Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18608815delCA2693222851CDKL5c.1949del (p.Gly650GlufsTer8)
c.1898del (p.Gly633GlufsTer8)
c.1817del (p.Gly606GlufsTer8)
n.2201del
 gnomAD v4
Xg.18608815G>ACA10360436CDKL5c.1949G>A (p.Gly650Glu)
c.1898G>A (p.Gly633Glu)
c.1817G>A (p.Gly606Glu)
n.2201G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18608815G>CCA412365749CDKL5c.1949G>C (p.Gly650Ala)
c.1898G>C (p.Gly633Ala)
c.1817G>C (p.Gly606Ala)
n.2201G>C
Xg.18608815G=CA2417975816CDKL5c.1949G= (p.Gly650=)
c.1898G= (p.Gly633=)
c.1817G= (p.Gly606=)
n.2201G=
Xg.18608815G>TCA412365751CDKL5c.1949G>T (p.Gly650Val)
c.1898G>T (p.Gly633Val)
c.1817G>T (p.Gly606Val)
n.2201G>T
Xg.18608816A>CCA515472192CDKL5c.1950A>C (p.Gly650=)
c.1899A>C (p.Gly633=)
c.1818A>C (p.Gly606=)
n.2202A>C
Xg.18608816A>GCA515472190CDKL5c.1950A>G (p.Gly650=)
c.1899A>G (p.Gly633=)
c.1818A>G (p.Gly606=)
n.2202A>G
Xg.18608816A>TCA515472191CDKL5c.1950A>T (p.Gly650=)
c.1899A>T (p.Gly633=)
c.1818A>T (p.Gly606=)
n.2202A>T
Xg.18608817G>ACA412365760CDKL5c.1951G>A (p.Glu651Lys)
c.1900G>A (p.Glu634Lys)
c.1819G>A (p.Glu607Lys)
n.2203G>A
 gnomAD v4
Xg.18608817G>CCA412365757CDKL5c.1951G>C (p.Glu651Gln)
c.1900G>C (p.Glu634Gln)
c.1819G>C (p.Glu607Gln)
n.2203G>C
Xg.18608817G>TCA412365754CDKL5c.1951G>T (p.Glu651Ter)
c.1900G>T (p.Glu634Ter)
c.1819G>T (p.Glu607Ter)
n.2203G>T
Xg.18608818A=CA2417975817CDKL5c.1952A= (p.Glu651=)
c.1901A= (p.Glu634=)
c.1820A= (p.Glu607=)
n.2204A=
Xg.18608818A>CCA412365763CDKL5c.1952A>C (p.Glu651Ala)
c.1901A>C (p.Glu634Ala)
c.1820A>C (p.Glu607Ala)
n.2204A>C
Xg.18608818A>GCA326988779CDKL5c.1952A>G (p.Glu651Gly)
c.1901A>G (p.Glu634Gly)
c.1820A>G (p.Glu607Gly)
n.2204A>G
 dbSNP
Xg.18608818A>TCA412365765CDKL5c.1952A>T (p.Glu651Val)
c.1901A>T (p.Glu634Val)
c.1820A>T (p.Glu607Val)
n.2204A>T
 gnomAD v4
Xg.18608819A>CCA412365770CDKL5c.1953A>C (p.Glu651Asp)
c.1902A>C (p.Glu634Asp)
c.1821A>C (p.Glu607Asp)
n.2205A>C
Xg.18608819A>GCA515472196CDKL5c.1953A>G (p.Glu651=)
c.1902A>G (p.Glu634=)
c.1821A>G (p.Glu607=)
n.2205A>G
Xg.18608819A>TCA412365771CDKL5c.1953A>T (p.Glu651Asp)
c.1902A>T (p.Glu634Asp)
c.1821A>T (p.Glu607Asp)
n.2205A>T
Xg.18608820C>ACA412365775CDKL5c.1954C>A (p.Gln652Lys)
c.1903C>A (p.Gln635Lys)
c.1822C>A (p.Gln608Lys)
n.2206C>A
Xg.18608820C=CA2417975818CDKL5c.1954C= (p.Gln652=)
c.1903C= (p.Gln635=)
c.1822C= (p.Gln608=)
n.2206C=
Xg.18608820C>GCA412365776CDKL5c.1954C>G (p.Gln652Glu)
c.1903C>G (p.Gln635Glu)
c.1822C>G (p.Gln608Glu)
n.2206C>G
Xg.18608820C>TCA171621CDKL5c.1954C>T (p.Gln652Ter)
c.1903C>T (p.Gln635Ter)
c.1822C>T (p.Gln608Ter)
n.2206C>T
 ClinVar dbSNP
Xg.18608821A>CCA412365784CDKL5c.1955A>C (p.Gln652Pro)
c.1904A>C (p.Gln635Pro)
c.1823A>C (p.Gln608Pro)
n.2207A>C
Xg.18608821A>GCA412365782CDKL5c.1955A>G (p.Gln652Arg)
c.1904A>G (p.Gln635Arg)
c.1823A>G (p.Gln608Arg)
n.2207A>G
Xg.18608821A>TCA412365780CDKL5c.1955A>T (p.Gln652Leu)
c.1904A>T (p.Gln635Leu)
c.1823A>T (p.Gln608Leu)
n.2207A>T
Xg.18608822G>ACA10360437CDKL5c.1956G>A (p.Gln652=)
c.1905G>A (p.Gln635=)
c.1824G>A (p.Gln608=)
n.2208G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18608822G>CCA412365788CDKL5c.1956G>C (p.Gln652His)
c.1905G>C (p.Gln635His)
c.1824G>C (p.Gln608His)
n.2208G>C
Xg.18608822G=CA2417975819CDKL5c.1956G= (p.Gln652=)
c.1905G= (p.Gln635=)
c.1824G= (p.Gln608=)
n.2208G=
Xg.18608822G>TCA412365791CDKL5c.1956G>T (p.Gln652His)
c.1905G>T (p.Gln635His)
c.1824G>T (p.Gln608His)
n.2208G>T
Xg.18608823C>ACA412365793CDKL5c.1957C>A (p.Leu653Ile)
c.1906C>A (p.Leu636Ile)
c.1825C>A (p.Leu609Ile)
n.2209C>A
Xg.18608823C>GCA412365795CDKL5c.1957C>G (p.Leu653Val)
c.1906C>G (p.Leu636Val)
c.1825C>G (p.Leu609Val)
n.2209C>G
Xg.18608823C>TCA412365798CDKL5c.1957C>T (p.Leu653Phe)
c.1906C>T (p.Leu636Phe)
c.1825C>T (p.Leu609Phe)
n.2209C>T
Xg.18608824T>ACA412365806CDKL5c.1958T>A (p.Leu653His)
c.1907T>A (p.Leu636His)
c.1826T>A (p.Leu609His)
n.2210T>A
Xg.18608824T>CCA412365801CDKL5c.1958T>C (p.Leu653Pro)
c.1907T>C (p.Leu636Pro)
c.1826T>C (p.Leu609Pro)
n.2210T>C
Xg.18608824T>GCA412365803CDKL5c.1958T>G (p.Leu653Arg)
c.1907T>G (p.Leu636Arg)
c.1826T>G (p.Leu609Arg)
n.2210T>G
Xg.18608825C>ACA515472200CDKL5c.1959C>A (p.Leu653=)
c.1908C>A (p.Leu636=)
c.1827C>A (p.Leu609=)
n.2211C>A
Xg.18608825C>GCA515472201CDKL5c.1959C>G (p.Leu653=)
c.1908C>G (p.Leu636=)
c.1827C>G (p.Leu609=)
n.2211C>G
Xg.18608825C>TCA515472202CDKL5c.1959C>T (p.Leu653=)
c.1908C>T (p.Leu636=)
c.1827C>T (p.Leu609=)
n.2211C>T
 gnomAD v4
Xg.18608827delCA2819900552CDKL5c.1961del (p.Pro654LeufsTer4)
c.1910del (p.Pro637LeufsTer4)
c.1829del (p.Pro610LeufsTer4)
n.2213del
Xg.18608826C>ACA412365809CDKL5c.1960C>A (p.Pro654Thr)
c.1909C>A (p.Pro637Thr)
c.1828C>A (p.Pro610Thr)
n.2212C>A
Xg.18608826C>GCA412365811CDKL5c.1960C>G (p.Pro654Ala)
c.1909C>G (p.Pro637Ala)
c.1828C>G (p.Pro610Ala)
n.2212C>G
Xg.18608826C>TCA412365813CDKL5c.1960C>T (p.Pro654Ser)
c.1909C>T (p.Pro637Ser)
c.1828C>T (p.Pro610Ser)
n.2212C>T
Xg.18608827C>ACA412365827CDKL5c.1961C>A (p.Pro654His)
c.1910C>A (p.Pro637His)
c.1829C>A (p.Pro610His)
n.2213C>A
Xg.18608827C=CA2417975820CDKL5c.1961C= (p.Pro654=)
c.1910C= (p.Pro637=)
c.1829C= (p.Pro610=)
n.2213C=
Xg.18608827C>GCA412365830CDKL5c.1961C>G (p.Pro654Arg)
c.1910C>G (p.Pro637Arg)
c.1829C>G (p.Pro610Arg)
n.2213C>G
Xg.18608827C>TCA412365832CDKL5c.1961C>T (p.Pro654Leu)
c.1910C>T (p.Pro637Leu)
c.1829C>T (p.Pro610Leu)
n.2213C>T
 dbSNP gnomAD v4
Xg.18608828T>ACA515472204CDKL5c.1962T>A (p.Pro654=)
c.1911T>A (p.Pro637=)
c.1830T>A (p.Pro610=)
n.2214T>A
Xg.18608828T>CCA515472206CDKL5c.1962T>C (p.Pro654=)
c.1911T>C (p.Pro637=)
c.1830T>C (p.Pro610=)
n.2214T>C
 gnomAD v4
Xg.18608828T>GCA515472208CDKL5c.1962T>G (p.Pro654=)
c.1911T>G (p.Pro637=)
c.1830T>G (p.Pro610=)
n.2214T>G
Xg.18608829C>ACA412365834CDKL5c.1963C>A (p.Pro655Thr)
c.1912C>A (p.Pro638Thr)
c.1831C>A (p.Pro611Thr)
n.2215C>A
Xg.18608829C=CA2417975821CDKL5c.1963C= (p.Pro655=)
c.1912C= (p.Pro638=)
c.1831C= (p.Pro611=)
n.2215C=
Xg.18608829C>GCA412365838CDKL5c.1963C>G (p.Pro655Ala)
c.1912C>G (p.Pro638Ala)
c.1831C>G (p.Pro611Ala)
n.2215C>G
 dbSNP
Xg.18608829C>TCA412365840CDKL5c.1963C>T (p.Pro655Ser)
c.1912C>T (p.Pro638Ser)
c.1831C>T (p.Pro611Ser)
n.2215C>T
 COSMIC
Xg.18608830delCA2579562960CDKL5c.1964del (p.Pro655GlnfsTer3)
c.1913del (p.Pro638GlnfsTer3)
c.1832del (p.Pro611GlnfsTer3)
n.2216del
Xg.18608830C>ACA412365843CDKL5c.1964C>A (p.Pro655Gln)
c.1913C>A (p.Pro638Gln)
c.1832C>A (p.Pro611Gln)
n.2216C>A
 dbSNP
Xg.18608830C>GCA412365845CDKL5c.1964C>G (p.Pro655Arg)
c.1913C>G (p.Pro638Arg)
c.1832C>G (p.Pro611Arg)
n.2216C>G
 gnomAD v4
Xg.18608830C>TCA412365848CDKL5c.1964C>T (p.Pro655Leu)
c.1913C>T (p.Pro638Leu)
c.1832C>T (p.Pro611Leu)
n.2216C>T
Xg.18608831A>CCA515472213CDKL5c.1965A>C (p.Pro655=)
c.1914A>C (p.Pro638=)
c.1833A>C (p.Pro611=)
n.2217A>C
 gnomAD v4
Xg.18608831A>GCA515472214CDKL5c.1965A>G (p.Pro655=)
c.1914A>G (p.Pro638=)
c.1833A>G (p.Pro611=)
n.2217A>G
Xg.18608831A>TCA515472212CDKL5c.1965A>T (p.Pro655=)
c.1914A>T (p.Pro638=)
c.1833A>T (p.Pro611=)
n.2217A>T
Xg.18608832G>ACA412365851CDKL5c.1966G>A (p.Glu656Lys)
c.1915G>A (p.Glu639Lys)
c.1834G>A (p.Glu612Lys)
n.2218G>A
Xg.18608832G>CCA412365855CDKL5c.1966G>C (p.Glu656Gln)
c.1915G>C (p.Glu639Gln)
c.1834G>C (p.Glu612Gln)
n.2218G>C
 dbSNP gnomAD v2 gnomAD v4
Xg.18608832G=CA2417975822CDKL5c.1966G= (p.Glu656=)
c.1915G= (p.Glu639=)
c.1834G= (p.Glu612=)
n.2218G=
Xg.18608832G>TCA412365852CDKL5c.1966G>T (p.Glu656Ter)
c.1915G>T (p.Glu639Ter)
c.1834G>T (p.Glu612Ter)
n.2218G>T
Xg.18608833A>CCA412365858CDKL5c.1967A>C (p.Glu656Ala)
c.1916A>C (p.Glu639Ala)
c.1835A>C (p.Glu612Ala)
n.2219A>C
Xg.18608833A>GCA412365859CDKL5c.1967A>G (p.Glu656Gly)
c.1916A>G (p.Glu639Gly)
c.1835A>G (p.Glu612Gly)
n.2219A>G
Xg.18608833A>TCA412365863CDKL5c.1967A>T (p.Glu656Val)
c.1916A>T (p.Glu639Val)
c.1835A>T (p.Glu612Val)
n.2219A>T
Xg.18608834G>ACA515472219CDKL5c.1968G>A (p.Glu656=)
c.1917G>A (p.Glu639=)
c.1836G>A (p.Glu612=)
n.2220G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18608834G>CCA412365866CDKL5c.1968G>C (p.Glu656Asp)
c.1917G>C (p.Glu639Asp)
c.1836G>C (p.Glu612Asp)
n.2220G>C
 gnomAD v4
Xg.18608834G=CA2417975823CDKL5c.1968G= (p.Glu656=)
c.1917G= (p.Glu639=)
c.1836G= (p.Glu612=)
n.2220G=
Xg.18608834G>TCA412365868CDKL5c.1968G>T (p.Glu656Asp)
c.1917G>T (p.Glu639Asp)
c.1836G>T (p.Glu612Asp)
n.2220G>T
Xg.18608835A>CCA412365872CDKL5c.1969A>C (p.Met657Leu)
c.1918A>C (p.Met640Leu)
c.1837A>C (p.Met613Leu)
n.2221A>C
Xg.18608835A>GCA412365875CDKL5c.1969A>G (p.Met657Val)
c.1918A>G (p.Met640Val)
c.1837A>G (p.Met613Val)
n.2221A>G
 gnomAD v4
Xg.18608835A>TCA412365876CDKL5c.1969A>T (p.Met657Leu)
c.1918A>T (p.Met640Leu)
c.1837A>T (p.Met613Leu)
n.2221A>T
Xg.18608836T>ACA412365877CDKL5c.1970T>A (p.Met657Lys)
c.1919T>A (p.Met640Lys)
c.1838T>A (p.Met613Lys)
n.2222T>A
Xg.18608836T>CCA412365878CDKL5c.1970T>C (p.Met657Thr)
c.1919T>C (p.Met640Thr)
c.1838T>C (p.Met613Thr)
n.2222T>C
Xg.18608836T>GCA412365879CDKL5c.1970T>G (p.Met657Arg)
c.1919T>G (p.Met640Arg)
c.1838T>G (p.Met613Arg)
n.2222T>G
Xg.18608837G>ACA412365885CDKL5c.1971G>A (p.Met657Ile)
c.1920G>A (p.Met640Ile)
c.1839G>A (p.Met613Ile)
n.2223G>A
 gnomAD v4
Xg.18608837G>CCA412365883CDKL5c.1971G>C (p.Met657Ile)
c.1920G>C (p.Met640Ile)
c.1839G>C (p.Met613Ile)
n.2223G>C
Xg.18608837G>TCA412365882CDKL5c.1971G>T (p.Met657Ile)
c.1920G>T (p.Met640Ile)
c.1839G>T (p.Met613Ile)
n.2223G>T
Xg.18608838A>CCA412365887CDKL5c.1972A>C (p.Thr658Pro)
c.1921A>C (p.Thr641Pro)
c.1840A>C (p.Thr614Pro)
n.2224A>C
Xg.18608838A>GCA412365888CDKL5c.1972A>G (p.Thr658Ala)
c.1921A>G (p.Thr641Ala)
c.1840A>G (p.Thr614Ala)
n.2224A>G
Xg.18608838A>TCA412365890CDKL5c.1972A>T (p.Thr658Ser)
c.1921A>T (p.Thr641Ser)
c.1840A>T (p.Thr614Ser)
n.2224A>T
Xg.18608839C>ACA412365892CDKL5c.1973C>A (p.Thr658Asn)
c.1922C>A (p.Thr641Asn)
c.1841C>A (p.Thr614Asn)
n.2225C>A
Xg.18608839C>GCA412365893CDKL5c.1973C>G (p.Thr658Ser)
c.1922C>G (p.Thr641Ser)
c.1841C>G (p.Thr614Ser)
n.2225C>G
Xg.18608839C>TCA412365895CDKL5c.1973C>T (p.Thr658Ile)
c.1922C>T (p.Thr641Ile)
c.1841C>T (p.Thr614Ile)
n.2225C>T
Xg.18608840T>ACA515472225CDKL5c.1974T>A (p.Thr658=)
c.1923T>A (p.Thr641=)
c.1842T>A (p.Thr614=)
n.2226T>A
Xg.18608840T>CCA515472227CDKL5c.1974T>C (p.Thr658=)
c.1923T>C (p.Thr641=)
c.1842T>C (p.Thr614=)
n.2226T>C
Xg.18608840T>GCA515472230CDKL5c.1974T>G (p.Thr658=)
c.1923T>G (p.Thr641=)
c.1842T>G (p.Thr614=)
n.2226T>G
Xg.18608842_18608843delCA2579562961CDKL5c.1976_1977del (p.Val659GlyfsTer23)
c.1925_1926del (p.Val642GlyfsTer23)
c.1844_1845del (p.Val615GlyfsTer23)
n.2228_2229del
 ClinVar dbSNP
Xg.18608841G>ACA412365897CDKL5c.1975G>A (p.Val659Met)
c.1924G>A (p.Val642Met)
c.1843G>A (p.Val615Met)
n.2227G>A
Xg.18608841G>CCA412365898CDKL5c.1975G>C (p.Val659Leu)
c.1924G>C (p.Val642Leu)
c.1843G>C (p.Val615Leu)
n.2227G>C
Xg.18608841G>TCA412365900CDKL5c.1975G>T (p.Val659Leu)
c.1924G>T (p.Val642Leu)
c.1843G>T (p.Val615Leu)
n.2227G>T
Xg.18608842T>ACA412365902CDKL5c.1976T>A (p.Val659Glu)
c.1925T>A (p.Val642Glu)
c.1844T>A (p.Val615Glu)
n.2228T>A
Xg.18608842T>CCA412365904CDKL5c.1976T>C (p.Val659Ala)
c.1925T>C (p.Val642Ala)
c.1844T>C (p.Val615Ala)
n.2228T>C
Xg.18608842T>GCA412365905CDKL5c.1976T>G (p.Val659Gly)
c.1925T>G (p.Val642Gly)
c.1844T>G (p.Val615Gly)
n.2228T>G
Xg.18608843G>ACA515472234CDKL5c.1977G>A (p.Val659=)
c.1926G>A (p.Val642=)
c.1845G>A (p.Val615=)
n.2229G>A
 gnomAD v4
Xg.18608843G>CCA515472232CDKL5c.1977G>C (p.Val659=)
c.1926G>C (p.Val642=)
c.1845G>C (p.Val615=)
n.2229G>C
Xg.18608843G>TCA515472233CDKL5c.1977G>T (p.Val659=)
c.1926G>T (p.Val642=)
c.1845G>T (p.Val615=)
n.2229G>T
Xg.18608844G>ACA412365911CDKL5c.1978G>A (p.Ala660Thr)
c.1927G>A (p.Ala643Thr)
c.1846G>A (p.Ala616Thr)
n.2230G>A
 COSMIC
Xg.18608844G>CCA412365909CDKL5c.1978G>C (p.Ala660Pro)
c.1927G>C (p.Ala643Pro)
c.1846G>C (p.Ala616Pro)
n.2230G>C
Xg.18608844G>TCA412365907CDKL5c.1978G>T (p.Ala660Ser)
c.1927G>T (p.Ala643Ser)
c.1846G>T (p.Ala616Ser)
n.2230G>T
Xg.18608845C>ACA412365913CDKL5c.1979C>A (p.Ala660Glu)
c.1928C>A (p.Ala643Glu)
c.1847C>A (p.Ala616Glu)
n.2231C>A
 gnomAD v4
Xg.18608845C>GCA412365917CDKL5c.1979C>G (p.Ala660Gly)
c.1928C>G (p.Ala643Gly)
c.1847C>G (p.Ala616Gly)
n.2231C>G
Xg.18608845C>TCA412365915CDKL5c.1979C>T (p.Ala660Val)
c.1928C>T (p.Ala643Val)
c.1847C>T (p.Ala616Val)
n.2231C>T
Xg.18608846A>CCA515472238CDKL5c.1980A>C (p.Ala660=)
c.1929A>C (p.Ala643=)
c.1848A>C (p.Ala616=)
n.2232A>C
Xg.18608846A>GCA515472239CDKL5c.1980A>G (p.Ala660=)
c.1929A>G (p.Ala643=)
c.1848A>G (p.Ala616=)
n.2232A>G
 ClinVar
Xg.18608846A>TCA515472241CDKL5c.1980A>T (p.Ala660=)
c.1929A>T (p.Ala643=)
c.1848A>T (p.Ala616=)
n.2232A>T
Xg.18608847A>CCA515472242CDKL5c.1981A>C (p.Arg661=)
c.1930A>C (p.Arg644=)
c.1849A>C (p.Arg617=)
n.2233A>C
Xg.18608847A>GCA412365919CDKL5c.1981A>G (p.Arg661Gly)
c.1930A>G (p.Arg644Gly)
c.1849A>G (p.Arg617Gly)
n.2233A>G
Xg.18608847A>TCA412365921CDKL5c.1981A>T (p.Arg661Ter)
c.1930A>T (p.Arg644Ter)
c.1849A>T (p.Arg617Ter)
n.2233A>T
Xg.18608848G>ACA412365924CDKL5c.1982G>A (p.Arg661Lys)
c.1931G>A (p.Arg644Lys)
c.1850G>A (p.Arg617Lys)
n.2234G>A
Xg.18608848G>CCA412365925CDKL5c.1982G>C (p.Arg661Thr)
c.1931G>C (p.Arg644Thr)
c.1850G>C (p.Arg617Thr)
n.2234G>C
Xg.18608848G=CA2417975824CDKL5c.1982G= (p.Arg661=)
c.1931G= (p.Arg644=)
c.1850G= (p.Arg617=)
n.2234G=
Xg.18608848G>TCA10360438CDKL5c.1982G>T (p.Arg661Ile)
c.1931G>T (p.Arg644Ile)
c.1850G>T (p.Arg617Ile)
n.2234G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18608849A>CCA412365929CDKL5c.1983A>C (p.Arg661Ser)
c.1932A>C (p.Arg644Ser)
c.1851A>C (p.Arg617Ser)
n.2235A>C
Xg.18608849A>GCA515472246CDKL5c.1983A>G (p.Arg661=)
c.1932A>G (p.Arg644=)
c.1851A>G (p.Arg617=)
n.2235A>G
Xg.18608849A>TCA412365930CDKL5c.1983A>T (p.Arg661Ser)
c.1932A>T (p.Arg644Ser)
c.1851A>T (p.Arg617Ser)
n.2235A>T
Xg.18608850T>ACA412365933CDKL5c.1984T>A (p.Ser662Thr)
c.1933T>A (p.Ser645Thr)
c.1852T>A (p.Ser618Thr)
n.2236T>A
Xg.18608850T>CCA10360439CDKL5c.1984T>C (p.Ser662Pro)
c.1933T>C (p.Ser645Pro)
c.1852T>C (p.Ser618Pro)
n.2236T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18608850T>GCA412365934CDKL5c.1984T>G (p.Ser662Ala)
c.1933T>G (p.Ser645Ala)
c.1852T>G (p.Ser618Ala)
n.2236T>G
Xg.18608850T=CA2417975825CDKL5c.1984T= (p.Ser662=)
c.1933T= (p.Ser645=)
c.1852T= (p.Ser618=)
n.2236T=
Xg.18608851C>ACA412365937CDKL5c.1985C>A (p.Ser662Tyr)
c.1934C>A (p.Ser645Tyr)
c.1853C>A (p.Ser618Tyr)
n.2237C>A
Xg.18608851C>GCA412365938CDKL5c.1985C>G (p.Ser662Cys)
c.1934C>G (p.Ser645Cys)
c.1853C>G (p.Ser618Cys)
n.2237C>G
Xg.18608851C>TCA412365940CDKL5c.1985C>T (p.Ser662Phe)
c.1934C>T (p.Ser645Phe)
c.1853C>T (p.Ser618Phe)
n.2237C>T
 COSMIC
Xg.18608852T>ACA515472250CDKL5c.1986T>A (p.Ser662=)
c.1935T>A (p.Ser645=)
c.1854T>A (p.Ser618=)
n.2238T>A
Xg.18608852T>CCA10360440CDKL5c.1986T>C (p.Ser662=)
c.1935T>C (p.Ser645=)
c.1854T>C (p.Ser618=)
n.2238T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18608852T>GCA515472251CDKL5c.1986T>G (p.Ser662=)
c.1935T>G (p.Ser645=)
c.1854T>G (p.Ser618=)
n.2238T>G
Xg.18608852T=CA2417975826CDKL5c.1986T= (p.Ser662=)
c.1935T= (p.Ser645=)
c.1854T= (p.Ser618=)
n.2238T=
Xg.18608853T>ACA412365943CDKL5c.1987T>A (p.Ser663Thr)
c.1936T>A (p.Ser646Thr)
c.1855T>A (p.Ser619Thr)
n.2239T>A
Xg.18608853T>CCA412365944CDKL5c.1987T>C (p.Ser663Pro)
c.1936T>C (p.Ser646Pro)
c.1855T>C (p.Ser619Pro)
n.2239T>C
Xg.18608853T>GCA412365945CDKL5c.1987T>G (p.Ser663Ala)
c.1936T>G (p.Ser646Ala)
c.1855T>G (p.Ser619Ala)
n.2239T>G
Xg.18608854C>ACA412365947CDKL5c.1988C>A (p.Ser663Ter)
c.1937C>A (p.Ser646Ter)
c.1856C>A (p.Ser619Ter)
n.2240C>A
Xg.18608854C=CA2417975827CDKL5c.1988C= (p.Ser663=)
c.1937C= (p.Ser646=)
c.1856C= (p.Ser619=)
n.2240C=
Xg.18608854C>GCA412365948CDKL5c.1988C>G (p.Ser663Trp)
c.1937C>G (p.Ser646Trp)
c.1856C>G (p.Ser619Trp)
n.2240C>G
Xg.18608854C>TCA412365949CDKL5c.1988C>T (p.Ser663Leu)
c.1937C>T (p.Ser646Leu)
c.1856C>T (p.Ser619Leu)
n.2240C>T
 dbSNP gnomAD v4 COSMIC
Xg.18608855G>ACA515472256CDKL5c.1989G>A (p.Ser663=)
c.1938G>A (p.Ser646=)
c.1857G>A (p.Ser619=)
n.2241G>A
 ClinVar dbSNP gnomAD v4
Xg.18608855G>CCA515472259CDKL5c.1989G>C (p.Ser663=)
c.1938G>C (p.Ser646=)
c.1857G>C (p.Ser619=)
n.2241G>C
Xg.18608855G=CA2417975828CDKL5c.1989G= (p.Ser663=)
c.1938G= (p.Ser646=)
c.1857G= (p.Ser619=)
n.2241G=
Xg.18608855G>TCA515472261CDKL5c.1989G>T (p.Ser663=)
c.1938G>T (p.Ser646=)
c.1857G>T (p.Ser619=)
n.2241G>T
Xg.18608856G>ACA412365951CDKL5c.1990G>A (p.Val664Ile)
c.1939G>A (p.Val647Ile)
c.1858G>A (p.Val620Ile)
n.2242G>A
Xg.18608856G>CCA412365952CDKL5c.1990G>C (p.Val664Leu)
c.1939G>C (p.Val647Leu)
c.1858G>C (p.Val620Leu)
n.2242G>C
Xg.18608856G>TCA412365954CDKL5c.1990G>T (p.Val664Phe)
c.1939G>T (p.Val647Phe)
c.1858G>T (p.Val620Phe)
n.2242G>T
Xg.18608857T>ACA412365956CDKL5c.1991T>A (p.Val664Asp)
c.1940T>A (p.Val647Asp)
c.1859T>A (p.Val620Asp)
n.2243T>A
Xg.18608857T>CCA412365958CDKL5c.1991T>C (p.Val664Ala)
c.1940T>C (p.Val647Ala)
c.1859T>C (p.Val620Ala)
n.2243T>C
Xg.18608857T>GCA412365960CDKL5c.1991T>G (p.Val664Gly)
c.1940T>G (p.Val647Gly)
c.1859T>G (p.Val620Gly)
n.2243T>G
Xg.18608858C>ACA515472272CDKL5c.1992C>A (p.Val664=)
c.1941C>A (p.Val647=)
c.1860C>A (p.Val620=)
n.2244C>A
 gnomAD v4
Xg.18608858C>GCA515472269CDKL5c.1992C>G (p.Val664=)
c.1941C>G (p.Val647=)
c.1860C>G (p.Val620=)
n.2244C>G
Xg.18608858C>TCA515472271CDKL5c.1992C>T (p.Val664=)
c.1941C>T (p.Val647=)
c.1860C>T (p.Val620=)
n.2244C>T
Xg.18608859A>CCA412365964CDKL5c.1993A>C (p.Lys665Gln)
c.1942A>C (p.Lys648Gln)
c.1861A>C (p.Lys621Gln)
n.2245A>C
Xg.18608859A>GCA412365963CDKL5c.1993A>G (p.Lys665Glu)
c.1942A>G (p.Lys648Glu)
c.1861A>G (p.Lys621Glu)
n.2245A>G
Xg.18608859A>TCA412365962CDKL5c.1993A>T (p.Lys665Ter)
c.1942A>T (p.Lys648Ter)
c.1861A>T (p.Lys621Ter)
n.2245A>T
Xg.18608860_18608861delCA2580100492CDKL5c.1994_1995del (p.Lys665ArgfsTer17)
c.1943_1944del (p.Lys648ArgfsTer17)
c.1862_1863del (p.Lys621ArgfsTer17)
n.2246_2247del
 ClinVar
Xg.18608860_18608863delCA2582342895CDKL5c.1994_1997del (p.Lys665ArgfsTer?)
c.1943_1946del (p.Lys648ArgfsTer?)
c.1862_1865del (p.Lys621ArgfsTer?)
n.2246_2249del
 ClinVar
Xg.18608860A>CCA412365965CDKL5c.1994A>C (p.Lys665Thr)
c.1943A>C (p.Lys648Thr)
c.1862A>C (p.Lys621Thr)
n.2246A>C
Xg.18608860A>GCA412365966CDKL5c.1994A>G (p.Lys665Arg)
c.1943A>G (p.Lys648Arg)
c.1862A>G (p.Lys621Arg)
n.2246A>G
Xg.18608860A>TCA412365967CDKL5c.1994A>T (p.Lys665Ile)
c.1943A>T (p.Lys648Ile)
c.1862A>T (p.Lys621Ile)
n.2246A>T
Xg.18608861A=CA2417975829CDKL5c.1995A= (p.Lys665=)
c.1944A= (p.Lys648=)
c.1863A= (p.Lys621=)
n.2247A=
Xg.18608861A>CCA412365969CDKL5c.1995A>C (p.Lys665Asn)
c.1944A>C (p.Lys648Asn)
c.1863A>C (p.Lys621Asn)
n.2247A>C
Xg.18608861A>GCA515472274CDKL5c.1995A>G (p.Lys665=)
c.1944A>G (p.Lys648=)
c.1863A>G (p.Lys621=)
n.2247A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18608861A>TCA412365970CDKL5c.1995A>T (p.Lys665Asn)
c.1944A>T (p.Lys648Asn)
c.1863A>T (p.Lys621Asn)
n.2247A>T
Xg.18608862G>ACA412365972CDKL5c.1996G>A (p.Glu666Lys)
c.1945G>A (p.Glu649Lys)
c.1864G>A (p.Glu622Lys)
n.2248G>A
Xg.18608862G>CCA412365974CDKL5c.1996G>C (p.Glu666Gln)
c.1945G>C (p.Glu649Gln)
c.1864G>C (p.Glu622Gln)
n.2248G>C
 COSMIC
Xg.18608862G>TCA412365976CDKL5c.1996G>T (p.Glu666Ter)
c.1945G>T (p.Glu649Ter)
c.1864G>T (p.Glu622Ter)
n.2248G>T
Xg.18608863A>CCA412365977CDKL5c.1997A>C (p.Glu666Ala)
c.1946A>C (p.Glu649Ala)
c.1865A>C (p.Glu622Ala)
n.2249A>C
 gnomAD v4
Xg.18608863A>GCA412365978CDKL5c.1997A>G (p.Glu666Gly)
c.1946A>G (p.Glu649Gly)
c.1865A>G (p.Glu622Gly)
n.2249A>G
Xg.18608863A>TCA412365980CDKL5c.1997A>T (p.Glu666Val)
c.1946A>T (p.Glu649Val)
c.1865A>T (p.Glu622Val)
n.2249A>T
Xg.18608864G>ACA515472275CDKL5c.1998G>A (p.Glu666=)
c.1947G>A (p.Glu649=)
c.1866G>A (p.Glu622=)
n.2250G>A
Xg.18608864G>CCA412365982CDKL5c.1998G>C (p.Glu666Asp)
c.1947G>C (p.Glu649Asp)
c.1866G>C (p.Glu622Asp)
n.2250G>C
Xg.18608864G>TCA412365983CDKL5c.1998G>T (p.Glu666Asp)
c.1947G>T (p.Glu649Asp)
c.1866G>T (p.Glu622Asp)
n.2250G>T
Xg.18608865A>CCA412365988CDKL5c.1999A>C (p.Thr667Pro)
c.1948A>C (p.Thr650Pro)
c.1867A>C (p.Thr623Pro)
n.2251A>C
Xg.18608865A>GCA412365985CDKL5c.1999A>G (p.Thr667Ala)
c.1948A>G (p.Thr650Ala)
c.1867A>G (p.Thr623Ala)
n.2251A>G
Xg.18608865A>TCA412365987CDKL5c.1999A>T (p.Thr667Ser)
c.1948A>T (p.Thr650Ser)
c.1867A>T (p.Thr623Ser)
n.2251A>T
Xg.18608866C>ACA412365990CDKL5c.2000C>A (p.Thr667Asn)
c.1949C>A (p.Thr650Asn)
c.1868C>A (p.Thr623Asn)
n.2252C>A
Xg.18608866C>GCA412365992CDKL5c.2000C>G (p.Thr667Ser)
c.1949C>G (p.Thr650Ser)
c.1868C>G (p.Thr623Ser)
n.2252C>G
Xg.18608866C>TCA412365994CDKL5c.2000C>T (p.Thr667Ile)
c.1949C>T (p.Thr650Ile)
c.1868C>T (p.Thr623Ile)
n.2252C>T
Xg.18608867C>ACA515472276CDKL5c.2001C>A (p.Thr667=)
c.1950C>A (p.Thr650=)
c.1869C>A (p.Thr623=)
n.2253C>A
Xg.18608867C>GCA515472277CDKL5c.2001C>G (p.Thr667=)
c.1950C>G (p.Thr650=)
c.1869C>G (p.Thr623=)
n.2253C>G
Xg.18608867C>TCA515472279CDKL5c.2001C>T (p.Thr667=)
c.1950C>T (p.Thr650=)
c.1869C>T (p.Thr623=)
n.2253C>T
Xg.18608868T>ACA412365995CDKL5c.2002T>A (p.Ser668Thr)
c.1951T>A (p.Ser651Thr)
c.1870T>A (p.Ser624Thr)
n.2254T>A
Xg.18608868T>CCA412365996CDKL5c.2002T>C (p.Ser668Pro)
c.1951T>C (p.Ser651Pro)
c.1870T>C (p.Ser624Pro)
n.2254T>C
Xg.18608868T>GCA412365999CDKL5c.2002T>G (p.Ser668Ala)
c.1951T>G (p.Ser651Ala)
c.1870T>G (p.Ser624Ala)
n.2254T>G
Xg.18608869C>ACA412366001CDKL5c.2003C>A (p.Ser668Tyr)
c.1952C>A (p.Ser651Tyr)
c.1871C>A (p.Ser624Tyr)
n.2255C>A
Xg.18608869C>GCA412366002CDKL5c.2003C>G (p.Ser668Cys)
c.1952C>G (p.Ser651Cys)
c.1871C>G (p.Ser624Cys)
n.2255C>G
Xg.18608869C>TCA412366004CDKL5c.2003C>T (p.Ser668Phe)
c.1952C>T (p.Ser651Phe)
c.1871C>T (p.Ser624Phe)
n.2255C>T
Xg.18608870_18608882delCA2695231339CDKL5c.2004_2016del (p.Arg669LeufsTer?)
c.1953_1965del (p.Arg652LeufsTer?)
c.1872_1884del (p.Arg625LeufsTer?)
n.2256_2268del
Xg.18608870C>ACA515472282CDKL5c.2004C>A (p.Ser668=)
c.1953C>A (p.Ser651=)
c.1872C>A (p.Ser624=)
n.2256C>A
Xg.18608870C>GCA515472283CDKL5c.2004C>G (p.Ser668=)
c.1953C>G (p.Ser651=)
c.1872C>G (p.Ser624=)
n.2256C>G
Xg.18608870C>TCA515472284CDKL5c.2004C>T (p.Ser668=)
c.1953C>T (p.Ser651=)
c.1872C>T (p.Ser624=)
n.2256C>T
Xg.18608871A>CCA515472286CDKL5c.2005A>C (p.Arg669=)
c.1954A>C (p.Arg652=)
c.1873A>C (p.Arg625=)
n.2257A>C
Xg.18608871A>GCA412366007CDKL5c.2005A>G (p.Arg669Gly)
c.1954A>G (p.Arg652Gly)
c.1873A>G (p.Arg625Gly)
n.2257A>G
Xg.18608871A>TCA412366008CDKL5c.2005A>T (p.Arg669Ter)
c.1954A>T (p.Arg652Ter)
c.1873A>T (p.Arg625Ter)
n.2257A>T
Xg.18608872G>ACA412366014CDKL5c.2006G>A (p.Arg669Lys)
c.1955G>A (p.Arg652Lys)
c.1874G>A (p.Arg625Lys)
n.2258G>A
 COSMIC
Xg.18608872G>CCA412366012CDKL5c.2006G>C (p.Arg669Thr)
c.1955G>C (p.Arg652Thr)
c.1874G>C (p.Arg625Thr)
n.2258G>C
Xg.18608872G>TCA412366010CDKL5c.2006G>T (p.Arg669Ile)
c.1955G>T (p.Arg652Ile)
c.1874G>T (p.Arg625Ile)
n.2258G>T
Xg.18608873A>CCA412366016CDKL5c.2007A>C (p.Arg669Ser)
c.1956A>C (p.Arg652Ser)
c.1875A>C (p.Arg625Ser)
n.2259A>C
Xg.18608873A>GCA515472287CDKL5c.2007A>G (p.Arg669=)
c.1956A>G (p.Arg652=)
c.1875A>G (p.Arg625=)
n.2259A>G
Xg.18608873A>TCA412366018CDKL5c.2007A>T (p.Arg669Ser)
c.1956A>T (p.Arg652Ser)
c.1875A>T (p.Arg625Ser)
n.2259A>T
Xg.18608874G>ACA412366019CDKL5c.2008G>A (p.Glu670Lys)
c.1957G>A (p.Glu653Lys)
c.1876G>A (p.Glu626Lys)
n.2260G>A
Xg.18608874G>CCA412366021CDKL5c.2008G>C (p.Glu670Gln)
c.1957G>C (p.Glu653Gln)
c.1876G>C (p.Glu626Gln)
n.2260G>C
Xg.18608874G>TCA412366022CDKL5c.2008G>T (p.Glu670Ter)
c.1957G>T (p.Glu653Ter)
c.1876G>T (p.Glu626Ter)
n.2260G>T
Xg.18608875_18608878dupCA2580100493CDKL5c.2009_2012dup (p.Thr672ArgfsTer12)
c.1958_1961dup (p.Thr655ArgfsTer12)
c.1877_1880dup (p.Thr628ArgfsTer12)
n.2261_2264dup
 ClinVar
Xg.18608875A>CCA412366024CDKL5c.2009A>C (p.Glu670Ala)
c.1958A>C (p.Glu653Ala)
c.1877A>C (p.Glu626Ala)
n.2261A>C
Xg.18608875A>GCA412366025CDKL5c.2009A>G (p.Glu670Gly)
c.1958A>G (p.Glu653Gly)
c.1877A>G (p.Glu626Gly)
n.2261A>G
Xg.18608875A>TCA412366028CDKL5c.2009A>T (p.Glu670Val)
c.1958A>T (p.Glu653Val)
c.1877A>T (p.Glu626Val)
n.2261A>T
Xg.18608876A>CCA412366031CDKL5c.2010A>C (p.Glu670Asp)
c.1959A>C (p.Glu653Asp)
c.1878A>C (p.Glu626Asp)
n.2262A>C
Xg.18608876A>GCA515472289CDKL5c.2010A>G (p.Glu670=)
c.1959A>G (p.Glu653=)
c.1878A>G (p.Glu626=)
n.2262A>G
 gnomAD v4
Xg.18608876A>TCA412366030CDKL5c.2010A>T (p.Glu670Asp)
c.1959A>T (p.Glu653Asp)
c.1878A>T (p.Glu626Asp)
n.2262A>T
Xg.18608877G>ACA412366033CDKL5c.2011G>A (p.Gly671Ser)
c.1960G>A (p.Gly654Ser)
c.1879G>A (p.Gly627Ser)
n.2263G>A
 dbSNP
Xg.18608877G>CCA412366035CDKL5c.2011G>C (p.Gly671Arg)
c.1960G>C (p.Gly654Arg)
c.1879G>C (p.Gly627Arg)
n.2263G>C
Xg.18608877G=CA2417975830CDKL5c.2011G= (p.Gly671=)
c.1960G= (p.Gly654=)
c.1879G= (p.Gly627=)
n.2263G=
Xg.18608877G>TCA412366037CDKL5c.2011G>T (p.Gly671Cys)
c.1960G>T (p.Gly654Cys)
c.1879G>T (p.Gly627Cys)
n.2263G>T
Xg.18608878G>ACA412366038CDKL5c.2012G>A (p.Gly671Asp)
c.1961G>A (p.Gly654Asp)
c.1880G>A (p.Gly627Asp)
n.2264G>A
Xg.18608878G>CCA412366040CDKL5c.2012G>C (p.Gly671Ala)
c.1961G>C (p.Gly654Ala)
c.1880G>C (p.Gly627Ala)
n.2264G>C
Xg.18608878G>TCA412366042CDKL5c.2012G>T (p.Gly671Val)
c.1961G>T (p.Gly654Val)
c.1880G>T (p.Gly627Val)
n.2264G>T
Xg.18608879C>ACA515472297CDKL5c.2013C>A (p.Gly671=)
c.1962C>A (p.Gly654=)
c.1881C>A (p.Gly627=)
n.2265C>A
Xg.18608879C=CA2417975831CDKL5c.2013C= (p.Gly671=)
c.1962C= (p.Gly654=)
c.1881C= (p.Gly627=)
n.2265C=
Xg.18608879C>GCA515472300CDKL5c.2013C>G (p.Gly671=)
c.1962C>G (p.Gly654=)
c.1881C>G (p.Gly627=)
n.2265C>G
Xg.18608879C>TCA515472296CDKL5c.2013C>T (p.Gly671=)
c.1962C>T (p.Gly654=)
c.1881C>T (p.Gly627=)
n.2265C>T
 ClinVar dbSNP
Xg.18608880A=CA2417975833CDKL5c.2014A= (p.Thr672=)
c.1963A= (p.Thr655=)
c.1882A= (p.Thr628=)
n.2266A=
Xg.18608880A>CCA412366048CDKL5c.2014A>C (p.Thr672Pro)
c.1963A>C (p.Thr655Pro)
c.1882A>C (p.Thr628Pro)
n.2266A>C
Xg.18608880A>GCA412366044CDKL5c.2014A>G (p.Thr672Ala)
c.1963A>G (p.Thr655Ala)
c.1882A>G (p.Thr628Ala)
n.2266A>G
Xg.18608880A>TCA412366046CDKL5c.2014A>T (p.Thr672Ser)
c.1963A>T (p.Thr655Ser)
c.1882A>T (p.Thr628Ser)
n.2266A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18608880_18608881delinsACCA2417975832CDKL5c.2014_2015delinsAC (p.Thr672=)
c.1963_1964delinsAC (p.Thr655=)
c.1882_1883delinsAC (p.Thr628=)
n.2266_2267delinsAC
Xg.18608881C>ACA412366051CDKL5c.2015C>A (p.Thr672Asn)
c.1964C>A (p.Thr655Asn)
c.1883C>A (p.Thr628Asn)
n.2267C>A
Xg.18608881C>GCA412366052CDKL5c.2015C>G (p.Thr672Ser)
c.1964C>G (p.Thr655Ser)
c.1883C>G (p.Thr628Ser)
n.2267C>G
Xg.18608881C>TCA412366054CDKL5c.2015C>T (p.Thr672Ile)
c.1964C>T (p.Thr655Ile)
c.1883C>T (p.Thr628Ile)
n.2267C>T
 gnomAD v4
Xg.18608882dupCA170467CDKL5c.2016dup (p.Ser673LeufsTer10)
c.1965dup (p.Ser656LeufsTer10)
c.1884dup (p.Ser629LeufsTer10)
n.2268dup
 ClinVar dbSNP
Xg.18608882delCA170466CDKL5c.2016del (p.Ser673LeufsTer?)
c.1965del (p.Ser656LeufsTer?)
c.1884del (p.Ser629LeufsTer?)
n.2268del
 ClinVar dbSNP
Xg.18608882C>ACA515472310CDKL5c.2016C>A (p.Thr672=)
c.1965C>A (p.Thr655=)
c.1884C>A (p.Thr628=)
n.2268C>A
Xg.18608882C>GCA515472314CDKL5c.2016C>G (p.Thr672=)
c.1965C>G (p.Thr655=)
c.1884C>G (p.Thr628=)
n.2268C>G
Xg.18608882C>TCA515472311CDKL5c.2016C>T (p.Thr672=)
c.1965C>T (p.Thr655=)
c.1884C>T (p.Thr628=)
n.2268C>T
 ClinVar gnomAD v4
Xg.18608883T>ACA412366057CDKL5c.2017T>A (p.Ser673Thr)
c.1966T>A (p.Ser656Thr)
c.1885T>A (p.Ser629Thr)
n.2269T>A
Xg.18608883T>CCA412366059CDKL5c.2017T>C (p.Ser673Pro)
c.1966T>C (p.Ser656Pro)
c.1885T>C (p.Ser629Pro)
n.2269T>C
Xg.18608883T>GCA412366061CDKL5c.2017T>G (p.Ser673Ala)
c.1966T>G (p.Ser656Ala)
c.1885T>G (p.Ser629Ala)
n.2269T>G
Xg.18608884C>ACA412366063CDKL5c.2018C>A (p.Ser673Tyr)
c.1967C>A (p.Ser656Tyr)
c.1886C>A (p.Ser629Tyr)
n.2270C>A
Xg.18608884C>GCA412366064CDKL5c.2018C>G (p.Ser673Cys)
c.1967C>G (p.Ser656Cys)
c.1886C>G (p.Ser629Cys)
n.2270C>G
Xg.18608884C>TCA412366066CDKL5c.2018C>T (p.Ser673Phe)
c.1967C>T (p.Ser656Phe)
c.1886C>T (p.Ser629Phe)
n.2270C>T
Xg.18608889_18608892delCA2695231340CDKL5c.2023_2026del (p.Phe675IlefsTer?)
c.1972_1975del (p.Phe658IlefsTer?)
c.1891_1894del (p.Phe631IlefsTer?)
n.2275_2278del
Xg.18608885T>ACA515472323CDKL5c.2019T>A (p.Ser673=)
c.1968T>A (p.Ser656=)
c.1887T>A (p.Ser629=)
n.2271T>A
Xg.18608885T>CCA515472326CDKL5c.2019T>C (p.Ser673=)
c.1968T>C (p.Ser656=)
c.1887T>C (p.Ser629=)
n.2271T>C
Xg.18608885T>GCA515472324CDKL5c.2019T>G (p.Ser673=)
c.1968T>G (p.Ser656=)
c.1887T>G (p.Ser629=)
n.2271T>G
Xg.18608886T>ACA412366069CDKL5c.2020T>A (p.Ser674Thr)
c.1969T>A (p.Ser657Thr)
c.1888T>A (p.Ser630Thr)
n.2272T>A
 COSMIC
Xg.18608886T>CCA412366070CDKL5c.2020T>C (p.Ser674Pro)
c.1969T>C (p.Ser657Pro)
c.1888T>C (p.Ser630Pro)
n.2272T>C
 gnomAD v4
Xg.18608886T>GCA412366072CDKL5c.2020T>G (p.Ser674Ala)
c.1969T>G (p.Ser657Ala)
c.1888T>G (p.Ser630Ala)
n.2272T>G
Xg.18608886_18608887delinsTCCA2417975834CDKL5c.2020_2021delinsTC (p.Ser674=)
c.1969_1970delinsTC (p.Ser657=)
c.1888_1889delinsTC (p.Ser630=)
n.2272_2273delinsTC
Xg.18608887C>ACA412366078CDKL5c.2021C>A (p.Ser674Tyr)
c.1970C>A (p.Ser657Tyr)
c.1889C>A (p.Ser630Tyr)
n.2273C>A
 gnomAD v4
Xg.18608887C>GCA412366074CDKL5c.2021C>G (p.Ser674Cys)
c.1970C>G (p.Ser657Cys)
c.1889C>G (p.Ser630Cys)
n.2273C>G
Xg.18608887C>TCA412366076CDKL5c.2021C>T (p.Ser674Phe)
c.1970C>T (p.Ser657Phe)
c.1889C>T (p.Ser630Phe)
n.2273C>T
 gnomAD v4 COSMIC
Xg.18608888delCA16616462CDKL5c.2022del (p.Phe675SerfsTer?)
c.1971del (p.Phe658SerfsTer?)
c.1890del (p.Phe631SerfsTer?)
n.2274del
 ClinVar dbSNP
Xg.18608888C>ACA515472335CDKL5c.2022C>A (p.Ser674=)
c.1971C>A (p.Ser657=)
c.1890C>A (p.Ser630=)
n.2274C>A
 gnomAD v4
Xg.18608888C=CA2417975835CDKL5c.2022C= (p.Ser674=)
c.1971C= (p.Ser657=)
c.1890C= (p.Ser630=)
n.2274C=
Xg.18608888C>GCA10360441CDKL5c.2022C>G (p.Ser674=)
c.1971C>G (p.Ser657=)
c.1890C>G (p.Ser630=)
n.2274C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18608888C>TCA515472337CDKL5c.2022C>T (p.Ser674=)
c.1971C>T (p.Ser657=)
c.1890C>T (p.Ser630=)
n.2274C>T
Xg.18608889T>ACA412366081CDKL5c.2023T>A (p.Phe675Ile)
c.1972T>A (p.Phe658Ile)
c.1891T>A (p.Phe631Ile)
n.2275T>A
Xg.18608889T>CCA412366084CDKL5c.2023T>C (p.Phe675Leu)
c.1972T>C (p.Phe658Leu)
c.1891T>C (p.Phe631Leu)
n.2275T>C
Xg.18608889T>GCA412366085CDKL5c.2023T>G (p.Phe675Val)
c.1972T>G (p.Phe658Val)
c.1891T>G (p.Phe631Val)
n.2275T>G
Xg.18608890T>ACA412366087CDKL5c.2024T>A (p.Phe675Tyr)
c.1973T>A (p.Phe658Tyr)
c.1892T>A (p.Phe631Tyr)
n.2276T>A
Xg.18608890T>CCA412366089CDKL5c.2024T>C (p.Phe675Ser)
c.1973T>C (p.Phe658Ser)
c.1892T>C (p.Phe631Ser)
n.2276T>C
 gnomAD v4
Xg.18608890T>GCA412366090CDKL5c.2024T>G (p.Phe675Cys)
c.1973T>G (p.Phe658Cys)
c.1892T>G (p.Phe631Cys)
n.2276T>G
Xg.18608890_18608891delinsTCCA2417975836CDKL5c.2024_2025delinsTC (p.Phe675=)
c.1973_1974delinsTC (p.Phe658=)
c.1892_1893delinsTC (p.Phe631=)
n.2276_2277delinsTC
Xg.18608891C>ACA412366092CDKL5c.2025C>A (p.Phe675Leu)
c.1974C>A (p.Phe658Leu)
c.1893C>A (p.Phe631Leu)
n.2277C>A
Xg.18608891C>GCA412366094CDKL5c.2025C>G (p.Phe675Leu)
c.1974C>G (p.Phe658Leu)
c.1893C>G (p.Phe631Leu)
n.2277C>G
Xg.18608891C>TCA515472347CDKL5c.2025C>T (p.Phe675=)
c.1974C>T (p.Phe658=)
c.1893C>T (p.Phe631=)
n.2277C>T
Xg.18608892delCA1139667246CDKL5c.2026del (p.His676IlefsTer?)
c.1975del (p.His659IlefsTer?)
c.1894del (p.His632IlefsTer?)
n.2278del
 ClinVar dbSNP
Xg.18608892C>ACA412366096CDKL5c.2026C>A (p.His676Asn)
c.1975C>A (p.His659Asn)
c.1894C>A (p.His632Asn)
n.2278C>A
 gnomAD v4
Xg.18608892C>GCA412366097CDKL5c.2026C>G (p.His676Asp)
c.1975C>G (p.His659Asp)
c.1894C>G (p.His632Asp)
n.2278C>G
Xg.18608892C>TCA412366099CDKL5c.2026C>T (p.His676Tyr)
c.1975C>T (p.His659Tyr)
c.1894C>T (p.His632Tyr)
n.2278C>T
Xg.18608893A>CCA412366101CDKL5c.2027A>C (p.His676Pro)
c.1976A>C (p.His659Pro)
c.1895A>C (p.His632Pro)
n.2279A>C
Xg.18608893A>GCA412366102CDKL5c.2027A>G (p.His676Arg)
c.1976A>G (p.His659Arg)
c.1895A>G (p.His632Arg)
n.2279A>G
 gnomAD v4
Xg.18608893A>TCA412366103CDKL5c.2027A>T (p.His676Leu)
c.1976A>T (p.His659Leu)
c.1895A>T (p.His632Leu)
n.2279A>T
Xg.18608893_18608894insCCCA2819900561CDKL5c.2027_2028insCC (p.Thr677LeufsTer?)
c.1976_1977insCC (p.Thr660LeufsTer?)
c.1895_1896insCC (p.Thr633LeufsTer?)
n.2279_2280insCC
Xg.18608894T>ACA412366104CDKL5c.2028T>A (p.His676Gln)
c.1977T>A (p.His659Gln)
c.1896T>A (p.His632Gln)
n.2280T>A
Xg.18608894T>CCA515472348CDKL5c.2028T>C (p.His676=)
c.1977T>C (p.His659=)
c.1896T>C (p.His632=)
n.2280T>C
 gnomAD v4
Xg.18608894T>GCA412366105CDKL5c.2028T>G (p.His676Gln)
c.1977T>G (p.His659Gln)
c.1896T>G (p.His632Gln)
n.2280T>G
Xg.18608895A>CCA412366108CDKL5c.2029A>C (p.Thr677Pro)
c.1978A>C (p.Thr660Pro)
c.1897A>C (p.Thr633Pro)
n.2281A>C
Xg.18608895A>GCA412366109CDKL5c.2029A>G (p.Thr677Ala)
c.1978A>G (p.Thr660Ala)
c.1897A>G (p.Thr633Ala)
n.2281A>G
Xg.18608895A>TCA412366111CDKL5c.2029A>T (p.Thr677Ser)
c.1978A>T (p.Thr660Ser)
c.1897A>T (p.Thr633Ser)
n.2281A>T
Xg.18608896C>ACA412366114CDKL5c.2030C>A (p.Thr677Lys)
c.1979C>A (p.Thr660Lys)
c.1898C>A (p.Thr633Lys)
n.2282C>A
 gnomAD v4
Xg.18608896C>GCA412366115CDKL5c.2030C>G (p.Thr677Arg)
c.1979C>G (p.Thr660Arg)
c.1898C>G (p.Thr633Arg)
n.2282C>G
Xg.18608896C>TCA412366117CDKL5c.2030C>T (p.Thr677Ile)
c.1979C>T (p.Thr660Ile)
c.1898C>T (p.Thr633Ile)
n.2282C>T
Xg.18608897A=CA2417975837CDKL5c.2031A= (p.Thr677=)
c.1980A= (p.Thr660=)
c.1899A= (p.Thr633=)
n.2283A=
Xg.18608897A>CCA515472355CDKL5c.2031A>C (p.Thr677=)
c.1980A>C (p.Thr660=)
c.1899A>C (p.Thr633=)
n.2283A>C
Xg.18608897A>GCA515472357CDKL5c.2031A>G (p.Thr677=)
c.1980A>G (p.Thr660=)
c.1899A>G (p.Thr633=)
n.2283A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18608897A>TCA515472359CDKL5c.2031A>T (p.Thr677=)
c.1980A>T (p.Thr660=)
c.1899A>T (p.Thr633=)
n.2283A>T
Xg.18608898delCA2695231342CDKL5c.2032del (p.Arg678AlafsTer?)
c.1981del (p.Arg661AlafsTer?)
c.1900del (p.Arg634AlafsTer?)
n.2284del
Xg.18608898C>ACA412366118CDKL5c.2032C>A (p.Arg678Ser)
c.1981C>A (p.Arg661Ser)
c.1900C>A (p.Arg634Ser)
n.2284C>A
 gnomAD v4
Xg.18608898C=CA2417975838CDKL5c.2032C= (p.Arg678=)
c.1981C= (p.Arg661=)
c.1900C= (p.Arg634=)
n.2284C=
Xg.18608898C>GCA412366121CDKL5c.2032C>G (p.Arg678Gly)
c.1981C>G (p.Arg661Gly)
c.1900C>G (p.Arg634Gly)
n.2284C>G
Xg.18608898C>TCA10360442CDKL5c.2032C>T (p.Arg678Cys)
c.1981C>T (p.Arg661Cys)
c.1900C>T (p.Arg634Cys)
n.2284C>T
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
Xg.18608899G>ACA412366123CDKL5c.2033G>A (p.Arg678His)
c.1982G>A (p.Arg661His)
c.1901G>A (p.Arg634His)
n.2285G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18608899G>CCA412366125CDKL5c.2033G>C (p.Arg678Pro)
c.1982G>C (p.Arg661Pro)
c.1901G>C (p.Arg634Pro)
n.2285G>C
Xg.18608899G=CA2417975839CDKL5c.2033G= (p.Arg678=)
c.1982G= (p.Arg661=)
c.1901G= (p.Arg634=)
n.2285G=
Xg.18608899G>TCA412366127CDKL5c.2033G>T (p.Arg678Leu)
c.1982G>T (p.Arg661Leu)
c.1901G>T (p.Arg634Leu)
n.2285G>T
Xg.18608900C>ACA515472368CDKL5c.2034C>A (p.Arg678=)
c.1983C>A (p.Arg661=)
c.1902C>A (p.Arg634=)
n.2286C>A
 gnomAD v4
Xg.18608900C>GCA515472370CDKL5c.2034C>G (p.Arg678=)
c.1983C>G (p.Arg661=)
c.1902C>G (p.Arg634=)
n.2286C>G
Xg.18608900C>TCA515472371CDKL5c.2034C>T (p.Arg678=)
c.1983C>T (p.Arg661=)
c.1902C>T (p.Arg634=)
n.2286C>T
 gnomAD v4
Xg.18608901delCA2579562962CDKL5c.2035del (p.Gln679ArgfsTer?)
c.1984del (p.Gln662ArgfsTer?)
c.1903del (p.Gln635ArgfsTer?)
n.2287del
 gnomAD v4
Xg.18608901C>ACA412366129CDKL5c.2035C>A (p.Gln679Lys)
c.1984C>A (p.Gln662Lys)
c.1903C>A (p.Gln635Lys)
n.2287C>A
Xg.18608901C>GCA412366133CDKL5c.2035C>G (p.Gln679Glu)
c.1984C>G (p.Gln662Glu)
c.1903C>G (p.Gln635Glu)
n.2287C>G
Xg.18608901C>TCA412366131CDKL5c.2035C>T (p.Gln679Ter)
c.1984C>T (p.Gln662Ter)
c.1903C>T (p.Gln635Ter)
n.2287C>T
 gnomAD v4
Xg.18608902A>CCA412366135CDKL5c.2036A>C (p.Gln679Pro)
c.1985A>C (p.Gln662Pro)
c.1904A>C (p.Gln635Pro)
n.2288A>C
Xg.18608902A>GCA412366139CDKL5c.2036A>G (p.Gln679Arg)
c.1985A>G (p.Gln662Arg)
c.1904A>G (p.Gln635Arg)
n.2288A>G
 gnomAD v4
Xg.18608902A>TCA412366136CDKL5c.2036A>T (p.Gln679Leu)
c.1985A>T (p.Gln662Leu)
c.1904A>T (p.Gln635Leu)
n.2288A>T
Xg.18608903G>ACA515472381CDKL5c.2037G>A (p.Gln679=)
c.1986G>A (p.Gln662=)
c.1905G>A (p.Gln635=)
n.2289G>A
 ClinVar gnomAD v4
Xg.18608903G>CCA412366141CDKL5c.2037G>C (p.Gln679His)
c.1986G>C (p.Gln662His)
c.1905G>C (p.Gln635His)
n.2289G>C
Xg.18608903G>TCA412366142CDKL5c.2037G>T (p.Gln679His)
c.1986G>T (p.Gln662His)
c.1905G>T (p.Gln635His)
n.2289G>T
Xg.18608904A=CA2417975840CDKL5c.2038A= (p.Lys680=)
c.1987A= (p.Lys663=)
c.1906A= (p.Lys636=)
n.2290A=
Xg.18608904A>CCA412366145CDKL5c.2038A>C (p.Lys680Gln)
c.1987A>C (p.Lys663Gln)
c.1906A>C (p.Lys636Gln)
n.2290A>C
Xg.18608904A>GCA412366146CDKL5c.2038A>G (p.Lys680Glu)
c.1987A>G (p.Lys663Glu)
c.1906A>G (p.Lys636Glu)
n.2290A>G
Xg.18608904A>TCA412366148CDKL5c.2038A>T (p.Lys680Ter)
c.1987A>T (p.Lys663Ter)
c.1906A>T (p.Lys636Ter)
n.2290A>T
 ClinVar dbSNP
Xg.18608905A>CCA412366150CDKL5c.2039A>C (p.Lys680Thr)
c.1988A>C (p.Lys663Thr)
c.1907A>C (p.Lys636Thr)
n.2291A>C
Xg.18608905A>GCA412366152CDKL5c.2039A>G (p.Lys680Arg)
c.1988A>G (p.Lys663Arg)
c.1907A>G (p.Lys636Arg)
n.2291A>G
Xg.18608905A>TCA412366153CDKL5c.2039A>T (p.Lys680Met)
c.1988A>T (p.Lys663Met)
c.1907A>T (p.Lys636Met)
n.2291A>T
Xg.18608906G>ACA10360444CDKL5c.2040G>A (p.Lys680=)
c.1989G>A (p.Lys663=)
c.1908G>A (p.Lys636=)
n.2292G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18608906G>CCA412366156CDKL5c.2040G>C (p.Lys680Asn)
c.1989G>C (p.Lys663Asn)
c.1908G>C (p.Lys636Asn)
n.2292G>C
Xg.18608906G=CA2417975841CDKL5c.2040G= (p.Lys680=)
c.1989G= (p.Lys663=)
c.1908G= (p.Lys636=)
n.2292G=
Xg.18608906G>TCA10360443CDKL5c.2040G>T (p.Lys680Asn)
c.1989G>T (p.Lys663Asn)
c.1908G>T (p.Lys636Asn)
n.2292G>T
 dbSNP ExAC gnomAD v2
Xg.18608907T>ACA412366163CDKL5c.2041T>A (p.Ser681Thr)
c.1990T>A (p.Ser664Thr)
c.1909T>A (p.Ser637Thr)
n.2293T>A
Xg.18608907T>CCA412366161CDKL5c.2041T>C (p.Ser681Pro)
c.1990T>C (p.Ser664Pro)
c.1909T>C (p.Ser637Pro)
n.2293T>C
Xg.18608907T>GCA412366160CDKL5c.2041T>G (p.Ser681Ala)
c.1990T>G (p.Ser664Ala)
c.1909T>G (p.Ser637Ala)
n.2293T>G
Xg.18608908C>ACA412366164CDKL5c.2042C>A (p.Ser681Tyr)
c.1991C>A (p.Ser664Tyr)
c.1910C>A (p.Ser637Tyr)
n.2294C>A
 gnomAD v4
Xg.18608908C>GCA412366166CDKL5c.2042C>G (p.Ser681Cys)
c.1991C>G (p.Ser664Cys)
c.1910C>G (p.Ser637Cys)
n.2294C>G
Xg.18608908C>TCA412366167CDKL5c.2042C>T (p.Ser681Phe)
c.1991C>T (p.Ser664Phe)
c.1910C>T (p.Ser637Phe)
n.2294C>T
Xg.18608909T>ACA515472406CDKL5c.2043T>A (p.Ser681=)
c.1992T>A (p.Ser664=)
c.1911T>A (p.Ser637=)
n.2295T>A
Xg.18608909T>CCA515472408CDKL5c.2043T>C (p.Ser681=)
c.1992T>C (p.Ser664=)
c.1911T>C (p.Ser637=)
n.2295T>C
Xg.18608909T>GCA515472404CDKL5c.2043T>G (p.Ser681=)
c.1992T>G (p.Ser664=)
c.1911T>G (p.Ser637=)
n.2295T>G
Xg.18608910G>ACA412366168CDKL5c.2044G>A (p.Glu682Lys)
c.1993G>A (p.Glu665Lys)
c.1912G>A (p.Glu638Lys)
n.2296G>A
 gnomAD v4
Xg.18608910G>CCA412366169CDKL5c.2044G>C (p.Glu682Gln)
c.1993G>C (p.Glu665Gln)
c.1912G>C (p.Glu638Gln)
n.2296G>C
 gnomAD v4
Xg.18608910G>TCA412366171CDKL5c.2044G>T (p.Glu682Ter)
c.1993G>T (p.Glu665Ter)
c.1912G>T (p.Glu638Ter)
n.2296G>T
Xg.18608910_18608912delinsGAGCA2417975842CDKL5c.2044_2046delinsGAG (p.Glu682=)
c.1993_1995delinsGAG (p.Glu665=)
c.1912_1914delinsGAG (p.Glu638=)
n.2296_2298delinsGAG
Xg.18608911A>CCA412366173CDKL5c.2045A>C (p.Glu682Ala)
c.1994A>C (p.Glu665Ala)
c.1913A>C (p.Glu638Ala)
n.2297A>C
Xg.18608911A>GCA412366174CDKL5c.2045A>G (p.Glu682Gly)
c.1994A>G (p.Glu665Gly)
c.1913A>G (p.Glu638Gly)
n.2297A>G
 gnomAD v4
Xg.18608911A>TCA412366177CDKL5c.2045A>T (p.Glu682Val)
c.1994A>T (p.Glu665Val)
c.1913A>T (p.Glu638Val)
n.2297A>T
 gnomAD v4
Xg.18608911delinsGCGTCACAATAAAATATCA2695231343CDKL5c.2045delinsGCGTCACAATAAAATAT (p.Glu682GlyfsTer12)
c.1994delinsGCGTCACAATAAAATAT (p.Glu665GlyfsTer12)
c.1913delinsGCGTCACAATAAAATAT (p.Glu638GlyfsTer12)
n.2297delinsGCGTCACAATAAAATAT
Xg.18608912G>ACA515472418CDKL5c.2046G>A (p.Glu682=)
c.1995G>A (p.Glu665=)
c.1914G>A (p.Glu638=)
n.2298G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18608912G>CCA412366178CDKL5c.2046G>C (p.Glu682Asp)
c.1995G>C (p.Glu665Asp)
c.1914G>C (p.Glu638Asp)
n.2298G>C
Xg.18608912G=CA2417975843CDKL5c.2046G= (p.Glu682=)
c.1995G= (p.Glu665=)
c.1914G= (p.Glu638=)
n.2298G=
Xg.18608912G>TCA412366179CDKL5c.2046G>T (p.Glu682Asp)
c.1995G>T (p.Glu665Asp)
c.1914G>T (p.Glu638Asp)
n.2298G>T
Xg.18608913G>ACA199385CDKL5c.2046+1G>A (n.2046+1G>A)
c.1995+1G>A (n.1995+1G>A)
c.1914+1G>A (n.1914+1G>A)
n.2298+1G>A
 ClinVar dbSNP gnomAD v4
Xg.18608913G>CCA412366183CDKL5c.2046+1G>C (n.2046+1G>C)
c.1995+1G>C (n.1995+1G>C)
c.1914+1G>C (n.1914+1G>C)
n.2298+1G>C
Xg.18608913G=CA2417975844CDKL5c.2046+1G= (n.2046+1G=)
c.1995+1G= (n.1995+1G=)
c.1914+1G= (n.1914+1G=)
n.2298+1G=
Xg.18608913G>TCA412366181CDKL5c.2046+1G>T (n.2046+1G>T)
c.1995+1G>T (n.1995+1G>T)
c.1914+1G>T (n.1914+1G>T)
n.2298+1G>T
Xg.18608914delCA2579562963CDKL5c.2046+2del (n.2046+2del)
c.1995+2del (n.1995+2del)
c.1914+2del (n.1914+2del)
n.2298+2del
Xg.18608914T>ACA412366186CDKL5c.2046+2T>A (n.2046+2T>A)
c.1995+2T>A (n.1995+2T>A)
c.1914+2T>A (n.1914+2T>A)
n.2298+2T>A
Xg.18608914T>CCA412366188CDKL5c.2046+2T>C (n.2046+2T>C)
c.1995+2T>C (n.1995+2T>C)
c.1914+2T>C (n.1914+2T>C)
n.2298+2T>C
 gnomAD v4
Xg.18608914T>GCA412366189CDKL5c.2046+2T>G (n.2046+2T>G)
c.1995+2T>G (n.1995+2T>G)
c.1914+2T>G (n.1914+2T>G)
n.2298+2T>G
Xg.18608915A=CA2417975845CDKL5c.2046+3A= (n.2046+3A=)
c.1995+3A= (n.1995+3A=)
c.1914+3A= (n.1914+3A=)
n.2298+3A=
Xg.18608915A>GCA10360445CDKL5c.2046+3A>G (n.2046+3A>G)
c.1995+3A>G (n.1995+3A>G)
c.1914+3A>G (n.1914+3A>G)
n.2298+3A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched