Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604621A>CCA412362304CDKL5c.1697A>C (p.Lys566Thr)
c.1646A>C (p.Lys549Thr)
c.1565A>C (p.Lys522Thr)
n.1949A>C
Xg.18604621A>GCA412362306CDKL5c.1697A>G (p.Lys566Arg)
c.1646A>G (p.Lys549Arg)
c.1565A>G (p.Lys522Arg)
n.1949A>G
Xg.18604621A>TCA412362308CDKL5c.1697A>T (p.Lys566Met)
c.1646A>T (p.Lys549Met)
c.1565A>T (p.Lys522Met)
n.1949A>T
Xg.18604622G>ACA515627912CDKL5c.1698G>A (p.Lys566=)
c.1647G>A (p.Lys549=)
c.1566G>A (p.Lys522=)
n.1950G>A
Xg.18604622G>CCA412362310CDKL5c.1698G>C (p.Lys566Asn)
c.1647G>C (p.Lys549Asn)
c.1566G>C (p.Lys522Asn)
n.1950G>C
Xg.18604622G>TCA412362312CDKL5c.1698G>T (p.Lys566Asn)
c.1647G>T (p.Lys549Asn)
c.1566G>T (p.Lys522Asn)
n.1950G>T
Xg.18604623A>CCA412362317CDKL5c.1699A>C (p.Thr567Pro)
c.1648A>C (p.Thr550Pro)
c.1567A>C (p.Thr523Pro)
n.1951A>C
Xg.18604623A>GCA412362316CDKL5c.1699A>G (p.Thr567Ala)
c.1648A>G (p.Thr550Ala)
c.1567A>G (p.Thr523Ala)
n.1951A>G
Xg.18604623A>TCA412362314CDKL5c.1699A>T (p.Thr567Ser)
c.1648A>T (p.Thr550Ser)
c.1567A>T (p.Thr523Ser)
n.1951A>T
Xg.18604624C>ACA412362320CDKL5c.1700C>A (p.Thr567Lys)
c.1649C>A (p.Thr550Lys)
c.1568C>A (p.Thr523Lys)
n.1952C>A
 gnomAD v4
Xg.18604624C=CA2417974467CDKL5c.1700C= (p.Thr567=)
c.1649C= (p.Thr550=)
c.1568C= (p.Thr523=)
n.1952C=
Xg.18604624C>GCA412362322CDKL5c.1700C>G (p.Thr567Arg)
c.1649C>G (p.Thr550Arg)
c.1568C>G (p.Thr523Arg)
n.1952C>G
Xg.18604624C>TCA412362323CDKL5c.1700C>T (p.Thr567Met)
c.1649C>T (p.Thr550Met)
c.1568C>T (p.Thr523Met)
n.1952C>T
 ClinVar dbSNP gnomAD v4
Xg.18604625G>ACA10360407CDKL5c.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
Xg.18604625G>CCA515627913CDKL5c.1701G>C (p.Thr567=)
c.1650G>C (p.Thr550=)
c.1569G>C (p.Thr523=)
n.1953G>C
Xg.18604625G=CA2417974468CDKL5c.1701G= (p.Thr567=)
c.1650G= (p.Thr550=)
c.1569G= (p.Thr523=)
n.1953G=
Xg.18604625G>TCA515627914CDKL5c.1701G>T (p.Thr567=)
c.1650G>T (p.Thr550=)
c.1569G>T (p.Thr523=)
n.1953G>T
 ClinVar dbSNP
Xg.18604626A>CCA412362327CDKL5c.1702A>C (p.Met568Leu)
c.1651A>C (p.Met551Leu)
c.1570A>C (p.Met524Leu)
n.1954A>C
Xg.18604626A>GCA412362328CDKL5c.1702A>G (p.Met568Val)
c.1651A>G (p.Met551Val)
c.1570A>G (p.Met524Val)
n.1954A>G
Xg.18604626A>TCA412362330CDKL5c.1702A>T (p.Met568Leu)
c.1651A>T (p.Met551Leu)
c.1570A>T (p.Met524Leu)
n.1954A>T
Xg.18604627T>ACA412362332CDKL5c.1703T>A (p.Met568Lys)
c.1652T>A (p.Met551Lys)
c.1571T>A (p.Met524Lys)
n.1955T>A
Xg.18604627T>CCA412362334CDKL5c.1703T>C (p.Met568Thr)
c.1652T>C (p.Met551Thr)
c.1571T>C (p.Met524Thr)
n.1955T>C
 gnomAD v4
Xg.18604627T>GCA412362336CDKL5c.1703T>G (p.Met568Arg)
c.1652T>G (p.Met551Arg)
c.1571T>G (p.Met524Arg)
n.1955T>G
Xg.18604628G>ACA412362338CDKL5c.1704G>A (p.Met568Ile)
c.1653G>A (p.Met551Ile)
c.1572G>A (p.Met524Ile)
n.1956G>A
 dbSNP
Xg.18604628G>CCA412362340CDKL5c.1704G>C (p.Met568Ile)
c.1653G>C (p.Met551Ile)
c.1572G>C (p.Met524Ile)
n.1956G>C
Xg.18604628G=CA2417974469CDKL5c.1704G= (p.Met568=)
c.1653G= (p.Met551=)
c.1572G= (p.Met524=)
n.1956G=
Xg.18604628G>TCA412362342CDKL5c.1704G>T (p.Met568Ile)
c.1653G>T (p.Met551Ile)
c.1572G>T (p.Met524Ile)
n.1956G>T
Xg.18604629G>ACA412362348CDKL5c.1705G>A (p.Glu569Lys)
c.1654G>A (p.Glu552Lys)
c.1573G>A (p.Glu525Lys)
n.1957G>A
Xg.18604629G>CCA412362347CDKL5c.1705G>C (p.Glu569Gln)
c.1654G>C (p.Glu552Gln)
c.1573G>C (p.Glu525Gln)
n.1957G>C
Xg.18604629G>TCA412362344CDKL5c.1705G>T (p.Glu569Ter)
c.1654G>T (p.Glu552Ter)
c.1573G>T (p.Glu525Ter)
n.1957G>T
Xg.18604630A>CCA412362350CDKL5c.1706A>C (p.Glu569Ala)
c.1655A>C (p.Glu552Ala)
c.1574A>C (p.Glu525Ala)
n.1958A>C
Xg.18604630A>GCA412362351CDKL5c.1706A>G (p.Glu569Gly)
c.1655A>G (p.Glu552Gly)
c.1574A>G (p.Glu525Gly)
n.1958A>G
Xg.18604630A>TCA412362352CDKL5c.1706A>T (p.Glu569Val)
c.1655A>T (p.Glu552Val)
c.1574A>T (p.Glu525Val)
n.1958A>T
Xg.18604631G>ACA515627915CDKL5c.1707G>A (p.Glu569=)
c.1656G>A (p.Glu552=)
c.1575G>A (p.Glu525=)
n.1959G>A
Xg.18604631G>CCA412362354CDKL5c.1707G>C (p.Glu569Asp)
c.1656G>C (p.Glu552Asp)
c.1575G>C (p.Glu525Asp)
n.1959G>C
Xg.18604631G>TCA412362355CDKL5c.1707G>T (p.Glu569Asp)
c.1656G>T (p.Glu552Asp)
c.1575G>T (p.Glu525Asp)
n.1959G>T
Xg.18604632G>ACA412362357CDKL5c.1708G>A (p.Glu570Lys)
c.1657G>A (p.Glu553Lys)
c.1576G>A (p.Glu526Lys)
n.1960G>A
Xg.18604632G>CCA412362359CDKL5c.1708G>C (p.Glu570Gln)
c.1657G>C (p.Glu553Gln)
c.1576G>C (p.Glu526Gln)
n.1960G>C
Xg.18604632G=CA2417974470CDKL5c.1708G= (p.Glu570=)
c.1657G= (p.Glu553=)
c.1576G= (p.Glu526=)
n.1960G=
Xg.18604632G>TCA170452CDKL5c.1708G>T (p.Glu570Ter)
c.1657G>T (p.Glu553Ter)
c.1576G>T (p.Glu526Ter)
n.1960G>T
 ClinVar dbSNP
Xg.18604633A>CCA412362363CDKL5c.1709A>C (p.Glu570Ala)
c.1658A>C (p.Glu553Ala)
c.1577A>C (p.Glu526Ala)
n.1961A>C
Xg.18604633A>GCA412362364CDKL5c.1709A>G (p.Glu570Gly)
c.1658A>G (p.Glu553Gly)
c.1577A>G (p.Glu526Gly)
n.1961A>G
Xg.18604633A>TCA412362365CDKL5c.1709A>T (p.Glu570Val)
c.1658A>T (p.Glu553Val)
c.1577A>T (p.Glu526Val)
n.1961A>T
Xg.18604634A>CCA412362367CDKL5c.1710A>C (p.Glu570Asp)
c.1659A>C (p.Glu553Asp)
c.1578A>C (p.Glu526Asp)
n.1962A>C
Xg.18604634A>GCA515627916CDKL5c.1710A>G (p.Glu570=)
c.1659A>G (p.Glu553=)
c.1578A>G (p.Glu526=)
n.1962A>G
Xg.18604634A>TCA412362369CDKL5c.1710A>T (p.Glu570Asp)
c.1659A>T (p.Glu553Asp)
c.1578A>T (p.Glu526Asp)
n.1962A>T
Xg.18604635T>ACA412362375CDKL5c.1711T>A (p.Leu571Met)
c.1660T>A (p.Leu554Met)
c.1579T>A (p.Leu527Met)
n.1963T>A
Xg.18604635T>CCA10360408CDKL5c.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
Xg.18604635T>GCA412362373CDKL5c.1711T>G (p.Leu571Val)
c.1660T>G (p.Leu554Val)
c.1579T>G (p.Leu527Val)
n.1963T>G
Xg.18604635T=CA2417974471CDKL5c.1711T= (p.Leu571=)
c.1660T= (p.Leu554=)
c.1579T= (p.Leu527=)
n.1963T=
Xg.18604636T>ACA412362378CDKL5c.1712T>A (p.Leu571Ter)
c.1661T>A (p.Leu554Ter)
c.1580T>A (p.Leu527Ter)
n.1964T>A
Xg.18604636T>CCA412362382CDKL5c.1712T>C (p.Leu571Ser)
c.1661T>C (p.Leu554Ser)
c.1580T>C (p.Leu527Ser)
n.1964T>C
Xg.18604636T>GCA412362379CDKL5c.1712T>G (p.Leu571Trp)
c.1661T>G (p.Leu554Trp)
c.1580T>G (p.Leu527Trp)
n.1964T>G
Xg.18604637G>ACA10360409CDKL5c.1713G>A (p.Leu571=)
c.1662G>A (p.Leu554=)
c.1581G>A (p.Leu527=)
n.1965G>A
 ClinVar dbSNP ExAC gnomAD v2
Xg.18604637G>CCA412362385CDKL5c.1713G>C (p.Leu571Phe)
c.1662G>C (p.Leu554Phe)
c.1581G>C (p.Leu527Phe)
n.1965G>C
Xg.18604637G=CA2417974472CDKL5c.1713G= (p.Leu571=)
c.1662G= (p.Leu554=)
c.1581G= (p.Leu527=)
n.1965G=
Xg.18604637G>TCA412362387CDKL5c.1713G>T (p.Leu571Phe)
c.1662G>T (p.Leu554Phe)
c.1581G>T (p.Leu527Phe)
n.1965G>T
Xg.18604638A>CCA412362389CDKL5c.1714A>C (p.Lys572Gln)
c.1663A>C (p.Lys555Gln)
c.1582A>C (p.Lys528Gln)
n.1966A>C
Xg.18604638A>GCA412362390CDKL5c.1714A>G (p.Lys572Glu)
c.1663A>G (p.Lys555Glu)
c.1582A>G (p.Lys528Glu)
n.1966A>G
Xg.18604638A>TCA412362393CDKL5c.1714A>T (p.Lys572Ter)
c.1663A>T (p.Lys555Ter)
c.1582A>T (p.Lys528Ter)
n.1966A>T
Xg.18604639A>CCA412362395CDKL5c.1715A>C (p.Lys572Thr)
c.1664A>C (p.Lys555Thr)
c.1583A>C (p.Lys528Thr)
n.1967A>C
Xg.18604639A>GCA412362396CDKL5c.1715A>G (p.Lys572Arg)
c.1664A>G (p.Lys555Arg)
c.1583A>G (p.Lys528Arg)
n.1967A>G
Xg.18604639A>TCA412362398CDKL5c.1715A>T (p.Lys572Met)
c.1664A>T (p.Lys555Met)
c.1583A>T (p.Lys528Met)
n.1967A>T
Xg.18604640G>ACA515627917CDKL5c.1716G>A (p.Lys572=)
c.1665G>A (p.Lys555=)
c.1584G>A (p.Lys528=)
n.1968G>A
Xg.18604640G>CCA412362400CDKL5c.1716G>C (p.Lys572Asn)
c.1665G>C (p.Lys555Asn)
c.1584G>C (p.Lys528Asn)
n.1968G>C
Xg.18604640G>TCA412362402CDKL5c.1716G>T (p.Lys572Asn)
c.1665G>T (p.Lys555Asn)
c.1584G>T (p.Lys528Asn)
n.1968G>T
 gnomAD v4
Xg.18604641C>ACA412362403CDKL5c.1717C>A (p.Leu573Met)
c.1666C>A (p.Leu556Met)
c.1585C>A (p.Leu529Met)
n.1969C>A
Xg.18604641C>GCA412362405CDKL5c.1717C>G (p.Leu573Val)
c.1666C>G (p.Leu556Val)
c.1585C>G (p.Leu529Val)
n.1969C>G
Xg.18604641C>TCA515627918CDKL5c.1717C>T (p.Leu573=)
c.1666C>T (p.Leu556=)
c.1585C>T (p.Leu529=)
n.1969C>T
Xg.18604642T>ACA412362407CDKL5c.1718T>A (p.Leu573Gln)
c.1667T>A (p.Leu556Gln)
c.1586T>A (p.Leu529Gln)
n.1970T>A
Xg.18604642T>CCA412362411CDKL5c.1718T>C (p.Leu573Pro)
c.1667T>C (p.Leu556Pro)
c.1586T>C (p.Leu529Pro)
n.1970T>C
Xg.18604642T>GCA412362408CDKL5c.1718T>G (p.Leu573Arg)
c.1667T>G (p.Leu556Arg)
c.1586T>G (p.Leu529Arg)
n.1970T>G
Xg.18604643G>ACA515627919CDKL5c.1719G>A (p.Leu573=)
c.1668G>A (p.Leu556=)
c.1587G>A (p.Leu529=)
n.1971G>A
Xg.18604643G>CCA515627920CDKL5c.1719G>C (p.Leu573=)
c.1668G>C (p.Leu556=)
c.1587G>C (p.Leu529=)
n.1971G>C
Xg.18604643G>TCA515627921CDKL5c.1719G>T (p.Leu573=)
c.1668G>T (p.Leu556=)
c.1587G>T (p.Leu529=)
n.1971G>T
 dbSNP
Xg.18604645_18604650delCA2693222735CDKL5c.1721_1726del (p.Pro574_Glu575del)
c.1670_1675del (p.Pro557_Glu558del)
c.1589_1594del (p.Pro530_Glu531del)
n.1973_1978del
 gnomAD v4
Xg.18604644C>ACA412362413CDKL5c.1720C>A (p.Pro574Thr)
c.1669C>A (p.Pro557Thr)
c.1588C>A (p.Pro530Thr)
n.1972C>A
Xg.18604644C>GCA412362416CDKL5c.1720C>G (p.Pro574Ala)
c.1669C>G (p.Pro557Ala)
c.1588C>G (p.Pro530Ala)
n.1972C>G
Xg.18604644C>TCA412362418CDKL5c.1720C>T (p.Pro574Ser)
c.1669C>T (p.Pro557Ser)
c.1588C>T (p.Pro530Ser)
n.1972C>T
Xg.18604645C>ACA326987875CDKL5c.1721C>A (p.Pro574Gln)
c.1670C>A (p.Pro557Gln)
c.1589C>A (p.Pro530Gln)
n.1973C>A
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.18604645C=CA2417974473CDKL5c.1721C= (p.Pro574=)
c.1670C= (p.Pro557=)
c.1589C= (p.Pro530=)
n.1973C=
Xg.18604645C>GCA412362419CDKL5c.1721C>G (p.Pro574Arg)
c.1670C>G (p.Pro557Arg)
c.1589C>G (p.Pro530Arg)
n.1973C>G
Xg.18604645C>TCA294755CDKL5c.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
Xg.18604646G>ACA209032CDKL5c.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
Xg.18604646G>CCA515627922CDKL5c.1722G>C (p.Pro574=)
c.1671G>C (p.Pro557=)
c.1590G>C (p.Pro530=)
n.1974G>C
Xg.18604646G=CA2417974474CDKL5c.1722G= (p.Pro574=)
c.1671G= (p.Pro557=)
c.1590G= (p.Pro530=)
n.1974G=
Xg.18604646G>TCA515627923CDKL5c.1722G>T (p.Pro574=)
c.1671G>T (p.Pro557=)
c.1590G>T (p.Pro530=)
n.1974G>T
 COSMIC
Xg.18604647G>ACA412362424CDKL5c.1723G>A (p.Glu575Lys)
c.1672G>A (p.Glu558Lys)
c.1591G>A (p.Glu531Lys)
n.1975G>A
Xg.18604647G>CCA412362426CDKL5c.1723G>C (p.Glu575Gln)
c.1672G>C (p.Glu558Gln)
c.1591G>C (p.Glu531Gln)
n.1975G>C
Xg.18604647G>TCA412362428CDKL5c.1723G>T (p.Glu575Ter)
c.1672G>T (p.Glu558Ter)
c.1591G>T (p.Glu531Ter)
n.1975G>T
Xg.18604648A>CCA412362434CDKL5c.1724A>C (p.Glu575Ala)
c.1673A>C (p.Glu558Ala)
c.1592A>C (p.Glu531Ala)
n.1976A>C
Xg.18604648A>GCA412362432CDKL5c.1724A>G (p.Glu575Gly)
c.1673A>G (p.Glu558Gly)
c.1592A>G (p.Glu531Gly)
n.1976A>G
 gnomAD v4
Xg.18604648A>TCA412362430CDKL5c.1724A>T (p.Glu575Val)
c.1673A>T (p.Glu558Val)
c.1592A>T (p.Glu531Val)
n.1976A>T
Xg.18604649G>ACA10360410CDKL5c.1725G>A (p.Glu575=)
c.1674G>A (p.Glu558=)
c.1593G>A (p.Glu531=)
n.1977G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604649G>CCA412362437CDKL5c.1725G>C (p.Glu575Asp)
c.1674G>C (p.Glu558Asp)
c.1593G>C (p.Glu531Asp)
n.1977G>C
Xg.18604649G=CA2417974475CDKL5c.1725G= (p.Glu575=)
c.1674G= (p.Glu558=)
c.1593G= (p.Glu531=)
n.1977G=
Xg.18604649G>TCA412362439CDKL5c.1725G>T (p.Glu575Asp)
c.1674G>T (p.Glu558Asp)
c.1593G>T (p.Glu531Asp)
n.1977G>T
Xg.18604650C>ACA412362441CDKL5c.1726C>A (p.His576Asn)
c.1675C>A (p.His559Asn)
c.1594C>A (p.His532Asn)
n.1978C>A
Xg.18604650C>GCA412362443CDKL5c.1726C>G (p.His576Asp)
c.1675C>G (p.His559Asp)
c.1594C>G (p.His532Asp)
n.1978C>G
Xg.18604650C>TCA412362444CDKL5c.1726C>T (p.His576Tyr)
c.1675C>T (p.His559Tyr)
c.1594C>T (p.His532Tyr)
n.1978C>T
 gnomAD v4
Xg.18604651A=CA2417974476CDKL5c.1727A= (p.His576=)
c.1676A= (p.His559=)
c.1595A= (p.His532=)
n.1979A=
Xg.18604651A>CCA412362450CDKL5c.1727A>C (p.His576Pro)
c.1676A>C (p.His559Pro)
c.1595A>C (p.His532Pro)
n.1979A>C
 dbSNP gnomAD v2 gnomAD v4
Xg.18604651A>GCA412362447CDKL5c.1727A>G (p.His576Arg)
c.1676A>G (p.His559Arg)
c.1595A>G (p.His532Arg)
n.1979A>G
Xg.18604651A>TCA412362448CDKL5c.1727A>T (p.His576Leu)
c.1676A>T (p.His559Leu)
c.1595A>T (p.His532Leu)
n.1979A>T
Xg.18604652C>ACA412362452CDKL5c.1728C>A (p.His576Gln)
c.1677C>A (p.His559Gln)
c.1596C>A (p.His532Gln)
n.1980C>A
Xg.18604652C>GCA412362454CDKL5c.1728C>G (p.His576Gln)
c.1677C>G (p.His559Gln)
c.1596C>G (p.His532Gln)
n.1980C>G
Xg.18604652C>TCA515627924CDKL5c.1728C>T (p.His576=)
c.1677C>T (p.His559=)
c.1596C>T (p.His532=)
n.1980C>T
Xg.18604653A=CA2417974477CDKL5c.1729A= (p.Met577=)
c.1678A= (p.Met560=)
c.1597A= (p.Met533=)
n.1981A=
Xg.18604653A>CCA412362457CDKL5c.1729A>C (p.Met577Leu)
c.1678A>C (p.Met560Leu)
c.1597A>C (p.Met533Leu)
n.1981A>C
 dbSNP
Xg.18604653A>GCA412362458CDKL5c.1729A>G (p.Met577Val)
c.1678A>G (p.Met560Val)
c.1597A>G (p.Met533Val)
n.1981A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18604653A>TCA412362460CDKL5c.1729A>T (p.Met577Leu)
c.1678A>T (p.Met560Leu)
c.1597A>T (p.Met533Leu)
n.1981A>T
Xg.18604654T>ACA412362463CDKL5c.1730T>A (p.Met577Lys)
c.1679T>A (p.Met560Lys)
c.1598T>A (p.Met533Lys)
n.1982T>A
Xg.18604654T>CCA10360411CDKL5c.1730T>C (p.Met577Thr)
c.1679T>C (p.Met560Thr)
c.1598T>C (p.Met533Thr)
n.1982T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604654T>GCA412362465CDKL5c.1730T>G (p.Met577Arg)
c.1679T>G (p.Met560Arg)
c.1598T>G (p.Met533Arg)
n.1982T>G
Xg.18604654T=CA2417974478CDKL5c.1730T= (p.Met577=)
c.1679T= (p.Met560=)
c.1598T= (p.Met533=)
n.1982T=
Xg.18604654_18604655dupCA2695231315CDKL5c.1730_1731dup (p.Asp578TrpfsTer?)
c.1679_1680dup (p.Asp561TrpfsTer?)
c.1598_1599dup (p.Asp534TrpfsTer?)
n.1982_1983dup
Xg.18604655G>ACA412362468CDKL5c.1731G>A (p.Met577Ile)
c.1680G>A (p.Met560Ile)
c.1599G>A (p.Met533Ile)
n.1983G>A
 ClinVar dbSNP
Xg.18604655G>CCA412362469CDKL5c.1731G>C (p.Met577Ile)
c.1680G>C (p.Met560Ile)
c.1599G>C (p.Met533Ile)
n.1983G>C
Xg.18604655G=CA2417974479CDKL5c.1731G= (p.Met577=)
c.1680G= (p.Met560=)
c.1599G= (p.Met533=)
n.1983G=
Xg.18604655G>TCA10360412CDKL5c.1731G>T (p.Met577Ile)
c.1680G>T (p.Met560Ile)
c.1599G>T (p.Met533Ile)
n.1983G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604655_18604656delCA2695231317CDKL5c.1731_1732del (p.Met577IlefsTer3)
c.1680_1681del (p.Met560IlefsTer3)
c.1599_1600del (p.Met533IlefsTer3)
n.1983_1984del
Xg.18604656G>ACA412362471CDKL5c.1732G>A (p.Asp578Asn)
c.1681G>A (p.Asp561Asn)
c.1600G>A (p.Asp534Asn)
n.1984G>A
Xg.18604656G>CCA412362473CDKL5c.1732G>C (p.Asp578His)
c.1681G>C (p.Asp561His)
c.1600G>C (p.Asp534His)
n.1984G>C
Xg.18604656G>TCA412362475CDKL5c.1732G>T (p.Asp578Tyr)
c.1681G>T (p.Asp561Tyr)
c.1600G>T (p.Asp534Tyr)
n.1984G>T
Xg.18604657A=CA2417974480CDKL5c.1733A= (p.Asp578=)
c.1682A= (p.Asp561=)
c.1601A= (p.Asp534=)
n.1985A=
Xg.18604657A>CCA412362477CDKL5c.1733A>C (p.Asp578Ala)
c.1682A>C (p.Asp561Ala)
c.1601A>C (p.Asp534Ala)
n.1985A>C
Xg.18604657A>GCA412362479CDKL5c.1733A>G (p.Asp578Gly)
c.1682A>G (p.Asp561Gly)
c.1601A>G (p.Asp534Gly)
n.1985A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.18604657A>TCA412362480CDKL5c.1733A>T (p.Asp578Val)
c.1682A>T (p.Asp561Val)
c.1601A>T (p.Asp534Val)
n.1985A>T
Xg.18604658_18604662dupCA2695231318CDKL5c.1734_1738dup (p.Ser580ThrfsTer?)
c.1683_1687dup (p.Ser563ThrfsTer?)
c.1602_1606dup (p.Ser536ThrfsTer?)
n.1986_1990dup
Xg.18604658C>ACA412362483CDKL5c.1734C>A (p.Asp578Glu)
c.1683C>A (p.Asp561Glu)
c.1602C>A (p.Asp534Glu)
n.1986C>A
Xg.18604658C>GCA412362485CDKL5c.1734C>G (p.Asp578Glu)
c.1683C>G (p.Asp561Glu)
c.1602C>G (p.Asp534Glu)
n.1986C>G
Xg.18604658C>TCA515627925CDKL5c.1734C>T (p.Asp578=)
c.1683C>T (p.Asp561=)
c.1602C>T (p.Asp534=)
n.1986C>T
Xg.18604659A>CCA412362489CDKL5c.1735A>C (p.Ser579Arg)
c.1684A>C (p.Ser562Arg)
c.1603A>C (p.Ser535Arg)
n.1987A>C
Xg.18604659A>GCA412362491CDKL5c.1735A>G (p.Ser579Gly)
c.1684A>G (p.Ser562Gly)
c.1603A>G (p.Ser535Gly)
n.1987A>G
Xg.18604659A>TCA412362487CDKL5c.1735A>T (p.Ser579Cys)
c.1684A>T (p.Ser562Cys)
c.1603A>T (p.Ser535Cys)
n.1987A>T
Xg.18604660G>ACA412362493CDKL5c.1736G>A (p.Ser579Asn)
c.1685G>A (p.Ser562Asn)
c.1604G>A (p.Ser535Asn)
n.1988G>A
 dbSNP
Xg.18604660G>CCA412362497CDKL5c.1736G>C (p.Ser579Thr)
c.1685G>C (p.Ser562Thr)
c.1604G>C (p.Ser535Thr)
n.1988G>C
Xg.18604660G=CA2417974481CDKL5c.1736G= (p.Ser579=)
c.1685G= (p.Ser562=)
c.1604G= (p.Ser535=)
n.1988G=
Xg.18604660G>TCA412362495CDKL5c.1736G>T (p.Ser579Ile)
c.1685G>T (p.Ser562Ile)
c.1604G>T (p.Ser535Ile)
n.1988G>T
Xg.18604661T>ACA412362499CDKL5c.1737T>A (p.Ser579Arg)
c.1686T>A (p.Ser562Arg)
c.1605T>A (p.Ser535Arg)
n.1989T>A
Xg.18604661T>CCA515627926CDKL5c.1737T>C (p.Ser579=)
c.1686T>C (p.Ser562=)
c.1605T>C (p.Ser535=)
n.1989T>C
Xg.18604661T>GCA412362501CDKL5c.1737T>G (p.Ser579Arg)
c.1686T>G (p.Ser562Arg)
c.1605T>G (p.Ser535Arg)
n.1989T>G
Xg.18604662A>CCA412362503CDKL5c.1738A>C (p.Ser580Arg)
c.1687A>C (p.Ser563Arg)
c.1606A>C (p.Ser536Arg)
n.1990A>C
Xg.18604662A>GCA412362507CDKL5c.1738A>G (p.Ser580Gly)
c.1687A>G (p.Ser563Gly)
c.1606A>G (p.Ser536Gly)
n.1990A>G
 COSMIC
Xg.18604662A>TCA412362505CDKL5c.1738A>T (p.Ser580Cys)
c.1687A>T (p.Ser563Cys)
c.1606A>T (p.Ser536Cys)
n.1990A>T
Xg.18604663G>ACA412362509CDKL5c.1739G>A (p.Ser580Asn)
c.1688G>A (p.Ser563Asn)
c.1607G>A (p.Ser536Asn)
n.1991G>A
Xg.18604663G>CCA412362513CDKL5c.1739G>C (p.Ser580Thr)
c.1688G>C (p.Ser563Thr)
c.1607G>C (p.Ser536Thr)
n.1991G>C
Xg.18604663G>TCA412362511CDKL5c.1739G>T (p.Ser580Ile)
c.1688G>T (p.Ser563Ile)
c.1607G>T (p.Ser536Ile)
n.1991G>T
Xg.18604664C>ACA412362515CDKL5c.1740C>A (p.Ser580Arg)
c.1689C>A (p.Ser563Arg)
c.1608C>A (p.Ser536Arg)
n.1992C>A
Xg.18604664C>GCA412362517CDKL5c.1740C>G (p.Ser580Arg)
c.1689C>G (p.Ser563Arg)
c.1608C>G (p.Ser536Arg)
n.1992C>G
Xg.18604664C>TCA515627927CDKL5c.1740C>T (p.Ser580=)
c.1689C>T (p.Ser563=)
c.1608C>T (p.Ser536=)
n.1992C>T
Xg.18604665delCA2740092031CDKL5c.1741del (p.His581IlefsTer?)
c.1690del (p.His564IlefsTer?)
c.1609del (p.His537IlefsTer?)
n.1993del
 ClinVar
Xg.18604665C>ACA412362519CDKL5c.1741C>A (p.His581Asn)
c.1690C>A (p.His564Asn)
c.1609C>A (p.His537Asn)
n.1993C>A
Xg.18604665C=CA2417974482CDKL5c.1741C= (p.His581=)
c.1690C= (p.His564=)
c.1609C= (p.His537=)
n.1993C=
Xg.18604665C>GCA412362523CDKL5c.1741C>G (p.His581Asp)
c.1690C>G (p.His564Asp)
c.1609C>G (p.His537Asp)
n.1993C>G
Xg.18604665C>TCA412362522CDKL5c.1741C>T (p.His581Tyr)
c.1690C>T (p.His564Tyr)
c.1609C>T (p.His537Tyr)
n.1993C>T
Xg.18604666A>CCA412362525CDKL5c.1742A>C (p.His581Pro)
c.1691A>C (p.His564Pro)
c.1610A>C (p.His537Pro)
n.1994A>C
Xg.18604666A>GCA412362528CDKL5c.1742A>G (p.His581Arg)
c.1691A>G (p.His564Arg)
c.1610A>G (p.His537Arg)
n.1994A>G
 gnomAD v4
Xg.18604666A>TCA412362527CDKL5c.1742A>T (p.His581Leu)
c.1691A>T (p.His564Leu)
c.1610A>T (p.His537Leu)
n.1994A>T
Xg.18604666dupCA915950768CDKL5c.1742dup (p.His581GlnfsTer30)
c.1691dup (p.His564GlnfsTer30)
c.1610dup (p.His537GlnfsTer30)
n.1994dup
 ClinVar dbSNP
Xg.18604667T>ACA412362530CDKL5c.1743T>A (p.His581Gln)
c.1692T>A (p.His564Gln)
c.1611T>A (p.His537Gln)
n.1995T>A
Xg.18604667T>CCA515627928CDKL5c.1743T>C (p.His581=)
c.1692T>C (p.His564=)
c.1611T>C (p.His537=)
n.1995T>C
 ClinVar dbSNP gnomAD v4
Xg.18604667T>GCA412362532CDKL5c.1743T>G (p.His581Gln)
c.1692T>G (p.His564Gln)
c.1611T>G (p.His537Gln)
n.1995T>G
Xg.18604667T=CA2417974483CDKL5c.1743T= (p.His581=)
c.1692T= (p.His564=)
c.1611T= (p.His537=)
n.1995T=
Xg.18604668dupCA2580100473CDKL5c.1744dup (p.Ser582PhefsTer29)
c.1693dup (p.Ser565PhefsTer29)
c.1612dup (p.Ser538PhefsTer29)
n.1996dup
 ClinVar
Xg.18604668delCA2825002898CDKL5c.1744del (p.Ser582ProfsTer?)
c.1693del (p.Ser565ProfsTer?)
c.1612del (p.Ser538ProfsTer?)
n.1996del
 ClinVar
Xg.18604668T>ACA412362534CDKL5c.1744T>A (p.Ser582Thr)
c.1693T>A (p.Ser565Thr)
c.1612T>A (p.Ser538Thr)
n.1996T>A
 gnomAD v4
Xg.18604668T>CCA412362536CDKL5c.1744T>C (p.Ser582Pro)
c.1693T>C (p.Ser565Pro)
c.1612T>C (p.Ser538Pro)
n.1996T>C
Xg.18604668T>GCA412362538CDKL5c.1744T>G (p.Ser582Ala)
c.1693T>G (p.Ser565Ala)
c.1612T>G (p.Ser538Ala)
n.1996T>G
 gnomAD v4
Xg.18604669C>ACA412362540CDKL5c.1745C>A (p.Ser582Tyr)
c.1694C>A (p.Ser565Tyr)
c.1613C>A (p.Ser538Tyr)
n.1997C>A
Xg.18604669C=CA2417974484CDKL5c.1745C= (p.Ser582=)
c.1694C= (p.Ser565=)
c.1613C= (p.Ser538=)
n.1997C=
Xg.18604669C>GCA412362542CDKL5c.1745C>G (p.Ser582Cys)
c.1694C>G (p.Ser565Cys)
c.1613C>G (p.Ser538Cys)
n.1997C>G
Xg.18604669C>TCA412362544CDKL5c.1745C>T (p.Ser582Phe)
c.1694C>T (p.Ser565Phe)
c.1613C>T (p.Ser538Phe)
n.1997C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.18604670C>ACA515627929CDKL5c.1746C>A (p.Ser582=)
c.1695C>A (p.Ser565=)
c.1614C>A (p.Ser538=)
n.1998C>A
Xg.18604670C>GCA515627930CDKL5c.1746C>G (p.Ser582=)
c.1695C>G (p.Ser565=)
c.1614C>G (p.Ser538=)
n.1998C>G
Xg.18604670C>TCA515627931CDKL5c.1746C>T (p.Ser582=)
c.1695C>T (p.Ser565=)
c.1614C>T (p.Ser538=)
n.1998C>T
Xg.18604671C>ACA412362546CDKL5c.1747C>A (p.His583Asn)
c.1696C>A (p.His566Asn)
c.1615C>A (p.His539Asn)
n.1999C>A
Xg.18604671C=CA2417974485CDKL5c.1747C= (p.His583=)
c.1696C= (p.His566=)
c.1615C= (p.His539=)
n.1999C=
Xg.18604671C>GCA412362548CDKL5c.1747C>G (p.His583Asp)
c.1696C>G (p.His566Asp)
c.1615C>G (p.His539Asp)
n.1999C>G
Xg.18604671C>TCA412362550CDKL5c.1747C>T (p.His583Tyr)
c.1696C>T (p.His566Tyr)
c.1615C>T (p.His539Tyr)
n.1999C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18604672A>CCA412362556CDKL5c.1748A>C (p.His583Pro)
c.1697A>C (p.His566Pro)
c.1616A>C (p.His539Pro)
n.2000A>C
Xg.18604672A>GCA412362552CDKL5c.1748A>G (p.His583Arg)
c.1697A>G (p.His566Arg)
c.1616A>G (p.His539Arg)
n.2000A>G
Xg.18604672A>TCA412362554CDKL5c.1748A>T (p.His583Leu)
c.1697A>T (p.His566Leu)
c.1616A>T (p.His539Leu)
n.2000A>T
Xg.18604673T>ACA412362558CDKL5c.1749T>A (p.His583Gln)
c.1698T>A (p.His566Gln)
c.1617T>A (p.His539Gln)
n.2001T>A
Xg.18604673T>CCA515627932CDKL5c.1749T>C (p.His583=)
c.1698T>C (p.His566=)
c.1617T>C (p.His539=)
n.2001T>C
Xg.18604673T>GCA412362560CDKL5c.1749T>G (p.His583Gln)
c.1698T>G (p.His566Gln)
c.1617T>G (p.His539Gln)
n.2001T>G
Xg.18604674T>ACA412362562CDKL5c.1750T>A (p.Ser584Thr)
c.1699T>A (p.Ser567Thr)
c.1618T>A (p.Ser540Thr)
n.2002T>A
Xg.18604674T>CCA412362563CDKL5c.1750T>C (p.Ser584Pro)
c.1699T>C (p.Ser567Pro)
c.1618T>C (p.Ser540Pro)
n.2002T>C
Xg.18604674T>GCA412362564CDKL5c.1750T>G (p.Ser584Ala)
c.1699T>G (p.Ser567Ala)
c.1618T>G (p.Ser540Ala)
n.2002T>G
Xg.18604675C>ACA412362566CDKL5c.1751C>A (p.Ser584Ter)
c.1700C>A (p.Ser567Ter)
c.1619C>A (p.Ser540Ter)
n.2003C>A
Xg.18604675C>GCA412362568CDKL5c.1751C>G (p.Ser584Ter)
c.1700C>G (p.Ser567Ter)
c.1619C>G (p.Ser540Ter)
n.2003C>G
Xg.18604675C>TCA412362570CDKL5c.1751C>T (p.Ser584Leu)
c.1700C>T (p.Ser567Leu)
c.1619C>T (p.Ser540Leu)
n.2003C>T
Xg.18604676A=CA2417974486CDKL5c.1752A= (p.Ser584=)
c.1701A= (p.Ser567=)
c.1620A= (p.Ser540=)
n.2004A=
Xg.18604676A>CCA515627933CDKL5c.1752A>C (p.Ser584=)
c.1701A>C (p.Ser567=)
c.1620A>C (p.Ser540=)
n.2004A>C
Xg.18604676A>GCA515627934CDKL5c.1752A>G (p.Ser584=)
c.1701A>G (p.Ser567=)
c.1620A>G (p.Ser540=)
n.2004A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18604676A>TCA515627935CDKL5c.1752A>T (p.Ser584=)
c.1701A>T (p.Ser567=)
c.1620A>T (p.Ser540=)
n.2004A>T
Xg.18604676_18604680delinsACTGTCA2417974487CDKL5c.1752_1756delinsACTGT (p.Ser584=)
c.1701_1705delinsACTGT (p.Ser567=)
c.1620_1624delinsACTGT (p.Ser540=)
n.2004_2008delinsACTGT
Xg.18604677C>ACA412362572CDKL5c.1753C>A (p.Leu585Met)
c.1702C>A (p.Leu568Met)
c.1621C>A (p.Leu541Met)
n.2005C>A
Xg.18604677C>GCA412362574CDKL5c.1753C>G (p.Leu585Val)
c.1702C>G (p.Leu568Val)
c.1621C>G (p.Leu541Val)
n.2005C>G
Xg.18604677C>TCA515627936CDKL5c.1753C>T (p.Leu585=)
c.1702C>T (p.Leu568=)
c.1621C>T (p.Leu541=)
n.2005C>T
Xg.18604677_18604679delinsCTGCA2417974488CDKL5c.1753_1755delinsCTG (p.Leu585=)
c.1702_1704delinsCTG (p.Leu568=)
c.1621_1623delinsCTG (p.Leu541=)
n.2005_2007delinsCTG
Xg.18604680_18604683delCA1139667245CDKL5c.1756_1759del (p.Ser586HisfsTer29)
c.1705_1708del (p.Ser569HisfsTer29)
c.1624_1627del (p.Ser542HisfsTer29)
n.2008_2011del
 ClinVar dbSNP
Xg.18604678T>ACA412362579CDKL5c.1754T>A (p.Leu585Gln)
c.1703T>A (p.Leu568Gln)
c.1622T>A (p.Leu541Gln)
n.2006T>A
Xg.18604678T>CCA412362578CDKL5c.1754T>C (p.Leu585Pro)
c.1703T>C (p.Leu568Pro)
c.1622T>C (p.Leu541Pro)
n.2006T>C
Xg.18604678T>GCA412362576CDKL5c.1754T>G (p.Leu585Arg)
c.1703T>G (p.Leu568Arg)
c.1622T>G (p.Leu541Arg)
n.2006T>G
 gnomAD v4
Xg.18604679_18604680delCA916083843CDKL5c.1755_1756del (p.Ser586CysfsTer24)
c.1704_1705del (p.Ser569CysfsTer24)
c.1623_1624del (p.Ser542CysfsTer24)
n.2007_2008del
 ClinVar dbSNP
Xg.18604679G>ACA10360414CDKL5c.1755G>A (p.Leu585=)
c.1704G>A (p.Leu568=)
c.1623G>A (p.Leu541=)
n.2007G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.18604679G>CCA10360413CDKL5c.1755G>C (p.Leu585=)
c.1704G>C (p.Leu568=)
c.1623G>C (p.Leu541=)
n.2007G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604679G=CA2417974489CDKL5c.1755G= (p.Leu585=)
c.1704G= (p.Leu568=)
c.1623G= (p.Leu541=)
n.2007G=
Xg.18604679G>TCA515627937CDKL5c.1755G>T (p.Leu585=)
c.1704G>T (p.Leu568=)
c.1623G>T (p.Leu541=)
n.2007G>T
Xg.18604680T>ACA412362583CDKL5c.1756T>A (p.Ser586Thr)
c.1705T>A (p.Ser569Thr)
c.1624T>A (p.Ser542Thr)
n.2008T>A
Xg.18604680T>CCA412362585CDKL5c.1756T>C (p.Ser586Pro)
c.1705T>C (p.Ser569Pro)
c.1624T>C (p.Ser542Pro)
n.2008T>C
Xg.18604680T>GCA412362587CDKL5c.1756T>G (p.Ser586Ala)
c.1705T>G (p.Ser569Ala)
c.1624T>G (p.Ser542Ala)
n.2008T>G
Xg.18604681_18604682delCA2695231320CDKL5c.1757_1758del (p.Ser586CysfsTer24)
c.1706_1707del (p.Ser569CysfsTer24)
c.1625_1626del (p.Ser542CysfsTer24)
n.2009_2010del
Xg.18604681C>ACA412362589CDKL5c.1757C>A (p.Ser586Tyr)
c.1706C>A (p.Ser569Tyr)
c.1625C>A (p.Ser542Tyr)
n.2009C>A
Xg.18604681C>GCA412362591CDKL5c.1757C>G (p.Ser586Cys)
c.1706C>G (p.Ser569Cys)
c.1625C>G (p.Ser542Cys)
n.2009C>G
Xg.18604681C>TCA412362593CDKL5c.1757C>T (p.Ser586Phe)
c.1706C>T (p.Ser569Phe)
c.1625C>T (p.Ser542Phe)
n.2009C>T
Xg.18604682T>ACA515627938CDKL5c.1758T>A (p.Ser586=)
c.1707T>A (p.Ser569=)
c.1626T>A (p.Ser542=)
n.2010T>A
Xg.18604682T>CCA515627940CDKL5c.1758T>C (p.Ser586=)
c.1707T>C (p.Ser569=)
c.1626T>C (p.Ser542=)
n.2010T>C
Xg.18604682T>GCA515627939CDKL5c.1758T>G (p.Ser586=)
c.1707T>G (p.Ser569=)
c.1626T>G (p.Ser542=)
n.2010T>G
Xg.18604683G>ACA412362594CDKL5c.1759G>A (p.Ala587Thr)
c.1708G>A (p.Ala570Thr)
c.1627G>A (p.Ala543Thr)
n.2011G>A
Xg.18604683G>CCA412362597CDKL5c.1759G>C (p.Ala587Pro)
c.1708G>C (p.Ala570Pro)
c.1627G>C (p.Ala543Pro)
n.2011G>C
Xg.18604683G>TCA412362599CDKL5c.1759G>T (p.Ala587Ser)
c.1708G>T (p.Ala570Ser)
c.1627G>T (p.Ala543Ser)
n.2011G>T
Xg.18604684C>ACA412362604CDKL5c.1760C>A (p.Ala587Glu)
c.1709C>A (p.Ala570Glu)
c.1628C>A (p.Ala543Glu)
n.2012C>A
Xg.18604684C=CA2417974490CDKL5c.1760C= (p.Ala587=)
c.1709C= (p.Ala570=)
c.1628C= (p.Ala543=)
n.2012C=
Xg.18604684C>GCA412362602CDKL5c.1760C>G (p.Ala587Gly)
c.1709C>G (p.Ala570Gly)
c.1628C>G (p.Ala543Gly)
n.2012C>G
Xg.18604684C>TCA412362601CDKL5c.1760C>T (p.Ala587Val)
c.1709C>T (p.Ala570Val)
c.1628C>T (p.Ala543Val)
n.2012C>T
 dbSNP
Xg.18604685A>CCA515627941CDKL5c.1761A>C (p.Ala587=)
c.1710A>C (p.Ala570=)
c.1629A>C (p.Ala543=)
n.2013A>C
Xg.18604685A>GCA515627942CDKL5c.1761A>G (p.Ala587=)
c.1710A>G (p.Ala570=)
c.1629A>G (p.Ala543=)
n.2013A>G
Xg.18604685A>TCA515627943CDKL5c.1761A>T (p.Ala587=)
c.1710A>T (p.Ala570=)
c.1629A>T (p.Ala543=)
n.2013A>T
Xg.18604686C>ACA412362606CDKL5c.1762C>A (p.Pro588Thr)
c.1711C>A (p.Pro571Thr)
c.1630C>A (p.Pro544Thr)
n.2014C>A
Xg.18604686C=CA2417974491CDKL5c.1762C= (p.Pro588=)
c.1711C= (p.Pro571=)
c.1630C= (p.Pro544=)
n.2014C=
Xg.18604686C>GCA412362608CDKL5c.1762C>G (p.Pro588Ala)
c.1711C>G (p.Pro571Ala)
c.1630C>G (p.Pro544Ala)
n.2014C>G
Xg.18604686C>TCA10360415CDKL5c.1762C>T (p.Pro588Ser)
c.1711C>T (p.Pro571Ser)
c.1630C>T (p.Pro544Ser)
n.2014C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.18604687C>ACA412362611CDKL5c.1763C>A (p.Pro588His)
c.1712C>A (p.Pro571His)
c.1631C>A (p.Pro544His)
n.2015C>A
Xg.18604687C>GCA412362613CDKL5c.1763C>G (p.Pro588Arg)
c.1712C>G (p.Pro571Arg)
c.1631C>G (p.Pro544Arg)
n.2015C>G
Xg.18604687C>TCA412362615CDKL5c.1763C>T (p.Pro588Leu)
c.1712C>T (p.Pro571Leu)
c.1631C>T (p.Pro544Leu)
n.2015C>T
 gnomAD v4
Xg.18604688T>ACA515627944CDKL5c.1764T>A (p.Pro588=)
c.1713T>A (p.Pro571=)
c.1632T>A (p.Pro544=)
n.2016T>A
Xg.18604688T>CCA515627945CDKL5c.1764T>C (p.Pro588=)
c.1713T>C (p.Pro571=)
c.1632T>C (p.Pro544=)
n.2016T>C
Xg.18604688T>GCA515627946CDKL5c.1764T>G (p.Pro588=)
c.1713T>G (p.Pro571=)
c.1632T>G (p.Pro544=)
n.2016T>G
 gnomAD v4
Xg.18604689C>ACA412362616CDKL5c.1765C>A (p.His589Asn)
c.1714C>A (p.His572Asn)
c.1633C>A (p.His545Asn)
n.2017C>A
Xg.18604689C>GCA412362618CDKL5c.1765C>G (p.His589Asp)
c.1714C>G (p.His572Asp)
c.1633C>G (p.His545Asp)
n.2017C>G
Xg.18604689C>TCA412362620CDKL5c.1765C>T (p.His589Tyr)
c.1714C>T (p.His572Tyr)
c.1633C>T (p.His545Tyr)
n.2017C>T
Xg.18604690A>CCA412362622CDKL5c.1766A>C (p.His589Pro)
c.1715A>C (p.His572Pro)
c.1634A>C (p.His545Pro)
n.2018A>C
Xg.18604690A>GCA412362624CDKL5c.1766A>G (p.His589Arg)
c.1715A>G (p.His572Arg)
c.1634A>G (p.His545Arg)
n.2018A>G
 ClinVar dbSNP gnomAD v4
Xg.18604690A>TCA412362626CDKL5c.1766A>T (p.His589Leu)
c.1715A>T (p.His572Leu)
c.1634A>T (p.His545Leu)
n.2018A>T
Xg.18604691C>ACA412362629CDKL5c.1767C>A (p.His589Gln)
c.1716C>A (p.His572Gln)
c.1635C>A (p.His545Gln)
n.2019C>A
Xg.18604691C=CA2417974492CDKL5c.1767C= (p.His589=)
c.1716C= (p.His572=)
c.1635C= (p.His545=)
n.2019C=
Xg.18604691C>GCA412362631CDKL5c.1767C>G (p.His589Gln)
c.1716C>G (p.His572Gln)
c.1635C>G (p.His545Gln)
n.2019C>G
Xg.18604691C>TCA170454CDKL5c.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
Xg.18604692G>ACA10360416CDKL5c.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
Xg.18604692G>CCA412362634CDKL5c.1768G>C (p.Glu590Gln)
c.1717G>C (p.Glu573Gln)
c.1636G>C (p.Glu546Gln)
n.2020G>C
Xg.18604692G=CA2417974493CDKL5c.1768G= (p.Glu590=)
c.1717G= (p.Glu573=)
c.1636G= (p.Glu546=)
n.2020G=
Xg.18604692G>TCA412362636CDKL5c.1768G>T (p.Glu590Ter)
c.1717G>T (p.Glu573Ter)
c.1636G>T (p.Glu546Ter)
n.2020G>T
Xg.18604693A>CCA412362639CDKL5c.1769A>C (p.Glu590Ala)
c.1718A>C (p.Glu573Ala)
c.1637A>C (p.Glu546Ala)
n.2021A>C
Xg.18604693A>GCA412362640CDKL5c.1769A>G (p.Glu590Gly)
c.1718A>G (p.Glu573Gly)
c.1637A>G (p.Glu546Gly)
n.2021A>G
Xg.18604693A>TCA412362642CDKL5c.1769A>T (p.Glu590Val)
c.1718A>T (p.Glu573Val)
c.1637A>T (p.Glu546Val)
n.2021A>T
Xg.18604694A>CCA412362644CDKL5c.1770A>C (p.Glu590Asp)
c.1719A>C (p.Glu573Asp)
c.1638A>C (p.Glu546Asp)
n.2022A>C
Xg.18604694A>GCA515627947CDKL5c.1770A>G (p.Glu590=)
c.1719A>G (p.Glu573=)
c.1638A>G (p.Glu546=)
n.2022A>G
Xg.18604694A>TCA412362645CDKL5c.1770A>T (p.Glu590Asp)
c.1719A>T (p.Glu573Asp)
c.1638A>T (p.Glu546Asp)
n.2022A>T
Xg.18604694_18604695insCCAAACACACCCAACACACA2819902322CDKL5c.1770_1771insCCAAACACACCCAACACA (p.Glu590_Ser591insProAsnThrProAsnThr)
c.1719_1720insCCAAACACACCCAACACA (p.Glu573_Ser574insProAsnThrProAsnThr)
c.1638_1639insCCAAACACACCCAACACA (p.Glu546_Ser547insProAsnThrProAsnThr)
n.2022_2023insCCAAACACACCCAACACA
Xg.18604695T>ACA412362648CDKL5c.1771T>A (p.Ser591Thr)
c.1720T>A (p.Ser574Thr)
c.1639T>A (p.Ser547Thr)
n.2023T>A
Xg.18604695T>CCA412362650CDKL5c.1771T>C (p.Ser591Pro)
c.1720T>C (p.Ser574Pro)
c.1639T>C (p.Ser547Pro)
n.2023T>C
 gnomAD v4
Xg.18604695T>GCA412362652CDKL5c.1771T>G (p.Ser591Ala)
c.1720T>G (p.Ser574Ala)
c.1639T>G (p.Ser547Ala)
n.2023T>G
Xg.18604696C>ACA412362654CDKL5c.1772C>A (p.Ser591Tyr)
c.1721C>A (p.Ser574Tyr)
c.1640C>A (p.Ser547Tyr)
n.2024C>A
Xg.18604696C>GCA412362656CDKL5c.1772C>G (p.Ser591Cys)
c.1721C>G (p.Ser574Cys)
c.1640C>G (p.Ser547Cys)
n.2024C>G
 ClinVar
Xg.18604696C>TCA412362657CDKL5c.1772C>T (p.Ser591Phe)
c.1721C>T (p.Ser574Phe)
c.1640C>T (p.Ser547Phe)
n.2024C>T
Xg.18604696_18604698delinsCTTCA2417974494CDKL5c.1772_1774delinsCTT (p.Ser591=)
c.1721_1723delinsCTT (p.Ser574=)
c.1640_1642delinsCTT (p.Ser547=)
n.2024_2026delinsCTT
Xg.18604697T>ACA515627949CDKL5c.1773T>A (p.Ser591=)
c.1722T>A (p.Ser574=)
c.1641T>A (p.Ser547=)
n.2025T>A
 gnomAD v4
Xg.18604697T>CCA515627950CDKL5c.1773T>C (p.Ser591=)
c.1722T>C (p.Ser574=)
c.1641T>C (p.Ser547=)
n.2025T>C
Xg.18604697T>GCA515627951CDKL5c.1773T>G (p.Ser591=)
c.1722T>G (p.Ser574=)
c.1641T>G (p.Ser547=)
n.2025T>G
Xg.18604701delCA16621279CDKL5c.1777del (p.Ser593LeufsTer23)
c.1726del (p.Ser576LeufsTer23)
c.1645del (p.Ser549LeufsTer23)
n.2029del
 ClinVar dbSNP
Xg.18604700_18604701delCA16621278CDKL5c.1776_1777del (p.Ser593LeufsTer17)
c.1725_1726del (p.Ser576LeufsTer17)
c.1644_1645del (p.Ser549LeufsTer17)
n.2028_2029del
 ClinVar dbSNP
Xg.18604698T>ACA412362660CDKL5c.1774T>A (p.Phe592Ile)
c.1723T>A (p.Phe575Ile)
c.1642T>A (p.Phe548Ile)
n.2026T>A
Xg.18604698T>CCA412362664CDKL5c.1774T>C (p.Phe592Leu)
c.1723T>C (p.Phe575Leu)
c.1642T>C (p.Phe548Leu)
n.2026T>C
Xg.18604698T>GCA412362661CDKL5c.1774T>G (p.Phe592Val)
c.1723T>G (p.Phe575Val)
c.1642T>G (p.Phe548Val)
n.2026T>G
Xg.18604699T>ACA412362666CDKL5c.1775T>A (p.Phe592Tyr)
c.1724T>A (p.Phe575Tyr)
c.1643T>A (p.Phe548Tyr)
n.2027T>A
Xg.18604699T>CCA412362667CDKL5c.1775T>C (p.Phe592Ser)
c.1724T>C (p.Phe575Ser)
c.1643T>C (p.Phe548Ser)
n.2027T>C
Xg.18604699T>GCA412362668CDKL5c.1775T>G (p.Phe592Cys)
c.1724T>G (p.Phe575Cys)
c.1643T>G (p.Phe548Cys)
n.2027T>G
Xg.18604700T>ACA412362670CDKL5c.1776T>A (p.Phe592Leu)
c.1725T>A (p.Phe575Leu)
c.1644T>A (p.Phe548Leu)
n.2028T>A
Xg.18604700T>CCA515627953CDKL5c.1776T>C (p.Phe592=)
c.1725T>C (p.Phe575=)
c.1644T>C (p.Phe548=)
n.2028T>C
Xg.18604700T>GCA412362672CDKL5c.1776T>G (p.Phe592Leu)
c.1725T>G (p.Phe575Leu)
c.1644T>G (p.Phe548Leu)
n.2028T>G
Xg.18604701T>ACA412362674CDKL5c.1777T>A (p.Ser593Thr)
c.1726T>A (p.Ser576Thr)
c.1645T>A (p.Ser549Thr)
n.2029T>A
Xg.18604701T>CCA412362675CDKL5c.1777T>C (p.Ser593Pro)
c.1726T>C (p.Ser576Pro)
c.1645T>C (p.Ser549Pro)
n.2029T>C
Xg.18604701T>GCA412362677CDKL5c.1777T>G (p.Ser593Ala)
c.1726T>G (p.Ser576Ala)
c.1645T>G (p.Ser549Ala)
n.2029T>G
Xg.18604702C>ACA412362680CDKL5c.1778C>A (p.Ser593Tyr)
c.1727C>A (p.Ser576Tyr)
c.1646C>A (p.Ser549Tyr)
n.2030C>A
 COSMIC
Xg.18604702C>GCA412362682CDKL5c.1778C>G (p.Ser593Cys)
c.1727C>G (p.Ser576Cys)
c.1646C>G (p.Ser549Cys)
n.2030C>G
Xg.18604702C>TCA412362684CDKL5c.1778C>T (p.Ser593Phe)
c.1727C>T (p.Ser576Phe)
c.1646C>T (p.Ser549Phe)
n.2030C>T
Xg.18604703T>ACA515627959CDKL5c.1779T>A (p.Ser593=)
c.1728T>A (p.Ser576=)
c.1647T>A (p.Ser549=)
n.2031T>A
Xg.18604703T>CCA515627960CDKL5c.1779T>C (p.Ser593=)
c.1728T>C (p.Ser576=)
c.1647T>C (p.Ser549=)
n.2031T>C
Xg.18604703T>GCA515627958CDKL5c.1779T>G (p.Ser593=)
c.1728T>G (p.Ser576=)
c.1647T>G (p.Ser549=)
n.2031T>G
Xg.18604704T>ACA412362688CDKL5c.1780T>A (p.Tyr594Asn)
c.1729T>A (p.Tyr577Asn)
c.1648T>A (p.Tyr550Asn)
n.2032T>A
Xg.18604704T>CCA412362690CDKL5c.1780T>C (p.Tyr594His)
c.1729T>C (p.Tyr577His)
c.1648T>C (p.Tyr550His)
n.2032T>C
Xg.18604704T>GCA412362686CDKL5c.1780T>G (p.Tyr594Asp)
c.1729T>G (p.Tyr577Asp)
c.1648T>G (p.Tyr550Asp)
n.2032T>G
Xg.18604705A>CCA412362693CDKL5c.1781A>C (p.Tyr594Ser)
c.1730A>C (p.Tyr577Ser)
c.1649A>C (p.Tyr550Ser)
n.2033A>C
Xg.18604705A>GCA412362695CDKL5c.1781A>G (p.Tyr594Cys)
c.1730A>G (p.Tyr577Cys)
c.1649A>G (p.Tyr550Cys)
n.2033A>G
Xg.18604705A>TCA412362697CDKL5c.1781A>T (p.Tyr594Phe)
c.1730A>T (p.Tyr577Phe)
c.1649A>T (p.Tyr550Phe)
n.2033A>T
Xg.18604706T>ACA412362700CDKL5c.1782T>A (p.Tyr594Ter)
c.1731T>A (p.Tyr577Ter)
c.1650T>A (p.Tyr550Ter)
n.2034T>A
Xg.18604706T>CCA10360417CDKL5c.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
Xg.18604706T>GCA412362704CDKL5c.1782T>G (p.Tyr594Ter)
c.1731T>G (p.Tyr577Ter)
c.1650T>G (p.Tyr550Ter)
n.2034T>G
Xg.18604706T=CA2417974495CDKL5c.1782T= (p.Tyr594=)
c.1731T= (p.Tyr577=)
c.1650T= (p.Tyr550=)
n.2034T=
Xg.18604707G>ACA412362707CDKL5c.1783G>A (p.Gly595Arg)
c.1732G>A (p.Gly578Arg)
c.1651G>A (p.Gly551Arg)
n.2035G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18604707G>CCA412362710CDKL5c.1783G>C (p.Gly595Arg)
c.1732G>C (p.Gly578Arg)
c.1651G>C (p.Gly551Arg)
n.2035G>C
Xg.18604707G=CA2417974496CDKL5c.1783G= (p.Gly595=)
c.1732G= (p.Gly578=)
c.1651G= (p.Gly551=)
n.2035G=
Xg.18604707G>TCA412362713CDKL5c.1783G>T (p.Gly595Ter)
c.1732G>T (p.Gly578Ter)
c.1651G>T (p.Gly551Ter)
n.2035G>T
Xg.18604708dupCA199383CDKL5c.1784dup (p.Leu596ThrfsTer15)
c.1733dup (p.Leu579ThrfsTer15)
c.1652dup (p.Leu552ThrfsTer15)
n.2036dup
 ClinVar dbSNP
Xg.18604708G>ACA412362716CDKL5c.1784G>A (p.Gly595Glu)
c.1733G>A (p.Gly578Glu)
c.1652G>A (p.Gly551Glu)
n.2036G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18604708G>CCA412362720CDKL5c.1784G>C (p.Gly595Ala)
c.1733G>C (p.Gly578Ala)
c.1652G>C (p.Gly551Ala)
n.2036G>C
Xg.18604708G=CA2417974497CDKL5c.1784G= (p.Gly595=)
c.1733G= (p.Gly578=)
c.1652G= (p.Gly551=)
n.2036G=
Xg.18604708G>TCA412362722CDKL5c.1784G>T (p.Gly595Val)
c.1733G>T (p.Gly578Val)
c.1652G>T (p.Gly551Val)
n.2036G>T
Xg.18604709delCA2695231322CDKL5c.1785del (p.Leu596TrpfsTer20)
c.1734del (p.Leu579TrpfsTer20)
c.1653del (p.Leu552TrpfsTer20)
n.2037del
Xg.18604709A>CCA515627963CDKL5c.1785A>C (p.Gly595=)
c.1734A>C (p.Gly578=)
c.1653A>C (p.Gly551=)
n.2037A>C
Xg.18604709A>GCA515627964CDKL5c.1785A>G (p.Gly595=)
c.1734A>G (p.Gly578=)
c.1653A>G (p.Gly551=)
n.2037A>G
Xg.18604709A>TCA515627965CDKL5c.1785A>T (p.Gly595=)
c.1734A>T (p.Gly578=)
c.1653A>T (p.Gly551=)
n.2037A>T
Xg.18604710C>ACA412362729CDKL5c.1786C>A (p.Leu596Met)
c.1735C>A (p.Leu579Met)
c.1654C>A (p.Leu552Met)
n.2038C>A
Xg.18604710C=CA2417974498CDKL5c.1786C= (p.Leu596=)
c.1735C= (p.Leu579=)
c.1654C= (p.Leu552=)
n.2038C=
Xg.18604710C>GCA412362732CDKL5c.1786C>G (p.Leu596Val)
c.1735C>G (p.Leu579Val)
c.1654C>G (p.Leu552Val)
n.2038C>G
Xg.18604710C>TCA10360418CDKL5c.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
Xg.18604711T>ACA412362735CDKL5c.1787T>A (p.Leu596Gln)
c.1736T>A (p.Leu579Gln)
c.1655T>A (p.Leu552Gln)
n.2039T>A
Xg.18604711T>CCA412362736CDKL5c.1787T>C (p.Leu596Pro)
c.1736T>C (p.Leu579Pro)
c.1655T>C (p.Leu552Pro)
n.2039T>C
Xg.18604711T>GCA412362740CDKL5c.1787T>G (p.Leu596Arg)
c.1736T>G (p.Leu579Arg)
c.1655T>G (p.Leu552Arg)
n.2039T>G
Xg.18604712G>ACA515627968CDKL5c.1788G>A (p.Leu596=)
c.1737G>A (p.Leu579=)
c.1656G>A (p.Leu552=)
n.2040G>A
Xg.18604712G>CCA515627971CDKL5c.1788G>C (p.Leu596=)
c.1737G>C (p.Leu579=)
c.1656G>C (p.Leu552=)
n.2040G>C
Xg.18604712G>TCA515627973CDKL5c.1788G>T (p.Leu596=)
c.1737G>T (p.Leu579=)
c.1656G>T (p.Leu552=)
n.2040G>T
 COSMIC
Xg.18604714dupCA2695231323CDKL5c.1790dup (p.Tyr598LeufsTer13)
c.1739dup (p.Tyr581LeufsTer13)
c.1658dup (p.Tyr554LeufsTer13)
n.2042dup
Xg.18604714delCA2580100477CDKL5c.1790del (p.Gly597AlafsTer19)
c.1739del (p.Gly580AlafsTer19)
c.1658del (p.Gly553AlafsTer19)
n.2042del
 ClinVar
Xg.18604713G>ACA412362744CDKL5c.1789G>A (p.Gly597Ser)
c.1738G>A (p.Gly580Ser)
c.1657G>A (p.Gly553Ser)
n.2041G>A
Xg.18604713G>CCA412362747CDKL5c.1789G>C (p.Gly597Arg)
c.1738G>C (p.Gly580Arg)
c.1657G>C (p.Gly553Arg)
n.2041G>C
Xg.18604713G>TCA412362750CDKL5c.1789G>T (p.Gly597Cys)
c.1738G>T (p.Gly580Cys)
c.1657G>T (p.Gly553Cys)
n.2041G>T
 dbSNP
Xg.18604714G>ACA412362761CDKL5c.1790G>A (p.Gly597Asp)
c.1739G>A (p.Gly580Asp)
c.1658G>A (p.Gly553Asp)
n.2042G>A
Xg.18604714G>CCA412362754CDKL5c.1790G>C (p.Gly597Ala)
c.1739G>C (p.Gly580Ala)
c.1658G>C (p.Gly553Ala)
n.2042G>C
Xg.18604714G>TCA412362757CDKL5c.1790G>T (p.Gly597Val)
c.1739G>T (p.Gly580Val)
c.1658G>T (p.Gly553Val)
n.2042G>T
Xg.18604715delCA2695231325CDKL5c.1791del (p.Tyr598ThrfsTer18)
c.1740del (p.Tyr581ThrfsTer18)
c.1659del (p.Tyr554ThrfsTer18)
n.2043del
Xg.18604715C>ACA515627975CDKL5c.1791C>A (p.Gly597=)
c.1740C>A (p.Gly580=)
c.1659C>A (p.Gly553=)
n.2043C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604715C=CA2417974499CDKL5c.1791C= (p.Gly597=)
c.1740C= (p.Gly580=)
c.1659C= (p.Gly553=)
n.2043C=
Xg.18604715C>GCA515627976CDKL5c.1791C>G (p.Gly597=)
c.1740C>G (p.Gly580=)
c.1659C>G (p.Gly553=)
n.2043C>G
Xg.18604715C>TCA515627978CDKL5c.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
Xg.18604716T>ACA412362765CDKL5c.1792T>A (p.Tyr598Asn)
c.1741T>A (p.Tyr581Asn)
c.1660T>A (p.Tyr554Asn)
n.2044T>A
Xg.18604716T>CCA412362767CDKL5c.1792T>C (p.Tyr598His)
c.1741T>C (p.Tyr581His)
c.1660T>C (p.Tyr554His)
n.2044T>C
Xg.18604716T>GCA412362770CDKL5c.1792T>G (p.Tyr598Asp)
c.1741T>G (p.Tyr581Asp)
c.1660T>G (p.Tyr554Asp)
n.2044T>G
Xg.18604717A>CCA412362772CDKL5c.1793A>C (p.Tyr598Ser)
c.1742A>C (p.Tyr581Ser)
c.1661A>C (p.Tyr554Ser)
n.2045A>C
Xg.18604717A>GCA412362774CDKL5c.1793A>G (p.Tyr598Cys)
c.1742A>G (p.Tyr581Cys)
c.1661A>G (p.Tyr554Cys)
n.2045A>G
Xg.18604717A>TCA412362777CDKL5c.1793A>T (p.Tyr598Phe)
c.1742A>T (p.Tyr581Phe)
c.1661A>T (p.Tyr554Phe)
n.2045A>T
Xg.18604718C>ACA412362781CDKL5c.1794C>A (p.Tyr598Ter)
c.1743C>A (p.Tyr581Ter)
c.1662C>A (p.Tyr554Ter)
n.2046C>A
Xg.18604718C=CA2417974500CDKL5c.1794C= (p.Tyr598=)
c.1743C= (p.Tyr581=)
c.1662C= (p.Tyr554=)
n.2046C=
Xg.18604718C>GCA412362783CDKL5c.1794C>G (p.Tyr598Ter)
c.1743C>G (p.Tyr581Ter)
c.1662C>G (p.Tyr554Ter)
n.2046C>G
Xg.18604718C>TCA515627986CDKL5c.1794C>T (p.Tyr598=)
c.1743C>T (p.Tyr581=)
c.1662C>T (p.Tyr554=)
n.2046C>T
Xg.18604719A=CA2417974501CDKL5c.1795A= (p.Thr599=)
c.1744A= (p.Thr582=)
c.1663A= (p.Thr555=)
n.2047A=
Xg.18604719A>CCA10360419CDKL5c.1795A>C (p.Thr599Pro)
c.1744A>C (p.Thr582Pro)
c.1663A>C (p.Thr555Pro)
n.2047A>C
 dbSNP ExAC gnomAD v2
Xg.18604719A>GCA16621280CDKL5c.1795A>G (p.Thr599Ala)
c.1744A>G (p.Thr582Ala)
c.1663A>G (p.Thr555Ala)
n.2047A>G
 ClinVar dbSNP gnomAD v4
Xg.18604719A>TCA412362788CDKL5c.1795A>T (p.Thr599Ser)
c.1744A>T (p.Thr582Ser)
c.1663A>T (p.Thr555Ser)
n.2047A>T
Xg.18604719dupCA294682CDKL5c.1795dup (p.Thr599AsnfsTer12)
c.1744dup (p.Thr582AsnfsTer12)
c.1663dup (p.Thr555AsnfsTer12)
n.2047dup
 ClinVar dbSNP
Xg.18604720C>ACA412362794CDKL5c.1796C>A (p.Thr599Asn)
c.1745C>A (p.Thr582Asn)
c.1664C>A (p.Thr555Asn)
n.2048C>A
Xg.18604720C>GCA412362798CDKL5c.1796C>G (p.Thr599Ser)
c.1745C>G (p.Thr582Ser)
c.1664C>G (p.Thr555Ser)
n.2048C>G
 gnomAD v4
Xg.18604720C>TCA412362796CDKL5c.1796C>T (p.Thr599Ile)
c.1745C>T (p.Thr582Ile)
c.1664C>T (p.Thr555Ile)
n.2048C>T
Xg.18604721dupCA171620CDKL5c.1797dup (p.Ser600GlnfsTer11)
c.1746dup (p.Ser583GlnfsTer11)
c.1665dup (p.Ser556GlnfsTer11)
n.2049dup
 ClinVar dbSNP
Xg.18604721C>ACA515627988CDKL5c.1797C>A (p.Thr599=)
c.1746C>A (p.Thr582=)
c.1665C>A (p.Thr555=)
n.2049C>A
Xg.18604721C=CA2417974502CDKL5c.1797C= (p.Thr599=)
c.1746C= (p.Thr582=)
c.1665C= (p.Thr555=)
n.2049C=
Xg.18604721C>GCA147629CDKL5c.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
Xg.18604721C>TCA515627990CDKL5c.1797C>T (p.Thr599=)
c.1746C>T (p.Thr582=)
c.1665C>T (p.Thr555=)
n.2049C>T

Number of alleles fetched