c.*1371C>T (n.*1371C>T)
c.1644C>T (p.Ala548=)
c.1704C>T (p.Ala568=)
n.1580C>T
c.1626C>T (p.Ala542=)
c.1896C>T (p.Ala632=)
c.1905C>T (p.Ala635=)
c.1251C>T (p.Ala417=)
c.1695C>T (p.Ala565=)
9g.135770440C>ACA375506863KCNT1c.1762C>A (p.His588Asn)
c.1603C>A (p.His535Asn)
c.1510C>A (p.His504Asn)
c.1519C>A (p.His507Asn)
c.1663C>A (p.His555Asn)
c.*1372C>A (n.*1372C>A)
c.1645C>A (p.His549Asn)
c.1705C>A (p.His569Asn)
n.1581C>A
c.1627C>A (p.His543Asn)
c.1897C>A (p.His633Asn)
c.1906C>A (p.His636Asn)
c.1252C>A (p.His418Asn)
c.1696C>A (p.His566Asn)
 gnomAD v4
9g.135770440C=CA1883873661KCNT1c.1762C= (p.His588=)
c.1603C= (p.His535=)
c.1510C= (p.His504=)
c.1519C= (p.His507=)
c.1663C= (p.His555=)
c.*1372C= (n.*1372C=)
c.1645C= (p.His549=)
c.1705C= (p.His569=)
n.1581C=
c.1627C= (p.His543=)
c.1897C= (p.His633=)
c.1906C= (p.His636=)
c.1252C= (p.His418=)
c.1696C= (p.His566=)
9g.135770440C>GCA375506861KCNT1c.1762C>G (p.His588Asp)
c.1603C>G (p.His535Asp)
c.1510C>G (p.His504Asp)
c.1519C>G (p.His507Asp)
c.1663C>G (p.His555Asp)
c.*1372C>G (n.*1372C>G)
c.1645C>G (p.His549Asp)
c.1705C>G (p.His569Asp)
n.1581C>G
c.1627C>G (p.His543Asp)
c.1897C>G (p.His633Asp)
c.1906C>G (p.His636Asp)
c.1252C>G (p.His418Asp)
c.1696C>G (p.His566Asp)
9g.135770440C>TCA375506862KCNT1c.1762C>T (p.His588Tyr)
c.1603C>T (p.His535Tyr)
c.1510C>T (p.His504Tyr)
c.1519C>T (p.His507Tyr)
c.1663C>T (p.His555Tyr)
c.*1372C>T (n.*1372C>T)
c.1645C>T (p.His549Tyr)
c.1705C>T (p.His569Tyr)
n.1581C>T
c.1627C>T (p.His543Tyr)
c.1897C>T (p.His633Tyr)
c.1906C>T (p.His636Tyr)
c.1252C>T (p.His418Tyr)
c.1696C>T (p.His566Tyr)
 ClinVar dbSNP
9g.135770441A=CA1883873666KCNT1c.1763A= (p.His588=)
c.1604A= (p.His535=)
c.1511A= (p.His504=)
c.1520A= (p.His507=)
c.1664A= (p.His555=)
c.*1373A= (n.*1373A=)
c.1646A= (p.His549=)
c.1706A= (p.His569=)
n.1582A=
c.1628A= (p.His543=)
c.1898A= (p.His633=)
c.1907A= (p.His636=)
c.1253A= (p.His418=)
c.1697A= (p.His566=)
9g.135770441A>CCA375506864KCNT1c.1763A>C (p.His588Pro)
c.1604A>C (p.His535Pro)
c.1511A>C (p.His504Pro)
c.1520A>C (p.His507Pro)
c.1664A>C (p.His555Pro)
c.*1373A>C (n.*1373A>C)
c.1646A>C (p.His549Pro)
c.1706A>C (p.His569Pro)
n.1582A>C
c.1628A>C (p.His543Pro)
c.1898A>C (p.His633Pro)
c.1907A>C (p.His636Pro)
c.1253A>C (p.His418Pro)
c.1697A>C (p.His566Pro)
9g.135770441A>GCA375506866KCNT1c.1763A>G (p.His588Arg)
c.1604A>G (p.His535Arg)
c.1511A>G (p.His504Arg)
c.1520A>G (p.His507Arg)
c.1664A>G (p.His555Arg)
c.*1373A>G (n.*1373A>G)
c.1646A>G (p.His549Arg)
c.1706A>G (p.His569Arg)
n.1582A>G
c.1628A>G (p.His543Arg)
c.1898A>G (p.His633Arg)
c.1907A>G (p.His636Arg)
c.1253A>G (p.His418Arg)
c.1697A>G (p.His566Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770441A>TCA375506868KCNT1c.1763A>T (p.His588Leu)
c.1604A>T (p.His535Leu)
c.1511A>T (p.His504Leu)
c.1520A>T (p.His507Leu)
c.1664A>T (p.His555Leu)
c.*1373A>T (n.*1373A>T)
c.1646A>T (p.His549Leu)
c.1706A>T (p.His569Leu)
n.1582A>T
c.1628A>T (p.His543Leu)
c.1898A>T (p.His633Leu)
c.1907A>T (p.His636Leu)
c.1253A>T (p.His418Leu)
c.1697A>T (p.His566Leu)
9g.135770442C>ACA375506870KCNT1c.1764C>A (p.His588Gln)
c.1605C>A (p.His535Gln)
c.1512C>A (p.His504Gln)
c.1521C>A (p.His507Gln)
c.1665C>A (p.His555Gln)
c.*1374C>A (n.*1374C>A)
c.1647C>A (p.His549Gln)
c.1707C>A (p.His569Gln)
n.1583C>A
c.1629C>A (p.His543Gln)
c.1899C>A (p.His633Gln)
c.1908C>A (p.His636Gln)
c.1254C>A (p.His418Gln)
c.1698C>A (p.His566Gln)
9g.135770442C>GCA375506871KCNT1c.1764C>G (p.His588Gln)
c.1605C>G (p.His535Gln)
c.1512C>G (p.His504Gln)
c.1521C>G (p.His507Gln)
c.1665C>G (p.His555Gln)
c.*1374C>G (n.*1374C>G)
c.1647C>G (p.His549Gln)
c.1707C>G (p.His569Gln)
n.1583C>G
c.1629C>G (p.His543Gln)
c.1899C>G (p.His633Gln)
c.1908C>G (p.His636Gln)
c.1254C>G (p.His418Gln)
c.1698C>G (p.His566Gln)
9g.135770442C>TCA467698590KCNT1c.1764C>T (p.His588=)
c.1605C>T (p.His535=)
c.1512C>T (p.His504=)
c.1521C>T (p.His507=)
c.1665C>T (p.His555=)
c.*1374C>T (n.*1374C>T)
c.1647C>T (p.His549=)
c.1707C>T (p.His569=)
n.1583C>T
c.1629C>T (p.His543=)
c.1899C>T (p.His633=)
c.1908C>T (p.His636=)
c.1254C>T (p.His418=)
c.1698C>T (p.His566=)
 ClinVar gnomAD v4
9g.135770443A>CCA375506874KCNT1c.1765A>C (p.Lys589Gln)
c.1606A>C (p.Lys536Gln)
c.1513A>C (p.Lys505Gln)
c.1522A>C (p.Lys508Gln)
c.1666A>C (p.Lys556Gln)
c.*1375A>C (n.*1375A>C)
c.1648A>C (p.Lys550Gln)
c.1708A>C (p.Lys570Gln)
n.1584A>C
c.1630A>C (p.Lys544Gln)
c.1900A>C (p.Lys634Gln)
c.1909A>C (p.Lys637Gln)
c.1255A>C (p.Lys419Gln)
c.1699A>C (p.Lys567Gln)
9g.135770443A>GCA375506875KCNT1c.1765A>G (p.Lys589Glu)
c.1606A>G (p.Lys536Glu)
c.1513A>G (p.Lys505Glu)
c.1522A>G (p.Lys508Glu)
c.1666A>G (p.Lys556Glu)
c.*1375A>G (n.*1375A>G)
c.1648A>G (p.Lys550Glu)
c.1708A>G (p.Lys570Glu)
n.1584A>G
c.1630A>G (p.Lys544Glu)
c.1900A>G (p.Lys634Glu)
c.1909A>G (p.Lys637Glu)
c.1255A>G (p.Lys419Glu)
c.1699A>G (p.Lys567Glu)
 gnomAD v4
9g.135770443A>TCA375506876KCNT1c.1765A>T (p.Lys589Ter)
c.1606A>T (p.Lys536Ter)
c.1513A>T (p.Lys505Ter)
c.1522A>T (p.Lys508Ter)
c.1666A>T (p.Lys556Ter)
c.*1375A>T (n.*1375A>T)
c.1648A>T (p.Lys550Ter)
c.1708A>T (p.Lys570Ter)
n.1584A>T
c.1630A>T (p.Lys544Ter)
c.1900A>T (p.Lys634Ter)
c.1909A>T (p.Lys637Ter)
c.1255A>T (p.Lys419Ter)
c.1699A>T (p.Lys567Ter)
9g.135770444A=CA1883873670KCNT1c.1766A= (p.Lys589=)
c.1607A= (p.Lys536=)
c.1514A= (p.Lys505=)
c.1523A= (p.Lys508=)
c.1667A= (p.Lys556=)
c.*1376A= (n.*1376A=)
c.1649A= (p.Lys550=)
c.1709A= (p.Lys570=)
n.1585A=
c.1631A= (p.Lys544=)
c.1901A= (p.Lys634=)
c.1910A= (p.Lys637=)
c.1256A= (p.Lys419=)
c.1700A= (p.Lys567=)
9g.135770444A>CCA375506878KCNT1c.1766A>C (p.Lys589Thr)
c.1607A>C (p.Lys536Thr)
c.1514A>C (p.Lys505Thr)
c.1523A>C (p.Lys508Thr)
c.1667A>C (p.Lys556Thr)
c.*1376A>C (n.*1376A>C)
c.1649A>C (p.Lys550Thr)
c.1709A>C (p.Lys570Thr)
n.1585A>C
c.1631A>C (p.Lys544Thr)
c.1901A>C (p.Lys634Thr)
c.1910A>C (p.Lys637Thr)
c.1256A>C (p.Lys419Thr)
c.1700A>C (p.Lys567Thr)
9g.135770444A>GCA375506880KCNT1c.1766A>G (p.Lys589Arg)
c.1607A>G (p.Lys536Arg)
c.1514A>G (p.Lys505Arg)
c.1523A>G (p.Lys508Arg)
c.1667A>G (p.Lys556Arg)
c.*1376A>G (n.*1376A>G)
c.1649A>G (p.Lys550Arg)
c.1709A>G (p.Lys570Arg)
n.1585A>G
c.1631A>G (p.Lys544Arg)
c.1901A>G (p.Lys634Arg)
c.1910A>G (p.Lys637Arg)
c.1256A>G (p.Lys419Arg)
c.1700A>G (p.Lys567Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770444A>TCA375506881KCNT1c.1766A>T (p.Lys589Met)
c.1607A>T (p.Lys536Met)
c.1514A>T (p.Lys505Met)
c.1523A>T (p.Lys508Met)
c.1667A>T (p.Lys556Met)
c.*1376A>T (n.*1376A>T)
c.1649A>T (p.Lys550Met)
c.1709A>T (p.Lys570Met)
n.1585A>T
c.1631A>T (p.Lys544Met)
c.1901A>T (p.Lys634Met)
c.1910A>T (p.Lys637Met)
c.1256A>T (p.Lys419Met)
c.1700A>T (p.Lys567Met)
9g.135770445G>ACA467698592KCNT1c.1767G>A (p.Lys589=)
c.1608G>A (p.Lys536=)
c.1515G>A (p.Lys505=)
c.1524G>A (p.Lys508=)
c.1668G>A (p.Lys556=)
c.*1377G>A (n.*1377G>A)
c.1650G>A (p.Lys550=)
c.1710G>A (p.Lys570=)
n.1586G>A
c.1632G>A (p.Lys544=)
c.1902G>A (p.Lys634=)
c.1911G>A (p.Lys637=)
c.1257G>A (p.Lys419=)
c.1701G>A (p.Lys567=)
9g.135770445G>CCA375506883KCNT1c.1767G>C (p.Lys589Asn)
c.1608G>C (p.Lys536Asn)
c.1515G>C (p.Lys505Asn)
c.1524G>C (p.Lys508Asn)
c.1668G>C (p.Lys556Asn)
c.*1377G>C (n.*1377G>C)
c.1650G>C (p.Lys550Asn)
c.1710G>C (p.Lys570Asn)
n.1586G>C
c.1632G>C (p.Lys544Asn)
c.1902G>C (p.Lys634Asn)
c.1911G>C (p.Lys637Asn)
c.1257G>C (p.Lys419Asn)
c.1701G>C (p.Lys567Asn)
9g.135770445G>TCA375506885KCNT1c.1767G>T (p.Lys589Asn)
c.1608G>T (p.Lys536Asn)
c.1515G>T (p.Lys505Asn)
c.1524G>T (p.Lys508Asn)
c.1668G>T (p.Lys556Asn)
c.*1377G>T (n.*1377G>T)
c.1650G>T (p.Lys550Asn)
c.1710G>T (p.Lys570Asn)
n.1586G>T
c.1632G>T (p.Lys544Asn)
c.1902G>T (p.Lys634Asn)
c.1911G>T (p.Lys637Asn)
c.1257G>T (p.Lys419Asn)
c.1701G>T (p.Lys567Asn)
9g.135770445_135770449delinsGAAGTCA1883873673KCNT1c.1767_1769+2delinsGAAGT
c.1608_1610+2delinsGAAGT
c.1515_1517+2delinsGAAGT
c.1524_1526+2delinsGAAGT
c.1668_1670+2delinsGAAGT
c.*1377_*1379+2delinsGAAGT
c.1650_1652+2delinsGAAGT
c.1710_1712+2delinsGAAGT
n.1586_1588+2delinsGAAGT
c.1632_1634+2delinsGAAGT
c.1902_1904+2delinsGAAGT
c.1911_1913+2delinsGAAGT
c.1257_1259+2delinsGAAGT
c.1701_1703+2delinsGAAGT

Number of alleles fetched