Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135770296A>CCA375506063KCNT1c.1620-2A>C (n.1620-2A>C)
c.1461-2A>C (n.1461-2A>C)
c.1368-2A>C (n.1368-2A>C)
c.1377-2A>C (n.1377-2A>C)
c.1521-2A>C (n.1521-2A>C)
c.*1230-2A>C (n.*1230-2A>C)
c.1503-2A>C (n.1503-2A>C)
c.1563-2A>C (n.1563-2A>C)
n.1439-2A>C
c.1485-2A>C (n.1485-2A>C)
c.1755-2A>C (n.1755-2A>C)
c.1764-2A>C (n.1764-2A>C)
c.1110-2A>C (n.1110-2A>C)
c.1554-2A>C (n.1554-2A>C)
9g.135770296A>GCA375506064KCNT1c.1620-2A>G (n.1620-2A>G)
c.1461-2A>G (n.1461-2A>G)
c.1368-2A>G (n.1368-2A>G)
c.1377-2A>G (n.1377-2A>G)
c.1521-2A>G (n.1521-2A>G)
c.*1230-2A>G (n.*1230-2A>G)
c.1503-2A>G (n.1503-2A>G)
c.1563-2A>G (n.1563-2A>G)
n.1439-2A>G
c.1485-2A>G (n.1485-2A>G)
c.1755-2A>G (n.1755-2A>G)
c.1764-2A>G (n.1764-2A>G)
c.1110-2A>G (n.1110-2A>G)
c.1554-2A>G (n.1554-2A>G)
9g.135770296A>TCA375506065KCNT1c.1620-2A>T (n.1620-2A>T)
c.1461-2A>T (n.1461-2A>T)
c.1368-2A>T (n.1368-2A>T)
c.1377-2A>T (n.1377-2A>T)
c.1521-2A>T (n.1521-2A>T)
c.*1230-2A>T (n.*1230-2A>T)
c.1503-2A>T (n.1503-2A>T)
c.1563-2A>T (n.1563-2A>T)
n.1439-2A>T
c.1485-2A>T (n.1485-2A>T)
c.1755-2A>T (n.1755-2A>T)
c.1764-2A>T (n.1764-2A>T)
c.1110-2A>T (n.1110-2A>T)
c.1554-2A>T (n.1554-2A>T)
9g.135770297G>ACA375506066KCNT1c.1620-1G>A (n.1620-1G>A)
c.1461-1G>A (n.1461-1G>A)
c.1368-1G>A (n.1368-1G>A)
c.1377-1G>A (n.1377-1G>A)
c.1521-1G>A (n.1521-1G>A)
c.*1230-1G>A (n.*1230-1G>A)
c.1503-1G>A (n.1503-1G>A)
c.1563-1G>A (n.1563-1G>A)
n.1439-1G>A
c.1485-1G>A (n.1485-1G>A)
c.1755-1G>A (n.1755-1G>A)
c.1764-1G>A (n.1764-1G>A)
c.1110-1G>A (n.1110-1G>A)
c.1554-1G>A (n.1554-1G>A)
 gnomAD v4
9g.135770297G>CCA375506067KCNT1c.1620-1G>C (n.1620-1G>C)
c.1461-1G>C (n.1461-1G>C)
c.1368-1G>C (n.1368-1G>C)
c.1377-1G>C (n.1377-1G>C)
c.1521-1G>C (n.1521-1G>C)
c.*1230-1G>C (n.*1230-1G>C)
c.1503-1G>C (n.1503-1G>C)
c.1563-1G>C (n.1563-1G>C)
n.1439-1G>C
c.1485-1G>C (n.1485-1G>C)
c.1755-1G>C (n.1755-1G>C)
c.1764-1G>C (n.1764-1G>C)
c.1110-1G>C (n.1110-1G>C)
c.1554-1G>C (n.1554-1G>C)
9g.135770297G>TCA375506068KCNT1c.1620-1G>T (n.1620-1G>T)
c.1461-1G>T (n.1461-1G>T)
c.1368-1G>T (n.1368-1G>T)
c.1377-1G>T (n.1377-1G>T)
c.1521-1G>T (n.1521-1G>T)
c.*1230-1G>T (n.*1230-1G>T)
c.1503-1G>T (n.1503-1G>T)
c.1563-1G>T (n.1563-1G>T)
n.1439-1G>T
c.1485-1G>T (n.1485-1G>T)
c.1755-1G>T (n.1755-1G>T)
c.1764-1G>T (n.1764-1G>T)
c.1110-1G>T (n.1110-1G>T)
c.1554-1G>T (n.1554-1G>T)
9g.135770298G>ACA467698494KCNT1c.1620G>A (p.Gln540=)
c.1461G>A (p.Gln487=)
c.1368G>A (p.Gln456=)
c.1377G>A (p.Gln459=)
c.1521G>A (p.Gln507=)
c.*1230G>A (n.*1230G>A)
c.1503G>A (p.Gln501=)
c.1563G>A (p.Gln521=)
n.1439G>A
c.1485G>A (p.Gln495=)
c.1755G>A (p.Gln585=)
c.1764G>A (p.Gln588=)
c.1110G>A (p.Gln370=)
c.1554G>A (p.Gln518=)
9g.135770298G>CCA375506069KCNT1c.1620G>C (p.Gln540His)
c.1461G>C (p.Gln487His)
c.1368G>C (p.Gln456His)
c.1377G>C (p.Gln459His)
c.1521G>C (p.Gln507His)
c.*1230G>C (n.*1230G>C)
c.1503G>C (p.Gln501His)
c.1563G>C (p.Gln521His)
n.1439G>C
c.1485G>C (p.Gln495His)
c.1755G>C (p.Gln585His)
c.1764G>C (p.Gln588His)
c.1110G>C (p.Gln370His)
c.1554G>C (p.Gln518His)
9g.135770298G>TCA375506070KCNT1c.1620G>T (p.Gln540His)
c.1461G>T (p.Gln487His)
c.1368G>T (p.Gln456His)
c.1377G>T (p.Gln459His)
c.1521G>T (p.Gln507His)
c.*1230G>T (n.*1230G>T)
c.1503G>T (p.Gln501His)
c.1563G>T (p.Gln521His)
n.1439G>T
c.1485G>T (p.Gln495His)
c.1755G>T (p.Gln585His)
c.1764G>T (p.Gln588His)
c.1110G>T (p.Gln370His)
c.1554G>T (p.Gln518His)
9g.135770299G>ACA5327011KCNT1c.1621G>A (p.Glu541Lys)
c.1462G>A (p.Glu488Lys)
c.1369G>A (p.Glu457Lys)
c.1378G>A (p.Glu460Lys)
c.1522G>A (p.Glu508Lys)
c.*1231G>A (n.*1231G>A)
c.1504G>A (p.Glu502Lys)
c.1564G>A (p.Glu522Lys)
n.1440G>A
c.1486G>A (p.Glu496Lys)
c.1756G>A (p.Glu586Lys)
c.1765G>A (p.Glu589Lys)
c.1111G>A (p.Glu371Lys)
c.1555G>A (p.Glu519Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770299G>CCA375506072KCNT1c.1621G>C (p.Glu541Gln)
c.1462G>C (p.Glu488Gln)
c.1369G>C (p.Glu457Gln)
c.1378G>C (p.Glu460Gln)
c.1522G>C (p.Glu508Gln)
c.*1231G>C (n.*1231G>C)
c.1504G>C (p.Glu502Gln)
c.1564G>C (p.Glu522Gln)
n.1440G>C
c.1486G>C (p.Glu496Gln)
c.1756G>C (p.Glu586Gln)
c.1765G>C (p.Glu589Gln)
c.1111G>C (p.Glu371Gln)
c.1555G>C (p.Glu519Gln)
9g.135770299G=CA1883873234KCNT1c.1621G= (p.Glu541=)
c.1462G= (p.Glu488=)
c.1369G= (p.Glu457=)
c.1378G= (p.Glu460=)
c.1522G= (p.Glu508=)
c.*1231G= (n.*1231G=)
c.1504G= (p.Glu502=)
c.1564G= (p.Glu522=)
n.1440G=
c.1486G= (p.Glu496=)
c.1756G= (p.Glu586=)
c.1765G= (p.Glu589=)
c.1111G= (p.Glu371=)
c.1555G= (p.Glu519=)
9g.135770299G>TCA375506075KCNT1c.1621G>T (p.Glu541Ter)
c.1462G>T (p.Glu488Ter)
c.1369G>T (p.Glu457Ter)
c.1378G>T (p.Glu460Ter)
c.1522G>T (p.Glu508Ter)
c.*1231G>T (n.*1231G>T)
c.1504G>T (p.Glu502Ter)
c.1564G>T (p.Glu522Ter)
n.1440G>T
c.1486G>T (p.Glu496Ter)
c.1756G>T (p.Glu586Ter)
c.1765G>T (p.Glu589Ter)
c.1111G>T (p.Glu371Ter)
c.1555G>T (p.Glu519Ter)
9g.135770300A>CCA375506079KCNT1c.1622A>C (p.Glu541Ala)
c.1463A>C (p.Glu488Ala)
c.1370A>C (p.Glu457Ala)
c.1379A>C (p.Glu460Ala)
c.1523A>C (p.Glu508Ala)
c.*1232A>C (n.*1232A>C)
c.1505A>C (p.Glu502Ala)
c.1565A>C (p.Glu522Ala)
n.1441A>C
c.1487A>C (p.Glu496Ala)
c.1757A>C (p.Glu586Ala)
c.1766A>C (p.Glu589Ala)
c.1112A>C (p.Glu371Ala)
c.1556A>C (p.Glu519Ala)
9g.135770300A>GCA375506082KCNT1c.1622A>G (p.Glu541Gly)
c.1463A>G (p.Glu488Gly)
c.1370A>G (p.Glu457Gly)
c.1379A>G (p.Glu460Gly)
c.1523A>G (p.Glu508Gly)
c.*1232A>G (n.*1232A>G)
c.1505A>G (p.Glu502Gly)
c.1565A>G (p.Glu522Gly)
n.1441A>G
c.1487A>G (p.Glu496Gly)
c.1757A>G (p.Glu586Gly)
c.1766A>G (p.Glu589Gly)
c.1112A>G (p.Glu371Gly)
c.1556A>G (p.Glu519Gly)
9g.135770300A>TCA375506080KCNT1c.1622A>T (p.Glu541Val)
c.1463A>T (p.Glu488Val)
c.1370A>T (p.Glu457Val)
c.1379A>T (p.Glu460Val)
c.1523A>T (p.Glu508Val)
c.*1232A>T (n.*1232A>T)
c.1505A>T (p.Glu502Val)
c.1565A>T (p.Glu522Val)
n.1441A>T
c.1487A>T (p.Glu496Val)
c.1757A>T (p.Glu586Val)
c.1766A>T (p.Glu589Val)
c.1112A>T (p.Glu371Val)
c.1556A>T (p.Glu519Val)
9g.135770301G>ACA5327012KCNT1c.1623G>A (p.Glu541=)
c.1464G>A (p.Glu488=)
c.1371G>A (p.Glu457=)
c.1380G>A (p.Glu460=)
c.1524G>A (p.Glu508=)
c.*1233G>A (n.*1233G>A)
c.1506G>A (p.Glu502=)
c.1566G>A (p.Glu522=)
n.1442G>A
c.1488G>A (p.Glu496=)
c.1758G>A (p.Glu586=)
c.1767G>A (p.Glu589=)
c.1113G>A (p.Glu371=)
c.1557G>A (p.Glu519=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770301G>CCA375506085KCNT1c.1623G>C (p.Glu541Asp)
c.1464G>C (p.Glu488Asp)
c.1371G>C (p.Glu457Asp)
c.1380G>C (p.Glu460Asp)
c.1524G>C (p.Glu508Asp)
c.*1233G>C (n.*1233G>C)
c.1506G>C (p.Glu502Asp)
c.1566G>C (p.Glu522Asp)
n.1442G>C
c.1488G>C (p.Glu496Asp)
c.1758G>C (p.Glu586Asp)
c.1767G>C (p.Glu589Asp)
c.1113G>C (p.Glu371Asp)
c.1557G>C (p.Glu519Asp)
9g.135770301G=CA1883873239KCNT1c.1623G= (p.Glu541=)
c.1464G= (p.Glu488=)
c.1371G= (p.Glu457=)
c.1380G= (p.Glu460=)
c.1524G= (p.Glu508=)
c.*1233G= (n.*1233G=)
c.1506G= (p.Glu502=)
c.1566G= (p.Glu522=)
n.1442G=
c.1488G= (p.Glu496=)
c.1758G= (p.Glu586=)
c.1767G= (p.Glu589=)
c.1113G= (p.Glu371=)
c.1557G= (p.Glu519=)
9g.135770301G>TCA375506087KCNT1c.1623G>T (p.Glu541Asp)
c.1464G>T (p.Glu488Asp)
c.1371G>T (p.Glu457Asp)
c.1380G>T (p.Glu460Asp)
c.1524G>T (p.Glu508Asp)
c.*1233G>T (n.*1233G>T)
c.1506G>T (p.Glu502Asp)
c.1566G>T (p.Glu522Asp)
n.1442G>T
c.1488G>T (p.Glu496Asp)
c.1758G>T (p.Glu586Asp)
c.1767G>T (p.Glu589Asp)
c.1113G>T (p.Glu371Asp)
c.1557G>T (p.Glu519Asp)
 COSMIC COSMIC
9g.135770303delCA2786247859KCNT1c.1625del (p.Gly542AspfsTer?)
c.1466del (p.Gly489AspfsTer?)
c.1373del (p.Gly458AspfsTer?)
c.1382del (p.Gly461AspfsTer?)
c.1526del (p.Gly509AspfsTer?)
c.*1235del (n.*1235del)
c.1508del (p.Gly503AspfsTer?)
c.1568del (p.Gly523AspfsTer?)
n.1444del
c.1490del (p.Gly497AspfsTer?)
c.1760del (p.Gly587AspfsTer?)
c.1769del (p.Gly590AspfsTer?)
c.1115del (p.Gly372AspfsTer?)
c.1559del (p.Gly520AspfsTer?)
9g.135770302G>ACA375506089KCNT1c.1624G>A (p.Gly542Arg)
c.1465G>A (p.Gly489Arg)
c.1372G>A (p.Gly458Arg)
c.1381G>A (p.Gly461Arg)
c.1525G>A (p.Gly509Arg)
c.*1234G>A (n.*1234G>A)
c.1507G>A (p.Gly503Arg)
c.1567G>A (p.Gly523Arg)
n.1443G>A
c.1489G>A (p.Gly497Arg)
c.1759G>A (p.Gly587Arg)
c.1768G>A (p.Gly590Arg)
c.1114G>A (p.Gly372Arg)
c.1558G>A (p.Gly520Arg)
9g.135770302G>CCA375506091KCNT1c.1624G>C (p.Gly542Arg)
c.1465G>C (p.Gly489Arg)
c.1372G>C (p.Gly458Arg)
c.1381G>C (p.Gly461Arg)
c.1525G>C (p.Gly509Arg)
c.*1234G>C (n.*1234G>C)
c.1507G>C (p.Gly503Arg)
c.1567G>C (p.Gly523Arg)
n.1443G>C
c.1489G>C (p.Gly497Arg)
c.1759G>C (p.Gly587Arg)
c.1768G>C (p.Gly590Arg)
c.1114G>C (p.Gly372Arg)
c.1558G>C (p.Gly520Arg)
9g.135770302G>TCA375506093KCNT1c.1624G>T (p.Gly542Ter)
c.1465G>T (p.Gly489Ter)
c.1372G>T (p.Gly458Ter)
c.1381G>T (p.Gly461Ter)
c.1525G>T (p.Gly509Ter)
c.*1234G>T (n.*1234G>T)
c.1507G>T (p.Gly503Ter)
c.1567G>T (p.Gly523Ter)
n.1443G>T
c.1489G>T (p.Gly497Ter)
c.1759G>T (p.Gly587Ter)
c.1768G>T (p.Gly590Ter)
c.1114G>T (p.Gly372Ter)
c.1558G>T (p.Gly520Ter)
 gnomAD v4
9g.135770303G>ACA375506097KCNT1c.1625G>A (p.Gly542Glu)
c.1466G>A (p.Gly489Glu)
c.1373G>A (p.Gly458Glu)
c.1382G>A (p.Gly461Glu)
c.1526G>A (p.Gly509Glu)
c.*1235G>A (n.*1235G>A)
c.1508G>A (p.Gly503Glu)
c.1568G>A (p.Gly523Glu)
n.1444G>A
c.1490G>A (p.Gly497Glu)
c.1760G>A (p.Gly587Glu)
c.1769G>A (p.Gly590Glu)
c.1115G>A (p.Gly372Glu)
c.1559G>A (p.Gly520Glu)
9g.135770303G>CCA375506099KCNT1c.1625G>C (p.Gly542Ala)
c.1466G>C (p.Gly489Ala)
c.1373G>C (p.Gly458Ala)
c.1382G>C (p.Gly461Ala)
c.1526G>C (p.Gly509Ala)
c.*1235G>C (n.*1235G>C)
c.1508G>C (p.Gly503Ala)
c.1568G>C (p.Gly523Ala)
n.1444G>C
c.1490G>C (p.Gly497Ala)
c.1760G>C (p.Gly587Ala)
c.1769G>C (p.Gly590Ala)
c.1115G>C (p.Gly372Ala)
c.1559G>C (p.Gly520Ala)
9g.135770303G>TCA375506101KCNT1c.1625G>T (p.Gly542Val)
c.1466G>T (p.Gly489Val)
c.1373G>T (p.Gly458Val)
c.1382G>T (p.Gly461Val)
c.1526G>T (p.Gly509Val)
c.*1235G>T (n.*1235G>T)
c.1508G>T (p.Gly503Val)
c.1568G>T (p.Gly523Val)
n.1444G>T
c.1490G>T (p.Gly497Val)
c.1760G>T (p.Gly587Val)
c.1769G>T (p.Gly590Val)
c.1115G>T (p.Gly372Val)
c.1559G>T (p.Gly520Val)
9g.135770304delCA2580617147KCNT1c.1626del (p.Gln543ArgfsTer?)
c.1467del (p.Gln490ArgfsTer?)
c.1374del (p.Gln459ArgfsTer?)
c.1383del (p.Gln462ArgfsTer?)
c.1527del (p.Gln510ArgfsTer?)
c.*1236del (n.*1236del)
c.1509del (p.Gln504ArgfsTer?)
c.1569del (p.Gln524ArgfsTer?)
n.1445del
c.1491del (p.Gln498ArgfsTer?)
c.1761del (p.Gln588ArgfsTer?)
c.1770del (p.Gln591ArgfsTer?)
c.1116del (p.Gln373ArgfsTer?)
c.1560del (p.Gln521ArgfsTer?)
 ClinVar
9g.135770304A=CA1883873247KCNT1c.1626A= (p.Gly542=)
c.1467A= (p.Gly489=)
c.1374A= (p.Gly458=)
c.1383A= (p.Gly461=)
c.1527A= (p.Gly509=)
c.*1236A= (n.*1236A=)
c.1509A= (p.Gly503=)
c.1569A= (p.Gly523=)
n.1445A=
c.1491A= (p.Gly497=)
c.1761A= (p.Gly587=)
c.1770A= (p.Gly590=)
c.1116A= (p.Gly372=)
c.1560A= (p.Gly520=)
9g.135770304A>CCA467698495KCNT1c.1626A>C (p.Gly542=)
c.1467A>C (p.Gly489=)
c.1374A>C (p.Gly458=)
c.1383A>C (p.Gly461=)
c.1527A>C (p.Gly509=)
c.*1236A>C (n.*1236A>C)
c.1509A>C (p.Gly503=)
c.1569A>C (p.Gly523=)
n.1445A>C
c.1491A>C (p.Gly497=)
c.1761A>C (p.Gly587=)
c.1770A>C (p.Gly590=)
c.1116A>C (p.Gly372=)
c.1560A>C (p.Gly520=)
9g.135770304A>GCA5327013KCNT1c.1626A>G (p.Gly542=)
c.1467A>G (p.Gly489=)
c.1374A>G (p.Gly458=)
c.1383A>G (p.Gly461=)
c.1527A>G (p.Gly509=)
c.*1236A>G (n.*1236A>G)
c.1509A>G (p.Gly503=)
c.1569A>G (p.Gly523=)
n.1445A>G
c.1491A>G (p.Gly497=)
c.1761A>G (p.Gly587=)
c.1770A>G (p.Gly590=)
c.1116A>G (p.Gly372=)
c.1560A>G (p.Gly520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770304A>TCA467698496KCNT1c.1626A>T (p.Gly542=)
c.1467A>T (p.Gly489=)
c.1374A>T (p.Gly458=)
c.1383A>T (p.Gly461=)
c.1527A>T (p.Gly509=)
c.*1236A>T (n.*1236A>T)
c.1509A>T (p.Gly503=)
c.1569A>T (p.Gly523=)
n.1445A>T
c.1491A>T (p.Gly497=)
c.1761A>T (p.Gly587=)
c.1770A>T (p.Gly590=)
c.1116A>T (p.Gly372=)
c.1560A>T (p.Gly520=)
9g.135770305C>ACA375506103KCNT1c.1627C>A (p.Gln543Lys)
c.1468C>A (p.Gln490Lys)
c.1375C>A (p.Gln459Lys)
c.1384C>A (p.Gln462Lys)
c.1528C>A (p.Gln510Lys)
c.*1237C>A (n.*1237C>A)
c.1510C>A (p.Gln504Lys)
c.1570C>A (p.Gln524Lys)
n.1446C>A
c.1492C>A (p.Gln498Lys)
c.1762C>A (p.Gln588Lys)
c.1771C>A (p.Gln591Lys)
c.1117C>A (p.Gln373Lys)
c.1561C>A (p.Gln521Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.135770305C=CA1883873251KCNT1c.1627C= (p.Gln543=)
c.1468C= (p.Gln490=)
c.1375C= (p.Gln459=)
c.1384C= (p.Gln462=)
c.1528C= (p.Gln510=)
c.*1237C= (n.*1237C=)
c.1510C= (p.Gln504=)
c.1570C= (p.Gln524=)
n.1446C=
c.1492C= (p.Gln498=)
c.1762C= (p.Gln588=)
c.1771C= (p.Gln591=)
c.1117C= (p.Gln373=)
c.1561C= (p.Gln521=)
9g.135770305C>GCA375506104KCNT1c.1627C>G (p.Gln543Glu)
c.1468C>G (p.Gln490Glu)
c.1375C>G (p.Gln459Glu)
c.1384C>G (p.Gln462Glu)
c.1528C>G (p.Gln510Glu)
c.*1237C>G (n.*1237C>G)
c.1510C>G (p.Gln504Glu)
c.1570C>G (p.Gln524Glu)
n.1446C>G
c.1492C>G (p.Gln498Glu)
c.1762C>G (p.Gln588Glu)
c.1771C>G (p.Gln591Glu)
c.1117C>G (p.Gln373Glu)
c.1561C>G (p.Gln521Glu)
9g.135770305C>TCA375506106KCNT1c.1627C>T (p.Gln543Ter)
c.1468C>T (p.Gln490Ter)
c.1375C>T (p.Gln459Ter)
c.1384C>T (p.Gln462Ter)
c.1528C>T (p.Gln510Ter)
c.*1237C>T (n.*1237C>T)
c.1510C>T (p.Gln504Ter)
c.1570C>T (p.Gln524Ter)
n.1446C>T
c.1492C>T (p.Gln498Ter)
c.1762C>T (p.Gln588Ter)
c.1771C>T (p.Gln591Ter)
c.1117C>T (p.Gln373Ter)
c.1561C>T (p.Gln521Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135770306A=CA1883873253KCNT1c.1628A= (p.Gln543=)
c.1469A= (p.Gln490=)
c.1376A= (p.Gln459=)
c.1385A= (p.Gln462=)
c.1529A= (p.Gln510=)
c.*1238A= (n.*1238A=)
c.1511A= (p.Gln504=)
c.1571A= (p.Gln524=)
n.1447A=
c.1493A= (p.Gln498=)
c.1763A= (p.Gln588=)
c.1772A= (p.Gln591=)
c.1118A= (p.Gln373=)
c.1562A= (p.Gln521=)
9g.135770306A>CCA375506108KCNT1c.1628A>C (p.Gln543Pro)
c.1469A>C (p.Gln490Pro)
c.1376A>C (p.Gln459Pro)
c.1385A>C (p.Gln462Pro)
c.1529A>C (p.Gln510Pro)
c.*1238A>C (n.*1238A>C)
c.1511A>C (p.Gln504Pro)
c.1571A>C (p.Gln524Pro)
n.1447A>C
c.1493A>C (p.Gln498Pro)
c.1763A>C (p.Gln588Pro)
c.1772A>C (p.Gln591Pro)
c.1118A>C (p.Gln373Pro)
c.1562A>C (p.Gln521Pro)
9g.135770306A>GCA5327014KCNT1c.1628A>G (p.Gln543Arg)
c.1469A>G (p.Gln490Arg)
c.1376A>G (p.Gln459Arg)
c.1385A>G (p.Gln462Arg)
c.1529A>G (p.Gln510Arg)
c.*1238A>G (n.*1238A>G)
c.1511A>G (p.Gln504Arg)
c.1571A>G (p.Gln524Arg)
n.1447A>G
c.1493A>G (p.Gln498Arg)
c.1763A>G (p.Gln588Arg)
c.1772A>G (p.Gln591Arg)
c.1118A>G (p.Gln373Arg)
c.1562A>G (p.Gln521Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.135770306A>TCA375506109KCNT1c.1628A>T (p.Gln543Leu)
c.1469A>T (p.Gln490Leu)
c.1376A>T (p.Gln459Leu)
c.1385A>T (p.Gln462Leu)
c.1529A>T (p.Gln510Leu)
c.*1238A>T (n.*1238A>T)
c.1511A>T (p.Gln504Leu)
c.1571A>T (p.Gln524Leu)
n.1447A>T
c.1493A>T (p.Gln498Leu)
c.1763A>T (p.Gln588Leu)
c.1772A>T (p.Gln591Leu)
c.1118A>T (p.Gln373Leu)
c.1562A>T (p.Gln521Leu)
9g.135770307G>ACA467698497KCNT1c.1629G>A (p.Gln543=)
c.1470G>A (p.Gln490=)
c.1377G>A (p.Gln459=)
c.1386G>A (p.Gln462=)
c.1530G>A (p.Gln510=)
c.*1239G>A (n.*1239G>A)
c.1512G>A (p.Gln504=)
c.1572G>A (p.Gln524=)
n.1448G>A
c.1494G>A (p.Gln498=)
c.1764G>A (p.Gln588=)
c.1773G>A (p.Gln591=)
c.1119G>A (p.Gln373=)
c.1563G>A (p.Gln521=)
 dbSNP gnomAD v2 gnomAD v4
9g.135770307G>CCA375506113KCNT1c.1629G>C (p.Gln543His)
c.1470G>C (p.Gln490His)
c.1377G>C (p.Gln459His)
c.1386G>C (p.Gln462His)
c.1530G>C (p.Gln510His)
c.*1239G>C (n.*1239G>C)
c.1512G>C (p.Gln504His)
c.1572G>C (p.Gln524His)
n.1448G>C
c.1494G>C (p.Gln498His)
c.1764G>C (p.Gln588His)
c.1773G>C (p.Gln591His)
c.1119G>C (p.Gln373His)
c.1563G>C (p.Gln521His)
9g.135770307G=CA1883873259KCNT1c.1629G= (p.Gln543=)
c.1470G= (p.Gln490=)
c.1377G= (p.Gln459=)
c.1386G= (p.Gln462=)
c.1530G= (p.Gln510=)
c.*1239G= (n.*1239G=)
c.1512G= (p.Gln504=)
c.1572G= (p.Gln524=)
n.1448G=
c.1494G= (p.Gln498=)
c.1764G= (p.Gln588=)
c.1773G= (p.Gln591=)
c.1119G= (p.Gln373=)
c.1563G= (p.Gln521=)
9g.135770307G>TCA375506115KCNT1c.1629G>T (p.Gln543His)
c.1470G>T (p.Gln490His)
c.1377G>T (p.Gln459His)
c.1386G>T (p.Gln462His)
c.1530G>T (p.Gln510His)
c.*1239G>T (n.*1239G>T)
c.1512G>T (p.Gln504His)
c.1572G>T (p.Gln524His)
n.1448G>T
c.1494G>T (p.Gln498His)
c.1764G>T (p.Gln588His)
c.1773G>T (p.Gln591His)
c.1119G>T (p.Gln373His)
c.1563G>T (p.Gln521His)
9g.135770308G>ACA375506117KCNT1c.1630G>A (p.Glu544Lys)
c.1471G>A (p.Glu491Lys)
c.1378G>A (p.Glu460Lys)
c.1387G>A (p.Glu463Lys)
c.1531G>A (p.Glu511Lys)
c.*1240G>A (n.*1240G>A)
c.1513G>A (p.Glu505Lys)
c.1573G>A (p.Glu525Lys)
n.1449G>A
c.1495G>A (p.Glu499Lys)
c.1765G>A (p.Glu589Lys)
c.1774G>A (p.Glu592Lys)
c.1120G>A (p.Glu374Lys)
c.1564G>A (p.Glu522Lys)
9g.135770308G>CCA375506118KCNT1c.1630G>C (p.Glu544Gln)
c.1471G>C (p.Glu491Gln)
c.1378G>C (p.Glu460Gln)
c.1387G>C (p.Glu463Gln)
c.1531G>C (p.Glu511Gln)
c.*1240G>C (n.*1240G>C)
c.1513G>C (p.Glu505Gln)
c.1573G>C (p.Glu525Gln)
n.1449G>C
c.1495G>C (p.Glu499Gln)
c.1765G>C (p.Glu589Gln)
c.1774G>C (p.Glu592Gln)
c.1120G>C (p.Glu374Gln)
c.1564G>C (p.Glu522Gln)
 gnomAD v4
9g.135770308G>TCA375506120KCNT1c.1630G>T (p.Glu544Ter)
c.1471G>T (p.Glu491Ter)
c.1378G>T (p.Glu460Ter)
c.1387G>T (p.Glu463Ter)
c.1531G>T (p.Glu511Ter)
c.*1240G>T (n.*1240G>T)
c.1513G>T (p.Glu505Ter)
c.1573G>T (p.Glu525Ter)
n.1449G>T
c.1495G>T (p.Glu499Ter)
c.1765G>T (p.Glu589Ter)
c.1774G>T (p.Glu592Ter)
c.1120G>T (p.Glu374Ter)
c.1564G>T (p.Glu522Ter)
9g.135770309A>CCA375506123KCNT1c.1631A>C (p.Glu544Ala)
c.1472A>C (p.Glu491Ala)
c.1379A>C (p.Glu460Ala)
c.1388A>C (p.Glu463Ala)
c.1532A>C (p.Glu511Ala)
c.*1241A>C (n.*1241A>C)
c.1514A>C (p.Glu505Ala)
c.1574A>C (p.Glu525Ala)
n.1450A>C
c.1496A>C (p.Glu499Ala)
c.1766A>C (p.Glu589Ala)
c.1775A>C (p.Glu592Ala)
c.1121A>C (p.Glu374Ala)
c.1565A>C (p.Glu522Ala)
9g.135770309A>GCA375506124KCNT1c.1631A>G (p.Glu544Gly)
c.1472A>G (p.Glu491Gly)
c.1379A>G (p.Glu460Gly)
c.1388A>G (p.Glu463Gly)
c.1532A>G (p.Glu511Gly)
c.*1241A>G (n.*1241A>G)
c.1514A>G (p.Glu505Gly)
c.1574A>G (p.Glu525Gly)
n.1450A>G
c.1496A>G (p.Glu499Gly)
c.1766A>G (p.Glu589Gly)
c.1775A>G (p.Glu592Gly)
c.1121A>G (p.Glu374Gly)
c.1565A>G (p.Glu522Gly)
9g.135770309A>TCA375506125KCNT1c.1631A>T (p.Glu544Val)
c.1472A>T (p.Glu491Val)
c.1379A>T (p.Glu460Val)
c.1388A>T (p.Glu463Val)
c.1532A>T (p.Glu511Val)
c.*1241A>T (n.*1241A>T)
c.1514A>T (p.Glu505Val)
c.1574A>T (p.Glu525Val)
n.1450A>T
c.1496A>T (p.Glu499Val)
c.1766A>T (p.Glu589Val)
c.1775A>T (p.Glu592Val)
c.1121A>T (p.Glu374Val)
c.1565A>T (p.Glu522Val)
9g.135770310G>ACA467698498KCNT1c.1632G>A (p.Glu544=)
c.1473G>A (p.Glu491=)
c.1380G>A (p.Glu460=)
c.1389G>A (p.Glu463=)
c.1533G>A (p.Glu511=)
c.*1242G>A (n.*1242G>A)
c.1515G>A (p.Glu505=)
c.1575G>A (p.Glu525=)
n.1451G>A
c.1497G>A (p.Glu499=)
c.1767G>A (p.Glu589=)
c.1776G>A (p.Glu592=)
c.1122G>A (p.Glu374=)
c.1566G>A (p.Glu522=)
9g.135770310G>CCA375506128KCNT1c.1632G>C (p.Glu544Asp)
c.1473G>C (p.Glu491Asp)
c.1380G>C (p.Glu460Asp)
c.1389G>C (p.Glu463Asp)
c.1533G>C (p.Glu511Asp)
c.*1242G>C (n.*1242G>C)
c.1515G>C (p.Glu505Asp)
c.1575G>C (p.Glu525Asp)
n.1451G>C
c.1497G>C (p.Glu499Asp)
c.1767G>C (p.Glu589Asp)
c.1776G>C (p.Glu592Asp)
c.1122G>C (p.Glu374Asp)
c.1566G>C (p.Glu522Asp)
9g.135770310G>TCA375506129KCNT1c.1632G>T (p.Glu544Asp)
c.1473G>T (p.Glu491Asp)
c.1380G>T (p.Glu460Asp)
c.1389G>T (p.Glu463Asp)
c.1533G>T (p.Glu511Asp)
c.*1242G>T (n.*1242G>T)
c.1515G>T (p.Glu505Asp)
c.1575G>T (p.Glu525Asp)
n.1451G>T
c.1497G>T (p.Glu499Asp)
c.1767G>T (p.Glu589Asp)
c.1776G>T (p.Glu592Asp)
c.1122G>T (p.Glu374Asp)
c.1566G>T (p.Glu522Asp)
9g.135770311T>ACA375506135KCNT1c.1633T>A (p.Ser545Thr)
c.1474T>A (p.Ser492Thr)
c.1381T>A (p.Ser461Thr)
c.1390T>A (p.Ser464Thr)
c.1534T>A (p.Ser512Thr)
c.*1243T>A (n.*1243T>A)
c.1516T>A (p.Ser506Thr)
c.1576T>A (p.Ser526Thr)
n.1452T>A
c.1498T>A (p.Ser500Thr)
c.1768T>A (p.Ser590Thr)
c.1777T>A (p.Ser593Thr)
c.1123T>A (p.Ser375Thr)
c.1567T>A (p.Ser523Thr)
9g.135770311T>CCA375506133KCNT1c.1633T>C (p.Ser545Pro)
c.1474T>C (p.Ser492Pro)
c.1381T>C (p.Ser461Pro)
c.1390T>C (p.Ser464Pro)
c.1534T>C (p.Ser512Pro)
c.*1243T>C (n.*1243T>C)
c.1516T>C (p.Ser506Pro)
c.1576T>C (p.Ser526Pro)
n.1452T>C
c.1498T>C (p.Ser500Pro)
c.1768T>C (p.Ser590Pro)
c.1777T>C (p.Ser593Pro)
c.1123T>C (p.Ser375Pro)
c.1567T>C (p.Ser523Pro)
9g.135770311T>GCA375506131KCNT1c.1633T>G (p.Ser545Ala)
c.1474T>G (p.Ser492Ala)
c.1381T>G (p.Ser461Ala)
c.1390T>G (p.Ser464Ala)
c.1534T>G (p.Ser512Ala)
c.*1243T>G (n.*1243T>G)
c.1516T>G (p.Ser506Ala)
c.1576T>G (p.Ser526Ala)
n.1452T>G
c.1498T>G (p.Ser500Ala)
c.1768T>G (p.Ser590Ala)
c.1777T>G (p.Ser593Ala)
c.1123T>G (p.Ser375Ala)
c.1567T>G (p.Ser523Ala)
9g.135770312C>ACA375506138KCNT1c.1634C>A (p.Ser545Tyr)
c.1475C>A (p.Ser492Tyr)
c.1382C>A (p.Ser461Tyr)
c.1391C>A (p.Ser464Tyr)
c.1535C>A (p.Ser512Tyr)
c.*1244C>A (n.*1244C>A)
c.1517C>A (p.Ser506Tyr)
c.1577C>A (p.Ser526Tyr)
n.1453C>A
c.1499C>A (p.Ser500Tyr)
c.1769C>A (p.Ser590Tyr)
c.1778C>A (p.Ser593Tyr)
c.1124C>A (p.Ser375Tyr)
c.1568C>A (p.Ser523Tyr)
9g.135770312C>GCA375506136KCNT1c.1634C>G (p.Ser545Cys)
c.1475C>G (p.Ser492Cys)
c.1382C>G (p.Ser461Cys)
c.1391C>G (p.Ser464Cys)
c.1535C>G (p.Ser512Cys)
c.*1244C>G (n.*1244C>G)
c.1517C>G (p.Ser506Cys)
c.1577C>G (p.Ser526Cys)
n.1453C>G
c.1499C>G (p.Ser500Cys)
c.1769C>G (p.Ser590Cys)
c.1778C>G (p.Ser593Cys)
c.1124C>G (p.Ser375Cys)
c.1568C>G (p.Ser523Cys)
9g.135770312C>TCA375506137KCNT1c.1634C>T (p.Ser545Phe)
c.1475C>T (p.Ser492Phe)
c.1382C>T (p.Ser461Phe)
c.1391C>T (p.Ser464Phe)
c.1535C>T (p.Ser512Phe)
c.*1244C>T (n.*1244C>T)
c.1517C>T (p.Ser506Phe)
c.1577C>T (p.Ser526Phe)
n.1453C>T
c.1499C>T (p.Ser500Phe)
c.1769C>T (p.Ser590Phe)
c.1778C>T (p.Ser593Phe)
c.1124C>T (p.Ser375Phe)
c.1568C>T (p.Ser523Phe)
9g.135770313T>ACA467698499KCNT1c.1635T>A (p.Ser545=)
c.1476T>A (p.Ser492=)
c.1383T>A (p.Ser461=)
c.1392T>A (p.Ser464=)
c.1536T>A (p.Ser512=)
c.*1245T>A (n.*1245T>A)
c.1518T>A (p.Ser506=)
c.1578T>A (p.Ser526=)
n.1454T>A
c.1500T>A (p.Ser500=)
c.1770T>A (p.Ser590=)
c.1779T>A (p.Ser593=)
c.1125T>A (p.Ser375=)
c.1569T>A (p.Ser523=)
9g.135770313T>CCA467698500KCNT1c.1635T>C (p.Ser545=)
c.1476T>C (p.Ser492=)
c.1383T>C (p.Ser461=)
c.1392T>C (p.Ser464=)
c.1536T>C (p.Ser512=)
c.*1245T>C (n.*1245T>C)
c.1518T>C (p.Ser506=)
c.1578T>C (p.Ser526=)
n.1454T>C
c.1500T>C (p.Ser500=)
c.1770T>C (p.Ser590=)
c.1779T>C (p.Ser593=)
c.1125T>C (p.Ser375=)
c.1569T>C (p.Ser523=)
9g.135770313T>GCA467698501KCNT1c.1635T>G (p.Ser545=)
c.1476T>G (p.Ser492=)
c.1383T>G (p.Ser461=)
c.1392T>G (p.Ser464=)
c.1536T>G (p.Ser512=)
c.*1245T>G (n.*1245T>G)
c.1518T>G (p.Ser506=)
c.1578T>G (p.Ser526=)
n.1454T>G
c.1500T>G (p.Ser500=)
c.1770T>G (p.Ser590=)
c.1779T>G (p.Ser593=)
c.1125T>G (p.Ser375=)
c.1569T>G (p.Ser523=)
9g.135770314C>ACA375506141KCNT1c.1636C>A (p.Pro546Thr)
c.1477C>A (p.Pro493Thr)
c.1384C>A (p.Pro462Thr)
c.1393C>A (p.Pro465Thr)
c.1537C>A (p.Pro513Thr)
c.*1246C>A (n.*1246C>A)
c.1519C>A (p.Pro507Thr)
c.1579C>A (p.Pro527Thr)
n.1455C>A
c.1501C>A (p.Pro501Thr)
c.1771C>A (p.Pro591Thr)
c.1780C>A (p.Pro594Thr)
c.1126C>A (p.Pro376Thr)
c.1570C>A (p.Pro524Thr)
9g.135770314C=CA1883873262KCNT1c.1636C= (p.Pro546=)
c.1477C= (p.Pro493=)
c.1384C= (p.Pro462=)
c.1393C= (p.Pro465=)
c.1537C= (p.Pro513=)
c.*1246C= (n.*1246C=)
c.1519C= (p.Pro507=)
c.1579C= (p.Pro527=)
n.1455C=
c.1501C= (p.Pro501=)
c.1771C= (p.Pro591=)
c.1780C= (p.Pro594=)
c.1126C= (p.Pro376=)
c.1570C= (p.Pro524=)
9g.135770314C>GCA375506142KCNT1c.1636C>G (p.Pro546Ala)
c.1477C>G (p.Pro493Ala)
c.1384C>G (p.Pro462Ala)
c.1393C>G (p.Pro465Ala)
c.1537C>G (p.Pro513Ala)
c.*1246C>G (n.*1246C>G)
c.1519C>G (p.Pro507Ala)
c.1579C>G (p.Pro527Ala)
n.1455C>G
c.1501C>G (p.Pro501Ala)
c.1771C>G (p.Pro591Ala)
c.1780C>G (p.Pro594Ala)
c.1126C>G (p.Pro376Ala)
c.1570C>G (p.Pro524Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135770314C>TCA201472901KCNT1c.1636C>T (p.Pro546Ser)
c.1477C>T (p.Pro493Ser)
c.1384C>T (p.Pro462Ser)
c.1393C>T (p.Pro465Ser)
c.1537C>T (p.Pro513Ser)
c.*1246C>T (n.*1246C>T)
c.1519C>T (p.Pro507Ser)
c.1579C>T (p.Pro527Ser)
n.1455C>T
c.1501C>T (p.Pro501Ser)
c.1771C>T (p.Pro591Ser)
c.1780C>T (p.Pro594Ser)
c.1126C>T (p.Pro376Ser)
c.1570C>T (p.Pro524Ser)
 dbSNP gnomAD v4
9g.135770315C>ACA375506145KCNT1c.1637C>A (p.Pro546Gln)
c.1478C>A (p.Pro493Gln)
c.1385C>A (p.Pro462Gln)
c.1394C>A (p.Pro465Gln)
c.1538C>A (p.Pro513Gln)
c.*1247C>A (n.*1247C>A)
c.1520C>A (p.Pro507Gln)
c.1580C>A (p.Pro527Gln)
n.1456C>A
c.1502C>A (p.Pro501Gln)
c.1772C>A (p.Pro591Gln)
c.1781C>A (p.Pro594Gln)
c.1127C>A (p.Pro376Gln)
c.1571C>A (p.Pro524Gln)
 COSMIC COSMIC
9g.135770315C=CA1883873263KCNT1c.1637C= (p.Pro546=)
c.1478C= (p.Pro493=)
c.1385C= (p.Pro462=)
c.1394C= (p.Pro465=)
c.1538C= (p.Pro513=)
c.*1247C= (n.*1247C=)
c.1520C= (p.Pro507=)
c.1580C= (p.Pro527=)
n.1456C=
c.1502C= (p.Pro501=)
c.1772C= (p.Pro591=)
c.1781C= (p.Pro594=)
c.1127C= (p.Pro376=)
c.1571C= (p.Pro524=)
9g.135770315C>GCA375506149KCNT1c.1637C>G (p.Pro546Arg)
c.1478C>G (p.Pro493Arg)
c.1385C>G (p.Pro462Arg)
c.1394C>G (p.Pro465Arg)
c.1538C>G (p.Pro513Arg)
c.*1247C>G (n.*1247C>G)
c.1520C>G (p.Pro507Arg)
c.1580C>G (p.Pro527Arg)
n.1456C>G
c.1502C>G (p.Pro501Arg)
c.1772C>G (p.Pro591Arg)
c.1781C>G (p.Pro594Arg)
c.1127C>G (p.Pro376Arg)
c.1571C>G (p.Pro524Arg)
9g.135770315C>TCA5327015KCNT1c.1637C>T (p.Pro546Leu)
c.1478C>T (p.Pro493Leu)
c.1385C>T (p.Pro462Leu)
c.1394C>T (p.Pro465Leu)
c.1538C>T (p.Pro513Leu)
c.*1247C>T (n.*1247C>T)
c.1520C>T (p.Pro507Leu)
c.1580C>T (p.Pro527Leu)
n.1456C>T
c.1502C>T (p.Pro501Leu)
c.1772C>T (p.Pro591Leu)
c.1781C>T (p.Pro594Leu)
c.1127C>T (p.Pro376Leu)
c.1571C>T (p.Pro524Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770316G>ACA5327016KCNT1c.1638G>A (p.Pro546=)
c.1479G>A (p.Pro493=)
c.1386G>A (p.Pro462=)
c.1395G>A (p.Pro465=)
c.1539G>A (p.Pro513=)
c.*1248G>A (n.*1248G>A)
c.1521G>A (p.Pro507=)
c.1581G>A (p.Pro527=)
n.1457G>A
c.1503G>A (p.Pro501=)
c.1773G>A (p.Pro591=)
c.1782G>A (p.Pro594=)
c.1128G>A (p.Pro376=)
c.1572G>A (p.Pro524=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770316G>CCA467698503KCNT1c.1638G>C (p.Pro546=)
c.1479G>C (p.Pro493=)
c.1386G>C (p.Pro462=)
c.1395G>C (p.Pro465=)
c.1539G>C (p.Pro513=)
c.*1248G>C (n.*1248G>C)
c.1521G>C (p.Pro507=)
c.1581G>C (p.Pro527=)
n.1457G>C
c.1503G>C (p.Pro501=)
c.1773G>C (p.Pro591=)
c.1782G>C (p.Pro594=)
c.1128G>C (p.Pro376=)
c.1572G>C (p.Pro524=)
 dbSNP
9g.135770316G=CA1883873268KCNT1c.1638G= (p.Pro546=)
c.1479G= (p.Pro493=)
c.1386G= (p.Pro462=)
c.1395G= (p.Pro465=)
c.1539G= (p.Pro513=)
c.*1248G= (n.*1248G=)
c.1521G= (p.Pro507=)
c.1581G= (p.Pro527=)
n.1457G=
c.1503G= (p.Pro501=)
c.1773G= (p.Pro591=)
c.1782G= (p.Pro594=)
c.1128G= (p.Pro376=)
c.1572G= (p.Pro524=)
9g.135770316G>TCA467698502KCNT1c.1638G>T (p.Pro546=)
c.1479G>T (p.Pro493=)
c.1386G>T (p.Pro462=)
c.1395G>T (p.Pro465=)
c.1539G>T (p.Pro513=)
c.*1248G>T (n.*1248G>T)
c.1521G>T (p.Pro507=)
c.1581G>T (p.Pro527=)
n.1457G>T
c.1503G>T (p.Pro501=)
c.1773G>T (p.Pro591=)
c.1782G>T (p.Pro594=)
c.1128G>T (p.Pro376=)
c.1572G>T (p.Pro524=)
9g.135770317G>ACA375506167KCNT1c.1639G>A (p.Glu547Lys)
c.1480G>A (p.Glu494Lys)
c.1387G>A (p.Glu463Lys)
c.1396G>A (p.Glu466Lys)
c.1540G>A (p.Glu514Lys)
c.*1249G>A (n.*1249G>A)
c.1522G>A (p.Glu508Lys)
c.1582G>A (p.Glu528Lys)
n.1458G>A
c.1504G>A (p.Glu502Lys)
c.1774G>A (p.Glu592Lys)
c.1783G>A (p.Glu595Lys)
c.1129G>A (p.Glu377Lys)
c.1573G>A (p.Glu525Lys)
9g.135770317G>CCA375506168KCNT1c.1639G>C (p.Glu547Gln)
c.1480G>C (p.Glu494Gln)
c.1387G>C (p.Glu463Gln)
c.1396G>C (p.Glu466Gln)
c.1540G>C (p.Glu514Gln)
c.*1249G>C (n.*1249G>C)
c.1522G>C (p.Glu508Gln)
c.1582G>C (p.Glu528Gln)
n.1458G>C
c.1504G>C (p.Glu502Gln)
c.1774G>C (p.Glu592Gln)
c.1783G>C (p.Glu595Gln)
c.1129G>C (p.Glu377Gln)
c.1573G>C (p.Glu525Gln)
9g.135770317G>TCA375506170KCNT1c.1639G>T (p.Glu547Ter)
c.1480G>T (p.Glu494Ter)
c.1387G>T (p.Glu463Ter)
c.1396G>T (p.Glu466Ter)
c.1540G>T (p.Glu514Ter)
c.*1249G>T (n.*1249G>T)
c.1522G>T (p.Glu508Ter)
c.1582G>T (p.Glu528Ter)
n.1458G>T
c.1504G>T (p.Glu502Ter)
c.1774G>T (p.Glu592Ter)
c.1783G>T (p.Glu595Ter)
c.1129G>T (p.Glu377Ter)
c.1573G>T (p.Glu525Ter)
9g.135770318A>CCA375506181KCNT1c.1640A>C (p.Glu547Ala)
c.1481A>C (p.Glu494Ala)
c.1388A>C (p.Glu463Ala)
c.1397A>C (p.Glu466Ala)
c.1541A>C (p.Glu514Ala)
c.*1250A>C (n.*1250A>C)
c.1523A>C (p.Glu508Ala)
c.1583A>C (p.Glu528Ala)
n.1459A>C
c.1505A>C (p.Glu502Ala)
c.1775A>C (p.Glu592Ala)
c.1784A>C (p.Glu595Ala)
c.1130A>C (p.Glu377Ala)
c.1574A>C (p.Glu525Ala)
9g.135770318A>GCA375506178KCNT1c.1640A>G (p.Glu547Gly)
c.1481A>G (p.Glu494Gly)
c.1388A>G (p.Glu463Gly)
c.1397A>G (p.Glu466Gly)
c.1541A>G (p.Glu514Gly)
c.*1250A>G (n.*1250A>G)
c.1523A>G (p.Glu508Gly)
c.1583A>G (p.Glu528Gly)
n.1459A>G
c.1505A>G (p.Glu502Gly)
c.1775A>G (p.Glu592Gly)
c.1784A>G (p.Glu595Gly)
c.1130A>G (p.Glu377Gly)
c.1574A>G (p.Glu525Gly)
9g.135770318A>TCA375506175KCNT1c.1640A>T (p.Glu547Val)
c.1481A>T (p.Glu494Val)
c.1388A>T (p.Glu463Val)
c.1397A>T (p.Glu466Val)
c.1541A>T (p.Glu514Val)
c.*1250A>T (n.*1250A>T)
c.1523A>T (p.Glu508Val)
c.1583A>T (p.Glu528Val)
n.1459A>T
c.1505A>T (p.Glu502Val)
c.1775A>T (p.Glu592Val)
c.1784A>T (p.Glu595Val)
c.1130A>T (p.Glu377Val)
c.1574A>T (p.Glu525Val)
9g.135770319G>ACA467698504KCNT1c.1641G>A (p.Glu547=)
c.1482G>A (p.Glu494=)
c.1389G>A (p.Glu463=)
c.1398G>A (p.Glu466=)
c.1542G>A (p.Glu514=)
c.*1251G>A (n.*1251G>A)
c.1524G>A (p.Glu508=)
c.1584G>A (p.Glu528=)
n.1460G>A
c.1506G>A (p.Glu502=)
c.1776G>A (p.Glu592=)
c.1785G>A (p.Glu595=)
c.1131G>A (p.Glu377=)
c.1575G>A (p.Glu525=)
9g.135770319G>CCA375506183KCNT1c.1641G>C (p.Glu547Asp)
c.1482G>C (p.Glu494Asp)
c.1389G>C (p.Glu463Asp)
c.1398G>C (p.Glu466Asp)
c.1542G>C (p.Glu514Asp)
c.*1251G>C (n.*1251G>C)
c.1524G>C (p.Glu508Asp)
c.1584G>C (p.Glu528Asp)
n.1460G>C
c.1506G>C (p.Glu502Asp)
c.1776G>C (p.Glu592Asp)
c.1785G>C (p.Glu595Asp)
c.1131G>C (p.Glu377Asp)
c.1575G>C (p.Glu525Asp)
9g.135770319G>TCA375506184KCNT1c.1641G>T (p.Glu547Asp)
c.1482G>T (p.Glu494Asp)
c.1389G>T (p.Glu463Asp)
c.1398G>T (p.Glu466Asp)
c.1542G>T (p.Glu514Asp)
c.*1251G>T (n.*1251G>T)
c.1524G>T (p.Glu508Asp)
c.1584G>T (p.Glu528Asp)
n.1460G>T
c.1506G>T (p.Glu502Asp)
c.1776G>T (p.Glu592Asp)
c.1785G>T (p.Glu595Asp)
c.1131G>T (p.Glu377Asp)
c.1575G>T (p.Glu525Asp)
9g.135770320C>ACA375506186KCNT1c.1642C>A (p.Gln548Lys)
c.1483C>A (p.Gln495Lys)
c.1390C>A (p.Gln464Lys)
c.1399C>A (p.Gln467Lys)
c.1543C>A (p.Gln515Lys)
c.*1252C>A (n.*1252C>A)
c.1525C>A (p.Gln509Lys)
c.1585C>A (p.Gln529Lys)
n.1461C>A
c.1507C>A (p.Gln503Lys)
c.1777C>A (p.Gln593Lys)
c.1786C>A (p.Gln596Lys)
c.1132C>A (p.Gln378Lys)
c.1576C>A (p.Gln526Lys)
 gnomAD v4
9g.135770320C>GCA375506188KCNT1c.1642C>G (p.Gln548Glu)
c.1483C>G (p.Gln495Glu)
c.1390C>G (p.Gln464Glu)
c.1399C>G (p.Gln467Glu)
c.1543C>G (p.Gln515Glu)
c.*1252C>G (n.*1252C>G)
c.1525C>G (p.Gln509Glu)
c.1585C>G (p.Gln529Glu)
n.1461C>G
c.1507C>G (p.Gln503Glu)
c.1777C>G (p.Gln593Glu)
c.1786C>G (p.Gln596Glu)
c.1132C>G (p.Gln378Glu)
c.1576C>G (p.Gln526Glu)
9g.135770320C>TCA375506191KCNT1c.1642C>T (p.Gln548Ter)
c.1483C>T (p.Gln495Ter)
c.1390C>T (p.Gln464Ter)
c.1399C>T (p.Gln467Ter)
c.1543C>T (p.Gln515Ter)
c.*1252C>T (n.*1252C>T)
c.1525C>T (p.Gln509Ter)
c.1585C>T (p.Gln529Ter)
n.1461C>T
c.1507C>T (p.Gln503Ter)
c.1777C>T (p.Gln593Ter)
c.1786C>T (p.Gln596Ter)
c.1132C>T (p.Gln378Ter)
c.1576C>T (p.Gln526Ter)
 COSMIC COSMIC
9g.135770321A=CA1883873273KCNT1c.1643A= (p.Gln548=)
c.1484A= (p.Gln495=)
c.1391A= (p.Gln464=)
c.1400A= (p.Gln467=)
c.1544A= (p.Gln515=)
c.*1253A= (n.*1253A=)
c.1526A= (p.Gln509=)
c.1586A= (p.Gln529=)
n.1462A=
c.1508A= (p.Gln503=)
c.1778A= (p.Gln593=)
c.1787A= (p.Gln596=)
c.1133A= (p.Gln378=)
c.1577A= (p.Gln526=)
9g.135770321A>CCA375506195KCNT1c.1643A>C (p.Gln548Pro)
c.1484A>C (p.Gln495Pro)
c.1391A>C (p.Gln464Pro)
c.1400A>C (p.Gln467Pro)
c.1544A>C (p.Gln515Pro)
c.*1253A>C (n.*1253A>C)
c.1526A>C (p.Gln509Pro)
c.1586A>C (p.Gln529Pro)
n.1462A>C
c.1508A>C (p.Gln503Pro)
c.1778A>C (p.Gln593Pro)
c.1787A>C (p.Gln596Pro)
c.1133A>C (p.Gln378Pro)
c.1577A>C (p.Gln526Pro)
 dbSNP
9g.135770321A>GCA375506196KCNT1c.1643A>G (p.Gln548Arg)
c.1484A>G (p.Gln495Arg)
c.1391A>G (p.Gln464Arg)
c.1400A>G (p.Gln467Arg)
c.1544A>G (p.Gln515Arg)
c.*1253A>G (n.*1253A>G)
c.1526A>G (p.Gln509Arg)
c.1586A>G (p.Gln529Arg)
n.1462A>G
c.1508A>G (p.Gln503Arg)
c.1778A>G (p.Gln593Arg)
c.1787A>G (p.Gln596Arg)
c.1133A>G (p.Gln378Arg)
c.1577A>G (p.Gln526Arg)
9g.135770321A>TCA375506198KCNT1c.1643A>T (p.Gln548Leu)
c.1484A>T (p.Gln495Leu)
c.1391A>T (p.Gln464Leu)
c.1400A>T (p.Gln467Leu)
c.1544A>T (p.Gln515Leu)
c.*1253A>T (n.*1253A>T)
c.1526A>T (p.Gln509Leu)
c.1586A>T (p.Gln529Leu)
n.1462A>T
c.1508A>T (p.Gln503Leu)
c.1778A>T (p.Gln593Leu)
c.1787A>T (p.Gln596Leu)
c.1133A>T (p.Gln378Leu)
c.1577A>T (p.Gln526Leu)
9g.135770322G>ACA467698505KCNT1c.1644G>A (p.Gln548=)
c.1485G>A (p.Gln495=)
c.1392G>A (p.Gln464=)
c.1401G>A (p.Gln467=)
c.1545G>A (p.Gln515=)
c.*1254G>A (n.*1254G>A)
c.1527G>A (p.Gln509=)
c.1587G>A (p.Gln529=)
n.1463G>A
c.1509G>A (p.Gln503=)
c.1779G>A (p.Gln593=)
c.1788G>A (p.Gln596=)
c.1134G>A (p.Gln378=)
c.1578G>A (p.Gln526=)
9g.135770322G>CCA375506202KCNT1c.1644G>C (p.Gln548His)
c.1485G>C (p.Gln495His)
c.1392G>C (p.Gln464His)
c.1401G>C (p.Gln467His)
c.1545G>C (p.Gln515His)
c.*1254G>C (n.*1254G>C)
c.1527G>C (p.Gln509His)
c.1587G>C (p.Gln529His)
n.1463G>C
c.1509G>C (p.Gln503His)
c.1779G>C (p.Gln593His)
c.1788G>C (p.Gln596His)
c.1134G>C (p.Gln378His)
c.1578G>C (p.Gln526His)
 gnomAD v4
9g.135770322G>TCA375506204KCNT1c.1644G>T (p.Gln548His)
c.1485G>T (p.Gln495His)
c.1392G>T (p.Gln464His)
c.1401G>T (p.Gln467His)
c.1545G>T (p.Gln515His)
c.*1254G>T (n.*1254G>T)
c.1527G>T (p.Gln509His)
c.1587G>T (p.Gln529His)
n.1463G>T
c.1509G>T (p.Gln503His)
c.1779G>T (p.Gln593His)
c.1788G>T (p.Gln596His)
c.1134G>T (p.Gln378His)
c.1578G>T (p.Gln526His)
9g.135770323T>ACA375506207KCNT1c.1645T>A (p.Trp549Arg)
c.1486T>A (p.Trp496Arg)
c.1393T>A (p.Trp465Arg)
c.1402T>A (p.Trp468Arg)
c.1546T>A (p.Trp516Arg)
c.*1255T>A (n.*1255T>A)
c.1528T>A (p.Trp510Arg)
c.1588T>A (p.Trp530Arg)
n.1464T>A
c.1510T>A (p.Trp504Arg)
c.1780T>A (p.Trp594Arg)
c.1789T>A (p.Trp597Arg)
c.1135T>A (p.Trp379Arg)
c.1579T>A (p.Trp527Arg)
9g.135770323T>CCA375506210KCNT1c.1645T>C (p.Trp549Arg)
c.1486T>C (p.Trp496Arg)
c.1393T>C (p.Trp465Arg)
c.1402T>C (p.Trp468Arg)
c.1546T>C (p.Trp516Arg)
c.*1255T>C (n.*1255T>C)
c.1528T>C (p.Trp510Arg)
c.1588T>C (p.Trp530Arg)
n.1464T>C
c.1510T>C (p.Trp504Arg)
c.1780T>C (p.Trp594Arg)
c.1789T>C (p.Trp597Arg)
c.1135T>C (p.Trp379Arg)
c.1579T>C (p.Trp527Arg)
9g.135770323T>GCA375506213KCNT1c.1645T>G (p.Trp549Gly)
c.1486T>G (p.Trp496Gly)
c.1393T>G (p.Trp465Gly)
c.1402T>G (p.Trp468Gly)
c.1546T>G (p.Trp516Gly)
c.*1255T>G (n.*1255T>G)
c.1528T>G (p.Trp510Gly)
c.1588T>G (p.Trp530Gly)
n.1464T>G
c.1510T>G (p.Trp504Gly)
c.1780T>G (p.Trp594Gly)
c.1789T>G (p.Trp597Gly)
c.1135T>G (p.Trp379Gly)
c.1579T>G (p.Trp527Gly)
 ClinVar dbSNP
9g.135770323T=CA1883873276KCNT1c.1645T= (p.Trp549=)
c.1486T= (p.Trp496=)
c.1393T= (p.Trp465=)
c.1402T= (p.Trp468=)
c.1546T= (p.Trp516=)
c.*1255T= (n.*1255T=)
c.1528T= (p.Trp510=)
c.1588T= (p.Trp530=)
n.1464T=
c.1510T= (p.Trp504=)
c.1780T= (p.Trp594=)
c.1789T= (p.Trp597=)
c.1135T= (p.Trp379=)
c.1579T= (p.Trp527=)
9g.135770324G>ACA375506219KCNT1c.1646G>A (p.Trp549Ter)
c.1487G>A (p.Trp496Ter)
c.1394G>A (p.Trp465Ter)
c.1403G>A (p.Trp468Ter)
c.1547G>A (p.Trp516Ter)
c.*1256G>A (n.*1256G>A)
c.1529G>A (p.Trp510Ter)
c.1589G>A (p.Trp530Ter)
n.1465G>A
c.1511G>A (p.Trp504Ter)
c.1781G>A (p.Trp594Ter)
c.1790G>A (p.Trp597Ter)
c.1136G>A (p.Trp379Ter)
c.1580G>A (p.Trp527Ter)
9g.135770324G>CCA375506222KCNT1c.1646G>C (p.Trp549Ser)
c.1487G>C (p.Trp496Ser)
c.1394G>C (p.Trp465Ser)
c.1403G>C (p.Trp468Ser)
c.1547G>C (p.Trp516Ser)
c.*1256G>C (n.*1256G>C)
c.1529G>C (p.Trp510Ser)
c.1589G>C (p.Trp530Ser)
n.1465G>C
c.1511G>C (p.Trp504Ser)
c.1781G>C (p.Trp594Ser)
c.1790G>C (p.Trp597Ser)
c.1136G>C (p.Trp379Ser)
c.1580G>C (p.Trp527Ser)
9g.135770324G>TCA375506216KCNT1c.1646G>T (p.Trp549Leu)
c.1487G>T (p.Trp496Leu)
c.1394G>T (p.Trp465Leu)
c.1403G>T (p.Trp468Leu)
c.1547G>T (p.Trp516Leu)
c.*1256G>T (n.*1256G>T)
c.1529G>T (p.Trp510Leu)
c.1589G>T (p.Trp530Leu)
n.1465G>T
c.1511G>T (p.Trp504Leu)
c.1781G>T (p.Trp594Leu)
c.1790G>T (p.Trp597Leu)
c.1136G>T (p.Trp379Leu)
c.1580G>T (p.Trp527Leu)
9g.135770325G>ACA375506225KCNT1c.1647G>A (p.Trp549Ter)
c.1488G>A (p.Trp496Ter)
c.1395G>A (p.Trp465Ter)
c.1404G>A (p.Trp468Ter)
c.1548G>A (p.Trp516Ter)
c.*1257G>A (n.*1257G>A)
c.1530G>A (p.Trp510Ter)
c.1590G>A (p.Trp530Ter)
n.1466G>A
c.1512G>A (p.Trp504Ter)
c.1782G>A (p.Trp594Ter)
c.1791G>A (p.Trp597Ter)
c.1137G>A (p.Trp379Ter)
c.1581G>A (p.Trp527Ter)
9g.135770325G>CCA375506230KCNT1c.1647G>C (p.Trp549Cys)
c.1488G>C (p.Trp496Cys)
c.1395G>C (p.Trp465Cys)
c.1404G>C (p.Trp468Cys)
c.1548G>C (p.Trp516Cys)
c.*1257G>C (n.*1257G>C)
c.1530G>C (p.Trp510Cys)
c.1590G>C (p.Trp530Cys)
n.1466G>C
c.1512G>C (p.Trp504Cys)
c.1782G>C (p.Trp594Cys)
c.1791G>C (p.Trp597Cys)
c.1137G>C (p.Trp379Cys)
c.1581G>C (p.Trp527Cys)
9g.135770325G>TCA375506227KCNT1c.1647G>T (p.Trp549Cys)
c.1488G>T (p.Trp496Cys)
c.1395G>T (p.Trp465Cys)
c.1404G>T (p.Trp468Cys)
c.1548G>T (p.Trp516Cys)
c.*1257G>T (n.*1257G>T)
c.1530G>T (p.Trp510Cys)
c.1590G>T (p.Trp530Cys)
n.1466G>T
c.1512G>T (p.Trp504Cys)
c.1782G>T (p.Trp594Cys)
c.1791G>T (p.Trp597Cys)
c.1137G>T (p.Trp379Cys)
c.1581G>T (p.Trp527Cys)
9g.135770327_135770329delCA2695211724KCNT1c.1649_1651del (p.Gln550del)
c.1490_1492del (p.Gln497del)
c.1397_1399del (p.Gln466del)
c.1406_1408del (p.Gln469del)
c.1550_1552del (p.Gln517del)
c.*1259_*1261del (n.*1259_*1261del)
c.1532_1534del (p.Gln511del)
c.1592_1594del (p.Gln531del)
n.1468_1470del
c.1514_1516del (p.Gln505del)
c.1784_1786del (p.Gln595del)
c.1793_1795del (p.Gln598del)
c.1139_1141del (p.Gln380del)
c.1583_1585del (p.Gln528del)
9g.135770326C>ACA375506234KCNT1c.1648C>A (p.Gln550Lys)
c.1489C>A (p.Gln497Lys)
c.1396C>A (p.Gln466Lys)
c.1405C>A (p.Gln469Lys)
c.1549C>A (p.Gln517Lys)
c.*1258C>A (n.*1258C>A)
c.1531C>A (p.Gln511Lys)
c.1591C>A (p.Gln531Lys)
n.1467C>A
c.1513C>A (p.Gln505Lys)
c.1783C>A (p.Gln595Lys)
c.1792C>A (p.Gln598Lys)
c.1138C>A (p.Gln380Lys)
c.1582C>A (p.Gln528Lys)
9g.135770326C>GCA375506236KCNT1c.1648C>G (p.Gln550Glu)
c.1489C>G (p.Gln497Glu)
c.1396C>G (p.Gln466Glu)
c.1405C>G (p.Gln469Glu)
c.1549C>G (p.Gln517Glu)
c.*1258C>G (n.*1258C>G)
c.1531C>G (p.Gln511Glu)
c.1591C>G (p.Gln531Glu)
n.1467C>G
c.1513C>G (p.Gln505Glu)
c.1783C>G (p.Gln595Glu)
c.1792C>G (p.Gln598Glu)
c.1138C>G (p.Gln380Glu)
c.1582C>G (p.Gln528Glu)
9g.135770326C>TCA375506239KCNT1c.1648C>T (p.Gln550Ter)
c.1489C>T (p.Gln497Ter)
c.1396C>T (p.Gln466Ter)
c.1405C>T (p.Gln469Ter)
c.1549C>T (p.Gln517Ter)
c.*1258C>T (n.*1258C>T)
c.1531C>T (p.Gln511Ter)
c.1591C>T (p.Gln531Ter)
n.1467C>T
c.1513C>T (p.Gln505Ter)
c.1783C>T (p.Gln595Ter)
c.1792C>T (p.Gln598Ter)
c.1138C>T (p.Gln380Ter)
c.1582C>T (p.Gln528Ter)
9g.135770327A>CCA375506241KCNT1c.1649A>C (p.Gln550Pro)
c.1490A>C (p.Gln497Pro)
c.1397A>C (p.Gln466Pro)
c.1406A>C (p.Gln469Pro)
c.1550A>C (p.Gln517Pro)
c.*1259A>C (n.*1259A>C)
c.1532A>C (p.Gln511Pro)
c.1592A>C (p.Gln531Pro)
n.1468A>C
c.1514A>C (p.Gln505Pro)
c.1784A>C (p.Gln595Pro)
c.1793A>C (p.Gln598Pro)
c.1139A>C (p.Gln380Pro)
c.1583A>C (p.Gln528Pro)
9g.135770327A>GCA375506244KCNT1c.1649A>G (p.Gln550Arg)
c.1490A>G (p.Gln497Arg)
c.1397A>G (p.Gln466Arg)
c.1406A>G (p.Gln469Arg)
c.1550A>G (p.Gln517Arg)
c.*1259A>G (n.*1259A>G)
c.1532A>G (p.Gln511Arg)
c.1592A>G (p.Gln531Arg)
n.1468A>G
c.1514A>G (p.Gln505Arg)
c.1784A>G (p.Gln595Arg)
c.1793A>G (p.Gln598Arg)
c.1139A>G (p.Gln380Arg)
c.1583A>G (p.Gln528Arg)
9g.135770327A>TCA375506247KCNT1c.1649A>T (p.Gln550Leu)
c.1490A>T (p.Gln497Leu)
c.1397A>T (p.Gln466Leu)
c.1406A>T (p.Gln469Leu)
c.1550A>T (p.Gln517Leu)
c.*1259A>T (n.*1259A>T)
c.1532A>T (p.Gln511Leu)
c.1592A>T (p.Gln531Leu)
n.1468A>T
c.1514A>T (p.Gln505Leu)
c.1784A>T (p.Gln595Leu)
c.1793A>T (p.Gln598Leu)
c.1139A>T (p.Gln380Leu)
c.1583A>T (p.Gln528Leu)
9g.135770328G>ACA467698506KCNT1c.1650G>A (p.Gln550=)
c.1491G>A (p.Gln497=)
c.1398G>A (p.Gln466=)
c.1407G>A (p.Gln469=)
c.1551G>A (p.Gln517=)
c.*1260G>A (n.*1260G>A)
c.1533G>A (p.Gln511=)
c.1593G>A (p.Gln531=)
n.1469G>A
c.1515G>A (p.Gln505=)
c.1785G>A (p.Gln595=)
c.1794G>A (p.Gln598=)
c.1140G>A (p.Gln380=)
c.1584G>A (p.Gln528=)
9g.135770328G>CCA375506250KCNT1c.1650G>C (p.Gln550His)
c.1491G>C (p.Gln497His)
c.1398G>C (p.Gln466His)
c.1407G>C (p.Gln469His)
c.1551G>C (p.Gln517His)
c.*1260G>C (n.*1260G>C)
c.1533G>C (p.Gln511His)
c.1593G>C (p.Gln531His)
n.1469G>C
c.1515G>C (p.Gln505His)
c.1785G>C (p.Gln595His)
c.1794G>C (p.Gln598His)
c.1140G>C (p.Gln380His)
c.1584G>C (p.Gln528His)
9g.135770328G>TCA375506255KCNT1c.1650G>T (p.Gln550His)
c.1491G>T (p.Gln497His)
c.1398G>T (p.Gln466His)
c.1407G>T (p.Gln469His)
c.1551G>T (p.Gln517His)
c.*1260G>T (n.*1260G>T)
c.1533G>T (p.Gln511His)
c.1593G>T (p.Gln531His)
n.1469G>T
c.1515G>T (p.Gln505His)
c.1785G>T (p.Gln595His)
c.1794G>T (p.Gln598His)
c.1140G>T (p.Gln380His)
c.1584G>T (p.Gln528His)
9g.135770329C>ACA375506257KCNT1c.1651C>A (p.Arg551Ser)
c.1492C>A (p.Arg498Ser)
c.1399C>A (p.Arg467Ser)
c.1408C>A (p.Arg470Ser)
c.1552C>A (p.Arg518Ser)
c.*1261C>A (n.*1261C>A)
c.1534C>A (p.Arg512Ser)
c.1594C>A (p.Arg532Ser)
n.1470C>A
c.1516C>A (p.Arg506Ser)
c.1786C>A (p.Arg596Ser)
c.1795C>A (p.Arg599Ser)
c.1141C>A (p.Arg381Ser)
c.1585C>A (p.Arg529Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.135770329C=CA1883873284KCNT1c.1651C= (p.Arg551=)
c.1492C= (p.Arg498=)
c.1399C= (p.Arg467=)
c.1408C= (p.Arg470=)
c.1552C= (p.Arg518=)
c.*1261C= (n.*1261C=)
c.1534C= (p.Arg512=)
c.1594C= (p.Arg532=)
n.1470C=
c.1516C= (p.Arg506=)
c.1786C= (p.Arg596=)
c.1795C= (p.Arg599=)
c.1141C= (p.Arg381=)
c.1585C= (p.Arg529=)
9g.135770329C>GCA375506260KCNT1c.1651C>G (p.Arg551Gly)
c.1492C>G (p.Arg498Gly)
c.1399C>G (p.Arg467Gly)
c.1408C>G (p.Arg470Gly)
c.1552C>G (p.Arg518Gly)
c.*1261C>G (n.*1261C>G)
c.1534C>G (p.Arg512Gly)
c.1594C>G (p.Arg532Gly)
n.1470C>G
c.1516C>G (p.Arg506Gly)
c.1786C>G (p.Arg596Gly)
c.1795C>G (p.Arg599Gly)
c.1141C>G (p.Arg381Gly)
c.1585C>G (p.Arg529Gly)
9g.135770329C>TCA5327017KCNT1c.1651C>T (p.Arg551Cys)
c.1492C>T (p.Arg498Cys)
c.1399C>T (p.Arg467Cys)
c.1408C>T (p.Arg470Cys)
c.1552C>T (p.Arg518Cys)
c.*1261C>T (n.*1261C>T)
c.1534C>T (p.Arg512Cys)
c.1594C>T (p.Arg532Cys)
n.1470C>T
c.1516C>T (p.Arg506Cys)
c.1786C>T (p.Arg596Cys)
c.1795C>T (p.Arg599Cys)
c.1141C>T (p.Arg381Cys)
c.1585C>T (p.Arg529Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770330G>ACA5327018KCNT1c.1652G>A (p.Arg551His)
c.1493G>A (p.Arg498His)
c.1400G>A (p.Arg467His)
c.1409G>A (p.Arg470His)
c.1553G>A (p.Arg518His)
c.*1262G>A (n.*1262G>A)
c.1535G>A (p.Arg512His)
c.1595G>A (p.Arg532His)
n.1471G>A
c.1517G>A (p.Arg506His)
c.1787G>A (p.Arg596His)
c.1796G>A (p.Arg599His)
c.1142G>A (p.Arg381His)
c.1586G>A (p.Arg529His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770330G>CCA375506267KCNT1c.1652G>C (p.Arg551Pro)
c.1493G>C (p.Arg498Pro)
c.1400G>C (p.Arg467Pro)
c.1409G>C (p.Arg470Pro)
c.1553G>C (p.Arg518Pro)
c.*1262G>C (n.*1262G>C)
c.1535G>C (p.Arg512Pro)
c.1595G>C (p.Arg532Pro)
n.1471G>C
c.1517G>C (p.Arg506Pro)
c.1787G>C (p.Arg596Pro)
c.1796G>C (p.Arg599Pro)
c.1142G>C (p.Arg381Pro)
c.1586G>C (p.Arg529Pro)
9g.135770330G=CA1883873292KCNT1c.1652G= (p.Arg551=)
c.1493G= (p.Arg498=)
c.1400G= (p.Arg467=)
c.1409G= (p.Arg470=)
c.1553G= (p.Arg518=)
c.*1262G= (n.*1262G=)
c.1535G= (p.Arg512=)
c.1595G= (p.Arg532=)
n.1471G=
c.1517G= (p.Arg506=)
c.1787G= (p.Arg596=)
c.1796G= (p.Arg599=)
c.1142G= (p.Arg381=)
c.1586G= (p.Arg529=)
9g.135770330G>TCA375506265KCNT1c.1652G>T (p.Arg551Leu)
c.1493G>T (p.Arg498Leu)
c.1400G>T (p.Arg467Leu)
c.1409G>T (p.Arg470Leu)
c.1553G>T (p.Arg518Leu)
c.*1262G>T (n.*1262G>T)
c.1535G>T (p.Arg512Leu)
c.1595G>T (p.Arg532Leu)
n.1471G>T
c.1517G>T (p.Arg506Leu)
c.1787G>T (p.Arg596Leu)
c.1796G>T (p.Arg599Leu)
c.1142G>T (p.Arg381Leu)
c.1586G>T (p.Arg529Leu)
 ClinVar dbSNP
9g.135770331C>ACA467698507KCNT1c.1653C>A (p.Arg551=)
c.1494C>A (p.Arg498=)
c.1401C>A (p.Arg467=)
c.1410C>A (p.Arg470=)
c.1554C>A (p.Arg518=)
c.*1263C>A (n.*1263C>A)
c.1536C>A (p.Arg512=)
c.1596C>A (p.Arg532=)
n.1472C>A
c.1518C>A (p.Arg506=)
c.1788C>A (p.Arg596=)
c.1797C>A (p.Arg599=)
c.1143C>A (p.Arg381=)
c.1587C>A (p.Arg529=)
9g.135770331C=CA1883873299KCNT1c.1653C= (p.Arg551=)
c.1494C= (p.Arg498=)
c.1401C= (p.Arg467=)
c.1410C= (p.Arg470=)
c.1554C= (p.Arg518=)
c.*1263C= (n.*1263C=)
c.1536C= (p.Arg512=)
c.1596C= (p.Arg532=)
n.1472C=
c.1518C= (p.Arg506=)
c.1788C= (p.Arg596=)
c.1797C= (p.Arg599=)
c.1143C= (p.Arg381=)
c.1587C= (p.Arg529=)
9g.135770331C>GCA467698509KCNT1c.1653C>G (p.Arg551=)
c.1494C>G (p.Arg498=)
c.1401C>G (p.Arg467=)
c.1410C>G (p.Arg470=)
c.1554C>G (p.Arg518=)
c.*1263C>G (n.*1263C>G)
c.1536C>G (p.Arg512=)
c.1596C>G (p.Arg532=)
n.1472C>G
c.1518C>G (p.Arg506=)
c.1788C>G (p.Arg596=)
c.1797C>G (p.Arg599=)
c.1143C>G (p.Arg381=)
c.1587C>G (p.Arg529=)
9g.135770331C>TCA467698508KCNT1c.1653C>T (p.Arg551=)
c.1494C>T (p.Arg498=)
c.1401C>T (p.Arg467=)
c.1410C>T (p.Arg470=)
c.1554C>T (p.Arg518=)
c.*1263C>T (n.*1263C>T)
c.1536C>T (p.Arg512=)
c.1596C>T (p.Arg532=)
n.1472C>T
c.1518C>T (p.Arg506=)
c.1788C>T (p.Arg596=)
c.1797C>T (p.Arg599=)
c.1143C>T (p.Arg381=)
c.1587C>T (p.Arg529=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.135770331dupCA2692518791KCNT1c.1653dup (p.Met552HisfsTer17)
c.1494dup (p.Met499HisfsTer17)
c.1401dup (p.Met468HisfsTer17)
c.1410dup (p.Met471HisfsTer17)
c.1554dup (p.Met519HisfsTer17)
c.*1263dup (n.*1263dup)
c.1536dup (p.Met513HisfsTer17)
c.1596dup (p.Met533HisfsTer17)
n.1472dup
c.1518dup (p.Met507HisfsTer17)
c.1788dup (p.Met597HisfsTer17)
c.1797dup (p.Met600HisfsTer17)
c.1143dup (p.Met382HisfsTer17)
c.1587dup (p.Met530HisfsTer17)
 gnomAD v4
9g.135770332A>CCA375506278KCNT1c.1654A>C (p.Met552Leu)
c.1495A>C (p.Met499Leu)
c.1402A>C (p.Met468Leu)
c.1411A>C (p.Met471Leu)
c.1555A>C (p.Met519Leu)
c.*1264A>C (n.*1264A>C)
c.1537A>C (p.Met513Leu)
c.1597A>C (p.Met533Leu)
n.1473A>C
c.1519A>C (p.Met507Leu)
c.1789A>C (p.Met597Leu)
c.1798A>C (p.Met600Leu)
c.1144A>C (p.Met382Leu)
c.1588A>C (p.Met530Leu)
9g.135770332A>GCA375506281KCNT1c.1654A>G (p.Met552Val)
c.1495A>G (p.Met499Val)
c.1402A>G (p.Met468Val)
c.1411A>G (p.Met471Val)
c.1555A>G (p.Met519Val)
c.*1264A>G (n.*1264A>G)
c.1537A>G (p.Met513Val)
c.1597A>G (p.Met533Val)
n.1473A>G
c.1519A>G (p.Met507Val)
c.1789A>G (p.Met597Val)
c.1798A>G (p.Met600Val)
c.1144A>G (p.Met382Val)
c.1588A>G (p.Met530Val)
 ClinVar dbSNP gnomAD v4
9g.135770332A>TCA375506285KCNT1c.1654A>T (p.Met552Leu)
c.1495A>T (p.Met499Leu)
c.1402A>T (p.Met468Leu)
c.1411A>T (p.Met471Leu)
c.1555A>T (p.Met519Leu)
c.*1264A>T (n.*1264A>T)
c.1537A>T (p.Met513Leu)
c.1597A>T (p.Met533Leu)
n.1473A>T
c.1519A>T (p.Met507Leu)
c.1789A>T (p.Met597Leu)
c.1798A>T (p.Met600Leu)
c.1144A>T (p.Met382Leu)
c.1588A>T (p.Met530Leu)
9g.135770333T>ACA375506290KCNT1c.1655T>A (p.Met552Lys)
c.1496T>A (p.Met499Lys)
c.1403T>A (p.Met468Lys)
c.1412T>A (p.Met471Lys)
c.1556T>A (p.Met519Lys)
c.*1265T>A (n.*1265T>A)
c.1538T>A (p.Met513Lys)
c.1598T>A (p.Met533Lys)
n.1474T>A
c.1520T>A (p.Met507Lys)
c.1790T>A (p.Met597Lys)
c.1799T>A (p.Met600Lys)
c.1145T>A (p.Met382Lys)
c.1589T>A (p.Met530Lys)
9g.135770333T>CCA375506291KCNT1c.1655T>C (p.Met552Thr)
c.1496T>C (p.Met499Thr)
c.1403T>C (p.Met468Thr)
c.1412T>C (p.Met471Thr)
c.1556T>C (p.Met519Thr)
c.*1265T>C (n.*1265T>C)
c.1538T>C (p.Met513Thr)
c.1598T>C (p.Met533Thr)
n.1474T>C
c.1520T>C (p.Met507Thr)
c.1790T>C (p.Met597Thr)
c.1799T>C (p.Met600Thr)
c.1145T>C (p.Met382Thr)
c.1589T>C (p.Met530Thr)
9g.135770333T>GCA375506292KCNT1c.1655T>G (p.Met552Arg)
c.1496T>G (p.Met499Arg)
c.1403T>G (p.Met468Arg)
c.1412T>G (p.Met471Arg)
c.1556T>G (p.Met519Arg)
c.*1265T>G (n.*1265T>G)
c.1538T>G (p.Met513Arg)
c.1598T>G (p.Met533Arg)
n.1474T>G
c.1520T>G (p.Met507Arg)
c.1790T>G (p.Met597Arg)
c.1799T>G (p.Met600Arg)
c.1145T>G (p.Met382Arg)
c.1589T>G (p.Met530Arg)
9g.135770334G>ACA375506295KCNT1c.1656G>A (p.Met552Ile)
c.1497G>A (p.Met499Ile)
c.1404G>A (p.Met468Ile)
c.1413G>A (p.Met471Ile)
c.1557G>A (p.Met519Ile)
c.*1266G>A (n.*1266G>A)
c.1539G>A (p.Met513Ile)
c.1599G>A (p.Met533Ile)
n.1475G>A
c.1521G>A (p.Met507Ile)
c.1791G>A (p.Met597Ile)
c.1800G>A (p.Met600Ile)
c.1146G>A (p.Met382Ile)
c.1590G>A (p.Met530Ile)
 dbSNP gnomAD v4
9g.135770334G>CCA375506298KCNT1c.1656G>C (p.Met552Ile)
c.1497G>C (p.Met499Ile)
c.1404G>C (p.Met468Ile)
c.1413G>C (p.Met471Ile)
c.1557G>C (p.Met519Ile)
c.*1266G>C (n.*1266G>C)
c.1539G>C (p.Met513Ile)
c.1599G>C (p.Met533Ile)
n.1475G>C
c.1521G>C (p.Met507Ile)
c.1791G>C (p.Met597Ile)
c.1800G>C (p.Met600Ile)
c.1146G>C (p.Met382Ile)
c.1590G>C (p.Met530Ile)
 gnomAD v4
9g.135770334G=CA1883873303KCNT1c.1656G= (p.Met552=)
c.1497G= (p.Met499=)
c.1404G= (p.Met468=)
c.1413G= (p.Met471=)
c.1557G= (p.Met519=)
c.*1266G= (n.*1266G=)
c.1539G= (p.Met513=)
c.1599G= (p.Met533=)
n.1475G=
c.1521G= (p.Met507=)
c.1791G= (p.Met597=)
c.1800G= (p.Met600=)
c.1146G= (p.Met382=)
c.1590G= (p.Met530=)
9g.135770334G>TCA375506301KCNT1c.1656G>T (p.Met552Ile)
c.1497G>T (p.Met499Ile)
c.1404G>T (p.Met468Ile)
c.1413G>T (p.Met471Ile)
c.1557G>T (p.Met519Ile)
c.*1266G>T (n.*1266G>T)
c.1539G>T (p.Met513Ile)
c.1599G>T (p.Met533Ile)
n.1475G>T
c.1521G>T (p.Met507Ile)
c.1791G>T (p.Met597Ile)
c.1800G>T (p.Met600Ile)
c.1146G>T (p.Met382Ile)
c.1590G>T (p.Met530Ile)
 dbSNP gnomAD v4
9g.135770335T>ACA375506303KCNT1c.1657T>A (p.Tyr553Asn)
c.1498T>A (p.Tyr500Asn)
c.1405T>A (p.Tyr469Asn)
c.1414T>A (p.Tyr472Asn)
c.1558T>A (p.Tyr520Asn)
c.*1267T>A (n.*1267T>A)
c.1540T>A (p.Tyr514Asn)
c.1600T>A (p.Tyr534Asn)
n.1476T>A
c.1522T>A (p.Tyr508Asn)
c.1792T>A (p.Tyr598Asn)
c.1801T>A (p.Tyr601Asn)
c.1147T>A (p.Tyr383Asn)
c.1591T>A (p.Tyr531Asn)
9g.135770335T>CCA375506305KCNT1c.1657T>C (p.Tyr553His)
c.1498T>C (p.Tyr500His)
c.1405T>C (p.Tyr469His)
c.1414T>C (p.Tyr472His)
c.1558T>C (p.Tyr520His)
c.*1267T>C (n.*1267T>C)
c.1540T>C (p.Tyr514His)
c.1600T>C (p.Tyr534His)
n.1476T>C
c.1522T>C (p.Tyr508His)
c.1792T>C (p.Tyr598His)
c.1801T>C (p.Tyr601His)
c.1147T>C (p.Tyr383His)
c.1591T>C (p.Tyr531His)
9g.135770335T>GCA375506307KCNT1c.1657T>G (p.Tyr553Asp)
c.1498T>G (p.Tyr500Asp)
c.1405T>G (p.Tyr469Asp)
c.1414T>G (p.Tyr472Asp)
c.1558T>G (p.Tyr520Asp)
c.*1267T>G (n.*1267T>G)
c.1540T>G (p.Tyr514Asp)
c.1600T>G (p.Tyr534Asp)
n.1476T>G
c.1522T>G (p.Tyr508Asp)
c.1792T>G (p.Tyr598Asp)
c.1801T>G (p.Tyr601Asp)
c.1147T>G (p.Tyr383Asp)
c.1591T>G (p.Tyr531Asp)
9g.135770336A>CCA375506316KCNT1c.1658A>C (p.Tyr553Ser)
c.1499A>C (p.Tyr500Ser)
c.1406A>C (p.Tyr469Ser)
c.1415A>C (p.Tyr472Ser)
c.1559A>C (p.Tyr520Ser)
c.*1268A>C (n.*1268A>C)
c.1541A>C (p.Tyr514Ser)
c.1601A>C (p.Tyr534Ser)
n.1477A>C
c.1523A>C (p.Tyr508Ser)
c.1793A>C (p.Tyr598Ser)
c.1802A>C (p.Tyr601Ser)
c.1148A>C (p.Tyr383Ser)
c.1592A>C (p.Tyr531Ser)
9g.135770336A>GCA375506314KCNT1c.1658A>G (p.Tyr553Cys)
c.1499A>G (p.Tyr500Cys)
c.1406A>G (p.Tyr469Cys)
c.1415A>G (p.Tyr472Cys)
c.1559A>G (p.Tyr520Cys)
c.*1268A>G (n.*1268A>G)
c.1541A>G (p.Tyr514Cys)
c.1601A>G (p.Tyr534Cys)
n.1477A>G
c.1523A>G (p.Tyr508Cys)
c.1793A>G (p.Tyr598Cys)
c.1802A>G (p.Tyr601Cys)
c.1148A>G (p.Tyr383Cys)
c.1592A>G (p.Tyr531Cys)
9g.135770336A>TCA375506311KCNT1c.1658A>T (p.Tyr553Phe)
c.1499A>T (p.Tyr500Phe)
c.1406A>T (p.Tyr469Phe)
c.1415A>T (p.Tyr472Phe)
c.1559A>T (p.Tyr520Phe)
c.*1268A>T (n.*1268A>T)
c.1541A>T (p.Tyr514Phe)
c.1601A>T (p.Tyr534Phe)
n.1477A>T
c.1523A>T (p.Tyr508Phe)
c.1793A>T (p.Tyr598Phe)
c.1802A>T (p.Tyr601Phe)
c.1148A>T (p.Tyr383Phe)
c.1592A>T (p.Tyr531Phe)
9g.135770337T>ACA375506320KCNT1c.1659T>A (p.Tyr553Ter)
c.1500T>A (p.Tyr500Ter)
c.1407T>A (p.Tyr469Ter)
c.1416T>A (p.Tyr472Ter)
c.1560T>A (p.Tyr520Ter)
c.*1269T>A (n.*1269T>A)
c.1542T>A (p.Tyr514Ter)
c.1602T>A (p.Tyr534Ter)
n.1478T>A
c.1524T>A (p.Tyr508Ter)
c.1794T>A (p.Tyr598Ter)
c.1803T>A (p.Tyr601Ter)
c.1149T>A (p.Tyr383Ter)
c.1593T>A (p.Tyr531Ter)
9g.135770337T>CCA467698510KCNT1c.1659T>C (p.Tyr553=)
c.1500T>C (p.Tyr500=)
c.1407T>C (p.Tyr469=)
c.1416T>C (p.Tyr472=)
c.1560T>C (p.Tyr520=)
c.*1269T>C (n.*1269T>C)
c.1542T>C (p.Tyr514=)
c.1602T>C (p.Tyr534=)
n.1478T>C
c.1524T>C (p.Tyr508=)
c.1794T>C (p.Tyr598=)
c.1803T>C (p.Tyr601=)
c.1149T>C (p.Tyr383=)
c.1593T>C (p.Tyr531=)
 dbSNP
9g.135770337T>GCA375506318KCNT1c.1659T>G (p.Tyr553Ter)
c.1500T>G (p.Tyr500Ter)
c.1407T>G (p.Tyr469Ter)
c.1416T>G (p.Tyr472Ter)
c.1560T>G (p.Tyr520Ter)
c.*1269T>G (n.*1269T>G)
c.1542T>G (p.Tyr514Ter)
c.1602T>G (p.Tyr534Ter)
n.1478T>G
c.1524T>G (p.Tyr508Ter)
c.1794T>G (p.Tyr598Ter)
c.1803T>G (p.Tyr601Ter)
c.1149T>G (p.Tyr383Ter)
c.1593T>G (p.Tyr531Ter)
9g.135770338G>ACA375506323KCNT1c.1660G>A (p.Gly554Arg)
c.1501G>A (p.Gly501Arg)
c.1408G>A (p.Gly470Arg)
c.1417G>A (p.Gly473Arg)
c.1561G>A (p.Gly521Arg)
c.*1270G>A (n.*1270G>A)
c.1543G>A (p.Gly515Arg)
c.1603G>A (p.Gly535Arg)
n.1479G>A
c.1525G>A (p.Gly509Arg)
c.1795G>A (p.Gly599Arg)
c.1804G>A (p.Gly602Arg)
c.1150G>A (p.Gly384Arg)
c.1594G>A (p.Gly532Arg)
 gnomAD v4
9g.135770338G>CCA375506325KCNT1c.1660G>C (p.Gly554Arg)
c.1501G>C (p.Gly501Arg)
c.1408G>C (p.Gly470Arg)
c.1417G>C (p.Gly473Arg)
c.1561G>C (p.Gly521Arg)
c.*1270G>C (n.*1270G>C)
c.1543G>C (p.Gly515Arg)
c.1603G>C (p.Gly535Arg)
n.1479G>C
c.1525G>C (p.Gly509Arg)
c.1795G>C (p.Gly599Arg)
c.1804G>C (p.Gly602Arg)
c.1150G>C (p.Gly384Arg)
c.1594G>C (p.Gly532Arg)
 gnomAD v4
9g.135770338G>TCA375506327KCNT1c.1660G>T (p.Gly554Trp)
c.1501G>T (p.Gly501Trp)
c.1408G>T (p.Gly470Trp)
c.1417G>T (p.Gly473Trp)
c.1561G>T (p.Gly521Trp)
c.*1270G>T (n.*1270G>T)
c.1543G>T (p.Gly515Trp)
c.1603G>T (p.Gly535Trp)
n.1479G>T
c.1525G>T (p.Gly509Trp)
c.1795G>T (p.Gly599Trp)
c.1804G>T (p.Gly602Trp)
c.1150G>T (p.Gly384Trp)
c.1594G>T (p.Gly532Trp)
9g.135770339G>ACA375506330KCNT1c.1661G>A (p.Gly554Glu)
c.1502G>A (p.Gly501Glu)
c.1409G>A (p.Gly470Glu)
c.1418G>A (p.Gly473Glu)
c.1562G>A (p.Gly521Glu)
c.*1271G>A (n.*1271G>A)
c.1544G>A (p.Gly515Glu)
c.1604G>A (p.Gly535Glu)
n.1480G>A
c.1526G>A (p.Gly509Glu)
c.1796G>A (p.Gly599Glu)
c.1805G>A (p.Gly602Glu)
c.1151G>A (p.Gly384Glu)
c.1595G>A (p.Gly532Glu)
 ClinVar dbSNP
9g.135770339G>CCA375506332KCNT1c.1661G>C (p.Gly554Ala)
c.1502G>C (p.Gly501Ala)
c.1409G>C (p.Gly470Ala)
c.1418G>C (p.Gly473Ala)
c.1562G>C (p.Gly521Ala)
c.*1271G>C (n.*1271G>C)
c.1544G>C (p.Gly515Ala)
c.1604G>C (p.Gly535Ala)
n.1480G>C
c.1526G>C (p.Gly509Ala)
c.1796G>C (p.Gly599Ala)
c.1805G>C (p.Gly602Ala)
c.1151G>C (p.Gly384Ala)
c.1595G>C (p.Gly532Ala)
9g.135770339G=CA1883873308KCNT1c.1661G= (p.Gly554=)
c.1502G= (p.Gly501=)
c.1409G= (p.Gly470=)
c.1418G= (p.Gly473=)
c.1562G= (p.Gly521=)
c.*1271G= (n.*1271G=)
c.1544G= (p.Gly515=)
c.1604G= (p.Gly535=)
n.1480G=
c.1526G= (p.Gly509=)
c.1796G= (p.Gly599=)
c.1805G= (p.Gly602=)
c.1151G= (p.Gly384=)
c.1595G= (p.Gly532=)
9g.135770339G>TCA375506335KCNT1c.1661G>T (p.Gly554Val)
c.1502G>T (p.Gly501Val)
c.1409G>T (p.Gly470Val)
c.1418G>T (p.Gly473Val)
c.1562G>T (p.Gly521Val)
c.*1271G>T (n.*1271G>T)
c.1544G>T (p.Gly515Val)
c.1604G>T (p.Gly535Val)
n.1480G>T
c.1526G>T (p.Gly509Val)
c.1796G>T (p.Gly599Val)
c.1805G>T (p.Gly602Val)
c.1151G>T (p.Gly384Val)
c.1595G>T (p.Gly532Val)
 dbSNP
9g.135770340G>ACA467698511KCNT1c.1662G>A (p.Gly554=)
c.1503G>A (p.Gly501=)
c.1410G>A (p.Gly470=)
c.1419G>A (p.Gly473=)
c.1563G>A (p.Gly521=)
c.*1272G>A (n.*1272G>A)
c.1545G>A (p.Gly515=)
c.1605G>A (p.Gly535=)
n.1481G>A
c.1527G>A (p.Gly509=)
c.1797G>A (p.Gly599=)
c.1806G>A (p.Gly602=)
c.1152G>A (p.Gly384=)
c.1596G>A (p.Gly532=)
9g.135770340G>CCA467698512KCNT1c.1662G>C (p.Gly554=)
c.1503G>C (p.Gly501=)
c.1410G>C (p.Gly470=)
c.1419G>C (p.Gly473=)
c.1563G>C (p.Gly521=)
c.*1272G>C (n.*1272G>C)
c.1545G>C (p.Gly515=)
c.1605G>C (p.Gly535=)
n.1481G>C
c.1527G>C (p.Gly509=)
c.1797G>C (p.Gly599=)
c.1806G>C (p.Gly602=)
c.1152G>C (p.Gly384=)
c.1596G>C (p.Gly532=)
9g.135770340G>TCA467698513KCNT1c.1662G>T (p.Gly554=)
c.1503G>T (p.Gly501=)
c.1410G>T (p.Gly470=)
c.1419G>T (p.Gly473=)
c.1563G>T (p.Gly521=)
c.*1272G>T (n.*1272G>T)
c.1545G>T (p.Gly515=)
c.1605G>T (p.Gly535=)
n.1481G>T
c.1527G>T (p.Gly509=)
c.1797G>T (p.Gly599=)
c.1806G>T (p.Gly602=)
c.1152G>T (p.Gly384=)
c.1596G>T (p.Gly532=)
 gnomAD v4
9g.135770341C>ACA375506339KCNT1c.1663C>A (p.Arg555Ser)
c.1504C>A (p.Arg502Ser)
c.1411C>A (p.Arg471Ser)
c.1420C>A (p.Arg474Ser)
c.1564C>A (p.Arg522Ser)
c.*1273C>A (n.*1273C>A)
c.1546C>A (p.Arg516Ser)
c.1606C>A (p.Arg536Ser)
n.1482C>A
c.1528C>A (p.Arg510Ser)
c.1798C>A (p.Arg600Ser)
c.1807C>A (p.Arg603Ser)
c.1153C>A (p.Arg385Ser)
c.1597C>A (p.Arg533Ser)
9g.135770341C=CA1883873312KCNT1c.1663C= (p.Arg555=)
c.1504C= (p.Arg502=)
c.1411C= (p.Arg471=)
c.1420C= (p.Arg474=)
c.1564C= (p.Arg522=)
c.*1273C= (n.*1273C=)
c.1546C= (p.Arg516=)
c.1606C= (p.Arg536=)
n.1482C=
c.1528C= (p.Arg510=)
c.1798C= (p.Arg600=)
c.1807C= (p.Arg603=)
c.1153C= (p.Arg385=)
c.1597C= (p.Arg533=)
9g.135770341C>GCA375506349KCNT1c.1663C>G (p.Arg555Gly)
c.1504C>G (p.Arg502Gly)
c.1411C>G (p.Arg471Gly)
c.1420C>G (p.Arg474Gly)
c.1564C>G (p.Arg522Gly)
c.*1273C>G (n.*1273C>G)
c.1546C>G (p.Arg516Gly)
c.1606C>G (p.Arg536Gly)
n.1482C>G
c.1528C>G (p.Arg510Gly)
c.1798C>G (p.Arg600Gly)
c.1807C>G (p.Arg603Gly)
c.1153C>G (p.Arg385Gly)
c.1597C>G (p.Arg533Gly)
9g.135770341C>TCA5327019KCNT1c.1663C>T (p.Arg555Cys)
c.1504C>T (p.Arg502Cys)
c.1411C>T (p.Arg471Cys)
c.1420C>T (p.Arg474Cys)
c.1564C>T (p.Arg522Cys)
c.*1273C>T (n.*1273C>T)
c.1546C>T (p.Arg516Cys)
c.1606C>T (p.Arg536Cys)
n.1482C>T
c.1528C>T (p.Arg510Cys)
c.1798C>T (p.Arg600Cys)
c.1807C>T (p.Arg603Cys)
c.1153C>T (p.Arg385Cys)
c.1597C>T (p.Arg533Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770342G>ACA5327020KCNT1c.1664G>A (p.Arg555His)
c.1505G>A (p.Arg502His)
c.1412G>A (p.Arg471His)
c.1421G>A (p.Arg474His)
c.1565G>A (p.Arg522His)
c.*1274G>A (n.*1274G>A)
c.1547G>A (p.Arg516His)
c.1607G>A (p.Arg536His)
n.1483G>A
c.1529G>A (p.Arg510His)
c.1799G>A (p.Arg600His)
c.1808G>A (p.Arg603His)
c.1154G>A (p.Arg385His)
c.1598G>A (p.Arg533His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.135770342G>CCA201472918KCNT1c.1664G>C (p.Arg555Pro)
c.1505G>C (p.Arg502Pro)
c.1412G>C (p.Arg471Pro)
c.1421G>C (p.Arg474Pro)
c.1565G>C (p.Arg522Pro)
c.*1274G>C (n.*1274G>C)
c.1547G>C (p.Arg516Pro)
c.1607G>C (p.Arg536Pro)
n.1483G>C
c.1529G>C (p.Arg510Pro)
c.1799G>C (p.Arg600Pro)
c.1808G>C (p.Arg603Pro)
c.1154G>C (p.Arg385Pro)
c.1598G>C (p.Arg533Pro)
 dbSNP
9g.135770342G=CA1883873315KCNT1c.1664G= (p.Arg555=)
c.1505G= (p.Arg502=)
c.1412G= (p.Arg471=)
c.1421G= (p.Arg474=)
c.1565G= (p.Arg522=)
c.*1274G= (n.*1274G=)
c.1547G= (p.Arg516=)
c.1607G= (p.Arg536=)
n.1483G=
c.1529G= (p.Arg510=)
c.1799G= (p.Arg600=)
c.1808G= (p.Arg603=)
c.1154G= (p.Arg385=)
c.1598G= (p.Arg533=)
9g.135770342G>TCA375506358KCNT1c.1664G>T (p.Arg555Leu)
c.1505G>T (p.Arg502Leu)
c.1412G>T (p.Arg471Leu)
c.1421G>T (p.Arg474Leu)
c.1565G>T (p.Arg522Leu)
c.*1274G>T (n.*1274G>T)
c.1547G>T (p.Arg516Leu)
c.1607G>T (p.Arg536Leu)
n.1483G>T
c.1529G>T (p.Arg510Leu)
c.1799G>T (p.Arg600Leu)
c.1808G>T (p.Arg603Leu)
c.1154G>T (p.Arg385Leu)
c.1598G>T (p.Arg533Leu)
9g.135770343C>ACA467698514KCNT1c.1665C>A (p.Arg555=)
c.1506C>A (p.Arg502=)
c.1413C>A (p.Arg471=)
c.1422C>A (p.Arg474=)
c.1566C>A (p.Arg522=)
c.*1275C>A (n.*1275C>A)
c.1548C>A (p.Arg516=)
c.1608C>A (p.Arg536=)
n.1484C>A
c.1530C>A (p.Arg510=)
c.1800C>A (p.Arg600=)
c.1809C>A (p.Arg603=)
c.1155C>A (p.Arg385=)
c.1599C>A (p.Arg533=)
9g.135770343C>GCA467698515KCNT1c.1665C>G (p.Arg555=)
c.1506C>G (p.Arg502=)
c.1413C>G (p.Arg471=)
c.1422C>G (p.Arg474=)
c.1566C>G (p.Arg522=)
c.*1275C>G (n.*1275C>G)
c.1548C>G (p.Arg516=)
c.1608C>G (p.Arg536=)
n.1484C>G
c.1530C>G (p.Arg510=)
c.1800C>G (p.Arg600=)
c.1809C>G (p.Arg603=)
c.1155C>G (p.Arg385=)
c.1599C>G (p.Arg533=)
9g.135770343C>TCA467698516KCNT1c.1665C>T (p.Arg555=)
c.1506C>T (p.Arg502=)
c.1413C>T (p.Arg471=)
c.1422C>T (p.Arg474=)
c.1566C>T (p.Arg522=)
c.*1275C>T (n.*1275C>T)
c.1548C>T (p.Arg516=)
c.1608C>T (p.Arg536=)
n.1484C>T
c.1530C>T (p.Arg510=)
c.1800C>T (p.Arg600=)
c.1809C>T (p.Arg603=)
c.1155C>T (p.Arg385=)
c.1599C>T (p.Arg533=)
9g.135770344T>ACA375506366KCNT1c.1666T>A (p.Cys556Ser)
c.1507T>A (p.Cys503Ser)
c.1414T>A (p.Cys472Ser)
c.1423T>A (p.Cys475Ser)
c.1567T>A (p.Cys523Ser)
c.*1276T>A (n.*1276T>A)
c.1549T>A (p.Cys517Ser)
c.1609T>A (p.Cys537Ser)
n.1485T>A
c.1531T>A (p.Cys511Ser)
c.1801T>A (p.Cys601Ser)
c.1810T>A (p.Cys604Ser)
c.1156T>A (p.Cys386Ser)
c.1600T>A (p.Cys534Ser)
9g.135770344T>CCA375506362KCNT1c.1666T>C (p.Cys556Arg)
c.1507T>C (p.Cys503Arg)
c.1414T>C (p.Cys472Arg)
c.1423T>C (p.Cys475Arg)
c.1567T>C (p.Cys523Arg)
c.*1276T>C (n.*1276T>C)
c.1549T>C (p.Cys517Arg)
c.1609T>C (p.Cys537Arg)
n.1485T>C
c.1531T>C (p.Cys511Arg)
c.1801T>C (p.Cys601Arg)
c.1810T>C (p.Cys604Arg)
c.1156T>C (p.Cys386Arg)
c.1600T>C (p.Cys534Arg)
 gnomAD v4
9g.135770344T>GCA375506364KCNT1c.1666T>G (p.Cys556Gly)
c.1507T>G (p.Cys503Gly)
c.1414T>G (p.Cys472Gly)
c.1423T>G (p.Cys475Gly)
c.1567T>G (p.Cys523Gly)
c.*1276T>G (n.*1276T>G)
c.1549T>G (p.Cys517Gly)
c.1609T>G (p.Cys537Gly)
n.1485T>G
c.1531T>G (p.Cys511Gly)
c.1801T>G (p.Cys601Gly)
c.1810T>G (p.Cys604Gly)
c.1156T>G (p.Cys386Gly)
c.1600T>G (p.Cys534Gly)
9g.135770345G>ACA375506368KCNT1c.1667G>A (p.Cys556Tyr)
c.1508G>A (p.Cys503Tyr)
c.1415G>A (p.Cys472Tyr)
c.1424G>A (p.Cys475Tyr)
c.1568G>A (p.Cys523Tyr)
c.*1277G>A (n.*1277G>A)
c.1550G>A (p.Cys517Tyr)
c.1610G>A (p.Cys537Tyr)
n.1486G>A
c.1532G>A (p.Cys511Tyr)
c.1802G>A (p.Cys601Tyr)
c.1811G>A (p.Cys604Tyr)
c.1157G>A (p.Cys386Tyr)
c.1601G>A (p.Cys534Tyr)
9g.135770345G>CCA375506370KCNT1c.1667G>C (p.Cys556Ser)
c.1508G>C (p.Cys503Ser)
c.1415G>C (p.Cys472Ser)
c.1424G>C (p.Cys475Ser)
c.1568G>C (p.Cys523Ser)
c.*1277G>C (n.*1277G>C)
c.1550G>C (p.Cys517Ser)
c.1610G>C (p.Cys537Ser)
n.1486G>C
c.1532G>C (p.Cys511Ser)
c.1802G>C (p.Cys601Ser)
c.1811G>C (p.Cys604Ser)
c.1157G>C (p.Cys386Ser)
c.1601G>C (p.Cys534Ser)
9g.135770345G>TCA375506372KCNT1c.1667G>T (p.Cys556Phe)
c.1508G>T (p.Cys503Phe)
c.1415G>T (p.Cys472Phe)
c.1424G>T (p.Cys475Phe)
c.1568G>T (p.Cys523Phe)
c.*1277G>T (n.*1277G>T)
c.1550G>T (p.Cys517Phe)
c.1610G>T (p.Cys537Phe)
n.1486G>T
c.1532G>T (p.Cys511Phe)
c.1802G>T (p.Cys601Phe)
c.1811G>T (p.Cys604Phe)
c.1157G>T (p.Cys386Phe)
c.1601G>T (p.Cys534Phe)
9g.135770346C>ACA5327021KCNT1c.1668C>A (p.Cys556Ter)
c.1509C>A (p.Cys503Ter)
c.1416C>A (p.Cys472Ter)
c.1425C>A (p.Cys475Ter)
c.1569C>A (p.Cys523Ter)
c.*1278C>A (n.*1278C>A)
c.1551C>A (p.Cys517Ter)
c.1611C>A (p.Cys537Ter)
n.1487C>A
c.1533C>A (p.Cys511Ter)
c.1803C>A (p.Cys601Ter)
c.1812C>A (p.Cys604Ter)
c.1158C>A (p.Cys386Ter)
c.1602C>A (p.Cys534Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770346C=CA1883873323KCNT1c.1668C= (p.Cys556=)
c.1509C= (p.Cys503=)
c.1416C= (p.Cys472=)
c.1425C= (p.Cys475=)
c.1569C= (p.Cys523=)
c.*1278C= (n.*1278C=)
c.1551C= (p.Cys517=)
c.1611C= (p.Cys537=)
n.1487C=
c.1533C= (p.Cys511=)
c.1803C= (p.Cys601=)
c.1812C= (p.Cys604=)
c.1158C= (p.Cys386=)
c.1602C= (p.Cys534=)
9g.135770346C>GCA375506377KCNT1c.1668C>G (p.Cys556Trp)
c.1509C>G (p.Cys503Trp)
c.1416C>G (p.Cys472Trp)
c.1425C>G (p.Cys475Trp)
c.1569C>G (p.Cys523Trp)
c.*1278C>G (n.*1278C>G)
c.1551C>G (p.Cys517Trp)
c.1611C>G (p.Cys537Trp)
n.1487C>G
c.1533C>G (p.Cys511Trp)
c.1803C>G (p.Cys601Trp)
c.1812C>G (p.Cys604Trp)
c.1158C>G (p.Cys386Trp)
c.1602C>G (p.Cys534Trp)
9g.135770346C>TCA467698517KCNT1c.1668C>T (p.Cys556=)
c.1509C>T (p.Cys503=)
c.1416C>T (p.Cys472=)
c.1425C>T (p.Cys475=)
c.1569C>T (p.Cys523=)
c.*1278C>T (n.*1278C>T)
c.1551C>T (p.Cys517=)
c.1611C>T (p.Cys537=)
n.1487C>T
c.1533C>T (p.Cys511=)
c.1803C>T (p.Cys601=)
c.1812C>T (p.Cys604=)
c.1158C>T (p.Cys386=)
c.1602C>T (p.Cys534=)
9g.135770347T>ACA375506379KCNT1c.1669T>A (p.Ser557Thr)
c.1510T>A (p.Ser504Thr)
c.1417T>A (p.Ser473Thr)
c.1426T>A (p.Ser476Thr)
c.1570T>A (p.Ser524Thr)
c.*1279T>A (n.*1279T>A)
c.1552T>A (p.Ser518Thr)
c.1612T>A (p.Ser538Thr)
n.1488T>A
c.1534T>A (p.Ser512Thr)
c.1804T>A (p.Ser602Thr)
c.1813T>A (p.Ser605Thr)
c.1159T>A (p.Ser387Thr)
c.1603T>A (p.Ser535Thr)
9g.135770347T>CCA375506382KCNT1c.1669T>C (p.Ser557Pro)
c.1510T>C (p.Ser504Pro)
c.1417T>C (p.Ser473Pro)
c.1426T>C (p.Ser476Pro)
c.1570T>C (p.Ser524Pro)
c.*1279T>C (n.*1279T>C)
c.1552T>C (p.Ser518Pro)
c.1612T>C (p.Ser538Pro)
n.1488T>C
c.1534T>C (p.Ser512Pro)
c.1804T>C (p.Ser602Pro)
c.1813T>C (p.Ser605Pro)
c.1159T>C (p.Ser387Pro)
c.1603T>C (p.Ser535Pro)
9g.135770347T>GCA375506383KCNT1c.1669T>G (p.Ser557Ala)
c.1510T>G (p.Ser504Ala)
c.1417T>G (p.Ser473Ala)
c.1426T>G (p.Ser476Ala)
c.1570T>G (p.Ser524Ala)
c.*1279T>G (n.*1279T>G)
c.1552T>G (p.Ser518Ala)
c.1612T>G (p.Ser538Ala)
n.1488T>G
c.1534T>G (p.Ser512Ala)
c.1804T>G (p.Ser602Ala)
c.1813T>G (p.Ser605Ala)
c.1159T>G (p.Ser387Ala)
c.1603T>G (p.Ser535Ala)
9g.135770348C>ACA375506386KCNT1c.1670C>A (p.Ser557Tyr)
c.1511C>A (p.Ser504Tyr)
c.1418C>A (p.Ser473Tyr)
c.1427C>A (p.Ser476Tyr)
c.1571C>A (p.Ser524Tyr)
c.*1280C>A (n.*1280C>A)
c.1553C>A (p.Ser518Tyr)
c.1613C>A (p.Ser538Tyr)
n.1489C>A
c.1535C>A (p.Ser512Tyr)
c.1805C>A (p.Ser602Tyr)
c.1814C>A (p.Ser605Tyr)
c.1160C>A (p.Ser387Tyr)
c.1604C>A (p.Ser535Tyr)
9g.135770348C>GCA375506388KCNT1c.1670C>G (p.Ser557Cys)
c.1511C>G (p.Ser504Cys)
c.1418C>G (p.Ser473Cys)
c.1427C>G (p.Ser476Cys)
c.1571C>G (p.Ser524Cys)
c.*1280C>G (n.*1280C>G)
c.1553C>G (p.Ser518Cys)
c.1613C>G (p.Ser538Cys)
n.1489C>G
c.1535C>G (p.Ser512Cys)
c.1805C>G (p.Ser602Cys)
c.1814C>G (p.Ser605Cys)
c.1160C>G (p.Ser387Cys)
c.1604C>G (p.Ser535Cys)
9g.135770348C>TCA375506391KCNT1c.1670C>T (p.Ser557Phe)
c.1511C>T (p.Ser504Phe)
c.1418C>T (p.Ser473Phe)
c.1427C>T (p.Ser476Phe)
c.1571C>T (p.Ser524Phe)
c.*1280C>T (n.*1280C>T)
c.1553C>T (p.Ser518Phe)
c.1613C>T (p.Ser538Phe)
n.1489C>T
c.1535C>T (p.Ser512Phe)
c.1805C>T (p.Ser602Phe)
c.1814C>T (p.Ser605Phe)
c.1160C>T (p.Ser387Phe)
c.1604C>T (p.Ser535Phe)
9g.135770349C>ACA467698518KCNT1c.1671C>A (p.Ser557=)
c.1512C>A (p.Ser504=)
c.1419C>A (p.Ser473=)
c.1428C>A (p.Ser476=)
c.1572C>A (p.Ser524=)
c.*1281C>A (n.*1281C>A)
c.1554C>A (p.Ser518=)
c.1614C>A (p.Ser538=)
n.1490C>A
c.1536C>A (p.Ser512=)
c.1806C>A (p.Ser602=)
c.1815C>A (p.Ser605=)
c.1161C>A (p.Ser387=)
c.1605C>A (p.Ser535=)
9g.135770349C=CA1883873327KCNT1c.1671C= (p.Ser557=)
c.1512C= (p.Ser504=)
c.1419C= (p.Ser473=)
c.1428C= (p.Ser476=)
c.1572C= (p.Ser524=)
c.*1281C= (n.*1281C=)
c.1554C= (p.Ser518=)
c.1614C= (p.Ser538=)
n.1490C=
c.1536C= (p.Ser512=)
c.1806C= (p.Ser602=)
c.1815C= (p.Ser605=)
c.1161C= (p.Ser387=)
c.1605C= (p.Ser535=)
9g.135770349C>GCA467698519KCNT1c.1671C>G (p.Ser557=)
c.1512C>G (p.Ser504=)
c.1419C>G (p.Ser473=)
c.1428C>G (p.Ser476=)
c.1572C>G (p.Ser524=)
c.*1281C>G (n.*1281C>G)
c.1554C>G (p.Ser518=)
c.1614C>G (p.Ser538=)
n.1490C>G
c.1536C>G (p.Ser512=)
c.1806C>G (p.Ser602=)
c.1815C>G (p.Ser605=)
c.1161C>G (p.Ser387=)
c.1605C>G (p.Ser535=)
9g.135770349C>TCA5327022KCNT1c.1671C>T (p.Ser557=)
c.1512C>T (p.Ser504=)
c.1419C>T (p.Ser473=)
c.1428C>T (p.Ser476=)
c.1572C>T (p.Ser524=)
c.*1281C>T (n.*1281C>T)
c.1554C>T (p.Ser518=)
c.1614C>T (p.Ser538=)
n.1490C>T
c.1536C>T (p.Ser512=)
c.1806C>T (p.Ser602=)
c.1815C>T (p.Ser605=)
c.1161C>T (p.Ser387=)
c.1605C>T (p.Ser535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770350G>ACA375506399KCNT1c.1672G>A (p.Gly558Ser)
c.1513G>A (p.Gly505Ser)
c.1420G>A (p.Gly474Ser)
c.1429G>A (p.Gly477Ser)
c.1573G>A (p.Gly525Ser)
c.*1282G>A (n.*1282G>A)
c.1555G>A (p.Gly519Ser)
c.1615G>A (p.Gly539Ser)
n.1491G>A
c.1537G>A (p.Gly513Ser)
c.1807G>A (p.Gly603Ser)
c.1816G>A (p.Gly606Ser)
c.1162G>A (p.Gly388Ser)
c.1606G>A (p.Gly536Ser)
 gnomAD v4
9g.135770350G>CCA375506400KCNT1c.1672G>C (p.Gly558Arg)
c.1513G>C (p.Gly505Arg)
c.1420G>C (p.Gly474Arg)
c.1429G>C (p.Gly477Arg)
c.1573G>C (p.Gly525Arg)
c.*1282G>C (n.*1282G>C)
c.1555G>C (p.Gly519Arg)
c.1615G>C (p.Gly539Arg)
n.1491G>C
c.1537G>C (p.Gly513Arg)
c.1807G>C (p.Gly603Arg)
c.1816G>C (p.Gly606Arg)
c.1162G>C (p.Gly388Arg)
c.1606G>C (p.Gly536Arg)
9g.135770350G=CA1883873333KCNT1c.1672G= (p.Gly558=)
c.1513G= (p.Gly505=)
c.1420G= (p.Gly474=)
c.1429G= (p.Gly477=)
c.1573G= (p.Gly525=)
c.*1282G= (n.*1282G=)
c.1555G= (p.Gly519=)
c.1615G= (p.Gly539=)
n.1491G=
c.1537G= (p.Gly513=)
c.1807G= (p.Gly603=)
c.1816G= (p.Gly606=)
c.1162G= (p.Gly388=)
c.1606G= (p.Gly536=)
9g.135770350G>TCA375506397KCNT1c.1672G>T (p.Gly558Cys)
c.1513G>T (p.Gly505Cys)
c.1420G>T (p.Gly474Cys)
c.1429G>T (p.Gly477Cys)
c.1573G>T (p.Gly525Cys)
c.*1282G>T (n.*1282G>T)
c.1555G>T (p.Gly519Cys)
c.1615G>T (p.Gly539Cys)
n.1491G>T
c.1537G>T (p.Gly513Cys)
c.1807G>T (p.Gly603Cys)
c.1816G>T (p.Gly606Cys)
c.1162G>T (p.Gly388Cys)
c.1606G>T (p.Gly536Cys)
 ClinVar dbSNP
9g.135770351G>ACA375506405KCNT1c.1673G>A (p.Gly558Asp)
c.1514G>A (p.Gly505Asp)
c.1421G>A (p.Gly474Asp)
c.1430G>A (p.Gly477Asp)
c.1574G>A (p.Gly525Asp)
c.*1283G>A (n.*1283G>A)
c.1556G>A (p.Gly519Asp)
c.1616G>A (p.Gly539Asp)
n.1492G>A
c.1538G>A (p.Gly513Asp)
c.1808G>A (p.Gly603Asp)
c.1817G>A (p.Gly606Asp)
c.1163G>A (p.Gly388Asp)
c.1607G>A (p.Gly536Asp)
9g.135770351G>CCA375506407KCNT1c.1673G>C (p.Gly558Ala)
c.1514G>C (p.Gly505Ala)
c.1421G>C (p.Gly474Ala)
c.1430G>C (p.Gly477Ala)
c.1574G>C (p.Gly525Ala)
c.*1283G>C (n.*1283G>C)
c.1556G>C (p.Gly519Ala)
c.1616G>C (p.Gly539Ala)
n.1492G>C
c.1538G>C (p.Gly513Ala)
c.1808G>C (p.Gly603Ala)
c.1817G>C (p.Gly606Ala)
c.1163G>C (p.Gly388Ala)
c.1607G>C (p.Gly536Ala)
9g.135770351G=CA1883873343KCNT1c.1673G= (p.Gly558=)
c.1514G= (p.Gly505=)
c.1421G= (p.Gly474=)
c.1430G= (p.Gly477=)
c.1574G= (p.Gly525=)
c.*1283G= (n.*1283G=)
c.1556G= (p.Gly519=)
c.1616G= (p.Gly539=)
n.1492G=
c.1538G= (p.Gly513=)
c.1808G= (p.Gly603=)
c.1817G= (p.Gly606=)
c.1163G= (p.Gly388=)
c.1607G= (p.Gly536=)
9g.135770351G>TCA5327023KCNT1c.1673G>T (p.Gly558Val)
c.1514G>T (p.Gly505Val)
c.1421G>T (p.Gly474Val)
c.1430G>T (p.Gly477Val)
c.1574G>T (p.Gly525Val)
c.*1283G>T (n.*1283G>T)
c.1556G>T (p.Gly519Val)
c.1616G>T (p.Gly539Val)
n.1492G>T
c.1538G>T (p.Gly513Val)
c.1808G>T (p.Gly603Val)
c.1817G>T (p.Gly606Val)
c.1163G>T (p.Gly388Val)
c.1607G>T (p.Gly536Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770352C>ACA467698520KCNT1c.1674C>A (p.Gly558=)
c.1515C>A (p.Gly505=)
c.1422C>A (p.Gly474=)
c.1431C>A (p.Gly477=)
c.1575C>A (p.Gly525=)
c.*1284C>A (n.*1284C>A)
c.1557C>A (p.Gly519=)
c.1617C>A (p.Gly539=)
n.1493C>A
c.1539C>A (p.Gly513=)
c.1809C>A (p.Gly603=)
c.1818C>A (p.Gly606=)
c.1164C>A (p.Gly388=)
c.1608C>A (p.Gly536=)
9g.135770352C>GCA467698521KCNT1c.1674C>G (p.Gly558=)
c.1515C>G (p.Gly505=)
c.1422C>G (p.Gly474=)
c.1431C>G (p.Gly477=)
c.1575C>G (p.Gly525=)
c.*1284C>G (n.*1284C>G)
c.1557C>G (p.Gly519=)
c.1617C>G (p.Gly539=)
n.1493C>G
c.1539C>G (p.Gly513=)
c.1809C>G (p.Gly603=)
c.1818C>G (p.Gly606=)
c.1164C>G (p.Gly388=)
c.1608C>G (p.Gly536=)
9g.135770352C>TCA467698522KCNT1c.1674C>T (p.Gly558=)
c.1515C>T (p.Gly505=)
c.1422C>T (p.Gly474=)
c.1431C>T (p.Gly477=)
c.1575C>T (p.Gly525=)
c.*1284C>T (n.*1284C>T)
c.1557C>T (p.Gly519=)
c.1617C>T (p.Gly539=)
n.1493C>T
c.1539C>T (p.Gly513=)
c.1809C>T (p.Gly603=)
c.1818C>T (p.Gly606=)
c.1164C>T (p.Gly388=)
c.1608C>T (p.Gly536=)
9g.135770353A>CCA375506408KCNT1c.1675A>C (p.Asn559His)
c.1516A>C (p.Asn506His)
c.1423A>C (p.Asn475His)
c.1432A>C (p.Asn478His)
c.1576A>C (p.Asn526His)
c.*1285A>C (n.*1285A>C)
c.1558A>C (p.Asn520His)
c.1618A>C (p.Asn540His)
n.1494A>C
c.1540A>C (p.Asn514His)
c.1810A>C (p.Asn604His)
c.1819A>C (p.Asn607His)
c.1165A>C (p.Asn389His)
c.1609A>C (p.Asn537His)
 ClinVar
9g.135770353A>GCA375506411KCNT1c.1675A>G (p.Asn559Asp)
c.1516A>G (p.Asn506Asp)
c.1423A>G (p.Asn475Asp)
c.1432A>G (p.Asn478Asp)
c.1576A>G (p.Asn526Asp)
c.*1285A>G (n.*1285A>G)
c.1558A>G (p.Asn520Asp)
c.1618A>G (p.Asn540Asp)
n.1494A>G
c.1540A>G (p.Asn514Asp)
c.1810A>G (p.Asn604Asp)
c.1819A>G (p.Asn607Asp)
c.1165A>G (p.Asn389Asp)
c.1609A>G (p.Asn537Asp)
 gnomAD v4
9g.135770353A>TCA375506413KCNT1c.1675A>T (p.Asn559Tyr)
c.1516A>T (p.Asn506Tyr)
c.1423A>T (p.Asn475Tyr)
c.1432A>T (p.Asn478Tyr)
c.1576A>T (p.Asn526Tyr)
c.*1285A>T (n.*1285A>T)
c.1558A>T (p.Asn520Tyr)
c.1618A>T (p.Asn540Tyr)
n.1494A>T
c.1540A>T (p.Asn514Tyr)
c.1810A>T (p.Asn604Tyr)
c.1819A>T (p.Asn607Tyr)
c.1165A>T (p.Asn389Tyr)
c.1609A>T (p.Asn537Tyr)
9g.135770354A>CCA375506422KCNT1c.1676A>C (p.Asn559Thr)
c.1517A>C (p.Asn506Thr)
c.1424A>C (p.Asn475Thr)
c.1433A>C (p.Asn478Thr)
c.1577A>C (p.Asn526Thr)
c.*1286A>C (n.*1286A>C)
c.1559A>C (p.Asn520Thr)
c.1619A>C (p.Asn540Thr)
n.1495A>C
c.1541A>C (p.Asn514Thr)
c.1811A>C (p.Asn604Thr)
c.1820A>C (p.Asn607Thr)
c.1166A>C (p.Asn389Thr)
c.1610A>C (p.Asn537Thr)
9g.135770354A>GCA375506416KCNT1c.1676A>G (p.Asn559Ser)
c.1517A>G (p.Asn506Ser)
c.1424A>G (p.Asn475Ser)
c.1433A>G (p.Asn478Ser)
c.1577A>G (p.Asn526Ser)
c.*1286A>G (n.*1286A>G)
c.1559A>G (p.Asn520Ser)
c.1619A>G (p.Asn540Ser)
n.1495A>G
c.1541A>G (p.Asn514Ser)
c.1811A>G (p.Asn604Ser)
c.1820A>G (p.Asn607Ser)
c.1166A>G (p.Asn389Ser)
c.1610A>G (p.Asn537Ser)
 gnomAD v4
9g.135770354A>TCA375506419KCNT1c.1676A>T (p.Asn559Ile)
c.1517A>T (p.Asn506Ile)
c.1424A>T (p.Asn475Ile)
c.1433A>T (p.Asn478Ile)
c.1577A>T (p.Asn526Ile)
c.*1286A>T (n.*1286A>T)
c.1559A>T (p.Asn520Ile)
c.1619A>T (p.Asn540Ile)
n.1495A>T
c.1541A>T (p.Asn514Ile)
c.1811A>T (p.Asn604Ile)
c.1820A>T (p.Asn607Ile)
c.1166A>T (p.Asn389Ile)
c.1610A>T (p.Asn537Ile)
9g.135770355C>ACA375506425KCNT1c.1677C>A (p.Asn559Lys)
c.1518C>A (p.Asn506Lys)
c.1425C>A (p.Asn475Lys)
c.1434C>A (p.Asn478Lys)
c.1578C>A (p.Asn526Lys)
c.*1287C>A (n.*1287C>A)
c.1560C>A (p.Asn520Lys)
c.1620C>A (p.Asn540Lys)
n.1496C>A
c.1542C>A (p.Asn514Lys)
c.1812C>A (p.Asn604Lys)
c.1821C>A (p.Asn607Lys)
c.1167C>A (p.Asn389Lys)
c.1611C>A (p.Asn537Lys)
 gnomAD v4
9g.135770355C=CA1883873349KCNT1c.1677C= (p.Asn559=)
c.1518C= (p.Asn506=)
c.1425C= (p.Asn475=)
c.1434C= (p.Asn478=)
c.1578C= (p.Asn526=)
c.*1287C= (n.*1287C=)
c.1560C= (p.Asn520=)
c.1620C= (p.Asn540=)
n.1496C=
c.1542C= (p.Asn514=)
c.1812C= (p.Asn604=)
c.1821C= (p.Asn607=)
c.1167C= (p.Asn389=)
c.1611C= (p.Asn537=)
9g.135770355C>GCA375506428KCNT1c.1677C>G (p.Asn559Lys)
c.1518C>G (p.Asn506Lys)
c.1425C>G (p.Asn475Lys)
c.1434C>G (p.Asn478Lys)
c.1578C>G (p.Asn526Lys)
c.*1287C>G (n.*1287C>G)
c.1560C>G (p.Asn520Lys)
c.1620C>G (p.Asn540Lys)
n.1496C>G
c.1542C>G (p.Asn514Lys)
c.1812C>G (p.Asn604Lys)
c.1821C>G (p.Asn607Lys)
c.1167C>G (p.Asn389Lys)
c.1611C>G (p.Asn537Lys)
9g.135770355C>TCA201472930KCNT1c.1677C>T (p.Asn559=)
c.1518C>T (p.Asn506=)
c.1425C>T (p.Asn475=)
c.1434C>T (p.Asn478=)
c.1578C>T (p.Asn526=)
c.*1287C>T (n.*1287C>T)
c.1560C>T (p.Asn520=)
c.1620C>T (p.Asn540=)
n.1496C>T
c.1542C>T (p.Asn514=)
c.1812C>T (p.Asn604=)
c.1821C>T (p.Asn607=)
c.1167C>T (p.Asn389=)
c.1611C>T (p.Asn537=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770356G>ACA5327024KCNT1c.1678G>A (p.Glu560Lys)
c.1519G>A (p.Glu507Lys)
c.1426G>A (p.Glu476Lys)
c.1435G>A (p.Glu479Lys)
c.1579G>A (p.Glu527Lys)
c.*1288G>A (n.*1288G>A)
c.1561G>A (p.Glu521Lys)
c.1621G>A (p.Glu541Lys)
n.1497G>A
c.1543G>A (p.Glu515Lys)
c.1813G>A (p.Glu605Lys)
c.1822G>A (p.Glu608Lys)
c.1168G>A (p.Glu390Lys)
c.1612G>A (p.Glu538Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770356G>CCA375506432KCNT1c.1678G>C (p.Glu560Gln)
c.1519G>C (p.Glu507Gln)
c.1426G>C (p.Glu476Gln)
c.1435G>C (p.Glu479Gln)
c.1579G>C (p.Glu527Gln)
c.*1288G>C (n.*1288G>C)
c.1561G>C (p.Glu521Gln)
c.1621G>C (p.Glu541Gln)
n.1497G>C
c.1543G>C (p.Glu515Gln)
c.1813G>C (p.Glu605Gln)
c.1822G>C (p.Glu608Gln)
c.1168G>C (p.Glu390Gln)
c.1612G>C (p.Glu538Gln)
 gnomAD v4
9g.135770356G=CA1883873371KCNT1c.1678G= (p.Glu560=)
c.1519G= (p.Glu507=)
c.1426G= (p.Glu476=)
c.1435G= (p.Glu479=)
c.1579G= (p.Glu527=)
c.*1288G= (n.*1288G=)
c.1561G= (p.Glu521=)
c.1621G= (p.Glu541=)
n.1497G=
c.1543G= (p.Glu515=)
c.1813G= (p.Glu605=)
c.1822G= (p.Glu608=)
c.1168G= (p.Glu390=)
c.1612G= (p.Glu538=)
9g.135770356G>TCA375506436KCNT1c.1678G>T (p.Glu560Ter)
c.1519G>T (p.Glu507Ter)
c.1426G>T (p.Glu476Ter)
c.1435G>T (p.Glu479Ter)
c.1579G>T (p.Glu527Ter)
c.*1288G>T (n.*1288G>T)
c.1561G>T (p.Glu521Ter)
c.1621G>T (p.Glu541Ter)
n.1497G>T
c.1543G>T (p.Glu515Ter)
c.1813G>T (p.Glu605Ter)
c.1822G>T (p.Glu608Ter)
c.1168G>T (p.Glu390Ter)
c.1612G>T (p.Glu538Ter)
9g.135770357A>CCA375506444KCNT1c.1679A>C (p.Glu560Ala)
c.1520A>C (p.Glu507Ala)
c.1427A>C (p.Glu476Ala)
c.1436A>C (p.Glu479Ala)
c.1580A>C (p.Glu527Ala)
c.*1289A>C (n.*1289A>C)
c.1562A>C (p.Glu521Ala)
c.1622A>C (p.Glu541Ala)
n.1498A>C
c.1544A>C (p.Glu515Ala)
c.1814A>C (p.Glu605Ala)
c.1823A>C (p.Glu608Ala)
c.1169A>C (p.Glu390Ala)
c.1613A>C (p.Glu538Ala)
9g.135770357A>GCA375506439KCNT1c.1679A>G (p.Glu560Gly)
c.1520A>G (p.Glu507Gly)
c.1427A>G (p.Glu476Gly)
c.1436A>G (p.Glu479Gly)
c.1580A>G (p.Glu527Gly)
c.*1289A>G (n.*1289A>G)
c.1562A>G (p.Glu521Gly)
c.1622A>G (p.Glu541Gly)
n.1498A>G
c.1544A>G (p.Glu515Gly)
c.1814A>G (p.Glu605Gly)
c.1823A>G (p.Glu608Gly)
c.1169A>G (p.Glu390Gly)
c.1613A>G (p.Glu538Gly)
 COSMIC COSMIC
9g.135770357A>TCA375506442KCNT1c.1679A>T (p.Glu560Val)
c.1520A>T (p.Glu507Val)
c.1427A>T (p.Glu476Val)
c.1436A>T (p.Glu479Val)
c.1580A>T (p.Glu527Val)
c.*1289A>T (n.*1289A>T)
c.1562A>T (p.Glu521Val)
c.1622A>T (p.Glu541Val)
n.1498A>T
c.1544A>T (p.Glu515Val)
c.1814A>T (p.Glu605Val)
c.1823A>T (p.Glu608Val)
c.1169A>T (p.Glu390Val)
c.1613A>T (p.Glu538Val)
9g.135770358G>ACA5327025KCNT1c.1680G>A (p.Glu560=)
c.1521G>A (p.Glu507=)
c.1428G>A (p.Glu476=)
c.1437G>A (p.Glu479=)
c.1581G>A (p.Glu527=)
c.*1290G>A (n.*1290G>A)
c.1563G>A (p.Glu521=)
c.1623G>A (p.Glu541=)
n.1499G>A
c.1545G>A (p.Glu515=)
c.1815G>A (p.Glu605=)
c.1824G>A (p.Glu608=)
c.1170G>A (p.Glu390=)
c.1614G>A (p.Glu538=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770358G>CCA375506447KCNT1c.1680G>C (p.Glu560Asp)
c.1521G>C (p.Glu507Asp)
c.1428G>C (p.Glu476Asp)
c.1437G>C (p.Glu479Asp)
c.1581G>C (p.Glu527Asp)
c.*1290G>C (n.*1290G>C)
c.1563G>C (p.Glu521Asp)
c.1623G>C (p.Glu541Asp)
n.1499G>C
c.1545G>C (p.Glu515Asp)
c.1815G>C (p.Glu605Asp)
c.1824G>C (p.Glu608Asp)
c.1170G>C (p.Glu390Asp)
c.1614G>C (p.Glu538Asp)
9g.135770358G=CA1883873380KCNT1c.1680G= (p.Glu560=)
c.1521G= (p.Glu507=)
c.1428G= (p.Glu476=)
c.1437G= (p.Glu479=)
c.1581G= (p.Glu527=)
c.*1290G= (n.*1290G=)
c.1563G= (p.Glu521=)
c.1623G= (p.Glu541=)
n.1499G=
c.1545G= (p.Glu515=)
c.1815G= (p.Glu605=)
c.1824G= (p.Glu608=)
c.1170G= (p.Glu390=)
c.1614G= (p.Glu538=)
9g.135770358G>TCA375506448KCNT1c.1680G>T (p.Glu560Asp)
c.1521G>T (p.Glu507Asp)
c.1428G>T (p.Glu476Asp)
c.1437G>T (p.Glu479Asp)
c.1581G>T (p.Glu527Asp)
c.*1290G>T (n.*1290G>T)
c.1563G>T (p.Glu521Asp)
c.1623G>T (p.Glu541Asp)
n.1499G>T
c.1545G>T (p.Glu515Asp)
c.1815G>T (p.Glu605Asp)
c.1824G>T (p.Glu608Asp)
c.1170G>T (p.Glu390Asp)
c.1614G>T (p.Glu538Asp)
9g.135770359G>ACA375506449KCNT1c.1681G>A (p.Val561Met)
c.1522G>A (p.Val508Met)
c.1429G>A (p.Val477Met)
c.1438G>A (p.Val480Met)
c.1582G>A (p.Val528Met)
c.*1291G>A (n.*1291G>A)
c.1564G>A (p.Val522Met)
c.1624G>A (p.Val542Met)
n.1500G>A
c.1546G>A (p.Val516Met)
c.1816G>A (p.Val606Met)
c.1825G>A (p.Val609Met)
c.1171G>A (p.Val391Met)
c.1615G>A (p.Val539Met)
 gnomAD v4
9g.135770359G>CCA375506450KCNT1c.1681G>C (p.Val561Leu)
c.1522G>C (p.Val508Leu)
c.1429G>C (p.Val477Leu)
c.1438G>C (p.Val480Leu)
c.1582G>C (p.Val528Leu)
c.*1291G>C (n.*1291G>C)
c.1564G>C (p.Val522Leu)
c.1624G>C (p.Val542Leu)
n.1500G>C
c.1546G>C (p.Val516Leu)
c.1816G>C (p.Val606Leu)
c.1825G>C (p.Val609Leu)
c.1171G>C (p.Val391Leu)
c.1615G>C (p.Val539Leu)
 gnomAD v4
9g.135770359G>TCA375506451KCNT1c.1681G>T (p.Val561Leu)
c.1522G>T (p.Val508Leu)
c.1429G>T (p.Val477Leu)
c.1438G>T (p.Val480Leu)
c.1582G>T (p.Val528Leu)
c.*1291G>T (n.*1291G>T)
c.1564G>T (p.Val522Leu)
c.1624G>T (p.Val542Leu)
n.1500G>T
c.1546G>T (p.Val516Leu)
c.1816G>T (p.Val606Leu)
c.1825G>T (p.Val609Leu)
c.1171G>T (p.Val391Leu)
c.1615G>T (p.Val539Leu)
9g.135770360T>ACA375506453KCNT1c.1682T>A (p.Val561Glu)
c.1523T>A (p.Val508Glu)
c.1430T>A (p.Val477Glu)
c.1439T>A (p.Val480Glu)
c.1583T>A (p.Val528Glu)
c.*1292T>A (n.*1292T>A)
c.1565T>A (p.Val522Glu)
c.1625T>A (p.Val542Glu)
n.1501T>A
c.1547T>A (p.Val516Glu)
c.1817T>A (p.Val606Glu)
c.1826T>A (p.Val609Glu)
c.1172T>A (p.Val391Glu)
c.1616T>A (p.Val539Glu)
9g.135770360T>CCA375506455KCNT1c.1682T>C (p.Val561Ala)
c.1523T>C (p.Val508Ala)
c.1430T>C (p.Val477Ala)
c.1439T>C (p.Val480Ala)
c.1583T>C (p.Val528Ala)
c.*1292T>C (n.*1292T>C)
c.1565T>C (p.Val522Ala)
c.1625T>C (p.Val542Ala)
n.1501T>C
c.1547T>C (p.Val516Ala)
c.1817T>C (p.Val606Ala)
c.1826T>C (p.Val609Ala)
c.1172T>C (p.Val391Ala)
c.1616T>C (p.Val539Ala)
9g.135770360T>GCA375506456KCNT1c.1682T>G (p.Val561Gly)
c.1523T>G (p.Val508Gly)
c.1430T>G (p.Val477Gly)
c.1439T>G (p.Val480Gly)
c.1583T>G (p.Val528Gly)
c.*1292T>G (n.*1292T>G)
c.1565T>G (p.Val522Gly)
c.1625T>G (p.Val542Gly)
n.1501T>G
c.1547T>G (p.Val516Gly)
c.1817T>G (p.Val606Gly)
c.1826T>G (p.Val609Gly)
c.1172T>G (p.Val391Gly)
c.1616T>G (p.Val539Gly)
9g.135770361G>ACA467698523KCNT1c.1683G>A (p.Val561=)
c.1524G>A (p.Val508=)
c.1431G>A (p.Val477=)
c.1440G>A (p.Val480=)
c.1584G>A (p.Val528=)
c.*1293G>A (n.*1293G>A)
c.1566G>A (p.Val522=)
c.1626G>A (p.Val542=)
n.1502G>A
c.1548G>A (p.Val516=)
c.1818G>A (p.Val606=)
c.1827G>A (p.Val609=)
c.1173G>A (p.Val391=)
c.1617G>A (p.Val539=)
 ClinVar dbSNP gnomAD v4
9g.135770361G>CCA467698525KCNT1c.1683G>C (p.Val561=)
c.1524G>C (p.Val508=)
c.1431G>C (p.Val477=)
c.1440G>C (p.Val480=)
c.1584G>C (p.Val528=)
c.*1293G>C (n.*1293G>C)
c.1566G>C (p.Val522=)
c.1626G>C (p.Val542=)
n.1502G>C
c.1548G>C (p.Val516=)
c.1818G>C (p.Val606=)
c.1827G>C (p.Val609=)
c.1173G>C (p.Val391=)
c.1617G>C (p.Val539=)
 dbSNP gnomAD v2 gnomAD v4
9g.135770361G=CA1883873393KCNT1c.1683G= (p.Val561=)
c.1524G= (p.Val508=)
c.1431G= (p.Val477=)
c.1440G= (p.Val480=)
c.1584G= (p.Val528=)
c.*1293G= (n.*1293G=)
c.1566G= (p.Val522=)
c.1626G= (p.Val542=)
n.1502G=
c.1548G= (p.Val516=)
c.1818G= (p.Val606=)
c.1827G= (p.Val609=)
c.1173G= (p.Val391=)
c.1617G= (p.Val539=)
9g.135770361G>TCA467698524KCNT1c.1683G>T (p.Val561=)
c.1524G>T (p.Val508=)
c.1431G>T (p.Val477=)
c.1440G>T (p.Val480=)
c.1584G>T (p.Val528=)
c.*1293G>T (n.*1293G>T)
c.1566G>T (p.Val522=)
c.1626G>T (p.Val542=)
n.1502G>T
c.1548G>T (p.Val516=)
c.1818G>T (p.Val606=)
c.1827G>T (p.Val609=)
c.1173G>T (p.Val391=)
c.1617G>T (p.Val539=)
9g.135770362T>ACA375506458KCNT1c.1684T>A (p.Tyr562Asn)
c.1525T>A (p.Tyr509Asn)
c.1432T>A (p.Tyr478Asn)
c.1441T>A (p.Tyr481Asn)
c.1585T>A (p.Tyr529Asn)
c.*1294T>A (n.*1294T>A)
c.1567T>A (p.Tyr523Asn)
c.1627T>A (p.Tyr543Asn)
n.1503T>A
c.1549T>A (p.Tyr517Asn)
c.1819T>A (p.Tyr607Asn)
c.1828T>A (p.Tyr610Asn)
c.1174T>A (p.Tyr392Asn)
c.1618T>A (p.Tyr540Asn)
9g.135770362T>CCA375506460KCNT1c.1684T>C (p.Tyr562His)
c.1525T>C (p.Tyr509His)
c.1432T>C (p.Tyr478His)
c.1441T>C (p.Tyr481His)
c.1585T>C (p.Tyr529His)
c.*1294T>C (n.*1294T>C)
c.1567T>C (p.Tyr523His)
c.1627T>C (p.Tyr543His)
n.1503T>C
c.1549T>C (p.Tyr517His)
c.1819T>C (p.Tyr607His)
c.1828T>C (p.Tyr610His)
c.1174T>C (p.Tyr392His)
c.1618T>C (p.Tyr540His)
 ClinVar
9g.135770362T>GCA375506461KCNT1c.1684T>G (p.Tyr562Asp)
c.1525T>G (p.Tyr509Asp)
c.1432T>G (p.Tyr478Asp)
c.1441T>G (p.Tyr481Asp)
c.1585T>G (p.Tyr529Asp)
c.*1294T>G (n.*1294T>G)
c.1567T>G (p.Tyr523Asp)
c.1627T>G (p.Tyr543Asp)
n.1503T>G
c.1549T>G (p.Tyr517Asp)
c.1819T>G (p.Tyr607Asp)
c.1828T>G (p.Tyr610Asp)
c.1174T>G (p.Tyr392Asp)
c.1618T>G (p.Tyr540Asp)
9g.135770363A=CA1883873401KCNT1c.1685A= (p.Tyr562=)
c.1526A= (p.Tyr509=)
c.1433A= (p.Tyr478=)
c.1442A= (p.Tyr481=)
c.1586A= (p.Tyr529=)
c.*1295A= (n.*1295A=)
c.1568A= (p.Tyr523=)
c.1628A= (p.Tyr543=)
n.1504A=
c.1550A= (p.Tyr517=)
c.1820A= (p.Tyr607=)
c.1829A= (p.Tyr610=)
c.1175A= (p.Tyr392=)
c.1619A= (p.Tyr540=)
9g.135770363A>CCA375506463KCNT1c.1685A>C (p.Tyr562Ser)
c.1526A>C (p.Tyr509Ser)
c.1433A>C (p.Tyr478Ser)
c.1442A>C (p.Tyr481Ser)
c.1586A>C (p.Tyr529Ser)
c.*1295A>C (n.*1295A>C)
c.1568A>C (p.Tyr523Ser)
c.1628A>C (p.Tyr543Ser)
n.1504A>C
c.1550A>C (p.Tyr517Ser)
c.1820A>C (p.Tyr607Ser)
c.1829A>C (p.Tyr610Ser)
c.1175A>C (p.Tyr392Ser)
c.1619A>C (p.Tyr540Ser)
9g.135770363A>GCA375506467KCNT1c.1685A>G (p.Tyr562Cys)
c.1526A>G (p.Tyr509Cys)
c.1433A>G (p.Tyr478Cys)
c.1442A>G (p.Tyr481Cys)
c.1586A>G (p.Tyr529Cys)
c.*1295A>G (n.*1295A>G)
c.1568A>G (p.Tyr523Cys)
c.1628A>G (p.Tyr543Cys)
n.1504A>G
c.1550A>G (p.Tyr517Cys)
c.1820A>G (p.Tyr607Cys)
c.1829A>G (p.Tyr610Cys)
c.1175A>G (p.Tyr392Cys)
c.1619A>G (p.Tyr540Cys)
 ClinVar dbSNP
9g.135770363A>TCA375506465KCNT1c.1685A>T (p.Tyr562Phe)
c.1526A>T (p.Tyr509Phe)
c.1433A>T (p.Tyr478Phe)
c.1442A>T (p.Tyr481Phe)
c.1586A>T (p.Tyr529Phe)
c.*1295A>T (n.*1295A>T)
c.1568A>T (p.Tyr523Phe)
c.1628A>T (p.Tyr543Phe)
n.1504A>T
c.1550A>T (p.Tyr517Phe)
c.1820A>T (p.Tyr607Phe)
c.1829A>T (p.Tyr610Phe)
c.1175A>T (p.Tyr392Phe)
c.1619A>T (p.Tyr540Phe)
9g.135770364C>ACA375506469KCNT1c.1686C>A (p.Tyr562Ter)
c.1527C>A (p.Tyr509Ter)
c.1434C>A (p.Tyr478Ter)
c.1443C>A (p.Tyr481Ter)
c.1587C>A (p.Tyr529Ter)
c.*1296C>A (n.*1296C>A)
c.1569C>A (p.Tyr523Ter)
c.1629C>A (p.Tyr543Ter)
n.1505C>A
c.1551C>A (p.Tyr517Ter)
c.1821C>A (p.Tyr607Ter)
c.1830C>A (p.Tyr610Ter)
c.1176C>A (p.Tyr392Ter)
c.1620C>A (p.Tyr540Ter)
9g.135770364C=CA1883873407KCNT1c.1686C= (p.Tyr562=)
c.1527C= (p.Tyr509=)
c.1434C= (p.Tyr478=)
c.1443C= (p.Tyr481=)
c.1587C= (p.Tyr529=)
c.*1296C= (n.*1296C=)
c.1569C= (p.Tyr523=)
c.1629C= (p.Tyr543=)
n.1505C=
c.1551C= (p.Tyr517=)
c.1821C= (p.Tyr607=)
c.1830C= (p.Tyr610=)
c.1176C= (p.Tyr392=)
c.1620C= (p.Tyr540=)
9g.135770364C>GCA5327026KCNT1c.1686C>G (p.Tyr562Ter)
c.1527C>G (p.Tyr509Ter)
c.1434C>G (p.Tyr478Ter)
c.1443C>G (p.Tyr481Ter)
c.1587C>G (p.Tyr529Ter)
c.*1296C>G (n.*1296C>G)
c.1569C>G (p.Tyr523Ter)
c.1629C>G (p.Tyr543Ter)
n.1505C>G
c.1551C>G (p.Tyr517Ter)
c.1821C>G (p.Tyr607Ter)
c.1830C>G (p.Tyr610Ter)
c.1176C>G (p.Tyr392Ter)
c.1620C>G (p.Tyr540Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770364C>TCA467698526KCNT1c.1686C>T (p.Tyr562=)
c.1527C>T (p.Tyr509=)
c.1434C>T (p.Tyr478=)
c.1443C>T (p.Tyr481=)
c.1587C>T (p.Tyr529=)
c.*1296C>T (n.*1296C>T)
c.1569C>T (p.Tyr523=)
c.1629C>T (p.Tyr543=)
n.1505C>T
c.1551C>T (p.Tyr517=)
c.1821C>T (p.Tyr607=)
c.1830C>T (p.Tyr610=)
c.1176C>T (p.Tyr392=)
c.1620C>T (p.Tyr540=)
 ClinVar dbSNP gnomAD v3
9g.135770365C>ACA375506473KCNT1c.1687C>A (p.His563Asn)
c.1528C>A (p.His510Asn)
c.1435C>A (p.His479Asn)
c.1444C>A (p.His482Asn)
c.1588C>A (p.His530Asn)
c.*1297C>A (n.*1297C>A)
c.1570C>A (p.His524Asn)
c.1630C>A (p.His544Asn)
n.1506C>A
c.1552C>A (p.His518Asn)
c.1822C>A (p.His608Asn)
c.1831C>A (p.His611Asn)
c.1177C>A (p.His393Asn)
c.1621C>A (p.His541Asn)
 gnomAD v4
9g.135770365C=CA1883873413KCNT1c.1687C= (p.His563=)
c.1528C= (p.His510=)
c.1435C= (p.His479=)
c.1444C= (p.His482=)
c.1588C= (p.His530=)
c.*1297C= (n.*1297C=)
c.1570C= (p.His524=)
c.1630C= (p.His544=)
n.1506C=
c.1552C= (p.His518=)
c.1822C= (p.His608=)
c.1831C= (p.His611=)
c.1177C= (p.His393=)
c.1621C= (p.His541=)
9g.135770365C>GCA375506476KCNT1c.1687C>G (p.His563Asp)
c.1528C>G (p.His510Asp)
c.1435C>G (p.His479Asp)
c.1444C>G (p.His482Asp)
c.1588C>G (p.His530Asp)
c.*1297C>G (n.*1297C>G)
c.1570C>G (p.His524Asp)
c.1630C>G (p.His544Asp)
n.1506C>G
c.1552C>G (p.His518Asp)
c.1822C>G (p.His608Asp)
c.1831C>G (p.His611Asp)
c.1177C>G (p.His393Asp)
c.1621C>G (p.His541Asp)
9g.135770365C>TCA375506479KCNT1c.1687C>T (p.His563Tyr)
c.1528C>T (p.His510Tyr)
c.1435C>T (p.His479Tyr)
c.1444C>T (p.His482Tyr)
c.1588C>T (p.His530Tyr)
c.*1297C>T (n.*1297C>T)
c.1570C>T (p.His524Tyr)
c.1630C>T (p.His544Tyr)
n.1506C>T
c.1552C>T (p.His518Tyr)
c.1822C>T (p.His608Tyr)
c.1831C>T (p.His611Tyr)
c.1177C>T (p.His393Tyr)
c.1621C>T (p.His541Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135770366A>CCA375506486KCNT1c.1688A>C (p.His563Pro)
c.1529A>C (p.His510Pro)
c.1436A>C (p.His479Pro)
c.1445A>C (p.His482Pro)
c.1589A>C (p.His530Pro)
c.*1298A>C (n.*1298A>C)
c.1571A>C (p.His524Pro)
c.1631A>C (p.His544Pro)
n.1507A>C
c.1553A>C (p.His518Pro)
c.1823A>C (p.His608Pro)
c.1832A>C (p.His611Pro)
c.1178A>C (p.His393Pro)
c.1622A>C (p.His541Pro)
9g.135770366A>GCA375506489KCNT1c.1688A>G (p.His563Arg)
c.1529A>G (p.His510Arg)
c.1436A>G (p.His479Arg)
c.1445A>G (p.His482Arg)
c.1589A>G (p.His530Arg)
c.*1298A>G (n.*1298A>G)
c.1571A>G (p.His524Arg)
c.1631A>G (p.His544Arg)
n.1507A>G
c.1553A>G (p.His518Arg)
c.1823A>G (p.His608Arg)
c.1832A>G (p.His611Arg)
c.1178A>G (p.His393Arg)
c.1622A>G (p.His541Arg)
 ClinVar
9g.135770366A>TCA375506491KCNT1c.1688A>T (p.His563Leu)
c.1529A>T (p.His510Leu)
c.1436A>T (p.His479Leu)
c.1445A>T (p.His482Leu)
c.1589A>T (p.His530Leu)
c.*1298A>T (n.*1298A>T)
c.1571A>T (p.His524Leu)
c.1631A>T (p.His544Leu)
n.1507A>T
c.1553A>T (p.His518Leu)
c.1823A>T (p.His608Leu)
c.1832A>T (p.His611Leu)
c.1178A>T (p.His393Leu)
c.1622A>T (p.His541Leu)
9g.135770367C>ACA375506493KCNT1c.1689C>A (p.His563Gln)
c.1530C>A (p.His510Gln)
c.1437C>A (p.His479Gln)
c.1446C>A (p.His482Gln)
c.1590C>A (p.His530Gln)
c.*1299C>A (n.*1299C>A)
c.1572C>A (p.His524Gln)
c.1632C>A (p.His544Gln)
n.1508C>A
c.1554C>A (p.His518Gln)
c.1824C>A (p.His608Gln)
c.1833C>A (p.His611Gln)
c.1179C>A (p.His393Gln)
c.1623C>A (p.His541Gln)
9g.135770367C=CA1883873420KCNT1c.1689C= (p.His563=)
c.1530C= (p.His510=)
c.1437C= (p.His479=)
c.1446C= (p.His482=)
c.1590C= (p.His530=)
c.*1299C= (n.*1299C=)
c.1572C= (p.His524=)
c.1632C= (p.His544=)
n.1508C=
c.1554C= (p.His518=)
c.1824C= (p.His608=)
c.1833C= (p.His611=)
c.1179C= (p.His393=)
c.1623C= (p.His541=)
9g.135770367C>GCA375506496KCNT1c.1689C>G (p.His563Gln)
c.1530C>G (p.His510Gln)
c.1437C>G (p.His479Gln)
c.1446C>G (p.His482Gln)
c.1590C>G (p.His530Gln)
c.*1299C>G (n.*1299C>G)
c.1572C>G (p.His524Gln)
c.1632C>G (p.His544Gln)
n.1508C>G
c.1554C>G (p.His518Gln)
c.1824C>G (p.His608Gln)
c.1833C>G (p.His611Gln)
c.1179C>G (p.His393Gln)
c.1623C>G (p.His541Gln)
9g.135770367C>TCA5327027KCNT1c.1689C>T (p.His563=)
c.1530C>T (p.His510=)
c.1437C>T (p.His479=)
c.1446C>T (p.His482=)
c.1590C>T (p.His530=)
c.*1299C>T (n.*1299C>T)
c.1572C>T (p.His524=)
c.1632C>T (p.His544=)
n.1508C>T
c.1554C>T (p.His518=)
c.1824C>T (p.His608=)
c.1833C>T (p.His611=)
c.1179C>T (p.His393=)
c.1623C>T (p.His541=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770368A>CCA375506509KCNT1c.1690A>C (p.Ile564Leu)
c.1531A>C (p.Ile511Leu)
c.1438A>C (p.Ile480Leu)
c.1447A>C (p.Ile483Leu)
c.1591A>C (p.Ile531Leu)
c.*1300A>C (n.*1300A>C)
c.1573A>C (p.Ile525Leu)
c.1633A>C (p.Ile545Leu)
n.1509A>C
c.1555A>C (p.Ile519Leu)
c.1825A>C (p.Ile609Leu)
c.1834A>C (p.Ile612Leu)
c.1180A>C (p.Ile394Leu)
c.1624A>C (p.Ile542Leu)
9g.135770368A>GCA375506506KCNT1c.1690A>G (p.Ile564Val)
c.1531A>G (p.Ile511Val)
c.1438A>G (p.Ile480Val)
c.1447A>G (p.Ile483Val)
c.1591A>G (p.Ile531Val)
c.*1300A>G (n.*1300A>G)
c.1573A>G (p.Ile525Val)
c.1633A>G (p.Ile545Val)
n.1509A>G
c.1555A>G (p.Ile519Val)
c.1825A>G (p.Ile609Val)
c.1834A>G (p.Ile612Val)
c.1180A>G (p.Ile394Val)
c.1624A>G (p.Ile542Val)
9g.135770368A>TCA375506503KCNT1c.1690A>T (p.Ile564Phe)
c.1531A>T (p.Ile511Phe)
c.1438A>T (p.Ile480Phe)
c.1447A>T (p.Ile483Phe)
c.1591A>T (p.Ile531Phe)
c.*1300A>T (n.*1300A>T)
c.1573A>T (p.Ile525Phe)
c.1633A>T (p.Ile545Phe)
n.1509A>T
c.1555A>T (p.Ile519Phe)
c.1825A>T (p.Ile609Phe)
c.1834A>T (p.Ile612Phe)
c.1180A>T (p.Ile394Phe)
c.1624A>T (p.Ile542Phe)
9g.135770369T>ACA375506512KCNT1c.1691T>A (p.Ile564Asn)
c.1532T>A (p.Ile511Asn)
c.1439T>A (p.Ile480Asn)
c.1448T>A (p.Ile483Asn)
c.1592T>A (p.Ile531Asn)
c.*1301T>A (n.*1301T>A)
c.1574T>A (p.Ile525Asn)
c.1634T>A (p.Ile545Asn)
n.1510T>A
c.1556T>A (p.Ile519Asn)
c.1826T>A (p.Ile609Asn)
c.1835T>A (p.Ile612Asn)
c.1181T>A (p.Ile394Asn)
c.1625T>A (p.Ile542Asn)
9g.135770369T>CCA375506515KCNT1c.1691T>C (p.Ile564Thr)
c.1532T>C (p.Ile511Thr)
c.1439T>C (p.Ile480Thr)
c.1448T>C (p.Ile483Thr)
c.1592T>C (p.Ile531Thr)
c.*1301T>C (n.*1301T>C)
c.1574T>C (p.Ile525Thr)
c.1634T>C (p.Ile545Thr)
n.1510T>C
c.1556T>C (p.Ile519Thr)
c.1826T>C (p.Ile609Thr)
c.1835T>C (p.Ile612Thr)
c.1181T>C (p.Ile394Thr)
c.1625T>C (p.Ile542Thr)
9g.135770369T>GCA375506518KCNT1c.1691T>G (p.Ile564Ser)
c.1532T>G (p.Ile511Ser)
c.1439T>G (p.Ile480Ser)
c.1448T>G (p.Ile483Ser)
c.1592T>G (p.Ile531Ser)
c.*1301T>G (n.*1301T>G)
c.1574T>G (p.Ile525Ser)
c.1634T>G (p.Ile545Ser)
n.1510T>G
c.1556T>G (p.Ile519Ser)
c.1826T>G (p.Ile609Ser)
c.1835T>G (p.Ile612Ser)
c.1181T>G (p.Ile394Ser)
c.1625T>G (p.Ile542Ser)
9g.135770370C>ACA467698527KCNT1c.1692C>A (p.Ile564=)
c.1533C>A (p.Ile511=)
c.1440C>A (p.Ile480=)
c.1449C>A (p.Ile483=)
c.1593C>A (p.Ile531=)
c.*1302C>A (n.*1302C>A)
c.1575C>A (p.Ile525=)
c.1635C>A (p.Ile545=)
n.1511C>A
c.1557C>A (p.Ile519=)
c.1827C>A (p.Ile609=)
c.1836C>A (p.Ile612=)
c.1182C>A (p.Ile394=)
c.1626C>A (p.Ile542=)
9g.135770370C=CA1883873425KCNT1c.1692C= (p.Ile564=)
c.1533C= (p.Ile511=)
c.1440C= (p.Ile480=)
c.1449C= (p.Ile483=)
c.1593C= (p.Ile531=)
c.*1302C= (n.*1302C=)
c.1575C= (p.Ile525=)
c.1635C= (p.Ile545=)
n.1511C=
c.1557C= (p.Ile519=)
c.1827C= (p.Ile609=)
c.1836C= (p.Ile612=)
c.1182C= (p.Ile394=)
c.1626C= (p.Ile542=)
9g.135770370C>GCA375506522KCNT1c.1692C>G (p.Ile564Met)
c.1533C>G (p.Ile511Met)
c.1440C>G (p.Ile480Met)
c.1449C>G (p.Ile483Met)
c.1593C>G (p.Ile531Met)
c.*1302C>G (n.*1302C>G)
c.1575C>G (p.Ile525Met)
c.1635C>G (p.Ile545Met)
n.1511C>G
c.1557C>G (p.Ile519Met)
c.1827C>G (p.Ile609Met)
c.1836C>G (p.Ile612Met)
c.1182C>G (p.Ile394Met)
c.1626C>G (p.Ile542Met)
 dbSNP
9g.135770370C>TCA467698528KCNT1c.1692C>T (p.Ile564=)
c.1533C>T (p.Ile511=)
c.1440C>T (p.Ile480=)
c.1449C>T (p.Ile483=)
c.1593C>T (p.Ile531=)
c.*1302C>T (n.*1302C>T)
c.1575C>T (p.Ile525=)
c.1635C>T (p.Ile545=)
n.1511C>T
c.1557C>T (p.Ile519=)
c.1827C>T (p.Ile609=)
c.1836C>T (p.Ile612=)
c.1182C>T (p.Ile394=)
c.1626C>T (p.Ile542=)
9g.135770371C>ACA375506525KCNT1c.1693C>A (p.Arg565Ser)
c.1534C>A (p.Arg512Ser)
c.1441C>A (p.Arg481Ser)
c.1450C>A (p.Arg484Ser)
c.1594C>A (p.Arg532Ser)
c.*1303C>A (n.*1303C>A)
c.1576C>A (p.Arg526Ser)
c.1636C>A (p.Arg546Ser)
n.1512C>A
c.1558C>A (p.Arg520Ser)
c.1828C>A (p.Arg610Ser)
c.1837C>A (p.Arg613Ser)
c.1183C>A (p.Arg395Ser)
c.1627C>A (p.Arg543Ser)
9g.135770371C=CA1883873431KCNT1c.1693C= (p.Arg565=)
c.1534C= (p.Arg512=)
c.1441C= (p.Arg481=)
c.1450C= (p.Arg484=)
c.1594C= (p.Arg532=)
c.*1303C= (n.*1303C=)
c.1576C= (p.Arg526=)
c.1636C= (p.Arg546=)
n.1512C=
c.1558C= (p.Arg520=)
c.1828C= (p.Arg610=)
c.1837C= (p.Arg613=)
c.1183C= (p.Arg395=)
c.1627C= (p.Arg543=)
9g.135770371C>GCA375506527KCNT1c.1693C>G (p.Arg565Gly)
c.1534C>G (p.Arg512Gly)
c.1441C>G (p.Arg481Gly)
c.1450C>G (p.Arg484Gly)
c.1594C>G (p.Arg532Gly)
c.*1303C>G (n.*1303C>G)
c.1576C>G (p.Arg526Gly)
c.1636C>G (p.Arg546Gly)
n.1512C>G
c.1558C>G (p.Arg520Gly)
c.1828C>G (p.Arg610Gly)
c.1837C>G (p.Arg613Gly)
c.1183C>G (p.Arg395Gly)
c.1627C>G (p.Arg543Gly)
9g.135770371C>TCA5327028KCNT1c.1693C>T (p.Arg565Cys)
c.1534C>T (p.Arg512Cys)
c.1441C>T (p.Arg481Cys)
c.1450C>T (p.Arg484Cys)
c.1594C>T (p.Arg532Cys)
c.*1303C>T (n.*1303C>T)
c.1576C>T (p.Arg526Cys)
c.1636C>T (p.Arg546Cys)
n.1512C>T
c.1558C>T (p.Arg520Cys)
c.1828C>T (p.Arg610Cys)
c.1837C>T (p.Arg613Cys)
c.1183C>T (p.Arg395Cys)
c.1627C>T (p.Arg543Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770372G>ACA5327029KCNT1c.1694G>A (p.Arg565His)
c.1535G>A (p.Arg512His)
c.1442G>A (p.Arg481His)
c.1451G>A (p.Arg484His)
c.1595G>A (p.Arg532His)
c.*1304G>A (n.*1304G>A)
c.1577G>A (p.Arg526His)
c.1637G>A (p.Arg546His)
n.1513G>A
c.1559G>A (p.Arg520His)
c.1829G>A (p.Arg610His)
c.1838G>A (p.Arg613His)
c.1184G>A (p.Arg395His)
c.1628G>A (p.Arg543His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135770372G>CCA375506534KCNT1c.1694G>C (p.Arg565Pro)
c.1535G>C (p.Arg512Pro)
c.1442G>C (p.Arg481Pro)
c.1451G>C (p.Arg484Pro)
c.1595G>C (p.Arg532Pro)
c.*1304G>C (n.*1304G>C)
c.1577G>C (p.Arg526Pro)
c.1637G>C (p.Arg546Pro)
n.1513G>C
c.1559G>C (p.Arg520Pro)
c.1829G>C (p.Arg610Pro)
c.1838G>C (p.Arg613Pro)
c.1184G>C (p.Arg395Pro)
c.1628G>C (p.Arg543Pro)
 dbSNP gnomAD v2
9g.135770372G=CA1883873443KCNT1c.1694G= (p.Arg565=)
c.1535G= (p.Arg512=)
c.1442G= (p.Arg481=)
c.1451G= (p.Arg484=)
c.1595G= (p.Arg532=)
c.*1304G= (n.*1304G=)
c.1577G= (p.Arg526=)
c.1637G= (p.Arg546=)
n.1513G=
c.1559G= (p.Arg520=)
c.1829G= (p.Arg610=)
c.1838G= (p.Arg613=)
c.1184G= (p.Arg395=)
c.1628G= (p.Arg543=)
9g.135770372G>TCA5327030KCNT1c.1694G>T (p.Arg565Leu)
c.1535G>T (p.Arg512Leu)
c.1442G>T (p.Arg481Leu)
c.1451G>T (p.Arg484Leu)
c.1595G>T (p.Arg532Leu)
c.*1304G>T (n.*1304G>T)
c.1577G>T (p.Arg526Leu)
c.1637G>T (p.Arg546Leu)
n.1513G>T
c.1559G>T (p.Arg520Leu)
c.1829G>T (p.Arg610Leu)
c.1838G>T (p.Arg613Leu)
c.1184G>T (p.Arg395Leu)
c.1628G>T (p.Arg543Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770373C>ACA5327031KCNT1c.1695C>A (p.Arg565=)
c.1536C>A (p.Arg512=)
c.1443C>A (p.Arg481=)
c.1452C>A (p.Arg484=)
c.1596C>A (p.Arg532=)
c.*1305C>A (n.*1305C>A)
c.1578C>A (p.Arg526=)
c.1638C>A (p.Arg546=)
n.1514C>A
c.1560C>A (p.Arg520=)
c.1830C>A (p.Arg610=)
c.1839C>A (p.Arg613=)
c.1185C>A (p.Arg395=)
c.1629C>A (p.Arg543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770373C=CA1883873452KCNT1c.1695C= (p.Arg565=)
c.1536C= (p.Arg512=)
c.1443C= (p.Arg481=)
c.1452C= (p.Arg484=)
c.1596C= (p.Arg532=)
c.*1305C= (n.*1305C=)
c.1578C= (p.Arg526=)
c.1638C= (p.Arg546=)
n.1514C=
c.1560C= (p.Arg520=)
c.1830C= (p.Arg610=)
c.1839C= (p.Arg613=)
c.1185C= (p.Arg395=)
c.1629C= (p.Arg543=)
9g.135770373C>GCA467698529KCNT1c.1695C>G (p.Arg565=)
c.1536C>G (p.Arg512=)
c.1443C>G (p.Arg481=)
c.1452C>G (p.Arg484=)
c.1596C>G (p.Arg532=)
c.*1305C>G (n.*1305C>G)
c.1578C>G (p.Arg526=)
c.1638C>G (p.Arg546=)
n.1514C>G
c.1560C>G (p.Arg520=)
c.1830C>G (p.Arg610=)
c.1839C>G (p.Arg613=)
c.1185C>G (p.Arg395=)
c.1629C>G (p.Arg543=)
9g.135770373C>TCA5327032KCNT1c.1695C>T (p.Arg565=)
c.1536C>T (p.Arg512=)
c.1443C>T (p.Arg481=)
c.1452C>T (p.Arg484=)
c.1596C>T (p.Arg532=)
c.*1305C>T (n.*1305C>T)
c.1578C>T (p.Arg526=)
c.1638C>T (p.Arg546=)
n.1514C>T
c.1560C>T (p.Arg520=)
c.1830C>T (p.Arg610=)
c.1839C>T (p.Arg613=)
c.1185C>T (p.Arg395=)
c.1629C>T (p.Arg543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770374A=CA1883873458KCNT1c.1696A= (p.Met566=)
c.1537A= (p.Met513=)
c.1444A= (p.Met482=)
c.1453A= (p.Met485=)
c.1597A= (p.Met533=)
c.*1306A= (n.*1306A=)
c.1579A= (p.Met527=)
c.1639A= (p.Met547=)
n.1515A=
c.1561A= (p.Met521=)
c.1831A= (p.Met611=)
c.1840A= (p.Met614=)
c.1186A= (p.Met396=)
c.1630A= (p.Met544=)
9g.135770374A>CCA375506543KCNT1c.1696A>C (p.Met566Leu)
c.1537A>C (p.Met513Leu)
c.1444A>C (p.Met482Leu)
c.1453A>C (p.Met485Leu)
c.1597A>C (p.Met533Leu)
c.*1306A>C (n.*1306A>C)
c.1579A>C (p.Met527Leu)
c.1639A>C (p.Met547Leu)
n.1515A>C
c.1561A>C (p.Met521Leu)
c.1831A>C (p.Met611Leu)
c.1840A>C (p.Met614Leu)
c.1186A>C (p.Met396Leu)
c.1630A>C (p.Met544Leu)
 dbSNP gnomAD v4
9g.135770374A>GCA375506549KCNT1c.1696A>G (p.Met566Val)
c.1537A>G (p.Met513Val)
c.1444A>G (p.Met482Val)
c.1453A>G (p.Met485Val)
c.1597A>G (p.Met533Val)
c.*1306A>G (n.*1306A>G)
c.1579A>G (p.Met527Val)
c.1639A>G (p.Met547Val)
n.1515A>G
c.1561A>G (p.Met521Val)
c.1831A>G (p.Met611Val)
c.1840A>G (p.Met614Val)
c.1186A>G (p.Met396Val)
c.1630A>G (p.Met544Val)
 ClinVar dbSNP gnomAD v4
9g.135770374A>TCA375506547KCNT1c.1696A>T (p.Met566Leu)
c.1537A>T (p.Met513Leu)
c.1444A>T (p.Met482Leu)
c.1453A>T (p.Met485Leu)
c.1597A>T (p.Met533Leu)
c.*1306A>T (n.*1306A>T)
c.1579A>T (p.Met527Leu)
c.1639A>T (p.Met547Leu)
n.1515A>T
c.1561A>T (p.Met521Leu)
c.1831A>T (p.Met611Leu)
c.1840A>T (p.Met614Leu)
c.1186A>T (p.Met396Leu)
c.1630A>T (p.Met544Leu)
9g.135770375T>ACA375506552KCNT1c.1697T>A (p.Met566Lys)
c.1538T>A (p.Met513Lys)
c.1445T>A (p.Met482Lys)
c.1454T>A (p.Met485Lys)
c.1598T>A (p.Met533Lys)
c.*1307T>A (n.*1307T>A)
c.1580T>A (p.Met527Lys)
c.1640T>A (p.Met547Lys)
n.1516T>A
c.1562T>A (p.Met521Lys)
c.1832T>A (p.Met611Lys)
c.1841T>A (p.Met614Lys)
c.1187T>A (p.Met396Lys)
c.1631T>A (p.Met544Lys)
9g.135770375T>CCA375506558KCNT1c.1697T>C (p.Met566Thr)
c.1538T>C (p.Met513Thr)
c.1445T>C (p.Met482Thr)
c.1454T>C (p.Met485Thr)
c.1598T>C (p.Met533Thr)
c.*1307T>C (n.*1307T>C)
c.1580T>C (p.Met527Thr)
c.1640T>C (p.Met547Thr)
n.1516T>C
c.1562T>C (p.Met521Thr)
c.1832T>C (p.Met611Thr)
c.1841T>C (p.Met614Thr)
c.1187T>C (p.Met396Thr)
c.1631T>C (p.Met544Thr)
 ClinVar dbSNP
9g.135770375T>GCA375506555KCNT1c.1697T>G (p.Met566Arg)
c.1538T>G (p.Met513Arg)
c.1445T>G (p.Met482Arg)
c.1454T>G (p.Met485Arg)
c.1598T>G (p.Met533Arg)
c.*1307T>G (n.*1307T>G)
c.1580T>G (p.Met527Arg)
c.1640T>G (p.Met547Arg)
n.1516T>G
c.1562T>G (p.Met521Arg)
c.1832T>G (p.Met611Arg)
c.1841T>G (p.Met614Arg)
c.1187T>G (p.Met396Arg)
c.1631T>G (p.Met544Arg)
9g.135770375T=CA1883873462KCNT1c.1697T= (p.Met566=)
c.1538T= (p.Met513=)
c.1445T= (p.Met482=)
c.1454T= (p.Met485=)
c.1598T= (p.Met533=)
c.*1307T= (n.*1307T=)
c.1580T= (p.Met527=)
c.1640T= (p.Met547=)
n.1516T=
c.1562T= (p.Met521=)
c.1832T= (p.Met611=)
c.1841T= (p.Met614=)
c.1187T= (p.Met396=)
c.1631T= (p.Met544=)
9g.135770376G>ACA201472956KCNT1c.1698G>A (p.Met566Ile)
c.1539G>A (p.Met513Ile)
c.1446G>A (p.Met482Ile)
c.1455G>A (p.Met485Ile)
c.1599G>A (p.Met533Ile)
c.*1308G>A (n.*1308G>A)
c.1581G>A (p.Met527Ile)
c.1641G>A (p.Met547Ile)
n.1517G>A
c.1563G>A (p.Met521Ile)
c.1833G>A (p.Met611Ile)
c.1842G>A (p.Met614Ile)
c.1188G>A (p.Met396Ile)
c.1632G>A (p.Met544Ile)
 dbSNP gnomAD v4
9g.135770376G>CCA375506566KCNT1c.1698G>C (p.Met566Ile)
c.1539G>C (p.Met513Ile)
c.1446G>C (p.Met482Ile)
c.1455G>C (p.Met485Ile)
c.1599G>C (p.Met533Ile)
c.*1308G>C (n.*1308G>C)
c.1581G>C (p.Met527Ile)
c.1641G>C (p.Met547Ile)
n.1517G>C
c.1563G>C (p.Met521Ile)
c.1833G>C (p.Met611Ile)
c.1842G>C (p.Met614Ile)
c.1188G>C (p.Met396Ile)
c.1632G>C (p.Met544Ile)
9g.135770376G=CA1883873478KCNT1c.1698G= (p.Met566=)
c.1539G= (p.Met513=)
c.1446G= (p.Met482=)
c.1455G= (p.Met485=)
c.1599G= (p.Met533=)
c.*1308G= (n.*1308G=)
c.1581G= (p.Met527=)
c.1641G= (p.Met547=)
n.1517G=
c.1563G= (p.Met521=)
c.1833G= (p.Met611=)
c.1842G= (p.Met614=)
c.1188G= (p.Met396=)
c.1632G= (p.Met544=)
9g.135770376G>TCA375506563KCNT1c.1698G>T (p.Met566Ile)
c.1539G>T (p.Met513Ile)
c.1446G>T (p.Met482Ile)
c.1455G>T (p.Met485Ile)
c.1599G>T (p.Met533Ile)
c.*1308G>T (n.*1308G>T)
c.1581G>T (p.Met527Ile)
c.1641G>T (p.Met547Ile)
n.1517G>T
c.1563G>T (p.Met521Ile)
c.1833G>T (p.Met611Ile)
c.1842G>T (p.Met614Ile)
c.1188G>T (p.Met396Ile)
c.1632G>T (p.Met544Ile)
 gnomAD v4 COSMIC COSMIC
9g.135770376_135770377delinsGGCA1883873477KCNT1c.1698_1699delinsGG (p.Met566=)
c.1539_1540delinsGG (p.Met513=)
c.1446_1447delinsGG (p.Met482=)
c.1455_1456delinsGG (p.Met485=)
c.1599_1600delinsGG (p.Met533=)
c.*1308_*1309delinsGG (n.*1308_*1309delinsGG)
c.1581_1582delinsGG (p.Met527=)
c.1641_1642delinsGG (p.Met547=)
n.1517_1518delinsGG
c.1563_1564delinsGG (p.Met521=)
c.1833_1834delinsGG (p.Met611=)
c.1842_1843delinsGG (p.Met614=)
c.1188_1189delinsGG (p.Met396=)
c.1632_1633delinsGG (p.Met544=)
9g.135770376_135770377delinsTACA658797373KCNT1c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer)
c.1539_1540delinsTA (p.Met513_Gly514delinsIleSer)
c.1446_1447delinsTA (p.Met482_Gly483delinsIleSer)
c.1455_1456delinsTA (p.Met485_Gly486delinsIleSer)
c.1599_1600delinsTA (p.Met533_Gly534delinsIleSer)
c.*1308_*1309delinsTA (n.*1308_*1309delinsTA)
c.1581_1582delinsTA (p.Met527_Gly528delinsIleSer)
c.1641_1642delinsTA (p.Met547_Gly548delinsIleSer)
n.1517_1518delinsTA
c.1563_1564delinsTA (p.Met521_Gly522delinsIleSer)
c.1833_1834delinsTA (p.Met611_Gly612delinsIleSer)
c.1842_1843delinsTA (p.Met614_Gly615delinsIleSer)
c.1188_1189delinsTA (p.Met396_Gly397delinsIleSer)
c.1632_1633delinsTA (p.Met544_Gly545delinsIleSer)
 ClinVar dbSNP
9g.135770377G>ACA375506570KCNT1c.1699G>A (p.Gly567Ser)
c.1540G>A (p.Gly514Ser)
c.1447G>A (p.Gly483Ser)
c.1456G>A (p.Gly486Ser)
c.1600G>A (p.Gly534Ser)
c.*1309G>A (n.*1309G>A)
c.1582G>A (p.Gly528Ser)
c.1642G>A (p.Gly548Ser)
n.1518G>A
c.1564G>A (p.Gly522Ser)
c.1834G>A (p.Gly612Ser)
c.1843G>A (p.Gly615Ser)
c.1189G>A (p.Gly397Ser)
c.1633G>A (p.Gly545Ser)
 gnomAD v4
9g.135770377G>CCA375506575KCNT1c.1699G>C (p.Gly567Arg)
c.1540G>C (p.Gly514Arg)
c.1447G>C (p.Gly483Arg)
c.1456G>C (p.Gly486Arg)
c.1600G>C (p.Gly534Arg)
c.*1309G>C (n.*1309G>C)
c.1582G>C (p.Gly528Arg)
c.1642G>C (p.Gly548Arg)
n.1518G>C
c.1564G>C (p.Gly522Arg)
c.1834G>C (p.Gly612Arg)
c.1843G>C (p.Gly615Arg)
c.1189G>C (p.Gly397Arg)
c.1633G>C (p.Gly545Arg)
9g.135770377G>TCA375506573KCNT1c.1699G>T (p.Gly567Cys)
c.1540G>T (p.Gly514Cys)
c.1447G>T (p.Gly483Cys)
c.1456G>T (p.Gly486Cys)
c.1600G>T (p.Gly534Cys)
c.*1309G>T (n.*1309G>T)
c.1582G>T (p.Gly528Cys)
c.1642G>T (p.Gly548Cys)
n.1518G>T
c.1564G>T (p.Gly522Cys)
c.1834G>T (p.Gly612Cys)
c.1843G>T (p.Gly615Cys)
c.1189G>T (p.Gly397Cys)
c.1633G>T (p.Gly545Cys)
9g.135770378G>ACA375506578KCNT1c.1700G>A (p.Gly567Asp)
c.1541G>A (p.Gly514Asp)
c.1448G>A (p.Gly483Asp)
c.1457G>A (p.Gly486Asp)
c.1601G>A (p.Gly534Asp)
c.*1310G>A (n.*1310G>A)
c.1583G>A (p.Gly528Asp)
c.1643G>A (p.Gly548Asp)
n.1519G>A
c.1565G>A (p.Gly522Asp)
c.1835G>A (p.Gly612Asp)
c.1844G>A (p.Gly615Asp)
c.1190G>A (p.Gly397Asp)
c.1634G>A (p.Gly545Asp)
9g.135770378G>CCA375506580KCNT1c.1700G>C (p.Gly567Ala)
c.1541G>C (p.Gly514Ala)
c.1448G>C (p.Gly483Ala)
c.1457G>C (p.Gly486Ala)
c.1601G>C (p.Gly534Ala)
c.*1310G>C (n.*1310G>C)
c.1583G>C (p.Gly528Ala)
c.1643G>C (p.Gly548Ala)
n.1519G>C
c.1565G>C (p.Gly522Ala)
c.1835G>C (p.Gly612Ala)
c.1844G>C (p.Gly615Ala)
c.1190G>C (p.Gly397Ala)
c.1634G>C (p.Gly545Ala)
9g.135770378G=CA1883873486KCNT1c.1700G= (p.Gly567=)
c.1541G= (p.Gly514=)
c.1448G= (p.Gly483=)
c.1457G= (p.Gly486=)
c.1601G= (p.Gly534=)
c.*1310G= (n.*1310G=)
c.1583G= (p.Gly528=)
c.1643G= (p.Gly548=)
n.1519G=
c.1565G= (p.Gly522=)
c.1835G= (p.Gly612=)
c.1844G= (p.Gly615=)
c.1190G= (p.Gly397=)
c.1634G= (p.Gly545=)
9g.135770378G>TCA5327033KCNT1c.1700G>T (p.Gly567Val)
c.1541G>T (p.Gly514Val)
c.1448G>T (p.Gly483Val)
c.1457G>T (p.Gly486Val)
c.1601G>T (p.Gly534Val)
c.*1310G>T (n.*1310G>T)
c.1583G>T (p.Gly528Val)
c.1643G>T (p.Gly548Val)
n.1519G>T
c.1565G>T (p.Gly522Val)
c.1835G>T (p.Gly612Val)
c.1844G>T (p.Gly615Val)
c.1190G>T (p.Gly397Val)
c.1634G>T (p.Gly545Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770379T>ACA467698530KCNT1c.1701T>A (p.Gly567=)
c.1542T>A (p.Gly514=)
c.1449T>A (p.Gly483=)
c.1458T>A (p.Gly486=)
c.1602T>A (p.Gly534=)
c.*1311T>A (n.*1311T>A)
c.1584T>A (p.Gly528=)
c.1644T>A (p.Gly548=)
n.1520T>A
c.1566T>A (p.Gly522=)
c.1836T>A (p.Gly612=)
c.1845T>A (p.Gly615=)
c.1191T>A (p.Gly397=)
c.1635T>A (p.Gly545=)
9g.135770379T>CCA467698531KCNT1c.1701T>C (p.Gly567=)
c.1542T>C (p.Gly514=)
c.1449T>C (p.Gly483=)
c.1458T>C (p.Gly486=)
c.1602T>C (p.Gly534=)
c.*1311T>C (n.*1311T>C)
c.1584T>C (p.Gly528=)
c.1644T>C (p.Gly548=)
n.1520T>C
c.1566T>C (p.Gly522=)
c.1836T>C (p.Gly612=)
c.1845T>C (p.Gly615=)
c.1191T>C (p.Gly397=)
c.1635T>C (p.Gly545=)
9g.135770379T>GCA467698532KCNT1c.1701T>G (p.Gly567=)
c.1542T>G (p.Gly514=)
c.1449T>G (p.Gly483=)
c.1458T>G (p.Gly486=)
c.1602T>G (p.Gly534=)
c.*1311T>G (n.*1311T>G)
c.1584T>G (p.Gly528=)
c.1644T>G (p.Gly548=)
n.1520T>G
c.1566T>G (p.Gly522=)
c.1836T>G (p.Gly612=)
c.1845T>G (p.Gly615=)
c.1191T>G (p.Gly397=)
c.1635T>G (p.Gly545=)
9g.135770380G>ACA375506584KCNT1c.1702G>A (p.Asp568Asn)
c.1543G>A (p.Asp515Asn)
c.1450G>A (p.Asp484Asn)
c.1459G>A (p.Asp487Asn)
c.1603G>A (p.Asp535Asn)
c.*1312G>A (n.*1312G>A)
c.1585G>A (p.Asp529Asn)
c.1645G>A (p.Asp549Asn)
n.1521G>A
c.1567G>A (p.Asp523Asn)
c.1837G>A (p.Asp613Asn)
c.1846G>A (p.Asp616Asn)
c.1192G>A (p.Asp398Asn)
c.1636G>A (p.Asp546Asn)
9g.135770380G>CCA375506585KCNT1c.1702G>C (p.Asp568His)
c.1543G>C (p.Asp515His)
c.1450G>C (p.Asp484His)
c.1459G>C (p.Asp487His)
c.1603G>C (p.Asp535His)
c.*1312G>C (n.*1312G>C)
c.1585G>C (p.Asp529His)
c.1645G>C (p.Asp549His)
n.1521G>C
c.1567G>C (p.Asp523His)
c.1837G>C (p.Asp613His)
c.1846G>C (p.Asp616His)
c.1192G>C (p.Asp398His)
c.1636G>C (p.Asp546His)
9g.135770380G>TCA375506588KCNT1c.1702G>T (p.Asp568Tyr)
c.1543G>T (p.Asp515Tyr)
c.1450G>T (p.Asp484Tyr)
c.1459G>T (p.Asp487Tyr)
c.1603G>T (p.Asp535Tyr)
c.*1312G>T (n.*1312G>T)
c.1585G>T (p.Asp529Tyr)
c.1645G>T (p.Asp549Tyr)
n.1521G>T
c.1567G>T (p.Asp523Tyr)
c.1837G>T (p.Asp613Tyr)
c.1846G>T (p.Asp616Tyr)
c.1192G>T (p.Asp398Tyr)
c.1636G>T (p.Asp546Tyr)
9g.135770381A=CA1883873491KCNT1c.1703A= (p.Asp568=)
c.1544A= (p.Asp515=)
c.1451A= (p.Asp484=)
c.1460A= (p.Asp487=)
c.1604A= (p.Asp535=)
c.*1313A= (n.*1313A=)
c.1586A= (p.Asp529=)
c.1646A= (p.Asp549=)
n.1522A=
c.1568A= (p.Asp523=)
c.1838A= (p.Asp613=)
c.1847A= (p.Asp616=)
c.1193A= (p.Asp398=)
c.1637A= (p.Asp546=)
9g.135770381A>CCA375506590KCNT1c.1703A>C (p.Asp568Ala)
c.1544A>C (p.Asp515Ala)
c.1451A>C (p.Asp484Ala)
c.1460A>C (p.Asp487Ala)
c.1604A>C (p.Asp535Ala)
c.*1313A>C (n.*1313A>C)
c.1586A>C (p.Asp529Ala)
c.1646A>C (p.Asp549Ala)
n.1522A>C
c.1568A>C (p.Asp523Ala)
c.1838A>C (p.Asp613Ala)
c.1847A>C (p.Asp616Ala)
c.1193A>C (p.Asp398Ala)
c.1637A>C (p.Asp546Ala)
9g.135770381A>GCA5327034KCNT1c.1703A>G (p.Asp568Gly)
c.1544A>G (p.Asp515Gly)
c.1451A>G (p.Asp484Gly)
c.1460A>G (p.Asp487Gly)
c.1604A>G (p.Asp535Gly)
c.*1313A>G (n.*1313A>G)
c.1586A>G (p.Asp529Gly)
c.1646A>G (p.Asp549Gly)
n.1522A>G
c.1568A>G (p.Asp523Gly)
c.1838A>G (p.Asp613Gly)
c.1847A>G (p.Asp616Gly)
c.1193A>G (p.Asp398Gly)
c.1637A>G (p.Asp546Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770381A>TCA375506592KCNT1c.1703A>T (p.Asp568Val)
c.1544A>T (p.Asp515Val)
c.1451A>T (p.Asp484Val)
c.1460A>T (p.Asp487Val)
c.1604A>T (p.Asp535Val)
c.*1313A>T (n.*1313A>T)
c.1586A>T (p.Asp529Val)
c.1646A>T (p.Asp549Val)
n.1522A>T
c.1568A>T (p.Asp523Val)
c.1838A>T (p.Asp613Val)
c.1847A>T (p.Asp616Val)
c.1193A>T (p.Asp398Val)
c.1637A>T (p.Asp546Val)
9g.135770382C>ACA375506595KCNT1c.1704C>A (p.Asp568Glu)
c.1545C>A (p.Asp515Glu)
c.1452C>A (p.Asp484Glu)
c.1461C>A (p.Asp487Glu)
c.1605C>A (p.Asp535Glu)
c.*1314C>A (n.*1314C>A)
c.1587C>A (p.Asp529Glu)
c.1647C>A (p.Asp549Glu)
n.1523C>A
c.1569C>A (p.Asp523Glu)
c.1839C>A (p.Asp613Glu)
c.1848C>A (p.Asp616Glu)
c.1194C>A (p.Asp398Glu)
c.1638C>A (p.Asp546Glu)
9g.135770382C=CA1883873497KCNT1c.1704C= (p.Asp568=)
c.1545C= (p.Asp515=)
c.1452C= (p.Asp484=)
c.1461C= (p.Asp487=)
c.1605C= (p.Asp535=)
c.*1314C= (n.*1314C=)
c.1587C= (p.Asp529=)
c.1647C= (p.Asp549=)
n.1523C=
c.1569C= (p.Asp523=)
c.1839C= (p.Asp613=)
c.1848C= (p.Asp616=)
c.1194C= (p.Asp398=)
c.1638C= (p.Asp546=)
9g.135770382C>GCA375506598KCNT1c.1704C>G (p.Asp568Glu)
c.1545C>G (p.Asp515Glu)
c.1452C>G (p.Asp484Glu)
c.1461C>G (p.Asp487Glu)
c.1605C>G (p.Asp535Glu)
c.*1314C>G (n.*1314C>G)
c.1587C>G (p.Asp529Glu)
c.1647C>G (p.Asp549Glu)
n.1523C>G
c.1569C>G (p.Asp523Glu)
c.1839C>G (p.Asp613Glu)
c.1848C>G (p.Asp616Glu)
c.1194C>G (p.Asp398Glu)
c.1638C>G (p.Asp546Glu)
9g.135770382C>TCA5327035KCNT1c.1704C>T (p.Asp568=)
c.1545C>T (p.Asp515=)
c.1452C>T (p.Asp484=)
c.1461C>T (p.Asp487=)
c.1605C>T (p.Asp535=)
c.*1314C>T (n.*1314C>T)
c.1587C>T (p.Asp529=)
c.1647C>T (p.Asp549=)
n.1523C>T
c.1569C>T (p.Asp523=)
c.1839C>T (p.Asp613=)
c.1848C>T (p.Asp616=)
c.1194C>T (p.Asp398=)
c.1638C>T (p.Asp546=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770383A>CCA375506601KCNT1c.1705A>C (p.Ser569Arg)
c.1546A>C (p.Ser516Arg)
c.1453A>C (p.Ser485Arg)
c.1462A>C (p.Ser488Arg)
c.1606A>C (p.Ser536Arg)
c.*1315A>C (n.*1315A>C)
c.1588A>C (p.Ser530Arg)
c.1648A>C (p.Ser550Arg)
n.1524A>C
c.1570A>C (p.Ser524Arg)
c.1840A>C (p.Ser614Arg)
c.1849A>C (p.Ser617Arg)
c.1195A>C (p.Ser399Arg)
c.1639A>C (p.Ser547Arg)
9g.135770383A>GCA375506613KCNT1c.1705A>G (p.Ser569Gly)
c.1546A>G (p.Ser516Gly)
c.1453A>G (p.Ser485Gly)
c.1462A>G (p.Ser488Gly)
c.1606A>G (p.Ser536Gly)
c.*1315A>G (n.*1315A>G)
c.1588A>G (p.Ser530Gly)
c.1648A>G (p.Ser550Gly)
n.1524A>G
c.1570A>G (p.Ser524Gly)
c.1840A>G (p.Ser614Gly)
c.1849A>G (p.Ser617Gly)
c.1195A>G (p.Ser399Gly)
c.1639A>G (p.Ser547Gly)
 gnomAD v4
9g.135770383A>TCA375506603KCNT1c.1705A>T (p.Ser569Cys)
c.1546A>T (p.Ser516Cys)
c.1453A>T (p.Ser485Cys)
c.1462A>T (p.Ser488Cys)
c.1606A>T (p.Ser536Cys)
c.*1315A>T (n.*1315A>T)
c.1588A>T (p.Ser530Cys)
c.1648A>T (p.Ser550Cys)
n.1524A>T
c.1570A>T (p.Ser524Cys)
c.1840A>T (p.Ser614Cys)
c.1849A>T (p.Ser617Cys)
c.1195A>T (p.Ser399Cys)
c.1639A>T (p.Ser547Cys)
 COSMIC COSMIC
9g.135770384G>ACA5327036KCNT1c.1706G>A (p.Ser569Asn)
c.1547G>A (p.Ser516Asn)
c.1454G>A (p.Ser485Asn)
c.1463G>A (p.Ser488Asn)
c.1607G>A (p.Ser536Asn)
c.*1316G>A (n.*1316G>A)
c.1589G>A (p.Ser530Asn)
c.1649G>A (p.Ser550Asn)
n.1525G>A
c.1571G>A (p.Ser524Asn)
c.1841G>A (p.Ser614Asn)
c.1850G>A (p.Ser617Asn)
c.1196G>A (p.Ser399Asn)
c.1640G>A (p.Ser547Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770384G>CCA375506615KCNT1c.1706G>C (p.Ser569Thr)
c.1547G>C (p.Ser516Thr)
c.1454G>C (p.Ser485Thr)
c.1463G>C (p.Ser488Thr)
c.1607G>C (p.Ser536Thr)
c.*1316G>C (n.*1316G>C)
c.1589G>C (p.Ser530Thr)
c.1649G>C (p.Ser550Thr)
n.1525G>C
c.1571G>C (p.Ser524Thr)
c.1841G>C (p.Ser614Thr)
c.1850G>C (p.Ser617Thr)
c.1196G>C (p.Ser399Thr)
c.1640G>C (p.Ser547Thr)
9g.135770384G=CA1883873501KCNT1c.1706G= (p.Ser569=)
c.1547G= (p.Ser516=)
c.1454G= (p.Ser485=)
c.1463G= (p.Ser488=)
c.1607G= (p.Ser536=)
c.*1316G= (n.*1316G=)
c.1589G= (p.Ser530=)
c.1649G= (p.Ser550=)
n.1525G=
c.1571G= (p.Ser524=)
c.1841G= (p.Ser614=)
c.1850G= (p.Ser617=)
c.1196G= (p.Ser399=)
c.1640G= (p.Ser547=)
9g.135770384G>TCA375506616KCNT1c.1706G>T (p.Ser569Ile)
c.1547G>T (p.Ser516Ile)
c.1454G>T (p.Ser485Ile)
c.1463G>T (p.Ser488Ile)
c.1607G>T (p.Ser536Ile)
c.*1316G>T (n.*1316G>T)
c.1589G>T (p.Ser530Ile)
c.1649G>T (p.Ser550Ile)
n.1525G>T
c.1571G>T (p.Ser524Ile)
c.1841G>T (p.Ser614Ile)
c.1850G>T (p.Ser617Ile)
c.1196G>T (p.Ser399Ile)
c.1640G>T (p.Ser547Ile)
9g.135770385C>ACA375506619KCNT1c.1707C>A (p.Ser569Arg)
c.1548C>A (p.Ser516Arg)
c.1455C>A (p.Ser485Arg)
c.1464C>A (p.Ser488Arg)
c.1608C>A (p.Ser536Arg)
c.*1317C>A (n.*1317C>A)
c.1590C>A (p.Ser530Arg)
c.1650C>A (p.Ser550Arg)
n.1526C>A
c.1572C>A (p.Ser524Arg)
c.1842C>A (p.Ser614Arg)
c.1851C>A (p.Ser617Arg)
c.1197C>A (p.Ser399Arg)
c.1641C>A (p.Ser547Arg)
9g.135770385C>GCA375506620KCNT1c.1707C>G (p.Ser569Arg)
c.1548C>G (p.Ser516Arg)
c.1455C>G (p.Ser485Arg)
c.1464C>G (p.Ser488Arg)
c.1608C>G (p.Ser536Arg)
c.*1317C>G (n.*1317C>G)
c.1590C>G (p.Ser530Arg)
c.1650C>G (p.Ser550Arg)
n.1526C>G
c.1572C>G (p.Ser524Arg)
c.1842C>G (p.Ser614Arg)
c.1851C>G (p.Ser617Arg)
c.1197C>G (p.Ser399Arg)
c.1641C>G (p.Ser547Arg)
9g.135770385C>TCA467698533KCNT1c.1707C>T (p.Ser569=)
c.1548C>T (p.Ser516=)
c.1455C>T (p.Ser485=)
c.1464C>T (p.Ser488=)
c.1608C>T (p.Ser536=)
c.*1317C>T (n.*1317C>T)
c.1590C>T (p.Ser530=)
c.1650C>T (p.Ser550=)
n.1526C>T
c.1572C>T (p.Ser524=)
c.1842C>T (p.Ser614=)
c.1851C>T (p.Ser617=)
c.1197C>T (p.Ser399=)
c.1641C>T (p.Ser547=)
9g.135770386A>CCA375506624KCNT1c.1708A>C (p.Lys570Gln)
c.1549A>C (p.Lys517Gln)
c.1456A>C (p.Lys486Gln)
c.1465A>C (p.Lys489Gln)
c.1609A>C (p.Lys537Gln)
c.*1318A>C (n.*1318A>C)
c.1591A>C (p.Lys531Gln)
c.1651A>C (p.Lys551Gln)
n.1527A>C
c.1573A>C (p.Lys525Gln)
c.1843A>C (p.Lys615Gln)
c.1852A>C (p.Lys618Gln)
c.1198A>C (p.Lys400Gln)
c.1642A>C (p.Lys548Gln)
9g.135770386A>GCA375506628KCNT1c.1708A>G (p.Lys570Glu)
c.1549A>G (p.Lys517Glu)
c.1456A>G (p.Lys486Glu)
c.1465A>G (p.Lys489Glu)
c.1609A>G (p.Lys537Glu)
c.*1318A>G (n.*1318A>G)
c.1591A>G (p.Lys531Glu)
c.1651A>G (p.Lys551Glu)
n.1527A>G
c.1573A>G (p.Lys525Glu)
c.1843A>G (p.Lys615Glu)
c.1852A>G (p.Lys618Glu)
c.1198A>G (p.Lys400Glu)
c.1642A>G (p.Lys548Glu)
9g.135770386A>TCA375506629KCNT1c.1708A>T (p.Lys570Ter)
c.1549A>T (p.Lys517Ter)
c.1456A>T (p.Lys486Ter)
c.1465A>T (p.Lys489Ter)
c.1609A>T (p.Lys537Ter)
c.*1318A>T (n.*1318A>T)
c.1591A>T (p.Lys531Ter)
c.1651A>T (p.Lys551Ter)
n.1527A>T
c.1573A>T (p.Lys525Ter)
c.1843A>T (p.Lys615Ter)
c.1852A>T (p.Lys618Ter)
c.1198A>T (p.Lys400Ter)
c.1642A>T (p.Lys548Ter)
9g.135770387A=CA1883873505KCNT1c.1709A= (p.Lys570=)
c.1550A= (p.Lys517=)
c.1457A= (p.Lys486=)
c.1466A= (p.Lys489=)
c.1610A= (p.Lys537=)
c.*1319A= (n.*1319A=)
c.1592A= (p.Lys531=)
c.1652A= (p.Lys551=)
n.1528A=
c.1574A= (p.Lys525=)
c.1844A= (p.Lys615=)
c.1853A= (p.Lys618=)
c.1199A= (p.Lys400=)
c.1643A= (p.Lys548=)
9g.135770387A>CCA375506633KCNT1c.1709A>C (p.Lys570Thr)
c.1550A>C (p.Lys517Thr)
c.1457A>C (p.Lys486Thr)
c.1466A>C (p.Lys489Thr)
c.1610A>C (p.Lys537Thr)
c.*1319A>C (n.*1319A>C)
c.1592A>C (p.Lys531Thr)
c.1652A>C (p.Lys551Thr)
n.1528A>C
c.1574A>C (p.Lys525Thr)
c.1844A>C (p.Lys615Thr)
c.1853A>C (p.Lys618Thr)
c.1199A>C (p.Lys400Thr)
c.1643A>C (p.Lys548Thr)
9g.135770387A>GCA375506632KCNT1c.1709A>G (p.Lys570Arg)
c.1550A>G (p.Lys517Arg)
c.1457A>G (p.Lys486Arg)
c.1466A>G (p.Lys489Arg)
c.1610A>G (p.Lys537Arg)
c.*1319A>G (n.*1319A>G)
c.1592A>G (p.Lys531Arg)
c.1652A>G (p.Lys551Arg)
n.1528A>G
c.1574A>G (p.Lys525Arg)
c.1844A>G (p.Lys615Arg)
c.1853A>G (p.Lys618Arg)
c.1199A>G (p.Lys400Arg)
c.1643A>G (p.Lys548Arg)
 dbSNP
9g.135770387A>TCA375506631KCNT1c.1709A>T (p.Lys570Met)
c.1550A>T (p.Lys517Met)
c.1457A>T (p.Lys486Met)
c.1466A>T (p.Lys489Met)
c.1610A>T (p.Lys537Met)
c.*1319A>T (n.*1319A>T)
c.1592A>T (p.Lys531Met)
c.1652A>T (p.Lys551Met)
n.1528A>T
c.1574A>T (p.Lys525Met)
c.1844A>T (p.Lys615Met)
c.1853A>T (p.Lys618Met)
c.1199A>T (p.Lys400Met)
c.1643A>T (p.Lys548Met)
9g.135770388G>ACA467698534KCNT1c.1710G>A (p.Lys570=)
c.1551G>A (p.Lys517=)
c.1458G>A (p.Lys486=)
c.1467G>A (p.Lys489=)
c.1611G>A (p.Lys537=)
c.*1320G>A (n.*1320G>A)
c.1593G>A (p.Lys531=)
c.1653G>A (p.Lys551=)
n.1529G>A
c.1575G>A (p.Lys525=)
c.1845G>A (p.Lys615=)
c.1854G>A (p.Lys618=)
c.1200G>A (p.Lys400=)
c.1644G>A (p.Lys548=)
9g.135770388G>CCA375506634KCNT1c.1710G>C (p.Lys570Asn)
c.1551G>C (p.Lys517Asn)
c.1458G>C (p.Lys486Asn)
c.1467G>C (p.Lys489Asn)
c.1611G>C (p.Lys537Asn)
c.*1320G>C (n.*1320G>C)
c.1593G>C (p.Lys531Asn)
c.1653G>C (p.Lys551Asn)
n.1529G>C
c.1575G>C (p.Lys525Asn)
c.1845G>C (p.Lys615Asn)
c.1854G>C (p.Lys618Asn)
c.1200G>C (p.Lys400Asn)
c.1644G>C (p.Lys548Asn)
 gnomAD v4
9g.135770388G>TCA375506635KCNT1c.1710G>T (p.Lys570Asn)
c.1551G>T (p.Lys517Asn)
c.1458G>T (p.Lys486Asn)
c.1467G>T (p.Lys489Asn)
c.1611G>T (p.Lys537Asn)
c.*1320G>T (n.*1320G>T)
c.1593G>T (p.Lys531Asn)
c.1653G>T (p.Lys551Asn)
n.1529G>T
c.1575G>T (p.Lys525Asn)
c.1845G>T (p.Lys615Asn)
c.1854G>T (p.Lys618Asn)
c.1200G>T (p.Lys400Asn)
c.1644G>T (p.Lys548Asn)
9g.135770389T>ACA375506637KCNT1c.1711T>A (p.Phe571Ile)
c.1552T>A (p.Phe518Ile)
c.1459T>A (p.Phe487Ile)
c.1468T>A (p.Phe490Ile)
c.1612T>A (p.Phe538Ile)
c.*1321T>A (n.*1321T>A)
c.1594T>A (p.Phe532Ile)
c.1654T>A (p.Phe552Ile)
n.1530T>A
c.1576T>A (p.Phe526Ile)
c.1846T>A (p.Phe616Ile)
c.1855T>A (p.Phe619Ile)
c.1201T>A (p.Phe401Ile)
c.1645T>A (p.Phe549Ile)
9g.135770389T>CCA375506639KCNT1c.1711T>C (p.Phe571Leu)
c.1552T>C (p.Phe518Leu)
c.1459T>C (p.Phe487Leu)
c.1468T>C (p.Phe490Leu)
c.1612T>C (p.Phe538Leu)
c.*1321T>C (n.*1321T>C)
c.1594T>C (p.Phe532Leu)
c.1654T>C (p.Phe552Leu)
n.1530T>C
c.1576T>C (p.Phe526Leu)
c.1846T>C (p.Phe616Leu)
c.1855T>C (p.Phe619Leu)
c.1201T>C (p.Phe401Leu)
c.1645T>C (p.Phe549Leu)
9g.135770389T>GCA375506641KCNT1c.1711T>G (p.Phe571Val)
c.1552T>G (p.Phe518Val)
c.1459T>G (p.Phe487Val)
c.1468T>G (p.Phe490Val)
c.1612T>G (p.Phe538Val)
c.*1321T>G (n.*1321T>G)
c.1594T>G (p.Phe532Val)
c.1654T>G (p.Phe552Val)
n.1530T>G
c.1576T>G (p.Phe526Val)
c.1846T>G (p.Phe616Val)
c.1855T>G (p.Phe619Val)
c.1201T>G (p.Phe401Val)
c.1645T>G (p.Phe549Val)
9g.135770390T>ACA375506644KCNT1c.1712T>A (p.Phe571Tyr)
c.1553T>A (p.Phe518Tyr)
c.1460T>A (p.Phe487Tyr)
c.1469T>A (p.Phe490Tyr)
c.1613T>A (p.Phe538Tyr)
c.*1322T>A (n.*1322T>A)
c.1595T>A (p.Phe532Tyr)
c.1655T>A (p.Phe552Tyr)
n.1531T>A
c.1577T>A (p.Phe526Tyr)
c.1847T>A (p.Phe616Tyr)
c.1856T>A (p.Phe619Tyr)
c.1202T>A (p.Phe401Tyr)
c.1646T>A (p.Phe549Tyr)
9g.135770390T>CCA375506646KCNT1c.1712T>C (p.Phe571Ser)
c.1553T>C (p.Phe518Ser)
c.1460T>C (p.Phe487Ser)
c.1469T>C (p.Phe490Ser)
c.1613T>C (p.Phe538Ser)
c.*1322T>C (n.*1322T>C)
c.1595T>C (p.Phe532Ser)
c.1655T>C (p.Phe552Ser)
n.1531T>C
c.1577T>C (p.Phe526Ser)
c.1847T>C (p.Phe616Ser)
c.1856T>C (p.Phe619Ser)
c.1202T>C (p.Phe401Ser)
c.1646T>C (p.Phe549Ser)
9g.135770390T>GCA375506648KCNT1c.1712T>G (p.Phe571Cys)
c.1553T>G (p.Phe518Cys)
c.1460T>G (p.Phe487Cys)
c.1469T>G (p.Phe490Cys)
c.1613T>G (p.Phe538Cys)
c.*1322T>G (n.*1322T>G)
c.1595T>G (p.Phe532Cys)
c.1655T>G (p.Phe552Cys)
n.1531T>G
c.1577T>G (p.Phe526Cys)
c.1847T>G (p.Phe616Cys)
c.1856T>G (p.Phe619Cys)
c.1202T>G (p.Phe401Cys)
c.1646T>G (p.Phe549Cys)
9g.135770391C>ACA375506650KCNT1c.1713C>A (p.Phe571Leu)
c.1554C>A (p.Phe518Leu)
c.1461C>A (p.Phe487Leu)
c.1470C>A (p.Phe490Leu)
c.1614C>A (p.Phe538Leu)
c.*1323C>A (n.*1323C>A)
c.1596C>A (p.Phe532Leu)
c.1656C>A (p.Phe552Leu)
n.1532C>A
c.1578C>A (p.Phe526Leu)
c.1848C>A (p.Phe616Leu)
c.1857C>A (p.Phe619Leu)
c.1203C>A (p.Phe401Leu)
c.1647C>A (p.Phe549Leu)
9g.135770391C=CA1883873510KCNT1c.1713C= (p.Phe571=)
c.1554C= (p.Phe518=)
c.1461C= (p.Phe487=)
c.1470C= (p.Phe490=)
c.1614C= (p.Phe538=)
c.*1323C= (n.*1323C=)
c.1596C= (p.Phe532=)
c.1656C= (p.Phe552=)
n.1532C=
c.1578C= (p.Phe526=)
c.1848C= (p.Phe616=)
c.1857C= (p.Phe619=)
c.1203C= (p.Phe401=)
c.1647C= (p.Phe549=)
9g.135770391C>GCA375506652KCNT1c.1713C>G (p.Phe571Leu)
c.1554C>G (p.Phe518Leu)
c.1461C>G (p.Phe487Leu)
c.1470C>G (p.Phe490Leu)
c.1614C>G (p.Phe538Leu)
c.*1323C>G (n.*1323C>G)
c.1596C>G (p.Phe532Leu)
c.1656C>G (p.Phe552Leu)
n.1532C>G
c.1578C>G (p.Phe526Leu)
c.1848C>G (p.Phe616Leu)
c.1857C>G (p.Phe619Leu)
c.1203C>G (p.Phe401Leu)
c.1647C>G (p.Phe549Leu)
9g.135770391C>TCA5327037KCNT1c.1713C>T (p.Phe571=)
c.1554C>T (p.Phe518=)
c.1461C>T (p.Phe487=)
c.1470C>T (p.Phe490=)
c.1614C>T (p.Phe538=)
c.*1323C>T (n.*1323C>T)
c.1596C>T (p.Phe532=)
c.1656C>T (p.Phe552=)
n.1532C>T
c.1578C>T (p.Phe526=)
c.1848C>T (p.Phe616=)
c.1857C>T (p.Phe619=)
c.1203C>T (p.Phe401=)
c.1647C>T (p.Phe549=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770392T>ACA375506658KCNT1c.1714T>A (p.Phe572Ile)
c.1555T>A (p.Phe519Ile)
c.1462T>A (p.Phe488Ile)
c.1471T>A (p.Phe491Ile)
c.1615T>A (p.Phe539Ile)
c.*1324T>A (n.*1324T>A)
c.1597T>A (p.Phe533Ile)
c.1657T>A (p.Phe553Ile)
n.1533T>A
c.1579T>A (p.Phe527Ile)
c.1849T>A (p.Phe617Ile)
c.1858T>A (p.Phe620Ile)
c.1204T>A (p.Phe402Ile)
c.1648T>A (p.Phe550Ile)
9g.135770392T>CCA5327038KCNT1c.1714T>C (p.Phe572Leu)
c.1555T>C (p.Phe519Leu)
c.1462T>C (p.Phe488Leu)
c.1471T>C (p.Phe491Leu)
c.1615T>C (p.Phe539Leu)
c.*1324T>C (n.*1324T>C)
c.1597T>C (p.Phe533Leu)
c.1657T>C (p.Phe553Leu)
n.1533T>C
c.1579T>C (p.Phe527Leu)
c.1849T>C (p.Phe617Leu)
c.1858T>C (p.Phe620Leu)
c.1204T>C (p.Phe402Leu)
c.1648T>C (p.Phe550Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770392T>GCA375506656KCNT1c.1714T>G (p.Phe572Val)
c.1555T>G (p.Phe519Val)
c.1462T>G (p.Phe488Val)
c.1471T>G (p.Phe491Val)
c.1615T>G (p.Phe539Val)
c.*1324T>G (n.*1324T>G)
c.1597T>G (p.Phe533Val)
c.1657T>G (p.Phe553Val)
n.1533T>G
c.1579T>G (p.Phe527Val)
c.1849T>G (p.Phe617Val)
c.1858T>G (p.Phe620Val)
c.1204T>G (p.Phe402Val)
c.1648T>G (p.Phe550Val)
9g.135770392T=CA1883873514KCNT1c.1714T= (p.Phe572=)
c.1555T= (p.Phe519=)
c.1462T= (p.Phe488=)
c.1471T= (p.Phe491=)
c.1615T= (p.Phe539=)
c.*1324T= (n.*1324T=)
c.1597T= (p.Phe533=)
c.1657T= (p.Phe553=)
n.1533T=
c.1579T= (p.Phe527=)
c.1849T= (p.Phe617=)
c.1858T= (p.Phe620=)
c.1204T= (p.Phe402=)
c.1648T= (p.Phe550=)
9g.135770393T>ACA375506661KCNT1c.1715T>A (p.Phe572Tyr)
c.1556T>A (p.Phe519Tyr)
c.1463T>A (p.Phe488Tyr)
c.1472T>A (p.Phe491Tyr)
c.1616T>A (p.Phe539Tyr)
c.*1325T>A (n.*1325T>A)
c.1598T>A (p.Phe533Tyr)
c.1658T>A (p.Phe553Tyr)
n.1534T>A
c.1580T>A (p.Phe527Tyr)
c.1850T>A (p.Phe617Tyr)
c.1859T>A (p.Phe620Tyr)
c.1205T>A (p.Phe402Tyr)
c.1649T>A (p.Phe550Tyr)
9g.135770393T>CCA375506663KCNT1c.1715T>C (p.Phe572Ser)
c.1556T>C (p.Phe519Ser)
c.1463T>C (p.Phe488Ser)
c.1472T>C (p.Phe491Ser)
c.1616T>C (p.Phe539Ser)
c.*1325T>C (n.*1325T>C)
c.1598T>C (p.Phe533Ser)
c.1658T>C (p.Phe553Ser)
n.1534T>C
c.1580T>C (p.Phe527Ser)
c.1850T>C (p.Phe617Ser)
c.1859T>C (p.Phe620Ser)
c.1205T>C (p.Phe402Ser)
c.1649T>C (p.Phe550Ser)
9g.135770393T>GCA375506664KCNT1c.1715T>G (p.Phe572Cys)
c.1556T>G (p.Phe519Cys)
c.1463T>G (p.Phe488Cys)
c.1472T>G (p.Phe491Cys)
c.1616T>G (p.Phe539Cys)
c.*1325T>G (n.*1325T>G)
c.1598T>G (p.Phe533Cys)
c.1658T>G (p.Phe553Cys)
n.1534T>G
c.1580T>G (p.Phe527Cys)
c.1850T>G (p.Phe617Cys)
c.1859T>G (p.Phe620Cys)
c.1205T>G (p.Phe402Cys)
c.1649T>G (p.Phe550Cys)
9g.135770394C>ACA375506666KCNT1c.1716C>A (p.Phe572Leu)
c.1557C>A (p.Phe519Leu)
c.1464C>A (p.Phe488Leu)
c.1473C>A (p.Phe491Leu)
c.1617C>A (p.Phe539Leu)
c.*1326C>A (n.*1326C>A)
c.1599C>A (p.Phe533Leu)
c.1659C>A (p.Phe553Leu)
n.1535C>A
c.1581C>A (p.Phe527Leu)
c.1851C>A (p.Phe617Leu)
c.1860C>A (p.Phe620Leu)
c.1206C>A (p.Phe402Leu)
c.1650C>A (p.Phe550Leu)
9g.135770394C>GCA375506668KCNT1c.1716C>G (p.Phe572Leu)
c.1557C>G (p.Phe519Leu)
c.1464C>G (p.Phe488Leu)
c.1473C>G (p.Phe491Leu)
c.1617C>G (p.Phe539Leu)
c.*1326C>G (n.*1326C>G)
c.1599C>G (p.Phe533Leu)
c.1659C>G (p.Phe553Leu)
n.1535C>G
c.1581C>G (p.Phe527Leu)
c.1851C>G (p.Phe617Leu)
c.1860C>G (p.Phe620Leu)
c.1206C>G (p.Phe402Leu)
c.1650C>G (p.Phe550Leu)
9g.135770394C>TCA467698537KCNT1c.1716C>T (p.Phe572=)
c.1557C>T (p.Phe519=)
c.1464C>T (p.Phe488=)
c.1473C>T (p.Phe491=)
c.1617C>T (p.Phe539=)
c.*1326C>T (n.*1326C>T)
c.1599C>T (p.Phe533=)
c.1659C>T (p.Phe553=)
n.1535C>T
c.1581C>T (p.Phe527=)
c.1851C>T (p.Phe617=)
c.1860C>T (p.Phe620=)
c.1206C>T (p.Phe402=)
c.1650C>T (p.Phe550=)
 gnomAD v4
9g.135770395C>ACA375506669KCNT1c.1717C>A (p.Arg573Ser)
c.1558C>A (p.Arg520Ser)
c.1465C>A (p.Arg489Ser)
c.1474C>A (p.Arg492Ser)
c.1618C>A (p.Arg540Ser)
c.*1327C>A (n.*1327C>A)
c.1600C>A (p.Arg534Ser)
c.1660C>A (p.Arg554Ser)
n.1536C>A
c.1582C>A (p.Arg528Ser)
c.1852C>A (p.Arg618Ser)
c.1861C>A (p.Arg621Ser)
c.1207C>A (p.Arg403Ser)
c.1651C>A (p.Arg551Ser)
 gnomAD v4
9g.135770395C=CA1883873519KCNT1c.1717C= (p.Arg573=)
c.1558C= (p.Arg520=)
c.1465C= (p.Arg489=)
c.1474C= (p.Arg492=)
c.1618C= (p.Arg540=)
c.*1327C= (n.*1327C=)
c.1600C= (p.Arg534=)
c.1660C= (p.Arg554=)
n.1536C=
c.1582C= (p.Arg528=)
c.1852C= (p.Arg618=)
c.1861C= (p.Arg621=)
c.1207C= (p.Arg403=)
c.1651C= (p.Arg551=)
9g.135770395C>GCA375506671KCNT1c.1717C>G (p.Arg573Gly)
c.1558C>G (p.Arg520Gly)
c.1465C>G (p.Arg489Gly)
c.1474C>G (p.Arg492Gly)
c.1618C>G (p.Arg540Gly)
c.*1327C>G (n.*1327C>G)
c.1600C>G (p.Arg534Gly)
c.1660C>G (p.Arg554Gly)
n.1536C>G
c.1582C>G (p.Arg528Gly)
c.1852C>G (p.Arg618Gly)
c.1861C>G (p.Arg621Gly)
c.1207C>G (p.Arg403Gly)
c.1651C>G (p.Arg551Gly)
 gnomAD v4
9g.135770395C>TCA5327039KCNT1c.1717C>T (p.Arg573Cys)
c.1558C>T (p.Arg520Cys)
c.1465C>T (p.Arg489Cys)
c.1474C>T (p.Arg492Cys)
c.1618C>T (p.Arg540Cys)
c.*1327C>T (n.*1327C>T)
c.1600C>T (p.Arg534Cys)
c.1660C>T (p.Arg554Cys)
n.1536C>T
c.1582C>T (p.Arg528Cys)
c.1852C>T (p.Arg618Cys)
c.1861C>T (p.Arg621Cys)
c.1207C>T (p.Arg403Cys)
c.1651C>T (p.Arg551Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770396G>ACA5327040KCNT1c.1718G>A (p.Arg573His)
c.1559G>A (p.Arg520His)
c.1466G>A (p.Arg489His)
c.1475G>A (p.Arg492His)
c.1619G>A (p.Arg540His)
c.*1328G>A (n.*1328G>A)
c.1601G>A (p.Arg534His)
c.1661G>A (p.Arg554His)
n.1537G>A
c.1583G>A (p.Arg528His)
c.1853G>A (p.Arg618His)
c.1862G>A (p.Arg621His)
c.1208G>A (p.Arg403His)
c.1652G>A (p.Arg551His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770396G>CCA375506675KCNT1c.1718G>C (p.Arg573Pro)
c.1559G>C (p.Arg520Pro)
c.1466G>C (p.Arg489Pro)
c.1475G>C (p.Arg492Pro)
c.1619G>C (p.Arg540Pro)
c.*1328G>C (n.*1328G>C)
c.1601G>C (p.Arg534Pro)
c.1661G>C (p.Arg554Pro)
n.1537G>C
c.1583G>C (p.Arg528Pro)
c.1853G>C (p.Arg618Pro)
c.1862G>C (p.Arg621Pro)
c.1208G>C (p.Arg403Pro)
c.1652G>C (p.Arg551Pro)
9g.135770396G=CA1883873523KCNT1c.1718G= (p.Arg573=)
c.1559G= (p.Arg520=)
c.1466G= (p.Arg489=)
c.1475G= (p.Arg492=)
c.1619G= (p.Arg540=)
c.*1328G= (n.*1328G=)
c.1601G= (p.Arg534=)
c.1661G= (p.Arg554=)
n.1537G=
c.1583G= (p.Arg528=)
c.1853G= (p.Arg618=)
c.1862G= (p.Arg621=)
c.1208G= (p.Arg403=)
c.1652G= (p.Arg551=)
9g.135770396G>TCA375506676KCNT1c.1718G>T (p.Arg573Leu)
c.1559G>T (p.Arg520Leu)
c.1466G>T (p.Arg489Leu)
c.1475G>T (p.Arg492Leu)
c.1619G>T (p.Arg540Leu)
c.*1328G>T (n.*1328G>T)
c.1601G>T (p.Arg534Leu)
c.1661G>T (p.Arg554Leu)
n.1537G>T
c.1583G>T (p.Arg528Leu)
c.1853G>T (p.Arg618Leu)
c.1862G>T (p.Arg621Leu)
c.1208G>T (p.Arg403Leu)
c.1652G>T (p.Arg551Leu)

Number of alleles fetched