Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
Xg.18604722A>CCA412362805CDKL5c.1798A>C (p.Ser600Arg)
c.1747A>C (p.Ser583Arg)
c.1666A>C (p.Ser556Arg)
n.2050A>C
Xg.18604722A>GCA412362808CDKL5c.1798A>G (p.Ser600Gly)
c.1747A>G (p.Ser583Gly)
c.1666A>G (p.Ser556Gly)
n.2050A>G
Xg.18604722A>TCA412362810CDKL5c.1798A>T (p.Ser600Cys)
c.1747A>T (p.Ser583Cys)
c.1666A>T (p.Ser556Cys)
n.2050A>T
Xg.18604723G>ACA412362812CDKL5c.1799G>A (p.Ser600Asn)
c.1748G>A (p.Ser583Asn)
c.1667G>A (p.Ser556Asn)
n.2051G>A
Xg.18604723G>CCA412362816CDKL5c.1799G>C (p.Ser600Thr)
c.1748G>C (p.Ser583Thr)
c.1667G>C (p.Ser556Thr)
n.2051G>C
Xg.18604723G>TCA412362819CDKL5c.1799G>T (p.Ser600Ile)
c.1748G>T (p.Ser583Ile)
c.1667G>T (p.Ser556Ile)
n.2051G>T
 ClinVar dbSNP
Xg.18604724C>ACA10360421CDKL5c.1800C>A (p.Ser600Arg)
c.1749C>A (p.Ser583Arg)
c.1668C>A (p.Ser556Arg)
n.2052C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604724C=CA2417974503CDKL5c.1800C= (p.Ser600=)
c.1749C= (p.Ser583=)
c.1668C= (p.Ser556=)
n.2052C=
Xg.18604724C>GCA412362824CDKL5c.1800C>G (p.Ser600Arg)
c.1749C>G (p.Ser583Arg)
c.1668C>G (p.Ser556Arg)
n.2052C>G
Xg.18604724C>TCA10360420CDKL5c.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
Xg.18604725C>ACA412362830CDKL5c.1801C>A (p.Pro601Thr)
c.1750C>A (p.Pro584Thr)
c.1669C>A (p.Pro557Thr)
n.2053C>A
Xg.18604725C>GCA412362832CDKL5c.1801C>G (p.Pro601Ala)
c.1750C>G (p.Pro584Ala)
c.1669C>G (p.Pro557Ala)
n.2053C>G
Xg.18604725C>TCA412362835CDKL5c.1801C>T (p.Pro601Ser)
c.1750C>T (p.Pro584Ser)
c.1669C>T (p.Pro557Ser)
n.2053C>T
 dbSNP
Xg.18604726C>ACA412362837CDKL5c.1802C>A (p.Pro601His)
c.1751C>A (p.Pro584His)
c.1670C>A (p.Pro557His)
n.2054C>A
Xg.18604726C>GCA412362842CDKL5c.1802C>G (p.Pro601Arg)
c.1751C>G (p.Pro584Arg)
c.1670C>G (p.Pro557Arg)
n.2054C>G
Xg.18604726C>TCA412362839CDKL5c.1802C>T (p.Pro601Leu)
c.1751C>T (p.Pro584Leu)
c.1670C>T (p.Pro557Leu)
n.2054C>T
 dbSNP
Xg.18604727C>ACA515627998CDKL5c.1803C>A (p.Pro601=)
c.1752C>A (p.Pro584=)
c.1671C>A (p.Pro557=)
n.2055C>A
 dbSNP
Xg.18604727C=CA2417974504CDKL5c.1803C= (p.Pro601=)
c.1752C= (p.Pro584=)
c.1671C= (p.Pro557=)
n.2055C=
Xg.18604727C>GCA515628000CDKL5c.1803C>G (p.Pro601=)
c.1752C>G (p.Pro584=)
c.1671C>G (p.Pro557=)
n.2055C>G
 ClinVar gnomAD v4
Xg.18604727C>TCA10360422CDKL5c.1803C>T (p.Pro601=)
c.1752C>T (p.Pro584=)
c.1671C>T (p.Pro557=)
n.2055C>T
 dbSNP ExAC gnomAD v4
Xg.18604728T>ACA412362848CDKL5c.1804T>A (p.Phe602Ile)
c.1753T>A (p.Phe585Ile)
c.1672T>A (p.Phe558Ile)
n.2056T>A
Xg.18604728T>CCA412362851CDKL5c.1804T>C (p.Phe602Leu)
c.1753T>C (p.Phe585Leu)
c.1672T>C (p.Phe558Leu)
n.2056T>C
Xg.18604728T>GCA412362853CDKL5c.1804T>G (p.Phe602Val)
c.1753T>G (p.Phe585Val)
c.1672T>G (p.Phe558Val)
n.2056T>G
Xg.18604729T>ACA412362857CDKL5c.1805T>A (p.Phe602Tyr)
c.1754T>A (p.Phe585Tyr)
c.1673T>A (p.Phe558Tyr)
n.2057T>A
Xg.18604729T>CCA412362859CDKL5c.1805T>C (p.Phe602Ser)
c.1754T>C (p.Phe585Ser)
c.1673T>C (p.Phe558Ser)
n.2057T>C
Xg.18604729T>GCA412362861CDKL5c.1805T>G (p.Phe602Cys)
c.1754T>G (p.Phe585Cys)
c.1673T>G (p.Phe558Cys)
n.2057T>G
Xg.18604730T>ACA412362869CDKL5c.1806T>A (p.Phe602Leu)
c.1755T>A (p.Phe585Leu)
c.1674T>A (p.Phe558Leu)
n.2058T>A
Xg.18604730T>CCA515628009CDKL5c.1806T>C (p.Phe602=)
c.1755T>C (p.Phe585=)
c.1674T>C (p.Phe558=)
n.2058T>C
Xg.18604730T>GCA412362872CDKL5c.1806T>G (p.Phe602Leu)
c.1755T>G (p.Phe585Leu)
c.1674T>G (p.Phe558Leu)
n.2058T>G
Xg.18604731T>ACA412362881CDKL5c.1807T>A (p.Ser603Thr)
c.1756T>A (p.Ser586Thr)
c.1675T>A (p.Ser559Thr)
n.2059T>A
Xg.18604731T>CCA412362879CDKL5c.1807T>C (p.Ser603Pro)
c.1756T>C (p.Ser586Pro)
c.1675T>C (p.Ser559Pro)
n.2059T>C
Xg.18604731T>GCA412362877CDKL5c.1807T>G (p.Ser603Ala)
c.1756T>G (p.Ser586Ala)
c.1675T>G (p.Ser559Ala)
n.2059T>G
Xg.18604732C>ACA412362884CDKL5c.1808C>A (p.Ser603Tyr)
c.1757C>A (p.Ser586Tyr)
c.1676C>A (p.Ser559Tyr)
n.2060C>A
Xg.18604732C>GCA412362886CDKL5c.1808C>G (p.Ser603Cys)
c.1757C>G (p.Ser586Cys)
c.1676C>G (p.Ser559Cys)
n.2060C>G
Xg.18604732C>TCA412362888CDKL5c.1808C>T (p.Ser603Phe)
c.1757C>T (p.Ser586Phe)
c.1676C>T (p.Ser559Phe)
n.2060C>T
 COSMIC
Xg.18604733T>ACA515628015CDKL5c.1809T>A (p.Ser603=)
c.1758T>A (p.Ser586=)
c.1677T>A (p.Ser559=)
n.2061T>A
Xg.18604733T>CCA515628016CDKL5c.1809T>C (p.Ser603=)
c.1758T>C (p.Ser586=)
c.1677T>C (p.Ser559=)
n.2061T>C
Xg.18604733T>GCA515628017CDKL5c.1809T>G (p.Ser603=)
c.1758T>G (p.Ser586=)
c.1677T>G (p.Ser559=)
n.2061T>G
Xg.18604734T>ACA412362890CDKL5c.1810T>A (p.Ser604Thr)
c.1759T>A (p.Ser587Thr)
c.1678T>A (p.Ser560Thr)
n.2062T>A
Xg.18604734T>CCA412362893CDKL5c.1810T>C (p.Ser604Pro)
c.1759T>C (p.Ser587Pro)
c.1678T>C (p.Ser560Pro)
n.2062T>C
 COSMIC
Xg.18604734T>GCA412362896CDKL5c.1810T>G (p.Ser604Ala)
c.1759T>G (p.Ser587Ala)
c.1678T>G (p.Ser560Ala)
n.2062T>G
Xg.18604735C>ACA412362899CDKL5c.1811C>A (p.Ser604Tyr)
c.1760C>A (p.Ser587Tyr)
c.1679C>A (p.Ser560Tyr)
n.2063C>A
Xg.18604735C>GCA412362902CDKL5c.1811C>G (p.Ser604Cys)
c.1760C>G (p.Ser587Cys)
c.1679C>G (p.Ser560Cys)
n.2063C>G
Xg.18604735C>TCA412362905CDKL5c.1811C>T (p.Ser604Phe)
c.1760C>T (p.Ser587Phe)
c.1679C>T (p.Ser560Phe)
n.2063C>T
Xg.18604736C>ACA515628021CDKL5c.1812C>A (p.Ser604=)
c.1761C>A (p.Ser587=)
c.1680C>A (p.Ser560=)
n.2064C>A
Xg.18604736C>GCA515628023CDKL5c.1812C>G (p.Ser604=)
c.1761C>G (p.Ser587=)
c.1680C>G (p.Ser560=)
n.2064C>G
Xg.18604736C>TCA515628022CDKL5c.1812C>T (p.Ser604=)
c.1761C>T (p.Ser587=)
c.1680C>T (p.Ser560=)
n.2064C>T
Xg.18604737C>ACA412362907CDKL5c.1813C>A (p.Gln605Lys)
c.1762C>A (p.Gln588Lys)
c.1681C>A (p.Gln561Lys)
n.2065C>A
Xg.18604737C=CA2417974505CDKL5c.1813C= (p.Gln605=)
c.1762C= (p.Gln588=)
c.1681C= (p.Gln561=)
n.2065C=
Xg.18604737C>GCA412362910CDKL5c.1813C>G (p.Gln605Glu)
c.1762C>G (p.Gln588Glu)
c.1681C>G (p.Gln561Glu)
n.2065C>G
Xg.18604737C>TCA412362914CDKL5c.1813C>T (p.Gln605Ter)
c.1762C>T (p.Gln588Ter)
c.1681C>T (p.Gln561Ter)
n.2065C>T
 ClinVar dbSNP
Xg.18604738A>CCA412362923CDKL5c.1814A>C (p.Gln605Pro)
c.1763A>C (p.Gln588Pro)
c.1682A>C (p.Gln561Pro)
n.2066A>C
Xg.18604738A>GCA412362917CDKL5c.1814A>G (p.Gln605Arg)
c.1763A>G (p.Gln588Arg)
c.1682A>G (p.Gln561Arg)
n.2066A>G
Xg.18604738A>TCA412362920CDKL5c.1814A>T (p.Gln605Leu)
c.1763A>T (p.Gln588Leu)
c.1682A>T (p.Gln561Leu)
n.2066A>T
Xg.18604739G>ACA515628024CDKL5c.1815G>A (p.Gln605=)
c.1764G>A (p.Gln588=)
c.1683G>A (p.Gln561=)
n.2067G>A
 ClinVar
Xg.18604739G>CCA412362927CDKL5c.1815G>C (p.Gln605His)
c.1764G>C (p.Gln588His)
c.1683G>C (p.Gln561His)
n.2067G>C
Xg.18604739G>TCA412362929CDKL5c.1815G>T (p.Gln605His)
c.1764G>T (p.Gln588His)
c.1683G>T (p.Gln561His)
n.2067G>T
Xg.18604740C>ACA412362934CDKL5c.1816C>A (p.Gln606Lys)
c.1765C>A (p.Gln589Lys)
c.1684C>A (p.Gln562Lys)
n.2068C>A
Xg.18604740C=CA2417974506CDKL5c.1816C= (p.Gln606=)
c.1765C= (p.Gln589=)
c.1684C= (p.Gln562=)
n.2068C=
Xg.18604740C>GCA412362936CDKL5c.1816C>G (p.Gln606Glu)
c.1765C>G (p.Gln589Glu)
c.1684C>G (p.Gln562Glu)
n.2068C>G
Xg.18604740C>TCA412362939CDKL5c.1816C>T (p.Gln606Ter)
c.1765C>T (p.Gln589Ter)
c.1684C>T (p.Gln562Ter)
n.2068C>T
 ClinVar dbSNP
Xg.18604741A=CA2417974507CDKL5c.1817A= (p.Gln606=)
c.1766A= (p.Gln589=)
c.1685A= (p.Gln562=)
n.2069A=
Xg.18604741A>CCA412362942CDKL5c.1817A>C (p.Gln606Pro)
c.1766A>C (p.Gln589Pro)
c.1685A>C (p.Gln562Pro)
n.2069A>C
Xg.18604741A>GCA10360423CDKL5c.1817A>G (p.Gln606Arg)
c.1766A>G (p.Gln589Arg)
c.1685A>G (p.Gln562Arg)
n.2069A>G
 dbSNP ExAC gnomAD v2
Xg.18604741A>TCA412362947CDKL5c.1817A>T (p.Gln606Leu)
c.1766A>T (p.Gln589Leu)
c.1685A>T (p.Gln562Leu)
n.2069A>T
Xg.18604742A=CA2417974508CDKL5c.1818A= (p.Gln606=)
c.1767A= (p.Gln589=)
c.1686A= (p.Gln562=)
n.2070A=
Xg.18604742A>CCA412362949CDKL5c.1818A>C (p.Gln606His)
c.1767A>C (p.Gln589His)
c.1686A>C (p.Gln562His)
n.2070A>C
Xg.18604742A>GCA294757CDKL5c.1818A>G (p.Gln606=)
c.1767A>G (p.Gln589=)
c.1686A>G (p.Gln562=)
n.2070A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604742A>TCA412362959CDKL5c.1818A>T (p.Gln606His)
c.1767A>T (p.Gln589His)
c.1686A>T (p.Gln562His)
n.2070A>T
Xg.18604743C>ACA412362967CDKL5c.1819C>A (p.Arg607Ser)
c.1768C>A (p.Arg590Ser)
c.1687C>A (p.Arg563Ser)
n.2071C>A
Xg.18604743C=CA2417974509CDKL5c.1819C= (p.Arg607=)
c.1768C= (p.Arg590=)
c.1687C= (p.Arg563=)
n.2071C=
Xg.18604743C>GCA412362965CDKL5c.1819C>G (p.Arg607Gly)
c.1768C>G (p.Arg590Gly)
c.1687C>G (p.Arg563Gly)
n.2071C>G
Xg.18604743C>TCA412362962CDKL5c.1819C>T (p.Arg607Cys)
c.1768C>T (p.Arg590Cys)
c.1687C>T (p.Arg563Cys)
n.2071C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.18604744G>ACA412362973CDKL5c.1820G>A (p.Arg607His)
c.1769G>A (p.Arg590His)
c.1688G>A (p.Arg563His)
n.2072G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604744G>CCA412362978CDKL5c.1820G>C (p.Arg607Pro)
c.1769G>C (p.Arg590Pro)
c.1688G>C (p.Arg563Pro)
n.2072G>C
Xg.18604744G=CA2417974510CDKL5c.1820G= (p.Arg607=)
c.1769G= (p.Arg590=)
c.1688G= (p.Arg563=)
n.2072G=
Xg.18604744G>TCA412362976CDKL5c.1820G>T (p.Arg607Leu)
c.1769G>T (p.Arg590Leu)
c.1688G>T (p.Arg563Leu)
n.2072G>T
Xg.18604745T>ACA515628028CDKL5c.1821T>A (p.Arg607=)
c.1770T>A (p.Arg590=)
c.1689T>A (p.Arg563=)
n.2073T>A
Xg.18604745T>CCA515628029CDKL5c.1821T>C (p.Arg607=)
c.1770T>C (p.Arg590=)
c.1689T>C (p.Arg563=)
n.2073T>C
 ClinVar
Xg.18604745T>GCA515628031CDKL5c.1821T>G (p.Arg607=)
c.1770T>G (p.Arg590=)
c.1689T>G (p.Arg563=)
n.2073T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18604745T=CA2417974511CDKL5c.1821T= (p.Arg607=)
c.1770T= (p.Arg590=)
c.1689T= (p.Arg563=)
n.2073T=
Xg.18604746C>ACA412362981CDKL5c.1822C>A (p.Pro608Thr)
c.1771C>A (p.Pro591Thr)
c.1690C>A (p.Pro564Thr)
n.2074C>A
Xg.18604746C=CA2417974512CDKL5c.1822C= (p.Pro608=)
c.1771C= (p.Pro591=)
c.1690C= (p.Pro564=)
n.2074C=
Xg.18604746C>GCA412362983CDKL5c.1822C>G (p.Pro608Ala)
c.1771C>G (p.Pro591Ala)
c.1690C>G (p.Pro564Ala)
n.2074C>G
Xg.18604746C>TCA412362986CDKL5c.1822C>T (p.Pro608Ser)
c.1771C>T (p.Pro591Ser)
c.1690C>T (p.Pro564Ser)
n.2074C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18604747C>ACA412362989CDKL5c.1823C>A (p.Pro608His)
c.1772C>A (p.Pro591His)
c.1691C>A (p.Pro564His)
n.2075C>A
Xg.18604747C=CA2417974513CDKL5c.1823C= (p.Pro608=)
c.1772C= (p.Pro591=)
c.1691C= (p.Pro564=)
n.2075C=
Xg.18604747C>GCA412362991CDKL5c.1823C>G (p.Pro608Arg)
c.1772C>G (p.Pro591Arg)
c.1691C>G (p.Pro564Arg)
n.2075C>G
Xg.18604747C>TCA412362994CDKL5c.1823C>T (p.Pro608Leu)
c.1772C>T (p.Pro591Leu)
c.1691C>T (p.Pro564Leu)
n.2075C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18604748T>ACA515628035CDKL5c.1824T>A (p.Pro608=)
c.1773T>A (p.Pro591=)
c.1692T>A (p.Pro564=)
n.2076T>A
Xg.18604748T>CCA515628036CDKL5c.1824T>C (p.Pro608=)
c.1773T>C (p.Pro591=)
c.1692T>C (p.Pro564=)
n.2076T>C
Xg.18604748T>GCA515628037CDKL5c.1824T>G (p.Pro608=)
c.1773T>G (p.Pro591=)
c.1692T>G (p.Pro564=)
n.2076T>G
Xg.18604749C>ACA412362995CDKL5c.1825C>A (p.His609Asn)
c.1774C>A (p.His592Asn)
c.1693C>A (p.His565Asn)
n.2077C>A
Xg.18604749C>GCA412362996CDKL5c.1825C>G (p.His609Asp)
c.1774C>G (p.His592Asp)
c.1693C>G (p.His565Asp)
n.2077C>G
Xg.18604749C>TCA412362997CDKL5c.1825C>T (p.His609Tyr)
c.1774C>T (p.His592Tyr)
c.1693C>T (p.His565Tyr)
n.2077C>T
 gnomAD v4
Xg.18604750A>CCA412362999CDKL5c.1826A>C (p.His609Pro)
c.1775A>C (p.His592Pro)
c.1694A>C (p.His565Pro)
n.2078A>C
Xg.18604750A>GCA412363001CDKL5c.1826A>G (p.His609Arg)
c.1775A>G (p.His592Arg)
c.1694A>G (p.His565Arg)
n.2078A>G
Xg.18604750A>TCA412363003CDKL5c.1826A>T (p.His609Leu)
c.1775A>T (p.His592Leu)
c.1694A>T (p.His565Leu)
n.2078A>T
Xg.18604751T>ACA412363006CDKL5c.1827T>A (p.His609Gln)
c.1776T>A (p.His592Gln)
c.1695T>A (p.His565Gln)
n.2079T>A
Xg.18604751T>CCA10360424CDKL5c.1827T>C (p.His609=)
c.1776T>C (p.His592=)
c.1695T>C (p.His565=)
n.2079T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604751T>GCA412363008CDKL5c.1827T>G (p.His609Gln)
c.1776T>G (p.His592Gln)
c.1695T>G (p.His565Gln)
n.2079T>G
Xg.18604751T=CA2417974514CDKL5c.1827T= (p.His609=)
c.1776T= (p.His592=)
c.1695T= (p.His565=)
n.2079T=
Xg.18604752A>CCA515627591CDKL5c.1828A>C (p.Arg610=)
c.1777A>C (p.Arg593=)
c.1696A>C (p.Arg566=)
n.2080A>C
Xg.18604752A>GCA412363010CDKL5c.1828A>G (p.Arg610Gly)
c.1777A>G (p.Arg593Gly)
c.1696A>G (p.Arg566Gly)
n.2080A>G
Xg.18604752A>TCA412363012CDKL5c.1828A>T (p.Arg610Trp)
c.1777A>T (p.Arg593Trp)
c.1696A>T (p.Arg566Trp)
n.2080A>T
Xg.18604753G>ACA412363016CDKL5c.1829G>A (p.Arg610Lys)
c.1778G>A (p.Arg593Lys)
c.1697G>A (p.Arg566Lys)
n.2081G>A
 gnomAD v4
Xg.18604753G>CCA412363019CDKL5c.1829G>C (p.Arg610Thr)
c.1778G>C (p.Arg593Thr)
c.1697G>C (p.Arg566Thr)
n.2081G>C
Xg.18604753G>TCA412363021CDKL5c.1829G>T (p.Arg610Met)
c.1778G>T (p.Arg593Met)
c.1697G>T (p.Arg566Met)
n.2081G>T
Xg.18604754G>ACA515627594CDKL5c.1830G>A (p.Arg610=)
c.1779G>A (p.Arg593=)
c.1698G>A (p.Arg566=)
n.2082G>A
Xg.18604754G>CCA412363025CDKL5c.1830G>C (p.Arg610Ser)
c.1779G>C (p.Arg593Ser)
c.1698G>C (p.Arg566Ser)
n.2082G>C
Xg.18604754G>TCA412363028CDKL5c.1830G>T (p.Arg610Ser)
c.1779G>T (p.Arg593Ser)
c.1698G>T (p.Arg566Ser)
n.2082G>T
Xg.18604755C>ACA412363031CDKL5c.1831C>A (p.His611Asn)
c.1780C>A (p.His594Asn)
c.1699C>A (p.His567Asn)
n.2083C>A
Xg.18604755C>GCA412363034CDKL5c.1831C>G (p.His611Asp)
c.1780C>G (p.His594Asp)
c.1699C>G (p.His567Asp)
n.2083C>G
Xg.18604755C>TCA412363037CDKL5c.1831C>T (p.His611Tyr)
c.1780C>T (p.His594Tyr)
c.1699C>T (p.His567Tyr)
n.2083C>T
Xg.18604756A>CCA412363059CDKL5c.1832A>C (p.His611Pro)
c.1781A>C (p.His594Pro)
c.1700A>C (p.His567Pro)
n.2084A>C
Xg.18604756A>GCA412363062CDKL5c.1832A>G (p.His611Arg)
c.1781A>G (p.His594Arg)
c.1700A>G (p.His567Arg)
n.2084A>G
 ClinVar
Xg.18604756A>TCA412363044CDKL5c.1832A>T (p.His611Leu)
c.1781A>T (p.His594Leu)
c.1700A>T (p.His567Leu)
n.2084A>T
Xg.18604757T>ACA412363065CDKL5c.1833T>A (p.His611Gln)
c.1782T>A (p.His594Gln)
c.1701T>A (p.His567Gln)
n.2085T>A
Xg.18604757T>CCA515627596CDKL5c.1833T>C (p.His611=)
c.1782T>C (p.His594=)
c.1701T>C (p.His567=)
n.2085T>C
Xg.18604757T>GCA412363068CDKL5c.1833T>G (p.His611Gln)
c.1782T>G (p.His594Gln)
c.1701T>G (p.His567Gln)
n.2085T>G
Xg.18604757_18604758delCA2695231328CDKL5c.1833_1834del (p.Ser612TyrfsTer6)
c.1782_1783del (p.Ser595TyrfsTer6)
c.1701_1702del (p.Ser568TyrfsTer6)
n.2085_2086del
Xg.18604758T>ACA412363085CDKL5c.1834T>A (p.Ser612Thr)
c.1783T>A (p.Ser595Thr)
c.1702T>A (p.Ser568Thr)
n.2086T>A
Xg.18604758T>CCA412363089CDKL5c.1834T>C (p.Ser612Pro)
c.1783T>C (p.Ser595Pro)
c.1702T>C (p.Ser568Pro)
n.2086T>C
Xg.18604758T>GCA412363093CDKL5c.1834T>G (p.Ser612Ala)
c.1783T>G (p.Ser595Ala)
c.1702T>G (p.Ser568Ala)
n.2086T>G
Xg.18604759C>ACA412363099CDKL5c.1835C>A (p.Ser612Tyr)
c.1784C>A (p.Ser595Tyr)
c.1703C>A (p.Ser568Tyr)
n.2087C>A
Xg.18604759C>GCA412363097CDKL5c.1835C>G (p.Ser612Cys)
c.1784C>G (p.Ser595Cys)
c.1703C>G (p.Ser568Cys)
n.2087C>G
Xg.18604759C>TCA412363096CDKL5c.1835C>T (p.Ser612Phe)
c.1784C>T (p.Ser595Phe)
c.1703C>T (p.Ser568Phe)
n.2087C>T
Xg.18604760T>ACA515627598CDKL5c.1836T>A (p.Ser612=)
c.1785T>A (p.Ser595=)
c.1704T>A (p.Ser568=)
n.2088T>A
Xg.18604760T>CCA515627599CDKL5c.1836T>C (p.Ser612=)
c.1785T>C (p.Ser595=)
c.1704T>C (p.Ser568=)
n.2088T>C
Xg.18604760T>GCA515627600CDKL5c.1836T>G (p.Ser612=)
c.1785T>G (p.Ser595=)
c.1704T>G (p.Ser568=)
n.2088T>G
Xg.18604761A>CCA412363104CDKL5c.1837A>C (p.Met613Leu)
c.1786A>C (p.Met596Leu)
c.1705A>C (p.Met569Leu)
n.2089A>C
Xg.18604761A>GCA412363108CDKL5c.1837A>G (p.Met613Val)
c.1786A>G (p.Met596Val)
c.1705A>G (p.Met569Val)
n.2089A>G
 ClinVar
Xg.18604761A>TCA412363121CDKL5c.1837A>T (p.Met613Leu)
c.1786A>T (p.Met596Leu)
c.1705A>T (p.Met569Leu)
n.2089A>T
 gnomAD v4
Xg.18604762T>ACA412363123CDKL5c.1838T>A (p.Met613Lys)
c.1787T>A (p.Met596Lys)
c.1706T>A (p.Met569Lys)
n.2090T>A
Xg.18604762T>CCA412363126CDKL5c.1838T>C (p.Met613Thr)
c.1787T>C (p.Met596Thr)
c.1706T>C (p.Met569Thr)
n.2090T>C
Xg.18604762T>GCA412363128CDKL5c.1838T>G (p.Met613Arg)
c.1787T>G (p.Met596Arg)
c.1706T>G (p.Met569Arg)
n.2090T>G
Xg.18604763G>ACA412363145CDKL5c.1839G>A (p.Met613Ile)
c.1788G>A (p.Met596Ile)
c.1707G>A (p.Met569Ile)
n.2091G>A
Xg.18604763G>CCA412363147CDKL5c.1839G>C (p.Met613Ile)
c.1788G>C (p.Met596Ile)
c.1707G>C (p.Met569Ile)
n.2091G>C
Xg.18604763G>TCA412363146CDKL5c.1839G>T (p.Met613Ile)
c.1788G>T (p.Met596Ile)
c.1707G>T (p.Met569Ile)
n.2091G>T
Xg.18604764T>ACA412363148CDKL5c.1840T>A (p.Tyr614Asn)
c.1789T>A (p.Tyr597Asn)
c.1708T>A (p.Tyr570Asn)
n.2092T>A
Xg.18604764T>CCA412363149CDKL5c.1840T>C (p.Tyr614His)
c.1789T>C (p.Tyr597His)
c.1708T>C (p.Tyr570His)
n.2092T>C
Xg.18604764T>GCA412363151CDKL5c.1840T>G (p.Tyr614Asp)
c.1789T>G (p.Tyr597Asp)
c.1708T>G (p.Tyr570Asp)
n.2092T>G
Xg.18604765A>CCA412363156CDKL5c.1841A>C (p.Tyr614Ser)
c.1790A>C (p.Tyr597Ser)
c.1709A>C (p.Tyr570Ser)
n.2093A>C
Xg.18604765A>GCA412363158CDKL5c.1841A>G (p.Tyr614Cys)
c.1790A>G (p.Tyr597Cys)
c.1709A>G (p.Tyr570Cys)
n.2093A>G
Xg.18604765A>TCA412363161CDKL5c.1841A>T (p.Tyr614Phe)
c.1790A>T (p.Tyr597Phe)
c.1709A>T (p.Tyr570Phe)
n.2093A>T
Xg.18604766T>ACA412363163CDKL5c.1842T>A (p.Tyr614Ter)
c.1791T>A (p.Tyr597Ter)
c.1710T>A (p.Tyr570Ter)
n.2094T>A
Xg.18604766T>CCA515627605CDKL5c.1842T>C (p.Tyr614=)
c.1791T>C (p.Tyr597=)
c.1710T>C (p.Tyr570=)
n.2094T>C
Xg.18604766T>GCA412363165CDKL5c.1842T>G (p.Tyr614Ter)
c.1791T>G (p.Tyr597Ter)
c.1710T>G (p.Tyr570Ter)
n.2094T>G
Xg.18604767G>ACA412363167CDKL5c.1843G>A (p.Val615Met)
c.1792G>A (p.Val598Met)
c.1711G>A (p.Val571Met)
n.2095G>A
Xg.18604767G>CCA412363169CDKL5c.1843G>C (p.Val615Leu)
c.1792G>C (p.Val598Leu)
c.1711G>C (p.Val571Leu)
n.2095G>C
Xg.18604767G>TCA412363186CDKL5c.1843G>T (p.Val615Leu)
c.1792G>T (p.Val598Leu)
c.1711G>T (p.Val571Leu)
n.2095G>T
Xg.18604768T>ACA412363195CDKL5c.1844T>A (p.Val615Glu)
c.1793T>A (p.Val598Glu)
c.1712T>A (p.Val571Glu)
n.2096T>A
Xg.18604768T>CCA412363191CDKL5c.1844T>C (p.Val615Ala)
c.1793T>C (p.Val598Ala)
c.1712T>C (p.Val571Ala)
n.2096T>C
Xg.18604768T>GCA412363188CDKL5c.1844T>G (p.Val615Gly)
c.1793T>G (p.Val598Gly)
c.1712T>G (p.Val571Gly)
n.2096T>G
Xg.18604769G>ACA515627609CDKL5c.1845G>A (p.Val615=)
c.1794G>A (p.Val598=)
c.1713G>A (p.Val571=)
n.2097G>A
Xg.18604769G>CCA515627610CDKL5c.1845G>C (p.Val615=)
c.1794G>C (p.Val598=)
c.1713G>C (p.Val571=)
n.2097G>C
Xg.18604769G>TCA515627611CDKL5c.1845G>T (p.Val615=)
c.1794G>T (p.Val598=)
c.1713G>T (p.Val571=)
n.2097G>T
Xg.18604770A>CCA412363199CDKL5c.1846A>C (p.Thr616Pro)
c.1795A>C (p.Thr599Pro)
c.1714A>C (p.Thr572Pro)
n.2098A>C
Xg.18604770A>GCA412363202CDKL5c.1846A>G (p.Thr616Ala)
c.1795A>G (p.Thr599Ala)
c.1714A>G (p.Thr572Ala)
n.2098A>G
Xg.18604770A>TCA412363200CDKL5c.1846A>T (p.Thr616Ser)
c.1795A>T (p.Thr599Ser)
c.1714A>T (p.Thr572Ser)
n.2098A>T
 gnomAD v4
Xg.18604771C>ACA412363205CDKL5c.1847C>A (p.Thr616Asn)
c.1796C>A (p.Thr599Asn)
c.1715C>A (p.Thr572Asn)
n.2099C>A
Xg.18604771C=CA2417974515CDKL5c.1847C= (p.Thr616=)
c.1796C= (p.Thr599=)
c.1715C= (p.Thr572=)
n.2099C=
Xg.18604771C>GCA412363208CDKL5c.1847C>G (p.Thr616Ser)
c.1796C>G (p.Thr599Ser)
c.1715C>G (p.Thr572Ser)
n.2099C>G
Xg.18604771C>TCA412363214CDKL5c.1847C>T (p.Thr616Ile)
c.1796C>T (p.Thr599Ile)
c.1715C>T (p.Thr572Ile)
n.2099C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18604773delCA2695231330CDKL5c.1849del (p.Arg617ValfsTer4)
c.1798del (p.Arg600ValfsTer4)
c.1717del (p.Arg573ValfsTer4)
n.2101del
Xg.18604772C>ACA515627615CDKL5c.1848C>A (p.Thr616=)
c.1797C>A (p.Thr599=)
c.1716C>A (p.Thr572=)
n.2100C>A
Xg.18604772C>GCA515627614CDKL5c.1848C>G (p.Thr616=)
c.1797C>G (p.Thr599=)
c.1716C>G (p.Thr572=)
n.2100C>G
Xg.18604772C>TCA515627613CDKL5c.1848C>T (p.Thr616=)
c.1797C>T (p.Thr599=)
c.1716C>T (p.Thr572=)
n.2100C>T
Xg.18604773C>ACA412363218CDKL5c.1849C>A (p.Arg617Ser)
c.1798C>A (p.Arg600Ser)
c.1717C>A (p.Arg573Ser)
n.2101C>A
Xg.18604773C=CA2417974516CDKL5c.1849C= (p.Arg617=)
c.1798C= (p.Arg600=)
c.1717C= (p.Arg573=)
n.2101C=
Xg.18604773C>GCA412363221CDKL5c.1849C>G (p.Arg617Gly)
c.1798C>G (p.Arg600Gly)
c.1717C>G (p.Arg573Gly)
n.2101C>G
Xg.18604773C>TCA412363225CDKL5c.1849C>T (p.Arg617Cys)
c.1798C>T (p.Arg600Cys)
c.1717C>T (p.Arg573Cys)
n.2101C>T
 dbSNP
Xg.18604774G>ACA412363246CDKL5c.1850G>A (p.Arg617His)
c.1799G>A (p.Arg600His)
c.1718G>A (p.Arg573His)
n.2102G>A
 ClinVar gnomAD v4
Xg.18604774G>CCA412363243CDKL5c.1850G>C (p.Arg617Pro)
c.1799G>C (p.Arg600Pro)
c.1718G>C (p.Arg573Pro)
n.2102G>C
Xg.18604774G>TCA412363228CDKL5c.1850G>T (p.Arg617Leu)
c.1799G>T (p.Arg600Leu)
c.1718G>T (p.Arg573Leu)
n.2102G>T
 ClinVar dbSNP
Xg.18604775T>ACA515627617CDKL5c.1851T>A (p.Arg617=)
c.1800T>A (p.Arg600=)
c.1719T>A (p.Arg573=)
n.2103T>A
Xg.18604775T>CCA515627618CDKL5c.1851T>C (p.Arg617=)
c.1800T>C (p.Arg600=)
c.1719T>C (p.Arg573=)
n.2103T>C
Xg.18604775T>GCA515627619CDKL5c.1851T>G (p.Arg617=)
c.1800T>G (p.Arg600=)
c.1719T>G (p.Arg573=)
n.2103T>G
Xg.18604776G>ACA412363250CDKL5c.1852G>A (p.Asp618Asn)
c.1801G>A (p.Asp601Asn)
c.1720G>A (p.Asp574Asn)
n.2104G>A
Xg.18604776G>CCA412363253CDKL5c.1852G>C (p.Asp618His)
c.1801G>C (p.Asp601His)
c.1720G>C (p.Asp574His)
n.2104G>C
Xg.18604776G=CA2417974517CDKL5c.1852G= (p.Asp618=)
c.1801G= (p.Asp601=)
c.1720G= (p.Asp574=)
n.2104G=
Xg.18604776G>TCA412363255CDKL5c.1852G>T (p.Asp618Tyr)
c.1801G>T (p.Asp601Tyr)
c.1720G>T (p.Asp574Tyr)
n.2104G>T
Xg.18604776_18604777insTCA916083844CDKL5c.1852_1853insT (p.Asp618ValfsTer21)
c.1801_1802insT (p.Asp601ValfsTer21)
c.1720_1721insT (p.Asp574ValfsTer21)
n.2104_2105insT
 ClinVar dbSNP
Xg.18604777A>CCA412363262CDKL5c.1853A>C (p.Asp618Ala)
c.1802A>C (p.Asp601Ala)
c.1721A>C (p.Asp574Ala)
n.2105A>C
Xg.18604777A>GCA412363265CDKL5c.1853A>G (p.Asp618Gly)
c.1802A>G (p.Asp601Gly)
c.1721A>G (p.Asp574Gly)
n.2105A>G
Xg.18604777A>TCA412363267CDKL5c.1853A>T (p.Asp618Val)
c.1802A>T (p.Asp601Val)
c.1721A>T (p.Asp574Val)
n.2105A>T
Xg.18604777_18604778delinsACCA2417974518CDKL5c.1853_1854delinsAC (p.Asp618=)
c.1802_1803delinsAC (p.Asp601=)
c.1721_1722delinsAC (p.Asp574=)
n.2105_2106delinsAC
Xg.18604778delCA199384CDKL5c.1854del (p.Asp618GlufsTer3)
c.1803del (p.Asp601GlufsTer3)
c.1722del (p.Asp574GlufsTer3)
n.2106del
 ClinVar dbSNP
Xg.18604778C>ACA412363273CDKL5c.1854C>A (p.Asp618Glu)
c.1803C>A (p.Asp601Glu)
c.1722C>A (p.Asp574Glu)
n.2106C>A
Xg.18604778C>GCA412363276CDKL5c.1854C>G (p.Asp618Glu)
c.1803C>G (p.Asp601Glu)
c.1722C>G (p.Asp574Glu)
n.2106C>G
Xg.18604778C>TCA515627621CDKL5c.1854C>T (p.Asp618=)
c.1803C>T (p.Asp601=)
c.1722C>T (p.Asp574=)
n.2106C>T
Xg.18604779A>CCA412363280CDKL5c.1855A>C (p.Lys619Gln)
c.1804A>C (p.Lys602Gln)
c.1723A>C (p.Lys575Gln)
n.2107A>C
Xg.18604779A>GCA412363284CDKL5c.1855A>G (p.Lys619Glu)
c.1804A>G (p.Lys602Glu)
c.1723A>G (p.Lys575Glu)
n.2107A>G
Xg.18604779A>TCA412363287CDKL5c.1855A>T (p.Lys619Ter)
c.1804A>T (p.Lys602Ter)
c.1723A>T (p.Lys575Ter)
n.2107A>T
Xg.18604780A=CA2417974519CDKL5c.1856A= (p.Lys619=)
c.1805A= (p.Lys602=)
c.1724A= (p.Lys575=)
n.2108A=
Xg.18604780A>CCA412363291CDKL5c.1856A>C (p.Lys619Thr)
c.1805A>C (p.Lys602Thr)
c.1724A>C (p.Lys575Thr)
n.2108A>C
Xg.18604780A>GCA412363294CDKL5c.1856A>G (p.Lys619Arg)
c.1805A>G (p.Lys602Arg)
c.1724A>G (p.Lys575Arg)
n.2108A>G
 ClinVar dbSNP
Xg.18604780A>TCA412363298CDKL5c.1856A>T (p.Lys619Ile)
c.1805A>T (p.Lys602Ile)
c.1724A>T (p.Lys575Ile)
n.2108A>T
Xg.18604781A>CCA412363305CDKL5c.1857A>C (p.Lys619Asn)
c.1806A>C (p.Lys602Asn)
c.1725A>C (p.Lys575Asn)
n.2109A>C
Xg.18604781A>GCA515627624CDKL5c.1857A>G (p.Lys619=)
c.1806A>G (p.Lys602=)
c.1725A>G (p.Lys575=)
n.2109A>G
Xg.18604781A>TCA412363308CDKL5c.1857A>T (p.Lys619Asn)
c.1806A>T (p.Lys602Asn)
c.1725A>T (p.Lys575Asn)
n.2109A>T
Xg.18604782G>ACA326987934CDKL5c.1858G>A (p.Val620Met)
c.1807G>A (p.Val603Met)
c.1726G>A (p.Val576Met)
n.2110G>A
 dbSNP
Xg.18604782G>CCA326987931CDKL5c.1858G>C (p.Val620Leu)
c.1807G>C (p.Val603Leu)
c.1726G>C (p.Val576Leu)
n.2110G>C
 dbSNP
Xg.18604782G=CA2417974520CDKL5c.1858G= (p.Val620=)
c.1807G= (p.Val603=)
c.1726G= (p.Val576=)
n.2110G=
Xg.18604782G>TCA412363320CDKL5c.1858G>T (p.Val620Leu)
c.1807G>T (p.Val603Leu)
c.1726G>T (p.Val576Leu)
n.2110G>T
Xg.18604783T>ACA412363327CDKL5c.1859T>A (p.Val620Glu)
c.1808T>A (p.Val603Glu)
c.1727T>A (p.Val576Glu)
n.2111T>A
Xg.18604783T>CCA412363331CDKL5c.1859T>C (p.Val620Ala)
c.1808T>C (p.Val603Ala)
c.1727T>C (p.Val576Ala)
n.2111T>C
Xg.18604783T>GCA412363329CDKL5c.1859T>G (p.Val620Gly)
c.1808T>G (p.Val603Gly)
c.1727T>G (p.Val576Gly)
n.2111T>G
Xg.18604784G>ACA515627627CDKL5c.1860G>A (p.Val620=)
c.1809G>A (p.Val603=)
c.1728G>A (p.Val576=)
n.2112G>A
Xg.18604784G>CCA515627628CDKL5c.1860G>C (p.Val620=)
c.1809G>C (p.Val603=)
c.1728G>C (p.Val576=)
n.2112G>C
Xg.18604784G>TCA515627629CDKL5c.1860G>T (p.Val620=)
c.1809G>T (p.Val603=)
c.1728G>T (p.Val576=)
n.2112G>T
Xg.18604786_18604801delCA2695231331CDKL5c.1862_1877del (p.Arg621MetfsTer4)
c.1811_1826del (p.Arg604MetfsTer4)
c.1730_1745del (p.Arg577MetfsTer4)
n.2114_2129del
Xg.18604785A>CCA515627630CDKL5c.1861A>C (p.Arg621=)
c.1810A>C (p.Arg604=)
c.1729A>C (p.Arg577=)
n.2113A>C
Xg.18604785A>GCA412363333CDKL5c.1861A>G (p.Arg621Gly)
c.1810A>G (p.Arg604Gly)
c.1729A>G (p.Arg577Gly)
n.2113A>G
Xg.18604785A>TCA412363335CDKL5c.1861A>T (p.Arg621Ter)
c.1810A>T (p.Arg604Ter)
c.1729A>T (p.Arg577Ter)
n.2113A>T
Xg.18604786G>ACA412363339CDKL5c.1862G>A (p.Arg621Lys)
c.1811G>A (p.Arg604Lys)
c.1730G>A (p.Arg577Lys)
n.2114G>A
 gnomAD v4
Xg.18604786G>CCA412363345CDKL5c.1862G>C (p.Arg621Thr)
c.1811G>C (p.Arg604Thr)
c.1730G>C (p.Arg577Thr)
n.2114G>C
Xg.18604786G>TCA412363348CDKL5c.1862G>T (p.Arg621Ile)
c.1811G>T (p.Arg604Ile)
c.1730G>T (p.Arg577Ile)
n.2114G>T
Xg.18604787A>CCA412363350CDKL5c.1863A>C (p.Arg621Ser)
c.1812A>C (p.Arg604Ser)
c.1731A>C (p.Arg577Ser)
n.2115A>C
Xg.18604787A>GCA515627632CDKL5c.1863A>G (p.Arg621=)
c.1812A>G (p.Arg604=)
c.1731A>G (p.Arg577=)
n.2115A>G
Xg.18604787A>TCA412363354CDKL5c.1863A>T (p.Arg621Ser)
c.1812A>T (p.Arg604Ser)
c.1731A>T (p.Arg577Ser)
n.2115A>T
Xg.18604788G>ACA412363357CDKL5c.1864G>A (p.Ala622Thr)
c.1813G>A (p.Ala605Thr)
c.1732G>A (p.Ala578Thr)
n.2116G>A
Xg.18604788G>CCA412363359CDKL5c.1864G>C (p.Ala622Pro)
c.1813G>C (p.Ala605Pro)
c.1732G>C (p.Ala578Pro)
n.2116G>C
Xg.18604788G>TCA412363365CDKL5c.1864G>T (p.Ala622Ser)
c.1813G>T (p.Ala605Ser)
c.1732G>T (p.Ala578Ser)
n.2116G>T
Xg.18604789C>ACA412363376CDKL5c.1865C>A (p.Ala622Asp)
c.1814C>A (p.Ala605Asp)
c.1733C>A (p.Ala578Asp)
n.2117C>A
Xg.18604789C>GCA412363378CDKL5c.1865C>G (p.Ala622Gly)
c.1814C>G (p.Ala605Gly)
c.1733C>G (p.Ala578Gly)
n.2117C>G
Xg.18604789C>TCA412363381CDKL5c.1865C>T (p.Ala622Val)
c.1814C>T (p.Ala605Val)
c.1733C>T (p.Ala578Val)
n.2117C>T
 COSMIC
Xg.18604790C>ACA515627639CDKL5c.1866C>A (p.Ala622=)
c.1815C>A (p.Ala605=)
c.1734C>A (p.Ala578=)
n.2118C>A
Xg.18604790C=CA2417974521CDKL5c.1866C= (p.Ala622=)
c.1815C= (p.Ala605=)
c.1734C= (p.Ala578=)
n.2118C=
Xg.18604790C>GCA515627641CDKL5c.1866C>G (p.Ala622=)
c.1815C>G (p.Ala605=)
c.1734C>G (p.Ala578=)
n.2118C>G
Xg.18604790C>TCA515627642CDKL5c.1866C>T (p.Ala622=)
c.1815C>T (p.Ala605=)
c.1734C>T (p.Ala578=)
n.2118C>T
 ClinVar dbSNP gnomAD v4
Xg.18604791A>CCA412363396CDKL5c.1867A>C (p.Lys623Gln)
c.1816A>C (p.Lys606Gln)
c.1735A>C (p.Lys579Gln)
n.2119A>C
Xg.18604791A>GCA412363407CDKL5c.1867A>G (p.Lys623Glu)
c.1816A>G (p.Lys606Glu)
c.1735A>G (p.Lys579Glu)
n.2119A>G
Xg.18604791A>TCA412363400CDKL5c.1867A>T (p.Lys623Ter)
c.1816A>T (p.Lys606Ter)
c.1735A>T (p.Lys579Ter)
n.2119A>T
Xg.18604792A>CCA412363412CDKL5c.1868A>C (p.Lys623Thr)
c.1817A>C (p.Lys606Thr)
c.1736A>C (p.Lys579Thr)
n.2120A>C
Xg.18604792A>GCA412363415CDKL5c.1868A>G (p.Lys623Arg)
c.1817A>G (p.Lys606Arg)
c.1736A>G (p.Lys579Arg)
n.2120A>G
Xg.18604792A>TCA412363422CDKL5c.1868A>T (p.Lys623Met)
c.1817A>T (p.Lys606Met)
c.1736A>T (p.Lys579Met)
n.2120A>T
Xg.18604793G>ACA515627643CDKL5c.1869G>A (p.Lys623=)
c.1818G>A (p.Lys606=)
c.1737G>A (p.Lys579=)
n.2121G>A
Xg.18604793G>CCA10360425CDKL5c.1869G>C (p.Lys623Asn)
c.1818G>C (p.Lys606Asn)
c.1737G>C (p.Lys579Asn)
n.2121G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604793G=CA2417974522CDKL5c.1869G= (p.Lys623=)
c.1818G= (p.Lys606=)
c.1737G= (p.Lys579=)
n.2121G=
Xg.18604793G>TCA412363427CDKL5c.1869G>T (p.Lys623Asn)
c.1818G>T (p.Lys606Asn)
c.1737G>T (p.Lys579Asn)
n.2121G>T
 COSMIC
Xg.18604794G>ACA412363433CDKL5c.1870G>A (p.Gly624Ser)
c.1819G>A (p.Gly607Ser)
c.1738G>A (p.Gly580Ser)
n.2122G>A
Xg.18604794G>CCA412363434CDKL5c.1870G>C (p.Gly624Arg)
c.1819G>C (p.Gly607Arg)
c.1738G>C (p.Gly580Arg)
n.2122G>C
Xg.18604794G>TCA412363435CDKL5c.1870G>T (p.Gly624Cys)
c.1819G>T (p.Gly607Cys)
c.1738G>T (p.Gly580Cys)
n.2122G>T
Xg.18604795G>ACA412363436CDKL5c.1871G>A (p.Gly624Asp)
c.1820G>A (p.Gly607Asp)
c.1739G>A (p.Gly580Asp)
n.2123G>A
 COSMIC
Xg.18604795G>CCA412363437CDKL5c.1871G>C (p.Gly624Ala)
c.1820G>C (p.Gly607Ala)
c.1739G>C (p.Gly580Ala)
n.2123G>C
Xg.18604795G>TCA412363438CDKL5c.1871G>T (p.Gly624Val)
c.1820G>T (p.Gly607Val)
c.1739G>T (p.Gly580Val)
n.2123G>T
Xg.18604796C>ACA515627646CDKL5c.1872C>A (p.Gly624=)
c.1821C>A (p.Gly607=)
c.1740C>A (p.Gly580=)
n.2124C>A
Xg.18604796C>GCA515627647CDKL5c.1872C>G (p.Gly624=)
c.1821C>G (p.Gly607=)
c.1740C>G (p.Gly580=)
n.2124C>G
Xg.18604796C>TCA515627648CDKL5c.1872C>T (p.Gly624=)
c.1821C>T (p.Gly607=)
c.1740C>T (p.Gly580=)
n.2124C>T
Xg.18604797T>ACA412363446CDKL5c.1873T>A (p.Leu625Met)
c.1822T>A (p.Leu608Met)
c.1741T>A (p.Leu581Met)
n.2125T>A
Xg.18604797T>CCA515627649CDKL5c.1873T>C (p.Leu625=)
c.1822T>C (p.Leu608=)
c.1741T>C (p.Leu581=)
n.2125T>C
Xg.18604797T>GCA412363443CDKL5c.1873T>G (p.Leu625Val)
c.1822T>G (p.Leu608Val)
c.1741T>G (p.Leu581Val)
n.2125T>G
Xg.18604798T>ACA412363451CDKL5c.1874T>A (p.Leu625Ter)
c.1823T>A (p.Leu608Ter)
c.1742T>A (p.Leu581Ter)
n.2126T>A
Xg.18604798T>CCA412363467CDKL5c.1874T>C (p.Leu625Ser)
c.1823T>C (p.Leu608Ser)
c.1742T>C (p.Leu581Ser)
n.2126T>C
Xg.18604798T>GCA412363481CDKL5c.1874T>G (p.Leu625Trp)
c.1823T>G (p.Leu608Trp)
c.1742T>G (p.Leu581Trp)
n.2126T>G
 ClinVar
Xg.18604799G>ACA515627652CDKL5c.1875G>A (p.Leu625=)
c.1824G>A (p.Leu608=)
c.1743G>A (p.Leu581=)
n.2127G>A
Xg.18604799G>CCA412363488CDKL5c.1875G>C (p.Leu625Phe)
c.1824G>C (p.Leu608Phe)
c.1743G>C (p.Leu581Phe)
n.2127G>C
Xg.18604799G>TCA412363497CDKL5c.1875G>T (p.Leu625Phe)
c.1824G>T (p.Leu608Phe)
c.1743G>T (p.Leu581Phe)
n.2127G>T

Number of alleles fetched