Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
X | g.18604687C>A | CA412362611 | CDKL5 | c.1763C>A (p.Pro588His) c.1712C>A (p.Pro571His) c.1631C>A (p.Pro544His) n.2015C>A | |
X | g.18604687C>G | CA412362613 | CDKL5 | c.1763C>G (p.Pro588Arg) c.1712C>G (p.Pro571Arg) c.1631C>G (p.Pro544Arg) n.2015C>G | |
X | g.18604687C>T | CA412362615 | CDKL5 | c.1763C>T (p.Pro588Leu) c.1712C>T (p.Pro571Leu) c.1631C>T (p.Pro544Leu) n.2015C>T | gnomAD v4 |
X | g.18604688T>A | CA515627944 | CDKL5 | c.1764T>A (p.Pro588=) c.1713T>A (p.Pro571=) c.1632T>A (p.Pro544=) n.2016T>A | |
X | g.18604688T>C | CA515627945 | CDKL5 | c.1764T>C (p.Pro588=) c.1713T>C (p.Pro571=) c.1632T>C (p.Pro544=) n.2016T>C | |
X | g.18604688T>G | CA515627946 | CDKL5 | c.1764T>G (p.Pro588=) c.1713T>G (p.Pro571=) c.1632T>G (p.Pro544=) n.2016T>G | gnomAD v4 |
X | g.18604689C>A | CA412362616 | CDKL5 | c.1765C>A (p.His589Asn) c.1714C>A (p.His572Asn) c.1633C>A (p.His545Asn) n.2017C>A | |
X | g.18604689C>G | CA412362618 | CDKL5 | c.1765C>G (p.His589Asp) c.1714C>G (p.His572Asp) c.1633C>G (p.His545Asp) n.2017C>G | |
X | g.18604689C>T | CA412362620 | CDKL5 | c.1765C>T (p.His589Tyr) c.1714C>T (p.His572Tyr) c.1633C>T (p.His545Tyr) n.2017C>T | |
X | g.18604690A>C | CA412362622 | CDKL5 | c.1766A>C (p.His589Pro) c.1715A>C (p.His572Pro) c.1634A>C (p.His545Pro) n.2018A>C | |
X | g.18604690A>G | CA412362624 | CDKL5 | c.1766A>G (p.His589Arg) c.1715A>G (p.His572Arg) c.1634A>G (p.His545Arg) n.2018A>G | ClinVar dbSNP gnomAD v4 |
X | g.18604690A>T | CA412362626 | CDKL5 | c.1766A>T (p.His589Leu) c.1715A>T (p.His572Leu) c.1634A>T (p.His545Leu) n.2018A>T | |
X | g.18604691C>A | CA412362629 | CDKL5 | c.1767C>A (p.His589Gln) c.1716C>A (p.His572Gln) c.1635C>A (p.His545Gln) n.2019C>A | |
X | g.18604691C= | CA2417974492 | CDKL5 | c.1767C= (p.His589=) c.1716C= (p.His572=) c.1635C= (p.His545=) n.2019C= | |
X | g.18604691C>G | CA412362631 | CDKL5 | c.1767C>G (p.His589Gln) c.1716C>G (p.His572Gln) c.1635C>G (p.His545Gln) n.2019C>G | |
X | g.18604691C>T | CA170454 | CDKL5 | c.1767C>T (p.His589=) c.1716C>T (p.His572=) c.1635C>T (p.His545=) n.2019C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604692G>A | CA10360416 | CDKL5 | c.1768G>A (p.Glu590Lys) c.1717G>A (p.Glu573Lys) c.1636G>A (p.Glu546Lys) n.2020G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18604692G>C | CA412362634 | CDKL5 | c.1768G>C (p.Glu590Gln) c.1717G>C (p.Glu573Gln) c.1636G>C (p.Glu546Gln) n.2020G>C | |
X | g.18604692G= | CA2417974493 | CDKL5 | c.1768G= (p.Glu590=) c.1717G= (p.Glu573=) c.1636G= (p.Glu546=) n.2020G= | |
X | g.18604692G>T | CA412362636 | CDKL5 | c.1768G>T (p.Glu590Ter) c.1717G>T (p.Glu573Ter) c.1636G>T (p.Glu546Ter) n.2020G>T | |
X | g.18604693A>C | CA412362639 | CDKL5 | c.1769A>C (p.Glu590Ala) c.1718A>C (p.Glu573Ala) c.1637A>C (p.Glu546Ala) n.2021A>C | |
X | g.18604693A>G | CA412362640 | CDKL5 | c.1769A>G (p.Glu590Gly) c.1718A>G (p.Glu573Gly) c.1637A>G (p.Glu546Gly) n.2021A>G | |
X | g.18604693A>T | CA412362642 | CDKL5 | c.1769A>T (p.Glu590Val) c.1718A>T (p.Glu573Val) c.1637A>T (p.Glu546Val) n.2021A>T | |
X | g.18604694A>C | CA412362644 | CDKL5 | c.1770A>C (p.Glu590Asp) c.1719A>C (p.Glu573Asp) c.1638A>C (p.Glu546Asp) n.2022A>C | |
X | g.18604694A>G | CA515627947 | CDKL5 | c.1770A>G (p.Glu590=) c.1719A>G (p.Glu573=) c.1638A>G (p.Glu546=) n.2022A>G | |
X | g.18604694A>T | CA412362645 | CDKL5 | c.1770A>T (p.Glu590Asp) c.1719A>T (p.Glu573Asp) c.1638A>T (p.Glu546Asp) n.2022A>T | |
X | g.18604694_18604695insCCAAACACACCCAACACA | CA2819902322 | CDKL5 | c.1770_1771insCCAAACACACCCAACACA (p.Glu590_Ser591insProAsnThrProAsnThr) c.1719_1720insCCAAACACACCCAACACA (p.Glu573_Ser574insProAsnThrProAsnThr) c.1638_1639insCCAAACACACCCAACACA (p.Glu546_Ser547insProAsnThrProAsnThr) n.2022_2023insCCAAACACACCCAACACA | |
X | g.18604695T>A | CA412362648 | CDKL5 | c.1771T>A (p.Ser591Thr) c.1720T>A (p.Ser574Thr) c.1639T>A (p.Ser547Thr) n.2023T>A | |
X | g.18604695T>C | CA412362650 | CDKL5 | c.1771T>C (p.Ser591Pro) c.1720T>C (p.Ser574Pro) c.1639T>C (p.Ser547Pro) n.2023T>C | gnomAD v4 |
X | g.18604695T>G | CA412362652 | CDKL5 | c.1771T>G (p.Ser591Ala) c.1720T>G (p.Ser574Ala) c.1639T>G (p.Ser547Ala) n.2023T>G | |
X | g.18604696C>A | CA412362654 | CDKL5 | c.1772C>A (p.Ser591Tyr) c.1721C>A (p.Ser574Tyr) c.1640C>A (p.Ser547Tyr) n.2024C>A | |
X | g.18604696C>G | CA412362656 | CDKL5 | c.1772C>G (p.Ser591Cys) c.1721C>G (p.Ser574Cys) c.1640C>G (p.Ser547Cys) n.2024C>G | ClinVar |
X | g.18604696C>T | CA412362657 | CDKL5 | c.1772C>T (p.Ser591Phe) c.1721C>T (p.Ser574Phe) c.1640C>T (p.Ser547Phe) n.2024C>T | |
X | g.18604696_18604698delinsCTT | CA2417974494 | CDKL5 | c.1772_1774delinsCTT (p.Ser591=) c.1721_1723delinsCTT (p.Ser574=) c.1640_1642delinsCTT (p.Ser547=) n.2024_2026delinsCTT | |
X | g.18604697T>A | CA515627949 | CDKL5 | c.1773T>A (p.Ser591=) c.1722T>A (p.Ser574=) c.1641T>A (p.Ser547=) n.2025T>A | gnomAD v4 |
X | g.18604697T>C | CA515627950 | CDKL5 | c.1773T>C (p.Ser591=) c.1722T>C (p.Ser574=) c.1641T>C (p.Ser547=) n.2025T>C | |
X | g.18604697T>G | CA515627951 | CDKL5 | c.1773T>G (p.Ser591=) c.1722T>G (p.Ser574=) c.1641T>G (p.Ser547=) n.2025T>G | |
X | g.18604701del | CA16621279 | CDKL5 | c.1777del (p.Ser593LeufsTer23) c.1726del (p.Ser576LeufsTer23) c.1645del (p.Ser549LeufsTer23) n.2029del | ClinVar dbSNP |
X | g.18604700_18604701del | CA16621278 | CDKL5 | c.1776_1777del (p.Ser593LeufsTer17) c.1725_1726del (p.Ser576LeufsTer17) c.1644_1645del (p.Ser549LeufsTer17) n.2028_2029del | ClinVar dbSNP |
X | g.18604698T>A | CA412362660 | CDKL5 | c.1774T>A (p.Phe592Ile) c.1723T>A (p.Phe575Ile) c.1642T>A (p.Phe548Ile) n.2026T>A | |
X | g.18604698T>C | CA412362664 | CDKL5 | c.1774T>C (p.Phe592Leu) c.1723T>C (p.Phe575Leu) c.1642T>C (p.Phe548Leu) n.2026T>C | |
X | g.18604698T>G | CA412362661 | CDKL5 | c.1774T>G (p.Phe592Val) c.1723T>G (p.Phe575Val) c.1642T>G (p.Phe548Val) n.2026T>G | |
X | g.18604699T>A | CA412362666 | CDKL5 | c.1775T>A (p.Phe592Tyr) c.1724T>A (p.Phe575Tyr) c.1643T>A (p.Phe548Tyr) n.2027T>A | |
X | g.18604699T>C | CA412362667 | CDKL5 | c.1775T>C (p.Phe592Ser) c.1724T>C (p.Phe575Ser) c.1643T>C (p.Phe548Ser) n.2027T>C | |
X | g.18604699T>G | CA412362668 | CDKL5 | c.1775T>G (p.Phe592Cys) c.1724T>G (p.Phe575Cys) c.1643T>G (p.Phe548Cys) n.2027T>G | |
X | g.18604700T>A | CA412362670 | CDKL5 | c.1776T>A (p.Phe592Leu) c.1725T>A (p.Phe575Leu) c.1644T>A (p.Phe548Leu) n.2028T>A | |
X | g.18604700T>C | CA515627953 | CDKL5 | c.1776T>C (p.Phe592=) c.1725T>C (p.Phe575=) c.1644T>C (p.Phe548=) n.2028T>C | |
X | g.18604700T>G | CA412362672 | CDKL5 | c.1776T>G (p.Phe592Leu) c.1725T>G (p.Phe575Leu) c.1644T>G (p.Phe548Leu) n.2028T>G | |
X | g.18604701T>A | CA412362674 | CDKL5 | c.1777T>A (p.Ser593Thr) c.1726T>A (p.Ser576Thr) c.1645T>A (p.Ser549Thr) n.2029T>A | |
X | g.18604701T>C | CA412362675 | CDKL5 | c.1777T>C (p.Ser593Pro) c.1726T>C (p.Ser576Pro) c.1645T>C (p.Ser549Pro) n.2029T>C | |
X | g.18604701T>G | CA412362677 | CDKL5 | c.1777T>G (p.Ser593Ala) c.1726T>G (p.Ser576Ala) c.1645T>G (p.Ser549Ala) n.2029T>G | |
X | g.18604702C>A | CA412362680 | CDKL5 | c.1778C>A (p.Ser593Tyr) c.1727C>A (p.Ser576Tyr) c.1646C>A (p.Ser549Tyr) n.2030C>A | COSMIC |
X | g.18604702C>G | CA412362682 | CDKL5 | c.1778C>G (p.Ser593Cys) c.1727C>G (p.Ser576Cys) c.1646C>G (p.Ser549Cys) n.2030C>G | |
X | g.18604702C>T | CA412362684 | CDKL5 | c.1778C>T (p.Ser593Phe) c.1727C>T (p.Ser576Phe) c.1646C>T (p.Ser549Phe) n.2030C>T | |
X | g.18604703T>A | CA515627959 | CDKL5 | c.1779T>A (p.Ser593=) c.1728T>A (p.Ser576=) c.1647T>A (p.Ser549=) n.2031T>A | |
X | g.18604703T>C | CA515627960 | CDKL5 | c.1779T>C (p.Ser593=) c.1728T>C (p.Ser576=) c.1647T>C (p.Ser549=) n.2031T>C | |
X | g.18604703T>G | CA515627958 | CDKL5 | c.1779T>G (p.Ser593=) c.1728T>G (p.Ser576=) c.1647T>G (p.Ser549=) n.2031T>G | |
X | g.18604704T>A | CA412362688 | CDKL5 | c.1780T>A (p.Tyr594Asn) c.1729T>A (p.Tyr577Asn) c.1648T>A (p.Tyr550Asn) n.2032T>A | |
X | g.18604704T>C | CA412362690 | CDKL5 | c.1780T>C (p.Tyr594His) c.1729T>C (p.Tyr577His) c.1648T>C (p.Tyr550His) n.2032T>C | |
X | g.18604704T>G | CA412362686 | CDKL5 | c.1780T>G (p.Tyr594Asp) c.1729T>G (p.Tyr577Asp) c.1648T>G (p.Tyr550Asp) n.2032T>G | |
X | g.18604705A>C | CA412362693 | CDKL5 | c.1781A>C (p.Tyr594Ser) c.1730A>C (p.Tyr577Ser) c.1649A>C (p.Tyr550Ser) n.2033A>C | |
X | g.18604705A>G | CA412362695 | CDKL5 | c.1781A>G (p.Tyr594Cys) c.1730A>G (p.Tyr577Cys) c.1649A>G (p.Tyr550Cys) n.2033A>G | |
X | g.18604705A>T | CA412362697 | CDKL5 | c.1781A>T (p.Tyr594Phe) c.1730A>T (p.Tyr577Phe) c.1649A>T (p.Tyr550Phe) n.2033A>T | |
X | g.18604706T>A | CA412362700 | CDKL5 | c.1782T>A (p.Tyr594Ter) c.1731T>A (p.Tyr577Ter) c.1650T>A (p.Tyr550Ter) n.2034T>A | |
X | g.18604706T>C | CA10360417 | CDKL5 | c.1782T>C (p.Tyr594=) c.1731T>C (p.Tyr577=) c.1650T>C (p.Tyr550=) n.2034T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604706T>G | CA412362704 | CDKL5 | c.1782T>G (p.Tyr594Ter) c.1731T>G (p.Tyr577Ter) c.1650T>G (p.Tyr550Ter) n.2034T>G | |
X | g.18604706T= | CA2417974495 | CDKL5 | c.1782T= (p.Tyr594=) c.1731T= (p.Tyr577=) c.1650T= (p.Tyr550=) n.2034T= | |
X | g.18604707G>A | CA412362707 | CDKL5 | c.1783G>A (p.Gly595Arg) c.1732G>A (p.Gly578Arg) c.1651G>A (p.Gly551Arg) n.2035G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604707G>C | CA412362710 | CDKL5 | c.1783G>C (p.Gly595Arg) c.1732G>C (p.Gly578Arg) c.1651G>C (p.Gly551Arg) n.2035G>C | |
X | g.18604707G= | CA2417974496 | CDKL5 | c.1783G= (p.Gly595=) c.1732G= (p.Gly578=) c.1651G= (p.Gly551=) n.2035G= | |
X | g.18604707G>T | CA412362713 | CDKL5 | c.1783G>T (p.Gly595Ter) c.1732G>T (p.Gly578Ter) c.1651G>T (p.Gly551Ter) n.2035G>T | |
X | g.18604708dup | CA199383 | CDKL5 | c.1784dup (p.Leu596ThrfsTer15) c.1733dup (p.Leu579ThrfsTer15) c.1652dup (p.Leu552ThrfsTer15) n.2036dup | ClinVar dbSNP |
X | g.18604708G>A | CA412362716 | CDKL5 | c.1784G>A (p.Gly595Glu) c.1733G>A (p.Gly578Glu) c.1652G>A (p.Gly551Glu) n.2036G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604708G>C | CA412362720 | CDKL5 | c.1784G>C (p.Gly595Ala) c.1733G>C (p.Gly578Ala) c.1652G>C (p.Gly551Ala) n.2036G>C | |
X | g.18604708G= | CA2417974497 | CDKL5 | c.1784G= (p.Gly595=) c.1733G= (p.Gly578=) c.1652G= (p.Gly551=) n.2036G= | |
X | g.18604708G>T | CA412362722 | CDKL5 | c.1784G>T (p.Gly595Val) c.1733G>T (p.Gly578Val) c.1652G>T (p.Gly551Val) n.2036G>T | |
X | g.18604709del | CA2695231322 | CDKL5 | c.1785del (p.Leu596TrpfsTer20) c.1734del (p.Leu579TrpfsTer20) c.1653del (p.Leu552TrpfsTer20) n.2037del | |
X | g.18604709A>C | CA515627963 | CDKL5 | c.1785A>C (p.Gly595=) c.1734A>C (p.Gly578=) c.1653A>C (p.Gly551=) n.2037A>C | |
X | g.18604709A>G | CA515627964 | CDKL5 | c.1785A>G (p.Gly595=) c.1734A>G (p.Gly578=) c.1653A>G (p.Gly551=) n.2037A>G | |
X | g.18604709A>T | CA515627965 | CDKL5 | c.1785A>T (p.Gly595=) c.1734A>T (p.Gly578=) c.1653A>T (p.Gly551=) n.2037A>T | |
X | g.18604710C>A | CA412362729 | CDKL5 | c.1786C>A (p.Leu596Met) c.1735C>A (p.Leu579Met) c.1654C>A (p.Leu552Met) n.2038C>A | |
X | g.18604710C= | CA2417974498 | CDKL5 | c.1786C= (p.Leu596=) c.1735C= (p.Leu579=) c.1654C= (p.Leu552=) n.2038C= | |
X | g.18604710C>G | CA412362732 | CDKL5 | c.1786C>G (p.Leu596Val) c.1735C>G (p.Leu579Val) c.1654C>G (p.Leu552Val) n.2038C>G | |
X | g.18604710C>T | CA10360418 | CDKL5 | c.1786C>T (p.Leu596=) c.1735C>T (p.Leu579=) c.1654C>T (p.Leu552=) n.2038C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604711T>A | CA412362735 | CDKL5 | c.1787T>A (p.Leu596Gln) c.1736T>A (p.Leu579Gln) c.1655T>A (p.Leu552Gln) n.2039T>A | |
X | g.18604711T>C | CA412362736 | CDKL5 | c.1787T>C (p.Leu596Pro) c.1736T>C (p.Leu579Pro) c.1655T>C (p.Leu552Pro) n.2039T>C | |
X | g.18604711T>G | CA412362740 | CDKL5 | c.1787T>G (p.Leu596Arg) c.1736T>G (p.Leu579Arg) c.1655T>G (p.Leu552Arg) n.2039T>G | |
X | g.18604712G>A | CA515627968 | CDKL5 | c.1788G>A (p.Leu596=) c.1737G>A (p.Leu579=) c.1656G>A (p.Leu552=) n.2040G>A | |
X | g.18604712G>C | CA515627971 | CDKL5 | c.1788G>C (p.Leu596=) c.1737G>C (p.Leu579=) c.1656G>C (p.Leu552=) n.2040G>C | |
X | g.18604712G>T | CA515627973 | CDKL5 | c.1788G>T (p.Leu596=) c.1737G>T (p.Leu579=) c.1656G>T (p.Leu552=) n.2040G>T | COSMIC |
X | g.18604714dup | CA2695231323 | CDKL5 | c.1790dup (p.Tyr598LeufsTer13) c.1739dup (p.Tyr581LeufsTer13) c.1658dup (p.Tyr554LeufsTer13) n.2042dup | |
X | g.18604714del | CA2580100477 | CDKL5 | c.1790del (p.Gly597AlafsTer19) c.1739del (p.Gly580AlafsTer19) c.1658del (p.Gly553AlafsTer19) n.2042del | ClinVar |
X | g.18604713G>A | CA412362744 | CDKL5 | c.1789G>A (p.Gly597Ser) c.1738G>A (p.Gly580Ser) c.1657G>A (p.Gly553Ser) n.2041G>A | |
X | g.18604713G>C | CA412362747 | CDKL5 | c.1789G>C (p.Gly597Arg) c.1738G>C (p.Gly580Arg) c.1657G>C (p.Gly553Arg) n.2041G>C | |
X | g.18604713G>T | CA412362750 | CDKL5 | c.1789G>T (p.Gly597Cys) c.1738G>T (p.Gly580Cys) c.1657G>T (p.Gly553Cys) n.2041G>T | dbSNP |
X | g.18604714G>A | CA412362761 | CDKL5 | c.1790G>A (p.Gly597Asp) c.1739G>A (p.Gly580Asp) c.1658G>A (p.Gly553Asp) n.2042G>A | |
X | g.18604714G>C | CA412362754 | CDKL5 | c.1790G>C (p.Gly597Ala) c.1739G>C (p.Gly580Ala) c.1658G>C (p.Gly553Ala) n.2042G>C | |
X | g.18604714G>T | CA412362757 | CDKL5 | c.1790G>T (p.Gly597Val) c.1739G>T (p.Gly580Val) c.1658G>T (p.Gly553Val) n.2042G>T | |
X | g.18604715del | CA2695231325 | CDKL5 | c.1791del (p.Tyr598ThrfsTer18) c.1740del (p.Tyr581ThrfsTer18) c.1659del (p.Tyr554ThrfsTer18) n.2043del | |
X | g.18604715C>A | CA515627975 | CDKL5 | c.1791C>A (p.Gly597=) c.1740C>A (p.Gly580=) c.1659C>A (p.Gly553=) n.2043C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604715C= | CA2417974499 | CDKL5 | c.1791C= (p.Gly597=) c.1740C= (p.Gly580=) c.1659C= (p.Gly553=) n.2043C= | |
X | g.18604715C>G | CA515627976 | CDKL5 | c.1791C>G (p.Gly597=) c.1740C>G (p.Gly580=) c.1659C>G (p.Gly553=) n.2043C>G | |
X | g.18604715C>T | CA515627978 | CDKL5 | c.1791C>T (p.Gly597=) c.1740C>T (p.Gly580=) c.1659C>T (p.Gly553=) n.2043C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604716T>A | CA412362765 | CDKL5 | c.1792T>A (p.Tyr598Asn) c.1741T>A (p.Tyr581Asn) c.1660T>A (p.Tyr554Asn) n.2044T>A | |
X | g.18604716T>C | CA412362767 | CDKL5 | c.1792T>C (p.Tyr598His) c.1741T>C (p.Tyr581His) c.1660T>C (p.Tyr554His) n.2044T>C | |
X | g.18604716T>G | CA412362770 | CDKL5 | c.1792T>G (p.Tyr598Asp) c.1741T>G (p.Tyr581Asp) c.1660T>G (p.Tyr554Asp) n.2044T>G | |
X | g.18604717A>C | CA412362772 | CDKL5 | c.1793A>C (p.Tyr598Ser) c.1742A>C (p.Tyr581Ser) c.1661A>C (p.Tyr554Ser) n.2045A>C | |
X | g.18604717A>G | CA412362774 | CDKL5 | c.1793A>G (p.Tyr598Cys) c.1742A>G (p.Tyr581Cys) c.1661A>G (p.Tyr554Cys) n.2045A>G | |
X | g.18604717A>T | CA412362777 | CDKL5 | c.1793A>T (p.Tyr598Phe) c.1742A>T (p.Tyr581Phe) c.1661A>T (p.Tyr554Phe) n.2045A>T | |
X | g.18604718C>A | CA412362781 | CDKL5 | c.1794C>A (p.Tyr598Ter) c.1743C>A (p.Tyr581Ter) c.1662C>A (p.Tyr554Ter) n.2046C>A | |
X | g.18604718C= | CA2417974500 | CDKL5 | c.1794C= (p.Tyr598=) c.1743C= (p.Tyr581=) c.1662C= (p.Tyr554=) n.2046C= | |
X | g.18604718C>G | CA412362783 | CDKL5 | c.1794C>G (p.Tyr598Ter) c.1743C>G (p.Tyr581Ter) c.1662C>G (p.Tyr554Ter) n.2046C>G | |
X | g.18604718C>T | CA515627986 | CDKL5 | c.1794C>T (p.Tyr598=) c.1743C>T (p.Tyr581=) c.1662C>T (p.Tyr554=) n.2046C>T | |
X | g.18604719A= | CA2417974501 | CDKL5 | c.1795A= (p.Thr599=) c.1744A= (p.Thr582=) c.1663A= (p.Thr555=) n.2047A= | |
X | g.18604719A>C | CA10360419 | CDKL5 | c.1795A>C (p.Thr599Pro) c.1744A>C (p.Thr582Pro) c.1663A>C (p.Thr555Pro) n.2047A>C | dbSNP ExAC gnomAD v2 |
X | g.18604719A>G | CA16621280 | CDKL5 | c.1795A>G (p.Thr599Ala) c.1744A>G (p.Thr582Ala) c.1663A>G (p.Thr555Ala) n.2047A>G | ClinVar dbSNP gnomAD v4 |
X | g.18604719A>T | CA412362788 | CDKL5 | c.1795A>T (p.Thr599Ser) c.1744A>T (p.Thr582Ser) c.1663A>T (p.Thr555Ser) n.2047A>T | |
X | g.18604719dup | CA294682 | CDKL5 | c.1795dup (p.Thr599AsnfsTer12) c.1744dup (p.Thr582AsnfsTer12) c.1663dup (p.Thr555AsnfsTer12) n.2047dup | ClinVar dbSNP |
X | g.18604720C>A | CA412362794 | CDKL5 | c.1796C>A (p.Thr599Asn) c.1745C>A (p.Thr582Asn) c.1664C>A (p.Thr555Asn) n.2048C>A | |
X | g.18604720C>G | CA412362798 | CDKL5 | c.1796C>G (p.Thr599Ser) c.1745C>G (p.Thr582Ser) c.1664C>G (p.Thr555Ser) n.2048C>G | gnomAD v4 |
X | g.18604720C>T | CA412362796 | CDKL5 | c.1796C>T (p.Thr599Ile) c.1745C>T (p.Thr582Ile) c.1664C>T (p.Thr555Ile) n.2048C>T | |
X | g.18604721dup | CA171620 | CDKL5 | c.1797dup (p.Ser600GlnfsTer11) c.1746dup (p.Ser583GlnfsTer11) c.1665dup (p.Ser556GlnfsTer11) n.2049dup | ClinVar dbSNP |
X | g.18604721C>A | CA515627988 | CDKL5 | c.1797C>A (p.Thr599=) c.1746C>A (p.Thr582=) c.1665C>A (p.Thr555=) n.2049C>A | |
X | g.18604721C= | CA2417974502 | CDKL5 | c.1797C= (p.Thr599=) c.1746C= (p.Thr582=) c.1665C= (p.Thr555=) n.2049C= | |
X | g.18604721C>G | CA147629 | CDKL5 | c.1797C>G (p.Thr599=) c.1746C>G (p.Thr582=) c.1665C>G (p.Thr555=) n.2049C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604721C>T | CA515627990 | CDKL5 | c.1797C>T (p.Thr599=) c.1746C>T (p.Thr582=) c.1665C>T (p.Thr555=) n.2049C>T | |
X | g.18604722A>C | CA412362805 | CDKL5 | c.1798A>C (p.Ser600Arg) c.1747A>C (p.Ser583Arg) c.1666A>C (p.Ser556Arg) n.2050A>C | |
X | g.18604722A>G | CA412362808 | CDKL5 | c.1798A>G (p.Ser600Gly) c.1747A>G (p.Ser583Gly) c.1666A>G (p.Ser556Gly) n.2050A>G | |
X | g.18604722A>T | CA412362810 | CDKL5 | c.1798A>T (p.Ser600Cys) c.1747A>T (p.Ser583Cys) c.1666A>T (p.Ser556Cys) n.2050A>T | |
X | g.18604723G>A | CA412362812 | CDKL5 | c.1799G>A (p.Ser600Asn) c.1748G>A (p.Ser583Asn) c.1667G>A (p.Ser556Asn) n.2051G>A | |
X | g.18604723G>C | CA412362816 | CDKL5 | c.1799G>C (p.Ser600Thr) c.1748G>C (p.Ser583Thr) c.1667G>C (p.Ser556Thr) n.2051G>C | |
X | g.18604723G>T | CA412362819 | CDKL5 | c.1799G>T (p.Ser600Ile) c.1748G>T (p.Ser583Ile) c.1667G>T (p.Ser556Ile) n.2051G>T | ClinVar dbSNP |
X | g.18604724C>A | CA10360421 | CDKL5 | c.1800C>A (p.Ser600Arg) c.1749C>A (p.Ser583Arg) c.1668C>A (p.Ser556Arg) n.2052C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604724C= | CA2417974503 | CDKL5 | c.1800C= (p.Ser600=) c.1749C= (p.Ser583=) c.1668C= (p.Ser556=) n.2052C= | |
X | g.18604724C>G | CA412362824 | CDKL5 | c.1800C>G (p.Ser600Arg) c.1749C>G (p.Ser583Arg) c.1668C>G (p.Ser556Arg) n.2052C>G | |
X | g.18604724C>T | CA10360420 | CDKL5 | c.1800C>T (p.Ser600=) c.1749C>T (p.Ser583=) c.1668C>T (p.Ser556=) n.2052C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604725C>A | CA412362830 | CDKL5 | c.1801C>A (p.Pro601Thr) c.1750C>A (p.Pro584Thr) c.1669C>A (p.Pro557Thr) n.2053C>A | |
X | g.18604725C>G | CA412362832 | CDKL5 | c.1801C>G (p.Pro601Ala) c.1750C>G (p.Pro584Ala) c.1669C>G (p.Pro557Ala) n.2053C>G | |
X | g.18604725C>T | CA412362835 | CDKL5 | c.1801C>T (p.Pro601Ser) c.1750C>T (p.Pro584Ser) c.1669C>T (p.Pro557Ser) n.2053C>T | dbSNP |
X | g.18604726C>A | CA412362837 | CDKL5 | c.1802C>A (p.Pro601His) c.1751C>A (p.Pro584His) c.1670C>A (p.Pro557His) n.2054C>A | |
X | g.18604726C>G | CA412362842 | CDKL5 | c.1802C>G (p.Pro601Arg) c.1751C>G (p.Pro584Arg) c.1670C>G (p.Pro557Arg) n.2054C>G | |
X | g.18604726C>T | CA412362839 | CDKL5 | c.1802C>T (p.Pro601Leu) c.1751C>T (p.Pro584Leu) c.1670C>T (p.Pro557Leu) n.2054C>T | dbSNP |
X | g.18604727C>A | CA515627998 | CDKL5 | c.1803C>A (p.Pro601=) c.1752C>A (p.Pro584=) c.1671C>A (p.Pro557=) n.2055C>A | dbSNP |
X | g.18604727C= | CA2417974504 | CDKL5 | c.1803C= (p.Pro601=) c.1752C= (p.Pro584=) c.1671C= (p.Pro557=) n.2055C= | |
X | g.18604727C>G | CA515628000 | CDKL5 | c.1803C>G (p.Pro601=) c.1752C>G (p.Pro584=) c.1671C>G (p.Pro557=) n.2055C>G | ClinVar gnomAD v4 |
X | g.18604727C>T | CA10360422 | CDKL5 | c.1803C>T (p.Pro601=) c.1752C>T (p.Pro584=) c.1671C>T (p.Pro557=) n.2055C>T | dbSNP ExAC gnomAD v4 |
X | g.18604728T>A | CA412362848 | CDKL5 | c.1804T>A (p.Phe602Ile) c.1753T>A (p.Phe585Ile) c.1672T>A (p.Phe558Ile) n.2056T>A | |
X | g.18604728T>C | CA412362851 | CDKL5 | c.1804T>C (p.Phe602Leu) c.1753T>C (p.Phe585Leu) c.1672T>C (p.Phe558Leu) n.2056T>C | |
X | g.18604728T>G | CA412362853 | CDKL5 | c.1804T>G (p.Phe602Val) c.1753T>G (p.Phe585Val) c.1672T>G (p.Phe558Val) n.2056T>G | |
X | g.18604729T>A | CA412362857 | CDKL5 | c.1805T>A (p.Phe602Tyr) c.1754T>A (p.Phe585Tyr) c.1673T>A (p.Phe558Tyr) n.2057T>A | |
X | g.18604729T>C | CA412362859 | CDKL5 | c.1805T>C (p.Phe602Ser) c.1754T>C (p.Phe585Ser) c.1673T>C (p.Phe558Ser) n.2057T>C | |
X | g.18604729T>G | CA412362861 | CDKL5 | c.1805T>G (p.Phe602Cys) c.1754T>G (p.Phe585Cys) c.1673T>G (p.Phe558Cys) n.2057T>G | |
X | g.18604730T>A | CA412362869 | CDKL5 | c.1806T>A (p.Phe602Leu) c.1755T>A (p.Phe585Leu) c.1674T>A (p.Phe558Leu) n.2058T>A | |
X | g.18604730T>C | CA515628009 | CDKL5 | c.1806T>C (p.Phe602=) c.1755T>C (p.Phe585=) c.1674T>C (p.Phe558=) n.2058T>C | |
X | g.18604730T>G | CA412362872 | CDKL5 | c.1806T>G (p.Phe602Leu) c.1755T>G (p.Phe585Leu) c.1674T>G (p.Phe558Leu) n.2058T>G | |
X | g.18604731T>A | CA412362881 | CDKL5 | c.1807T>A (p.Ser603Thr) c.1756T>A (p.Ser586Thr) c.1675T>A (p.Ser559Thr) n.2059T>A | |
X | g.18604731T>C | CA412362879 | CDKL5 | c.1807T>C (p.Ser603Pro) c.1756T>C (p.Ser586Pro) c.1675T>C (p.Ser559Pro) n.2059T>C | |
X | g.18604731T>G | CA412362877 | CDKL5 | c.1807T>G (p.Ser603Ala) c.1756T>G (p.Ser586Ala) c.1675T>G (p.Ser559Ala) n.2059T>G | |
X | g.18604732C>A | CA412362884 | CDKL5 | c.1808C>A (p.Ser603Tyr) c.1757C>A (p.Ser586Tyr) c.1676C>A (p.Ser559Tyr) n.2060C>A | |
X | g.18604732C>G | CA412362886 | CDKL5 | c.1808C>G (p.Ser603Cys) c.1757C>G (p.Ser586Cys) c.1676C>G (p.Ser559Cys) n.2060C>G | |
X | g.18604732C>T | CA412362888 | CDKL5 | c.1808C>T (p.Ser603Phe) c.1757C>T (p.Ser586Phe) c.1676C>T (p.Ser559Phe) n.2060C>T | COSMIC |
X | g.18604733T>A | CA515628015 | CDKL5 | c.1809T>A (p.Ser603=) c.1758T>A (p.Ser586=) c.1677T>A (p.Ser559=) n.2061T>A | |
X | g.18604733T>C | CA515628016 | CDKL5 | c.1809T>C (p.Ser603=) c.1758T>C (p.Ser586=) c.1677T>C (p.Ser559=) n.2061T>C | |
X | g.18604733T>G | CA515628017 | CDKL5 | c.1809T>G (p.Ser603=) c.1758T>G (p.Ser586=) c.1677T>G (p.Ser559=) n.2061T>G | |
X | g.18604734T>A | CA412362890 | CDKL5 | c.1810T>A (p.Ser604Thr) c.1759T>A (p.Ser587Thr) c.1678T>A (p.Ser560Thr) n.2062T>A | |
X | g.18604734T>C | CA412362893 | CDKL5 | c.1810T>C (p.Ser604Pro) c.1759T>C (p.Ser587Pro) c.1678T>C (p.Ser560Pro) n.2062T>C | COSMIC |
X | g.18604734T>G | CA412362896 | CDKL5 | c.1810T>G (p.Ser604Ala) c.1759T>G (p.Ser587Ala) c.1678T>G (p.Ser560Ala) n.2062T>G | |
X | g.18604735C>A | CA412362899 | CDKL5 | c.1811C>A (p.Ser604Tyr) c.1760C>A (p.Ser587Tyr) c.1679C>A (p.Ser560Tyr) n.2063C>A | |
X | g.18604735C>G | CA412362902 | CDKL5 | c.1811C>G (p.Ser604Cys) c.1760C>G (p.Ser587Cys) c.1679C>G (p.Ser560Cys) n.2063C>G | |
X | g.18604735C>T | CA412362905 | CDKL5 | c.1811C>T (p.Ser604Phe) c.1760C>T (p.Ser587Phe) c.1679C>T (p.Ser560Phe) n.2063C>T | |
X | g.18604736C>A | CA515628021 | CDKL5 | c.1812C>A (p.Ser604=) c.1761C>A (p.Ser587=) c.1680C>A (p.Ser560=) n.2064C>A | |
X | g.18604736C>G | CA515628023 | CDKL5 | c.1812C>G (p.Ser604=) c.1761C>G (p.Ser587=) c.1680C>G (p.Ser560=) n.2064C>G | |
X | g.18604736C>T | CA515628022 | CDKL5 | c.1812C>T (p.Ser604=) c.1761C>T (p.Ser587=) c.1680C>T (p.Ser560=) n.2064C>T |