Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
Xg.18604800G>ACA412363498CDKL5c.1876G>A (p.Asp626Asn)
c.1825G>A (p.Asp609Asn)
c.1744G>A (p.Asp582Asn)
n.2128G>A
Xg.18604800G>CCA412363499CDKL5c.1876G>C (p.Asp626His)
c.1825G>C (p.Asp609His)
c.1744G>C (p.Asp582His)
n.2128G>C
Xg.18604800G>TCA412363500CDKL5c.1876G>T (p.Asp626Tyr)
c.1825G>T (p.Asp609Tyr)
c.1744G>T (p.Asp582Tyr)
n.2128G>T
 COSMIC
Xg.18604801A>CCA412363503CDKL5c.1877A>C (p.Asp626Ala)
c.1826A>C (p.Asp609Ala)
c.1745A>C (p.Asp582Ala)
n.2129A>C
Xg.18604801A>GCA412363515CDKL5c.1877A>G (p.Asp626Gly)
c.1826A>G (p.Asp609Gly)
c.1745A>G (p.Asp582Gly)
n.2129A>G
Xg.18604801A>TCA412363518CDKL5c.1877A>T (p.Asp626Val)
c.1826A>T (p.Asp609Val)
c.1745A>T (p.Asp582Val)
n.2129A>T
Xg.18604802T>ACA412363527CDKL5c.1878T>A (p.Asp626Glu)
c.1827T>A (p.Asp609Glu)
c.1746T>A (p.Asp582Glu)
n.2130T>A
 gnomAD v4
Xg.18604802T>CCA515627658CDKL5c.1878T>C (p.Asp626=)
c.1827T>C (p.Asp609=)
c.1746T>C (p.Asp582=)
n.2130T>C
Xg.18604802T>GCA412363545CDKL5c.1878T>G (p.Asp626Glu)
c.1827T>G (p.Asp609Glu)
c.1746T>G (p.Asp582Glu)
n.2130T>G
Xg.18604802_18604803insTTTCA2693222736CDKL5c.1878_1879insTTT (p.Asp626_Gly627insPhe)
c.1827_1828insTTT (p.Asp609_Gly610insPhe)
c.1746_1747insTTT (p.Asp582_Gly583insPhe)
n.2130_2131insTTT
 gnomAD v4
Xg.18604803G>ACA412363575CDKL5c.1879G>A (p.Gly627Arg)
c.1828G>A (p.Gly610Arg)
c.1747G>A (p.Gly583Arg)
n.2131G>A
Xg.18604803G>CCA412363571CDKL5c.1879G>C (p.Gly627Arg)
c.1828G>C (p.Gly610Arg)
c.1747G>C (p.Gly583Arg)
n.2131G>C
Xg.18604803G>TCA412363550CDKL5c.1879G>T (p.Gly627Ter)
c.1828G>T (p.Gly610Ter)
c.1747G>T (p.Gly583Ter)
n.2131G>T
Xg.18604804G>ACA412363580CDKL5c.1880G>A (p.Gly627Glu)
c.1829G>A (p.Gly610Glu)
c.1748G>A (p.Gly583Glu)
n.2132G>A
Xg.18604804G>CCA412363584CDKL5c.1880G>C (p.Gly627Ala)
c.1829G>C (p.Gly610Ala)
c.1748G>C (p.Gly583Ala)
n.2132G>C
Xg.18604804G>TCA412363587CDKL5c.1880G>T (p.Gly627Val)
c.1829G>T (p.Gly610Val)
c.1748G>T (p.Gly583Val)
n.2132G>T
Xg.18604805A>CCA515627659CDKL5c.1881A>C (p.Gly627=)
c.1830A>C (p.Gly610=)
c.1749A>C (p.Gly583=)
n.2133A>C
Xg.18604805A>GCA515627661CDKL5c.1881A>G (p.Gly627=)
c.1830A>G (p.Gly610=)
c.1749A>G (p.Gly583=)
n.2133A>G
Xg.18604805A>TCA515627662CDKL5c.1881A>T (p.Gly627=)
c.1830A>T (p.Gly610=)
c.1749A>T (p.Gly583=)
n.2133A>T
Xg.18604806A>CCA412363594CDKL5c.1882A>C (p.Ser628Arg)
c.1831A>C (p.Ser611Arg)
c.1750A>C (p.Ser584Arg)
n.2134A>C
Xg.18604806A>GCA412363596CDKL5c.1882A>G (p.Ser628Gly)
c.1831A>G (p.Ser611Gly)
c.1750A>G (p.Ser584Gly)
n.2134A>G
Xg.18604806A>TCA412363601CDKL5c.1882A>T (p.Ser628Cys)
c.1831A>T (p.Ser611Cys)
c.1750A>T (p.Ser584Cys)
n.2134A>T
Xg.18604806_18604807delinsAGCA2417974523CDKL5c.1882_1883delinsAG (p.Ser628=)
c.1831_1832delinsAG (p.Ser611=)
c.1750_1751delinsAG (p.Ser584=)
n.2134_2135delinsAG
Xg.18604807delCA916083845CDKL5c.1883del (p.Ser628ThrfsTer2)
c.1832del (p.Ser611ThrfsTer2)
c.1751del (p.Ser584ThrfsTer2)
n.2135del
 ClinVar dbSNP
Xg.18604807G>ACA412363604CDKL5c.1883G>A (p.Ser628Asn)
c.1832G>A (p.Ser611Asn)
c.1751G>A (p.Ser584Asn)
n.2135G>A
 ClinVar dbSNP
Xg.18604807G>CCA412363607CDKL5c.1883G>C (p.Ser628Thr)
c.1832G>C (p.Ser611Thr)
c.1751G>C (p.Ser584Thr)
n.2135G>C
Xg.18604807G>TCA412363611CDKL5c.1883G>T (p.Ser628Ile)
c.1832G>T (p.Ser611Ile)
c.1751G>T (p.Ser584Ile)
n.2135G>T
Xg.18604808C>ACA412363614CDKL5c.1884C>A (p.Ser628Arg)
c.1833C>A (p.Ser611Arg)
c.1752C>A (p.Ser584Arg)
n.2136C>A
Xg.18604808C=CA2417974524CDKL5c.1884C= (p.Ser628=)
c.1833C= (p.Ser611=)
c.1752C= (p.Ser584=)
n.2136C=
Xg.18604808C>GCA412363627CDKL5c.1884C>G (p.Ser628Arg)
c.1833C>G (p.Ser611Arg)
c.1752C>G (p.Ser584Arg)
n.2136C>G
Xg.18604808C>TCA515627665CDKL5c.1884C>T (p.Ser628=)
c.1833C>T (p.Ser611=)
c.1752C>T (p.Ser584=)
n.2136C>T
Xg.18604809T>ACA412363631CDKL5c.1885T>A (p.Leu629Met)
c.1834T>A (p.Leu612Met)
c.1753T>A (p.Leu585Met)
n.2137T>A
Xg.18604809T>CCA515627668CDKL5c.1885T>C (p.Leu629=)
c.1834T>C (p.Leu612=)
c.1753T>C (p.Leu585=)
n.2137T>C
Xg.18604809T>GCA412363633CDKL5c.1885T>G (p.Leu629Val)
c.1834T>G (p.Leu612Val)
c.1753T>G (p.Leu585Val)
n.2137T>G
Xg.18604809_18604810dupCA294683CDKL5c.1885_1886dup (p.Leu629PhefsTer2)
c.1834_1835dup (p.Leu612PhefsTer2)
c.1753_1754dup (p.Leu585PhefsTer2)
n.2137_2138dup
 ClinVar dbSNP
Xg.18604810T>ACA412363640CDKL5c.1886T>A (p.Leu629Ter)
c.1835T>A (p.Leu612Ter)
c.1754T>A (p.Leu585Ter)
n.2138T>A
Xg.18604810T>CCA412363639CDKL5c.1886T>C (p.Leu629Ser)
c.1835T>C (p.Leu612Ser)
c.1754T>C (p.Leu585Ser)
n.2138T>C
Xg.18604810T>GCA412363638CDKL5c.1886T>G (p.Leu629Trp)
c.1835T>G (p.Leu612Trp)
c.1754T>G (p.Leu585Trp)
n.2138T>G
Xg.18604810_18604836delinsTGAGCATAGGGCAAGGGATGGCAGCTACA2417974525CDKL5c.1886_1912delinsTGAGCATAGGGCAAGGGATGGCAGCTA (p.Leu629=)
c.1835_1861delinsTGAGCATAGGGCAAGGGATGGCAGCTA (p.Leu612=)
c.1754_1780delinsTGAGCATAGGGCAAGGGATGGCAGCTA (p.Leu585=)
n.2138_2164delinsTGAGCATAGGGCAAGGGATGGCAGCTA
Xg.18604811G>ACA515627671CDKL5c.1887G>A (p.Leu629=)
c.1836G>A (p.Leu612=)
c.1755G>A (p.Leu585=)
n.2139G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604811G>CCA412363642CDKL5c.1887G>C (p.Leu629Phe)
c.1836G>C (p.Leu612Phe)
c.1755G>C (p.Leu585Phe)
n.2139G>C
Xg.18604811G=CA2417974526CDKL5c.1887G= (p.Leu629=)
c.1836G= (p.Leu612=)
c.1755G= (p.Leu585=)
n.2139G=
Xg.18604811G>TCA412363644CDKL5c.1887G>T (p.Leu629Phe)
c.1836G>T (p.Leu612Phe)
c.1755G>T (p.Leu585Phe)
n.2139G>T
Xg.18604815_18604840delCA200934CDKL5c.1891_1916del (p.Ile631GlnfsTer?)
c.1840_1865del (p.Ile614GlnfsTer?)
c.1759_1784del (p.Ile587GlnfsTer?)
n.2143_2168del
 ClinVar dbSNP
Xg.18604812A=CA2417974527CDKL5c.1888A= (p.Ser630=)
c.1837A= (p.Ser613=)
c.1756A= (p.Ser586=)
n.2140A=
Xg.18604812A>CCA412363648CDKL5c.1888A>C (p.Ser630Arg)
c.1837A>C (p.Ser613Arg)
c.1756A>C (p.Ser586Arg)
n.2140A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604812A>GCA412363649CDKL5c.1888A>G (p.Ser630Gly)
c.1837A>G (p.Ser613Gly)
c.1756A>G (p.Ser586Gly)
n.2140A>G
Xg.18604812A>TCA412363651CDKL5c.1888A>T (p.Ser630Cys)
c.1837A>T (p.Ser613Cys)
c.1756A>T (p.Ser586Cys)
n.2140A>T
Xg.18604813G>ACA412363677CDKL5c.1889G>A (p.Ser630Asn)
c.1838G>A (p.Ser613Asn)
c.1757G>A (p.Ser586Asn)
n.2141G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604813G>CCA412363673CDKL5c.1889G>C (p.Ser630Thr)
c.1838G>C (p.Ser613Thr)
c.1757G>C (p.Ser586Thr)
n.2141G>C
Xg.18604813G=CA2417974528CDKL5c.1889G= (p.Ser630=)
c.1838G= (p.Ser613=)
c.1757G= (p.Ser586=)
n.2141G=
Xg.18604813G>TCA412363654CDKL5c.1889G>T (p.Ser630Ile)
c.1838G>T (p.Ser613Ile)
c.1757G>T (p.Ser586Ile)
n.2141G>T
Xg.18604814C>ACA412363681CDKL5c.1890C>A (p.Ser630Arg)
c.1839C>A (p.Ser613Arg)
c.1758C>A (p.Ser586Arg)
n.2142C>A
Xg.18604814C=CA2417974529CDKL5c.1890C= (p.Ser630=)
c.1839C= (p.Ser613=)
c.1758C= (p.Ser586=)
n.2142C=
Xg.18604814C>GCA412363683CDKL5c.1890C>G (p.Ser630Arg)
c.1839C>G (p.Ser613Arg)
c.1758C>G (p.Ser586Arg)
n.2142C>G
Xg.18604814C>TCA515627677CDKL5c.1890C>T (p.Ser630=)
c.1839C>T (p.Ser613=)
c.1758C>T (p.Ser586=)
n.2142C>T
 ClinVar dbSNP
Xg.18604815A=CA2417974530CDKL5c.1891A= (p.Ile631=)
c.1840A= (p.Ile614=)
c.1759A= (p.Ile587=)
n.2143A=
Xg.18604815A>CCA412363684CDKL5c.1891A>C (p.Ile631Leu)
c.1840A>C (p.Ile614Leu)
c.1759A>C (p.Ile587Leu)
n.2143A>C
Xg.18604815A>GCA412363685CDKL5c.1891A>G (p.Ile631Val)
c.1840A>G (p.Ile614Val)
c.1759A>G (p.Ile587Val)
n.2143A>G
 ClinVar dbSNP gnomAD v4
Xg.18604815A>TCA412363686CDKL5c.1891A>T (p.Ile631Leu)
c.1840A>T (p.Ile614Leu)
c.1759A>T (p.Ile587Leu)
n.2143A>T
Xg.18604816_18604817dupCA170459CDKL5c.1892_1893dup (p.Gly632Ter)
c.1841_1842dup (p.Gly615Ter)
c.1760_1761dup (p.Gly588Ter)
n.2144_2145dup
 ClinVar dbSNP
Xg.18604816T>ACA412363690CDKL5c.1892T>A (p.Ile631Lys)
c.1841T>A (p.Ile614Lys)
c.1760T>A (p.Ile587Lys)
n.2144T>A
Xg.18604816T>CCA170457CDKL5c.1892T>C (p.Ile631Thr)
c.1841T>C (p.Ile614Thr)
c.1760T>C (p.Ile587Thr)
n.2144T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604816T>GCA412363695CDKL5c.1892T>G (p.Ile631Arg)
c.1841T>G (p.Ile614Arg)
c.1760T>G (p.Ile587Arg)
n.2144T>G
Xg.18604816T=CA2417974531CDKL5c.1892T= (p.Ile631=)
c.1841T= (p.Ile614=)
c.1760T= (p.Ile587=)
n.2144T=
Xg.18604817A>CCA515627679CDKL5c.1893A>C (p.Ile631=)
c.1842A>C (p.Ile614=)
c.1761A>C (p.Ile587=)
n.2145A>C
Xg.18604817A>GCA412363709CDKL5c.1893A>G (p.Ile631Met)
c.1842A>G (p.Ile614Met)
c.1761A>G (p.Ile587Met)
n.2145A>G
Xg.18604817A>TCA515627681CDKL5c.1893A>T (p.Ile631=)
c.1842A>T (p.Ile614=)
c.1761A>T (p.Ile587=)
n.2145A>T
Xg.18604818G>ACA412363711CDKL5c.1894G>A (p.Gly632Arg)
c.1843G>A (p.Gly615Arg)
c.1762G>A (p.Gly588Arg)
n.2146G>A
Xg.18604818G>CCA412363717CDKL5c.1894G>C (p.Gly632Arg)
c.1843G>C (p.Gly615Arg)
c.1762G>C (p.Gly588Arg)
n.2146G>C
Xg.18604818G>TCA412363719CDKL5c.1894G>T (p.Gly632Trp)
c.1843G>T (p.Gly615Trp)
c.1762G>T (p.Gly588Trp)
n.2146G>T
Xg.18604820delCA2573158476CDKL5c.1896del (p.Gln633LysfsTer25)
c.1845del (p.Gln616LysfsTer25)
c.1764del (p.Gln589LysfsTer25)
n.2148del
 ClinVar dbSNP
Xg.18604819G>ACA412363730CDKL5c.1895G>A (p.Gly632Glu)
c.1844G>A (p.Gly615Glu)
c.1763G>A (p.Gly588Glu)
n.2147G>A
 ClinVar gnomAD v4
Xg.18604819G>CCA412363735CDKL5c.1895G>C (p.Gly632Ala)
c.1844G>C (p.Gly615Ala)
c.1763G>C (p.Gly588Ala)
n.2147G>C
Xg.18604819G>TCA412363738CDKL5c.1895G>T (p.Gly632Val)
c.1844G>T (p.Gly615Val)
c.1763G>T (p.Gly588Val)
n.2147G>T
Xg.18604820G>ACA515627682CDKL5c.1896G>A (p.Gly632=)
c.1845G>A (p.Gly615=)
c.1764G>A (p.Gly588=)
n.2148G>A
Xg.18604820G>CCA515627684CDKL5c.1896G>C (p.Gly632=)
c.1845G>C (p.Gly615=)
c.1764G>C (p.Gly588=)
n.2148G>C
Xg.18604820G>TCA515627683CDKL5c.1896G>T (p.Gly632=)
c.1845G>T (p.Gly615=)
c.1764G>T (p.Gly588=)
n.2148G>T
Xg.18604821C>ACA412363744CDKL5c.1897C>A (p.Gln633Lys)
c.1846C>A (p.Gln616Lys)
c.1765C>A (p.Gln589Lys)
n.2149C>A
Xg.18604821C=CA2417974532CDKL5c.1897C= (p.Gln633=)
c.1846C= (p.Gln616=)
c.1765C= (p.Gln589=)
n.2149C=
Xg.18604821C>GCA412363745CDKL5c.1897C>G (p.Gln633Glu)
c.1846C>G (p.Gln616Glu)
c.1765C>G (p.Gln589Glu)
n.2149C>G
Xg.18604821C>TCA279167CDKL5c.1897C>T (p.Gln633Ter)
c.1846C>T (p.Gln616Ter)
c.1765C>T (p.Gln589Ter)
n.2149C>T
 ClinVar dbSNP
Xg.18604822A>CCA412363746CDKL5c.1898A>C (p.Gln633Pro)
c.1847A>C (p.Gln616Pro)
c.1766A>C (p.Gln589Pro)
n.2150A>C
Xg.18604822A>GCA412363751CDKL5c.1898A>G (p.Gln633Arg)
c.1847A>G (p.Gln616Arg)
c.1766A>G (p.Gln589Arg)
n.2150A>G
Xg.18604822A>TCA412363748CDKL5c.1898A>T (p.Gln633Leu)
c.1847A>T (p.Gln616Leu)
c.1766A>T (p.Gln589Leu)
n.2150A>T
Xg.18604823A>CCA412363754CDKL5c.1899A>C (p.Gln633His)
c.1848A>C (p.Gln616His)
c.1767A>C (p.Gln589His)
n.2151A>C
Xg.18604823A>GCA515627688CDKL5c.1899A>G (p.Gln633=)
c.1848A>G (p.Gln616=)
c.1767A>G (p.Gln589=)
n.2151A>G
Xg.18604823A>TCA412363756CDKL5c.1899A>T (p.Gln633His)
c.1848A>T (p.Gln616His)
c.1767A>T (p.Gln589His)
n.2151A>T
Xg.18604824G>ACA412363758CDKL5c.1900G>A (p.Gly634Arg)
c.1849G>A (p.Gly617Arg)
c.1768G>A (p.Gly590Arg)
n.2152G>A
Xg.18604824G>CCA412363768CDKL5c.1900G>C (p.Gly634Arg)
c.1849G>C (p.Gly617Arg)
c.1768G>C (p.Gly590Arg)
n.2152G>C
Xg.18604824G>TCA412363771CDKL5c.1900G>T (p.Gly634Trp)
c.1849G>T (p.Gly617Trp)
c.1768G>T (p.Gly590Trp)
n.2152G>T
Xg.18604825G>ACA412363774CDKL5c.1901G>A (p.Gly634Glu)
c.1850G>A (p.Gly617Glu)
c.1769G>A (p.Gly590Glu)
n.2153G>A
Xg.18604825G>CCA326987948CDKL5c.1901G>C (p.Gly634Ala)
c.1850G>C (p.Gly617Ala)
c.1769G>C (p.Gly590Ala)
n.2153G>C
 dbSNP
Xg.18604825G=CA2417974533CDKL5c.1901G= (p.Gly634=)
c.1850G= (p.Gly617=)
c.1769G= (p.Gly590=)
n.2153G=
Xg.18604825G>TCA412363778CDKL5c.1901G>T (p.Gly634Val)
c.1850G>T (p.Gly617Val)
c.1769G>T (p.Gly590Val)
n.2153G>T
Xg.18604826G>ACA515627691CDKL5c.1902G>A (p.Gly634=)
c.1851G>A (p.Gly617=)
c.1770G>A (p.Gly590=)
n.2154G>A
Xg.18604826G>CCA515627693CDKL5c.1902G>C (p.Gly634=)
c.1851G>C (p.Gly617=)
c.1770G>C (p.Gly590=)
n.2154G>C
 gnomAD v4
Xg.18604826G>TCA515627692CDKL5c.1902G>T (p.Gly634=)
c.1851G>T (p.Gly617=)
c.1770G>T (p.Gly590=)
n.2154G>T
Xg.18604827A>CCA412363782CDKL5c.1903A>C (p.Met635Leu)
c.1852A>C (p.Met618Leu)
c.1771A>C (p.Met591Leu)
n.2155A>C
Xg.18604827A>GCA412363804CDKL5c.1903A>G (p.Met635Val)
c.1852A>G (p.Met618Val)
c.1771A>G (p.Met591Val)
n.2155A>G
Xg.18604827A>TCA412363807CDKL5c.1903A>T (p.Met635Leu)
c.1852A>T (p.Met618Leu)
c.1771A>T (p.Met591Leu)
n.2155A>T
Xg.18604828T>ACA412363810CDKL5c.1904T>A (p.Met635Lys)
c.1853T>A (p.Met618Lys)
c.1772T>A (p.Met591Lys)
n.2156T>A
Xg.18604828T>CCA412363813CDKL5c.1904T>C (p.Met635Thr)
c.1853T>C (p.Met618Thr)
c.1772T>C (p.Met591Thr)
n.2156T>C
Xg.18604828T>GCA412363815CDKL5c.1904T>G (p.Met635Arg)
c.1853T>G (p.Met618Arg)
c.1772T>G (p.Met591Arg)
n.2156T>G
Xg.18604829G>ACA412363827CDKL5c.1905G>A (p.Met635Ile)
c.1854G>A (p.Met618Ile)
c.1773G>A (p.Met591Ile)
n.2157G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604829G>CCA412363824CDKL5c.1905G>C (p.Met635Ile)
c.1854G>C (p.Met618Ile)
c.1773G>C (p.Met591Ile)
n.2157G>C
Xg.18604829G=CA2417974534CDKL5c.1905G= (p.Met635=)
c.1854G= (p.Met618=)
c.1773G= (p.Met591=)
n.2157G=
Xg.18604829G>TCA412363818CDKL5c.1905G>T (p.Met635Ile)
c.1854G>T (p.Met618Ile)
c.1773G>T (p.Met591Ile)
n.2157G>T
Xg.18604830delCA2695231334CDKL5c.1906del (p.Ala636GlnfsTer22)
c.1855del (p.Ala619GlnfsTer22)
c.1774del (p.Ala592GlnfsTer22)
n.2158del
Xg.18604830G>ACA412363834CDKL5c.1906G>A (p.Ala636Thr)
c.1855G>A (p.Ala619Thr)
c.1774G>A (p.Ala592Thr)
n.2158G>A
 gnomAD v4
Xg.18604830G>CCA412363848CDKL5c.1906G>C (p.Ala636Pro)
c.1855G>C (p.Ala619Pro)
c.1774G>C (p.Ala592Pro)
n.2158G>C
Xg.18604830G=CA2417974535CDKL5c.1906G= (p.Ala636=)
c.1855G= (p.Ala619=)
c.1774G= (p.Ala592=)
n.2158G=
Xg.18604830G>TCA412363851CDKL5c.1906G>T (p.Ala636Ser)
c.1855G>T (p.Ala619Ser)
c.1774G>T (p.Ala592Ser)
n.2158G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18604831C>ACA10360426CDKL5c.1907C>A (p.Ala636Glu)
c.1856C>A (p.Ala619Glu)
c.1775C>A (p.Ala592Glu)
n.2159C>A
 dbSNP ExAC gnomAD v2
Xg.18604831C=CA2417974536CDKL5c.1907C= (p.Ala636=)
c.1856C= (p.Ala619=)
c.1775C= (p.Ala592=)
n.2159C=
Xg.18604831C>GCA412363853CDKL5c.1907C>G (p.Ala636Gly)
c.1856C>G (p.Ala619Gly)
c.1775C>G (p.Ala592Gly)
n.2159C>G
Xg.18604831C>TCA412363856CDKL5c.1907C>T (p.Ala636Val)
c.1856C>T (p.Ala619Val)
c.1775C>T (p.Ala592Val)
n.2159C>T

Number of alleles fetched