WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135769982A= | CA1883872461 | KCNT1 | c.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=) | |
| 9 | g.135769982A>C | CA375505907 | KCNT1 | c.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) | |
| 9 | g.135769982A>G | CA10603124 | KCNT1 | c.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 |
| 9 | g.135769982A>T | CA375505906 | KCNT1 | c.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 |
| 9 | g.135769983T>A | CA375505908 | KCNT1 | c.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) | |
| 9 | g.135769983T>C | CA375505909 | KCNT1 | c.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) | |
| 9 | g.135769983T>G | CA375505910 | KCNT1 | c.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) | |
| 9 | g.135769984G>A | CA375505911 | KCNT1 | c.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 |
| 9 | g.135769984G>C | CA375505912 | KCNT1 | c.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) | |
| 9 | g.135769984G= | CA1883872469 | KCNT1 | c.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=) | |
| 9 | g.135769984G>T | CA375505913 | KCNT1 | c.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 |
| 9 | g.135769985C>A | CA375505915 | KCNT1 | c.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 |
| 9 | g.135769985C= | CA1883872473 | KCNT1 | c.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=) | |
| 9 | g.135769985C>G | CA375505914 | KCNT1 | c.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) | |
| 9 | g.135769985C>T | CA467698388 | KCNT1 | c.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 |
| 9 | g.135769986T>A | CA375505916 | KCNT1 | c.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 |
| 9 | g.135769986T>C | CA375505917 | KCNT1 | c.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 |
| 9 | g.135769986T>G | CA375505918 | KCNT1 | c.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) | |
| 9 | g.135769987G>A | CA467698391 | KCNT1 | c.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=) | |
| 9 | g.135769987G>C | CA467698390 | KCNT1 | c.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=) | |
| 9 | g.135769987G>T | CA467698389 | KCNT1 | c.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 |
| 9 | g.135769988G>A | CA375505919 | KCNT1 | c.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 |
| 9 | g.135769988G>C | CA375505920 | KCNT1 | c.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) | |
| 9 | g.135769988G>T | CA375505921 | KCNT1 | c.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 |
| 9 | g.135769989C>A | CA201472683 | KCNT1 | c.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 |
| 9 | g.135769989C= | CA1883872478 | KCNT1 | c.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=) | |
| 9 | g.135769989C>G | CA375505922 | KCNT1 | c.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) | |
| 9 | g.135769989C>T | CA5326963 | KCNT1 | c.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 |
| 9 | g.135769990G>A | CA5326964 | KCNT1 | c.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 |
| 9 | g.135769990G>C | CA467698392 | KCNT1 | c.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=) | |
| 9 | g.135769990G= | CA1883872484 | KCNT1 | c.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=) | |
| 9 | g.135769990G>T | CA467698393 | KCNT1 | c.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 |
| 9 | g.135769991C>A | CA375505923 | KCNT1 | c.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 |
| 9 | g.135769991C>G | CA375505924 | KCNT1 | c.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) | |
| 9 | g.135769991C>T | CA467698394 | KCNT1 | c.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 |
| 9 | g.135769992T>A | CA375505925 | KCNT1 | c.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) | |
| 9 | g.135769992T>C | CA375505926 | KCNT1 | c.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 |
| 9 | g.135769992T>G | CA375505927 | KCNT1 | c.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) | |
| 9 | g.135769993G>A | CA467698395 | KCNT1 | c.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 |
| 9 | g.135769993G>C | CA467698396 | KCNT1 | c.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 |
| 9 | g.135769993G>T | CA467698397 | KCNT1 | c.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 |
| 9 | g.135769994A>C | CA375505928 | KCNT1 | c.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) | |
| 9 | g.135769994A>G | CA375505929 | KCNT1 | c.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) | |
| 9 | g.135769994A>T | CA375505930 | KCNT1 | c.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) | |
| 9 | g.135769995A>C | CA375505931 | KCNT1 | c.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) | |
| 9 | g.135769995A>G | CA375505932 | KCNT1 | c.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) | |
| 9 | g.135769995A>T | CA375505933 | KCNT1 | c.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) | |
| 9 | g.135769996C>A | CA375505934 | KCNT1 | c.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 |
| 9 | g.135769996C>G | CA375505935 | KCNT1 | c.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 |
| 9 | g.135769996C>T | CA467698398 | KCNT1 | c.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 |