Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604586G>A | CA10360401 | CDKL5 | c.1662G>A (p.Thr554=) c.1611G>A (p.Thr537=) c.1530G>A (p.Thr510=) n.1914G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604586G>C | CA515627884 | CDKL5 | c.1662G>C (p.Thr554=) c.1611G>C (p.Thr537=) c.1530G>C (p.Thr510=) n.1914G>C | |
X | g.18604586G= | CA2417974454 | CDKL5 | c.1662G= (p.Thr554=) c.1611G= (p.Thr537=) c.1530G= (p.Thr510=) n.1914G= | |
X | g.18604586G>T | CA515627883 | CDKL5 | c.1662G>T (p.Thr554=) c.1611G>T (p.Thr537=) c.1530G>T (p.Thr510=) n.1914G>T | dbSNP |
X | g.18604587C>A | CA412362172 | CDKL5 | c.1663C>A (p.Leu555Met) c.1612C>A (p.Leu538Met) c.1531C>A (p.Leu511Met) n.1915C>A | |
X | g.18604587C= | CA2417974455 | CDKL5 | c.1663C= (p.Leu555=) c.1612C= (p.Leu538=) c.1531C= (p.Leu511=) n.1915C= | |
X | g.18604587C>G | CA412362175 | CDKL5 | c.1663C>G (p.Leu555Val) c.1612C>G (p.Leu538Val) c.1531C>G (p.Leu511Val) n.1915C>G | |
X | g.18604587C>T | CA10360402 | CDKL5 | c.1663C>T (p.Leu555=) c.1612C>T (p.Leu538=) c.1531C>T (p.Leu511=) n.1915C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604588T>A | CA412362177 | CDKL5 | c.1664T>A (p.Leu555Gln) c.1613T>A (p.Leu538Gln) c.1532T>A (p.Leu511Gln) n.1916T>A | |
X | g.18604588T>C | CA412362179 | CDKL5 | c.1664T>C (p.Leu555Pro) c.1613T>C (p.Leu538Pro) c.1532T>C (p.Leu511Pro) n.1916T>C | gnomAD v4 |
X | g.18604588T>G | CA412362181 | CDKL5 | c.1664T>G (p.Leu555Arg) c.1613T>G (p.Leu538Arg) c.1532T>G (p.Leu511Arg) n.1916T>G | |
X | g.18604589G>A | CA515627887 | CDKL5 | c.1665G>A (p.Leu555=) c.1614G>A (p.Leu538=) c.1533G>A (p.Leu511=) n.1917G>A | |
X | g.18604589G>C | CA515627886 | CDKL5 | c.1665G>C (p.Leu555=) c.1614G>C (p.Leu538=) c.1533G>C (p.Leu511=) n.1917G>C | |
X | g.18604589G>T | CA515627885 | CDKL5 | c.1665G>T (p.Leu555=) c.1614G>T (p.Leu538=) c.1533G>T (p.Leu511=) n.1917G>T | |
X | g.18604590G>A | CA412362183 | CDKL5 | c.1666G>A (p.Asp556Asn) c.1615G>A (p.Asp539Asn) c.1534G>A (p.Asp512Asn) n.1918G>A | |
X | g.18604590G>C | CA412362185 | CDKL5 | c.1666G>C (p.Asp556His) c.1615G>C (p.Asp539His) c.1534G>C (p.Asp512His) n.1918G>C | |
X | g.18604590G>T | CA412362187 | CDKL5 | c.1666G>T (p.Asp556Tyr) c.1615G>T (p.Asp539Tyr) c.1534G>T (p.Asp512Tyr) n.1918G>T | |
X | g.18604591A>C | CA412362189 | CDKL5 | c.1667A>C (p.Asp556Ala) c.1616A>C (p.Asp539Ala) c.1535A>C (p.Asp512Ala) n.1919A>C | |
X | g.18604591A>G | CA412362191 | CDKL5 | c.1667A>G (p.Asp556Gly) c.1616A>G (p.Asp539Gly) c.1535A>G (p.Asp512Gly) n.1919A>G | ClinVar dbSNP |
X | g.18604591A>T | CA412362194 | CDKL5 | c.1667A>T (p.Asp556Val) c.1616A>T (p.Asp539Val) c.1535A>T (p.Asp512Val) n.1919A>T | |
X | g.18604592C>A | CA412362197 | CDKL5 | c.1668C>A (p.Asp556Glu) c.1617C>A (p.Asp539Glu) c.1536C>A (p.Asp512Glu) n.1920C>A | |
X | g.18604592C>G | CA412362199 | CDKL5 | c.1668C>G (p.Asp556Glu) c.1617C>G (p.Asp539Glu) c.1536C>G (p.Asp512Glu) n.1920C>G | |
X | g.18604592C>T | CA515627888 | CDKL5 | c.1668C>T (p.Asp556=) c.1617C>T (p.Asp539=) c.1536C>T (p.Asp512=) n.1920C>T | |
X | g.18604593T>A | CA412362203 | CDKL5 | c.1669T>A (p.Ser557Thr) c.1618T>A (p.Ser540Thr) c.1537T>A (p.Ser513Thr) n.1921T>A | |
X | g.18604593T>C | CA412362205 | CDKL5 | c.1669T>C (p.Ser557Pro) c.1618T>C (p.Ser540Pro) c.1537T>C (p.Ser513Pro) n.1921T>C | |
X | g.18604593T>G | CA412362201 | CDKL5 | c.1669T>G (p.Ser557Ala) c.1618T>G (p.Ser540Ala) c.1537T>G (p.Ser513Ala) n.1921T>G | |
X | g.18604594C>A | CA412362207 | CDKL5 | c.1670C>A (p.Ser557Ter) c.1619C>A (p.Ser540Ter) c.1538C>A (p.Ser513Ter) n.1922C>A | |
X | g.18604594C= | CA2417974456 | CDKL5 | c.1670C= (p.Ser557=) c.1619C= (p.Ser540=) c.1538C= (p.Ser513=) n.1922C= | |
X | g.18604594C>G | CA294732 | CDKL5 | c.1670C>G (p.Ser557Ter) c.1619C>G (p.Ser540Ter) c.1538C>G (p.Ser513Ter) n.1922C>G | ClinVar dbSNP |
X | g.18604594C>T | CA412362210 | CDKL5 | c.1670C>T (p.Ser557Leu) c.1619C>T (p.Ser540Leu) c.1538C>T (p.Ser513Leu) n.1922C>T | |
X | g.18604595A= | CA2417974457 | CDKL5 | c.1671A= (p.Ser557=) c.1620A= (p.Ser540=) c.1539A= (p.Ser513=) n.1923A= | |
X | g.18604595A>C | CA326987859 | CDKL5 | c.1671A>C (p.Ser557=) c.1620A>C (p.Ser540=) c.1539A>C (p.Ser513=) n.1923A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604595A>G | CA515627889 | CDKL5 | c.1671A>G (p.Ser557=) c.1620A>G (p.Ser540=) c.1539A>G (p.Ser513=) n.1923A>G | COSMIC |
X | g.18604595A>T | CA515627890 | CDKL5 | c.1671A>T (p.Ser557=) c.1620A>T (p.Ser540=) c.1539A>T (p.Ser513=) n.1923A>T | |
X | g.18604595dup | CA294681 | CDKL5 | c.1671dup (p.Arg558ThrfsTer9) c.1620dup (p.Arg541ThrfsTer9) c.1539dup (p.Arg514ThrfsTer9) n.1923dup | ClinVar dbSNP |
X | g.18604596del | CA2695231309 | CDKL5 | c.1672del (p.Arg558ValfsTer14) c.1621del (p.Arg541ValfsTer14) c.1540del (p.Arg514ValfsTer14) n.1924del | |
X | g.18604596C>A | CA412362212 | CDKL5 | c.1672C>A (p.Arg558Ser) c.1621C>A (p.Arg541Ser) c.1540C>A (p.Arg514Ser) n.1924C>A | gnomAD v4 |
X | g.18604596C= | CA2417974458 | CDKL5 | c.1672C= (p.Arg558=) c.1621C= (p.Arg541=) c.1540C= (p.Arg514=) n.1924C= | |
X | g.18604596C>G | CA412362214 | CDKL5 | c.1672C>G (p.Arg558Gly) c.1621C>G (p.Arg541Gly) c.1540C>G (p.Arg514Gly) n.1924C>G | |
X | g.18604596C>T | CA10360403 | CDKL5 | c.1672C>T (p.Arg558Cys) c.1621C>T (p.Arg541Cys) c.1540C>T (p.Arg514Cys) n.1924C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604597G>A | CA10360404 | CDKL5 | c.1673G>A (p.Arg558His) c.1622G>A (p.Arg541His) c.1541G>A (p.Arg514His) n.1925G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18604597G>C | CA412362218 | CDKL5 | c.1673G>C (p.Arg558Pro) c.1622G>C (p.Arg541Pro) c.1541G>C (p.Arg514Pro) n.1925G>C | |
X | g.18604597G= | CA2417974459 | CDKL5 | c.1673G= (p.Arg558=) c.1622G= (p.Arg541=) c.1541G= (p.Arg514=) n.1925G= | |
X | g.18604597G>T | CA412362220 | CDKL5 | c.1673G>T (p.Arg558Leu) c.1622G>T (p.Arg541Leu) c.1541G>T (p.Arg514Leu) n.1925G>T | |
X | g.18604598T>A | CA515627891 | CDKL5 | c.1674T>A (p.Arg558=) c.1623T>A (p.Arg541=) c.1542T>A (p.Arg514=) n.1926T>A | |
X | g.18604598T>C | CA515627892 | CDKL5 | c.1674T>C (p.Arg558=) c.1623T>C (p.Arg541=) c.1542T>C (p.Arg514=) n.1926T>C | |
X | g.18604598T>G | CA515627893 | CDKL5 | c.1674T>G (p.Arg558=) c.1623T>G (p.Arg541=) c.1542T>G (p.Arg514=) n.1926T>G | |
X | g.18604599C>A | CA515627894 | CDKL5 | c.1675C>A (p.Arg559=) c.1624C>A (p.Arg542=) c.1543C>A (p.Arg515=) n.1927C>A | |
X | g.18604599C= | CA2417974460 | CDKL5 | c.1675C= (p.Arg559=) c.1624C= (p.Arg542=) c.1543C= (p.Arg515=) n.1927C= | |
X | g.18604599C>G | CA412362223 | CDKL5 | c.1675C>G (p.Arg559Gly) c.1624C>G (p.Arg542Gly) c.1543C>G (p.Arg515Gly) n.1927C>G | |
X | g.18604599C>T | CA171614 | CDKL5 | c.1675C>T (p.Arg559Ter) c.1624C>T (p.Arg542Ter) c.1543C>T (p.Arg515Ter) n.1927C>T | ClinVar dbSNP |
X | g.18604600G>A | CA412362225 | CDKL5 | c.1676G>A (p.Arg559Gln) c.1625G>A (p.Arg542Gln) c.1544G>A (p.Arg515Gln) n.1928G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604600G>C | CA412362226 | CDKL5 | c.1676G>C (p.Arg559Pro) c.1625G>C (p.Arg542Pro) c.1544G>C (p.Arg515Pro) n.1928G>C | |
X | g.18604600G= | CA2417974461 | CDKL5 | c.1676G= (p.Arg559=) c.1625G= (p.Arg542=) c.1544G= (p.Arg515=) n.1928G= | |
X | g.18604600G>T | CA412362228 | CDKL5 | c.1676G>T (p.Arg559Leu) c.1625G>T (p.Arg542Leu) c.1544G>T (p.Arg515Leu) n.1928G>T | |
X | g.18604601A>C | CA515627895 | CDKL5 | c.1677A>C (p.Arg559=) c.1626A>C (p.Arg542=) c.1545A>C (p.Arg515=) n.1929A>C | |
X | g.18604601A>G | CA515627896 | CDKL5 | c.1677A>G (p.Arg559=) c.1626A>G (p.Arg542=) c.1545A>G (p.Arg515=) n.1929A>G | |
X | g.18604601A>T | CA515627897 | CDKL5 | c.1677A>T (p.Arg559=) c.1626A>T (p.Arg542=) c.1545A>T (p.Arg515=) n.1929A>T | |
X | g.18604602A= | CA2417974462 | CDKL5 | c.1678A= (p.Thr560=) c.1627A= (p.Thr543=) c.1546A= (p.Thr516=) n.1930A= | |
X | g.18604602A>C | CA412362230 | CDKL5 | c.1678A>C (p.Thr560Pro) c.1627A>C (p.Thr543Pro) c.1546A>C (p.Thr516Pro) n.1930A>C | |
X | g.18604602A>G | CA171616 | CDKL5 | c.1678A>G (p.Thr560Ala) c.1627A>G (p.Thr543Ala) c.1546A>G (p.Thr516Ala) n.1930A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604602A>T | CA412362232 | CDKL5 | c.1678A>T (p.Thr560Ser) c.1627A>T (p.Thr543Ser) c.1546A>T (p.Thr516Ser) n.1930A>T | |
X | g.18604603C>A | CA412362235 | CDKL5 | c.1679C>A (p.Thr560Asn) c.1628C>A (p.Thr543Asn) c.1547C>A (p.Thr516Asn) n.1931C>A | |
X | g.18604603C>G | CA412362237 | CDKL5 | c.1679C>G (p.Thr560Ser) c.1628C>G (p.Thr543Ser) c.1547C>G (p.Thr516Ser) n.1931C>G | |
X | g.18604603C>T | CA412362238 | CDKL5 | c.1679C>T (p.Thr560Ile) c.1628C>T (p.Thr543Ile) c.1547C>T (p.Thr516Ile) n.1931C>T | |
X | g.18604604C>A | CA515627898 | CDKL5 | c.1680C>A (p.Thr560=) c.1629C>A (p.Thr543=) c.1548C>A (p.Thr516=) n.1932C>A | |
X | g.18604604C>G | CA515627899 | CDKL5 | c.1680C>G (p.Thr560=) c.1629C>G (p.Thr543=) c.1548C>G (p.Thr516=) n.1932C>G | |
X | g.18604604C>T | CA515627900 | CDKL5 | c.1680C>T (p.Thr560=) c.1629C>T (p.Thr543=) c.1548C>T (p.Thr516=) n.1932C>T | |
X | g.18604605A>C | CA412362240 | CDKL5 | c.1681A>C (p.Thr561Pro) c.1630A>C (p.Thr544Pro) c.1549A>C (p.Thr517Pro) n.1933A>C | |
X | g.18604605A>G | CA412362242 | CDKL5 | c.1681A>G (p.Thr561Ala) c.1630A>G (p.Thr544Ala) c.1549A>G (p.Thr517Ala) n.1933A>G | |
X | g.18604605A>T | CA412362244 | CDKL5 | c.1681A>T (p.Thr561Ser) c.1630A>T (p.Thr544Ser) c.1549A>T (p.Thr517Ser) n.1933A>T | |
X | g.18604605_18604609delinsACAAC | CA2417974463 | CDKL5 | c.1681_1685delinsACAAC (p.Thr561=) c.1630_1634delinsACAAC (p.Thr544=) c.1549_1553delinsACAAC (p.Thr517=) n.1933_1937delinsACAAC | |
X | g.18604606C>A | CA412362246 | CDKL5 | c.1682C>A (p.Thr561Lys) c.1631C>A (p.Thr544Lys) c.1550C>A (p.Thr517Lys) n.1934C>A | |
X | g.18604606C>G | CA412362248 | CDKL5 | c.1682C>G (p.Thr561Arg) c.1631C>G (p.Thr544Arg) c.1550C>G (p.Thr517Arg) n.1934C>G | |
X | g.18604606C>T | CA412362250 | CDKL5 | c.1682C>T (p.Thr561Ile) c.1631C>T (p.Thr544Ile) c.1550C>T (p.Thr517Ile) n.1934C>T | |
X | g.18604608_18604611del | CA645373291 | CDKL5 | c.1684_1687del (p.Thr562AspfsTer9) c.1633_1636del (p.Thr545AspfsTer9) c.1552_1555del (p.Thr518AspfsTer9) n.1936_1939del | ClinVar dbSNP |
X | g.18604607A>C | CA515627901 | CDKL5 | c.1683A>C (p.Thr561=) c.1632A>C (p.Thr544=) c.1551A>C (p.Thr517=) n.1935A>C | |
X | g.18604607A>G | CA515627903 | CDKL5 | c.1683A>G (p.Thr561=) c.1632A>G (p.Thr544=) c.1551A>G (p.Thr517=) n.1935A>G | |
X | g.18604607A>T | CA515627902 | CDKL5 | c.1683A>T (p.Thr561=) c.1632A>T (p.Thr544=) c.1551A>T (p.Thr517=) n.1935A>T | |
X | g.18604608A= | CA2417974464 | CDKL5 | c.1684A= (p.Thr562=) c.1633A= (p.Thr545=) c.1552A= (p.Thr518=) n.1936A= | |
X | g.18604608A>C | CA412362251 | CDKL5 | c.1684A>C (p.Thr562Pro) c.1633A>C (p.Thr545Pro) c.1552A>C (p.Thr518Pro) n.1936A>C | |
X | g.18604608A>G | CA10360405 | CDKL5 | c.1684A>G (p.Thr562Ala) c.1633A>G (p.Thr545Ala) c.1552A>G (p.Thr518Ala) n.1936A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604608A>T | CA412362254 | CDKL5 | c.1684A>T (p.Thr562Ser) c.1633A>T (p.Thr545Ser) c.1552A>T (p.Thr518Ser) n.1936A>T | |
X | g.18604609C>A | CA412362255 | CDKL5 | c.1685C>A (p.Thr562Asn) c.1634C>A (p.Thr545Asn) c.1553C>A (p.Thr518Asn) n.1937C>A | |
X | g.18604609C>G | CA412362258 | CDKL5 | c.1685C>G (p.Thr562Ser) c.1634C>G (p.Thr545Ser) c.1553C>G (p.Thr518Ser) n.1937C>G | |
X | g.18604609C>T | CA412362256 | CDKL5 | c.1685C>T (p.Thr562Ile) c.1634C>T (p.Thr545Ile) c.1553C>T (p.Thr518Ile) n.1937C>T | |
X | g.18604610del | CA2573158470 | CDKL5 | c.1686del (p.Arg563AspfsTer9) c.1635del (p.Arg546AspfsTer9) c.1554del (p.Arg519AspfsTer9) n.1938del | ClinVar dbSNP |
X | g.18604610C>A | CA515627904 | CDKL5 | c.1686C>A (p.Thr562=) c.1635C>A (p.Thr545=) c.1554C>A (p.Thr518=) n.1938C>A | |
X | g.18604610C>G | CA515627905 | CDKL5 | c.1686C>G (p.Thr562=) c.1635C>G (p.Thr545=) c.1554C>G (p.Thr518=) n.1938C>G | |
X | g.18604610C>T | CA515627906 | CDKL5 | c.1686C>T (p.Thr562=) c.1635C>T (p.Thr545=) c.1554C>T (p.Thr518=) n.1938C>T | |
X | g.18604610_18604611insTA | CA2573158471 | CDKL5 | c.1686_1687insTA (p.Arg563Ter) c.1635_1636insTA (p.Arg546Ter) c.1554_1555insTA (p.Arg519Ter) n.1938_1939insTA | dbSNP |
X | g.18604611A>C | CA515627907 | CDKL5 | c.1687A>C (p.Arg563=) c.1636A>C (p.Arg546=) c.1555A>C (p.Arg519=) n.1939A>C | |
X | g.18604611A>G | CA412362260 | CDKL5 | c.1687A>G (p.Arg563Gly) c.1636A>G (p.Arg546Gly) c.1555A>G (p.Arg519Gly) n.1939A>G | |
X | g.18604611A>T | CA412362261 | CDKL5 | c.1687A>T (p.Arg563Ter) c.1636A>T (p.Arg546Ter) c.1555A>T (p.Arg519Ter) n.1939A>T | |
X | g.18604612G>A | CA412362263 | CDKL5 | c.1688G>A (p.Arg563Lys) c.1637G>A (p.Arg546Lys) c.1556G>A (p.Arg519Lys) n.1940G>A | |
X | g.18604612G>C | CA412362264 | CDKL5 | c.1688G>C (p.Arg563Thr) c.1637G>C (p.Arg546Thr) c.1556G>C (p.Arg519Thr) n.1940G>C | |
X | g.18604612G>T | CA412362265 | CDKL5 | c.1688G>T (p.Arg563Ile) c.1637G>T (p.Arg546Ile) c.1556G>T (p.Arg519Ile) n.1940G>T | |
X | g.18604613A>C | CA412362267 | CDKL5 | c.1689A>C (p.Arg563Ser) c.1638A>C (p.Arg546Ser) c.1557A>C (p.Arg519Ser) n.1941A>C | ClinVar |
X | g.18604613A>G | CA515627908 | CDKL5 | c.1689A>G (p.Arg563=) c.1638A>G (p.Arg546=) c.1557A>G (p.Arg519=) n.1941A>G | gnomAD v4 |
X | g.18604613A>T | CA412362268 | CDKL5 | c.1689A>T (p.Arg563Ser) c.1638A>T (p.Arg546Ser) c.1557A>T (p.Arg519Ser) n.1941A>T | ClinVar dbSNP |
X | g.18604614C>A | CA412362271 | CDKL5 | c.1690C>A (p.His564Asn) c.1639C>A (p.His547Asn) c.1558C>A (p.His520Asn) n.1942C>A | |
X | g.18604614C>G | CA412362272 | CDKL5 | c.1690C>G (p.His564Asp) c.1639C>G (p.His547Asp) c.1558C>G (p.His520Asp) n.1942C>G | gnomAD v4 |
X | g.18604614C>T | CA412362274 | CDKL5 | c.1690C>T (p.His564Tyr) c.1639C>T (p.His547Tyr) c.1558C>T (p.His520Tyr) n.1942C>T | |
X | g.18604615A= | CA2417974465 | CDKL5 | c.1691A= (p.His564=) c.1640A= (p.His547=) c.1559A= (p.His520=) n.1943A= | |
X | g.18604615A>C | CA412362277 | CDKL5 | c.1691A>C (p.His564Pro) c.1640A>C (p.His547Pro) c.1559A>C (p.His520Pro) n.1943A>C | |
X | g.18604615A>G | CA412362278 | CDKL5 | c.1691A>G (p.His564Arg) c.1640A>G (p.His547Arg) c.1559A>G (p.His520Arg) n.1943A>G | ClinVar dbSNP |
X | g.18604615A>T | CA412362280 | CDKL5 | c.1691A>T (p.His564Leu) c.1640A>T (p.His547Leu) c.1559A>T (p.His520Leu) n.1943A>T | |
X | g.18604616T>A | CA412362286 | CDKL5 | c.1692T>A (p.His564Gln) c.1641T>A (p.His547Gln) c.1560T>A (p.His520Gln) n.1944T>A | |
X | g.18604616T>C | CA10360406 | CDKL5 | c.1692T>C (p.His564=) c.1641T>C (p.His547=) c.1560T>C (p.His520=) n.1944T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604616T>G | CA412362282 | CDKL5 | c.1692T>G (p.His564Gln) c.1641T>G (p.His547Gln) c.1560T>G (p.His520Gln) n.1944T>G | |
X | g.18604616T= | CA2417974466 | CDKL5 | c.1692T= (p.His564=) c.1641T= (p.His547=) c.1560T= (p.His520=) n.1944T= | |
X | g.18604617T>A | CA412362288 | CDKL5 | c.1693T>A (p.Ser565Thr) c.1642T>A (p.Ser548Thr) c.1561T>A (p.Ser521Thr) n.1945T>A | |
X | g.18604617T>C | CA412362291 | CDKL5 | c.1693T>C (p.Ser565Pro) c.1642T>C (p.Ser548Pro) c.1561T>C (p.Ser521Pro) n.1945T>C | |
X | g.18604617T>G | CA412362292 | CDKL5 | c.1693T>G (p.Ser565Ala) c.1642T>G (p.Ser548Ala) c.1561T>G (p.Ser521Ala) n.1945T>G | |
X | g.18604618C>A | CA412362293 | CDKL5 | c.1694C>A (p.Ser565Tyr) c.1643C>A (p.Ser548Tyr) c.1562C>A (p.Ser521Tyr) n.1946C>A | |
X | g.18604618C>G | CA412362295 | CDKL5 | c.1694C>G (p.Ser565Cys) c.1643C>G (p.Ser548Cys) c.1562C>G (p.Ser521Cys) n.1946C>G | |
X | g.18604618C>T | CA412362297 | CDKL5 | c.1694C>T (p.Ser565Phe) c.1643C>T (p.Ser548Phe) c.1562C>T (p.Ser521Phe) n.1946C>T | |
X | g.18604619T>A | CA515627909 | CDKL5 | c.1695T>A (p.Ser565=) c.1644T>A (p.Ser548=) c.1563T>A (p.Ser521=) n.1947T>A | |
X | g.18604619T>C | CA515627910 | CDKL5 | c.1695T>C (p.Ser565=) c.1644T>C (p.Ser548=) c.1563T>C (p.Ser521=) n.1947T>C | |
X | g.18604619T>G | CA515627911 | CDKL5 | c.1695T>G (p.Ser565=) c.1644T>G (p.Ser548=) c.1563T>G (p.Ser521=) n.1947T>G | |
X | g.18604619dup | CA2695231312 | CDKL5 | c.1695dup (p.Lys566Ter) c.1644dup (p.Lys549Ter) c.1563dup (p.Lys522Ter) n.1947dup | |
X | g.18604620A>C | CA412362299 | CDKL5 | c.1696A>C (p.Lys566Gln) c.1645A>C (p.Lys549Gln) c.1564A>C (p.Lys522Gln) n.1948A>C | |
X | g.18604620A>G | CA412362301 | CDKL5 | c.1696A>G (p.Lys566Glu) c.1645A>G (p.Lys549Glu) c.1564A>G (p.Lys522Glu) n.1948A>G | |
X | g.18604620A>T | CA412362303 | CDKL5 | c.1696A>T (p.Lys566Ter) c.1645A>T (p.Lys549Ter) c.1564A>T (p.Lys522Ter) n.1948A>T | |
X | g.18604621A>C | CA412362304 | CDKL5 | c.1697A>C (p.Lys566Thr) c.1646A>C (p.Lys549Thr) c.1565A>C (p.Lys522Thr) n.1949A>C | |
X | g.18604621A>G | CA412362306 | CDKL5 | c.1697A>G (p.Lys566Arg) c.1646A>G (p.Lys549Arg) c.1565A>G (p.Lys522Arg) n.1949A>G | |
X | g.18604621A>T | CA412362308 | CDKL5 | c.1697A>T (p.Lys566Met) c.1646A>T (p.Lys549Met) c.1565A>T (p.Lys522Met) n.1949A>T | |
X | g.18604622G>A | CA515627912 | CDKL5 | c.1698G>A (p.Lys566=) c.1647G>A (p.Lys549=) c.1566G>A (p.Lys522=) n.1950G>A | |
X | g.18604622G>C | CA412362310 | CDKL5 | c.1698G>C (p.Lys566Asn) c.1647G>C (p.Lys549Asn) c.1566G>C (p.Lys522Asn) n.1950G>C | |
X | g.18604622G>T | CA412362312 | CDKL5 | c.1698G>T (p.Lys566Asn) c.1647G>T (p.Lys549Asn) c.1566G>T (p.Lys522Asn) n.1950G>T | |
X | g.18604623A>C | CA412362317 | CDKL5 | c.1699A>C (p.Thr567Pro) c.1648A>C (p.Thr550Pro) c.1567A>C (p.Thr523Pro) n.1951A>C | |
X | g.18604623A>G | CA412362316 | CDKL5 | c.1699A>G (p.Thr567Ala) c.1648A>G (p.Thr550Ala) c.1567A>G (p.Thr523Ala) n.1951A>G | |
X | g.18604623A>T | CA412362314 | CDKL5 | c.1699A>T (p.Thr567Ser) c.1648A>T (p.Thr550Ser) c.1567A>T (p.Thr523Ser) n.1951A>T | |
X | g.18604624C>A | CA412362320 | CDKL5 | c.1700C>A (p.Thr567Lys) c.1649C>A (p.Thr550Lys) c.1568C>A (p.Thr523Lys) n.1952C>A | gnomAD v4 |
X | g.18604624C= | CA2417974467 | CDKL5 | c.1700C= (p.Thr567=) c.1649C= (p.Thr550=) c.1568C= (p.Thr523=) n.1952C= | |
X | g.18604624C>G | CA412362322 | CDKL5 | c.1700C>G (p.Thr567Arg) c.1649C>G (p.Thr550Arg) c.1568C>G (p.Thr523Arg) n.1952C>G | |
X | g.18604624C>T | CA412362323 | CDKL5 | c.1700C>T (p.Thr567Met) c.1649C>T (p.Thr550Met) c.1568C>T (p.Thr523Met) n.1952C>T | ClinVar dbSNP gnomAD v4 |
X | g.18604625G>A | CA10360407 | CDKL5 | c.1701G>A (p.Thr567=) c.1650G>A (p.Thr550=) c.1569G>A (p.Thr523=) n.1953G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604625G>C | CA515627913 | CDKL5 | c.1701G>C (p.Thr567=) c.1650G>C (p.Thr550=) c.1569G>C (p.Thr523=) n.1953G>C | |
X | g.18604625G= | CA2417974468 | CDKL5 | c.1701G= (p.Thr567=) c.1650G= (p.Thr550=) c.1569G= (p.Thr523=) n.1953G= | |
X | g.18604625G>T | CA515627914 | CDKL5 | c.1701G>T (p.Thr567=) c.1650G>T (p.Thr550=) c.1569G>T (p.Thr523=) n.1953G>T | ClinVar dbSNP |
X | g.18604626A>C | CA412362327 | CDKL5 | c.1702A>C (p.Met568Leu) c.1651A>C (p.Met551Leu) c.1570A>C (p.Met524Leu) n.1954A>C | |
X | g.18604626A>G | CA412362328 | CDKL5 | c.1702A>G (p.Met568Val) c.1651A>G (p.Met551Val) c.1570A>G (p.Met524Val) n.1954A>G | |
X | g.18604626A>T | CA412362330 | CDKL5 | c.1702A>T (p.Met568Leu) c.1651A>T (p.Met551Leu) c.1570A>T (p.Met524Leu) n.1954A>T | |
X | g.18604627T>A | CA412362332 | CDKL5 | c.1703T>A (p.Met568Lys) c.1652T>A (p.Met551Lys) c.1571T>A (p.Met524Lys) n.1955T>A | |
X | g.18604627T>C | CA412362334 | CDKL5 | c.1703T>C (p.Met568Thr) c.1652T>C (p.Met551Thr) c.1571T>C (p.Met524Thr) n.1955T>C | gnomAD v4 |
X | g.18604627T>G | CA412362336 | CDKL5 | c.1703T>G (p.Met568Arg) c.1652T>G (p.Met551Arg) c.1571T>G (p.Met524Arg) n.1955T>G | |
X | g.18604628G>A | CA412362338 | CDKL5 | c.1704G>A (p.Met568Ile) c.1653G>A (p.Met551Ile) c.1572G>A (p.Met524Ile) n.1956G>A | dbSNP |
X | g.18604628G>C | CA412362340 | CDKL5 | c.1704G>C (p.Met568Ile) c.1653G>C (p.Met551Ile) c.1572G>C (p.Met524Ile) n.1956G>C | |
X | g.18604628G= | CA2417974469 | CDKL5 | c.1704G= (p.Met568=) c.1653G= (p.Met551=) c.1572G= (p.Met524=) n.1956G= | |
X | g.18604628G>T | CA412362342 | CDKL5 | c.1704G>T (p.Met568Ile) c.1653G>T (p.Met551Ile) c.1572G>T (p.Met524Ile) n.1956G>T | |
X | g.18604629G>A | CA412362348 | CDKL5 | c.1705G>A (p.Glu569Lys) c.1654G>A (p.Glu552Lys) c.1573G>A (p.Glu525Lys) n.1957G>A | |
X | g.18604629G>C | CA412362347 | CDKL5 | c.1705G>C (p.Glu569Gln) c.1654G>C (p.Glu552Gln) c.1573G>C (p.Glu525Gln) n.1957G>C | |
X | g.18604629G>T | CA412362344 | CDKL5 | c.1705G>T (p.Glu569Ter) c.1654G>T (p.Glu552Ter) c.1573G>T (p.Glu525Ter) n.1957G>T | |
X | g.18604630A>C | CA412362350 | CDKL5 | c.1706A>C (p.Glu569Ala) c.1655A>C (p.Glu552Ala) c.1574A>C (p.Glu525Ala) n.1958A>C | |
X | g.18604630A>G | CA412362351 | CDKL5 | c.1706A>G (p.Glu569Gly) c.1655A>G (p.Glu552Gly) c.1574A>G (p.Glu525Gly) n.1958A>G | |
X | g.18604630A>T | CA412362352 | CDKL5 | c.1706A>T (p.Glu569Val) c.1655A>T (p.Glu552Val) c.1574A>T (p.Glu525Val) n.1958A>T | |
X | g.18604631G>A | CA515627915 | CDKL5 | c.1707G>A (p.Glu569=) c.1656G>A (p.Glu552=) c.1575G>A (p.Glu525=) n.1959G>A | |
X | g.18604631G>C | CA412362354 | CDKL5 | c.1707G>C (p.Glu569Asp) c.1656G>C (p.Glu552Asp) c.1575G>C (p.Glu525Asp) n.1959G>C | |
X | g.18604631G>T | CA412362355 | CDKL5 | c.1707G>T (p.Glu569Asp) c.1656G>T (p.Glu552Asp) c.1575G>T (p.Glu525Asp) n.1959G>T | |
X | g.18604632G>A | CA412362357 | CDKL5 | c.1708G>A (p.Glu570Lys) c.1657G>A (p.Glu553Lys) c.1576G>A (p.Glu526Lys) n.1960G>A | |
X | g.18604632G>C | CA412362359 | CDKL5 | c.1708G>C (p.Glu570Gln) c.1657G>C (p.Glu553Gln) c.1576G>C (p.Glu526Gln) n.1960G>C | |
X | g.18604632G= | CA2417974470 | CDKL5 | c.1708G= (p.Glu570=) c.1657G= (p.Glu553=) c.1576G= (p.Glu526=) n.1960G= | |
X | g.18604632G>T | CA170452 | CDKL5 | c.1708G>T (p.Glu570Ter) c.1657G>T (p.Glu553Ter) c.1576G>T (p.Glu526Ter) n.1960G>T | ClinVar dbSNP |
X | g.18604633A>C | CA412362363 | CDKL5 | c.1709A>C (p.Glu570Ala) c.1658A>C (p.Glu553Ala) c.1577A>C (p.Glu526Ala) n.1961A>C | |
X | g.18604633A>G | CA412362364 | CDKL5 | c.1709A>G (p.Glu570Gly) c.1658A>G (p.Glu553Gly) c.1577A>G (p.Glu526Gly) n.1961A>G | |
X | g.18604633A>T | CA412362365 | CDKL5 | c.1709A>T (p.Glu570Val) c.1658A>T (p.Glu553Val) c.1577A>T (p.Glu526Val) n.1961A>T | |
X | g.18604634A>C | CA412362367 | CDKL5 | c.1710A>C (p.Glu570Asp) c.1659A>C (p.Glu553Asp) c.1578A>C (p.Glu526Asp) n.1962A>C | |
X | g.18604634A>G | CA515627916 | CDKL5 | c.1710A>G (p.Glu570=) c.1659A>G (p.Glu553=) c.1578A>G (p.Glu526=) n.1962A>G | |
X | g.18604634A>T | CA412362369 | CDKL5 | c.1710A>T (p.Glu570Asp) c.1659A>T (p.Glu553Asp) c.1578A>T (p.Glu526Asp) n.1962A>T | |
X | g.18604635T>A | CA412362375 | CDKL5 | c.1711T>A (p.Leu571Met) c.1660T>A (p.Leu554Met) c.1579T>A (p.Leu527Met) n.1963T>A | |
X | g.18604635T>C | CA10360408 | CDKL5 | c.1711T>C (p.Leu571=) c.1660T>C (p.Leu554=) c.1579T>C (p.Leu527=) n.1963T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604635T>G | CA412362373 | CDKL5 | c.1711T>G (p.Leu571Val) c.1660T>G (p.Leu554Val) c.1579T>G (p.Leu527Val) n.1963T>G | |
X | g.18604635T= | CA2417974471 | CDKL5 | c.1711T= (p.Leu571=) c.1660T= (p.Leu554=) c.1579T= (p.Leu527=) n.1963T= | |
X | g.18604636T>A | CA412362378 | CDKL5 | c.1712T>A (p.Leu571Ter) c.1661T>A (p.Leu554Ter) c.1580T>A (p.Leu527Ter) n.1964T>A | |
X | g.18604636T>C | CA412362382 | CDKL5 | c.1712T>C (p.Leu571Ser) c.1661T>C (p.Leu554Ser) c.1580T>C (p.Leu527Ser) n.1964T>C | |
X | g.18604636T>G | CA412362379 | CDKL5 | c.1712T>G (p.Leu571Trp) c.1661T>G (p.Leu554Trp) c.1580T>G (p.Leu527Trp) n.1964T>G | |
X | g.18604637G>A | CA10360409 | CDKL5 | c.1713G>A (p.Leu571=) c.1662G>A (p.Leu554=) c.1581G>A (p.Leu527=) n.1965G>A | ClinVar dbSNP ExAC gnomAD v2 |
X | g.18604637G>C | CA412362385 | CDKL5 | c.1713G>C (p.Leu571Phe) c.1662G>C (p.Leu554Phe) c.1581G>C (p.Leu527Phe) n.1965G>C | |
X | g.18604637G= | CA2417974472 | CDKL5 | c.1713G= (p.Leu571=) c.1662G= (p.Leu554=) c.1581G= (p.Leu527=) n.1965G= | |
X | g.18604637G>T | CA412362387 | CDKL5 | c.1713G>T (p.Leu571Phe) c.1662G>T (p.Leu554Phe) c.1581G>T (p.Leu527Phe) n.1965G>T | |
X | g.18604638A>C | CA412362389 | CDKL5 | c.1714A>C (p.Lys572Gln) c.1663A>C (p.Lys555Gln) c.1582A>C (p.Lys528Gln) n.1966A>C | |
X | g.18604638A>G | CA412362390 | CDKL5 | c.1714A>G (p.Lys572Glu) c.1663A>G (p.Lys555Glu) c.1582A>G (p.Lys528Glu) n.1966A>G | |
X | g.18604638A>T | CA412362393 | CDKL5 | c.1714A>T (p.Lys572Ter) c.1663A>T (p.Lys555Ter) c.1582A>T (p.Lys528Ter) n.1966A>T | |
X | g.18604639A>C | CA412362395 | CDKL5 | c.1715A>C (p.Lys572Thr) c.1664A>C (p.Lys555Thr) c.1583A>C (p.Lys528Thr) n.1967A>C | |
X | g.18604639A>G | CA412362396 | CDKL5 | c.1715A>G (p.Lys572Arg) c.1664A>G (p.Lys555Arg) c.1583A>G (p.Lys528Arg) n.1967A>G | |
X | g.18604639A>T | CA412362398 | CDKL5 | c.1715A>T (p.Lys572Met) c.1664A>T (p.Lys555Met) c.1583A>T (p.Lys528Met) n.1967A>T | |
X | g.18604640G>A | CA515627917 | CDKL5 | c.1716G>A (p.Lys572=) c.1665G>A (p.Lys555=) c.1584G>A (p.Lys528=) n.1968G>A | |
X | g.18604640G>C | CA412362400 | CDKL5 | c.1716G>C (p.Lys572Asn) c.1665G>C (p.Lys555Asn) c.1584G>C (p.Lys528Asn) n.1968G>C | |
X | g.18604640G>T | CA412362402 | CDKL5 | c.1716G>T (p.Lys572Asn) c.1665G>T (p.Lys555Asn) c.1584G>T (p.Lys528Asn) n.1968G>T | gnomAD v4 |
X | g.18604641C>A | CA412362403 | CDKL5 | c.1717C>A (p.Leu573Met) c.1666C>A (p.Leu556Met) c.1585C>A (p.Leu529Met) n.1969C>A | |
X | g.18604641C>G | CA412362405 | CDKL5 | c.1717C>G (p.Leu573Val) c.1666C>G (p.Leu556Val) c.1585C>G (p.Leu529Val) n.1969C>G | |
X | g.18604641C>T | CA515627918 | CDKL5 | c.1717C>T (p.Leu573=) c.1666C>T (p.Leu556=) c.1585C>T (p.Leu529=) n.1969C>T | |
X | g.18604642T>A | CA412362407 | CDKL5 | c.1718T>A (p.Leu573Gln) c.1667T>A (p.Leu556Gln) c.1586T>A (p.Leu529Gln) n.1970T>A | |
X | g.18604642T>C | CA412362411 | CDKL5 | c.1718T>C (p.Leu573Pro) c.1667T>C (p.Leu556Pro) c.1586T>C (p.Leu529Pro) n.1970T>C | |
X | g.18604642T>G | CA412362408 | CDKL5 | c.1718T>G (p.Leu573Arg) c.1667T>G (p.Leu556Arg) c.1586T>G (p.Leu529Arg) n.1970T>G | |
X | g.18604643G>A | CA515627919 | CDKL5 | c.1719G>A (p.Leu573=) c.1668G>A (p.Leu556=) c.1587G>A (p.Leu529=) n.1971G>A | |
X | g.18604643G>C | CA515627920 | CDKL5 | c.1719G>C (p.Leu573=) c.1668G>C (p.Leu556=) c.1587G>C (p.Leu529=) n.1971G>C | |
X | g.18604643G>T | CA515627921 | CDKL5 | c.1719G>T (p.Leu573=) c.1668G>T (p.Leu556=) c.1587G>T (p.Leu529=) n.1971G>T | dbSNP |
X | g.18604645_18604650del | CA2693222735 | CDKL5 | c.1721_1726del (p.Pro574_Glu575del) c.1670_1675del (p.Pro557_Glu558del) c.1589_1594del (p.Pro530_Glu531del) n.1973_1978del | gnomAD v4 |
X | g.18604644C>A | CA412362413 | CDKL5 | c.1720C>A (p.Pro574Thr) c.1669C>A (p.Pro557Thr) c.1588C>A (p.Pro530Thr) n.1972C>A | |
X | g.18604644C>G | CA412362416 | CDKL5 | c.1720C>G (p.Pro574Ala) c.1669C>G (p.Pro557Ala) c.1588C>G (p.Pro530Ala) n.1972C>G | |
X | g.18604644C>T | CA412362418 | CDKL5 | c.1720C>T (p.Pro574Ser) c.1669C>T (p.Pro557Ser) c.1588C>T (p.Pro530Ser) n.1972C>T | |
X | g.18604645C>A | CA326987875 | CDKL5 | c.1721C>A (p.Pro574Gln) c.1670C>A (p.Pro557Gln) c.1589C>A (p.Pro530Gln) n.1973C>A | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.18604645C= | CA2417974473 | CDKL5 | c.1721C= (p.Pro574=) c.1670C= (p.Pro557=) c.1589C= (p.Pro530=) n.1973C= | |
X | g.18604645C>G | CA412362419 | CDKL5 | c.1721C>G (p.Pro574Arg) c.1670C>G (p.Pro557Arg) c.1589C>G (p.Pro530Arg) n.1973C>G | |
X | g.18604645C>T | CA294755 | CDKL5 | c.1721C>T (p.Pro574Leu) c.1670C>T (p.Pro557Leu) c.1589C>T (p.Pro530Leu) n.1973C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604646G>A | CA209032 | CDKL5 | c.1722G>A (p.Pro574=) c.1671G>A (p.Pro557=) c.1590G>A (p.Pro530=) n.1974G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604646G>C | CA515627922 | CDKL5 | c.1722G>C (p.Pro574=) c.1671G>C (p.Pro557=) c.1590G>C (p.Pro530=) n.1974G>C | |
X | g.18604646G= | CA2417974474 | CDKL5 | c.1722G= (p.Pro574=) c.1671G= (p.Pro557=) c.1590G= (p.Pro530=) n.1974G= | |
X | g.18604646G>T | CA515627923 | CDKL5 | c.1722G>T (p.Pro574=) c.1671G>T (p.Pro557=) c.1590G>T (p.Pro530=) n.1974G>T | COSMIC |
X | g.18604647G>A | CA412362424 | CDKL5 | c.1723G>A (p.Glu575Lys) c.1672G>A (p.Glu558Lys) c.1591G>A (p.Glu531Lys) n.1975G>A | |
X | g.18604647G>C | CA412362426 | CDKL5 | c.1723G>C (p.Glu575Gln) c.1672G>C (p.Glu558Gln) c.1591G>C (p.Glu531Gln) n.1975G>C | |
X | g.18604647G>T | CA412362428 | CDKL5 | c.1723G>T (p.Glu575Ter) c.1672G>T (p.Glu558Ter) c.1591G>T (p.Glu531Ter) n.1975G>T | |
X | g.18604648A>C | CA412362434 | CDKL5 | c.1724A>C (p.Glu575Ala) c.1673A>C (p.Glu558Ala) c.1592A>C (p.Glu531Ala) n.1976A>C | |
X | g.18604648A>G | CA412362432 | CDKL5 | c.1724A>G (p.Glu575Gly) c.1673A>G (p.Glu558Gly) c.1592A>G (p.Glu531Gly) n.1976A>G | gnomAD v4 |
X | g.18604648A>T | CA412362430 | CDKL5 | c.1724A>T (p.Glu575Val) c.1673A>T (p.Glu558Val) c.1592A>T (p.Glu531Val) n.1976A>T | |
X | g.18604649G>A | CA10360410 | CDKL5 | c.1725G>A (p.Glu575=) c.1674G>A (p.Glu558=) c.1593G>A (p.Glu531=) n.1977G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604649G>C | CA412362437 | CDKL5 | c.1725G>C (p.Glu575Asp) c.1674G>C (p.Glu558Asp) c.1593G>C (p.Glu531Asp) n.1977G>C | |
X | g.18604649G= | CA2417974475 | CDKL5 | c.1725G= (p.Glu575=) c.1674G= (p.Glu558=) c.1593G= (p.Glu531=) n.1977G= | |
X | g.18604649G>T | CA412362439 | CDKL5 | c.1725G>T (p.Glu575Asp) c.1674G>T (p.Glu558Asp) c.1593G>T (p.Glu531Asp) n.1977G>T | |
X | g.18604650C>A | CA412362441 | CDKL5 | c.1726C>A (p.His576Asn) c.1675C>A (p.His559Asn) c.1594C>A (p.His532Asn) n.1978C>A | |
X | g.18604650C>G | CA412362443 | CDKL5 | c.1726C>G (p.His576Asp) c.1675C>G (p.His559Asp) c.1594C>G (p.His532Asp) n.1978C>G | |
X | g.18604650C>T | CA412362444 | CDKL5 | c.1726C>T (p.His576Tyr) c.1675C>T (p.His559Tyr) c.1594C>T (p.His532Tyr) n.1978C>T | gnomAD v4 |
X | g.18604651A= | CA2417974476 | CDKL5 | c.1727A= (p.His576=) c.1676A= (p.His559=) c.1595A= (p.His532=) n.1979A= | |
X | g.18604651A>C | CA412362450 | CDKL5 | c.1727A>C (p.His576Pro) c.1676A>C (p.His559Pro) c.1595A>C (p.His532Pro) n.1979A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604651A>G | CA412362447 | CDKL5 | c.1727A>G (p.His576Arg) c.1676A>G (p.His559Arg) c.1595A>G (p.His532Arg) n.1979A>G | |
X | g.18604651A>T | CA412362448 | CDKL5 | c.1727A>T (p.His576Leu) c.1676A>T (p.His559Leu) c.1595A>T (p.His532Leu) n.1979A>T | |
X | g.18604652C>A | CA412362452 | CDKL5 | c.1728C>A (p.His576Gln) c.1677C>A (p.His559Gln) c.1596C>A (p.His532Gln) n.1980C>A | |
X | g.18604652C>G | CA412362454 | CDKL5 | c.1728C>G (p.His576Gln) c.1677C>G (p.His559Gln) c.1596C>G (p.His532Gln) n.1980C>G | |
X | g.18604652C>T | CA515627924 | CDKL5 | c.1728C>T (p.His576=) c.1677C>T (p.His559=) c.1596C>T (p.His532=) n.1980C>T | |
X | g.18604653A= | CA2417974477 | CDKL5 | c.1729A= (p.Met577=) c.1678A= (p.Met560=) c.1597A= (p.Met533=) n.1981A= | |
X | g.18604653A>C | CA412362457 | CDKL5 | c.1729A>C (p.Met577Leu) c.1678A>C (p.Met560Leu) c.1597A>C (p.Met533Leu) n.1981A>C | dbSNP |
X | g.18604653A>G | CA412362458 | CDKL5 | c.1729A>G (p.Met577Val) c.1678A>G (p.Met560Val) c.1597A>G (p.Met533Val) n.1981A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604653A>T | CA412362460 | CDKL5 | c.1729A>T (p.Met577Leu) c.1678A>T (p.Met560Leu) c.1597A>T (p.Met533Leu) n.1981A>T | |
X | g.18604654T>A | CA412362463 | CDKL5 | c.1730T>A (p.Met577Lys) c.1679T>A (p.Met560Lys) c.1598T>A (p.Met533Lys) n.1982T>A | |
X | g.18604654T>C | CA10360411 | CDKL5 | c.1730T>C (p.Met577Thr) c.1679T>C (p.Met560Thr) c.1598T>C (p.Met533Thr) n.1982T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604654T>G | CA412362465 | CDKL5 | c.1730T>G (p.Met577Arg) c.1679T>G (p.Met560Arg) c.1598T>G (p.Met533Arg) n.1982T>G | |
X | g.18604654T= | CA2417974478 | CDKL5 | c.1730T= (p.Met577=) c.1679T= (p.Met560=) c.1598T= (p.Met533=) n.1982T= | |
X | g.18604654_18604655dup | CA2695231315 | CDKL5 | c.1730_1731dup (p.Asp578TrpfsTer?) c.1679_1680dup (p.Asp561TrpfsTer?) c.1598_1599dup (p.Asp534TrpfsTer?) n.1982_1983dup | |
X | g.18604655G>A | CA412362468 | CDKL5 | c.1731G>A (p.Met577Ile) c.1680G>A (p.Met560Ile) c.1599G>A (p.Met533Ile) n.1983G>A | ClinVar dbSNP |
X | g.18604655G>C | CA412362469 | CDKL5 | c.1731G>C (p.Met577Ile) c.1680G>C (p.Met560Ile) c.1599G>C (p.Met533Ile) n.1983G>C | |
X | g.18604655G= | CA2417974479 | CDKL5 | c.1731G= (p.Met577=) c.1680G= (p.Met560=) c.1599G= (p.Met533=) n.1983G= | |
X | g.18604655G>T | CA10360412 | CDKL5 | c.1731G>T (p.Met577Ile) c.1680G>T (p.Met560Ile) c.1599G>T (p.Met533Ile) n.1983G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604655_18604656del | CA2695231317 | CDKL5 | c.1731_1732del (p.Met577IlefsTer3) c.1680_1681del (p.Met560IlefsTer3) c.1599_1600del (p.Met533IlefsTer3) n.1983_1984del | |
X | g.18604656G>A | CA412362471 | CDKL5 | c.1732G>A (p.Asp578Asn) c.1681G>A (p.Asp561Asn) c.1600G>A (p.Asp534Asn) n.1984G>A | |
X | g.18604656G>C | CA412362473 | CDKL5 | c.1732G>C (p.Asp578His) c.1681G>C (p.Asp561His) c.1600G>C (p.Asp534His) n.1984G>C | |
X | g.18604656G>T | CA412362475 | CDKL5 | c.1732G>T (p.Asp578Tyr) c.1681G>T (p.Asp561Tyr) c.1600G>T (p.Asp534Tyr) n.1984G>T | |
X | g.18604657A= | CA2417974480 | CDKL5 | c.1733A= (p.Asp578=) c.1682A= (p.Asp561=) c.1601A= (p.Asp534=) n.1985A= | |
X | g.18604657A>C | CA412362477 | CDKL5 | c.1733A>C (p.Asp578Ala) c.1682A>C (p.Asp561Ala) c.1601A>C (p.Asp534Ala) n.1985A>C | |
X | g.18604657A>G | CA412362479 | CDKL5 | c.1733A>G (p.Asp578Gly) c.1682A>G (p.Asp561Gly) c.1601A>G (p.Asp534Gly) n.1985A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.18604657A>T | CA412362480 | CDKL5 | c.1733A>T (p.Asp578Val) c.1682A>T (p.Asp561Val) c.1601A>T (p.Asp534Val) n.1985A>T | |
X | g.18604658_18604662dup | CA2695231318 | CDKL5 | c.1734_1738dup (p.Ser580ThrfsTer?) c.1683_1687dup (p.Ser563ThrfsTer?) c.1602_1606dup (p.Ser536ThrfsTer?) n.1986_1990dup | |
X | g.18604658C>A | CA412362483 | CDKL5 | c.1734C>A (p.Asp578Glu) c.1683C>A (p.Asp561Glu) c.1602C>A (p.Asp534Glu) n.1986C>A | |
X | g.18604658C>G | CA412362485 | CDKL5 | c.1734C>G (p.Asp578Glu) c.1683C>G (p.Asp561Glu) c.1602C>G (p.Asp534Glu) n.1986C>G | |
X | g.18604658C>T | CA515627925 | CDKL5 | c.1734C>T (p.Asp578=) c.1683C>T (p.Asp561=) c.1602C>T (p.Asp534=) n.1986C>T | |
X | g.18604659A>C | CA412362489 | CDKL5 | c.1735A>C (p.Ser579Arg) c.1684A>C (p.Ser562Arg) c.1603A>C (p.Ser535Arg) n.1987A>C | |
X | g.18604659A>G | CA412362491 | CDKL5 | c.1735A>G (p.Ser579Gly) c.1684A>G (p.Ser562Gly) c.1603A>G (p.Ser535Gly) n.1987A>G | |
X | g.18604659A>T | CA412362487 | CDKL5 | c.1735A>T (p.Ser579Cys) c.1684A>T (p.Ser562Cys) c.1603A>T (p.Ser535Cys) n.1987A>T | |
X | g.18604660G>A | CA412362493 | CDKL5 | c.1736G>A (p.Ser579Asn) c.1685G>A (p.Ser562Asn) c.1604G>A (p.Ser535Asn) n.1988G>A | dbSNP |
X | g.18604660G>C | CA412362497 | CDKL5 | c.1736G>C (p.Ser579Thr) c.1685G>C (p.Ser562Thr) c.1604G>C (p.Ser535Thr) n.1988G>C | |
X | g.18604660G= | CA2417974481 | CDKL5 | c.1736G= (p.Ser579=) c.1685G= (p.Ser562=) c.1604G= (p.Ser535=) n.1988G= | |
X | g.18604660G>T | CA412362495 | CDKL5 | c.1736G>T (p.Ser579Ile) c.1685G>T (p.Ser562Ile) c.1604G>T (p.Ser535Ile) n.1988G>T | |
X | g.18604661T>A | CA412362499 | CDKL5 | c.1737T>A (p.Ser579Arg) c.1686T>A (p.Ser562Arg) c.1605T>A (p.Ser535Arg) n.1989T>A | |
X | g.18604661T>C | CA515627926 | CDKL5 | c.1737T>C (p.Ser579=) c.1686T>C (p.Ser562=) c.1605T>C (p.Ser535=) n.1989T>C | |
X | g.18604661T>G | CA412362501 | CDKL5 | c.1737T>G (p.Ser579Arg) c.1686T>G (p.Ser562Arg) c.1605T>G (p.Ser535Arg) n.1989T>G | |
X | g.18604662A>C | CA412362503 | CDKL5 | c.1738A>C (p.Ser580Arg) c.1687A>C (p.Ser563Arg) c.1606A>C (p.Ser536Arg) n.1990A>C | |
X | g.18604662A>G | CA412362507 | CDKL5 | c.1738A>G (p.Ser580Gly) c.1687A>G (p.Ser563Gly) c.1606A>G (p.Ser536Gly) n.1990A>G | COSMIC |
X | g.18604662A>T | CA412362505 | CDKL5 | c.1738A>T (p.Ser580Cys) c.1687A>T (p.Ser563Cys) c.1606A>T (p.Ser536Cys) n.1990A>T | |
X | g.18604663G>A | CA412362509 | CDKL5 | c.1739G>A (p.Ser580Asn) c.1688G>A (p.Ser563Asn) c.1607G>A (p.Ser536Asn) n.1991G>A | |
X | g.18604663G>C | CA412362513 | CDKL5 | c.1739G>C (p.Ser580Thr) c.1688G>C (p.Ser563Thr) c.1607G>C (p.Ser536Thr) n.1991G>C | |
X | g.18604663G>T | CA412362511 | CDKL5 | c.1739G>T (p.Ser580Ile) c.1688G>T (p.Ser563Ile) c.1607G>T (p.Ser536Ile) n.1991G>T | |
X | g.18604664C>A | CA412362515 | CDKL5 | c.1740C>A (p.Ser580Arg) c.1689C>A (p.Ser563Arg) c.1608C>A (p.Ser536Arg) n.1992C>A | |
X | g.18604664C>G | CA412362517 | CDKL5 | c.1740C>G (p.Ser580Arg) c.1689C>G (p.Ser563Arg) c.1608C>G (p.Ser536Arg) n.1992C>G | |
X | g.18604664C>T | CA515627927 | CDKL5 | c.1740C>T (p.Ser580=) c.1689C>T (p.Ser563=) c.1608C>T (p.Ser536=) n.1992C>T | |
X | g.18604665del | CA2740092031 | CDKL5 | c.1741del (p.His581IlefsTer?) c.1690del (p.His564IlefsTer?) c.1609del (p.His537IlefsTer?) n.1993del | ClinVar |
X | g.18604665C>A | CA412362519 | CDKL5 | c.1741C>A (p.His581Asn) c.1690C>A (p.His564Asn) c.1609C>A (p.His537Asn) n.1993C>A | |
X | g.18604665C= | CA2417974482 | CDKL5 | c.1741C= (p.His581=) c.1690C= (p.His564=) c.1609C= (p.His537=) n.1993C= | |
X | g.18604665C>G | CA412362523 | CDKL5 | c.1741C>G (p.His581Asp) c.1690C>G (p.His564Asp) c.1609C>G (p.His537Asp) n.1993C>G | |
X | g.18604665C>T | CA412362522 | CDKL5 | c.1741C>T (p.His581Tyr) c.1690C>T (p.His564Tyr) c.1609C>T (p.His537Tyr) n.1993C>T | |
X | g.18604666A>C | CA412362525 | CDKL5 | c.1742A>C (p.His581Pro) c.1691A>C (p.His564Pro) c.1610A>C (p.His537Pro) n.1994A>C | |
X | g.18604666A>G | CA412362528 | CDKL5 | c.1742A>G (p.His581Arg) c.1691A>G (p.His564Arg) c.1610A>G (p.His537Arg) n.1994A>G | gnomAD v4 |
X | g.18604666A>T | CA412362527 | CDKL5 | c.1742A>T (p.His581Leu) c.1691A>T (p.His564Leu) c.1610A>T (p.His537Leu) n.1994A>T | |
X | g.18604666dup | CA915950768 | CDKL5 | c.1742dup (p.His581GlnfsTer30) c.1691dup (p.His564GlnfsTer30) c.1610dup (p.His537GlnfsTer30) n.1994dup | ClinVar dbSNP |
X | g.18604667T>A | CA412362530 | CDKL5 | c.1743T>A (p.His581Gln) c.1692T>A (p.His564Gln) c.1611T>A (p.His537Gln) n.1995T>A | |
X | g.18604667T>C | CA515627928 | CDKL5 | c.1743T>C (p.His581=) c.1692T>C (p.His564=) c.1611T>C (p.His537=) n.1995T>C | ClinVar dbSNP gnomAD v4 |
X | g.18604667T>G | CA412362532 | CDKL5 | c.1743T>G (p.His581Gln) c.1692T>G (p.His564Gln) c.1611T>G (p.His537Gln) n.1995T>G | |
X | g.18604667T= | CA2417974483 | CDKL5 | c.1743T= (p.His581=) c.1692T= (p.His564=) c.1611T= (p.His537=) n.1995T= | |
X | g.18604668dup | CA2580100473 | CDKL5 | c.1744dup (p.Ser582PhefsTer29) c.1693dup (p.Ser565PhefsTer29) c.1612dup (p.Ser538PhefsTer29) n.1996dup | ClinVar |
X | g.18604668del | CA2825002898 | CDKL5 | c.1744del (p.Ser582ProfsTer?) c.1693del (p.Ser565ProfsTer?) c.1612del (p.Ser538ProfsTer?) n.1996del | ClinVar |
X | g.18604668T>A | CA412362534 | CDKL5 | c.1744T>A (p.Ser582Thr) c.1693T>A (p.Ser565Thr) c.1612T>A (p.Ser538Thr) n.1996T>A | gnomAD v4 |
X | g.18604668T>C | CA412362536 | CDKL5 | c.1744T>C (p.Ser582Pro) c.1693T>C (p.Ser565Pro) c.1612T>C (p.Ser538Pro) n.1996T>C | |
X | g.18604668T>G | CA412362538 | CDKL5 | c.1744T>G (p.Ser582Ala) c.1693T>G (p.Ser565Ala) c.1612T>G (p.Ser538Ala) n.1996T>G | gnomAD v4 |
X | g.18604669C>A | CA412362540 | CDKL5 | c.1745C>A (p.Ser582Tyr) c.1694C>A (p.Ser565Tyr) c.1613C>A (p.Ser538Tyr) n.1997C>A | |
X | g.18604669C= | CA2417974484 | CDKL5 | c.1745C= (p.Ser582=) c.1694C= (p.Ser565=) c.1613C= (p.Ser538=) n.1997C= | |
X | g.18604669C>G | CA412362542 | CDKL5 | c.1745C>G (p.Ser582Cys) c.1694C>G (p.Ser565Cys) c.1613C>G (p.Ser538Cys) n.1997C>G | |
X | g.18604669C>T | CA412362544 | CDKL5 | c.1745C>T (p.Ser582Phe) c.1694C>T (p.Ser565Phe) c.1613C>T (p.Ser538Phe) n.1997C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.18604670C>A | CA515627929 | CDKL5 | c.1746C>A (p.Ser582=) c.1695C>A (p.Ser565=) c.1614C>A (p.Ser538=) n.1998C>A | |
X | g.18604670C>G | CA515627930 | CDKL5 | c.1746C>G (p.Ser582=) c.1695C>G (p.Ser565=) c.1614C>G (p.Ser538=) n.1998C>G | |
X | g.18604670C>T | CA515627931 | CDKL5 | c.1746C>T (p.Ser582=) c.1695C>T (p.Ser565=) c.1614C>T (p.Ser538=) n.1998C>T | |
X | g.18604671C>A | CA412362546 | CDKL5 | c.1747C>A (p.His583Asn) c.1696C>A (p.His566Asn) c.1615C>A (p.His539Asn) n.1999C>A | |
X | g.18604671C= | CA2417974485 | CDKL5 | c.1747C= (p.His583=) c.1696C= (p.His566=) c.1615C= (p.His539=) n.1999C= | |
X | g.18604671C>G | CA412362548 | CDKL5 | c.1747C>G (p.His583Asp) c.1696C>G (p.His566Asp) c.1615C>G (p.His539Asp) n.1999C>G | |
X | g.18604671C>T | CA412362550 | CDKL5 | c.1747C>T (p.His583Tyr) c.1696C>T (p.His566Tyr) c.1615C>T (p.His539Tyr) n.1999C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604672A>C | CA412362556 | CDKL5 | c.1748A>C (p.His583Pro) c.1697A>C (p.His566Pro) c.1616A>C (p.His539Pro) n.2000A>C | |
X | g.18604672A>G | CA412362552 | CDKL5 | c.1748A>G (p.His583Arg) c.1697A>G (p.His566Arg) c.1616A>G (p.His539Arg) n.2000A>G | |
X | g.18604672A>T | CA412362554 | CDKL5 | c.1748A>T (p.His583Leu) c.1697A>T (p.His566Leu) c.1616A>T (p.His539Leu) n.2000A>T | |
X | g.18604673T>A | CA412362558 | CDKL5 | c.1749T>A (p.His583Gln) c.1698T>A (p.His566Gln) c.1617T>A (p.His539Gln) n.2001T>A | |
X | g.18604673T>C | CA515627932 | CDKL5 | c.1749T>C (p.His583=) c.1698T>C (p.His566=) c.1617T>C (p.His539=) n.2001T>C | |
X | g.18604673T>G | CA412362560 | CDKL5 | c.1749T>G (p.His583Gln) c.1698T>G (p.His566Gln) c.1617T>G (p.His539Gln) n.2001T>G | |
X | g.18604674T>A | CA412362562 | CDKL5 | c.1750T>A (p.Ser584Thr) c.1699T>A (p.Ser567Thr) c.1618T>A (p.Ser540Thr) n.2002T>A | |
X | g.18604674T>C | CA412362563 | CDKL5 | c.1750T>C (p.Ser584Pro) c.1699T>C (p.Ser567Pro) c.1618T>C (p.Ser540Pro) n.2002T>C | |
X | g.18604674T>G | CA412362564 | CDKL5 | c.1750T>G (p.Ser584Ala) c.1699T>G (p.Ser567Ala) c.1618T>G (p.Ser540Ala) n.2002T>G | |
X | g.18604675C>A | CA412362566 | CDKL5 | c.1751C>A (p.Ser584Ter) c.1700C>A (p.Ser567Ter) c.1619C>A (p.Ser540Ter) n.2003C>A | |
X | g.18604675C>G | CA412362568 | CDKL5 | c.1751C>G (p.Ser584Ter) c.1700C>G (p.Ser567Ter) c.1619C>G (p.Ser540Ter) n.2003C>G | |
X | g.18604675C>T | CA412362570 | CDKL5 | c.1751C>T (p.Ser584Leu) c.1700C>T (p.Ser567Leu) c.1619C>T (p.Ser540Leu) n.2003C>T | |
X | g.18604676A= | CA2417974486 | CDKL5 | c.1752A= (p.Ser584=) c.1701A= (p.Ser567=) c.1620A= (p.Ser540=) n.2004A= | |
X | g.18604676A>C | CA515627933 | CDKL5 | c.1752A>C (p.Ser584=) c.1701A>C (p.Ser567=) c.1620A>C (p.Ser540=) n.2004A>C | |
X | g.18604676A>G | CA515627934 | CDKL5 | c.1752A>G (p.Ser584=) c.1701A>G (p.Ser567=) c.1620A>G (p.Ser540=) n.2004A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604676A>T | CA515627935 | CDKL5 | c.1752A>T (p.Ser584=) c.1701A>T (p.Ser567=) c.1620A>T (p.Ser540=) n.2004A>T | |
X | g.18604676_18604680delinsACTGT | CA2417974487 | CDKL5 | c.1752_1756delinsACTGT (p.Ser584=) c.1701_1705delinsACTGT (p.Ser567=) c.1620_1624delinsACTGT (p.Ser540=) n.2004_2008delinsACTGT | |
X | g.18604677C>A | CA412362572 | CDKL5 | c.1753C>A (p.Leu585Met) c.1702C>A (p.Leu568Met) c.1621C>A (p.Leu541Met) n.2005C>A | |
X | g.18604677C>G | CA412362574 | CDKL5 | c.1753C>G (p.Leu585Val) c.1702C>G (p.Leu568Val) c.1621C>G (p.Leu541Val) n.2005C>G | |
X | g.18604677C>T | CA515627936 | CDKL5 | c.1753C>T (p.Leu585=) c.1702C>T (p.Leu568=) c.1621C>T (p.Leu541=) n.2005C>T | |
X | g.18604677_18604679delinsCTG | CA2417974488 | CDKL5 | c.1753_1755delinsCTG (p.Leu585=) c.1702_1704delinsCTG (p.Leu568=) c.1621_1623delinsCTG (p.Leu541=) n.2005_2007delinsCTG | |
X | g.18604680_18604683del | CA1139667245 | CDKL5 | c.1756_1759del (p.Ser586HisfsTer29) c.1705_1708del (p.Ser569HisfsTer29) c.1624_1627del (p.Ser542HisfsTer29) n.2008_2011del | ClinVar dbSNP |
X | g.18604678T>A | CA412362579 | CDKL5 | c.1754T>A (p.Leu585Gln) c.1703T>A (p.Leu568Gln) c.1622T>A (p.Leu541Gln) n.2006T>A | |
X | g.18604678T>C | CA412362578 | CDKL5 | c.1754T>C (p.Leu585Pro) c.1703T>C (p.Leu568Pro) c.1622T>C (p.Leu541Pro) n.2006T>C | |
X | g.18604678T>G | CA412362576 | CDKL5 | c.1754T>G (p.Leu585Arg) c.1703T>G (p.Leu568Arg) c.1622T>G (p.Leu541Arg) n.2006T>G | gnomAD v4 |
X | g.18604679_18604680del | CA916083843 | CDKL5 | c.1755_1756del (p.Ser586CysfsTer24) c.1704_1705del (p.Ser569CysfsTer24) c.1623_1624del (p.Ser542CysfsTer24) n.2007_2008del | ClinVar dbSNP |
X | g.18604679G>A | CA10360414 | CDKL5 | c.1755G>A (p.Leu585=) c.1704G>A (p.Leu568=) c.1623G>A (p.Leu541=) n.2007G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.18604679G>C | CA10360413 | CDKL5 | c.1755G>C (p.Leu585=) c.1704G>C (p.Leu568=) c.1623G>C (p.Leu541=) n.2007G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604679G= | CA2417974489 | CDKL5 | c.1755G= (p.Leu585=) c.1704G= (p.Leu568=) c.1623G= (p.Leu541=) n.2007G= | |
X | g.18604679G>T | CA515627937 | CDKL5 | c.1755G>T (p.Leu585=) c.1704G>T (p.Leu568=) c.1623G>T (p.Leu541=) n.2007G>T | |
X | g.18604680T>A | CA412362583 | CDKL5 | c.1756T>A (p.Ser586Thr) c.1705T>A (p.Ser569Thr) c.1624T>A (p.Ser542Thr) n.2008T>A | |
X | g.18604680T>C | CA412362585 | CDKL5 | c.1756T>C (p.Ser586Pro) c.1705T>C (p.Ser569Pro) c.1624T>C (p.Ser542Pro) n.2008T>C | |
X | g.18604680T>G | CA412362587 | CDKL5 | c.1756T>G (p.Ser586Ala) c.1705T>G (p.Ser569Ala) c.1624T>G (p.Ser542Ala) n.2008T>G | |
X | g.18604681_18604682del | CA2695231320 | CDKL5 | c.1757_1758del (p.Ser586CysfsTer24) c.1706_1707del (p.Ser569CysfsTer24) c.1625_1626del (p.Ser542CysfsTer24) n.2009_2010del | |
X | g.18604681C>A | CA412362589 | CDKL5 | c.1757C>A (p.Ser586Tyr) c.1706C>A (p.Ser569Tyr) c.1625C>A (p.Ser542Tyr) n.2009C>A | |
X | g.18604681C>G | CA412362591 | CDKL5 | c.1757C>G (p.Ser586Cys) c.1706C>G (p.Ser569Cys) c.1625C>G (p.Ser542Cys) n.2009C>G | |
X | g.18604681C>T | CA412362593 | CDKL5 | c.1757C>T (p.Ser586Phe) c.1706C>T (p.Ser569Phe) c.1625C>T (p.Ser542Phe) n.2009C>T | |
X | g.18604682T>A | CA515627938 | CDKL5 | c.1758T>A (p.Ser586=) c.1707T>A (p.Ser569=) c.1626T>A (p.Ser542=) n.2010T>A | |
X | g.18604682T>C | CA515627940 | CDKL5 | c.1758T>C (p.Ser586=) c.1707T>C (p.Ser569=) c.1626T>C (p.Ser542=) n.2010T>C | |
X | g.18604682T>G | CA515627939 | CDKL5 | c.1758T>G (p.Ser586=) c.1707T>G (p.Ser569=) c.1626T>G (p.Ser542=) n.2010T>G | |
X | g.18604683G>A | CA412362594 | CDKL5 | c.1759G>A (p.Ala587Thr) c.1708G>A (p.Ala570Thr) c.1627G>A (p.Ala543Thr) n.2011G>A | |
X | g.18604683G>C | CA412362597 | CDKL5 | c.1759G>C (p.Ala587Pro) c.1708G>C (p.Ala570Pro) c.1627G>C (p.Ala543Pro) n.2011G>C | |
X | g.18604683G>T | CA412362599 | CDKL5 | c.1759G>T (p.Ala587Ser) c.1708G>T (p.Ala570Ser) c.1627G>T (p.Ala543Ser) n.2011G>T | |
X | g.18604684C>A | CA412362604 | CDKL5 | c.1760C>A (p.Ala587Glu) c.1709C>A (p.Ala570Glu) c.1628C>A (p.Ala543Glu) n.2012C>A | |
X | g.18604684C= | CA2417974490 | CDKL5 | c.1760C= (p.Ala587=) c.1709C= (p.Ala570=) c.1628C= (p.Ala543=) n.2012C= | |
X | g.18604684C>G | CA412362602 | CDKL5 | c.1760C>G (p.Ala587Gly) c.1709C>G (p.Ala570Gly) c.1628C>G (p.Ala543Gly) n.2012C>G | |
X | g.18604684C>T | CA412362601 | CDKL5 | c.1760C>T (p.Ala587Val) c.1709C>T (p.Ala570Val) c.1628C>T (p.Ala543Val) n.2012C>T | dbSNP |
X | g.18604685A>C | CA515627941 | CDKL5 | c.1761A>C (p.Ala587=) c.1710A>C (p.Ala570=) c.1629A>C (p.Ala543=) n.2013A>C | |
X | g.18604685A>G | CA515627942 | CDKL5 | c.1761A>G (p.Ala587=) c.1710A>G (p.Ala570=) c.1629A>G (p.Ala543=) n.2013A>G | |
X | g.18604685A>T | CA515627943 | CDKL5 | c.1761A>T (p.Ala587=) c.1710A>T (p.Ala570=) c.1629A>T (p.Ala543=) n.2013A>T | |
X | g.18604686C>A | CA412362606 | CDKL5 | c.1762C>A (p.Pro588Thr) c.1711C>A (p.Pro571Thr) c.1630C>A (p.Pro544Thr) n.2014C>A | |
X | g.18604686C= | CA2417974491 | CDKL5 | c.1762C= (p.Pro588=) c.1711C= (p.Pro571=) c.1630C= (p.Pro544=) n.2014C= | |
X | g.18604686C>G | CA412362608 | CDKL5 | c.1762C>G (p.Pro588Ala) c.1711C>G (p.Pro571Ala) c.1630C>G (p.Pro544Ala) n.2014C>G | |
X | g.18604686C>T | CA10360415 | CDKL5 | c.1762C>T (p.Pro588Ser) c.1711C>T (p.Pro571Ser) c.1630C>T (p.Pro544Ser) n.2014C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |