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.135770395C>A | CA375506669 | KCNT1 | c.1717C>A (p.Arg573Ser) c.1558C>A (p.Arg520Ser) c.1465C>A (p.Arg489Ser) c.1474C>A (p.Arg492Ser) c.1618C>A (p.Arg540Ser) c.*1327C>A (n.*1327C>A) c.1600C>A (p.Arg534Ser) c.1660C>A (p.Arg554Ser) n.1536C>A c.1582C>A (p.Arg528Ser) c.1852C>A (p.Arg618Ser) c.1861C>A (p.Arg621Ser) c.1207C>A (p.Arg403Ser) c.1651C>A (p.Arg551Ser) | gnomAD v4 |
| 9 | g.135770395C= | CA1883873519 | KCNT1 | c.1717C= (p.Arg573=) c.1558C= (p.Arg520=) c.1465C= (p.Arg489=) c.1474C= (p.Arg492=) c.1618C= (p.Arg540=) c.*1327C= (n.*1327C=) c.1600C= (p.Arg534=) c.1660C= (p.Arg554=) n.1536C= c.1582C= (p.Arg528=) c.1852C= (p.Arg618=) c.1861C= (p.Arg621=) c.1207C= (p.Arg403=) c.1651C= (p.Arg551=) | |
| 9 | g.135770395C>G | CA375506671 | KCNT1 | c.1717C>G (p.Arg573Gly) c.1558C>G (p.Arg520Gly) c.1465C>G (p.Arg489Gly) c.1474C>G (p.Arg492Gly) c.1618C>G (p.Arg540Gly) c.*1327C>G (n.*1327C>G) c.1600C>G (p.Arg534Gly) c.1660C>G (p.Arg554Gly) n.1536C>G c.1582C>G (p.Arg528Gly) c.1852C>G (p.Arg618Gly) c.1861C>G (p.Arg621Gly) c.1207C>G (p.Arg403Gly) c.1651C>G (p.Arg551Gly) | gnomAD v4 |
| 9 | g.135770395C>T | CA5327039 | KCNT1 | c.1717C>T (p.Arg573Cys) c.1558C>T (p.Arg520Cys) c.1465C>T (p.Arg489Cys) c.1474C>T (p.Arg492Cys) c.1618C>T (p.Arg540Cys) c.*1327C>T (n.*1327C>T) c.1600C>T (p.Arg534Cys) c.1660C>T (p.Arg554Cys) n.1536C>T c.1582C>T (p.Arg528Cys) c.1852C>T (p.Arg618Cys) c.1861C>T (p.Arg621Cys) c.1207C>T (p.Arg403Cys) c.1651C>T (p.Arg551Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135770396G>A | CA5327040 | KCNT1 | c.1718G>A (p.Arg573His) c.1559G>A (p.Arg520His) c.1466G>A (p.Arg489His) c.1475G>A (p.Arg492His) c.1619G>A (p.Arg540His) c.*1328G>A (n.*1328G>A) c.1601G>A (p.Arg534His) c.1661G>A (p.Arg554His) n.1537G>A c.1583G>A (p.Arg528His) c.1853G>A (p.Arg618His) c.1862G>A (p.Arg621His) c.1208G>A (p.Arg403His) c.1652G>A (p.Arg551His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135770396G>C | CA375506675 | KCNT1 | c.1718G>C (p.Arg573Pro) c.1559G>C (p.Arg520Pro) c.1466G>C (p.Arg489Pro) c.1475G>C (p.Arg492Pro) c.1619G>C (p.Arg540Pro) c.*1328G>C (n.*1328G>C) c.1601G>C (p.Arg534Pro) c.1661G>C (p.Arg554Pro) n.1537G>C c.1583G>C (p.Arg528Pro) c.1853G>C (p.Arg618Pro) c.1862G>C (p.Arg621Pro) c.1208G>C (p.Arg403Pro) c.1652G>C (p.Arg551Pro) | |
| 9 | g.135770396G= | CA1883873523 | KCNT1 | c.1718G= (p.Arg573=) c.1559G= (p.Arg520=) c.1466G= (p.Arg489=) c.1475G= (p.Arg492=) c.1619G= (p.Arg540=) c.*1328G= (n.*1328G=) c.1601G= (p.Arg534=) c.1661G= (p.Arg554=) n.1537G= c.1583G= (p.Arg528=) c.1853G= (p.Arg618=) c.1862G= (p.Arg621=) c.1208G= (p.Arg403=) c.1652G= (p.Arg551=) | |
| 9 | g.135770396G>T | CA375506676 | KCNT1 | c.1718G>T (p.Arg573Leu) c.1559G>T (p.Arg520Leu) c.1466G>T (p.Arg489Leu) c.1475G>T (p.Arg492Leu) c.1619G>T (p.Arg540Leu) c.*1328G>T (n.*1328G>T) c.1601G>T (p.Arg534Leu) c.1661G>T (p.Arg554Leu) n.1537G>T c.1583G>T (p.Arg528Leu) c.1853G>T (p.Arg618Leu) c.1862G>T (p.Arg621Leu) c.1208G>T (p.Arg403Leu) c.1652G>T (p.Arg551Leu) | |
| 9 | g.135770397C>A | CA467698541 | KCNT1 | c.1719C>A (p.Arg573=) c.1560C>A (p.Arg520=) c.1467C>A (p.Arg489=) c.1476C>A (p.Arg492=) c.1620C>A (p.Arg540=) c.*1329C>A (n.*1329C>A) c.1602C>A (p.Arg534=) c.1662C>A (p.Arg554=) n.1538C>A c.1584C>A (p.Arg528=) c.1854C>A (p.Arg618=) c.1863C>A (p.Arg621=) c.1209C>A (p.Arg403=) c.1653C>A (p.Arg551=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135770397C= | CA1883873533 | KCNT1 | c.1719C= (p.Arg573=) c.1560C= (p.Arg520=) c.1467C= (p.Arg489=) c.1476C= (p.Arg492=) c.1620C= (p.Arg540=) c.*1329C= (n.*1329C=) c.1602C= (p.Arg534=) c.1662C= (p.Arg554=) n.1538C= c.1584C= (p.Arg528=) c.1854C= (p.Arg618=) c.1863C= (p.Arg621=) c.1209C= (p.Arg403=) c.1653C= (p.Arg551=) | |
| 9 | g.135770397C>G | CA467698542 | KCNT1 | c.1719C>G (p.Arg573=) c.1560C>G (p.Arg520=) c.1467C>G (p.Arg489=) c.1476C>G (p.Arg492=) c.1620C>G (p.Arg540=) c.*1329C>G (n.*1329C>G) c.1602C>G (p.Arg534=) c.1662C>G (p.Arg554=) n.1538C>G c.1584C>G (p.Arg528=) c.1854C>G (p.Arg618=) c.1863C>G (p.Arg621=) c.1209C>G (p.Arg403=) c.1653C>G (p.Arg551=) | |
| 9 | g.135770397C>T | CA467698543 | KCNT1 | c.1719C>T (p.Arg573=) c.1560C>T (p.Arg520=) c.1467C>T (p.Arg489=) c.1476C>T (p.Arg492=) c.1620C>T (p.Arg540=) c.*1329C>T (n.*1329C>T) c.1602C>T (p.Arg534=) c.1662C>T (p.Arg554=) n.1538C>T c.1584C>T (p.Arg528=) c.1854C>T (p.Arg618=) c.1863C>T (p.Arg621=) c.1209C>T (p.Arg403=) c.1653C>T (p.Arg551=) | ClinVar gnomAD v4 |
| 9 | g.135770397_135770398delinsCG | CA1883873532 | KCNT1 | c.1719_1720delinsCG (p.Arg573=) c.1560_1561delinsCG (p.Arg520=) c.1467_1468delinsCG (p.Arg489=) c.1476_1477delinsCG (p.Arg492=) c.1620_1621delinsCG (p.Arg540=) c.*1329_*1330delinsCG (n.*1329_*1330delinsCG) c.1602_1603delinsCG (p.Arg534=) c.1662_1663delinsCG (p.Arg554=) n.1538_1539delinsCG c.1584_1585delinsCG (p.Arg528=) c.1854_1855delinsCG (p.Arg618=) c.1863_1864delinsCG (p.Arg621=) c.1209_1210delinsCG (p.Arg403=) c.1653_1654delinsCG (p.Arg551=) | |
| 9 | g.135770398del | CA645369462 | KCNT1 | c.1720del (p.Glu574SerfsTer25) c.1561del (p.Glu521SerfsTer25) c.1468del (p.Glu490SerfsTer25) c.1477del (p.Glu493SerfsTer25) c.1621del (p.Glu541SerfsTer25) c.*1330del (n.*1330del) c.1603del (p.Glu535SerfsTer25) c.1663del (p.Glu555SerfsTer25) n.1539del c.1585del (p.Glu529SerfsTer25) c.1855del (p.Glu619SerfsTer25) c.1864del (p.Glu622SerfsTer25) c.1210del (p.Glu404SerfsTer25) c.1654del (p.Glu552SerfsTer25) | ClinVar dbSNP |
| 9 | g.135770398G>A | CA375506680 | KCNT1 | c.1720G>A (p.Glu574Lys) c.1561G>A (p.Glu521Lys) c.1468G>A (p.Glu490Lys) c.1477G>A (p.Glu493Lys) c.1621G>A (p.Glu541Lys) c.*1330G>A (n.*1330G>A) c.1603G>A (p.Glu535Lys) c.1663G>A (p.Glu555Lys) n.1539G>A c.1585G>A (p.Glu529Lys) c.1855G>A (p.Glu619Lys) c.1864G>A (p.Glu622Lys) c.1210G>A (p.Glu404Lys) c.1654G>A (p.Glu552Lys) | gnomAD v4 |
| 9 | g.135770398G>C | CA375506681 | KCNT1 | c.1720G>C (p.Glu574Gln) c.1561G>C (p.Glu521Gln) c.1468G>C (p.Glu490Gln) c.1477G>C (p.Glu493Gln) c.1621G>C (p.Glu541Gln) c.*1330G>C (n.*1330G>C) c.1603G>C (p.Glu535Gln) c.1663G>C (p.Glu555Gln) n.1539G>C c.1585G>C (p.Glu529Gln) c.1855G>C (p.Glu619Gln) c.1864G>C (p.Glu622Gln) c.1210G>C (p.Glu404Gln) c.1654G>C (p.Glu552Gln) | |
| 9 | g.135770398G>T | CA375506679 | KCNT1 | c.1720G>T (p.Glu574Ter) c.1561G>T (p.Glu521Ter) c.1468G>T (p.Glu490Ter) c.1477G>T (p.Glu493Ter) c.1621G>T (p.Glu541Ter) c.*1330G>T (n.*1330G>T) c.1603G>T (p.Glu535Ter) c.1663G>T (p.Glu555Ter) n.1539G>T c.1585G>T (p.Glu529Ter) c.1855G>T (p.Glu619Ter) c.1864G>T (p.Glu622Ter) c.1210G>T (p.Glu404Ter) c.1654G>T (p.Glu552Ter) | |
| 9 | g.135770399A>C | CA375506685 | KCNT1 | c.1721A>C (p.Glu574Ala) c.1562A>C (p.Glu521Ala) c.1469A>C (p.Glu490Ala) c.1478A>C (p.Glu493Ala) c.1622A>C (p.Glu541Ala) c.*1331A>C (n.*1331A>C) c.1604A>C (p.Glu535Ala) c.1664A>C (p.Glu555Ala) n.1540A>C c.1586A>C (p.Glu529Ala) c.1856A>C (p.Glu619Ala) c.1865A>C (p.Glu622Ala) c.1211A>C (p.Glu404Ala) c.1655A>C (p.Glu552Ala) | |
| 9 | g.135770399A>G | CA375506682 | KCNT1 | c.1721A>G (p.Glu574Gly) c.1562A>G (p.Glu521Gly) c.1469A>G (p.Glu490Gly) c.1478A>G (p.Glu493Gly) c.1622A>G (p.Glu541Gly) c.*1331A>G (n.*1331A>G) c.1604A>G (p.Glu535Gly) c.1664A>G (p.Glu555Gly) n.1540A>G c.1586A>G (p.Glu529Gly) c.1856A>G (p.Glu619Gly) c.1865A>G (p.Glu622Gly) c.1211A>G (p.Glu404Gly) c.1655A>G (p.Glu552Gly) | |
| 9 | g.135770399A>T | CA375506684 | KCNT1 | c.1721A>T (p.Glu574Val) c.1562A>T (p.Glu521Val) c.1469A>T (p.Glu490Val) c.1478A>T (p.Glu493Val) c.1622A>T (p.Glu541Val) c.*1331A>T (n.*1331A>T) c.1604A>T (p.Glu535Val) c.1664A>T (p.Glu555Val) n.1540A>T c.1586A>T (p.Glu529Val) c.1856A>T (p.Glu619Val) c.1865A>T (p.Glu622Val) c.1211A>T (p.Glu404Val) c.1655A>T (p.Glu552Val) | |
| 9 | g.135770400G>A | CA467698546 | KCNT1 | c.1722G>A (p.Glu574=) c.1563G>A (p.Glu521=) c.1470G>A (p.Glu490=) c.1479G>A (p.Glu493=) c.1623G>A (p.Glu541=) c.*1332G>A (n.*1332G>A) c.1605G>A (p.Glu535=) c.1665G>A (p.Glu555=) n.1541G>A c.1587G>A (p.Glu529=) c.1857G>A (p.Glu619=) c.1866G>A (p.Glu622=) c.1212G>A (p.Glu404=) c.1656G>A (p.Glu552=) | |
| 9 | g.135770400G>C | CA375506687 | KCNT1 | c.1722G>C (p.Glu574Asp) c.1563G>C (p.Glu521Asp) c.1470G>C (p.Glu490Asp) c.1479G>C (p.Glu493Asp) c.1623G>C (p.Glu541Asp) c.*1332G>C (n.*1332G>C) c.1605G>C (p.Glu535Asp) c.1665G>C (p.Glu555Asp) n.1541G>C c.1587G>C (p.Glu529Asp) c.1857G>C (p.Glu619Asp) c.1866G>C (p.Glu622Asp) c.1212G>C (p.Glu404Asp) c.1656G>C (p.Glu552Asp) | |
| 9 | g.135770400G>T | CA375506689 | KCNT1 | c.1722G>T (p.Glu574Asp) c.1563G>T (p.Glu521Asp) c.1470G>T (p.Glu490Asp) c.1479G>T (p.Glu493Asp) c.1623G>T (p.Glu541Asp) c.*1332G>T (n.*1332G>T) c.1605G>T (p.Glu535Asp) c.1665G>T (p.Glu555Asp) n.1541G>T c.1587G>T (p.Glu529Asp) c.1857G>T (p.Glu619Asp) c.1866G>T (p.Glu622Asp) c.1212G>T (p.Glu404Asp) c.1656G>T (p.Glu552Asp) | |
| 9 | g.135770401T>A | CA375506692 | KCNT1 | c.1723T>A (p.Tyr575Asn) c.1564T>A (p.Tyr522Asn) c.1471T>A (p.Tyr491Asn) c.1480T>A (p.Tyr494Asn) c.1624T>A (p.Tyr542Asn) c.*1333T>A (n.*1333T>A) c.1606T>A (p.Tyr536Asn) c.1666T>A (p.Tyr556Asn) n.1542T>A c.1588T>A (p.Tyr530Asn) c.1858T>A (p.Tyr620Asn) c.1867T>A (p.Tyr623Asn) c.1213T>A (p.Tyr405Asn) c.1657T>A (p.Tyr553Asn) | |
| 9 | g.135770401T>C | CA375506693 | KCNT1 | c.1723T>C (p.Tyr575His) c.1564T>C (p.Tyr522His) c.1471T>C (p.Tyr491His) c.1480T>C (p.Tyr494His) c.1624T>C (p.Tyr542His) c.*1333T>C (n.*1333T>C) c.1606T>C (p.Tyr536His) c.1666T>C (p.Tyr556His) n.1542T>C c.1588T>C (p.Tyr530His) c.1858T>C (p.Tyr620His) c.1867T>C (p.Tyr623His) c.1213T>C (p.Tyr405His) c.1657T>C (p.Tyr553His) | |
| 9 | g.135770401T>G | CA375506694 | KCNT1 | c.1723T>G (p.Tyr575Asp) c.1564T>G (p.Tyr522Asp) c.1471T>G (p.Tyr491Asp) c.1480T>G (p.Tyr494Asp) c.1624T>G (p.Tyr542Asp) c.*1333T>G (n.*1333T>G) c.1606T>G (p.Tyr536Asp) c.1666T>G (p.Tyr556Asp) n.1542T>G c.1588T>G (p.Tyr530Asp) c.1858T>G (p.Tyr620Asp) c.1867T>G (p.Tyr623Asp) c.1213T>G (p.Tyr405Asp) c.1657T>G (p.Tyr553Asp) | |
| 9 | g.135770402A>C | CA375506695 | KCNT1 | c.1724A>C (p.Tyr575Ser) c.1565A>C (p.Tyr522Ser) c.1472A>C (p.Tyr491Ser) c.1481A>C (p.Tyr494Ser) c.1625A>C (p.Tyr542Ser) c.*1334A>C (n.*1334A>C) c.1607A>C (p.Tyr536Ser) c.1667A>C (p.Tyr556Ser) n.1543A>C c.1589A>C (p.Tyr530Ser) c.1859A>C (p.Tyr620Ser) c.1868A>C (p.Tyr623Ser) c.1214A>C (p.Tyr405Ser) c.1658A>C (p.Tyr553Ser) | |
| 9 | g.135770402A>G | CA375506697 | KCNT1 | c.1724A>G (p.Tyr575Cys) c.1565A>G (p.Tyr522Cys) c.1472A>G (p.Tyr491Cys) c.1481A>G (p.Tyr494Cys) c.1625A>G (p.Tyr542Cys) c.*1334A>G (n.*1334A>G) c.1607A>G (p.Tyr536Cys) c.1667A>G (p.Tyr556Cys) n.1543A>G c.1589A>G (p.Tyr530Cys) c.1859A>G (p.Tyr620Cys) c.1868A>G (p.Tyr623Cys) c.1214A>G (p.Tyr405Cys) c.1658A>G (p.Tyr553Cys) | gnomAD v4 |
| 9 | g.135770402A>T | CA375506699 | KCNT1 | c.1724A>T (p.Tyr575Phe) c.1565A>T (p.Tyr522Phe) c.1472A>T (p.Tyr491Phe) c.1481A>T (p.Tyr494Phe) c.1625A>T (p.Tyr542Phe) c.*1334A>T (n.*1334A>T) c.1607A>T (p.Tyr536Phe) c.1667A>T (p.Tyr556Phe) n.1543A>T c.1589A>T (p.Tyr530Phe) c.1859A>T (p.Tyr620Phe) c.1868A>T (p.Tyr623Phe) c.1214A>T (p.Tyr405Phe) c.1658A>T (p.Tyr553Phe) | |
| 9 | g.135770403C>A | CA375506702 | KCNT1 | c.1725C>A (p.Tyr575Ter) c.1566C>A (p.Tyr522Ter) c.1473C>A (p.Tyr491Ter) c.1482C>A (p.Tyr494Ter) c.1626C>A (p.Tyr542Ter) c.*1335C>A (n.*1335C>A) c.1608C>A (p.Tyr536Ter) c.1668C>A (p.Tyr556Ter) n.1544C>A c.1590C>A (p.Tyr530Ter) c.1860C>A (p.Tyr620Ter) c.1869C>A (p.Tyr623Ter) c.1215C>A (p.Tyr405Ter) c.1659C>A (p.Tyr553Ter) | |
| 9 | g.135770403C= | CA1883873544 | KCNT1 | c.1725C= (p.Tyr575=) c.1566C= (p.Tyr522=) c.1473C= (p.Tyr491=) c.1482C= (p.Tyr494=) c.1626C= (p.Tyr542=) c.*1335C= (n.*1335C=) c.1608C= (p.Tyr536=) c.1668C= (p.Tyr556=) n.1544C= c.1590C= (p.Tyr530=) c.1860C= (p.Tyr620=) c.1869C= (p.Tyr623=) c.1215C= (p.Tyr405=) c.1659C= (p.Tyr553=) | |
| 9 | g.135770403C>G | CA375506704 | KCNT1 | c.1725C>G (p.Tyr575Ter) c.1566C>G (p.Tyr522Ter) c.1473C>G (p.Tyr491Ter) c.1482C>G (p.Tyr494Ter) c.1626C>G (p.Tyr542Ter) c.*1335C>G (n.*1335C>G) c.1608C>G (p.Tyr536Ter) c.1668C>G (p.Tyr556Ter) n.1544C>G c.1590C>G (p.Tyr530Ter) c.1860C>G (p.Tyr620Ter) c.1869C>G (p.Tyr623Ter) c.1215C>G (p.Tyr405Ter) c.1659C>G (p.Tyr553Ter) | gnomAD v4 |
| 9 | g.135770403C>T | CA5327041 | KCNT1 | c.1725C>T (p.Tyr575=) c.1566C>T (p.Tyr522=) c.1473C>T (p.Tyr491=) c.1482C>T (p.Tyr494=) c.1626C>T (p.Tyr542=) c.*1335C>T (n.*1335C>T) c.1608C>T (p.Tyr536=) c.1668C>T (p.Tyr556=) n.1544C>T c.1590C>T (p.Tyr530=) c.1860C>T (p.Tyr620=) c.1869C>T (p.Tyr623=) c.1215C>T (p.Tyr405=) c.1659C>T (p.Tyr553=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135770404G>A | CA240952 | KCNT1 | c.1726G>A (p.Glu576Lys) c.1567G>A (p.Glu523Lys) c.1474G>A (p.Glu492Lys) c.1483G>A (p.Glu495Lys) c.1627G>A (p.Glu543Lys) c.*1336G>A (n.*1336G>A) c.1609G>A (p.Glu537Lys) c.1669G>A (p.Glu557Lys) n.1545G>A c.1591G>A (p.Glu531Lys) c.1861G>A (p.Glu621Lys) c.1870G>A (p.Glu624Lys) c.1216G>A (p.Glu406Lys) c.1660G>A (p.Glu554Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135770404G>C | CA375506707 | KCNT1 | c.1726G>C (p.Glu576Gln) c.1567G>C (p.Glu523Gln) c.1474G>C (p.Glu492Gln) c.1483G>C (p.Glu495Gln) c.1627G>C (p.Glu543Gln) c.*1336G>C (n.*1336G>C) c.1609G>C (p.Glu537Gln) c.1669G>C (p.Glu557Gln) n.1545G>C c.1591G>C (p.Glu531Gln) c.1861G>C (p.Glu621Gln) c.1870G>C (p.Glu624Gln) c.1216G>C (p.Glu406Gln) c.1660G>C (p.Glu554Gln) | |
| 9 | g.135770404G= | CA1883873552 | KCNT1 | c.1726G= (p.Glu576=) c.1567G= (p.Glu523=) c.1474G= (p.Glu492=) c.1483G= (p.Glu495=) c.1627G= (p.Glu543=) c.*1336G= (n.*1336G=) c.1609G= (p.Glu537=) c.1669G= (p.Glu557=) n.1545G= c.1591G= (p.Glu531=) c.1861G= (p.Glu621=) c.1870G= (p.Glu624=) c.1216G= (p.Glu406=) c.1660G= (p.Glu554=) | |
| 9 | g.135770404G>T | CA375506709 | KCNT1 | c.1726G>T (p.Glu576Ter) c.1567G>T (p.Glu523Ter) c.1474G>T (p.Glu492Ter) c.1483G>T (p.Glu495Ter) c.1627G>T (p.Glu543Ter) c.*1336G>T (n.*1336G>T) c.1609G>T (p.Glu537Ter) c.1669G>T (p.Glu557Ter) n.1545G>T c.1591G>T (p.Glu531Ter) c.1861G>T (p.Glu621Ter) c.1870G>T (p.Glu624Ter) c.1216G>T (p.Glu406Ter) c.1660G>T (p.Glu554Ter) | |
| 9 | g.135770405A>C | CA375506712 | KCNT1 | c.1727A>C (p.Glu576Ala) c.1568A>C (p.Glu523Ala) c.1475A>C (p.Glu492Ala) c.1484A>C (p.Glu495Ala) c.1628A>C (p.Glu543Ala) c.*1337A>C (n.*1337A>C) c.1610A>C (p.Glu537Ala) c.1670A>C (p.Glu557Ala) n.1546A>C c.1592A>C (p.Glu531Ala) c.1862A>C (p.Glu621Ala) c.1871A>C (p.Glu624Ala) c.1217A>C (p.Glu406Ala) c.1661A>C (p.Glu554Ala) | |
| 9 | g.135770405A>G | CA375506714 | KCNT1 | c.1727A>G (p.Glu576Gly) c.1568A>G (p.Glu523Gly) c.1475A>G (p.Glu492Gly) c.1484A>G (p.Glu495Gly) c.1628A>G (p.Glu543Gly) c.*1337A>G (n.*1337A>G) c.1610A>G (p.Glu537Gly) c.1670A>G (p.Glu557Gly) n.1546A>G c.1592A>G (p.Glu531Gly) c.1862A>G (p.Glu621Gly) c.1871A>G (p.Glu624Gly) c.1217A>G (p.Glu406Gly) c.1661A>G (p.Glu554Gly) | |
| 9 | g.135770405A>T | CA375506716 | KCNT1 | c.1727A>T (p.Glu576Val) c.1568A>T (p.Glu523Val) c.1475A>T (p.Glu492Val) c.1484A>T (p.Glu495Val) c.1628A>T (p.Glu543Val) c.*1337A>T (n.*1337A>T) c.1610A>T (p.Glu537Val) c.1670A>T (p.Glu557Val) n.1546A>T c.1592A>T (p.Glu531Val) c.1862A>T (p.Glu621Val) c.1871A>T (p.Glu624Val) c.1217A>T (p.Glu406Val) c.1661A>T (p.Glu554Val) | |
| 9 | g.135770406G>A | CA467698549 | KCNT1 | c.1728G>A (p.Glu576=) c.1569G>A (p.Glu523=) c.1476G>A (p.Glu492=) c.1485G>A (p.Glu495=) c.1629G>A (p.Glu543=) c.*1338G>A (n.*1338G>A) c.1611G>A (p.Glu537=) c.1671G>A (p.Glu557=) n.1547G>A c.1593G>A (p.Glu531=) c.1863G>A (p.Glu621=) c.1872G>A (p.Glu624=) c.1218G>A (p.Glu406=) c.1662G>A (p.Glu554=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135770406G>C | CA375506718 | KCNT1 | c.1728G>C (p.Glu576Asp) c.1569G>C (p.Glu523Asp) c.1476G>C (p.Glu492Asp) c.1485G>C (p.Glu495Asp) c.1629G>C (p.Glu543Asp) c.*1338G>C (n.*1338G>C) c.1611G>C (p.Glu537Asp) c.1671G>C (p.Glu557Asp) n.1547G>C c.1593G>C (p.Glu531Asp) c.1863G>C (p.Glu621Asp) c.1872G>C (p.Glu624Asp) c.1218G>C (p.Glu406Asp) c.1662G>C (p.Glu554Asp) | |
| 9 | g.135770406G= | CA1883873560 | KCNT1 | c.1728G= (p.Glu576=) c.1569G= (p.Glu523=) c.1476G= (p.Glu492=) c.1485G= (p.Glu495=) c.1629G= (p.Glu543=) c.*1338G= (n.*1338G=) c.1611G= (p.Glu537=) c.1671G= (p.Glu557=) n.1547G= c.1593G= (p.Glu531=) c.1863G= (p.Glu621=) c.1872G= (p.Glu624=) c.1218G= (p.Glu406=) c.1662G= (p.Glu554=) | |
| 9 | g.135770406G>T | CA375506719 | KCNT1 | c.1728G>T (p.Glu576Asp) c.1569G>T (p.Glu523Asp) c.1476G>T (p.Glu492Asp) c.1485G>T (p.Glu495Asp) c.1629G>T (p.Glu543Asp) c.*1338G>T (n.*1338G>T) c.1611G>T (p.Glu537Asp) c.1671G>T (p.Glu557Asp) n.1547G>T c.1593G>T (p.Glu531Asp) c.1863G>T (p.Glu621Asp) c.1872G>T (p.Glu624Asp) c.1218G>T (p.Glu406Asp) c.1662G>T (p.Glu554Asp) | gnomAD v4 |
| 9 | g.135770407G>A | CA375506721 | KCNT1 | c.1729G>A (p.Gly577Ser) c.1570G>A (p.Gly524Ser) c.1477G>A (p.Gly493Ser) c.1486G>A (p.Gly496Ser) c.1630G>A (p.Gly544Ser) c.*1339G>A (n.*1339G>A) c.1612G>A (p.Gly538Ser) c.1672G>A (p.Gly558Ser) n.1548G>A c.1594G>A (p.Gly532Ser) c.1864G>A (p.Gly622Ser) c.1873G>A (p.Gly625Ser) c.1219G>A (p.Gly407Ser) c.1663G>A (p.Gly555Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135770407G>C | CA375506723 | KCNT1 | c.1729G>C (p.Gly577Arg) c.1570G>C (p.Gly524Arg) c.1477G>C (p.Gly493Arg) c.1486G>C (p.Gly496Arg) c.1630G>C (p.Gly544Arg) c.*1339G>C (n.*1339G>C) c.1612G>C (p.Gly538Arg) c.1672G>C (p.Gly558Arg) n.1548G>C c.1594G>C (p.Gly532Arg) c.1864G>C (p.Gly622Arg) c.1873G>C (p.Gly625Arg) c.1219G>C (p.Gly407Arg) c.1663G>C (p.Gly555Arg) | |
| 9 | g.135770407G= | CA1883873563 | KCNT1 | c.1729G= (p.Gly577=) c.1570G= (p.Gly524=) c.1477G= (p.Gly493=) c.1486G= (p.Gly496=) c.1630G= (p.Gly544=) c.*1339G= (n.*1339G=) c.1612G= (p.Gly538=) c.1672G= (p.Gly558=) n.1548G= c.1594G= (p.Gly532=) c.1864G= (p.Gly622=) c.1873G= (p.Gly625=) c.1219G= (p.Gly407=) c.1663G= (p.Gly555=) | |
| 9 | g.135770407G>T | CA375506725 | KCNT1 | c.1729G>T (p.Gly577Cys) c.1570G>T (p.Gly524Cys) c.1477G>T (p.Gly493Cys) c.1486G>T (p.Gly496Cys) c.1630G>T (p.Gly544Cys) c.*1339G>T (n.*1339G>T) c.1612G>T (p.Gly538Cys) c.1672G>T (p.Gly558Cys) n.1548G>T c.1594G>T (p.Gly532Cys) c.1864G>T (p.Gly622Cys) c.1873G>T (p.Gly625Cys) c.1219G>T (p.Gly407Cys) c.1663G>T (p.Gly555Cys) | |
| 9 | g.135770408G>A | CA375506727 | KCNT1 | c.1730G>A (p.Gly577Asp) c.1571G>A (p.Gly524Asp) c.1478G>A (p.Gly493Asp) c.1487G>A (p.Gly496Asp) c.1631G>A (p.Gly544Asp) c.*1340G>A (n.*1340G>A) c.1613G>A (p.Gly538Asp) c.1673G>A (p.Gly558Asp) n.1549G>A c.1595G>A (p.Gly532Asp) c.1865G>A (p.Gly622Asp) c.1874G>A (p.Gly625Asp) c.1220G>A (p.Gly407Asp) c.1664G>A (p.Gly555Asp) | gnomAD v4 |
| 9 | g.135770408G>C | CA375506728 | KCNT1 | c.1730G>C (p.Gly577Ala) c.1571G>C (p.Gly524Ala) c.1478G>C (p.Gly493Ala) c.1487G>C (p.Gly496Ala) c.1631G>C (p.Gly544Ala) c.*1340G>C (n.*1340G>C) c.1613G>C (p.Gly538Ala) c.1673G>C (p.Gly558Ala) n.1549G>C c.1595G>C (p.Gly532Ala) c.1865G>C (p.Gly622Ala) c.1874G>C (p.Gly625Ala) c.1220G>C (p.Gly407Ala) c.1664G>C (p.Gly555Ala) |