Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135769926_135769949dupCA2786247833KCNT1c.1511-21_1513dup
c.1352-21_1354dup
c.1259-21_1261dup
c.1268-21_1270dup
c.1412-21_1414dup
c.*1121-21_*1123dup
c.1394-21_1396dup
c.1454-21_1456dup
n.1330-21_1332dup
c.1376-21_1378dup
c.1646-21_1648dup
c.1655-21_1657dup
c.1001-21_1003dup
c.1445-21_1447dup
9g.135769947A=CA1883872372KCNT1c.1511A= (p.Asp504=)
c.1352A= (p.Asp451=)
c.1259A= (p.Asp420=)
c.1268A= (p.Asp423=)
c.1412A= (p.Asp471=)
c.*1121A= (n.*1121A=)
c.1394A= (p.Asp465=)
c.1454A= (p.Asp485=)
n.1330A=
c.1376A= (p.Asp459=)
c.1646A= (p.Asp549=)
c.1655A= (p.Asp552=)
c.1001A= (p.Asp334=)
c.1445A= (p.Asp482=)
9g.135769947A>CCA375505820KCNT1c.1511A>C (p.Asp504Ala)
c.1352A>C (p.Asp451Ala)
c.1259A>C (p.Asp420Ala)
c.1268A>C (p.Asp423Ala)
c.1412A>C (p.Asp471Ala)
c.*1121A>C (n.*1121A>C)
c.1394A>C (p.Asp465Ala)
c.1454A>C (p.Asp485Ala)
n.1330A>C
c.1376A>C (p.Asp459Ala)
c.1646A>C (p.Asp549Ala)
c.1655A>C (p.Asp552Ala)
c.1001A>C (p.Asp334Ala)
c.1445A>C (p.Asp482Ala)
9g.135769947A>GCA375505822KCNT1c.1511A>G (p.Asp504Gly)
c.1352A>G (p.Asp451Gly)
c.1259A>G (p.Asp420Gly)
c.1268A>G (p.Asp423Gly)
c.1412A>G (p.Asp471Gly)
c.*1121A>G (n.*1121A>G)
c.1394A>G (p.Asp465Gly)
c.1454A>G (p.Asp485Gly)
n.1330A>G
c.1376A>G (p.Asp459Gly)
c.1646A>G (p.Asp549Gly)
c.1655A>G (p.Asp552Gly)
c.1001A>G (p.Asp334Gly)
c.1445A>G (p.Asp482Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.135769947A>TCA375505821KCNT1c.1511A>T (p.Asp504Val)
c.1352A>T (p.Asp451Val)
c.1259A>T (p.Asp420Val)
c.1268A>T (p.Asp423Val)
c.1412A>T (p.Asp471Val)
c.*1121A>T (n.*1121A>T)
c.1394A>T (p.Asp465Val)
c.1454A>T (p.Asp485Val)
n.1330A>T
c.1376A>T (p.Asp459Val)
c.1646A>T (p.Asp549Val)
c.1655A>T (p.Asp552Val)
c.1001A>T (p.Asp334Val)
c.1445A>T (p.Asp482Val)
9g.135769948C>ACA375505823KCNT1c.1512C>A (p.Asp504Glu)
c.1353C>A (p.Asp451Glu)
c.1260C>A (p.Asp420Glu)
c.1269C>A (p.Asp423Glu)
c.1413C>A (p.Asp471Glu)
c.*1122C>A (n.*1122C>A)
c.1395C>A (p.Asp465Glu)
c.1455C>A (p.Asp485Glu)
n.1331C>A
c.1377C>A (p.Asp459Glu)
c.1647C>A (p.Asp549Glu)
c.1656C>A (p.Asp552Glu)
c.1002C>A (p.Asp334Glu)
c.1446C>A (p.Asp482Glu)
 gnomAD v4
9g.135769948C=CA1883872378KCNT1c.1512C= (p.Asp504=)
c.1353C= (p.Asp451=)
c.1260C= (p.Asp420=)
c.1269C= (p.Asp423=)
c.1413C= (p.Asp471=)
c.*1122C= (n.*1122C=)
c.1395C= (p.Asp465=)
c.1455C= (p.Asp485=)
n.1331C=
c.1377C= (p.Asp459=)
c.1647C= (p.Asp549=)
c.1656C= (p.Asp552=)
c.1002C= (p.Asp334=)
c.1446C= (p.Asp482=)
9g.135769948C>GCA375505824KCNT1c.1512C>G (p.Asp504Glu)
c.1353C>G (p.Asp451Glu)
c.1260C>G (p.Asp420Glu)
c.1269C>G (p.Asp423Glu)
c.1413C>G (p.Asp471Glu)
c.*1122C>G (n.*1122C>G)
c.1395C>G (p.Asp465Glu)
c.1455C>G (p.Asp485Glu)
n.1331C>G
c.1377C>G (p.Asp459Glu)
c.1647C>G (p.Asp549Glu)
c.1656C>G (p.Asp552Glu)
c.1002C>G (p.Asp334Glu)
c.1446C>G (p.Asp482Glu)
9g.135769948C>TCA467698376KCNT1c.1512C>T (p.Asp504=)
c.1353C>T (p.Asp451=)
c.1260C>T (p.Asp420=)
c.1269C>T (p.Asp423=)
c.1413C>T (p.Asp471=)
c.*1122C>T (n.*1122C>T)
c.1395C>T (p.Asp465=)
c.1455C>T (p.Asp485=)
n.1331C>T
c.1377C>T (p.Asp459=)
c.1647C>T (p.Asp549=)
c.1656C>T (p.Asp552=)
c.1002C>T (p.Asp334=)
c.1446C>T (p.Asp482=)
 ClinVar dbSNP
9g.135769949C>ACA375505825KCNT1c.1513C>A (p.His505Asn)
c.1354C>A (p.His452Asn)
c.1261C>A (p.His421Asn)
c.1270C>A (p.His424Asn)
c.1414C>A (p.His472Asn)
c.*1123C>A (n.*1123C>A)
c.1396C>A (p.His466Asn)
c.1456C>A (p.His486Asn)
n.1332C>A
c.1378C>A (p.His460Asn)
c.1648C>A (p.His550Asn)
c.1657C>A (p.His553Asn)
c.1003C>A (p.His335Asn)
c.1447C>A (p.His483Asn)
 dbSNP gnomAD v4
9g.135769949C=CA1883872382KCNT1c.1513C= (p.His505=)
c.1354C= (p.His452=)
c.1261C= (p.His421=)
c.1270C= (p.His424=)
c.1414C= (p.His472=)
c.*1123C= (n.*1123C=)
c.1396C= (p.His466=)
c.1456C= (p.His486=)
n.1332C=
c.1378C= (p.His460=)
c.1648C= (p.His550=)
c.1657C= (p.His553=)
c.1003C= (p.His335=)
c.1447C= (p.His483=)
9g.135769949C>GCA375505827KCNT1c.1513C>G (p.His505Asp)
c.1354C>G (p.His452Asp)
c.1261C>G (p.His421Asp)
c.1270C>G (p.His424Asp)
c.1414C>G (p.His472Asp)
c.*1123C>G (n.*1123C>G)
c.1396C>G (p.His466Asp)
c.1456C>G (p.His486Asp)
n.1332C>G
c.1378C>G (p.His460Asp)
c.1648C>G (p.His550Asp)
c.1657C>G (p.His553Asp)
c.1003C>G (p.His335Asp)
c.1447C>G (p.His483Asp)
9g.135769949C>TCA375505826KCNT1c.1513C>T (p.His505Tyr)
c.1354C>T (p.His452Tyr)
c.1261C>T (p.His421Tyr)
c.1270C>T (p.His424Tyr)
c.1414C>T (p.His472Tyr)
c.*1123C>T (n.*1123C>T)
c.1396C>T (p.His466Tyr)
c.1456C>T (p.His486Tyr)
n.1332C>T
c.1378C>T (p.His460Tyr)
c.1648C>T (p.His550Tyr)
c.1657C>T (p.His553Tyr)
c.1003C>T (p.His335Tyr)
c.1447C>T (p.His483Tyr)
 gnomAD v4
9g.135769950A>CCA375505828KCNT1c.1514A>C (p.His505Pro)
c.1355A>C (p.His452Pro)
c.1262A>C (p.His421Pro)
c.1271A>C (p.His424Pro)
c.1415A>C (p.His472Pro)
c.*1124A>C (n.*1124A>C)
c.1397A>C (p.His466Pro)
c.1457A>C (p.His486Pro)
n.1333A>C
c.1379A>C (p.His460Pro)
c.1649A>C (p.His550Pro)
c.1658A>C (p.His553Pro)
c.1004A>C (p.His335Pro)
c.1448A>C (p.His483Pro)
9g.135769950A>GCA375505829KCNT1c.1514A>G (p.His505Arg)
c.1355A>G (p.His452Arg)
c.1262A>G (p.His421Arg)
c.1271A>G (p.His424Arg)
c.1415A>G (p.His472Arg)
c.*1124A>G (n.*1124A>G)
c.1397A>G (p.His466Arg)
c.1457A>G (p.His486Arg)
n.1333A>G
c.1379A>G (p.His460Arg)
c.1649A>G (p.His550Arg)
c.1658A>G (p.His553Arg)
c.1004A>G (p.His335Arg)
c.1448A>G (p.His483Arg)
 gnomAD v4
9g.135769950A>TCA375505830KCNT1c.1514A>T (p.His505Leu)
c.1355A>T (p.His452Leu)
c.1262A>T (p.His421Leu)
c.1271A>T (p.His424Leu)
c.1415A>T (p.His472Leu)
c.*1124A>T (n.*1124A>T)
c.1397A>T (p.His466Leu)
c.1457A>T (p.His486Leu)
n.1333A>T
c.1379A>T (p.His460Leu)
c.1649A>T (p.His550Leu)
c.1658A>T (p.His553Leu)
c.1004A>T (p.His335Leu)
c.1448A>T (p.His483Leu)
9g.135769951C>ACA375505831KCNT1c.1515C>A (p.His505Gln)
c.1356C>A (p.His452Gln)
c.1263C>A (p.His421Gln)
c.1272C>A (p.His424Gln)
c.1416C>A (p.His472Gln)
c.*1125C>A (n.*1125C>A)
c.1398C>A (p.His466Gln)
c.1458C>A (p.His486Gln)
n.1334C>A
c.1380C>A (p.His460Gln)
c.1650C>A (p.His550Gln)
c.1659C>A (p.His553Gln)
c.1005C>A (p.His335Gln)
c.1449C>A (p.His483Gln)
9g.135769951C=CA1883872386KCNT1c.1515C= (p.His505=)
c.1356C= (p.His452=)
c.1263C= (p.His421=)
c.1272C= (p.His424=)
c.1416C= (p.His472=)
c.*1125C= (n.*1125C=)
c.1398C= (p.His466=)
c.1458C= (p.His486=)
n.1334C=
c.1380C= (p.His460=)
c.1650C= (p.His550=)
c.1659C= (p.His553=)
c.1005C= (p.His335=)
c.1449C= (p.His483=)
9g.135769951C>GCA375505832KCNT1c.1515C>G (p.His505Gln)
c.1356C>G (p.His452Gln)
c.1263C>G (p.His421Gln)
c.1272C>G (p.His424Gln)
c.1416C>G (p.His472Gln)
c.*1125C>G (n.*1125C>G)
c.1398C>G (p.His466Gln)
c.1458C>G (p.His486Gln)
n.1334C>G
c.1380C>G (p.His460Gln)
c.1650C>G (p.His550Gln)
c.1659C>G (p.His553Gln)
c.1005C>G (p.His335Gln)
c.1449C>G (p.His483Gln)
9g.135769951C>TCA5326957KCNT1c.1515C>T (p.His505=)
c.1356C>T (p.His452=)
c.1263C>T (p.His421=)
c.1272C>T (p.His424=)
c.1416C>T (p.His472=)
c.*1125C>T (n.*1125C>T)
c.1398C>T (p.His466=)
c.1458C>T (p.His486=)
n.1334C>T
c.1380C>T (p.His460=)
c.1650C>T (p.His550=)
c.1659C>T (p.His553=)
c.1005C>T (p.His335=)
c.1449C>T (p.His483=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135769952G>ACA201472666KCNT1c.1516G>A (p.Val506Met)
c.1357G>A (p.Val453Met)
c.1264G>A (p.Val422Met)
c.1273G>A (p.Val425Met)
c.1417G>A (p.Val473Met)
c.*1126G>A (n.*1126G>A)
c.1399G>A (p.Val467Met)
c.1459G>A (p.Val487Met)
n.1335G>A
c.1381G>A (p.Val461Met)
c.1651G>A (p.Val551Met)
c.1660G>A (p.Val554Met)
c.1006G>A (p.Val336Met)
c.1450G>A (p.Val484Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135769952G>CCA375505833KCNT1c.1516G>C (p.Val506Leu)
c.1357G>C (p.Val453Leu)
c.1264G>C (p.Val422Leu)
c.1273G>C (p.Val425Leu)
c.1417G>C (p.Val473Leu)
c.*1126G>C (n.*1126G>C)
c.1399G>C (p.Val467Leu)
c.1459G>C (p.Val487Leu)
n.1335G>C
c.1381G>C (p.Val461Leu)
c.1651G>C (p.Val551Leu)
c.1660G>C (p.Val554Leu)
c.1006G>C (p.Val336Leu)
c.1450G>C (p.Val484Leu)
9g.135769952G=CA1883872393KCNT1c.1516G= (p.Val506=)
c.1357G= (p.Val453=)
c.1264G= (p.Val422=)
c.1273G= (p.Val425=)
c.1417G= (p.Val473=)
c.*1126G= (n.*1126G=)
c.1399G= (p.Val467=)
c.1459G= (p.Val487=)
n.1335G=
c.1381G= (p.Val461=)
c.1651G= (p.Val551=)
c.1660G= (p.Val554=)
c.1006G= (p.Val336=)
c.1450G= (p.Val484=)
9g.135769952G>TCA375505834KCNT1c.1516G>T (p.Val506Leu)
c.1357G>T (p.Val453Leu)
c.1264G>T (p.Val422Leu)
c.1273G>T (p.Val425Leu)
c.1417G>T (p.Val473Leu)
c.*1126G>T (n.*1126G>T)
c.1399G>T (p.Val467Leu)
c.1459G>T (p.Val487Leu)
n.1335G>T
c.1381G>T (p.Val461Leu)
c.1651G>T (p.Val551Leu)
c.1660G>T (p.Val554Leu)
c.1006G>T (p.Val336Leu)
c.1450G>T (p.Val484Leu)
9g.135769953T>ACA375505837KCNT1c.1517T>A (p.Val506Glu)
c.1358T>A (p.Val453Glu)
c.1265T>A (p.Val422Glu)
c.1274T>A (p.Val425Glu)
c.1418T>A (p.Val473Glu)
c.*1127T>A (n.*1127T>A)
c.1400T>A (p.Val467Glu)
c.1460T>A (p.Val487Glu)
n.1336T>A
c.1382T>A (p.Val461Glu)
c.1652T>A (p.Val551Glu)
c.1661T>A (p.Val554Glu)
c.1007T>A (p.Val336Glu)
c.1451T>A (p.Val484Glu)
 gnomAD v4
9g.135769953T>CCA375505836KCNT1c.1517T>C (p.Val506Ala)
c.1358T>C (p.Val453Ala)
c.1265T>C (p.Val422Ala)
c.1274T>C (p.Val425Ala)
c.1418T>C (p.Val473Ala)
c.*1127T>C (n.*1127T>C)
c.1400T>C (p.Val467Ala)
c.1460T>C (p.Val487Ala)
n.1336T>C
c.1382T>C (p.Val461Ala)
c.1652T>C (p.Val551Ala)
c.1661T>C (p.Val554Ala)
c.1007T>C (p.Val336Ala)
c.1451T>C (p.Val484Ala)
 gnomAD v4
9g.135769953T>GCA375505835KCNT1c.1517T>G (p.Val506Gly)
c.1358T>G (p.Val453Gly)
c.1265T>G (p.Val422Gly)
c.1274T>G (p.Val425Gly)
c.1418T>G (p.Val473Gly)
c.*1127T>G (n.*1127T>G)
c.1400T>G (p.Val467Gly)
c.1460T>G (p.Val487Gly)
n.1336T>G
c.1382T>G (p.Val461Gly)
c.1652T>G (p.Val551Gly)
c.1661T>G (p.Val554Gly)
c.1007T>G (p.Val336Gly)
c.1451T>G (p.Val484Gly)
9g.135769954G>ACA5326958KCNT1c.1518G>A (p.Val506=)
c.1359G>A (p.Val453=)
c.1266G>A (p.Val422=)
c.1275G>A (p.Val425=)
c.1419G>A (p.Val473=)
c.*1128G>A (n.*1128G>A)
c.1401G>A (p.Val467=)
c.1461G>A (p.Val487=)
n.1337G>A
c.1383G>A (p.Val461=)
c.1653G>A (p.Val551=)
c.1662G>A (p.Val554=)
c.1008G>A (p.Val336=)
c.1452G>A (p.Val484=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135769954G>CCA467698377KCNT1c.1518G>C (p.Val506=)
c.1359G>C (p.Val453=)
c.1266G>C (p.Val422=)
c.1275G>C (p.Val425=)
c.1419G>C (p.Val473=)
c.*1128G>C (n.*1128G>C)
c.1401G>C (p.Val467=)
c.1461G>C (p.Val487=)
n.1337G>C
c.1383G>C (p.Val461=)
c.1653G>C (p.Val551=)
c.1662G>C (p.Val554=)
c.1008G>C (p.Val336=)
c.1452G>C (p.Val484=)
9g.135769954G=CA1883872394KCNT1c.1518G= (p.Val506=)
c.1359G= (p.Val453=)
c.1266G= (p.Val422=)
c.1275G= (p.Val425=)
c.1419G= (p.Val473=)
c.*1128G= (n.*1128G=)
c.1401G= (p.Val467=)
c.1461G= (p.Val487=)
n.1337G=
c.1383G= (p.Val461=)
c.1653G= (p.Val551=)
c.1662G= (p.Val554=)
c.1008G= (p.Val336=)
c.1452G= (p.Val484=)
9g.135769954G>TCA467698378KCNT1c.1518G>T (p.Val506=)
c.1359G>T (p.Val453=)
c.1266G>T (p.Val422=)
c.1275G>T (p.Val425=)
c.1419G>T (p.Val473=)
c.*1128G>T (n.*1128G>T)
c.1401G>T (p.Val467=)
c.1461G>T (p.Val487=)
n.1337G>T
c.1383G>T (p.Val461=)
c.1653G>T (p.Val551=)
c.1662G>T (p.Val554=)
c.1008G>T (p.Val336=)
c.1452G>T (p.Val484=)
 gnomAD v4
9g.135769955delCA2579510911KCNT1c.1519del (p.Val507CysfsTer13)
c.1360del (p.Val454CysfsTer13)
c.1267del (p.Val423CysfsTer13)
c.1276del (p.Val426CysfsTer13)
c.1420del (p.Val474CysfsTer13)
c.*1129del (n.*1129del)
c.1402del (p.Val468CysfsTer13)
c.1462del (p.Val488CysfsTer13)
n.1338del
c.1384del (p.Val462CysfsTer13)
c.1654del (p.Val552CysfsTer13)
c.1663del (p.Val555CysfsTer13)
c.1009del (p.Val337CysfsTer13)
c.1453del (p.Val485CysfsTer13)
9g.135769955G>ACA375505838KCNT1c.1519G>A (p.Val507Met)
c.1360G>A (p.Val454Met)
c.1267G>A (p.Val423Met)
c.1276G>A (p.Val426Met)
c.1420G>A (p.Val474Met)
c.*1129G>A (n.*1129G>A)
c.1402G>A (p.Val468Met)
c.1462G>A (p.Val488Met)
n.1338G>A
c.1384G>A (p.Val462Met)
c.1654G>A (p.Val552Met)
c.1663G>A (p.Val555Met)
c.1009G>A (p.Val337Met)
c.1453G>A (p.Val485Met)
9g.135769955G>CCA375505839KCNT1c.1519G>C (p.Val507Leu)
c.1360G>C (p.Val454Leu)
c.1267G>C (p.Val423Leu)
c.1276G>C (p.Val426Leu)
c.1420G>C (p.Val474Leu)
c.*1129G>C (n.*1129G>C)
c.1402G>C (p.Val468Leu)
c.1462G>C (p.Val488Leu)
n.1338G>C
c.1384G>C (p.Val462Leu)
c.1654G>C (p.Val552Leu)
c.1663G>C (p.Val555Leu)
c.1009G>C (p.Val337Leu)
c.1453G>C (p.Val485Leu)
 gnomAD v4
9g.135769955G>TCA375505840KCNT1c.1519G>T (p.Val507Leu)
c.1360G>T (p.Val454Leu)
c.1267G>T (p.Val423Leu)
c.1276G>T (p.Val426Leu)
c.1420G>T (p.Val474Leu)
c.*1129G>T (n.*1129G>T)
c.1402G>T (p.Val468Leu)
c.1462G>T (p.Val488Leu)
n.1338G>T
c.1384G>T (p.Val462Leu)
c.1654G>T (p.Val552Leu)
c.1663G>T (p.Val555Leu)
c.1009G>T (p.Val337Leu)
c.1453G>T (p.Val485Leu)
 gnomAD v4 COSMIC COSMIC
9g.135769956T>ACA375505841KCNT1c.1520T>A (p.Val507Glu)
c.1361T>A (p.Val454Glu)
c.1268T>A (p.Val423Glu)
c.1277T>A (p.Val426Glu)
c.1421T>A (p.Val474Glu)
c.*1130T>A (n.*1130T>A)
c.1403T>A (p.Val468Glu)
c.1463T>A (p.Val488Glu)
n.1339T>A
c.1385T>A (p.Val462Glu)
c.1655T>A (p.Val552Glu)
c.1664T>A (p.Val555Glu)
c.1010T>A (p.Val337Glu)
c.1454T>A (p.Val485Glu)
9g.135769956T>CCA375505842KCNT1c.1520T>C (p.Val507Ala)
c.1361T>C (p.Val454Ala)
c.1268T>C (p.Val423Ala)
c.1277T>C (p.Val426Ala)
c.1421T>C (p.Val474Ala)
c.*1130T>C (n.*1130T>C)
c.1403T>C (p.Val468Ala)
c.1463T>C (p.Val488Ala)
n.1339T>C
c.1385T>C (p.Val462Ala)
c.1655T>C (p.Val552Ala)
c.1664T>C (p.Val555Ala)
c.1010T>C (p.Val337Ala)
c.1454T>C (p.Val485Ala)
9g.135769956T>GCA375505843KCNT1c.1520T>G (p.Val507Gly)
c.1361T>G (p.Val454Gly)
c.1268T>G (p.Val423Gly)
c.1277T>G (p.Val426Gly)
c.1421T>G (p.Val474Gly)
c.*1130T>G (n.*1130T>G)
c.1403T>G (p.Val468Gly)
c.1463T>G (p.Val488Gly)
n.1339T>G
c.1385T>G (p.Val462Gly)
c.1655T>G (p.Val552Gly)
c.1664T>G (p.Val555Gly)
c.1010T>G (p.Val337Gly)
c.1454T>G (p.Val485Gly)
9g.135769957delCA2786247841KCNT1c.1521del (p.Cys508ValfsTer12)
c.1362del (p.Cys455ValfsTer12)
c.1269del (p.Cys424ValfsTer12)
c.1278del (p.Cys427ValfsTer12)
c.1422del (p.Cys475ValfsTer12)
c.*1131del (n.*1131del)
c.1404del (p.Cys469ValfsTer12)
c.1464del (p.Cys489ValfsTer12)
n.1340del
c.1386del (p.Cys463ValfsTer12)
c.1656del (p.Cys553ValfsTer12)
c.1665del (p.Cys556ValfsTer12)
c.1011del (p.Cys338ValfsTer12)
c.1455del (p.Cys486ValfsTer12)
9g.135769957G>ACA5326959KCNT1c.1521G>A (p.Val507=)
c.1362G>A (p.Val454=)
c.1269G>A (p.Val423=)
c.1278G>A (p.Val426=)
c.1422G>A (p.Val474=)
c.*1131G>A (n.*1131G>A)
c.1404G>A (p.Val468=)
c.1464G>A (p.Val488=)
n.1340G>A
c.1386G>A (p.Val462=)
c.1656G>A (p.Val552=)
c.1665G>A (p.Val555=)
c.1011G>A (p.Val337=)
c.1455G>A (p.Val485=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135769957G>CCA467698379KCNT1c.1521G>C (p.Val507=)
c.1362G>C (p.Val454=)
c.1269G>C (p.Val423=)
c.1278G>C (p.Val426=)
c.1422G>C (p.Val474=)
c.*1131G>C (n.*1131G>C)
c.1404G>C (p.Val468=)
c.1464G>C (p.Val488=)
n.1340G>C
c.1386G>C (p.Val462=)
c.1656G>C (p.Val552=)
c.1665G>C (p.Val555=)
c.1011G>C (p.Val337=)
c.1455G>C (p.Val485=)
9g.135769957G=CA1883872398KCNT1c.1521G= (p.Val507=)
c.1362G= (p.Val454=)
c.1269G= (p.Val423=)
c.1278G= (p.Val426=)
c.1422G= (p.Val474=)
c.*1131G= (n.*1131G=)
c.1404G= (p.Val468=)
c.1464G= (p.Val488=)
n.1340G=
c.1386G= (p.Val462=)
c.1656G= (p.Val552=)
c.1665G= (p.Val555=)
c.1011G= (p.Val337=)
c.1455G= (p.Val485=)
9g.135769957G>TCA467698380KCNT1c.1521G>T (p.Val507=)
c.1362G>T (p.Val454=)
c.1269G>T (p.Val423=)
c.1278G>T (p.Val426=)
c.1422G>T (p.Val474=)
c.*1131G>T (n.*1131G>T)
c.1404G>T (p.Val468=)
c.1464G>T (p.Val488=)
n.1340G>T
c.1386G>T (p.Val462=)
c.1656G>T (p.Val552=)
c.1665G>T (p.Val555=)
c.1011G>T (p.Val337=)
c.1455G>T (p.Val485=)
 gnomAD v4
9g.135769958T>ACA375505844KCNT1c.1522T>A (p.Cys508Ser)
c.1363T>A (p.Cys455Ser)
c.1270T>A (p.Cys424Ser)
c.1279T>A (p.Cys427Ser)
c.1423T>A (p.Cys475Ser)
c.*1132T>A (n.*1132T>A)
c.1405T>A (p.Cys469Ser)
c.1465T>A (p.Cys489Ser)
n.1341T>A
c.1387T>A (p.Cys463Ser)
c.1657T>A (p.Cys553Ser)
c.1666T>A (p.Cys556Ser)
c.1012T>A (p.Cys338Ser)
c.1456T>A (p.Cys486Ser)
9g.135769958T>CCA375505845KCNT1c.1522T>C (p.Cys508Arg)
c.1363T>C (p.Cys455Arg)
c.1270T>C (p.Cys424Arg)
c.1279T>C (p.Cys427Arg)
c.1423T>C (p.Cys475Arg)
c.*1132T>C (n.*1132T>C)
c.1405T>C (p.Cys469Arg)
c.1465T>C (p.Cys489Arg)
n.1341T>C
c.1387T>C (p.Cys463Arg)
c.1657T>C (p.Cys553Arg)
c.1666T>C (p.Cys556Arg)
c.1012T>C (p.Cys338Arg)
c.1456T>C (p.Cys486Arg)
 gnomAD v4
9g.135769958T>GCA375505846KCNT1c.1522T>G (p.Cys508Gly)
c.1363T>G (p.Cys455Gly)
c.1270T>G (p.Cys424Gly)
c.1279T>G (p.Cys427Gly)
c.1423T>G (p.Cys475Gly)
c.*1132T>G (n.*1132T>G)
c.1405T>G (p.Cys469Gly)
c.1465T>G (p.Cys489Gly)
n.1341T>G
c.1387T>G (p.Cys463Gly)
c.1657T>G (p.Cys553Gly)
c.1666T>G (p.Cys556Gly)
c.1012T>G (p.Cys338Gly)
c.1456T>G (p.Cys486Gly)
9g.135769959G>ACA375505848KCNT1c.1523G>A (p.Cys508Tyr)
c.1364G>A (p.Cys455Tyr)
c.1271G>A (p.Cys424Tyr)
c.1280G>A (p.Cys427Tyr)
c.1424G>A (p.Cys475Tyr)
c.*1133G>A (n.*1133G>A)
c.1406G>A (p.Cys469Tyr)
c.1466G>A (p.Cys489Tyr)
n.1342G>A
c.1388G>A (p.Cys463Tyr)
c.1658G>A (p.Cys553Tyr)
c.1667G>A (p.Cys556Tyr)
c.1013G>A (p.Cys338Tyr)
c.1457G>A (p.Cys486Tyr)
 gnomAD v4
9g.135769959G>CCA375505849KCNT1c.1523G>C (p.Cys508Ser)
c.1364G>C (p.Cys455Ser)
c.1271G>C (p.Cys424Ser)
c.1280G>C (p.Cys427Ser)
c.1424G>C (p.Cys475Ser)
c.*1133G>C (n.*1133G>C)
c.1406G>C (p.Cys469Ser)
c.1466G>C (p.Cys489Ser)
n.1342G>C
c.1388G>C (p.Cys463Ser)
c.1658G>C (p.Cys553Ser)
c.1667G>C (p.Cys556Ser)
c.1013G>C (p.Cys338Ser)
c.1457G>C (p.Cys486Ser)
9g.135769959G>TCA375505847KCNT1c.1523G>T (p.Cys508Phe)
c.1364G>T (p.Cys455Phe)
c.1271G>T (p.Cys424Phe)
c.1280G>T (p.Cys427Phe)
c.1424G>T (p.Cys475Phe)
c.*1133G>T (n.*1133G>T)
c.1406G>T (p.Cys469Phe)
c.1466G>T (p.Cys489Phe)
n.1342G>T
c.1388G>T (p.Cys463Phe)
c.1658G>T (p.Cys553Phe)
c.1667G>T (p.Cys556Phe)
c.1013G>T (p.Cys338Phe)
c.1457G>T (p.Cys486Phe)
 gnomAD v4
9g.135769960T>ACA375505850KCNT1c.1524T>A (p.Cys508Ter)
c.1365T>A (p.Cys455Ter)
c.1272T>A (p.Cys424Ter)
c.1281T>A (p.Cys427Ter)
c.1425T>A (p.Cys475Ter)
c.*1134T>A (n.*1134T>A)
c.1407T>A (p.Cys469Ter)
c.1467T>A (p.Cys489Ter)
n.1343T>A
c.1389T>A (p.Cys463Ter)
c.1659T>A (p.Cys553Ter)
c.1668T>A (p.Cys556Ter)
c.1014T>A (p.Cys338Ter)
c.1458T>A (p.Cys486Ter)
9g.135769960T>CCA467698381KCNT1c.1524T>C (p.Cys508=)
c.1365T>C (p.Cys455=)
c.1272T>C (p.Cys424=)
c.1281T>C (p.Cys427=)
c.1425T>C (p.Cys475=)
c.*1134T>C (n.*1134T>C)
c.1407T>C (p.Cys469=)
c.1467T>C (p.Cys489=)
n.1343T>C
c.1389T>C (p.Cys463=)
c.1659T>C (p.Cys553=)
c.1668T>C (p.Cys556=)
c.1014T>C (p.Cys338=)
c.1458T>C (p.Cys486=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135769960T>GCA375505851KCNT1c.1524T>G (p.Cys508Trp)
c.1365T>G (p.Cys455Trp)
c.1272T>G (p.Cys424Trp)
c.1281T>G (p.Cys427Trp)
c.1425T>G (p.Cys475Trp)
c.*1134T>G (n.*1134T>G)
c.1407T>G (p.Cys469Trp)
c.1467T>G (p.Cys489Trp)
n.1343T>G
c.1389T>G (p.Cys463Trp)
c.1659T>G (p.Cys553Trp)
c.1668T>G (p.Cys556Trp)
c.1014T>G (p.Cys338Trp)
c.1458T>G (p.Cys486Trp)
9g.135769960T=CA1883872404KCNT1c.1524T= (p.Cys508=)
c.1365T= (p.Cys455=)
c.1272T= (p.Cys424=)
c.1281T= (p.Cys427=)
c.1425T= (p.Cys475=)
c.*1134T= (n.*1134T=)
c.1407T= (p.Cys469=)
c.1467T= (p.Cys489=)
n.1343T=
c.1389T= (p.Cys463=)
c.1659T= (p.Cys553=)
c.1668T= (p.Cys556=)
c.1014T= (p.Cys338=)
c.1458T= (p.Cys486=)
9g.135769960_135769963delinsTGAGCA1883872403KCNT1c.1524_1527delinsTGAG (p.Cys508=)
c.1365_1368delinsTGAG (p.Cys455=)
c.1272_1275delinsTGAG (p.Cys424=)
c.1281_1284delinsTGAG (p.Cys427=)
c.1425_1428delinsTGAG (p.Cys475=)
c.*1134_*1137delinsTGAG (n.*1134_*1137delinsTGAG)
c.1407_1410delinsTGAG (p.Cys469=)
c.1467_1470delinsTGAG (p.Cys489=)
n.1343_1346delinsTGAG
c.1389_1392delinsTGAG (p.Cys463=)
c.1659_1662delinsTGAG (p.Cys553=)
c.1668_1671delinsTGAG (p.Cys556=)
c.1014_1017delinsTGAG (p.Cys338=)
c.1458_1461delinsTGAG (p.Cys486=)
9g.135769961G>ACA375505852KCNT1c.1525G>A (p.Glu509Lys)
c.1366G>A (p.Glu456Lys)
c.1273G>A (p.Glu425Lys)
c.1282G>A (p.Glu428Lys)
c.1426G>A (p.Glu476Lys)
c.*1135G>A (n.*1135G>A)
c.1408G>A (p.Glu470Lys)
c.1468G>A (p.Glu490Lys)
n.1344G>A
c.1390G>A (p.Glu464Lys)
c.1660G>A (p.Glu554Lys)
c.1669G>A (p.Glu557Lys)
c.1015G>A (p.Glu339Lys)
c.1459G>A (p.Glu487Lys)
9g.135769961G>CCA375505853KCNT1c.1525G>C (p.Glu509Gln)
c.1366G>C (p.Glu456Gln)
c.1273G>C (p.Glu425Gln)
c.1282G>C (p.Glu428Gln)
c.1426G>C (p.Glu476Gln)
c.*1135G>C (n.*1135G>C)
c.1408G>C (p.Glu470Gln)
c.1468G>C (p.Glu490Gln)
n.1344G>C
c.1390G>C (p.Glu464Gln)
c.1660G>C (p.Glu554Gln)
c.1669G>C (p.Glu557Gln)
c.1015G>C (p.Glu339Gln)
c.1459G>C (p.Glu487Gln)
9g.135769961G>TCA375505854KCNT1c.1525G>T (p.Glu509Ter)
c.1366G>T (p.Glu456Ter)
c.1273G>T (p.Glu425Ter)
c.1282G>T (p.Glu428Ter)
c.1426G>T (p.Glu476Ter)
c.*1135G>T (n.*1135G>T)
c.1408G>T (p.Glu470Ter)
c.1468G>T (p.Glu490Ter)
n.1344G>T
c.1390G>T (p.Glu464Ter)
c.1660G>T (p.Glu554Ter)
c.1669G>T (p.Glu557Ter)
c.1015G>T (p.Glu339Ter)
c.1459G>T (p.Glu487Ter)
 dbSNP gnomAD v4
9g.135769967_135769969delCA467698382KCNT1c.1531_1533del (p.Glu511del)
c.1372_1374del (p.Glu458del)
c.1279_1281del (p.Glu427del)
c.1288_1290del (p.Glu430del)
c.1432_1434del (p.Glu478del)
c.*1141_*1143del (n.*1141_*1143del)
c.1414_1416del (p.Glu472del)
c.1474_1476del (p.Glu492del)
n.1350_1352del
c.1396_1398del (p.Glu466del)
c.1666_1668del (p.Glu556del)
c.1675_1677del (p.Glu559del)
c.1021_1023del (p.Glu341del)
c.1465_1467del (p.Glu489del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135769962A>CCA375505857KCNT1c.1526A>C (p.Glu509Ala)
c.1367A>C (p.Glu456Ala)
c.1274A>C (p.Glu425Ala)
c.1283A>C (p.Glu428Ala)
c.1427A>C (p.Glu476Ala)
c.*1136A>C (n.*1136A>C)
c.1409A>C (p.Glu470Ala)
c.1469A>C (p.Glu490Ala)
n.1345A>C
c.1391A>C (p.Glu464Ala)
c.1661A>C (p.Glu554Ala)
c.1670A>C (p.Glu557Ala)
c.1016A>C (p.Glu339Ala)
c.1460A>C (p.Glu487Ala)
9g.135769962A>GCA375505855KCNT1c.1526A>G (p.Glu509Gly)
c.1367A>G (p.Glu456Gly)
c.1274A>G (p.Glu425Gly)
c.1283A>G (p.Glu428Gly)
c.1427A>G (p.Glu476Gly)
c.*1136A>G (n.*1136A>G)
c.1409A>G (p.Glu470Gly)
c.1469A>G (p.Glu490Gly)
n.1345A>G
c.1391A>G (p.Glu464Gly)
c.1661A>G (p.Glu554Gly)
c.1670A>G (p.Glu557Gly)
c.1016A>G (p.Glu339Gly)
c.1460A>G (p.Glu487Gly)
 gnomAD v4
9g.135769962A>TCA375505856KCNT1c.1526A>T (p.Glu509Val)
c.1367A>T (p.Glu456Val)
c.1274A>T (p.Glu425Val)
c.1283A>T (p.Glu428Val)
c.1427A>T (p.Glu476Val)
c.*1136A>T (n.*1136A>T)
c.1409A>T (p.Glu470Val)
c.1469A>T (p.Glu490Val)
n.1345A>T
c.1391A>T (p.Glu464Val)
c.1661A>T (p.Glu554Val)
c.1670A>T (p.Glu557Val)
c.1016A>T (p.Glu339Val)
c.1460A>T (p.Glu487Val)
 gnomAD v4
9g.135769963G>ACA467698383KCNT1c.1527G>A (p.Glu509=)
c.1368G>A (p.Glu456=)
c.1275G>A (p.Glu425=)
c.1284G>A (p.Glu428=)
c.1428G>A (p.Glu476=)
c.*1137G>A (n.*1137G>A)
c.1410G>A (p.Glu470=)
c.1470G>A (p.Glu490=)
n.1346G>A
c.1392G>A (p.Glu464=)
c.1662G>A (p.Glu554=)
c.1671G>A (p.Glu557=)
c.1017G>A (p.Glu339=)
c.1461G>A (p.Glu487=)
 dbSNP gnomAD v2 gnomAD v4
9g.135769963G>CCA375505858KCNT1c.1527G>C (p.Glu509Asp)
c.1368G>C (p.Glu456Asp)
c.1275G>C (p.Glu425Asp)
c.1284G>C (p.Glu428Asp)
c.1428G>C (p.Glu476Asp)
c.*1137G>C (n.*1137G>C)
c.1410G>C (p.Glu470Asp)
c.1470G>C (p.Glu490Asp)
n.1346G>C
c.1392G>C (p.Glu464Asp)
c.1662G>C (p.Glu554Asp)
c.1671G>C (p.Glu557Asp)
c.1017G>C (p.Glu339Asp)
c.1461G>C (p.Glu487Asp)
9g.135769963G=CA1883872414KCNT1c.1527G= (p.Glu509=)
c.1368G= (p.Glu456=)
c.1275G= (p.Glu425=)
c.1284G= (p.Glu428=)
c.1428G= (p.Glu476=)
c.*1137G= (n.*1137G=)
c.1410G= (p.Glu470=)
c.1470G= (p.Glu490=)
n.1346G=
c.1392G= (p.Glu464=)
c.1662G= (p.Glu554=)
c.1671G= (p.Glu557=)
c.1017G= (p.Glu339=)
c.1461G= (p.Glu487=)
9g.135769963G>TCA375505859KCNT1c.1527G>T (p.Glu509Asp)
c.1368G>T (p.Glu456Asp)
c.1275G>T (p.Glu425Asp)
c.1284G>T (p.Glu428Asp)
c.1428G>T (p.Glu476Asp)
c.*1137G>T (n.*1137G>T)
c.1410G>T (p.Glu470Asp)
c.1470G>T (p.Glu490Asp)
n.1346G>T
c.1392G>T (p.Glu464Asp)
c.1662G>T (p.Glu554Asp)
c.1671G>T (p.Glu557Asp)
c.1017G>T (p.Glu339Asp)
c.1461G>T (p.Glu487Asp)
 gnomAD v4
9g.135769964G>ACA375505860KCNT1c.1528G>A (p.Glu510Lys)
c.1369G>A (p.Glu457Lys)
c.1276G>A (p.Glu426Lys)
c.1285G>A (p.Glu429Lys)
c.1429G>A (p.Glu477Lys)
c.*1138G>A (n.*1138G>A)
c.1411G>A (p.Glu471Lys)
c.1471G>A (p.Glu491Lys)
n.1347G>A
c.1393G>A (p.Glu465Lys)
c.1663G>A (p.Glu555Lys)
c.1672G>A (p.Glu558Lys)
c.1018G>A (p.Glu340Lys)
c.1462G>A (p.Glu488Lys)
 dbSNP gnomAD v3 gnomAD v4
9g.135769964G>CCA375505861KCNT1c.1528G>C (p.Glu510Gln)
c.1369G>C (p.Glu457Gln)
c.1276G>C (p.Glu426Gln)
c.1285G>C (p.Glu429Gln)
c.1429G>C (p.Glu477Gln)
c.*1138G>C (n.*1138G>C)
c.1411G>C (p.Glu471Gln)
c.1471G>C (p.Glu491Gln)
n.1347G>C
c.1393G>C (p.Glu465Gln)
c.1663G>C (p.Glu555Gln)
c.1672G>C (p.Glu558Gln)
c.1018G>C (p.Glu340Gln)
c.1462G>C (p.Glu488Gln)
9g.135769964G=CA1883872415KCNT1c.1528G= (p.Glu510=)
c.1369G= (p.Glu457=)
c.1276G= (p.Glu426=)
c.1285G= (p.Glu429=)
c.1429G= (p.Glu477=)
c.*1138G= (n.*1138G=)
c.1411G= (p.Glu471=)
c.1471G= (p.Glu491=)
n.1347G=
c.1393G= (p.Glu465=)
c.1663G= (p.Glu555=)
c.1672G= (p.Glu558=)
c.1018G= (p.Glu340=)
c.1462G= (p.Glu488=)
9g.135769964G>TCA375505862KCNT1c.1528G>T (p.Glu510Ter)
c.1369G>T (p.Glu457Ter)
c.1276G>T (p.Glu426Ter)
c.1285G>T (p.Glu429Ter)
c.1429G>T (p.Glu477Ter)
c.*1138G>T (n.*1138G>T)
c.1411G>T (p.Glu471Ter)
c.1471G>T (p.Glu491Ter)
n.1347G>T
c.1393G>T (p.Glu465Ter)
c.1663G>T (p.Glu555Ter)
c.1672G>T (p.Glu558Ter)
c.1018G>T (p.Glu340Ter)
c.1462G>T (p.Glu488Ter)
 gnomAD v4
9g.135769965A>CCA375505863KCNT1c.1529A>C (p.Glu510Ala)
c.1370A>C (p.Glu457Ala)
c.1277A>C (p.Glu426Ala)
c.1286A>C (p.Glu429Ala)
c.1430A>C (p.Glu477Ala)
c.*1139A>C (n.*1139A>C)
c.1412A>C (p.Glu471Ala)
c.1472A>C (p.Glu491Ala)
n.1348A>C
c.1394A>C (p.Glu465Ala)
c.1664A>C (p.Glu555Ala)
c.1673A>C (p.Glu558Ala)
c.1019A>C (p.Glu340Ala)
c.1463A>C (p.Glu488Ala)
9g.135769965A>GCA375505865KCNT1c.1529A>G (p.Glu510Gly)
c.1370A>G (p.Glu457Gly)
c.1277A>G (p.Glu426Gly)
c.1286A>G (p.Glu429Gly)
c.1430A>G (p.Glu477Gly)
c.*1139A>G (n.*1139A>G)
c.1412A>G (p.Glu471Gly)
c.1472A>G (p.Glu491Gly)
n.1348A>G
c.1394A>G (p.Glu465Gly)
c.1664A>G (p.Glu555Gly)
c.1673A>G (p.Glu558Gly)
c.1019A>G (p.Glu340Gly)
c.1463A>G (p.Glu488Gly)
9g.135769965A>TCA375505864KCNT1c.1529A>T (p.Glu510Val)
c.1370A>T (p.Glu457Val)
c.1277A>T (p.Glu426Val)
c.1286A>T (p.Glu429Val)
c.1430A>T (p.Glu477Val)
c.*1139A>T (n.*1139A>T)
c.1412A>T (p.Glu471Val)
c.1472A>T (p.Glu491Val)
n.1348A>T
c.1394A>T (p.Glu465Val)
c.1664A>T (p.Glu555Val)
c.1673A>T (p.Glu558Val)
c.1019A>T (p.Glu340Val)
c.1463A>T (p.Glu488Val)
9g.135769966G>ACA5326960KCNT1c.1530G>A (p.Glu510=)
c.1371G>A (p.Glu457=)
c.1278G>A (p.Glu426=)
c.1287G>A (p.Glu429=)
c.1431G>A (p.Glu477=)
c.*1140G>A (n.*1140G>A)
c.1413G>A (p.Glu471=)
c.1473G>A (p.Glu491=)
n.1349G>A
c.1395G>A (p.Glu465=)
c.1665G>A (p.Glu555=)
c.1674G>A (p.Glu558=)
c.1020G>A (p.Glu340=)
c.1464G>A (p.Glu488=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135769966G>CCA375505866KCNT1c.1530G>C (p.Glu510Asp)
c.1371G>C (p.Glu457Asp)
c.1278G>C (p.Glu426Asp)
c.1287G>C (p.Glu429Asp)
c.1431G>C (p.Glu477Asp)
c.*1140G>C (n.*1140G>C)
c.1413G>C (p.Glu471Asp)
c.1473G>C (p.Glu491Asp)
n.1349G>C
c.1395G>C (p.Glu465Asp)
c.1665G>C (p.Glu555Asp)
c.1674G>C (p.Glu558Asp)
c.1020G>C (p.Glu340Asp)
c.1464G>C (p.Glu488Asp)
9g.135769966G=CA1883872418KCNT1c.1530G= (p.Glu510=)
c.1371G= (p.Glu457=)
c.1278G= (p.Glu426=)
c.1287G= (p.Glu429=)
c.1431G= (p.Glu477=)
c.*1140G= (n.*1140G=)
c.1413G= (p.Glu471=)
c.1473G= (p.Glu491=)
n.1349G=
c.1395G= (p.Glu465=)
c.1665G= (p.Glu555=)
c.1674G= (p.Glu558=)
c.1020G= (p.Glu340=)
c.1464G= (p.Glu488=)
9g.135769966G>TCA375505867KCNT1c.1530G>T (p.Glu510Asp)
c.1371G>T (p.Glu457Asp)
c.1278G>T (p.Glu426Asp)
c.1287G>T (p.Glu429Asp)
c.1431G>T (p.Glu477Asp)
c.*1140G>T (n.*1140G>T)
c.1413G>T (p.Glu471Asp)
c.1473G>T (p.Glu491Asp)
n.1349G>T
c.1395G>T (p.Glu465Asp)
c.1665G>T (p.Glu555Asp)
c.1674G>T (p.Glu558Asp)
c.1020G>T (p.Glu340Asp)
c.1464G>T (p.Glu488Asp)
 gnomAD v4
9g.135769967delCA2720684022KCNT1c.1531del (p.Glu511SerfsTer9)
c.1372del (p.Glu458SerfsTer9)
c.1279del (p.Glu427SerfsTer9)
c.1288del (p.Glu430SerfsTer9)
c.1432del (p.Glu478SerfsTer9)
c.*1141del (n.*1141del)
c.1414del (p.Glu472SerfsTer9)
c.1474del (p.Glu492SerfsTer9)
n.1350del
c.1396del (p.Glu466SerfsTer9)
c.1666del (p.Glu556SerfsTer9)
c.1675del (p.Glu559SerfsTer9)
c.1021del (p.Glu341SerfsTer9)
c.1465del (p.Glu489SerfsTer9)
 dbSNP
9g.135769967G>ACA375505868KCNT1c.1531G>A (p.Glu511Lys)
c.1372G>A (p.Glu458Lys)
c.1279G>A (p.Glu427Lys)
c.1288G>A (p.Glu430Lys)
c.1432G>A (p.Glu478Lys)
c.*1141G>A (n.*1141G>A)
c.1414G>A (p.Glu472Lys)
c.1474G>A (p.Glu492Lys)
n.1350G>A
c.1396G>A (p.Glu466Lys)
c.1666G>A (p.Glu556Lys)
c.1675G>A (p.Glu559Lys)
c.1021G>A (p.Glu341Lys)
c.1465G>A (p.Glu489Lys)
 gnomAD v4
9g.135769967G>CCA375505869KCNT1c.1531G>C (p.Glu511Gln)
c.1372G>C (p.Glu458Gln)
c.1279G>C (p.Glu427Gln)
c.1288G>C (p.Glu430Gln)
c.1432G>C (p.Glu478Gln)
c.*1141G>C (n.*1141G>C)
c.1414G>C (p.Glu472Gln)
c.1474G>C (p.Glu492Gln)
n.1350G>C
c.1396G>C (p.Glu466Gln)
c.1666G>C (p.Glu556Gln)
c.1675G>C (p.Glu559Gln)
c.1021G>C (p.Glu341Gln)
c.1465G>C (p.Glu489Gln)
9g.135769967G>TCA375505870KCNT1c.1531G>T (p.Glu511Ter)
c.1372G>T (p.Glu458Ter)
c.1279G>T (p.Glu427Ter)
c.1288G>T (p.Glu430Ter)
c.1432G>T (p.Glu478Ter)
c.*1141G>T (n.*1141G>T)
c.1414G>T (p.Glu472Ter)
c.1474G>T (p.Glu492Ter)
n.1350G>T
c.1396G>T (p.Glu466Ter)
c.1666G>T (p.Glu556Ter)
c.1675G>T (p.Glu559Ter)
c.1021G>T (p.Glu341Ter)
c.1465G>T (p.Glu489Ter)
 gnomAD v4
9g.135769968A=CA1883872422KCNT1c.1532A= (p.Glu511=)
c.1373A= (p.Glu458=)
c.1280A= (p.Glu427=)
c.1289A= (p.Glu430=)
c.1433A= (p.Glu478=)
c.*1142A= (n.*1142A=)
c.1415A= (p.Glu472=)
c.1475A= (p.Glu492=)
n.1351A=
c.1397A= (p.Glu466=)
c.1667A= (p.Glu556=)
c.1676A= (p.Glu559=)
c.1022A= (p.Glu341=)
c.1466A= (p.Glu489=)
9g.135769968A>CCA375505871KCNT1c.1532A>C (p.Glu511Ala)
c.1373A>C (p.Glu458Ala)
c.1280A>C (p.Glu427Ala)
c.1289A>C (p.Glu430Ala)
c.1433A>C (p.Glu478Ala)
c.*1142A>C (n.*1142A>C)
c.1415A>C (p.Glu472Ala)
c.1475A>C (p.Glu492Ala)
n.1351A>C
c.1397A>C (p.Glu466Ala)
c.1667A>C (p.Glu556Ala)
c.1676A>C (p.Glu559Ala)
c.1022A>C (p.Glu341Ala)
c.1466A>C (p.Glu489Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.135769968A>GCA375505872KCNT1c.1532A>G (p.Glu511Gly)
c.1373A>G (p.Glu458Gly)
c.1280A>G (p.Glu427Gly)
c.1289A>G (p.Glu430Gly)
c.1433A>G (p.Glu478Gly)
c.*1142A>G (n.*1142A>G)
c.1415A>G (p.Glu472Gly)
c.1475A>G (p.Glu492Gly)
n.1351A>G
c.1397A>G (p.Glu466Gly)
c.1667A>G (p.Glu556Gly)
c.1676A>G (p.Glu559Gly)
c.1022A>G (p.Glu341Gly)
c.1466A>G (p.Glu489Gly)
 gnomAD v4
9g.135769968A>TCA375505873KCNT1c.1532A>T (p.Glu511Val)
c.1373A>T (p.Glu458Val)
c.1280A>T (p.Glu427Val)
c.1289A>T (p.Glu430Val)
c.1433A>T (p.Glu478Val)
c.*1142A>T (n.*1142A>T)
c.1415A>T (p.Glu472Val)
c.1475A>T (p.Glu492Val)
n.1351A>T
c.1397A>T (p.Glu466Val)
c.1667A>T (p.Glu556Val)
c.1676A>T (p.Glu559Val)
c.1022A>T (p.Glu341Val)
c.1466A>T (p.Glu489Val)
9g.135769969G>ACA207727KCNT1c.1533G>A (p.Glu511=)
c.1374G>A (p.Glu458=)
c.1281G>A (p.Glu427=)
c.1290G>A (p.Glu430=)
c.1434G>A (p.Glu478=)
c.*1143G>A (n.*1143G>A)
c.1416G>A (p.Glu472=)
c.1476G>A (p.Glu492=)
n.1352G>A
c.1398G>A (p.Glu466=)
c.1668G>A (p.Glu556=)
c.1677G>A (p.Glu559=)
c.1023G>A (p.Glu341=)
c.1467G>A (p.Glu489=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135769969G>CCA375505874KCNT1c.1533G>C (p.Glu511Asp)
c.1374G>C (p.Glu458Asp)
c.1281G>C (p.Glu427Asp)
c.1290G>C (p.Glu430Asp)
c.1434G>C (p.Glu478Asp)
c.*1143G>C (n.*1143G>C)
c.1416G>C (p.Glu472Asp)
c.1476G>C (p.Glu492Asp)
n.1352G>C
c.1398G>C (p.Glu466Asp)
c.1668G>C (p.Glu556Asp)
c.1677G>C (p.Glu559Asp)
c.1023G>C (p.Glu341Asp)
c.1467G>C (p.Glu489Asp)
9g.135769969G=CA1883872429KCNT1c.1533G= (p.Glu511=)
c.1374G= (p.Glu458=)
c.1281G= (p.Glu427=)
c.1290G= (p.Glu430=)
c.1434G= (p.Glu478=)
c.*1143G= (n.*1143G=)
c.1416G= (p.Glu472=)
c.1476G= (p.Glu492=)
n.1352G=
c.1398G= (p.Glu466=)
c.1668G= (p.Glu556=)
c.1677G= (p.Glu559=)
c.1023G= (p.Glu341=)
c.1467G= (p.Glu489=)
9g.135769969G>TCA375505875KCNT1c.1533G>T (p.Glu511Asp)
c.1374G>T (p.Glu458Asp)
c.1281G>T (p.Glu427Asp)
c.1290G>T (p.Glu430Asp)
c.1434G>T (p.Glu478Asp)
c.*1143G>T (n.*1143G>T)
c.1416G>T (p.Glu472Asp)
c.1476G>T (p.Glu492Asp)
n.1352G>T
c.1398G>T (p.Glu466Asp)
c.1668G>T (p.Glu556Asp)
c.1677G>T (p.Glu559Asp)
c.1023G>T (p.Glu341Asp)
c.1467G>T (p.Glu489Asp)
 gnomAD v4
9g.135769970T>ACA375505877KCNT1c.1534T>A (p.Cys512Ser)
c.1375T>A (p.Cys459Ser)
c.1282T>A (p.Cys428Ser)
c.1291T>A (p.Cys431Ser)
c.1435T>A (p.Cys479Ser)
c.*1144T>A (n.*1144T>A)
c.1417T>A (p.Cys473Ser)
c.1477T>A (p.Cys493Ser)
n.1353T>A
c.1399T>A (p.Cys467Ser)
c.1669T>A (p.Cys557Ser)
c.1678T>A (p.Cys560Ser)
c.1024T>A (p.Cys342Ser)
c.1468T>A (p.Cys490Ser)
9g.135769970T>CCA375505878KCNT1c.1534T>C (p.Cys512Arg)
c.1375T>C (p.Cys459Arg)
c.1282T>C (p.Cys428Arg)
c.1291T>C (p.Cys431Arg)
c.1435T>C (p.Cys479Arg)
c.*1144T>C (n.*1144T>C)
c.1417T>C (p.Cys473Arg)
c.1477T>C (p.Cys493Arg)
n.1353T>C
c.1399T>C (p.Cys467Arg)
c.1669T>C (p.Cys557Arg)
c.1678T>C (p.Cys560Arg)
c.1024T>C (p.Cys342Arg)
c.1468T>C (p.Cys490Arg)
 ClinVar dbSNP gnomAD v4
9g.135769970T>GCA375505876KCNT1c.1534T>G (p.Cys512Gly)
c.1375T>G (p.Cys459Gly)
c.1282T>G (p.Cys428Gly)
c.1291T>G (p.Cys431Gly)
c.1435T>G (p.Cys479Gly)
c.*1144T>G (n.*1144T>G)
c.1417T>G (p.Cys473Gly)
c.1477T>G (p.Cys493Gly)
n.1353T>G
c.1399T>G (p.Cys467Gly)
c.1669T>G (p.Cys557Gly)
c.1678T>G (p.Cys560Gly)
c.1024T>G (p.Cys342Gly)
c.1468T>G (p.Cys490Gly)
9g.135769970T=CA1883872438KCNT1c.1534T= (p.Cys512=)
c.1375T= (p.Cys459=)
c.1282T= (p.Cys428=)
c.1291T= (p.Cys431=)
c.1435T= (p.Cys479=)
c.*1144T= (n.*1144T=)
c.1417T= (p.Cys473=)
c.1477T= (p.Cys493=)
n.1353T=
c.1399T= (p.Cys467=)
c.1669T= (p.Cys557=)
c.1678T= (p.Cys560=)
c.1024T= (p.Cys342=)
c.1468T= (p.Cys490=)
9g.135769971G>ACA375505881KCNT1c.1535G>A (p.Cys512Tyr)
c.1376G>A (p.Cys459Tyr)
c.1283G>A (p.Cys428Tyr)
c.1292G>A (p.Cys431Tyr)
c.1436G>A (p.Cys479Tyr)
c.*1145G>A (n.*1145G>A)
c.1418G>A (p.Cys473Tyr)
c.1478G>A (p.Cys493Tyr)
n.1354G>A
c.1400G>A (p.Cys467Tyr)
c.1670G>A (p.Cys557Tyr)
c.1679G>A (p.Cys560Tyr)
c.1025G>A (p.Cys342Tyr)
c.1469G>A (p.Cys490Tyr)
 gnomAD v4
9g.135769971G>CCA375505879KCNT1c.1535G>C (p.Cys512Ser)
c.1376G>C (p.Cys459Ser)
c.1283G>C (p.Cys428Ser)
c.1292G>C (p.Cys431Ser)
c.1436G>C (p.Cys479Ser)
c.*1145G>C (n.*1145G>C)
c.1418G>C (p.Cys473Ser)
c.1478G>C (p.Cys493Ser)
n.1354G>C
c.1400G>C (p.Cys467Ser)
c.1670G>C (p.Cys557Ser)
c.1679G>C (p.Cys560Ser)
c.1025G>C (p.Cys342Ser)
c.1469G>C (p.Cys490Ser)
9g.135769971G>TCA375505880KCNT1c.1535G>T (p.Cys512Phe)
c.1376G>T (p.Cys459Phe)
c.1283G>T (p.Cys428Phe)
c.1292G>T (p.Cys431Phe)
c.1436G>T (p.Cys479Phe)
c.*1145G>T (n.*1145G>T)
c.1418G>T (p.Cys473Phe)
c.1478G>T (p.Cys493Phe)
n.1354G>T
c.1400G>T (p.Cys467Phe)
c.1670G>T (p.Cys557Phe)
c.1679G>T (p.Cys560Phe)
c.1025G>T (p.Cys342Phe)
c.1469G>T (p.Cys490Phe)
 gnomAD v4
9g.135769972C>ACA375505882KCNT1c.1536C>A (p.Cys512Ter)
c.1377C>A (p.Cys459Ter)
c.1284C>A (p.Cys428Ter)
c.1293C>A (p.Cys431Ter)
c.1437C>A (p.Cys479Ter)
c.*1146C>A (n.*1146C>A)
c.1419C>A (p.Cys473Ter)
c.1479C>A (p.Cys493Ter)
n.1355C>A
c.1401C>A (p.Cys467Ter)
c.1671C>A (p.Cys557Ter)
c.1680C>A (p.Cys560Ter)
c.1026C>A (p.Cys342Ter)
c.1470C>A (p.Cys490Ter)
 gnomAD v4
9g.135769972C>GCA375505883KCNT1c.1536C>G (p.Cys512Trp)
c.1377C>G (p.Cys459Trp)
c.1284C>G (p.Cys428Trp)
c.1293C>G (p.Cys431Trp)
c.1437C>G (p.Cys479Trp)
c.*1146C>G (n.*1146C>G)
c.1419C>G (p.Cys473Trp)
c.1479C>G (p.Cys493Trp)
n.1355C>G
c.1401C>G (p.Cys467Trp)
c.1671C>G (p.Cys557Trp)
c.1680C>G (p.Cys560Trp)
c.1026C>G (p.Cys342Trp)
c.1470C>G (p.Cys490Trp)
9g.135769972C>TCA467698384KCNT1c.1536C>T (p.Cys512=)
c.1377C>T (p.Cys459=)
c.1284C>T (p.Cys428=)
c.1293C>T (p.Cys431=)
c.1437C>T (p.Cys479=)
c.*1146C>T (n.*1146C>T)
c.1419C>T (p.Cys473=)
c.1479C>T (p.Cys493=)
n.1355C>T
c.1401C>T (p.Cys467=)
c.1671C>T (p.Cys557=)
c.1680C>T (p.Cys560=)
c.1026C>T (p.Cys342=)
c.1470C>T (p.Cys490=)
 gnomAD v4
9g.135769973A>CCA375505884KCNT1c.1537A>C (p.Lys513Gln)
c.1378A>C (p.Lys460Gln)
c.1285A>C (p.Lys429Gln)
c.1294A>C (p.Lys432Gln)
c.1438A>C (p.Lys480Gln)
c.*1147A>C (n.*1147A>C)
c.1420A>C (p.Lys474Gln)
c.1480A>C (p.Lys494Gln)
n.1356A>C
c.1402A>C (p.Lys468Gln)
c.1672A>C (p.Lys558Gln)
c.1681A>C (p.Lys561Gln)
c.1027A>C (p.Lys343Gln)
c.1471A>C (p.Lys491Gln)
9g.135769973A>GCA375505885KCNT1c.1537A>G (p.Lys513Glu)
c.1378A>G (p.Lys460Glu)
c.1285A>G (p.Lys429Glu)
c.1294A>G (p.Lys432Glu)
c.1438A>G (p.Lys480Glu)
c.*1147A>G (n.*1147A>G)
c.1420A>G (p.Lys474Glu)
c.1480A>G (p.Lys494Glu)
n.1356A>G
c.1402A>G (p.Lys468Glu)
c.1672A>G (p.Lys558Glu)
c.1681A>G (p.Lys561Glu)
c.1027A>G (p.Lys343Glu)
c.1471A>G (p.Lys491Glu)
 gnomAD v4
9g.135769973A>TCA375505886KCNT1c.1537A>T (p.Lys513Ter)
c.1378A>T (p.Lys460Ter)
c.1285A>T (p.Lys429Ter)
c.1294A>T (p.Lys432Ter)
c.1438A>T (p.Lys480Ter)
c.*1147A>T (n.*1147A>T)
c.1420A>T (p.Lys474Ter)
c.1480A>T (p.Lys494Ter)
n.1356A>T
c.1402A>T (p.Lys468Ter)
c.1672A>T (p.Lys558Ter)
c.1681A>T (p.Lys561Ter)
c.1027A>T (p.Lys343Ter)
c.1471A>T (p.Lys491Ter)
 gnomAD v4
9g.135769974A>CCA375505887KCNT1c.1538A>C (p.Lys513Thr)
c.1379A>C (p.Lys460Thr)
c.1286A>C (p.Lys429Thr)
c.1295A>C (p.Lys432Thr)
c.1439A>C (p.Lys480Thr)
c.*1148A>C (n.*1148A>C)
c.1421A>C (p.Lys474Thr)
c.1481A>C (p.Lys494Thr)
n.1357A>C
c.1403A>C (p.Lys468Thr)
c.1673A>C (p.Lys558Thr)
c.1682A>C (p.Lys561Thr)
c.1028A>C (p.Lys343Thr)
c.1472A>C (p.Lys491Thr)
9g.135769974A>GCA375505888KCNT1c.1538A>G (p.Lys513Arg)
c.1379A>G (p.Lys460Arg)
c.1286A>G (p.Lys429Arg)
c.1295A>G (p.Lys432Arg)
c.1439A>G (p.Lys480Arg)
c.*1148A>G (n.*1148A>G)
c.1421A>G (p.Lys474Arg)
c.1481A>G (p.Lys494Arg)
n.1357A>G
c.1403A>G (p.Lys468Arg)
c.1673A>G (p.Lys558Arg)
c.1682A>G (p.Lys561Arg)
c.1028A>G (p.Lys343Arg)
c.1472A>G (p.Lys491Arg)
 gnomAD v4
9g.135769974A>TCA375505889KCNT1c.1538A>T (p.Lys513Met)
c.1379A>T (p.Lys460Met)
c.1286A>T (p.Lys429Met)
c.1295A>T (p.Lys432Met)
c.1439A>T (p.Lys480Met)
c.*1148A>T (n.*1148A>T)
c.1421A>T (p.Lys474Met)
c.1481A>T (p.Lys494Met)
n.1357A>T
c.1403A>T (p.Lys468Met)
c.1673A>T (p.Lys558Met)
c.1682A>T (p.Lys561Met)
c.1028A>T (p.Lys343Met)
c.1472A>T (p.Lys491Met)
9g.135769975G>ACA467698385KCNT1c.1539G>A (p.Lys513=)
c.1380G>A (p.Lys460=)
c.1287G>A (p.Lys429=)
c.1296G>A (p.Lys432=)
c.1440G>A (p.Lys480=)
c.*1149G>A (n.*1149G>A)
c.1422G>A (p.Lys474=)
c.1482G>A (p.Lys494=)
n.1358G>A
c.1404G>A (p.Lys468=)
c.1674G>A (p.Lys558=)
c.1683G>A (p.Lys561=)
c.1029G>A (p.Lys343=)
c.1473G>A (p.Lys491=)
 gnomAD v4
9g.135769975G>CCA375505890KCNT1c.1539G>C (p.Lys513Asn)
c.1380G>C (p.Lys460Asn)
c.1287G>C (p.Lys429Asn)
c.1296G>C (p.Lys432Asn)
c.1440G>C (p.Lys480Asn)
c.*1149G>C (n.*1149G>C)
c.1422G>C (p.Lys474Asn)
c.1482G>C (p.Lys494Asn)
n.1358G>C
c.1404G>C (p.Lys468Asn)
c.1674G>C (p.Lys558Asn)
c.1683G>C (p.Lys561Asn)
c.1029G>C (p.Lys343Asn)
c.1473G>C (p.Lys491Asn)
9g.135769975G>TCA375505891KCNT1c.1539G>T (p.Lys513Asn)
c.1380G>T (p.Lys460Asn)
c.1287G>T (p.Lys429Asn)
c.1296G>T (p.Lys432Asn)
c.1440G>T (p.Lys480Asn)
c.*1149G>T (n.*1149G>T)
c.1422G>T (p.Lys474Asn)
c.1482G>T (p.Lys494Asn)
n.1358G>T
c.1404G>T (p.Lys468Asn)
c.1674G>T (p.Lys558Asn)
c.1683G>T (p.Lys561Asn)
c.1029G>T (p.Lys343Asn)
c.1473G>T (p.Lys491Asn)
 gnomAD v4
9g.135769976_135769979dupCA2740092932KCNT1c.1540_1543dup (p.Ala515ValfsTer?)
c.1381_1384dup (p.Ala462ValfsTer?)
c.1288_1291dup (p.Ala431ValfsTer?)
c.1297_1300dup (p.Ala434ValfsTer?)
c.1441_1444dup (p.Ala482ValfsTer?)
c.*1150_*1153dup (n.*1150_*1153dup)
c.1423_1426dup (p.Ala476ValfsTer?)
c.1483_1486dup (p.Ala496ValfsTer?)
n.1359_1362dup
c.1405_1408dup (p.Ala470ValfsTer?)
c.1675_1678dup (p.Ala560ValfsTer?)
c.1684_1687dup (p.Ala563ValfsTer?)
c.1030_1033dup (p.Ala345ValfsTer?)
c.1474_1477dup (p.Ala493ValfsTer?)
 ClinVar
9g.135769976T>ACA375505893KCNT1c.1540T>A (p.Tyr514Asn)
c.1381T>A (p.Tyr461Asn)
c.1288T>A (p.Tyr430Asn)
c.1297T>A (p.Tyr433Asn)
c.1441T>A (p.Tyr481Asn)
c.*1150T>A (n.*1150T>A)
c.1423T>A (p.Tyr475Asn)
c.1483T>A (p.Tyr495Asn)
n.1359T>A
c.1405T>A (p.Tyr469Asn)
c.1675T>A (p.Tyr559Asn)
c.1684T>A (p.Tyr562Asn)
c.1030T>A (p.Tyr344Asn)
c.1474T>A (p.Tyr492Asn)
9g.135769976T>CCA375505894KCNT1c.1540T>C (p.Tyr514His)
c.1381T>C (p.Tyr461His)
c.1288T>C (p.Tyr430His)
c.1297T>C (p.Tyr433His)
c.1441T>C (p.Tyr481His)
c.*1150T>C (n.*1150T>C)
c.1423T>C (p.Tyr475His)
c.1483T>C (p.Tyr495His)
n.1359T>C
c.1405T>C (p.Tyr469His)
c.1675T>C (p.Tyr559His)
c.1684T>C (p.Tyr562His)
c.1030T>C (p.Tyr344His)
c.1474T>C (p.Tyr492His)
 gnomAD v4
9g.135769976T>GCA375505892KCNT1c.1540T>G (p.Tyr514Asp)
c.1381T>G (p.Tyr461Asp)
c.1288T>G (p.Tyr430Asp)
c.1297T>G (p.Tyr433Asp)
c.1441T>G (p.Tyr481Asp)
c.*1150T>G (n.*1150T>G)
c.1423T>G (p.Tyr475Asp)
c.1483T>G (p.Tyr495Asp)
n.1359T>G
c.1405T>G (p.Tyr469Asp)
c.1675T>G (p.Tyr559Asp)
c.1684T>G (p.Tyr562Asp)
c.1030T>G (p.Tyr344Asp)
c.1474T>G (p.Tyr492Asp)
9g.135769977A>CCA375505895KCNT1c.1541A>C (p.Tyr514Ser)
c.1382A>C (p.Tyr461Ser)
c.1289A>C (p.Tyr430Ser)
c.1298A>C (p.Tyr433Ser)
c.1442A>C (p.Tyr481Ser)
c.*1151A>C (n.*1151A>C)
c.1424A>C (p.Tyr475Ser)
c.1484A>C (p.Tyr495Ser)
n.1360A>C
c.1406A>C (p.Tyr469Ser)
c.1676A>C (p.Tyr559Ser)
c.1685A>C (p.Tyr562Ser)
c.1031A>C (p.Tyr344Ser)
c.1475A>C (p.Tyr492Ser)
9g.135769977A>GCA375505896KCNT1c.1541A>G (p.Tyr514Cys)
c.1382A>G (p.Tyr461Cys)
c.1289A>G (p.Tyr430Cys)
c.1298A>G (p.Tyr433Cys)
c.1442A>G (p.Tyr481Cys)
c.*1151A>G (n.*1151A>G)
c.1424A>G (p.Tyr475Cys)
c.1484A>G (p.Tyr495Cys)
n.1360A>G
c.1406A>G (p.Tyr469Cys)
c.1676A>G (p.Tyr559Cys)
c.1685A>G (p.Tyr562Cys)
c.1031A>G (p.Tyr344Cys)
c.1475A>G (p.Tyr492Cys)
9g.135769977A>TCA375505897KCNT1c.1541A>T (p.Tyr514Phe)
c.1382A>T (p.Tyr461Phe)
c.1289A>T (p.Tyr430Phe)
c.1298A>T (p.Tyr433Phe)
c.1442A>T (p.Tyr481Phe)
c.*1151A>T (n.*1151A>T)
c.1424A>T (p.Tyr475Phe)
c.1484A>T (p.Tyr495Phe)
n.1360A>T
c.1406A>T (p.Tyr469Phe)
c.1676A>T (p.Tyr559Phe)
c.1685A>T (p.Tyr562Phe)
c.1031A>T (p.Tyr344Phe)
c.1475A>T (p.Tyr492Phe)
9g.135769978C>ACA375505898KCNT1c.1542C>A (p.Tyr514Ter)
c.1383C>A (p.Tyr461Ter)
c.1290C>A (p.Tyr430Ter)
c.1299C>A (p.Tyr433Ter)
c.1443C>A (p.Tyr481Ter)
c.*1152C>A (n.*1152C>A)
c.1425C>A (p.Tyr475Ter)
c.1485C>A (p.Tyr495Ter)
n.1361C>A
c.1407C>A (p.Tyr469Ter)
c.1677C>A (p.Tyr559Ter)
c.1686C>A (p.Tyr562Ter)
c.1032C>A (p.Tyr344Ter)
c.1476C>A (p.Tyr492Ter)
 gnomAD v4
9g.135769978C=CA1883872442KCNT1c.1542C= (p.Tyr514=)
c.1383C= (p.Tyr461=)
c.1290C= (p.Tyr430=)
c.1299C= (p.Tyr433=)
c.1443C= (p.Tyr481=)
c.*1152C= (n.*1152C=)
c.1425C= (p.Tyr475=)
c.1485C= (p.Tyr495=)
n.1361C=
c.1407C= (p.Tyr469=)
c.1677C= (p.Tyr559=)
c.1686C= (p.Tyr562=)
c.1032C= (p.Tyr344=)
c.1476C= (p.Tyr492=)
9g.135769978C>GCA375505899KCNT1c.1542C>G (p.Tyr514Ter)
c.1383C>G (p.Tyr461Ter)
c.1290C>G (p.Tyr430Ter)
c.1299C>G (p.Tyr433Ter)
c.1443C>G (p.Tyr481Ter)
c.*1152C>G (n.*1152C>G)
c.1425C>G (p.Tyr475Ter)
c.1485C>G (p.Tyr495Ter)
n.1361C>G
c.1407C>G (p.Tyr469Ter)
c.1677C>G (p.Tyr559Ter)
c.1686C>G (p.Tyr562Ter)
c.1032C>G (p.Tyr344Ter)
c.1476C>G (p.Tyr492Ter)
 gnomAD v4
9g.135769978C>TCA5326961KCNT1c.1542C>T (p.Tyr514=)
c.1383C>T (p.Tyr461=)
c.1290C>T (p.Tyr430=)
c.1299C>T (p.Tyr433=)
c.1443C>T (p.Tyr481=)
c.*1152C>T (n.*1152C>T)
c.1425C>T (p.Tyr475=)
c.1485C>T (p.Tyr495=)
n.1361C>T
c.1407C>T (p.Tyr469=)
c.1677C>T (p.Tyr559=)
c.1686C>T (p.Tyr562=)
c.1032C>T (p.Tyr344=)
c.1476C>T (p.Tyr492=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135769979G>ACA375505900KCNT1c.1543G>A (p.Ala515Thr)
c.1384G>A (p.Ala462Thr)
c.1291G>A (p.Ala431Thr)
c.1300G>A (p.Ala434Thr)
c.1444G>A (p.Ala482Thr)
c.*1153G>A (n.*1153G>A)
c.1426G>A (p.Ala476Thr)
c.1486G>A (p.Ala496Thr)
n.1362G>A
c.1408G>A (p.Ala470Thr)
c.1678G>A (p.Ala560Thr)
c.1687G>A (p.Ala563Thr)
c.1033G>A (p.Ala345Thr)
c.1477G>A (p.Ala493Thr)
 dbSNP gnomAD v4
9g.135769979G>CCA375505902KCNT1c.1543G>C (p.Ala515Pro)
c.1384G>C (p.Ala462Pro)
c.1291G>C (p.Ala431Pro)
c.1300G>C (p.Ala434Pro)
c.1444G>C (p.Ala482Pro)
c.*1153G>C (n.*1153G>C)
c.1426G>C (p.Ala476Pro)
c.1486G>C (p.Ala496Pro)
n.1362G>C
c.1408G>C (p.Ala470Pro)
c.1678G>C (p.Ala560Pro)
c.1687G>C (p.Ala563Pro)
c.1033G>C (p.Ala345Pro)
c.1477G>C (p.Ala493Pro)
 gnomAD v4
9g.135769979G=CA1883872448KCNT1c.1543G= (p.Ala515=)
c.1384G= (p.Ala462=)
c.1291G= (p.Ala431=)
c.1300G= (p.Ala434=)
c.1444G= (p.Ala482=)
c.*1153G= (n.*1153G=)
c.1426G= (p.Ala476=)
c.1486G= (p.Ala496=)
n.1362G=
c.1408G= (p.Ala470=)
c.1678G= (p.Ala560=)
c.1687G= (p.Ala563=)
c.1033G= (p.Ala345=)
c.1477G= (p.Ala493=)
9g.135769979G>TCA375505901KCNT1c.1543G>T (p.Ala515Ser)
c.1384G>T (p.Ala462Ser)
c.1291G>T (p.Ala431Ser)
c.1300G>T (p.Ala434Ser)
c.1444G>T (p.Ala482Ser)
c.*1153G>T (n.*1153G>T)
c.1426G>T (p.Ala476Ser)
c.1486G>T (p.Ala496Ser)
n.1362G>T
c.1408G>T (p.Ala470Ser)
c.1678G>T (p.Ala560Ser)
c.1687G>T (p.Ala563Ser)
c.1033G>T (p.Ala345Ser)
c.1477G>T (p.Ala493Ser)
 dbSNP gnomAD v4
9g.135769980C>ACA375505903KCNT1c.1544C>A (p.Ala515Asp)
c.1385C>A (p.Ala462Asp)
c.1292C>A (p.Ala431Asp)
c.1301C>A (p.Ala434Asp)
c.1445C>A (p.Ala482Asp)
c.*1154C>A (n.*1154C>A)
c.1427C>A (p.Ala476Asp)
c.1487C>A (p.Ala496Asp)
n.1363C>A
c.1409C>A (p.Ala470Asp)
c.1679C>A (p.Ala560Asp)
c.1688C>A (p.Ala563Asp)
c.1034C>A (p.Ala345Asp)
c.1478C>A (p.Ala493Asp)
 gnomAD v4
9g.135769980C>GCA375505904KCNT1c.1544C>G (p.Ala515Gly)
c.1385C>G (p.Ala462Gly)
c.1292C>G (p.Ala431Gly)
c.1301C>G (p.Ala434Gly)
c.1445C>G (p.Ala482Gly)
c.*1154C>G (n.*1154C>G)
c.1427C>G (p.Ala476Gly)
c.1487C>G (p.Ala496Gly)
n.1363C>G
c.1409C>G (p.Ala470Gly)
c.1679C>G (p.Ala560Gly)
c.1688C>G (p.Ala563Gly)
c.1034C>G (p.Ala345Gly)
c.1478C>G (p.Ala493Gly)
9g.135769980C>TCA375505905KCNT1c.1544C>T (p.Ala515Val)
c.1385C>T (p.Ala462Val)
c.1292C>T (p.Ala431Val)
c.1301C>T (p.Ala434Val)
c.1445C>T (p.Ala482Val)
c.*1154C>T (n.*1154C>T)
c.1427C>T (p.Ala476Val)
c.1487C>T (p.Ala496Val)
n.1363C>T
c.1409C>T (p.Ala470Val)
c.1679C>T (p.Ala560Val)
c.1688C>T (p.Ala563Val)
c.1034C>T (p.Ala345Val)
c.1478C>T (p.Ala493Val)
 gnomAD v4
9g.135769981C>ACA467698386KCNT1c.1545C>A (p.Ala515=)
c.1386C>A (p.Ala462=)
c.1293C>A (p.Ala431=)
c.1302C>A (p.Ala434=)
c.1446C>A (p.Ala482=)
c.*1155C>A (n.*1155C>A)
c.1428C>A (p.Ala476=)
c.1488C>A (p.Ala496=)
n.1364C>A
c.1410C>A (p.Ala470=)
c.1680C>A (p.Ala560=)
c.1689C>A (p.Ala563=)
c.1035C>A (p.Ala345=)
c.1479C>A (p.Ala493=)
 gnomAD v4
9g.135769981C=CA1883872452KCNT1c.1545C= (p.Ala515=)
c.1386C= (p.Ala462=)
c.1293C= (p.Ala431=)
c.1302C= (p.Ala434=)
c.1446C= (p.Ala482=)
c.*1155C= (n.*1155C=)
c.1428C= (p.Ala476=)
c.1488C= (p.Ala496=)
n.1364C=
c.1410C= (p.Ala470=)
c.1680C= (p.Ala560=)
c.1689C= (p.Ala563=)
c.1035C= (p.Ala345=)
c.1479C= (p.Ala493=)
9g.135769981C>GCA467698387KCNT1c.1545C>G (p.Ala515=)
c.1386C>G (p.Ala462=)
c.1293C>G (p.Ala431=)
c.1302C>G (p.Ala434=)
c.1446C>G (p.Ala482=)
c.*1155C>G (n.*1155C>G)
c.1428C>G (p.Ala476=)
c.1488C>G (p.Ala496=)
n.1364C>G
c.1410C>G (p.Ala470=)
c.1680C>G (p.Ala560=)
c.1689C>G (p.Ala563=)
c.1035C>G (p.Ala345=)
c.1479C>G (p.Ala493=)
9g.135769981C>TCA5326962KCNT1c.1545C>T (p.Ala515=)
c.1386C>T (p.Ala462=)
c.1293C>T (p.Ala431=)
c.1302C>T (p.Ala434=)
c.1446C>T (p.Ala482=)
c.*1155C>T (n.*1155C>T)
c.1428C>T (p.Ala476=)
c.1488C>T (p.Ala496=)
n.1364C>T
c.1410C>T (p.Ala470=)
c.1680C>T (p.Ala560=)
c.1689C>T (p.Ala563=)
c.1035C>T (p.Ala345=)
c.1479C>T (p.Ala493=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135769982A=CA1883872461KCNT1c.1546A= (p.Met516=)
c.1387A= (p.Met463=)
c.1294A= (p.Met432=)
c.1303A= (p.Met435=)
c.1447A= (p.Met483=)
c.*1156A= (n.*1156A=)
c.1429A= (p.Met477=)
c.1489A= (p.Met497=)
n.1365A=
c.1411A= (p.Met471=)
c.1681A= (p.Met561=)
c.1690A= (p.Met564=)
c.1036A= (p.Met346=)
c.1480A= (p.Met494=)
9g.135769982A>CCA375505907KCNT1c.1546A>C (p.Met516Leu)
c.1387A>C (p.Met463Leu)
c.1294A>C (p.Met432Leu)
c.1303A>C (p.Met435Leu)
c.1447A>C (p.Met483Leu)
c.*1156A>C (n.*1156A>C)
c.1429A>C (p.Met477Leu)
c.1489A>C (p.Met497Leu)
n.1365A>C
c.1411A>C (p.Met471Leu)
c.1681A>C (p.Met561Leu)
c.1690A>C (p.Met564Leu)
c.1036A>C (p.Met346Leu)
c.1480A>C (p.Met494Leu)
9g.135769982A>GCA10603124KCNT1c.1546A>G (p.Met516Val)
c.1387A>G (p.Met463Val)
c.1294A>G (p.Met432Val)
c.1303A>G (p.Met435Val)
c.1447A>G (p.Met483Val)
c.*1156A>G (n.*1156A>G)
c.1429A>G (p.Met477Val)
c.1489A>G (p.Met497Val)
n.1365A>G
c.1411A>G (p.Met471Val)
c.1681A>G (p.Met561Val)
c.1690A>G (p.Met564Val)
c.1036A>G (p.Met346Val)
c.1480A>G (p.Met494Val)
 ClinVar dbSNP gnomAD v4
9g.135769982A>TCA375505906KCNT1c.1546A>T (p.Met516Leu)
c.1387A>T (p.Met463Leu)
c.1294A>T (p.Met432Leu)
c.1303A>T (p.Met435Leu)
c.1447A>T (p.Met483Leu)
c.*1156A>T (n.*1156A>T)
c.1429A>T (p.Met477Leu)
c.1489A>T (p.Met497Leu)
n.1365A>T
c.1411A>T (p.Met471Leu)
c.1681A>T (p.Met561Leu)
c.1690A>T (p.Met564Leu)
c.1036A>T (p.Met346Leu)
c.1480A>T (p.Met494Leu)
 gnomAD v4
9g.135769983T>ACA375505908KCNT1c.1547T>A (p.Met516Lys)
c.1388T>A (p.Met463Lys)
c.1295T>A (p.Met432Lys)
c.1304T>A (p.Met435Lys)
c.1448T>A (p.Met483Lys)
c.*1157T>A (n.*1157T>A)
c.1430T>A (p.Met477Lys)
c.1490T>A (p.Met497Lys)
n.1366T>A
c.1412T>A (p.Met471Lys)
c.1682T>A (p.Met561Lys)
c.1691T>A (p.Met564Lys)
c.1037T>A (p.Met346Lys)
c.1481T>A (p.Met494Lys)
9g.135769983T>CCA375505909KCNT1c.1547T>C (p.Met516Thr)
c.1388T>C (p.Met463Thr)
c.1295T>C (p.Met432Thr)
c.1304T>C (p.Met435Thr)
c.1448T>C (p.Met483Thr)
c.*1157T>C (n.*1157T>C)
c.1430T>C (p.Met477Thr)
c.1490T>C (p.Met497Thr)
n.1366T>C
c.1412T>C (p.Met471Thr)
c.1682T>C (p.Met561Thr)
c.1691T>C (p.Met564Thr)
c.1037T>C (p.Met346Thr)
c.1481T>C (p.Met494Thr)
9g.135769983T>GCA375505910KCNT1c.1547T>G (p.Met516Arg)
c.1388T>G (p.Met463Arg)
c.1295T>G (p.Met432Arg)
c.1304T>G (p.Met435Arg)
c.1448T>G (p.Met483Arg)
c.*1157T>G (n.*1157T>G)
c.1430T>G (p.Met477Arg)
c.1490T>G (p.Met497Arg)
n.1366T>G
c.1412T>G (p.Met471Arg)
c.1682T>G (p.Met561Arg)
c.1691T>G (p.Met564Arg)
c.1037T>G (p.Met346Arg)
c.1481T>G (p.Met494Arg)
9g.135769984G>ACA375505911KCNT1c.1548G>A (p.Met516Ile)
c.1389G>A (p.Met463Ile)
c.1296G>A (p.Met432Ile)
c.1305G>A (p.Met435Ile)
c.1449G>A (p.Met483Ile)
c.*1158G>A (n.*1158G>A)
c.1431G>A (p.Met477Ile)
c.1491G>A (p.Met497Ile)
n.1367G>A
c.1413G>A (p.Met471Ile)
c.1683G>A (p.Met561Ile)
c.1692G>A (p.Met564Ile)
c.1038G>A (p.Met346Ile)
c.1482G>A (p.Met494Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.135769984G>CCA375505912KCNT1c.1548G>C (p.Met516Ile)
c.1389G>C (p.Met463Ile)
c.1296G>C (p.Met432Ile)
c.1305G>C (p.Met435Ile)
c.1449G>C (p.Met483Ile)
c.*1158G>C (n.*1158G>C)
c.1431G>C (p.Met477Ile)
c.1491G>C (p.Met497Ile)
n.1367G>C
c.1413G>C (p.Met471Ile)
c.1683G>C (p.Met561Ile)
c.1692G>C (p.Met564Ile)
c.1038G>C (p.Met346Ile)
c.1482G>C (p.Met494Ile)
9g.135769984G=CA1883872469KCNT1c.1548G= (p.Met516=)
c.1389G= (p.Met463=)
c.1296G= (p.Met432=)
c.1305G= (p.Met435=)
c.1449G= (p.Met483=)
c.*1158G= (n.*1158G=)
c.1431G= (p.Met477=)
c.1491G= (p.Met497=)
n.1367G=
c.1413G= (p.Met471=)
c.1683G= (p.Met561=)
c.1692G= (p.Met564=)
c.1038G= (p.Met346=)
c.1482G= (p.Met494=)
9g.135769984G>TCA375505913KCNT1c.1548G>T (p.Met516Ile)
c.1389G>T (p.Met463Ile)
c.1296G>T (p.Met432Ile)
c.1305G>T (p.Met435Ile)
c.1449G>T (p.Met483Ile)
c.*1158G>T (n.*1158G>T)
c.1431G>T (p.Met477Ile)
c.1491G>T (p.Met497Ile)
n.1367G>T
c.1413G>T (p.Met471Ile)
c.1683G>T (p.Met561Ile)
c.1692G>T (p.Met564Ile)
c.1038G>T (p.Met346Ile)
c.1482G>T (p.Met494Ile)
 gnomAD v4
9g.135769985C>ACA375505915KCNT1c.1549C>A (p.Leu517Met)
c.1390C>A (p.Leu464Met)
c.1297C>A (p.Leu433Met)
c.1306C>A (p.Leu436Met)
c.1450C>A (p.Leu484Met)
c.*1159C>A (n.*1159C>A)
c.1432C>A (p.Leu478Met)
c.1492C>A (p.Leu498Met)
n.1368C>A
c.1414C>A (p.Leu472Met)
c.1684C>A (p.Leu562Met)
c.1693C>A (p.Leu565Met)
c.1039C>A (p.Leu347Met)
c.1483C>A (p.Leu495Met)
 gnomAD v4
9g.135769985C=CA1883872473KCNT1c.1549C= (p.Leu517=)
c.1390C= (p.Leu464=)
c.1297C= (p.Leu433=)
c.1306C= (p.Leu436=)
c.1450C= (p.Leu484=)
c.*1159C= (n.*1159C=)
c.1432C= (p.Leu478=)
c.1492C= (p.Leu498=)
n.1368C=
c.1414C= (p.Leu472=)
c.1684C= (p.Leu562=)
c.1693C= (p.Leu565=)
c.1039C= (p.Leu347=)
c.1483C= (p.Leu495=)
9g.135769985C>GCA375505914KCNT1c.1549C>G (p.Leu517Val)
c.1390C>G (p.Leu464Val)
c.1297C>G (p.Leu433Val)
c.1306C>G (p.Leu436Val)
c.1450C>G (p.Leu484Val)
c.*1159C>G (n.*1159C>G)
c.1432C>G (p.Leu478Val)
c.1492C>G (p.Leu498Val)
n.1368C>G
c.1414C>G (p.Leu472Val)
c.1684C>G (p.Leu562Val)
c.1693C>G (p.Leu565Val)
c.1039C>G (p.Leu347Val)
c.1483C>G (p.Leu495Val)
9g.135769985C>TCA467698388KCNT1c.1549C>T (p.Leu517=)
c.1390C>T (p.Leu464=)
c.1297C>T (p.Leu433=)
c.1306C>T (p.Leu436=)
c.1450C>T (p.Leu484=)
c.*1159C>T (n.*1159C>T)
c.1432C>T (p.Leu478=)
c.1492C>T (p.Leu498=)
n.1368C>T
c.1414C>T (p.Leu472=)
c.1684C>T (p.Leu562=)
c.1693C>T (p.Leu565=)
c.1039C>T (p.Leu347=)
c.1483C>T (p.Leu495=)
 dbSNP gnomAD v2 gnomAD v4
9g.135769986T>ACA375505916KCNT1c.1550T>A (p.Leu517Gln)
c.1391T>A (p.Leu464Gln)
c.1298T>A (p.Leu433Gln)
c.1307T>A (p.Leu436Gln)
c.1451T>A (p.Leu484Gln)
c.*1160T>A (n.*1160T>A)
c.1433T>A (p.Leu478Gln)
c.1493T>A (p.Leu498Gln)
n.1369T>A
c.1415T>A (p.Leu472Gln)
c.1685T>A (p.Leu562Gln)
c.1694T>A (p.Leu565Gln)
c.1040T>A (p.Leu347Gln)
c.1484T>A (p.Leu495Gln)
 gnomAD v4
9g.135769986T>CCA375505917KCNT1c.1550T>C (p.Leu517Pro)
c.1391T>C (p.Leu464Pro)
c.1298T>C (p.Leu433Pro)
c.1307T>C (p.Leu436Pro)
c.1451T>C (p.Leu484Pro)
c.*1160T>C (n.*1160T>C)
c.1433T>C (p.Leu478Pro)
c.1493T>C (p.Leu498Pro)
n.1369T>C
c.1415T>C (p.Leu472Pro)
c.1685T>C (p.Leu562Pro)
c.1694T>C (p.Leu565Pro)
c.1040T>C (p.Leu347Pro)
c.1484T>C (p.Leu495Pro)
 gnomAD v4
9g.135769986T>GCA375505918KCNT1c.1550T>G (p.Leu517Arg)
c.1391T>G (p.Leu464Arg)
c.1298T>G (p.Leu433Arg)
c.1307T>G (p.Leu436Arg)
c.1451T>G (p.Leu484Arg)
c.*1160T>G (n.*1160T>G)
c.1433T>G (p.Leu478Arg)
c.1493T>G (p.Leu498Arg)
n.1369T>G
c.1415T>G (p.Leu472Arg)
c.1685T>G (p.Leu562Arg)
c.1694T>G (p.Leu565Arg)
c.1040T>G (p.Leu347Arg)
c.1484T>G (p.Leu495Arg)
9g.135769987G>ACA467698391KCNT1c.1551G>A (p.Leu517=)
c.1392G>A (p.Leu464=)
c.1299G>A (p.Leu433=)
c.1308G>A (p.Leu436=)
c.1452G>A (p.Leu484=)
c.*1161G>A (n.*1161G>A)
c.1434G>A (p.Leu478=)
c.1494G>A (p.Leu498=)
n.1370G>A
c.1416G>A (p.Leu472=)
c.1686G>A (p.Leu562=)
c.1695G>A (p.Leu565=)
c.1041G>A (p.Leu347=)
c.1485G>A (p.Leu495=)
9g.135769987G>CCA467698390KCNT1c.1551G>C (p.Leu517=)
c.1392G>C (p.Leu464=)
c.1299G>C (p.Leu433=)
c.1308G>C (p.Leu436=)
c.1452G>C (p.Leu484=)
c.*1161G>C (n.*1161G>C)
c.1434G>C (p.Leu478=)
c.1494G>C (p.Leu498=)
n.1370G>C
c.1416G>C (p.Leu472=)
c.1686G>C (p.Leu562=)
c.1695G>C (p.Leu565=)
c.1041G>C (p.Leu347=)
c.1485G>C (p.Leu495=)
9g.135769987G>TCA467698389KCNT1c.1551G>T (p.Leu517=)
c.1392G>T (p.Leu464=)
c.1299G>T (p.Leu433=)
c.1308G>T (p.Leu436=)
c.1452G>T (p.Leu484=)
c.*1161G>T (n.*1161G>T)
c.1434G>T (p.Leu478=)
c.1494G>T (p.Leu498=)
n.1370G>T
c.1416G>T (p.Leu472=)
c.1686G>T (p.Leu562=)
c.1695G>T (p.Leu565=)
c.1041G>T (p.Leu347=)
c.1485G>T (p.Leu495=)
 gnomAD v4
9g.135769988G>ACA375505919KCNT1c.1552G>A (p.Ala518Thr)
c.1393G>A (p.Ala465Thr)
c.1300G>A (p.Ala434Thr)
c.1309G>A (p.Ala437Thr)
c.1453G>A (p.Ala485Thr)
c.*1162G>A (n.*1162G>A)
c.1435G>A (p.Ala479Thr)
c.1495G>A (p.Ala499Thr)
n.1371G>A
c.1417G>A (p.Ala473Thr)
c.1687G>A (p.Ala563Thr)
c.1696G>A (p.Ala566Thr)
c.1042G>A (p.Ala348Thr)
c.1486G>A (p.Ala496Thr)
 gnomAD v4
9g.135769988G>CCA375505920KCNT1c.1552G>C (p.Ala518Pro)
c.1393G>C (p.Ala465Pro)
c.1300G>C (p.Ala434Pro)
c.1309G>C (p.Ala437Pro)
c.1453G>C (p.Ala485Pro)
c.*1162G>C (n.*1162G>C)
c.1435G>C (p.Ala479Pro)
c.1495G>C (p.Ala499Pro)
n.1371G>C
c.1417G>C (p.Ala473Pro)
c.1687G>C (p.Ala563Pro)
c.1696G>C (p.Ala566Pro)
c.1042G>C (p.Ala348Pro)
c.1486G>C (p.Ala496Pro)
9g.135769988G>TCA375505921KCNT1c.1552G>T (p.Ala518Ser)
c.1393G>T (p.Ala465Ser)
c.1300G>T (p.Ala434Ser)
c.1309G>T (p.Ala437Ser)
c.1453G>T (p.Ala485Ser)
c.*1162G>T (n.*1162G>T)
c.1435G>T (p.Ala479Ser)
c.1495G>T (p.Ala499Ser)
n.1371G>T
c.1417G>T (p.Ala473Ser)
c.1687G>T (p.Ala563Ser)
c.1696G>T (p.Ala566Ser)
c.1042G>T (p.Ala348Ser)
c.1486G>T (p.Ala496Ser)
 gnomAD v4
9g.135769989C>ACA201472683KCNT1c.1553C>A (p.Ala518Glu)
c.1394C>A (p.Ala465Glu)
c.1301C>A (p.Ala434Glu)
c.1310C>A (p.Ala437Glu)
c.1454C>A (p.Ala485Glu)
c.*1163C>A (n.*1163C>A)
c.1436C>A (p.Ala479Glu)
c.1496C>A (p.Ala499Glu)
n.1372C>A
c.1418C>A (p.Ala473Glu)
c.1688C>A (p.Ala563Glu)
c.1697C>A (p.Ala566Glu)
c.1043C>A (p.Ala348Glu)
c.1487C>A (p.Ala496Glu)
 dbSNP gnomAD v4
9g.135769989C=CA1883872478KCNT1c.1553C= (p.Ala518=)
c.1394C= (p.Ala465=)
c.1301C= (p.Ala434=)
c.1310C= (p.Ala437=)
c.1454C= (p.Ala485=)
c.*1163C= (n.*1163C=)
c.1436C= (p.Ala479=)
c.1496C= (p.Ala499=)
n.1372C=
c.1418C= (p.Ala473=)
c.1688C= (p.Ala563=)
c.1697C= (p.Ala566=)
c.1043C= (p.Ala348=)
c.1487C= (p.Ala496=)
9g.135769989C>GCA375505922KCNT1c.1553C>G (p.Ala518Gly)
c.1394C>G (p.Ala465Gly)
c.1301C>G (p.Ala434Gly)
c.1310C>G (p.Ala437Gly)
c.1454C>G (p.Ala485Gly)
c.*1163C>G (n.*1163C>G)
c.1436C>G (p.Ala479Gly)
c.1496C>G (p.Ala499Gly)
n.1372C>G
c.1418C>G (p.Ala473Gly)
c.1688C>G (p.Ala563Gly)
c.1697C>G (p.Ala566Gly)
c.1043C>G (p.Ala348Gly)
c.1487C>G (p.Ala496Gly)
9g.135769989C>TCA5326963KCNT1c.1553C>T (p.Ala518Val)
c.1394C>T (p.Ala465Val)
c.1301C>T (p.Ala434Val)
c.1310C>T (p.Ala437Val)
c.1454C>T (p.Ala485Val)
c.*1163C>T (n.*1163C>T)
c.1436C>T (p.Ala479Val)
c.1496C>T (p.Ala499Val)
n.1372C>T
c.1418C>T (p.Ala473Val)
c.1688C>T (p.Ala563Val)
c.1697C>T (p.Ala566Val)
c.1043C>T (p.Ala348Val)
c.1487C>T (p.Ala496Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135769990G>ACA5326964KCNT1c.1554G>A (p.Ala518=)
c.1395G>A (p.Ala465=)
c.1302G>A (p.Ala434=)
c.1311G>A (p.Ala437=)
c.1455G>A (p.Ala485=)
c.*1164G>A (n.*1164G>A)
c.1437G>A (p.Ala479=)
c.1497G>A (p.Ala499=)
n.1373G>A
c.1419G>A (p.Ala473=)
c.1689G>A (p.Ala563=)
c.1698G>A (p.Ala566=)
c.1044G>A (p.Ala348=)
c.1488G>A (p.Ala496=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135769990G>CCA467698392KCNT1c.1554G>C (p.Ala518=)
c.1395G>C (p.Ala465=)
c.1302G>C (p.Ala434=)
c.1311G>C (p.Ala437=)
c.1455G>C (p.Ala485=)
c.*1164G>C (n.*1164G>C)
c.1437G>C (p.Ala479=)
c.1497G>C (p.Ala499=)
n.1373G>C
c.1419G>C (p.Ala473=)
c.1689G>C (p.Ala563=)
c.1698G>C (p.Ala566=)
c.1044G>C (p.Ala348=)
c.1488G>C (p.Ala496=)
9g.135769990G=CA1883872484KCNT1c.1554G= (p.Ala518=)
c.1395G= (p.Ala465=)
c.1302G= (p.Ala434=)
c.1311G= (p.Ala437=)
c.1455G= (p.Ala485=)
c.*1164G= (n.*1164G=)
c.1437G= (p.Ala479=)
c.1497G= (p.Ala499=)
n.1373G=
c.1419G= (p.Ala473=)
c.1689G= (p.Ala563=)
c.1698G= (p.Ala566=)
c.1044G= (p.Ala348=)
c.1488G= (p.Ala496=)
9g.135769990G>TCA467698393KCNT1c.1554G>T (p.Ala518=)
c.1395G>T (p.Ala465=)
c.1302G>T (p.Ala434=)
c.1311G>T (p.Ala437=)
c.1455G>T (p.Ala485=)
c.*1164G>T (n.*1164G>T)
c.1437G>T (p.Ala479=)
c.1497G>T (p.Ala499=)
n.1373G>T
c.1419G>T (p.Ala473=)
c.1689G>T (p.Ala563=)
c.1698G>T (p.Ala566=)
c.1044G>T (p.Ala348=)
c.1488G>T (p.Ala496=)
 gnomAD v4
9g.135769991C>ACA375505923KCNT1c.1555C>A (p.Leu519Met)
c.1396C>A (p.Leu466Met)
c.1303C>A (p.Leu435Met)
c.1312C>A (p.Leu438Met)
c.1456C>A (p.Leu486Met)
c.*1165C>A (n.*1165C>A)
c.1438C>A (p.Leu480Met)
c.1498C>A (p.Leu500Met)
n.1374C>A
c.1420C>A (p.Leu474Met)
c.1690C>A (p.Leu564Met)
c.1699C>A (p.Leu567Met)
c.1045C>A (p.Leu349Met)
c.1489C>A (p.Leu497Met)
 gnomAD v4
9g.135769991C>GCA375505924KCNT1c.1555C>G (p.Leu519Val)
c.1396C>G (p.Leu466Val)
c.1303C>G (p.Leu435Val)
c.1312C>G (p.Leu438Val)
c.1456C>G (p.Leu486Val)
c.*1165C>G (n.*1165C>G)
c.1438C>G (p.Leu480Val)
c.1498C>G (p.Leu500Val)
n.1374C>G
c.1420C>G (p.Leu474Val)
c.1690C>G (p.Leu564Val)
c.1699C>G (p.Leu567Val)
c.1045C>G (p.Leu349Val)
c.1489C>G (p.Leu497Val)
9g.135769991C>TCA467698394KCNT1c.1555C>T (p.Leu519=)
c.1396C>T (p.Leu466=)
c.1303C>T (p.Leu435=)
c.1312C>T (p.Leu438=)
c.1456C>T (p.Leu486=)
c.*1165C>T (n.*1165C>T)
c.1438C>T (p.Leu480=)
c.1498C>T (p.Leu500=)
n.1374C>T
c.1420C>T (p.Leu474=)
c.1690C>T (p.Leu564=)
c.1699C>T (p.Leu567=)
c.1045C>T (p.Leu349=)
c.1489C>T (p.Leu497=)
 gnomAD v4
9g.135769992T>ACA375505925KCNT1c.1556T>A (p.Leu519Gln)
c.1397T>A (p.Leu466Gln)
c.1304T>A (p.Leu435Gln)
c.1313T>A (p.Leu438Gln)
c.1457T>A (p.Leu486Gln)
c.*1166T>A (n.*1166T>A)
c.1439T>A (p.Leu480Gln)
c.1499T>A (p.Leu500Gln)
n.1375T>A
c.1421T>A (p.Leu474Gln)
c.1691T>A (p.Leu564Gln)
c.1700T>A (p.Leu567Gln)
c.1046T>A (p.Leu349Gln)
c.1490T>A (p.Leu497Gln)
9g.135769992T>CCA375505926KCNT1c.1556T>C (p.Leu519Pro)
c.1397T>C (p.Leu466Pro)
c.1304T>C (p.Leu435Pro)
c.1313T>C (p.Leu438Pro)
c.1457T>C (p.Leu486Pro)
c.*1166T>C (n.*1166T>C)
c.1439T>C (p.Leu480Pro)
c.1499T>C (p.Leu500Pro)
n.1375T>C
c.1421T>C (p.Leu474Pro)
c.1691T>C (p.Leu564Pro)
c.1700T>C (p.Leu567Pro)
c.1046T>C (p.Leu349Pro)
c.1490T>C (p.Leu497Pro)
 gnomAD v4
9g.135769992T>GCA375505927KCNT1c.1556T>G (p.Leu519Arg)
c.1397T>G (p.Leu466Arg)
c.1304T>G (p.Leu435Arg)
c.1313T>G (p.Leu438Arg)
c.1457T>G (p.Leu486Arg)
c.*1166T>G (n.*1166T>G)
c.1439T>G (p.Leu480Arg)
c.1499T>G (p.Leu500Arg)
n.1375T>G
c.1421T>G (p.Leu474Arg)
c.1691T>G (p.Leu564Arg)
c.1700T>G (p.Leu567Arg)
c.1046T>G (p.Leu349Arg)
c.1490T>G (p.Leu497Arg)
9g.135769993G>ACA467698395KCNT1c.1557G>A (p.Leu519=)
c.1398G>A (p.Leu466=)
c.1305G>A (p.Leu435=)
c.1314G>A (p.Leu438=)
c.1458G>A (p.Leu486=)
c.*1167G>A (n.*1167G>A)
c.1440G>A (p.Leu480=)
c.1500G>A (p.Leu500=)
n.1376G>A
c.1422G>A (p.Leu474=)
c.1692G>A (p.Leu564=)
c.1701G>A (p.Leu567=)
c.1047G>A (p.Leu349=)
c.1491G>A (p.Leu497=)
 gnomAD v4
9g.135769993G>CCA467698396KCNT1c.1557G>C (p.Leu519=)
c.1398G>C (p.Leu466=)
c.1305G>C (p.Leu435=)
c.1314G>C (p.Leu438=)
c.1458G>C (p.Leu486=)
c.*1167G>C (n.*1167G>C)
c.1440G>C (p.Leu480=)
c.1500G>C (p.Leu500=)
n.1376G>C
c.1422G>C (p.Leu474=)
c.1692G>C (p.Leu564=)
c.1701G>C (p.Leu567=)
c.1047G>C (p.Leu349=)
c.1491G>C (p.Leu497=)
 gnomAD v4
9g.135769993G>TCA467698397KCNT1c.1557G>T (p.Leu519=)
c.1398G>T (p.Leu466=)
c.1305G>T (p.Leu435=)
c.1314G>T (p.Leu438=)
c.1458G>T (p.Leu486=)
c.*1167G>T (n.*1167G>T)
c.1440G>T (p.Leu480=)
c.1500G>T (p.Leu500=)
n.1376G>T
c.1422G>T (p.Leu474=)
c.1692G>T (p.Leu564=)
c.1701G>T (p.Leu567=)
c.1047G>T (p.Leu349=)
c.1491G>T (p.Leu497=)
 gnomAD v4
9g.135769994A>CCA375505928KCNT1c.1558A>C (p.Asn520His)
c.1399A>C (p.Asn467His)
c.1306A>C (p.Asn436His)
c.1315A>C (p.Asn439His)
c.1459A>C (p.Asn487His)
c.*1168A>C (n.*1168A>C)
c.1441A>C (p.Asn481His)
c.1501A>C (p.Asn501His)
n.1377A>C
c.1423A>C (p.Asn475His)
c.1693A>C (p.Asn565His)
c.1702A>C (p.Asn568His)
c.1048A>C (p.Asn350His)
c.1492A>C (p.Asn498His)
9g.135769994A>GCA375505929KCNT1c.1558A>G (p.Asn520Asp)
c.1399A>G (p.Asn467Asp)
c.1306A>G (p.Asn436Asp)
c.1315A>G (p.Asn439Asp)
c.1459A>G (p.Asn487Asp)
c.*1168A>G (n.*1168A>G)
c.1441A>G (p.Asn481Asp)
c.1501A>G (p.Asn501Asp)
n.1377A>G
c.1423A>G (p.Asn475Asp)
c.1693A>G (p.Asn565Asp)
c.1702A>G (p.Asn568Asp)
c.1048A>G (p.Asn350Asp)
c.1492A>G (p.Asn498Asp)
9g.135769994A>TCA375505930KCNT1c.1558A>T (p.Asn520Tyr)
c.1399A>T (p.Asn467Tyr)
c.1306A>T (p.Asn436Tyr)
c.1315A>T (p.Asn439Tyr)
c.1459A>T (p.Asn487Tyr)
c.*1168A>T (n.*1168A>T)
c.1441A>T (p.Asn481Tyr)
c.1501A>T (p.Asn501Tyr)
n.1377A>T
c.1423A>T (p.Asn475Tyr)
c.1693A>T (p.Asn565Tyr)
c.1702A>T (p.Asn568Tyr)
c.1048A>T (p.Asn350Tyr)
c.1492A>T (p.Asn498Tyr)
9g.135769995A>CCA375505931KCNT1c.1559A>C (p.Asn520Thr)
c.1400A>C (p.Asn467Thr)
c.1307A>C (p.Asn436Thr)
c.1316A>C (p.Asn439Thr)
c.1460A>C (p.Asn487Thr)
c.*1169A>C (n.*1169A>C)
c.1442A>C (p.Asn481Thr)
c.1502A>C (p.Asn501Thr)
n.1378A>C
c.1424A>C (p.Asn475Thr)
c.1694A>C (p.Asn565Thr)
c.1703A>C (p.Asn568Thr)
c.1049A>C (p.Asn350Thr)
c.1493A>C (p.Asn498Thr)
9g.135769995A>GCA375505932KCNT1c.1559A>G (p.Asn520Ser)
c.1400A>G (p.Asn467Ser)
c.1307A>G (p.Asn436Ser)
c.1316A>G (p.Asn439Ser)
c.1460A>G (p.Asn487Ser)
c.*1169A>G (n.*1169A>G)
c.1442A>G (p.Asn481Ser)
c.1502A>G (p.Asn501Ser)
n.1378A>G
c.1424A>G (p.Asn475Ser)
c.1694A>G (p.Asn565Ser)
c.1703A>G (p.Asn568Ser)
c.1049A>G (p.Asn350Ser)
c.1493A>G (p.Asn498Ser)
9g.135769995A>TCA375505933KCNT1c.1559A>T (p.Asn520Ile)
c.1400A>T (p.Asn467Ile)
c.1307A>T (p.Asn436Ile)
c.1316A>T (p.Asn439Ile)
c.1460A>T (p.Asn487Ile)
c.*1169A>T (n.*1169A>T)
c.1442A>T (p.Asn481Ile)
c.1502A>T (p.Asn501Ile)
n.1378A>T
c.1424A>T (p.Asn475Ile)
c.1694A>T (p.Asn565Ile)
c.1703A>T (p.Asn568Ile)
c.1049A>T (p.Asn350Ile)
c.1493A>T (p.Asn498Ile)
9g.135769996C>ACA375505934KCNT1c.1560C>A (p.Asn520Lys)
c.1401C>A (p.Asn467Lys)
c.1308C>A (p.Asn436Lys)
c.1317C>A (p.Asn439Lys)
c.1461C>A (p.Asn487Lys)
c.*1170C>A (n.*1170C>A)
c.1443C>A (p.Asn481Lys)
c.1503C>A (p.Asn501Lys)
n.1379C>A
c.1425C>A (p.Asn475Lys)
c.1695C>A (p.Asn565Lys)
c.1704C>A (p.Asn568Lys)
c.1050C>A (p.Asn350Lys)
c.1494C>A (p.Asn498Lys)
 gnomAD v4
9g.135769996C>GCA375505935KCNT1c.1560C>G (p.Asn520Lys)
c.1401C>G (p.Asn467Lys)
c.1308C>G (p.Asn436Lys)
c.1317C>G (p.Asn439Lys)
c.1461C>G (p.Asn487Lys)
c.*1170C>G (n.*1170C>G)
c.1443C>G (p.Asn481Lys)
c.1503C>G (p.Asn501Lys)
n.1379C>G
c.1425C>G (p.Asn475Lys)
c.1695C>G (p.Asn565Lys)
c.1704C>G (p.Asn568Lys)
c.1050C>G (p.Asn350Lys)
c.1494C>G (p.Asn498Lys)
 gnomAD v4
9g.135769996C>TCA467698398KCNT1c.1560C>T (p.Asn520=)
c.1401C>T (p.Asn467=)
c.1308C>T (p.Asn436=)
c.1317C>T (p.Asn439=)
c.1461C>T (p.Asn487=)
c.*1170C>T (n.*1170C>T)
c.1443C>T (p.Asn481=)
c.1503C>T (p.Asn501=)
n.1379C>T
c.1425C>T (p.Asn475=)
c.1695C>T (p.Asn565=)
c.1704C>T (p.Asn568=)
c.1050C>T (p.Asn350=)
c.1494C>T (p.Asn498=)
 gnomAD v4
9g.135769997T>ACA375505936KCNT1c.1561T>A (p.Cys521Ser)
c.1402T>A (p.Cys468Ser)
c.1309T>A (p.Cys437Ser)
c.1318T>A (p.Cys440Ser)
c.1462T>A (p.Cys488Ser)
c.*1171T>A (n.*1171T>A)
c.1444T>A (p.Cys482Ser)
c.1504T>A (p.Cys502Ser)
n.1380T>A
c.1426T>A (p.Cys476Ser)
c.1696T>A (p.Cys566Ser)
c.1705T>A (p.Cys569Ser)
c.1051T>A (p.Cys351Ser)
c.1495T>A (p.Cys499Ser)
9g.135769997T>CCA375505937KCNT1c.1561T>C (p.Cys521Arg)
c.1402T>C (p.Cys468Arg)
c.1309T>C (p.Cys437Arg)
c.1318T>C (p.Cys440Arg)
c.1462T>C (p.Cys488Arg)
c.*1171T>C (n.*1171T>C)
c.1444T>C (p.Cys482Arg)
c.1504T>C (p.Cys502Arg)
n.1380T>C
c.1426T>C (p.Cys476Arg)
c.1696T>C (p.Cys566Arg)
c.1705T>C (p.Cys569Arg)
c.1051T>C (p.Cys351Arg)
c.1495T>C (p.Cys499Arg)
 gnomAD v4
9g.135769997T>GCA375505938KCNT1c.1561T>G (p.Cys521Gly)
c.1402T>G (p.Cys468Gly)
c.1309T>G (p.Cys437Gly)
c.1318T>G (p.Cys440Gly)
c.1462T>G (p.Cys488Gly)
c.*1171T>G (n.*1171T>G)
c.1444T>G (p.Cys482Gly)
c.1504T>G (p.Cys502Gly)
n.1380T>G
c.1426T>G (p.Cys476Gly)
c.1696T>G (p.Cys566Gly)
c.1705T>G (p.Cys569Gly)
c.1051T>G (p.Cys351Gly)
c.1495T>G (p.Cys499Gly)
9g.135769998G>ACA375505939KCNT1c.1562G>A (p.Cys521Tyr)
c.1403G>A (p.Cys468Tyr)
c.1310G>A (p.Cys437Tyr)
c.1319G>A (p.Cys440Tyr)
c.1463G>A (p.Cys488Tyr)
c.*1172G>A (n.*1172G>A)
c.1445G>A (p.Cys482Tyr)
c.1505G>A (p.Cys502Tyr)
n.1381G>A
c.1427G>A (p.Cys476Tyr)
c.1697G>A (p.Cys566Tyr)
c.1706G>A (p.Cys569Tyr)
c.1052G>A (p.Cys351Tyr)
c.1496G>A (p.Cys499Tyr)
 gnomAD v4
9g.135769998G>CCA375505940KCNT1c.1562G>C (p.Cys521Ser)
c.1403G>C (p.Cys468Ser)
c.1310G>C (p.Cys437Ser)
c.1319G>C (p.Cys440Ser)
c.1463G>C (p.Cys488Ser)
c.*1172G>C (n.*1172G>C)
c.1445G>C (p.Cys482Ser)
c.1505G>C (p.Cys502Ser)
n.1381G>C
c.1427G>C (p.Cys476Ser)
c.1697G>C (p.Cys566Ser)
c.1706G>C (p.Cys569Ser)
c.1052G>C (p.Cys351Ser)
c.1496G>C (p.Cys499Ser)
9g.135769998G>TCA375505941KCNT1c.1562G>T (p.Cys521Phe)
c.1403G>T (p.Cys468Phe)
c.1310G>T (p.Cys437Phe)
c.1319G>T (p.Cys440Phe)
c.1463G>T (p.Cys488Phe)
c.*1172G>T (n.*1172G>T)
c.1445G>T (p.Cys482Phe)
c.1505G>T (p.Cys502Phe)
n.1381G>T
c.1427G>T (p.Cys476Phe)
c.1697G>T (p.Cys566Phe)
c.1706G>T (p.Cys569Phe)
c.1052G>T (p.Cys351Phe)
c.1496G>T (p.Cys499Phe)
 gnomAD v4
9g.135769999C>ACA375505943KCNT1c.1563C>A (p.Cys521Ter)
c.1404C>A (p.Cys468Ter)
c.1311C>A (p.Cys437Ter)
c.1320C>A (p.Cys440Ter)
c.1464C>A (p.Cys488Ter)
c.*1173C>A (n.*1173C>A)
c.1446C>A (p.Cys482Ter)
c.1506C>A (p.Cys502Ter)
n.1382C>A
c.1428C>A (p.Cys476Ter)
c.1698C>A (p.Cys566Ter)
c.1707C>A (p.Cys569Ter)
c.1053C>A (p.Cys351Ter)
c.1497C>A (p.Cys499Ter)
 gnomAD v4
9g.135769999C=CA1883872492KCNT1c.1563C= (p.Cys521=)
c.1404C= (p.Cys468=)
c.1311C= (p.Cys437=)
c.1320C= (p.Cys440=)
c.1464C= (p.Cys488=)
c.*1173C= (n.*1173C=)
c.1446C= (p.Cys482=)
c.1506C= (p.Cys502=)
n.1382C=
c.1428C= (p.Cys476=)
c.1698C= (p.Cys566=)
c.1707C= (p.Cys569=)
c.1053C= (p.Cys351=)
c.1497C= (p.Cys499=)
9g.135769999C>GCA375505942KCNT1c.1563C>G (p.Cys521Trp)
c.1404C>G (p.Cys468Trp)
c.1311C>G (p.Cys437Trp)
c.1320C>G (p.Cys440Trp)
c.1464C>G (p.Cys488Trp)
c.*1173C>G (n.*1173C>G)
c.1446C>G (p.Cys482Trp)
c.1506C>G (p.Cys502Trp)
n.1382C>G
c.1428C>G (p.Cys476Trp)
c.1698C>G (p.Cys566Trp)
c.1707C>G (p.Cys569Trp)
c.1053C>G (p.Cys351Trp)
c.1497C>G (p.Cys499Trp)
9g.135769999C>TCA5326965KCNT1c.1563C>T (p.Cys521=)
c.1404C>T (p.Cys468=)
c.1311C>T (p.Cys437=)
c.1320C>T (p.Cys440=)
c.1464C>T (p.Cys488=)
c.*1173C>T (n.*1173C>T)
c.1446C>T (p.Cys482=)
c.1506C>T (p.Cys502=)
n.1382C>T
c.1428C>T (p.Cys476=)
c.1698C>T (p.Cys566=)
c.1707C>T (p.Cys569=)
c.1053C>T (p.Cys351=)
c.1497C>T (p.Cys499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770000A>CCA375505944KCNT1c.1564A>C (p.Ile522Leu)
c.1405A>C (p.Ile469Leu)
c.1312A>C (p.Ile438Leu)
c.1321A>C (p.Ile441Leu)
c.1465A>C (p.Ile489Leu)
c.*1174A>C (n.*1174A>C)
c.1447A>C (p.Ile483Leu)
c.1507A>C (p.Ile503Leu)
n.1383A>C
c.1429A>C (p.Ile477Leu)
c.1699A>C (p.Ile567Leu)
c.1708A>C (p.Ile570Leu)
c.1054A>C (p.Ile352Leu)
c.1498A>C (p.Ile500Leu)
9g.135770000A>GCA375505945KCNT1c.1564A>G (p.Ile522Val)
c.1405A>G (p.Ile469Val)
c.1312A>G (p.Ile438Val)
c.1321A>G (p.Ile441Val)
c.1465A>G (p.Ile489Val)
c.*1174A>G (n.*1174A>G)
c.1447A>G (p.Ile483Val)
c.1507A>G (p.Ile503Val)
n.1383A>G
c.1429A>G (p.Ile477Val)
c.1699A>G (p.Ile567Val)
c.1708A>G (p.Ile570Val)
c.1054A>G (p.Ile352Val)
c.1498A>G (p.Ile500Val)
 gnomAD v4
9g.135770000A>TCA375505946KCNT1c.1564A>T (p.Ile522Phe)
c.1405A>T (p.Ile469Phe)
c.1312A>T (p.Ile438Phe)
c.1321A>T (p.Ile441Phe)
c.1465A>T (p.Ile489Phe)
c.*1174A>T (n.*1174A>T)
c.1447A>T (p.Ile483Phe)
c.1507A>T (p.Ile503Phe)
n.1383A>T
c.1429A>T (p.Ile477Phe)
c.1699A>T (p.Ile567Phe)
c.1708A>T (p.Ile570Phe)
c.1054A>T (p.Ile352Phe)
c.1498A>T (p.Ile500Phe)
9g.135770001T>ACA375505947KCNT1c.1565T>A (p.Ile522Asn)
c.1406T>A (p.Ile469Asn)
c.1313T>A (p.Ile438Asn)
c.1322T>A (p.Ile441Asn)
c.1466T>A (p.Ile489Asn)
c.*1175T>A (n.*1175T>A)
c.1448T>A (p.Ile483Asn)
c.1508T>A (p.Ile503Asn)
n.1384T>A
c.1430T>A (p.Ile477Asn)
c.1700T>A (p.Ile567Asn)
c.1709T>A (p.Ile570Asn)
c.1055T>A (p.Ile352Asn)
c.1499T>A (p.Ile500Asn)
9g.135770001T>CCA375505948KCNT1c.1565T>C (p.Ile522Thr)
c.1406T>C (p.Ile469Thr)
c.1313T>C (p.Ile438Thr)
c.1322T>C (p.Ile441Thr)
c.1466T>C (p.Ile489Thr)
c.*1175T>C (n.*1175T>C)
c.1448T>C (p.Ile483Thr)
c.1508T>C (p.Ile503Thr)
n.1384T>C
c.1430T>C (p.Ile477Thr)
c.1700T>C (p.Ile567Thr)
c.1709T>C (p.Ile570Thr)
c.1055T>C (p.Ile352Thr)
c.1499T>C (p.Ile500Thr)
9g.135770001T>GCA375505949KCNT1c.1565T>G (p.Ile522Ser)
c.1406T>G (p.Ile469Ser)
c.1313T>G (p.Ile438Ser)
c.1322T>G (p.Ile441Ser)
c.1466T>G (p.Ile489Ser)
c.*1175T>G (n.*1175T>G)
c.1448T>G (p.Ile483Ser)
c.1508T>G (p.Ile503Ser)
n.1384T>G
c.1430T>G (p.Ile477Ser)
c.1700T>G (p.Ile567Ser)
c.1709T>G (p.Ile570Ser)
c.1055T>G (p.Ile352Ser)
c.1499T>G (p.Ile500Ser)
9g.135770002C>ACA467698400KCNT1c.1566C>A (p.Ile522=)
c.1407C>A (p.Ile469=)
c.1314C>A (p.Ile438=)
c.1323C>A (p.Ile441=)
c.1467C>A (p.Ile489=)
c.*1176C>A (n.*1176C>A)
c.1449C>A (p.Ile483=)
c.1509C>A (p.Ile503=)
n.1385C>A
c.1431C>A (p.Ile477=)
c.1701C>A (p.Ile567=)
c.1710C>A (p.Ile570=)
c.1056C>A (p.Ile352=)
c.1500C>A (p.Ile500=)
 gnomAD v4
9g.135770002C=CA1883872501KCNT1c.1566C= (p.Ile522=)
c.1407C= (p.Ile469=)
c.1314C= (p.Ile438=)
c.1323C= (p.Ile441=)
c.1467C= (p.Ile489=)
c.*1176C= (n.*1176C=)
c.1449C= (p.Ile483=)
c.1509C= (p.Ile503=)
n.1385C=
c.1431C= (p.Ile477=)
c.1701C= (p.Ile567=)
c.1710C= (p.Ile570=)
c.1056C= (p.Ile352=)
c.1500C= (p.Ile500=)
9g.135770002C>GCA375505950KCNT1c.1566C>G (p.Ile522Met)
c.1407C>G (p.Ile469Met)
c.1314C>G (p.Ile438Met)
c.1323C>G (p.Ile441Met)
c.1467C>G (p.Ile489Met)
c.*1176C>G (n.*1176C>G)
c.1449C>G (p.Ile483Met)
c.1509C>G (p.Ile503Met)
n.1385C>G
c.1431C>G (p.Ile477Met)
c.1701C>G (p.Ile567Met)
c.1710C>G (p.Ile570Met)
c.1056C>G (p.Ile352Met)
c.1500C>G (p.Ile500Met)
9g.135770002C>TCA467698399KCNT1c.1566C>T (p.Ile522=)
c.1407C>T (p.Ile469=)
c.1314C>T (p.Ile438=)
c.1323C>T (p.Ile441=)
c.1467C>T (p.Ile489=)
c.*1176C>T (n.*1176C>T)
c.1449C>T (p.Ile483=)
c.1509C>T (p.Ile503=)
n.1385C>T
c.1431C>T (p.Ile477=)
c.1701C>T (p.Ile567=)
c.1710C>T (p.Ile570=)
c.1056C>T (p.Ile352=)
c.1500C>T (p.Ile500=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135770003T>ACA375505951KCNT1c.1567T>A (p.Cys523Ser)
c.1408T>A (p.Cys470Ser)
c.1315T>A (p.Cys439Ser)
c.1324T>A (p.Cys442Ser)
c.1468T>A (p.Cys490Ser)
c.*1177T>A (n.*1177T>A)
c.1450T>A (p.Cys484Ser)
c.1510T>A (p.Cys504Ser)
n.1386T>A
c.1432T>A (p.Cys478Ser)
c.1702T>A (p.Cys568Ser)
c.1711T>A (p.Cys571Ser)
c.1057T>A (p.Cys353Ser)
c.1501T>A (p.Cys501Ser)
9g.135770003T>CCA375505953KCNT1c.1567T>C (p.Cys523Arg)
c.1408T>C (p.Cys470Arg)
c.1315T>C (p.Cys439Arg)
c.1324T>C (p.Cys442Arg)
c.1468T>C (p.Cys490Arg)
c.*1177T>C (n.*1177T>C)
c.1450T>C (p.Cys484Arg)
c.1510T>C (p.Cys504Arg)
n.1386T>C
c.1432T>C (p.Cys478Arg)
c.1702T>C (p.Cys568Arg)
c.1711T>C (p.Cys571Arg)
c.1057T>C (p.Cys353Arg)
c.1501T>C (p.Cys501Arg)
 gnomAD v4
9g.135770003T>GCA375505952KCNT1c.1567T>G (p.Cys523Gly)
c.1408T>G (p.Cys470Gly)
c.1315T>G (p.Cys439Gly)
c.1324T>G (p.Cys442Gly)
c.1468T>G (p.Cys490Gly)
c.*1177T>G (n.*1177T>G)
c.1450T>G (p.Cys484Gly)
c.1510T>G (p.Cys504Gly)
n.1386T>G
c.1432T>G (p.Cys478Gly)
c.1702T>G (p.Cys568Gly)
c.1711T>G (p.Cys571Gly)
c.1057T>G (p.Cys353Gly)
c.1501T>G (p.Cys501Gly)
 gnomAD v4
9g.135770003T=CA1883872504KCNT1c.1567T= (p.Cys523=)
c.1408T= (p.Cys470=)
c.1315T= (p.Cys439=)
c.1324T= (p.Cys442=)
c.1468T= (p.Cys490=)
c.*1177T= (n.*1177T=)
c.1450T= (p.Cys484=)
c.1510T= (p.Cys504=)
n.1386T=
c.1432T= (p.Cys478=)
c.1702T= (p.Cys568=)
c.1711T= (p.Cys571=)
c.1057T= (p.Cys353=)
c.1501T= (p.Cys501=)
9g.135770004G>ACA375505954KCNT1c.1568G>A (p.Cys523Tyr)
c.1409G>A (p.Cys470Tyr)
c.1316G>A (p.Cys439Tyr)
c.1325G>A (p.Cys442Tyr)
c.1469G>A (p.Cys490Tyr)
c.*1178G>A (n.*1178G>A)
c.1451G>A (p.Cys484Tyr)
c.1511G>A (p.Cys504Tyr)
n.1387G>A
c.1433G>A (p.Cys478Tyr)
c.1703G>A (p.Cys568Tyr)
c.1712G>A (p.Cys571Tyr)
c.1058G>A (p.Cys353Tyr)
c.1502G>A (p.Cys501Tyr)
 gnomAD v4
9g.135770004G>CCA375505955KCNT1c.1568G>C (p.Cys523Ser)
c.1409G>C (p.Cys470Ser)
c.1316G>C (p.Cys439Ser)
c.1325G>C (p.Cys442Ser)
c.1469G>C (p.Cys490Ser)
c.*1178G>C (n.*1178G>C)
c.1451G>C (p.Cys484Ser)
c.1511G>C (p.Cys504Ser)
n.1387G>C
c.1433G>C (p.Cys478Ser)
c.1703G>C (p.Cys568Ser)
c.1712G>C (p.Cys571Ser)
c.1058G>C (p.Cys353Ser)
c.1502G>C (p.Cys501Ser)
9g.135770004G>TCA375505956KCNT1c.1568G>T (p.Cys523Phe)
c.1409G>T (p.Cys470Phe)
c.1316G>T (p.Cys439Phe)
c.1325G>T (p.Cys442Phe)
c.1469G>T (p.Cys490Phe)
c.*1178G>T (n.*1178G>T)
c.1451G>T (p.Cys484Phe)
c.1511G>T (p.Cys504Phe)
n.1387G>T
c.1433G>T (p.Cys478Phe)
c.1703G>T (p.Cys568Phe)
c.1712G>T (p.Cys571Phe)
c.1058G>T (p.Cys353Phe)
c.1502G>T (p.Cys501Phe)
 gnomAD v4
9g.135770004_135770021dupCA860988055KCNT1c.1568_1585dup (p.Thr528_Leu529insArgProAlaThrSerThr)
c.1409_1426dup (p.Thr475_Leu476insArgProAlaThrSerThr)
c.1316_1333dup (p.Thr444_Leu445insArgProAlaThrSerThr)
c.1325_1342dup (p.Thr447_Leu448insArgProAlaThrSerThr)
c.1469_1486dup (p.Thr495_Leu496insArgProAlaThrSerThr)
c.*1178_*1195dup (n.*1178_*1195dup)
c.1451_1468dup (p.Thr489_Leu490insArgProAlaThrSerThr)
c.1511_1528dup (p.Thr509_Leu510insArgProAlaThrSerThr)
n.1387_1404dup
c.1433_1450dup (p.Thr483_Leu484insArgProAlaThrSerThr)
c.1703_1720dup (p.Thr573_Leu574insArgProAlaThrSerThr)
c.1712_1729dup (p.Thr576_Leu577insArgProAlaThrSerThr)
c.1058_1075dup (p.Thr358_Leu359insArgProAlaThrSerThr)
c.1502_1519dup (p.Thr506_Leu507insArgProAlaThrSerThr)
 ClinVar dbSNP gnomAD v4
9g.135770005C>ACA375505957KCNT1c.1569C>A (p.Cys523Ter)
c.1410C>A (p.Cys470Ter)
c.1317C>A (p.Cys439Ter)
c.1326C>A (p.Cys442Ter)
c.1470C>A (p.Cys490Ter)
c.*1179C>A (n.*1179C>A)
c.1452C>A (p.Cys484Ter)
c.1512C>A (p.Cys504Ter)
n.1388C>A
c.1434C>A (p.Cys478Ter)
c.1704C>A (p.Cys568Ter)
c.1713C>A (p.Cys571Ter)
c.1059C>A (p.Cys353Ter)
c.1503C>A (p.Cys501Ter)
 gnomAD v4
9g.135770005C>GCA375505958KCNT1c.1569C>G (p.Cys523Trp)
c.1410C>G (p.Cys470Trp)
c.1317C>G (p.Cys439Trp)
c.1326C>G (p.Cys442Trp)
c.1470C>G (p.Cys490Trp)
c.*1179C>G (n.*1179C>G)
c.1452C>G (p.Cys484Trp)
c.1512C>G (p.Cys504Trp)
n.1388C>G
c.1434C>G (p.Cys478Trp)
c.1704C>G (p.Cys568Trp)
c.1713C>G (p.Cys571Trp)
c.1059C>G (p.Cys353Trp)
c.1503C>G (p.Cys501Trp)
9g.135770005C>TCA467698401KCNT1c.1569C>T (p.Cys523=)
c.1410C>T (p.Cys470=)
c.1317C>T (p.Cys439=)
c.1326C>T (p.Cys442=)
c.1470C>T (p.Cys490=)
c.*1179C>T (n.*1179C>T)
c.1452C>T (p.Cys484=)
c.1512C>T (p.Cys504=)
n.1388C>T
c.1434C>T (p.Cys478=)
c.1704C>T (p.Cys568=)
c.1713C>T (p.Cys571=)
c.1059C>T (p.Cys353=)
c.1503C>T (p.Cys501=)
 gnomAD v4
9g.135770006C>ACA375505959KCNT1c.1570C>A (p.Pro524Thr)
c.1411C>A (p.Pro471Thr)
c.1318C>A (p.Pro440Thr)
c.1327C>A (p.Pro443Thr)
c.1471C>A (p.Pro491Thr)
c.*1180C>A (n.*1180C>A)
c.1453C>A (p.Pro485Thr)
c.1513C>A (p.Pro505Thr)
n.1389C>A
c.1435C>A (p.Pro479Thr)
c.1705C>A (p.Pro569Thr)
c.1714C>A (p.Pro572Thr)
c.1060C>A (p.Pro354Thr)
c.1504C>A (p.Pro502Thr)
 gnomAD v4
9g.135770006C>GCA375505960KCNT1c.1570C>G (p.Pro524Ala)
c.1411C>G (p.Pro471Ala)
c.1318C>G (p.Pro440Ala)
c.1327C>G (p.Pro443Ala)
c.1471C>G (p.Pro491Ala)
c.*1180C>G (n.*1180C>G)
c.1453C>G (p.Pro485Ala)
c.1513C>G (p.Pro505Ala)
n.1389C>G
c.1435C>G (p.Pro479Ala)
c.1705C>G (p.Pro569Ala)
c.1714C>G (p.Pro572Ala)
c.1060C>G (p.Pro354Ala)
c.1504C>G (p.Pro502Ala)
9g.135770006C>TCA375505961KCNT1c.1570C>T (p.Pro524Ser)
c.1411C>T (p.Pro471Ser)
c.1318C>T (p.Pro440Ser)
c.1327C>T (p.Pro443Ser)
c.1471C>T (p.Pro491Ser)
c.*1180C>T (n.*1180C>T)
c.1453C>T (p.Pro485Ser)
c.1513C>T (p.Pro505Ser)
n.1389C>T
c.1435C>T (p.Pro479Ser)
c.1705C>T (p.Pro569Ser)
c.1714C>T (p.Pro572Ser)
c.1060C>T (p.Pro354Ser)
c.1504C>T (p.Pro502Ser)
 gnomAD v4
9g.135770007C>ACA375505962KCNT1c.1571C>A (p.Pro524Gln)
c.1412C>A (p.Pro471Gln)
c.1319C>A (p.Pro440Gln)
c.1328C>A (p.Pro443Gln)
c.1472C>A (p.Pro491Gln)
c.*1181C>A (n.*1181C>A)
c.1454C>A (p.Pro485Gln)
c.1514C>A (p.Pro505Gln)
n.1390C>A
c.1436C>A (p.Pro479Gln)
c.1706C>A (p.Pro569Gln)
c.1715C>A (p.Pro572Gln)
c.1061C>A (p.Pro354Gln)
c.1505C>A (p.Pro502Gln)
 gnomAD v4 COSMIC COSMIC
9g.135770007C=CA1883872514KCNT1c.1571C= (p.Pro524=)
c.1412C= (p.Pro471=)
c.1319C= (p.Pro440=)
c.1328C= (p.Pro443=)
c.1472C= (p.Pro491=)
c.*1181C= (n.*1181C=)
c.1454C= (p.Pro485=)
c.1514C= (p.Pro505=)
n.1390C=
c.1436C= (p.Pro479=)
c.1706C= (p.Pro569=)
c.1715C= (p.Pro572=)
c.1061C= (p.Pro354=)
c.1505C= (p.Pro502=)
9g.135770007C>GCA375505963KCNT1c.1571C>G (p.Pro524Arg)
c.1412C>G (p.Pro471Arg)
c.1319C>G (p.Pro440Arg)
c.1328C>G (p.Pro443Arg)
c.1472C>G (p.Pro491Arg)
c.*1181C>G (n.*1181C>G)
c.1454C>G (p.Pro485Arg)
c.1514C>G (p.Pro505Arg)
n.1390C>G
c.1436C>G (p.Pro479Arg)
c.1706C>G (p.Pro569Arg)
c.1715C>G (p.Pro572Arg)
c.1061C>G (p.Pro354Arg)
c.1505C>G (p.Pro502Arg)
 gnomAD v4
9g.135770007C>TCA375505964KCNT1c.1571C>T (p.Pro524Leu)
c.1412C>T (p.Pro471Leu)
c.1319C>T (p.Pro440Leu)
c.1328C>T (p.Pro443Leu)
c.1472C>T (p.Pro491Leu)
c.*1181C>T (n.*1181C>T)
c.1454C>T (p.Pro485Leu)
c.1514C>T (p.Pro505Leu)
n.1390C>T
c.1436C>T (p.Pro479Leu)
c.1706C>T (p.Pro569Leu)
c.1715C>T (p.Pro572Leu)
c.1061C>T (p.Pro354Leu)
c.1505C>T (p.Pro502Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135770008G>ACA5326966KCNT1c.1572G>A (p.Pro524=)
c.1413G>A (p.Pro471=)
c.1320G>A (p.Pro440=)
c.1329G>A (p.Pro443=)
c.1473G>A (p.Pro491=)
c.*1182G>A (n.*1182G>A)
c.1455G>A (p.Pro485=)
c.1515G>A (p.Pro505=)
n.1391G>A
c.1437G>A (p.Pro479=)
c.1707G>A (p.Pro569=)
c.1716G>A (p.Pro572=)
c.1062G>A (p.Pro354=)
c.1506G>A (p.Pro502=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135770008G>CCA467698402KCNT1c.1572G>C (p.Pro524=)
c.1413G>C (p.Pro471=)
c.1320G>C (p.Pro440=)
c.1329G>C (p.Pro443=)
c.1473G>C (p.Pro491=)
c.*1182G>C (n.*1182G>C)
c.1455G>C (p.Pro485=)
c.1515G>C (p.Pro505=)
n.1391G>C
c.1437G>C (p.Pro479=)
c.1707G>C (p.Pro569=)
c.1716G>C (p.Pro572=)
c.1062G>C (p.Pro354=)
c.1506G>C (p.Pro502=)
 gnomAD v4
9g.135770008G=CA1883872518KCNT1c.1572G= (p.Pro524=)
c.1413G= (p.Pro471=)
c.1320G= (p.Pro440=)
c.1329G= (p.Pro443=)
c.1473G= (p.Pro491=)
c.*1182G= (n.*1182G=)
c.1455G= (p.Pro485=)
c.1515G= (p.Pro505=)
n.1391G=
c.1437G= (p.Pro479=)
c.1707G= (p.Pro569=)
c.1716G= (p.Pro572=)
c.1062G= (p.Pro354=)
c.1506G= (p.Pro502=)
9g.135770008G>TCA467698403KCNT1c.1572G>T (p.Pro524=)
c.1413G>T (p.Pro471=)
c.1320G>T (p.Pro440=)
c.1329G>T (p.Pro443=)
c.1473G>T (p.Pro491=)
c.*1182G>T (n.*1182G>T)
c.1455G>T (p.Pro485=)
c.1515G>T (p.Pro505=)
n.1391G>T
c.1437G>T (p.Pro479=)
c.1707G>T (p.Pro569=)
c.1716G>T (p.Pro572=)
c.1062G>T (p.Pro354=)
c.1506G>T (p.Pro502=)
 gnomAD v4
9g.135770009G>ACA375505965KCNT1c.1573G>A (p.Ala525Thr)
c.1414G>A (p.Ala472Thr)
c.1321G>A (p.Ala441Thr)
c.1330G>A (p.Ala444Thr)
c.1474G>A (p.Ala492Thr)
c.*1183G>A (n.*1183G>A)
c.1456G>A (p.Ala486Thr)
c.1516G>A (p.Ala506Thr)
n.1392G>A
c.1438G>A (p.Ala480Thr)
c.1708G>A (p.Ala570Thr)
c.1717G>A (p.Ala573Thr)
c.1063G>A (p.Ala355Thr)
c.1507G>A (p.Ala503Thr)
 gnomAD v4
9g.135770009G>CCA375505967KCNT1c.1573G>C (p.Ala525Pro)
c.1414G>C (p.Ala472Pro)
c.1321G>C (p.Ala441Pro)
c.1330G>C (p.Ala444Pro)
c.1474G>C (p.Ala492Pro)
c.*1183G>C (n.*1183G>C)
c.1456G>C (p.Ala486Pro)
c.1516G>C (p.Ala506Pro)
n.1392G>C
c.1438G>C (p.Ala480Pro)
c.1708G>C (p.Ala570Pro)
c.1717G>C (p.Ala573Pro)
c.1063G>C (p.Ala355Pro)
c.1507G>C (p.Ala503Pro)
9g.135770009G>TCA375505966KCNT1c.1573G>T (p.Ala525Ser)
c.1414G>T (p.Ala472Ser)
c.1321G>T (p.Ala441Ser)
c.1330G>T (p.Ala444Ser)
c.1474G>T (p.Ala492Ser)
c.*1183G>T (n.*1183G>T)
c.1456G>T (p.Ala486Ser)
c.1516G>T (p.Ala506Ser)
n.1392G>T
c.1438G>T (p.Ala480Ser)
c.1708G>T (p.Ala570Ser)
c.1717G>T (p.Ala573Ser)
c.1063G>T (p.Ala355Ser)
c.1507G>T (p.Ala503Ser)
 gnomAD v4
9g.135770010C>ACA375505968KCNT1c.1574C>A (p.Ala525Glu)
c.1415C>A (p.Ala472Glu)
c.1322C>A (p.Ala441Glu)
c.1331C>A (p.Ala444Glu)
c.1475C>A (p.Ala492Glu)
c.*1184C>A (n.*1184C>A)
c.1457C>A (p.Ala486Glu)
c.1517C>A (p.Ala506Glu)
n.1393C>A
c.1439C>A (p.Ala480Glu)
c.1709C>A (p.Ala570Glu)
c.1718C>A (p.Ala573Glu)
c.1064C>A (p.Ala355Glu)
c.1508C>A (p.Ala503Glu)
 gnomAD v4
9g.135770010C=CA1883872528KCNT1c.1574C= (p.Ala525=)
c.1415C= (p.Ala472=)
c.1322C= (p.Ala441=)
c.1331C= (p.Ala444=)
c.1475C= (p.Ala492=)
c.*1184C= (n.*1184C=)
c.1457C= (p.Ala486=)
c.1517C= (p.Ala506=)
n.1393C=
c.1439C= (p.Ala480=)
c.1709C= (p.Ala570=)
c.1718C= (p.Ala573=)
c.1064C= (p.Ala355=)
c.1508C= (p.Ala503=)
9g.135770010C>GCA375505969KCNT1c.1574C>G (p.Ala525Gly)
c.1415C>G (p.Ala472Gly)
c.1322C>G (p.Ala441Gly)
c.1331C>G (p.Ala444Gly)
c.1475C>G (p.Ala492Gly)
c.*1184C>G (n.*1184C>G)
c.1457C>G (p.Ala486Gly)
c.1517C>G (p.Ala506Gly)
n.1393C>G
c.1439C>G (p.Ala480Gly)
c.1709C>G (p.Ala570Gly)
c.1718C>G (p.Ala573Gly)
c.1064C>G (p.Ala355Gly)
c.1508C>G (p.Ala503Gly)
 gnomAD v4
9g.135770010C>TCA5326967KCNT1c.1574C>T (p.Ala525Val)
c.1415C>T (p.Ala472Val)
c.1322C>T (p.Ala441Val)
c.1331C>T (p.Ala444Val)
c.1475C>T (p.Ala492Val)
c.*1184C>T (n.*1184C>T)
c.1457C>T (p.Ala486Val)
c.1517C>T (p.Ala506Val)
n.1393C>T
c.1439C>T (p.Ala480Val)
c.1709C>T (p.Ala570Val)
c.1718C>T (p.Ala573Val)
c.1064C>T (p.Ala355Val)
c.1508C>T (p.Ala503Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770011G>ACA5326968KCNT1c.1575G>A (p.Ala525=)
c.1416G>A (p.Ala472=)
c.1323G>A (p.Ala441=)
c.1332G>A (p.Ala444=)
c.1476G>A (p.Ala492=)
c.*1185G>A (n.*1185G>A)
c.1458G>A (p.Ala486=)
c.1518G>A (p.Ala506=)
n.1394G>A
c.1440G>A (p.Ala480=)
c.1710G>A (p.Ala570=)
c.1719G>A (p.Ala573=)
c.1065G>A (p.Ala355=)
c.1509G>A (p.Ala503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770011G>CCA467698404KCNT1c.1575G>C (p.Ala525=)
c.1416G>C (p.Ala472=)
c.1323G>C (p.Ala441=)
c.1332G>C (p.Ala444=)
c.1476G>C (p.Ala492=)
c.*1185G>C (n.*1185G>C)
c.1458G>C (p.Ala486=)
c.1518G>C (p.Ala506=)
n.1394G>C
c.1440G>C (p.Ala480=)
c.1710G>C (p.Ala570=)
c.1719G>C (p.Ala573=)
c.1065G>C (p.Ala355=)
c.1509G>C (p.Ala503=)
 gnomAD v4
9g.135770011G=CA1883872533KCNT1c.1575G= (p.Ala525=)
c.1416G= (p.Ala472=)
c.1323G= (p.Ala441=)
c.1332G= (p.Ala444=)
c.1476G= (p.Ala492=)
c.*1185G= (n.*1185G=)
c.1458G= (p.Ala486=)
c.1518G= (p.Ala506=)
n.1394G=
c.1440G= (p.Ala480=)
c.1710G= (p.Ala570=)
c.1719G= (p.Ala573=)
c.1065G= (p.Ala355=)
c.1509G= (p.Ala503=)
9g.135770011G>TCA467698405KCNT1c.1575G>T (p.Ala525=)
c.1416G>T (p.Ala472=)
c.1323G>T (p.Ala441=)
c.1332G>T (p.Ala444=)
c.1476G>T (p.Ala492=)
c.*1185G>T (n.*1185G>T)
c.1458G>T (p.Ala486=)
c.1518G>T (p.Ala506=)
n.1394G>T
c.1440G>T (p.Ala480=)
c.1710G>T (p.Ala570=)
c.1719G>T (p.Ala573=)
c.1065G>T (p.Ala355=)
c.1509G>T (p.Ala503=)
 gnomAD v4
9g.135770012A>CCA375505970KCNT1c.1576A>C (p.Thr526Pro)
c.1417A>C (p.Thr473Pro)
c.1324A>C (p.Thr442Pro)
c.1333A>C (p.Thr445Pro)
c.1477A>C (p.Thr493Pro)
c.*1186A>C (n.*1186A>C)
c.1459A>C (p.Thr487Pro)
c.1519A>C (p.Thr507Pro)
n.1395A>C
c.1441A>C (p.Thr481Pro)
c.1711A>C (p.Thr571Pro)
c.1720A>C (p.Thr574Pro)
c.1066A>C (p.Thr356Pro)
c.1510A>C (p.Thr504Pro)
9g.135770012A>GCA375505971KCNT1c.1576A>G (p.Thr526Ala)
c.1417A>G (p.Thr473Ala)
c.1324A>G (p.Thr442Ala)
c.1333A>G (p.Thr445Ala)
c.1477A>G (p.Thr493Ala)
c.*1186A>G (n.*1186A>G)
c.1459A>G (p.Thr487Ala)
c.1519A>G (p.Thr507Ala)
n.1395A>G
c.1441A>G (p.Thr481Ala)
c.1711A>G (p.Thr571Ala)
c.1720A>G (p.Thr574Ala)
c.1066A>G (p.Thr356Ala)
c.1510A>G (p.Thr504Ala)
 gnomAD v4
9g.135770012A>TCA375505972KCNT1c.1576A>T (p.Thr526Ser)
c.1417A>T (p.Thr473Ser)
c.1324A>T (p.Thr442Ser)
c.1333A>T (p.Thr445Ser)
c.1477A>T (p.Thr493Ser)
c.*1186A>T (n.*1186A>T)
c.1459A>T (p.Thr487Ser)
c.1519A>T (p.Thr507Ser)
n.1395A>T
c.1441A>T (p.Thr481Ser)
c.1711A>T (p.Thr571Ser)
c.1720A>T (p.Thr574Ser)
c.1066A>T (p.Thr356Ser)
c.1510A>T (p.Thr504Ser)
9g.135770013C>ACA375505973KCNT1c.1577C>A (p.Thr526Asn)
c.1418C>A (p.Thr473Asn)
c.1325C>A (p.Thr442Asn)
c.1334C>A (p.Thr445Asn)
c.1478C>A (p.Thr493Asn)
c.*1187C>A (n.*1187C>A)
c.1460C>A (p.Thr487Asn)
c.1520C>A (p.Thr507Asn)
n.1396C>A
c.1442C>A (p.Thr481Asn)
c.1712C>A (p.Thr571Asn)
c.1721C>A (p.Thr574Asn)
c.1067C>A (p.Thr356Asn)
c.1511C>A (p.Thr504Asn)
9g.135770013C=CA1883872543KCNT1c.1577C= (p.Thr526=)
c.1418C= (p.Thr473=)
c.1325C= (p.Thr442=)
c.1334C= (p.Thr445=)
c.1478C= (p.Thr493=)
c.*1187C= (n.*1187C=)
c.1460C= (p.Thr487=)
c.1520C= (p.Thr507=)
n.1396C=
c.1442C= (p.Thr481=)
c.1712C= (p.Thr571=)
c.1721C= (p.Thr574=)
c.1067C= (p.Thr356=)
c.1511C= (p.Thr504=)
9g.135770013C>GCA201472701KCNT1c.1577C>G (p.Thr526Ser)
c.1418C>G (p.Thr473Ser)
c.1325C>G (p.Thr442Ser)
c.1334C>G (p.Thr445Ser)
c.1478C>G (p.Thr493Ser)
c.*1187C>G (n.*1187C>G)
c.1460C>G (p.Thr487Ser)
c.1520C>G (p.Thr507Ser)
n.1396C>G
c.1442C>G (p.Thr481Ser)
c.1712C>G (p.Thr571Ser)
c.1721C>G (p.Thr574Ser)
c.1067C>G (p.Thr356Ser)
c.1511C>G (p.Thr504Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.135770013C>TCA375505974KCNT1c.1577C>T (p.Thr526Ile)
c.1418C>T (p.Thr473Ile)
c.1325C>T (p.Thr442Ile)
c.1334C>T (p.Thr445Ile)
c.1478C>T (p.Thr493Ile)
c.*1187C>T (n.*1187C>T)
c.1460C>T (p.Thr487Ile)
c.1520C>T (p.Thr507Ile)
n.1396C>T
c.1442C>T (p.Thr481Ile)
c.1712C>T (p.Thr571Ile)
c.1721C>T (p.Thr574Ile)
c.1067C>T (p.Thr356Ile)
c.1511C>T (p.Thr504Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135770014C>ACA467698406KCNT1c.1578C>A (p.Thr526=)
c.1419C>A (p.Thr473=)
c.1326C>A (p.Thr442=)
c.1335C>A (p.Thr445=)
c.1479C>A (p.Thr493=)
c.*1188C>A (n.*1188C>A)
c.1461C>A (p.Thr487=)
c.1521C>A (p.Thr507=)
n.1397C>A
c.1443C>A (p.Thr481=)
c.1713C>A (p.Thr571=)
c.1722C>A (p.Thr574=)
c.1068C>A (p.Thr356=)
c.1512C>A (p.Thr504=)
 gnomAD v4
9g.135770014C>GCA467698407KCNT1c.1578C>G (p.Thr526=)
c.1419C>G (p.Thr473=)
c.1326C>G (p.Thr442=)
c.1335C>G (p.Thr445=)
c.1479C>G (p.Thr493=)
c.*1188C>G (n.*1188C>G)
c.1461C>G (p.Thr487=)
c.1521C>G (p.Thr507=)
n.1397C>G
c.1443C>G (p.Thr481=)
c.1713C>G (p.Thr571=)
c.1722C>G (p.Thr574=)
c.1068C>G (p.Thr356=)
c.1512C>G (p.Thr504=)
9g.135770014C>TCA467698408KCNT1c.1578C>T (p.Thr526=)
c.1419C>T (p.Thr473=)
c.1326C>T (p.Thr442=)
c.1335C>T (p.Thr445=)
c.1479C>T (p.Thr493=)
c.*1188C>T (n.*1188C>T)
c.1461C>T (p.Thr487=)
c.1521C>T (p.Thr507=)
n.1397C>T
c.1443C>T (p.Thr481=)
c.1713C>T (p.Thr571=)
c.1722C>T (p.Thr574=)
c.1068C>T (p.Thr356=)
c.1512C>T (p.Thr504=)
9g.135770015T>ACA375505975KCNT1c.1579T>A (p.Ser527Thr)
c.1420T>A (p.Ser474Thr)
c.1327T>A (p.Ser443Thr)
c.1336T>A (p.Ser446Thr)
c.1480T>A (p.Ser494Thr)
c.*1189T>A (n.*1189T>A)
c.1462T>A (p.Ser488Thr)
c.1522T>A (p.Ser508Thr)
n.1398T>A
c.1444T>A (p.Ser482Thr)
c.1714T>A (p.Ser572Thr)
c.1723T>A (p.Ser575Thr)
c.1069T>A (p.Ser357Thr)
c.1513T>A (p.Ser505Thr)
9g.135770015T>CCA375505976KCNT1c.1579T>C (p.Ser527Pro)
c.1420T>C (p.Ser474Pro)
c.1327T>C (p.Ser443Pro)
c.1336T>C (p.Ser446Pro)
c.1480T>C (p.Ser494Pro)
c.*1189T>C (n.*1189T>C)
c.1462T>C (p.Ser488Pro)
c.1522T>C (p.Ser508Pro)
n.1398T>C
c.1444T>C (p.Ser482Pro)
c.1714T>C (p.Ser572Pro)
c.1723T>C (p.Ser575Pro)
c.1069T>C (p.Ser357Pro)
c.1513T>C (p.Ser505Pro)
 gnomAD v4
9g.135770015T>GCA375505977KCNT1c.1579T>G (p.Ser527Ala)
c.1420T>G (p.Ser474Ala)
c.1327T>G (p.Ser443Ala)
c.1336T>G (p.Ser446Ala)
c.1480T>G (p.Ser494Ala)
c.*1189T>G (n.*1189T>G)
c.1462T>G (p.Ser488Ala)
c.1522T>G (p.Ser508Ala)
n.1398T>G
c.1444T>G (p.Ser482Ala)
c.1714T>G (p.Ser572Ala)
c.1723T>G (p.Ser575Ala)
c.1069T>G (p.Ser357Ala)
c.1513T>G (p.Ser505Ala)
9g.135770016C>ACA375505980KCNT1c.1580C>A (p.Ser527Tyr)
c.1421C>A (p.Ser474Tyr)
c.1328C>A (p.Ser443Tyr)
c.1337C>A (p.Ser446Tyr)
c.1481C>A (p.Ser494Tyr)
c.*1190C>A (n.*1190C>A)
c.1463C>A (p.Ser488Tyr)
c.1523C>A (p.Ser508Tyr)
n.1399C>A
c.1445C>A (p.Ser482Tyr)
c.1715C>A (p.Ser572Tyr)
c.1724C>A (p.Ser575Tyr)
c.1070C>A (p.Ser357Tyr)
c.1514C>A (p.Ser505Tyr)
 gnomAD v4
9g.135770016C=CA1883872544KCNT1c.1580C= (p.Ser527=)
c.1421C= (p.Ser474=)
c.1328C= (p.Ser443=)
c.1337C= (p.Ser446=)
c.1481C= (p.Ser494=)
c.*1190C= (n.*1190C=)
c.1463C= (p.Ser488=)
c.1523C= (p.Ser508=)
n.1399C=
c.1445C= (p.Ser482=)
c.1715C= (p.Ser572=)
c.1724C= (p.Ser575=)
c.1070C= (p.Ser357=)
c.1514C= (p.Ser505=)
9g.135770016C>GCA375505978KCNT1c.1580C>G (p.Ser527Cys)
c.1421C>G (p.Ser474Cys)
c.1328C>G (p.Ser443Cys)
c.1337C>G (p.Ser446Cys)
c.1481C>G (p.Ser494Cys)
c.*1190C>G (n.*1190C>G)
c.1463C>G (p.Ser488Cys)
c.1523C>G (p.Ser508Cys)
n.1399C>G
c.1445C>G (p.Ser482Cys)
c.1715C>G (p.Ser572Cys)
c.1724C>G (p.Ser575Cys)
c.1070C>G (p.Ser357Cys)
c.1514C>G (p.Ser505Cys)
9g.135770016C>TCA375505979KCNT1c.1580C>T (p.Ser527Phe)
c.1421C>T (p.Ser474Phe)
c.1328C>T (p.Ser443Phe)
c.1337C>T (p.Ser446Phe)
c.1481C>T (p.Ser494Phe)
c.*1190C>T (n.*1190C>T)
c.1463C>T (p.Ser488Phe)
c.1523C>T (p.Ser508Phe)
n.1399C>T
c.1445C>T (p.Ser482Phe)
c.1715C>T (p.Ser572Phe)
c.1724C>T (p.Ser575Phe)
c.1070C>T (p.Ser357Phe)
c.1514C>T (p.Ser505Phe)
 gnomAD v4
9g.135770017C>ACA467698411KCNT1c.1581C>A (p.Ser527=)
c.1422C>A (p.Ser474=)
c.1329C>A (p.Ser443=)
c.1338C>A (p.Ser446=)
c.1482C>A (p.Ser494=)
c.*1191C>A (n.*1191C>A)
c.1464C>A (p.Ser488=)
c.1524C>A (p.Ser508=)
n.1400C>A
c.1446C>A (p.Ser482=)
c.1716C>A (p.Ser572=)
c.1725C>A (p.Ser575=)
c.1071C>A (p.Ser357=)
c.1515C>A (p.Ser505=)
 gnomAD v4
9g.135770017C>GCA467698409KCNT1c.1581C>G (p.Ser527=)
c.1422C>G (p.Ser474=)
c.1329C>G (p.Ser443=)
c.1338C>G (p.Ser446=)
c.1482C>G (p.Ser494=)
c.*1191C>G (n.*1191C>G)
c.1464C>G (p.Ser488=)
c.1524C>G (p.Ser508=)
n.1400C>G
c.1446C>G (p.Ser482=)
c.1716C>G (p.Ser572=)
c.1725C>G (p.Ser575=)
c.1071C>G (p.Ser357=)
c.1515C>G (p.Ser505=)
9g.135770017C>TCA467698410KCNT1c.1581C>T (p.Ser527=)
c.1422C>T (p.Ser474=)
c.1329C>T (p.Ser443=)
c.1338C>T (p.Ser446=)
c.1482C>T (p.Ser494=)
c.*1191C>T (n.*1191C>T)
c.1464C>T (p.Ser488=)
c.1524C>T (p.Ser508=)
n.1400C>T
c.1446C>T (p.Ser482=)
c.1716C>T (p.Ser572=)
c.1725C>T (p.Ser575=)
c.1071C>T (p.Ser357=)
c.1515C>T (p.Ser505=)
 dbSNP gnomAD v4
9g.135770023_135770031dupCA591146005KCNT1c.1587_1595dup (p.Leu532_Leu533insIleThrLeu)
c.1428_1436dup (p.Leu479_Leu480insIleThrLeu)
c.1335_1343dup (p.Leu448_Leu449insIleThrLeu)
c.1344_1352dup (p.Leu451_Leu452insIleThrLeu)
c.1488_1496dup (p.Leu499_Leu500insIleThrLeu)
c.*1197_*1205dup (n.*1197_*1205dup)
c.1470_1478dup (p.Leu493_Leu494insIleThrLeu)
c.1530_1538dup (p.Leu513_Leu514insIleThrLeu)
n.1406_1414dup
c.1452_1460dup (p.Leu487_Leu488insIleThrLeu)
c.1722_1730dup (p.Leu577_Leu578insIleThrLeu)
c.1731_1739dup (p.Leu580_Leu581insIleThrLeu)
c.1077_1085dup (p.Leu362_Leu363insIleThrLeu)
c.1521_1529dup (p.Leu510_Leu511insIleThrLeu)
 dbSNP gnomAD v2 gnomAD v4
9g.135770023_135770031delCA2692518232KCNT1c.1587_1595del (p.Ile530_Leu532del)
c.1428_1436del (p.Ile477_Leu479del)
c.1335_1343del (p.Ile446_Leu448del)
c.1344_1352del (p.Ile449_Leu451del)
c.1488_1496del (p.Ile497_Leu499del)
c.*1197_*1205del (n.*1197_*1205del)
c.1470_1478del (p.Ile491_Leu493del)
c.1530_1538del (p.Ile511_Leu513del)
n.1406_1414del
c.1452_1460del (p.Ile485_Leu487del)
c.1722_1730del (p.Ile575_Leu577del)
c.1731_1739del (p.Ile578_Leu580del)
c.1077_1085del (p.Ile360_Leu362del)
c.1521_1529del (p.Ile508_Leu510del)
 gnomAD v4
9g.135770018A>CCA375505981KCNT1c.1582A>C (p.Thr528Pro)
c.1423A>C (p.Thr475Pro)
c.1330A>C (p.Thr444Pro)
c.1339A>C (p.Thr447Pro)
c.1483A>C (p.Thr495Pro)
c.*1192A>C (n.*1192A>C)
c.1465A>C (p.Thr489Pro)
c.1525A>C (p.Thr509Pro)
n.1401A>C
c.1447A>C (p.Thr483Pro)
c.1717A>C (p.Thr573Pro)
c.1726A>C (p.Thr576Pro)
c.1072A>C (p.Thr358Pro)
c.1516A>C (p.Thr506Pro)
9g.135770018A>GCA375505982KCNT1c.1582A>G (p.Thr528Ala)
c.1423A>G (p.Thr475Ala)
c.1330A>G (p.Thr444Ala)
c.1339A>G (p.Thr447Ala)
c.1483A>G (p.Thr495Ala)
c.*1192A>G (n.*1192A>G)
c.1465A>G (p.Thr489Ala)
c.1525A>G (p.Thr509Ala)
n.1401A>G
c.1447A>G (p.Thr483Ala)
c.1717A>G (p.Thr573Ala)
c.1726A>G (p.Thr576Ala)
c.1072A>G (p.Thr358Ala)
c.1516A>G (p.Thr506Ala)
 gnomAD v4
9g.135770018A>TCA375505983KCNT1c.1582A>T (p.Thr528Ser)
c.1423A>T (p.Thr475Ser)
c.1330A>T (p.Thr444Ser)
c.1339A>T (p.Thr447Ser)
c.1483A>T (p.Thr495Ser)
c.*1192A>T (n.*1192A>T)
c.1465A>T (p.Thr489Ser)
c.1525A>T (p.Thr509Ser)
n.1401A>T
c.1447A>T (p.Thr483Ser)
c.1717A>T (p.Thr573Ser)
c.1726A>T (p.Thr576Ser)
c.1072A>T (p.Thr358Ser)
c.1516A>T (p.Thr506Ser)
 gnomAD v4
9g.135770019C>ACA375505984KCNT1c.1583C>A (p.Thr528Asn)
c.1424C>A (p.Thr475Asn)
c.1331C>A (p.Thr444Asn)
c.1340C>A (p.Thr447Asn)
c.1484C>A (p.Thr495Asn)
c.*1193C>A (n.*1193C>A)
c.1466C>A (p.Thr489Asn)
c.1526C>A (p.Thr509Asn)
n.1402C>A
c.1448C>A (p.Thr483Asn)
c.1718C>A (p.Thr573Asn)
c.1727C>A (p.Thr576Asn)
c.1073C>A (p.Thr358Asn)
c.1517C>A (p.Thr506Asn)
 gnomAD v4
9g.135770019C>GCA375505985KCNT1c.1583C>G (p.Thr528Ser)
c.1424C>G (p.Thr475Ser)
c.1331C>G (p.Thr444Ser)
c.1340C>G (p.Thr447Ser)
c.1484C>G (p.Thr495Ser)
c.*1193C>G (n.*1193C>G)
c.1466C>G (p.Thr489Ser)
c.1526C>G (p.Thr509Ser)
n.1402C>G
c.1448C>G (p.Thr483Ser)
c.1718C>G (p.Thr573Ser)
c.1727C>G (p.Thr576Ser)
c.1073C>G (p.Thr358Ser)
c.1517C>G (p.Thr506Ser)
9g.135770019C>TCA375505986KCNT1c.1583C>T (p.Thr528Ile)
c.1424C>T (p.Thr475Ile)
c.1331C>T (p.Thr444Ile)
c.1340C>T (p.Thr447Ile)
c.1484C>T (p.Thr495Ile)
c.*1193C>T (n.*1193C>T)
c.1466C>T (p.Thr489Ile)
c.1526C>T (p.Thr509Ile)
n.1402C>T
c.1448C>T (p.Thr483Ile)
c.1718C>T (p.Thr573Ile)
c.1727C>T (p.Thr576Ile)
c.1073C>T (p.Thr358Ile)
c.1517C>T (p.Thr506Ile)
 gnomAD v4
9g.135770020C>ACA467698414KCNT1c.1584C>A (p.Thr528=)
c.1425C>A (p.Thr475=)
c.1332C>A (p.Thr444=)
c.1341C>A (p.Thr447=)
c.1485C>A (p.Thr495=)
c.*1194C>A (n.*1194C>A)
c.1467C>A (p.Thr489=)
c.1527C>A (p.Thr509=)
n.1403C>A
c.1449C>A (p.Thr483=)
c.1719C>A (p.Thr573=)
c.1728C>A (p.Thr576=)
c.1074C>A (p.Thr358=)
c.1518C>A (p.Thr506=)
 gnomAD v4
9g.135770020C=CA1883872547KCNT1c.1584C= (p.Thr528=)
c.1425C= (p.Thr475=)
c.1332C= (p.Thr444=)
c.1341C= (p.Thr447=)
c.1485C= (p.Thr495=)
c.*1194C= (n.*1194C=)
c.1467C= (p.Thr489=)
c.1527C= (p.Thr509=)
n.1403C=
c.1449C= (p.Thr483=)
c.1719C= (p.Thr573=)
c.1728C= (p.Thr576=)
c.1074C= (p.Thr358=)
c.1518C= (p.Thr506=)
9g.135770020C>GCA467698413KCNT1c.1584C>G (p.Thr528=)
c.1425C>G (p.Thr475=)
c.1332C>G (p.Thr444=)
c.1341C>G (p.Thr447=)
c.1485C>G (p.Thr495=)
c.*1194C>G (n.*1194C>G)
c.1467C>G (p.Thr489=)
c.1527C>G (p.Thr509=)
n.1403C>G
c.1449C>G (p.Thr483=)
c.1719C>G (p.Thr573=)
c.1728C>G (p.Thr576=)
c.1074C>G (p.Thr358=)
c.1518C>G (p.Thr506=)
9g.135770020C>TCA467698412KCNT1c.1584C>T (p.Thr528=)
c.1425C>T (p.Thr475=)
c.1332C>T (p.Thr444=)
c.1341C>T (p.Thr447=)
c.1485C>T (p.Thr495=)
c.*1194C>T (n.*1194C>T)
c.1467C>T (p.Thr489=)
c.1527C>T (p.Thr509=)
n.1403C>T
c.1449C>T (p.Thr483=)
c.1719C>T (p.Thr573=)
c.1728C>T (p.Thr576=)
c.1074C>T (p.Thr358=)
c.1518C>T (p.Thr506=)
 dbSNP gnomAD v2 gnomAD v4
9g.135770021C>ACA375505987KCNT1c.1585C>A (p.Leu529Ile)
c.1426C>A (p.Leu476Ile)
c.1333C>A (p.Leu445Ile)
c.1342C>A (p.Leu448Ile)
c.1486C>A (p.Leu496Ile)
c.*1195C>A (n.*1195C>A)
c.1468C>A (p.Leu490Ile)
c.1528C>A (p.Leu510Ile)
n.1404C>A
c.1450C>A (p.Leu484Ile)
c.1720C>A (p.Leu574Ile)
c.1729C>A (p.Leu577Ile)
c.1075C>A (p.Leu359Ile)
c.1519C>A (p.Leu507Ile)
 gnomAD v4
9g.135770021C=CA1883872550KCNT1c.1585C= (p.Leu529=)
c.1426C= (p.Leu476=)
c.1333C= (p.Leu445=)
c.1342C= (p.Leu448=)
c.1486C= (p.Leu496=)
c.*1195C= (n.*1195C=)
c.1468C= (p.Leu490=)
c.1528C= (p.Leu510=)
n.1404C=
c.1450C= (p.Leu484=)
c.1720C= (p.Leu574=)
c.1729C= (p.Leu577=)
c.1075C= (p.Leu359=)
c.1519C= (p.Leu507=)
9g.135770021C>GCA375505988KCNT1c.1585C>G (p.Leu529Val)
c.1426C>G (p.Leu476Val)
c.1333C>G (p.Leu445Val)
c.1342C>G (p.Leu448Val)
c.1486C>G (p.Leu496Val)
c.*1195C>G (n.*1195C>G)
c.1468C>G (p.Leu490Val)
c.1528C>G (p.Leu510Val)
n.1404C>G
c.1450C>G (p.Leu484Val)
c.1720C>G (p.Leu574Val)
c.1729C>G (p.Leu577Val)
c.1075C>G (p.Leu359Val)
c.1519C>G (p.Leu507Val)
 ClinVar gnomAD v4
9g.135770021C>TCA375505989KCNT1c.1585C>T (p.Leu529Phe)
c.1426C>T (p.Leu476Phe)
c.1333C>T (p.Leu445Phe)
c.1342C>T (p.Leu448Phe)
c.1486C>T (p.Leu496Phe)
c.*1195C>T (n.*1195C>T)
c.1468C>T (p.Leu490Phe)
c.1528C>T (p.Leu510Phe)
n.1404C>T
c.1450C>T (p.Leu484Phe)
c.1720C>T (p.Leu574Phe)
c.1729C>T (p.Leu577Phe)
c.1075C>T (p.Leu359Phe)
c.1519C>T (p.Leu507Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.135770022T>ACA375505990KCNT1c.1586T>A (p.Leu529His)
c.1427T>A (p.Leu476His)
c.1334T>A (p.Leu445His)
c.1343T>A (p.Leu448His)
c.1487T>A (p.Leu496His)
c.*1196T>A (n.*1196T>A)
c.1469T>A (p.Leu490His)
c.1529T>A (p.Leu510His)
n.1405T>A
c.1451T>A (p.Leu484His)
c.1721T>A (p.Leu574His)
c.1730T>A (p.Leu577His)
c.1076T>A (p.Leu359His)
c.1520T>A (p.Leu507His)
 gnomAD v4
9g.135770022T>CCA375505991KCNT1c.1586T>C (p.Leu529Pro)
c.1427T>C (p.Leu476Pro)
c.1334T>C (p.Leu445Pro)
c.1343T>C (p.Leu448Pro)
c.1487T>C (p.Leu496Pro)
c.*1196T>C (n.*1196T>C)
c.1469T>C (p.Leu490Pro)
c.1529T>C (p.Leu510Pro)
n.1405T>C
c.1451T>C (p.Leu484Pro)
c.1721T>C (p.Leu574Pro)
c.1730T>C (p.Leu577Pro)
c.1076T>C (p.Leu359Pro)
c.1520T>C (p.Leu507Pro)
 gnomAD v4
9g.135770022T>GCA375505992KCNT1c.1586T>G (p.Leu529Arg)
c.1427T>G (p.Leu476Arg)
c.1334T>G (p.Leu445Arg)
c.1343T>G (p.Leu448Arg)
c.1487T>G (p.Leu496Arg)
c.*1196T>G (n.*1196T>G)
c.1469T>G (p.Leu490Arg)
c.1529T>G (p.Leu510Arg)
n.1405T>G
c.1451T>G (p.Leu484Arg)
c.1721T>G (p.Leu574Arg)
c.1730T>G (p.Leu577Arg)
c.1076T>G (p.Leu359Arg)
c.1520T>G (p.Leu507Arg)
 gnomAD v4
9g.135770023C>ACA467698415KCNT1c.1587C>A (p.Leu529=)
c.1428C>A (p.Leu476=)
c.1335C>A (p.Leu445=)
c.1344C>A (p.Leu448=)
c.1488C>A (p.Leu496=)
c.*1197C>A (n.*1197C>A)
c.1470C>A (p.Leu490=)
c.1530C>A (p.Leu510=)
n.1406C>A
c.1452C>A (p.Leu484=)
c.1722C>A (p.Leu574=)
c.1731C>A (p.Leu577=)
c.1077C>A (p.Leu359=)
c.1521C>A (p.Leu507=)
 gnomAD v4 COSMIC COSMIC
9g.135770023C>GCA467698416KCNT1c.1587C>G (p.Leu529=)
c.1428C>G (p.Leu476=)
c.1335C>G (p.Leu445=)
c.1344C>G (p.Leu448=)
c.1488C>G (p.Leu496=)
c.*1197C>G (n.*1197C>G)
c.1470C>G (p.Leu490=)
c.1530C>G (p.Leu510=)
n.1406C>G
c.1452C>G (p.Leu484=)
c.1722C>G (p.Leu574=)
c.1731C>G (p.Leu577=)
c.1077C>G (p.Leu359=)
c.1521C>G (p.Leu507=)
9g.135770023C>TCA467698417KCNT1c.1587C>T (p.Leu529=)
c.1428C>T (p.Leu476=)
c.1335C>T (p.Leu445=)
c.1344C>T (p.Leu448=)
c.1488C>T (p.Leu496=)
c.*1197C>T (n.*1197C>T)
c.1470C>T (p.Leu490=)
c.1530C>T (p.Leu510=)
n.1406C>T
c.1452C>T (p.Leu484=)
c.1722C>T (p.Leu574=)
c.1731C>T (p.Leu577=)
c.1077C>T (p.Leu359=)
c.1521C>T (p.Leu507=)
 gnomAD v4
9g.135770024A>CCA375505993KCNT1c.1588A>C (p.Ile530Leu)
c.1429A>C (p.Ile477Leu)
c.1336A>C (p.Ile446Leu)
c.1345A>C (p.Ile449Leu)
c.1489A>C (p.Ile497Leu)
c.*1198A>C (n.*1198A>C)
c.1471A>C (p.Ile491Leu)
c.1531A>C (p.Ile511Leu)
n.1407A>C
c.1453A>C (p.Ile485Leu)
c.1723A>C (p.Ile575Leu)
c.1732A>C (p.Ile578Leu)
c.1078A>C (p.Ile360Leu)
c.1522A>C (p.Ile508Leu)
9g.135770024A>GCA375505995KCNT1c.1588A>G (p.Ile530Val)
c.1429A>G (p.Ile477Val)
c.1336A>G (p.Ile446Val)
c.1345A>G (p.Ile449Val)
c.1489A>G (p.Ile497Val)
c.*1198A>G (n.*1198A>G)
c.1471A>G (p.Ile491Val)
c.1531A>G (p.Ile511Val)
n.1407A>G
c.1453A>G (p.Ile485Val)
c.1723A>G (p.Ile575Val)
c.1732A>G (p.Ile578Val)
c.1078A>G (p.Ile360Val)
c.1522A>G (p.Ile508Val)
 gnomAD v4
9g.135770024A>TCA375505994KCNT1c.1588A>T (p.Ile530Phe)
c.1429A>T (p.Ile477Phe)
c.1336A>T (p.Ile446Phe)
c.1345A>T (p.Ile449Phe)
c.1489A>T (p.Ile497Phe)
c.*1198A>T (n.*1198A>T)
c.1471A>T (p.Ile491Phe)
c.1531A>T (p.Ile511Phe)
n.1407A>T
c.1453A>T (p.Ile485Phe)
c.1723A>T (p.Ile575Phe)
c.1732A>T (p.Ile578Phe)
c.1078A>T (p.Ile360Phe)
c.1522A>T (p.Ile508Phe)
9g.135770025T>ACA375505996KCNT1c.1589T>A (p.Ile530Asn)
c.1430T>A (p.Ile477Asn)
c.1337T>A (p.Ile446Asn)
c.1346T>A (p.Ile449Asn)
c.1490T>A (p.Ile497Asn)
c.*1199T>A (n.*1199T>A)
c.1472T>A (p.Ile491Asn)
c.1532T>A (p.Ile511Asn)
n.1408T>A
c.1454T>A (p.Ile485Asn)
c.1724T>A (p.Ile575Asn)
c.1733T>A (p.Ile578Asn)
c.1079T>A (p.Ile360Asn)
c.1523T>A (p.Ile508Asn)
 gnomAD v4
9g.135770025T>CCA375505998KCNT1c.1589T>C (p.Ile530Thr)
c.1430T>C (p.Ile477Thr)
c.1337T>C (p.Ile446Thr)
c.1346T>C (p.Ile449Thr)
c.1490T>C (p.Ile497Thr)
c.*1199T>C (n.*1199T>C)
c.1472T>C (p.Ile491Thr)
c.1532T>C (p.Ile511Thr)
n.1408T>C
c.1454T>C (p.Ile485Thr)
c.1724T>C (p.Ile575Thr)
c.1733T>C (p.Ile578Thr)
c.1079T>C (p.Ile360Thr)
c.1523T>C (p.Ile508Thr)
 gnomAD v4
9g.135770025T>GCA375505997KCNT1c.1589T>G (p.Ile530Ser)
c.1430T>G (p.Ile477Ser)
c.1337T>G (p.Ile446Ser)
c.1346T>G (p.Ile449Ser)
c.1490T>G (p.Ile497Ser)
c.*1199T>G (n.*1199T>G)
c.1472T>G (p.Ile491Ser)
c.1532T>G (p.Ile511Ser)
n.1408T>G
c.1454T>G (p.Ile485Ser)
c.1724T>G (p.Ile575Ser)
c.1733T>G (p.Ile578Ser)
c.1079T>G (p.Ile360Ser)
c.1523T>G (p.Ile508Ser)
9g.135770026C>ACA467698418KCNT1c.1590C>A (p.Ile530=)
c.1431C>A (p.Ile477=)
c.1338C>A (p.Ile446=)
c.1347C>A (p.Ile449=)
c.1491C>A (p.Ile497=)
c.*1200C>A (n.*1200C>A)
c.1473C>A (p.Ile491=)
c.1533C>A (p.Ile511=)
n.1409C>A
c.1455C>A (p.Ile485=)
c.1725C>A (p.Ile575=)
c.1734C>A (p.Ile578=)
c.1080C>A (p.Ile360=)
c.1524C>A (p.Ile508=)
 gnomAD v4
9g.135770026C=CA1883872557KCNT1c.1590C= (p.Ile530=)
c.1431C= (p.Ile477=)
c.1338C= (p.Ile446=)
c.1347C= (p.Ile449=)
c.1491C= (p.Ile497=)
c.*1200C= (n.*1200C=)
c.1473C= (p.Ile491=)
c.1533C= (p.Ile511=)
n.1409C=
c.1455C= (p.Ile485=)
c.1725C= (p.Ile575=)
c.1734C= (p.Ile578=)
c.1080C= (p.Ile360=)
c.1524C= (p.Ile508=)
9g.135770026C>GCA375505999KCNT1c.1590C>G (p.Ile530Met)
c.1431C>G (p.Ile477Met)
c.1338C>G (p.Ile446Met)
c.1347C>G (p.Ile449Met)
c.1491C>G (p.Ile497Met)
c.*1200C>G (n.*1200C>G)
c.1473C>G (p.Ile491Met)
c.1533C>G (p.Ile511Met)
n.1409C>G
c.1455C>G (p.Ile485Met)
c.1725C>G (p.Ile575Met)
c.1734C>G (p.Ile578Met)
c.1080C>G (p.Ile360Met)
c.1524C>G (p.Ile508Met)
9g.135770026C>TCA467698419KCNT1c.1590C>T (p.Ile530=)
c.1431C>T (p.Ile477=)
c.1338C>T (p.Ile446=)
c.1347C>T (p.Ile449=)
c.1491C>T (p.Ile497=)
c.*1200C>T (n.*1200C>T)
c.1473C>T (p.Ile491=)
c.1533C>T (p.Ile511=)
n.1409C>T
c.1455C>T (p.Ile485=)
c.1725C>T (p.Ile575=)
c.1734C>T (p.Ile578=)
c.1080C>T (p.Ile360=)
c.1524C>T (p.Ile508=)
 dbSNP gnomAD v2 gnomAD v4
9g.135770027A=CA1883872560KCNT1c.1591A= (p.Thr531=)
c.1432A= (p.Thr478=)
c.1339A= (p.Thr447=)
c.1348A= (p.Thr450=)
c.1492A= (p.Thr498=)
c.*1201A= (n.*1201A=)
c.1474A= (p.Thr492=)
c.1534A= (p.Thr512=)
n.1410A=
c.1456A= (p.Thr486=)
c.1726A= (p.Thr576=)
c.1735A= (p.Thr579=)
c.1081A= (p.Thr361=)
c.1525A= (p.Thr509=)
9g.135770027A>CCA375506000KCNT1c.1591A>C (p.Thr531Pro)
c.1432A>C (p.Thr478Pro)
c.1339A>C (p.Thr447Pro)
c.1348A>C (p.Thr450Pro)
c.1492A>C (p.Thr498Pro)
c.*1201A>C (n.*1201A>C)
c.1474A>C (p.Thr492Pro)
c.1534A>C (p.Thr512Pro)
n.1410A>C
c.1456A>C (p.Thr486Pro)
c.1726A>C (p.Thr576Pro)
c.1735A>C (p.Thr579Pro)
c.1081A>C (p.Thr361Pro)
c.1525A>C (p.Thr509Pro)
9g.135770027A>GCA375506001KCNT1c.1591A>G (p.Thr531Ala)
c.1432A>G (p.Thr478Ala)
c.1339A>G (p.Thr447Ala)
c.1348A>G (p.Thr450Ala)
c.1492A>G (p.Thr498Ala)
c.*1201A>G (n.*1201A>G)
c.1474A>G (p.Thr492Ala)
c.1534A>G (p.Thr512Ala)
n.1410A>G
c.1456A>G (p.Thr486Ala)
c.1726A>G (p.Thr576Ala)
c.1735A>G (p.Thr579Ala)
c.1081A>G (p.Thr361Ala)
c.1525A>G (p.Thr509Ala)
 gnomAD v4
9g.135770027A>TCA375506002KCNT1c.1591A>T (p.Thr531Ser)
c.1432A>T (p.Thr478Ser)
c.1339A>T (p.Thr447Ser)
c.1348A>T (p.Thr450Ser)
c.1492A>T (p.Thr498Ser)
c.*1201A>T (n.*1201A>T)
c.1474A>T (p.Thr492Ser)
c.1534A>T (p.Thr512Ser)
n.1410A>T
c.1456A>T (p.Thr486Ser)
c.1726A>T (p.Thr576Ser)
c.1735A>T (p.Thr579Ser)
c.1081A>T (p.Thr361Ser)
c.1525A>T (p.Thr509Ser)
 dbSNP gnomAD v4
9g.135770028C>ACA375506003KCNT1c.1592C>A (p.Thr531Asn)
c.1433C>A (p.Thr478Asn)
c.1340C>A (p.Thr447Asn)
c.1349C>A (p.Thr450Asn)
c.1493C>A (p.Thr498Asn)
c.*1202C>A (n.*1202C>A)
c.1475C>A (p.Thr492Asn)
c.1535C>A (p.Thr512Asn)
n.1411C>A
c.1457C>A (p.Thr486Asn)
c.1727C>A (p.Thr576Asn)
c.1736C>A (p.Thr579Asn)
c.1082C>A (p.Thr361Asn)
c.1526C>A (p.Thr509Asn)
 gnomAD v4
9g.135770028C=CA1883872561KCNT1c.1592C= (p.Thr531=)
c.1433C= (p.Thr478=)
c.1340C= (p.Thr447=)
c.1349C= (p.Thr450=)
c.1493C= (p.Thr498=)
c.*1202C= (n.*1202C=)
c.1475C= (p.Thr492=)
c.1535C= (p.Thr512=)
n.1411C=
c.1457C= (p.Thr486=)
c.1727C= (p.Thr576=)
c.1736C= (p.Thr579=)
c.1082C= (p.Thr361=)
c.1526C= (p.Thr509=)
9g.135770028C>GCA375506004KCNT1c.1592C>G (p.Thr531Ser)
c.1433C>G (p.Thr478Ser)
c.1340C>G (p.Thr447Ser)
c.1349C>G (p.Thr450Ser)
c.1493C>G (p.Thr498Ser)
c.*1202C>G (n.*1202C>G)
c.1475C>G (p.Thr492Ser)
c.1535C>G (p.Thr512Ser)
n.1411C>G
c.1457C>G (p.Thr486Ser)
c.1727C>G (p.Thr576Ser)
c.1736C>G (p.Thr579Ser)
c.1082C>G (p.Thr361Ser)
c.1526C>G (p.Thr509Ser)
9g.135770028C>TCA201472704KCNT1c.1592C>T (p.Thr531Ile)
c.1433C>T (p.Thr478Ile)
c.1340C>T (p.Thr447Ile)
c.1349C>T (p.Thr450Ile)
c.1493C>T (p.Thr498Ile)
c.*1202C>T (n.*1202C>T)
c.1475C>T (p.Thr492Ile)
c.1535C>T (p.Thr512Ile)
n.1411C>T
c.1457C>T (p.Thr486Ile)
c.1727C>T (p.Thr576Ile)
c.1736C>T (p.Thr579Ile)
c.1082C>T (p.Thr361Ile)
c.1526C>T (p.Thr509Ile)
 dbSNP gnomAD v4
9g.135770029C>ACA467698420KCNT1c.1593C>A (p.Thr531=)
c.1434C>A (p.Thr478=)
c.1341C>A (p.Thr447=)
c.1350C>A (p.Thr450=)
c.1494C>A (p.Thr498=)
c.*1203C>A (n.*1203C>A)
c.1476C>A (p.Thr492=)
c.1536C>A (p.Thr512=)
n.1412C>A
c.1458C>A (p.Thr486=)
c.1728C>A (p.Thr576=)
c.1737C>A (p.Thr579=)
c.1083C>A (p.Thr361=)
c.1527C>A (p.Thr509=)
 gnomAD v4
9g.135770029C=CA1883872563KCNT1c.1593C= (p.Thr531=)
c.1434C= (p.Thr478=)
c.1341C= (p.Thr447=)
c.1350C= (p.Thr450=)
c.1494C= (p.Thr498=)
c.*1203C= (n.*1203C=)
c.1476C= (p.Thr492=)
c.1536C= (p.Thr512=)
n.1412C=
c.1458C= (p.Thr486=)
c.1728C= (p.Thr576=)
c.1737C= (p.Thr579=)
c.1083C= (p.Thr361=)
c.1527C= (p.Thr509=)
9g.135770029C>GCA467698421KCNT1c.1593C>G (p.Thr531=)
c.1434C>G (p.Thr478=)
c.1341C>G (p.Thr447=)
c.1350C>G (p.Thr450=)
c.1494C>G (p.Thr498=)
c.*1203C>G (n.*1203C>G)
c.1476C>G (p.Thr492=)
c.1536C>G (p.Thr512=)
n.1412C>G
c.1458C>G (p.Thr486=)
c.1728C>G (p.Thr576=)
c.1737C>G (p.Thr579=)
c.1083C>G (p.Thr361=)
c.1527C>G (p.Thr509=)
9g.135770029C>TCA5326969KCNT1c.1593C>T (p.Thr531=)
c.1434C>T (p.Thr478=)
c.1341C>T (p.Thr447=)
c.1350C>T (p.Thr450=)
c.1494C>T (p.Thr498=)
c.*1203C>T (n.*1203C>T)
c.1476C>T (p.Thr492=)
c.1536C>T (p.Thr512=)
n.1412C>T
c.1458C>T (p.Thr486=)
c.1728C>T (p.Thr576=)
c.1737C>T (p.Thr579=)
c.1083C>T (p.Thr361=)
c.1527C>T (p.Thr509=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770030C>ACA375506005KCNT1c.1594C>A (p.Leu532Met)
c.1435C>A (p.Leu479Met)
c.1342C>A (p.Leu448Met)
c.1351C>A (p.Leu451Met)
c.1495C>A (p.Leu499Met)
c.*1204C>A (n.*1204C>A)
c.1477C>A (p.Leu493Met)
c.1537C>A (p.Leu513Met)
n.1413C>A
c.1459C>A (p.Leu487Met)
c.1729C>A (p.Leu577Met)
c.1738C>A (p.Leu580Met)
c.1084C>A (p.Leu362Met)
c.1528C>A (p.Leu510Met)
 gnomAD v4
9g.135770030C>GCA375506006KCNT1c.1594C>G (p.Leu532Val)
c.1435C>G (p.Leu479Val)
c.1342C>G (p.Leu448Val)
c.1351C>G (p.Leu451Val)
c.1495C>G (p.Leu499Val)
c.*1204C>G (n.*1204C>G)
c.1477C>G (p.Leu493Val)
c.1537C>G (p.Leu513Val)
n.1413C>G
c.1459C>G (p.Leu487Val)
c.1729C>G (p.Leu577Val)
c.1738C>G (p.Leu580Val)
c.1084C>G (p.Leu362Val)
c.1528C>G (p.Leu510Val)
9g.135770030C>TCA467698422KCNT1c.1594C>T (p.Leu532=)
c.1435C>T (p.Leu479=)
c.1342C>T (p.Leu448=)
c.1351C>T (p.Leu451=)
c.1495C>T (p.Leu499=)
c.*1204C>T (n.*1204C>T)
c.1477C>T (p.Leu493=)
c.1537C>T (p.Leu513=)
n.1413C>T
c.1459C>T (p.Leu487=)
c.1729C>T (p.Leu577=)
c.1738C>T (p.Leu580=)
c.1084C>T (p.Leu362=)
c.1528C>T (p.Leu510=)
 gnomAD v4
9g.135770031T>ACA375506009KCNT1c.1595T>A (p.Leu532Gln)
c.1436T>A (p.Leu479Gln)
c.1343T>A (p.Leu448Gln)
c.1352T>A (p.Leu451Gln)
c.1496T>A (p.Leu499Gln)
c.*1205T>A (n.*1205T>A)
c.1478T>A (p.Leu493Gln)
c.1538T>A (p.Leu513Gln)
n.1414T>A
c.1460T>A (p.Leu487Gln)
c.1730T>A (p.Leu577Gln)
c.1739T>A (p.Leu580Gln)
c.1085T>A (p.Leu362Gln)
c.1529T>A (p.Leu510Gln)
 gnomAD v4
9g.135770031T>CCA375506008KCNT1c.1595T>C (p.Leu532Pro)
c.1436T>C (p.Leu479Pro)
c.1343T>C (p.Leu448Pro)
c.1352T>C (p.Leu451Pro)
c.1496T>C (p.Leu499Pro)
c.*1205T>C (n.*1205T>C)
c.1478T>C (p.Leu493Pro)
c.1538T>C (p.Leu513Pro)
n.1414T>C
c.1460T>C (p.Leu487Pro)
c.1730T>C (p.Leu577Pro)
c.1739T>C (p.Leu580Pro)
c.1085T>C (p.Leu362Pro)
c.1529T>C (p.Leu510Pro)
 gnomAD v4
9g.135770031T>GCA375506007KCNT1c.1595T>G (p.Leu532Arg)
c.1436T>G (p.Leu479Arg)
c.1343T>G (p.Leu448Arg)
c.1352T>G (p.Leu451Arg)
c.1496T>G (p.Leu499Arg)
c.*1205T>G (n.*1205T>G)
c.1478T>G (p.Leu493Arg)
c.1538T>G (p.Leu513Arg)
n.1414T>G
c.1460T>G (p.Leu487Arg)
c.1730T>G (p.Leu577Arg)
c.1739T>G (p.Leu580Arg)
c.1085T>G (p.Leu362Arg)
c.1529T>G (p.Leu510Arg)
9g.135770032G>ACA467698423KCNT1c.1596G>A (p.Leu532=)
c.1437G>A (p.Leu479=)
c.1344G>A (p.Leu448=)
c.1353G>A (p.Leu451=)
c.1497G>A (p.Leu499=)
c.*1206G>A (n.*1206G>A)
c.1479G>A (p.Leu493=)
c.1539G>A (p.Leu513=)
n.1415G>A
c.1461G>A (p.Leu487=)
c.1731G>A (p.Leu577=)
c.1740G>A (p.Leu580=)
c.1086G>A (p.Leu362=)
c.1530G>A (p.Leu510=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135770032G>CCA467698424KCNT1c.1596G>C (p.Leu532=)
c.1437G>C (p.Leu479=)
c.1344G>C (p.Leu448=)
c.1353G>C (p.Leu451=)
c.1497G>C (p.Leu499=)
c.*1206G>C (n.*1206G>C)
c.1479G>C (p.Leu493=)
c.1539G>C (p.Leu513=)
n.1415G>C
c.1461G>C (p.Leu487=)
c.1731G>C (p.Leu577=)
c.1740G>C (p.Leu580=)
c.1086G>C (p.Leu362=)
c.1530G>C (p.Leu510=)
 gnomAD v4
9g.135770032G=CA1883872572KCNT1c.1596G= (p.Leu532=)
c.1437G= (p.Leu479=)
c.1344G= (p.Leu448=)
c.1353G= (p.Leu451=)
c.1497G= (p.Leu499=)
c.*1206G= (n.*1206G=)
c.1479G= (p.Leu493=)
c.1539G= (p.Leu513=)
n.1415G=
c.1461G= (p.Leu487=)
c.1731G= (p.Leu577=)
c.1740G= (p.Leu580=)
c.1086G= (p.Leu362=)
c.1530G= (p.Leu510=)
9g.135770032G>TCA467698425KCNT1c.1596G>T (p.Leu532=)
c.1437G>T (p.Leu479=)
c.1344G>T (p.Leu448=)
c.1353G>T (p.Leu451=)
c.1497G>T (p.Leu499=)
c.*1206G>T (n.*1206G>T)
c.1479G>T (p.Leu493=)
c.1539G>T (p.Leu513=)
n.1415G>T
c.1461G>T (p.Leu487=)
c.1731G>T (p.Leu577=)
c.1740G>T (p.Leu580=)
c.1086G>T (p.Leu362=)
c.1530G>T (p.Leu510=)
 gnomAD v4
9g.135770033C>ACA375506010KCNT1c.1597C>A (p.Leu533Met)
c.1438C>A (p.Leu480Met)
c.1345C>A (p.Leu449Met)
c.1354C>A (p.Leu452Met)
c.1498C>A (p.Leu500Met)
c.*1207C>A (n.*1207C>A)
c.1480C>A (p.Leu494Met)
c.1540C>A (p.Leu514Met)
n.1416C>A
c.1462C>A (p.Leu488Met)
c.1732C>A (p.Leu578Met)
c.1741C>A (p.Leu581Met)
c.1087C>A (p.Leu363Met)
c.1531C>A (p.Leu511Met)
 gnomAD v4
9g.135770033C>GCA375506011KCNT1c.1597C>G (p.Leu533Val)
c.1438C>G (p.Leu480Val)
c.1345C>G (p.Leu449Val)
c.1354C>G (p.Leu452Val)
c.1498C>G (p.Leu500Val)
c.*1207C>G (n.*1207C>G)
c.1480C>G (p.Leu494Val)
c.1540C>G (p.Leu514Val)
n.1416C>G
c.1462C>G (p.Leu488Val)
c.1732C>G (p.Leu578Val)
c.1741C>G (p.Leu581Val)
c.1087C>G (p.Leu363Val)
c.1531C>G (p.Leu511Val)
9g.135770033C>TCA467698426KCNT1c.1597C>T (p.Leu533=)
c.1438C>T (p.Leu480=)
c.1345C>T (p.Leu449=)
c.1354C>T (p.Leu452=)
c.1498C>T (p.Leu500=)
c.*1207C>T (n.*1207C>T)
c.1480C>T (p.Leu494=)
c.1540C>T (p.Leu514=)
n.1416C>T
c.1462C>T (p.Leu488=)
c.1732C>T (p.Leu578=)
c.1741C>T (p.Leu581=)
c.1087C>T (p.Leu363=)
c.1531C>T (p.Leu511=)
 gnomAD v4
9g.135770034T>ACA375506012KCNT1c.1598T>A (p.Leu533Gln)
c.1439T>A (p.Leu480Gln)
c.1346T>A (p.Leu449Gln)
c.1355T>A (p.Leu452Gln)
c.1499T>A (p.Leu500Gln)
c.*1208T>A (n.*1208T>A)
c.1481T>A (p.Leu494Gln)
c.1541T>A (p.Leu514Gln)
n.1417T>A
c.1463T>A (p.Leu488Gln)
c.1733T>A (p.Leu578Gln)
c.1742T>A (p.Leu581Gln)
c.1088T>A (p.Leu363Gln)
c.1532T>A (p.Leu511Gln)
9g.135770034T>CCA375506013KCNT1c.1598T>C (p.Leu533Pro)
c.1439T>C (p.Leu480Pro)
c.1346T>C (p.Leu449Pro)
c.1355T>C (p.Leu452Pro)
c.1499T>C (p.Leu500Pro)
c.*1208T>C (n.*1208T>C)
c.1481T>C (p.Leu494Pro)
c.1541T>C (p.Leu514Pro)
n.1417T>C
c.1463T>C (p.Leu488Pro)
c.1733T>C (p.Leu578Pro)
c.1742T>C (p.Leu581Pro)
c.1088T>C (p.Leu363Pro)
c.1532T>C (p.Leu511Pro)
9g.135770034T>GCA375506014KCNT1c.1598T>G (p.Leu533Arg)
c.1439T>G (p.Leu480Arg)
c.1346T>G (p.Leu449Arg)
c.1355T>G (p.Leu452Arg)
c.1499T>G (p.Leu500Arg)
c.*1208T>G (n.*1208T>G)
c.1481T>G (p.Leu494Arg)
c.1541T>G (p.Leu514Arg)
n.1417T>G
c.1463T>G (p.Leu488Arg)
c.1733T>G (p.Leu578Arg)
c.1742T>G (p.Leu581Arg)
c.1088T>G (p.Leu363Arg)
c.1532T>G (p.Leu511Arg)
9g.135770035G>ACA467698427KCNT1c.1599G>A (p.Leu533=)
c.1440G>A (p.Leu480=)
c.1347G>A (p.Leu449=)
c.1356G>A (p.Leu452=)
c.1500G>A (p.Leu500=)
c.*1209G>A (n.*1209G>A)
c.1482G>A (p.Leu494=)
c.1542G>A (p.Leu514=)
n.1418G>A
c.1464G>A (p.Leu488=)
c.1734G>A (p.Leu578=)
c.1743G>A (p.Leu581=)
c.1089G>A (p.Leu363=)
c.1533G>A (p.Leu511=)
 gnomAD v4
9g.135770035G>CCA467698428KCNT1c.1599G>C (p.Leu533=)
c.1440G>C (p.Leu480=)
c.1347G>C (p.Leu449=)
c.1356G>C (p.Leu452=)
c.1500G>C (p.Leu500=)
c.*1209G>C (n.*1209G>C)
c.1482G>C (p.Leu494=)
c.1542G>C (p.Leu514=)
n.1418G>C
c.1464G>C (p.Leu488=)
c.1734G>C (p.Leu578=)
c.1743G>C (p.Leu581=)
c.1089G>C (p.Leu363=)
c.1533G>C (p.Leu511=)
9g.135770035G>TCA467698429KCNT1c.1599G>T (p.Leu533=)
c.1440G>T (p.Leu480=)
c.1347G>T (p.Leu449=)
c.1356G>T (p.Leu452=)
c.1500G>T (p.Leu500=)
c.*1209G>T (n.*1209G>T)
c.1482G>T (p.Leu494=)
c.1542G>T (p.Leu514=)
n.1418G>T
c.1464G>T (p.Leu488=)
c.1734G>T (p.Leu578=)
c.1743G>T (p.Leu581=)
c.1089G>T (p.Leu363=)
c.1533G>T (p.Leu511=)
 gnomAD v4
9g.135770035_135770036delCA2692518235KCNT1c.1599_1600del (p.Val534AlafsTer?)
c.1440_1441del (p.Val481AlafsTer?)
c.1347_1348del (p.Val450AlafsTer?)
c.1356_1357del (p.Val453AlafsTer?)
c.1500_1501del (p.Val501AlafsTer?)
c.*1209_*1210del (n.*1209_*1210del)
c.1482_1483del (p.Val495AlafsTer?)
c.1542_1543del (p.Val515AlafsTer?)
n.1418_1419del
c.1464_1465del (p.Val489AlafsTer?)
c.1734_1735del (p.Val579AlafsTer?)
c.1743_1744del (p.Val582AlafsTer?)
c.1089_1090del (p.Val364AlafsTer?)
c.1533_1534del (p.Val512AlafsTer?)
 gnomAD v4
9g.135770036G>ACA375506015KCNT1c.1600G>A (p.Val534Met)
c.1441G>A (p.Val481Met)
c.1348G>A (p.Val450Met)
c.1357G>A (p.Val453Met)
c.1501G>A (p.Val501Met)
c.*1210G>A (n.*1210G>A)
c.1483G>A (p.Val495Met)
c.1543G>A (p.Val515Met)
n.1419G>A
c.1465G>A (p.Val489Met)
c.1735G>A (p.Val579Met)
c.1744G>A (p.Val582Met)
c.1090G>A (p.Val364Met)
c.1534G>A (p.Val512Met)
9g.135770036G>CCA375506016KCNT1c.1600G>C (p.Val534Leu)
c.1441G>C (p.Val481Leu)
c.1348G>C (p.Val450Leu)
c.1357G>C (p.Val453Leu)
c.1501G>C (p.Val501Leu)
c.*1210G>C (n.*1210G>C)
c.1483G>C (p.Val495Leu)
c.1543G>C (p.Val515Leu)
n.1419G>C
c.1465G>C (p.Val489Leu)
c.1735G>C (p.Val579Leu)
c.1744G>C (p.Val582Leu)
c.1090G>C (p.Val364Leu)
c.1534G>C (p.Val512Leu)
9g.135770036G=CA1883872576KCNT1c.1600G= (p.Val534=)
c.1441G= (p.Val481=)
c.1348G= (p.Val450=)
c.1357G= (p.Val453=)
c.1501G= (p.Val501=)
c.*1210G= (n.*1210G=)
c.1483G= (p.Val495=)
c.1543G= (p.Val515=)
n.1419G=
c.1465G= (p.Val489=)
c.1735G= (p.Val579=)
c.1744G= (p.Val582=)
c.1090G= (p.Val364=)
c.1534G= (p.Val512=)
9g.135770036G>TCA375506017KCNT1c.1600G>T (p.Val534Leu)
c.1441G>T (p.Val481Leu)
c.1348G>T (p.Val450Leu)
c.1357G>T (p.Val453Leu)
c.1501G>T (p.Val501Leu)
c.*1210G>T (n.*1210G>T)
c.1483G>T (p.Val495Leu)
c.1543G>T (p.Val515Leu)
n.1419G>T
c.1465G>T (p.Val489Leu)
c.1735G>T (p.Val579Leu)
c.1744G>T (p.Val582Leu)
c.1090G>T (p.Val364Leu)
c.1534G>T (p.Val512Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.135770037T>ACA375506018KCNT1c.1601T>A (p.Val534Glu)
c.1442T>A (p.Val481Glu)
c.1349T>A (p.Val450Glu)
c.1358T>A (p.Val453Glu)
c.1502T>A (p.Val501Glu)
c.*1211T>A (n.*1211T>A)
c.1484T>A (p.Val495Glu)
c.1544T>A (p.Val515Glu)
n.1420T>A
c.1466T>A (p.Val489Glu)
c.1736T>A (p.Val579Glu)
c.1745T>A (p.Val582Glu)
c.1091T>A (p.Val364Glu)
c.1535T>A (p.Val512Glu)
9g.135770037T>CCA375506019KCNT1c.1601T>C (p.Val534Ala)
c.1442T>C (p.Val481Ala)
c.1349T>C (p.Val450Ala)
c.1358T>C (p.Val453Ala)
c.1502T>C (p.Val501Ala)
c.*1211T>C (n.*1211T>C)
c.1484T>C (p.Val495Ala)
c.1544T>C (p.Val515Ala)
n.1420T>C
c.1466T>C (p.Val489Ala)
c.1736T>C (p.Val579Ala)
c.1745T>C (p.Val582Ala)
c.1091T>C (p.Val364Ala)
c.1535T>C (p.Val512Ala)
 gnomAD v4
9g.135770037T>GCA375506020KCNT1c.1601T>G (p.Val534Gly)
c.1442T>G (p.Val481Gly)
c.1349T>G (p.Val450Gly)
c.1358T>G (p.Val453Gly)
c.1502T>G (p.Val501Gly)
c.*1211T>G (n.*1211T>G)
c.1484T>G (p.Val495Gly)
c.1544T>G (p.Val515Gly)
n.1420T>G
c.1466T>G (p.Val489Gly)
c.1736T>G (p.Val579Gly)
c.1745T>G (p.Val582Gly)
c.1091T>G (p.Val364Gly)
c.1535T>G (p.Val512Gly)
9g.135770038G>ACA467698433KCNT1c.1602G>A (p.Val534=)
c.1443G>A (p.Val481=)
c.1350G>A (p.Val450=)
c.1359G>A (p.Val453=)
c.1503G>A (p.Val501=)
c.*1212G>A (n.*1212G>A)
c.1485G>A (p.Val495=)
c.1545G>A (p.Val515=)
n.1421G>A
c.1467G>A (p.Val489=)
c.1737G>A (p.Val579=)
c.1746G>A (p.Val582=)
c.1092G>A (p.Val364=)
c.1536G>A (p.Val512=)
 ClinVar dbSNP gnomAD v4
9g.135770038G>CCA467698432KCNT1c.1602G>C (p.Val534=)
c.1443G>C (p.Val481=)
c.1350G>C (p.Val450=)
c.1359G>C (p.Val453=)
c.1503G>C (p.Val501=)
c.*1212G>C (n.*1212G>C)
c.1485G>C (p.Val495=)
c.1545G>C (p.Val515=)
n.1421G>C
c.1467G>C (p.Val489=)
c.1737G>C (p.Val579=)
c.1746G>C (p.Val582=)
c.1092G>C (p.Val364=)
c.1536G>C (p.Val512=)
9g.135770038G>TCA467698431KCNT1c.1602G>T (p.Val534=)
c.1443G>T (p.Val481=)
c.1350G>T (p.Val450=)
c.1359G>T (p.Val453=)
c.1503G>T (p.Val501=)
c.*1212G>T (n.*1212G>T)
c.1485G>T (p.Val495=)
c.1545G>T (p.Val515=)
n.1421G>T
c.1467G>T (p.Val489=)
c.1737G>T (p.Val579=)
c.1746G>T (p.Val582=)
c.1092G>T (p.Val364=)
c.1536G>T (p.Val512=)
 gnomAD v4
9g.135770039_135770119delCA2692518240KCNT1c.1603_1619+64del
c.1444_1460+64del
c.1351_1367+64del
c.1360_1376+64del
c.1504_1520+64del
c.*1213_*1229+64del
c.1486_1502+64del
c.1546_1562+64del
n.1422_1438+64del
c.1468_1484+64del
c.1738_1754+64del
c.1747_1763+64del
c.1093_1109+64del
c.1537_1553+64del
 gnomAD v4
9g.135770039C>ACA375506022KCNT1c.1603C>A (p.His535Asn)
c.1444C>A (p.His482Asn)
c.1351C>A (p.His451Asn)
c.1360C>A (p.His454Asn)
c.1504C>A (p.His502Asn)
c.*1213C>A (n.*1213C>A)
c.1486C>A (p.His496Asn)
c.1546C>A (p.His516Asn)
n.1422C>A
c.1468C>A (p.His490Asn)
c.1738C>A (p.His580Asn)
c.1747C>A (p.His583Asn)
c.1093C>A (p.His365Asn)
c.1537C>A (p.His513Asn)
 gnomAD v4
9g.135770039C>GCA375506023KCNT1c.1603C>G (p.His535Asp)
c.1444C>G (p.His482Asp)
c.1351C>G (p.His451Asp)
c.1360C>G (p.His454Asp)
c.1504C>G (p.His502Asp)
c.*1213C>G (n.*1213C>G)
c.1486C>G (p.His496Asp)
c.1546C>G (p.His516Asp)
n.1422C>G
c.1468C>G (p.His490Asp)
c.1738C>G (p.His580Asp)
c.1747C>G (p.His583Asp)
c.1093C>G (p.His365Asp)
c.1537C>G (p.His513Asp)
9g.135770039C>TCA375506021KCNT1c.1603C>T (p.His535Tyr)
c.1444C>T (p.His482Tyr)
c.1351C>T (p.His451Tyr)
c.1360C>T (p.His454Tyr)
c.1504C>T (p.His502Tyr)
c.*1213C>T (n.*1213C>T)
c.1486C>T (p.His496Tyr)
c.1546C>T (p.His516Tyr)
n.1422C>T
c.1468C>T (p.His490Tyr)
c.1738C>T (p.His580Tyr)
c.1747C>T (p.His583Tyr)
c.1093C>T (p.His365Tyr)
c.1537C>T (p.His513Tyr)
 gnomAD v4
9g.135770042_135770043delCA2692518243KCNT1c.1606_1607del (p.Thr536ValfsTer?)
c.1447_1448del (p.Thr483ValfsTer?)
c.1354_1355del (p.Thr452ValfsTer?)
c.1363_1364del (p.Thr455ValfsTer?)
c.1507_1508del (p.Thr503ValfsTer?)
c.*1216_*1217del (n.*1216_*1217del)
c.1489_1490del (p.Thr497ValfsTer?)
c.1549_1550del (p.Thr517ValfsTer?)
n.1425_1426del
c.1471_1472del (p.Thr491ValfsTer?)
c.1741_1742del (p.Thr581ValfsTer?)
c.1750_1751del (p.Thr584ValfsTer?)
c.1096_1097del (p.Thr366ValfsTer?)
c.1540_1541del (p.Thr514ValfsTer?)
 gnomAD v4
9g.135770040A>CCA375506024KCNT1c.1604A>C (p.His535Pro)
c.1445A>C (p.His482Pro)
c.1352A>C (p.His451Pro)
c.1361A>C (p.His454Pro)
c.1505A>C (p.His502Pro)
c.*1214A>C (n.*1214A>C)
c.1487A>C (p.His496Pro)
c.1547A>C (p.His516Pro)
n.1423A>C
c.1469A>C (p.His490Pro)
c.1739A>C (p.His580Pro)
c.1748A>C (p.His583Pro)
c.1094A>C (p.His365Pro)
c.1538A>C (p.His513Pro)
9g.135770040A>GCA375506025KCNT1c.1604A>G (p.His535Arg)
c.1445A>G (p.His482Arg)
c.1352A>G (p.His451Arg)
c.1361A>G (p.His454Arg)
c.1505A>G (p.His502Arg)
c.*1214A>G (n.*1214A>G)
c.1487A>G (p.His496Arg)
c.1547A>G (p.His516Arg)
n.1423A>G
c.1469A>G (p.His490Arg)
c.1739A>G (p.His580Arg)
c.1748A>G (p.His583Arg)
c.1094A>G (p.His365Arg)
c.1538A>G (p.His513Arg)
9g.135770040A>TCA375506026KCNT1c.1604A>T (p.His535Leu)
c.1445A>T (p.His482Leu)
c.1352A>T (p.His451Leu)
c.1361A>T (p.His454Leu)
c.1505A>T (p.His502Leu)
c.*1214A>T (n.*1214A>T)
c.1487A>T (p.His496Leu)
c.1547A>T (p.His516Leu)
n.1423A>T
c.1469A>T (p.His490Leu)
c.1739A>T (p.His580Leu)
c.1748A>T (p.His583Leu)
c.1094A>T (p.His365Leu)
c.1538A>T (p.His513Leu)
9g.135770041C>ACA375506027KCNT1c.1605C>A (p.His535Gln)
c.1446C>A (p.His482Gln)
c.1353C>A (p.His451Gln)
c.1362C>A (p.His454Gln)
c.1506C>A (p.His502Gln)
c.*1215C>A (n.*1215C>A)
c.1488C>A (p.His496Gln)
c.1548C>A (p.His516Gln)
n.1424C>A
c.1470C>A (p.His490Gln)
c.1740C>A (p.His580Gln)
c.1749C>A (p.His583Gln)
c.1095C>A (p.His365Gln)
c.1539C>A (p.His513Gln)
9g.135770041C=CA1883872581KCNT1c.1605C= (p.His535=)
c.1446C= (p.His482=)
c.1353C= (p.His451=)
c.1362C= (p.His454=)
c.1506C= (p.His502=)
c.*1215C= (n.*1215C=)
c.1488C= (p.His496=)
c.1548C= (p.His516=)
n.1424C=
c.1470C= (p.His490=)
c.1740C= (p.His580=)
c.1749C= (p.His583=)
c.1095C= (p.His365=)
c.1539C= (p.His513=)
9g.135770041C>GCA375506028KCNT1c.1605C>G (p.His535Gln)
c.1446C>G (p.His482Gln)
c.1353C>G (p.His451Gln)
c.1362C>G (p.His454Gln)
c.1506C>G (p.His502Gln)
c.*1215C>G (n.*1215C>G)
c.1488C>G (p.His496Gln)
c.1548C>G (p.His516Gln)
n.1424C>G
c.1470C>G (p.His490Gln)
c.1740C>G (p.His580Gln)
c.1749C>G (p.His583Gln)
c.1095C>G (p.His365Gln)
c.1539C>G (p.His513Gln)
9g.135770041C>TCA467698434KCNT1c.1605C>T (p.His535=)
c.1446C>T (p.His482=)
c.1353C>T (p.His451=)
c.1362C>T (p.His454=)
c.1506C>T (p.His502=)
c.*1215C>T (n.*1215C>T)
c.1488C>T (p.His496=)
c.1548C>T (p.His516=)
n.1424C>T
c.1470C>T (p.His490=)
c.1740C>T (p.His580=)
c.1749C>T (p.His583=)
c.1095C>T (p.His365=)
c.1539C>T (p.His513=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135770042A>CCA375506029KCNT1c.1606A>C (p.Thr536Pro)
c.1447A>C (p.Thr483Pro)
c.1354A>C (p.Thr452Pro)
c.1363A>C (p.Thr455Pro)
c.1507A>C (p.Thr503Pro)
c.*1216A>C (n.*1216A>C)
c.1489A>C (p.Thr497Pro)
c.1549A>C (p.Thr517Pro)
n.1425A>C
c.1471A>C (p.Thr491Pro)
c.1741A>C (p.Thr581Pro)
c.1750A>C (p.Thr584Pro)
c.1096A>C (p.Thr366Pro)
c.1540A>C (p.Thr514Pro)
9g.135770042A>GCA375506030KCNT1c.1606A>G (p.Thr536Ala)
c.1447A>G (p.Thr483Ala)
c.1354A>G (p.Thr452Ala)
c.1363A>G (p.Thr455Ala)
c.1507A>G (p.Thr503Ala)
c.*1216A>G (n.*1216A>G)
c.1489A>G (p.Thr497Ala)
c.1549A>G (p.Thr517Ala)
n.1425A>G
c.1471A>G (p.Thr491Ala)
c.1741A>G (p.Thr581Ala)
c.1750A>G (p.Thr584Ala)
c.1096A>G (p.Thr366Ala)
c.1540A>G (p.Thr514Ala)
 gnomAD v4
9g.135770042A>TCA375506031KCNT1c.1606A>T (p.Thr536Ser)
c.1447A>T (p.Thr483Ser)
c.1354A>T (p.Thr452Ser)
c.1363A>T (p.Thr455Ser)
c.1507A>T (p.Thr503Ser)
c.*1216A>T (n.*1216A>T)
c.1489A>T (p.Thr497Ser)
c.1549A>T (p.Thr517Ser)
n.1425A>T
c.1471A>T (p.Thr491Ser)
c.1741A>T (p.Thr581Ser)
c.1750A>T (p.Thr584Ser)
c.1096A>T (p.Thr366Ser)
c.1540A>T (p.Thr514Ser)
 gnomAD v4
9g.135770043C>ACA375506032KCNT1c.1607C>A (p.Thr536Lys)
c.1448C>A (p.Thr483Lys)
c.1355C>A (p.Thr452Lys)
c.1364C>A (p.Thr455Lys)
c.1508C>A (p.Thr503Lys)
c.*1217C>A (n.*1217C>A)
c.1490C>A (p.Thr497Lys)
c.1550C>A (p.Thr517Lys)
n.1426C>A
c.1472C>A (p.Thr491Lys)
c.1742C>A (p.Thr581Lys)
c.1751C>A (p.Thr584Lys)
c.1097C>A (p.Thr366Lys)
c.1541C>A (p.Thr514Lys)
9g.135770043C=CA1883872590KCNT1c.1607C= (p.Thr536=)
c.1448C= (p.Thr483=)
c.1355C= (p.Thr452=)
c.1364C= (p.Thr455=)
c.1508C= (p.Thr503=)
c.*1217C= (n.*1217C=)
c.1490C= (p.Thr497=)
c.1550C= (p.Thr517=)
n.1426C=
c.1472C= (p.Thr491=)
c.1742C= (p.Thr581=)
c.1751C= (p.Thr584=)
c.1097C= (p.Thr366=)
c.1541C= (p.Thr514=)
9g.135770043C>GCA375506033KCNT1c.1607C>G (p.Thr536Arg)
c.1448C>G (p.Thr483Arg)
c.1355C>G (p.Thr452Arg)
c.1364C>G (p.Thr455Arg)
c.1508C>G (p.Thr503Arg)
c.*1217C>G (n.*1217C>G)
c.1490C>G (p.Thr497Arg)
c.1550C>G (p.Thr517Arg)
n.1426C>G
c.1472C>G (p.Thr491Arg)
c.1742C>G (p.Thr581Arg)
c.1751C>G (p.Thr584Arg)
c.1097C>G (p.Thr366Arg)
c.1541C>G (p.Thr514Arg)
9g.135770043C>TCA375506034KCNT1c.1607C>T (p.Thr536Met)
c.1448C>T (p.Thr483Met)
c.1355C>T (p.Thr452Met)
c.1364C>T (p.Thr455Met)
c.1508C>T (p.Thr503Met)
c.*1217C>T (n.*1217C>T)
c.1490C>T (p.Thr497Met)
c.1550C>T (p.Thr517Met)
n.1426C>T
c.1472C>T (p.Thr491Met)
c.1742C>T (p.Thr581Met)
c.1751C>T (p.Thr584Met)
c.1097C>T (p.Thr366Met)
c.1541C>T (p.Thr514Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135770044G>ACA5326970KCNT1c.1608G>A (p.Thr536=)
c.1449G>A (p.Thr483=)
c.1356G>A (p.Thr452=)
c.1365G>A (p.Thr455=)
c.1509G>A (p.Thr503=)
c.*1218G>A (n.*1218G>A)
c.1491G>A (p.Thr497=)
c.1551G>A (p.Thr517=)
n.1427G>A
c.1473G>A (p.Thr491=)
c.1743G>A (p.Thr581=)
c.1752G>A (p.Thr584=)
c.1098G>A (p.Thr366=)
c.1542G>A (p.Thr514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135770044G>CCA467698435KCNT1c.1608G>C (p.Thr536=)
c.1449G>C (p.Thr483=)
c.1356G>C (p.Thr452=)
c.1365G>C (p.Thr455=)
c.1509G>C (p.Thr503=)
c.*1218G>C (n.*1218G>C)
c.1491G>C (p.Thr497=)
c.1551G>C (p.Thr517=)
n.1427G>C
c.1473G>C (p.Thr491=)
c.1743G>C (p.Thr581=)
c.1752G>C (p.Thr584=)
c.1098G>C (p.Thr366=)
c.1542G>C (p.Thr514=)
 gnomAD v4
9g.135770044G=CA1883872592KCNT1c.1608G= (p.Thr536=)
c.1449G= (p.Thr483=)
c.1356G= (p.Thr452=)
c.1365G= (p.Thr455=)
c.1509G= (p.Thr503=)
c.*1218G= (n.*1218G=)
c.1491G= (p.Thr497=)
c.1551G= (p.Thr517=)
n.1427G=
c.1473G= (p.Thr491=)
c.1743G= (p.Thr581=)
c.1752G= (p.Thr584=)
c.1098G= (p.Thr366=)
c.1542G= (p.Thr514=)
9g.135770044G>TCA467698436KCNT1c.1608G>T (p.Thr536=)
c.1449G>T (p.Thr483=)
c.1356G>T (p.Thr452=)
c.1365G>T (p.Thr455=)
c.1509G>T (p.Thr503=)
c.*1218G>T (n.*1218G>T)
c.1491G>T (p.Thr497=)
c.1551G>T (p.Thr517=)
n.1427G>T
c.1473G>T (p.Thr491=)
c.1743G>T (p.Thr581=)
c.1752G>T (p.Thr584=)
c.1098G>T (p.Thr366=)
c.1542G>T (p.Thr514=)
 dbSNP gnomAD v2
9g.135770045T>ACA375506036KCNT1c.1609T>A (p.Ser537Thr)
c.1450T>A (p.Ser484Thr)
c.1357T>A (p.Ser453Thr)
c.1366T>A (p.Ser456Thr)
c.1510T>A (p.Ser504Thr)
c.*1219T>A (n.*1219T>A)
c.1492T>A (p.Ser498Thr)
c.1552T>A (p.Ser518Thr)
n.1428T>A
c.1474T>A (p.Ser492Thr)
c.1744T>A (p.Ser582Thr)
c.1753T>A (p.Ser585Thr)
c.1099T>A (p.Ser367Thr)
c.1543T>A (p.Ser515Thr)
 ClinVar
9g.135770045T>CCA375506037KCNT1c.1609T>C (p.Ser537Pro)
c.1450T>C (p.Ser484Pro)
c.1357T>C (p.Ser453Pro)
c.1366T>C (p.Ser456Pro)
c.1510T>C (p.Ser504Pro)
c.*1219T>C (n.*1219T>C)
c.1492T>C (p.Ser498Pro)
c.1552T>C (p.Ser518Pro)
n.1428T>C
c.1474T>C (p.Ser492Pro)
c.1744T>C (p.Ser582Pro)
c.1753T>C (p.Ser585Pro)
c.1099T>C (p.Ser367Pro)
c.1543T>C (p.Ser515Pro)
 gnomAD v4
9g.135770045T>GCA375506035KCNT1c.1609T>G (p.Ser537Ala)
c.1450T>G (p.Ser484Ala)
c.1357T>G (p.Ser453Ala)
c.1366T>G (p.Ser456Ala)
c.1510T>G (p.Ser504Ala)
c.*1219T>G (n.*1219T>G)
c.1492T>G (p.Ser498Ala)
c.1552T>G (p.Ser518Ala)
n.1428T>G
c.1474T>G (p.Ser492Ala)
c.1744T>G (p.Ser582Ala)
c.1753T>G (p.Ser585Ala)
c.1099T>G (p.Ser367Ala)
c.1543T>G (p.Ser515Ala)
 dbSNP
9g.135770045T=CA1883872597KCNT1c.1609T= (p.Ser537=)
c.1450T= (p.Ser484=)
c.1357T= (p.Ser453=)
c.1366T= (p.Ser456=)
c.1510T= (p.Ser504=)
c.*1219T= (n.*1219T=)
c.1492T= (p.Ser498=)
c.1552T= (p.Ser518=)
n.1428T=
c.1474T= (p.Ser492=)
c.1744T= (p.Ser582=)
c.1753T= (p.Ser585=)
c.1099T= (p.Ser367=)
c.1543T= (p.Ser515=)
9g.135770046C>ACA375506038KCNT1c.1610C>A (p.Ser537Tyr)
c.1451C>A (p.Ser484Tyr)
c.1358C>A (p.Ser453Tyr)
c.1367C>A (p.Ser456Tyr)
c.1511C>A (p.Ser504Tyr)
c.*1220C>A (n.*1220C>A)
c.1493C>A (p.Ser498Tyr)
c.1553C>A (p.Ser518Tyr)
n.1429C>A
c.1475C>A (p.Ser492Tyr)
c.1745C>A (p.Ser582Tyr)
c.1754C>A (p.Ser585Tyr)
c.1100C>A (p.Ser367Tyr)
c.1544C>A (p.Ser515Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135770046C=CA1883872604KCNT1c.1610C= (p.Ser537=)
c.1451C= (p.Ser484=)
c.1358C= (p.Ser453=)
c.1367C= (p.Ser456=)
c.1511C= (p.Ser504=)
c.*1220C= (n.*1220C=)
c.1493C= (p.Ser498=)
c.1553C= (p.Ser518=)
n.1429C=
c.1475C= (p.Ser492=)
c.1745C= (p.Ser582=)
c.1754C= (p.Ser585=)
c.1100C= (p.Ser367=)
c.1544C= (p.Ser515=)
9g.135770046C>GCA375506039KCNT1c.1610C>G (p.Ser537Cys)
c.1451C>G (p.Ser484Cys)
c.1358C>G (p.Ser453Cys)
c.1367C>G (p.Ser456Cys)
c.1511C>G (p.Ser504Cys)
c.*1220C>G (n.*1220C>G)
c.1493C>G (p.Ser498Cys)
c.1553C>G (p.Ser518Cys)
n.1429C>G
c.1475C>G (p.Ser492Cys)
c.1745C>G (p.Ser582Cys)
c.1754C>G (p.Ser585Cys)
c.1100C>G (p.Ser367Cys)
c.1544C>G (p.Ser515Cys)
9g.135770046C>TCA375506040KCNT1c.1610C>T (p.Ser537Phe)
c.1451C>T (p.Ser484Phe)
c.1358C>T (p.Ser453Phe)
c.1367C>T (p.Ser456Phe)
c.1511C>T (p.Ser504Phe)
c.*1220C>T (n.*1220C>T)
c.1493C>T (p.Ser498Phe)
c.1553C>T (p.Ser518Phe)
n.1429C>T
c.1475C>T (p.Ser492Phe)
c.1745C>T (p.Ser582Phe)
c.1754C>T (p.Ser585Phe)
c.1100C>T (p.Ser367Phe)
c.1544C>T (p.Ser515Phe)
9g.135770047C>ACA467698442KCNT1c.1611C>A (p.Ser537=)
c.1452C>A (p.Ser484=)
c.1359C>A (p.Ser453=)
c.1368C>A (p.Ser456=)
c.1512C>A (p.Ser504=)
c.*1221C>A (n.*1221C>A)
c.1494C>A (p.Ser498=)
c.1554C>A (p.Ser518=)
n.1430C>A
c.1476C>A (p.Ser492=)
c.1746C>A (p.Ser582=)
c.1755C>A (p.Ser585=)
c.1101C>A (p.Ser367=)
c.1545C>A (p.Ser515=)
 gnomAD v4
9g.135770047C>GCA467698441KCNT1c.1611C>G (p.Ser537=)
c.1452C>G (p.Ser484=)
c.1359C>G (p.Ser453=)
c.1368C>G (p.Ser456=)
c.1512C>G (p.Ser504=)
c.*1221C>G (n.*1221C>G)
c.1494C>G (p.Ser498=)
c.1554C>G (p.Ser518=)
n.1430C>G
c.1476C>G (p.Ser492=)
c.1746C>G (p.Ser582=)
c.1755C>G (p.Ser585=)
c.1101C>G (p.Ser367=)
c.1545C>G (p.Ser515=)
 ClinVar dbSNP gnomAD v4
9g.135770047C>TCA467698440KCNT1c.1611C>T (p.Ser537=)
c.1452C>T (p.Ser484=)
c.1359C>T (p.Ser453=)
c.1368C>T (p.Ser456=)
c.1512C>T (p.Ser504=)
c.*1221C>T (n.*1221C>T)
c.1494C>T (p.Ser498=)
c.1554C>T (p.Ser518=)
n.1430C>T
c.1476C>T (p.Ser492=)
c.1746C>T (p.Ser582=)
c.1755C>T (p.Ser585=)
c.1101C>T (p.Ser367=)
c.1545C>T (p.Ser515=)
 gnomAD v4

Number of alleles fetched