Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18613192T>ACA412368074CDKL5c.2193T>A (p.Asn731Lys)
c.2142T>A (p.Asn714Lys)
c.2061T>A (p.Asn687Lys)
n.2445T>A
Xg.18613192T>CCA515473223CDKL5c.2193T>C (p.Asn731=)
c.2142T>C (p.Asn714=)
c.2061T>C (p.Asn687=)
n.2445T>C
 ClinVar dbSNP gnomAD v4
Xg.18613192T>GCA412368068CDKL5c.2193T>G (p.Asn731Lys)
c.2142T>G (p.Asn714Lys)
c.2061T>G (p.Asn687Lys)
n.2445T>G
Xg.18613192T=CA2417977334CDKL5c.2193T= (p.Asn731=)
c.2142T= (p.Asn714=)
c.2061T= (p.Asn687=)
n.2445T=
Xg.18613193G>ACA326989717CDKL5c.2194G>A (p.Val732Met)
c.2143G>A (p.Val715Met)
c.2062G>A (p.Val688Met)
n.2446G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613193G>CCA412368080CDKL5c.2194G>C (p.Val732Leu)
c.2143G>C (p.Val715Leu)
c.2062G>C (p.Val688Leu)
n.2446G>C
Xg.18613193G=CA2417977335CDKL5c.2194G= (p.Val732=)
c.2143G= (p.Val715=)
c.2062G= (p.Val688=)
n.2446G=
Xg.18613193G>TCA412368082CDKL5c.2194G>T (p.Val732Leu)
c.2143G>T (p.Val715Leu)
c.2062G>T (p.Val688Leu)
n.2446G>T
Xg.18613194T>ACA412368086CDKL5c.2195T>A (p.Val732Glu)
c.2144T>A (p.Val715Glu)
c.2063T>A (p.Val688Glu)
n.2447T>A
 ClinVar dbSNP
Xg.18613194T>CCA412368089CDKL5c.2195T>C (p.Val732Ala)
c.2144T>C (p.Val715Ala)
c.2063T>C (p.Val688Ala)
n.2447T>C
Xg.18613194T>GCA412368092CDKL5c.2195T>G (p.Val732Gly)
c.2144T>G (p.Val715Gly)
c.2063T>G (p.Val688Gly)
n.2447T>G
Xg.18613194T=CA2417977336CDKL5c.2195T= (p.Val732=)
c.2144T= (p.Val715=)
c.2063T= (p.Val688=)
n.2447T=
Xg.18613195G>ACA515473225CDKL5c.2196G>A (p.Val732=)
c.2145G>A (p.Val715=)
c.2064G>A (p.Val688=)
n.2448G>A
Xg.18613195G>CCA515473226CDKL5c.2196G>C (p.Val732=)
c.2145G>C (p.Val715=)
c.2064G>C (p.Val688=)
n.2448G>C
Xg.18613195G=CA2417977337CDKL5c.2196G= (p.Val732=)
c.2145G= (p.Val715=)
c.2064G= (p.Val688=)
n.2448G=
Xg.18613195G>TCA515473228CDKL5c.2196G>T (p.Val732=)
c.2145G>T (p.Val715=)
c.2064G>T (p.Val688=)
n.2448G>T
 dbSNP
Xg.18613196_18613203dupCA916083847CDKL5c.2197_2204dup (p.Arg735SerfsTer?)
c.2146_2153dup (p.Arg718SerfsTer?)
c.2065_2072dup (p.Arg691SerfsTer?)
n.2449_2456dup
 ClinVar dbSNP
Xg.18613196T>ACA412368102CDKL5c.2197T>A (p.Ser733Thr)
c.2146T>A (p.Ser716Thr)
c.2065T>A (p.Ser689Thr)
n.2449T>A
Xg.18613196T>CCA412368096CDKL5c.2197T>C (p.Ser733Pro)
c.2146T>C (p.Ser716Pro)
c.2065T>C (p.Ser689Pro)
n.2449T>C
Xg.18613196T>GCA412368099CDKL5c.2197T>G (p.Ser733Ala)
c.2146T>G (p.Ser716Ala)
c.2065T>G (p.Ser689Ala)
n.2449T>G
Xg.18613197C>ACA412368106CDKL5c.2198C>A (p.Ser733Ter)
c.2147C>A (p.Ser716Ter)
c.2066C>A (p.Ser689Ter)
n.2450C>A
 gnomAD v4
Xg.18613197C>GCA412368108CDKL5c.2198C>G (p.Ser733Ter)
c.2147C>G (p.Ser716Ter)
c.2066C>G (p.Ser689Ter)
n.2450C>G
Xg.18613197C>TCA412368111CDKL5c.2198C>T (p.Ser733Leu)
c.2147C>T (p.Ser716Leu)
c.2066C>T (p.Ser689Leu)
n.2450C>T
Xg.18613198A>CCA515473230CDKL5c.2199A>C (p.Ser733=)
c.2148A>C (p.Ser716=)
c.2067A>C (p.Ser689=)
n.2451A>C
Xg.18613198A>GCA515473231CDKL5c.2199A>G (p.Ser733=)
c.2148A>G (p.Ser716=)
c.2067A>G (p.Ser689=)
n.2451A>G
Xg.18613198A>TCA515473234CDKL5c.2199A>T (p.Ser733=)
c.2148A>T (p.Ser716=)
c.2067A>T (p.Ser689=)
n.2451A>T
Xg.18613199A=CA2417977338CDKL5c.2200A= (p.Thr734=)
c.2149A= (p.Thr717=)
c.2068A= (p.Thr690=)
n.2452A=
Xg.18613199A>CCA412368114CDKL5c.2200A>C (p.Thr734Pro)
c.2149A>C (p.Thr717Pro)
c.2068A>C (p.Thr690Pro)
n.2452A>C
Xg.18613199A>GCA171623CDKL5c.2200A>G (p.Thr734Ala)
c.2149A>G (p.Thr717Ala)
c.2068A>G (p.Thr690Ala)
n.2452A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18613199A>TCA412368119CDKL5c.2200A>T (p.Thr734Ser)
c.2149A>T (p.Thr717Ser)
c.2068A>T (p.Thr690Ser)
n.2452A>T
Xg.18613200C>ACA412368128CDKL5c.2201C>A (p.Thr734Asn)
c.2150C>A (p.Thr717Asn)
c.2069C>A (p.Thr690Asn)
n.2453C>A
Xg.18613200C>GCA412368123CDKL5c.2201C>G (p.Thr734Ser)
c.2150C>G (p.Thr717Ser)
c.2069C>G (p.Thr690Ser)
n.2453C>G
Xg.18613200C>TCA412368124CDKL5c.2201C>T (p.Thr734Ile)
c.2150C>T (p.Thr717Ile)
c.2069C>T (p.Thr690Ile)
n.2453C>T
Xg.18613200_18613203dupCA2573158480CDKL5c.2201_2204dup (p.Arg735SerfsTer2)
c.2150_2153dup (p.Arg718SerfsTer2)
c.2069_2072dup (p.Arg691SerfsTer2)
n.2453_2456dup
 ClinVar dbSNP
Xg.18613201T>ACA515473238CDKL5c.2202T>A (p.Thr734=)
c.2151T>A (p.Thr717=)
c.2070T>A (p.Thr690=)
n.2454T>A
Xg.18613201T>CCA515473241CDKL5c.2202T>C (p.Thr734=)
c.2151T>C (p.Thr717=)
c.2070T>C (p.Thr690=)
n.2454T>C
Xg.18613201T>GCA515473242CDKL5c.2202T>G (p.Thr734=)
c.2151T>G (p.Thr717=)
c.2070T>G (p.Thr690=)
n.2454T>G
Xg.18613201_18613203delinsTAGCA2417977339CDKL5c.2202_2204delinsTAG (p.Thr734=)
c.2151_2153delinsTAG (p.Thr717=)
c.2070_2072delinsTAG (p.Thr690=)
n.2454_2456delinsTAG
Xg.18613202A=CA2417977340CDKL5c.2203A= (p.Arg735=)
c.2152A= (p.Arg718=)
c.2071A= (p.Arg691=)
n.2455A=
Xg.18613202A>CCA515473243CDKL5c.2203A>C (p.Arg735=)
c.2152A>C (p.Arg718=)
c.2071A>C (p.Arg691=)
n.2455A>C
Xg.18613202A>GCA412368131CDKL5c.2203A>G (p.Arg735Gly)
c.2152A>G (p.Arg718Gly)
c.2071A>G (p.Arg691Gly)
n.2455A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18613202A>TCA412368134CDKL5c.2203A>T (p.Arg735Ter)
c.2152A>T (p.Arg718Ter)
c.2071A>T (p.Arg691Ter)
n.2455A>T
Xg.18613202dupCA2695231351CDKL5c.2203dup (p.Arg735LysfsTer29)
c.2152dup (p.Arg718LysfsTer29)
c.2071dup (p.Arg691LysfsTer29)
n.2455dup
Xg.18613204_18613205delCA294686CDKL5c.2205_2206del (p.Arg735SerfsTer28)
c.2154_2155del (p.Arg718SerfsTer28)
c.2073_2074del (p.Arg691SerfsTer28)
n.2457_2458del
 ClinVar dbSNP
Xg.18613203G>ACA412368139CDKL5c.2204G>A (p.Arg735Lys)
c.2153G>A (p.Arg718Lys)
c.2072G>A (p.Arg691Lys)
n.2456G>A
Xg.18613203G>CCA412368141CDKL5c.2204G>C (p.Arg735Thr)
c.2153G>C (p.Arg718Thr)
c.2072G>C (p.Arg691Thr)
n.2456G>C
Xg.18613203G>TCA412368145CDKL5c.2204G>T (p.Arg735Ile)
c.2153G>T (p.Arg718Ile)
c.2072G>T (p.Arg691Ile)
n.2456G>T
Xg.18613204A=CA2417977341CDKL5c.2205A= (p.Arg735=)
c.2154A= (p.Arg718=)
c.2073A= (p.Arg691=)
n.2457A=
Xg.18613204A>CCA412368151CDKL5c.2205A>C (p.Arg735Ser)
c.2154A>C (p.Arg718Ser)
c.2073A>C (p.Arg691Ser)
n.2457A>C
Xg.18613204A>GCA515473246CDKL5c.2205A>G (p.Arg735=)
c.2154A>G (p.Arg718=)
c.2073A>G (p.Arg691=)
n.2457A>G
 dbSNP
Xg.18613204A>TCA412368148CDKL5c.2205A>T (p.Arg735Ser)
c.2154A>T (p.Arg718Ser)
c.2073A>T (p.Arg691Ser)
n.2457A>T
Xg.18613205G>ACA412368155CDKL5c.2206G>A (p.Val736Ile)
c.2155G>A (p.Val719Ile)
c.2074G>A (p.Val692Ile)
n.2458G>A
Xg.18613205G>CCA412368158CDKL5c.2206G>C (p.Val736Leu)
c.2155G>C (p.Val719Leu)
c.2074G>C (p.Val692Leu)
n.2458G>C
Xg.18613205G>TCA412368161CDKL5c.2206G>T (p.Val736Phe)
c.2155G>T (p.Val719Phe)
c.2074G>T (p.Val692Phe)
n.2458G>T
Xg.18613206T>ACA412368163CDKL5c.2207T>A (p.Val736Asp)
c.2156T>A (p.Val719Asp)
c.2075T>A (p.Val692Asp)
n.2459T>A
Xg.18613206T>CCA412368166CDKL5c.2207T>C (p.Val736Ala)
c.2156T>C (p.Val719Ala)
c.2075T>C (p.Val692Ala)
n.2459T>C
Xg.18613206T>GCA412368170CDKL5c.2207T>G (p.Val736Gly)
c.2156T>G (p.Val719Gly)
c.2075T>G (p.Val692Gly)
n.2459T>G
Xg.18613207T>ACA515473249CDKL5c.2208T>A (p.Val736=)
c.2157T>A (p.Val719=)
c.2076T>A (p.Val692=)
n.2460T>A
Xg.18613207T>CCA515473250CDKL5c.2208T>C (p.Val736=)
c.2157T>C (p.Val719=)
c.2076T>C (p.Val692=)
n.2460T>C
Xg.18613207T>GCA515473252CDKL5c.2208T>G (p.Val736=)
c.2157T>G (p.Val719=)
c.2076T>G (p.Val692=)
n.2460T>G
Xg.18613208T>ACA412368173CDKL5c.2209T>A (p.Ser737Thr)
c.2158T>A (p.Ser720Thr)
c.2077T>A (p.Ser693Thr)
n.2461T>A
Xg.18613208T>CCA412368176CDKL5c.2209T>C (p.Ser737Pro)
c.2158T>C (p.Ser720Pro)
c.2077T>C (p.Ser693Pro)
n.2461T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.18613208T>GCA412368178CDKL5c.2209T>G (p.Ser737Ala)
c.2158T>G (p.Ser720Ala)
c.2077T>G (p.Ser693Ala)
n.2461T>G
Xg.18613208T=CA2417977342CDKL5c.2209T= (p.Ser737=)
c.2158T= (p.Ser720=)
c.2077T= (p.Ser693=)
n.2461T=
Xg.18613209C>ACA412368182CDKL5c.2210C>A (p.Ser737Tyr)
c.2159C>A (p.Ser720Tyr)
c.2078C>A (p.Ser693Tyr)
n.2462C>A
Xg.18613209C>GCA412368184CDKL5c.2210C>G (p.Ser737Cys)
c.2159C>G (p.Ser720Cys)
c.2078C>G (p.Ser693Cys)
n.2462C>G
 COSMIC
Xg.18613209C>TCA412368188CDKL5c.2210C>T (p.Ser737Phe)
c.2159C>T (p.Ser720Phe)
c.2078C>T (p.Ser693Phe)
n.2462C>T
Xg.18613210T>ACA515473253CDKL5c.2211T>A (p.Ser737=)
c.2160T>A (p.Ser720=)
c.2079T>A (p.Ser693=)
n.2463T>A
Xg.18613210T>CCA515473254CDKL5c.2211T>C (p.Ser737=)
c.2160T>C (p.Ser720=)
c.2079T>C (p.Ser693=)
n.2463T>C
Xg.18613210T>GCA515473255CDKL5c.2211T>G (p.Ser737=)
c.2160T>G (p.Ser720=)
c.2079T>G (p.Ser693=)
n.2463T>G
Xg.18613211T>ACA412368191CDKL5c.2212T>A (p.Ser738Thr)
c.2161T>A (p.Ser721Thr)
c.2080T>A (p.Ser694Thr)
n.2464T>A
Xg.18613211T>CCA412368196CDKL5c.2212T>C (p.Ser738Pro)
c.2161T>C (p.Ser721Pro)
c.2080T>C (p.Ser694Pro)
n.2464T>C
Xg.18613211T>GCA412368193CDKL5c.2212T>G (p.Ser738Ala)
c.2161T>G (p.Ser721Ala)
c.2080T>G (p.Ser694Ala)
n.2464T>G
Xg.18613211_18613214delinsTCTCCA2417977343CDKL5c.2212_2215delinsTCTC (p.Ser738=)
c.2161_2164delinsTCTC (p.Ser721=)
c.2080_2083delinsTCTC (p.Ser694=)
n.2464_2467delinsTCTC
Xg.18613212C>ACA412368199CDKL5c.2213C>A (p.Ser738Tyr)
c.2162C>A (p.Ser721Tyr)
c.2081C>A (p.Ser694Tyr)
n.2465C>A
Xg.18613212C>GCA412368205CDKL5c.2213C>G (p.Ser738Cys)
c.2162C>G (p.Ser721Cys)
c.2081C>G (p.Ser694Cys)
n.2465C>G
Xg.18613212C>TCA412368202CDKL5c.2213C>T (p.Ser738Phe)
c.2162C>T (p.Ser721Phe)
c.2081C>T (p.Ser694Phe)
n.2465C>T
Xg.18613212_18613214delCA1139667250CDKL5c.2213_2215del (p.Ser738del)
c.2162_2164del (p.Ser721del)
c.2081_2083del (p.Ser694del)
n.2465_2467del
 ClinVar dbSNP
Xg.18613213T>ACA515473258CDKL5c.2214T>A (p.Ser738=)
c.2163T>A (p.Ser721=)
c.2082T>A (p.Ser694=)
n.2466T>A
Xg.18613213T>CCA515473259CDKL5c.2214T>C (p.Ser738=)
c.2163T>C (p.Ser721=)
c.2082T>C (p.Ser694=)
n.2466T>C
Xg.18613213T>GCA515473260CDKL5c.2214T>G (p.Ser738=)
c.2163T>G (p.Ser721=)
c.2082T>G (p.Ser694=)
n.2466T>G
Xg.18613214C>ACA412368209CDKL5c.2215C>A (p.Leu739Ile)
c.2164C>A (p.Leu722Ile)
c.2083C>A (p.Leu695Ile)
n.2467C>A
Xg.18613214C=CA2417977344CDKL5c.2215C= (p.Leu739=)
c.2164C= (p.Leu722=)
c.2083C= (p.Leu695=)
n.2467C=
Xg.18613214C>GCA10360509CDKL5c.2215C>G (p.Leu739Val)
c.2164C>G (p.Leu722Val)
c.2083C>G (p.Leu695Val)
n.2467C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613214C>TCA205703CDKL5c.2215C>T (p.Leu739=)
c.2164C>T (p.Leu722=)
c.2083C>T (p.Leu695=)
n.2467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613215delCA2580100387CDKL5c.2216del (p.Leu739HisfsTer?)
c.2165del (p.Leu722HisfsTer?)
c.2084del (p.Leu695HisfsTer?)
n.2468del
 ClinVar
Xg.18613215T>ACA412368215CDKL5c.2216T>A (p.Leu739Gln)
c.2165T>A (p.Leu722Gln)
c.2084T>A (p.Leu695Gln)
n.2468T>A
Xg.18613215T>CCA412368217CDKL5c.2216T>C (p.Leu739Pro)
c.2165T>C (p.Leu722Pro)
c.2084T>C (p.Leu695Pro)
n.2468T>C
 gnomAD v4
Xg.18613215T>GCA412368220CDKL5c.2216T>G (p.Leu739Arg)
c.2165T>G (p.Leu722Arg)
c.2084T>G (p.Leu695Arg)
n.2468T>G
Xg.18613216delCA645620504CDKL5c.2217del (p.Pro740HisfsTer?)
c.2166del (p.Pro723HisfsTer?)
c.2085del (p.Pro696HisfsTer?)
n.2469del
 COSMIC
Xg.18613216A=CA2417977345CDKL5c.2217A= (p.Leu739=)
c.2166A= (p.Leu722=)
c.2085A= (p.Leu695=)
n.2469A=
Xg.18613216A>CCA515473266CDKL5c.2217A>C (p.Leu739=)
c.2166A>C (p.Leu722=)
c.2085A>C (p.Leu695=)
n.2469A>C
Xg.18613216A>GCA515473264CDKL5c.2217A>G (p.Leu739=)
c.2166A>G (p.Leu722=)
c.2085A>G (p.Leu695=)
n.2469A>G
 ClinVar dbSNP
Xg.18613216A>TCA515473263CDKL5c.2217A>T (p.Leu739=)
c.2166A>T (p.Leu722=)
c.2085A>T (p.Leu695=)
n.2469A>T
Xg.18613217C>ACA10360511CDKL5c.2218C>A (p.Pro740Thr)
c.2167C>A (p.Pro723Thr)
c.2086C>A (p.Pro696Thr)
n.2470C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613217C=CA2417977346CDKL5c.2218C= (p.Pro740=)
c.2167C= (p.Pro723=)
c.2086C= (p.Pro696=)
n.2470C=
Xg.18613217C>GCA10360510CDKL5c.2218C>G (p.Pro740Ala)
c.2167C>G (p.Pro723Ala)
c.2086C>G (p.Pro696Ala)
n.2470C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18613217C>TCA412368229CDKL5c.2218C>T (p.Pro740Ser)
c.2167C>T (p.Pro723Ser)
c.2086C>T (p.Pro696Ser)
n.2470C>T
Xg.18613218C>ACA412368233CDKL5c.2219C>A (p.Pro740Gln)
c.2168C>A (p.Pro723Gln)
c.2087C>A (p.Pro696Gln)
n.2471C>A
Xg.18613218C>GCA412368237CDKL5c.2219C>G (p.Pro740Arg)
c.2168C>G (p.Pro723Arg)
c.2087C>G (p.Pro696Arg)
n.2471C>G
Xg.18613218C>TCA412368240CDKL5c.2219C>T (p.Pro740Leu)
c.2168C>T (p.Pro723Leu)
c.2087C>T (p.Pro696Leu)
n.2471C>T
 ClinVar dbSNP
Xg.18613219delCA2579563002CDKL5c.2220del (p.Ser741GlnfsTer?)
c.2169del (p.Ser724GlnfsTer?)
c.2088del (p.Ser697GlnfsTer?)
n.2472del
Xg.18613219A=CA2417977347CDKL5c.2220A= (p.Pro740=)
c.2169A= (p.Pro723=)
c.2088A= (p.Pro696=)
n.2472A=
Xg.18613219A>CCA515473269CDKL5c.2220A>C (p.Pro740=)
c.2169A>C (p.Pro723=)
c.2088A>C (p.Pro696=)
n.2472A>C
Xg.18613219A>GCA10360512CDKL5c.2220A>G (p.Pro740=)
c.2169A>G (p.Pro723=)
c.2088A>G (p.Pro696=)
n.2472A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613219A>TCA515473272CDKL5c.2220A>T (p.Pro740=)
c.2169A>T (p.Pro723=)
c.2088A>T (p.Pro696=)
n.2472A>T
Xg.18613220T>ACA412368246CDKL5c.2221T>A (p.Ser741Thr)
c.2170T>A (p.Ser724Thr)
c.2089T>A (p.Ser697Thr)
n.2473T>A
Xg.18613220T>CCA412368249CDKL5c.2221T>C (p.Ser741Pro)
c.2170T>C (p.Ser724Pro)
c.2089T>C (p.Ser697Pro)
n.2473T>C
Xg.18613220T>GCA412368250CDKL5c.2221T>G (p.Ser741Ala)
c.2170T>G (p.Ser724Ala)
c.2089T>G (p.Ser697Ala)
n.2473T>G
 gnomAD v4
Xg.18613221C>ACA412368253CDKL5c.2222C>A (p.Ser741Ter)
c.2171C>A (p.Ser724Ter)
c.2090C>A (p.Ser697Ter)
n.2474C>A
Xg.18613221C>GCA412368256CDKL5c.2222C>G (p.Ser741Ter)
c.2171C>G (p.Ser724Ter)
c.2090C>G (p.Ser697Ter)
n.2474C>G
Xg.18613221C>TCA412368261CDKL5c.2222C>T (p.Ser741Leu)
c.2171C>T (p.Ser724Leu)
c.2090C>T (p.Ser697Leu)
n.2474C>T
 COSMIC
Xg.18613222A>CCA515473273CDKL5c.2223A>C (p.Ser741=)
c.2172A>C (p.Ser724=)
c.2091A>C (p.Ser697=)
n.2475A>C
Xg.18613222A>GCA515473278CDKL5c.2223A>G (p.Ser741=)
c.2172A>G (p.Ser724=)
c.2091A>G (p.Ser697=)
n.2475A>G
 gnomAD v4
Xg.18613222A>TCA515473275CDKL5c.2223A>T (p.Ser741=)
c.2172A>T (p.Ser724=)
c.2091A>T (p.Ser697=)
n.2475A>T
Xg.18613226_18613227delCA2580615395CDKL5c.2227_2228del (p.Ser743GlnfsTer20)
c.2176_2177del (p.Ser726GlnfsTer20)
c.2095_2096del (p.Ser699GlnfsTer20)
n.2479_2480del
 ClinVar dbSNP
Xg.18613224_18613227delCA2695231352CDKL5c.2225_2228del (p.Glu742AlafsTer?)
c.2174_2177del (p.Glu725AlafsTer?)
c.2093_2096del (p.Glu698AlafsTer?)
n.2477_2480del
Xg.18613223G>ACA412368266CDKL5c.2224G>A (p.Glu742Lys)
c.2173G>A (p.Glu725Lys)
c.2092G>A (p.Glu698Lys)
n.2476G>A
Xg.18613223G>CCA412368274CDKL5c.2224G>C (p.Glu742Gln)
c.2173G>C (p.Glu725Gln)
c.2092G>C (p.Glu698Gln)
n.2476G>C
Xg.18613223G>TCA412368279CDKL5c.2224G>T (p.Glu742Ter)
c.2173G>T (p.Glu725Ter)
c.2092G>T (p.Glu698Ter)
n.2476G>T
Xg.18613224A>CCA412368283CDKL5c.2225A>C (p.Glu742Ala)
c.2174A>C (p.Glu725Ala)
c.2093A>C (p.Glu698Ala)
n.2477A>C
Xg.18613224A>GCA412368285CDKL5c.2225A>G (p.Glu742Gly)
c.2174A>G (p.Glu725Gly)
c.2093A>G (p.Glu698Gly)
n.2477A>G
Xg.18613224A>TCA412368288CDKL5c.2225A>T (p.Glu742Val)
c.2174A>T (p.Glu725Val)
c.2093A>T (p.Glu698Val)
n.2477A>T
Xg.18613225G>ACA515473280CDKL5c.2226G>A (p.Glu742=)
c.2175G>A (p.Glu725=)
c.2094G>A (p.Glu698=)
n.2478G>A
 COSMIC
Xg.18613225G>CCA412368293CDKL5c.2226G>C (p.Glu742Asp)
c.2175G>C (p.Glu725Asp)
c.2094G>C (p.Glu698Asp)
n.2478G>C
Xg.18613225G>TCA412368291CDKL5c.2226G>T (p.Glu742Asp)
c.2175G>T (p.Glu725Asp)
c.2094G>T (p.Glu698Asp)
n.2478G>T
Xg.18613225_18613260delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACCCA2417977348CDKL5c.2226_2261delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu742=)
c.2175_2210delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu725=)
c.2094_2129delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC (p.Glu698=)
n.2478_2513delinsGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC
Xg.18613226A>CCA412368302CDKL5c.2227A>C (p.Ser743Arg)
c.2176A>C (p.Ser726Arg)
c.2095A>C (p.Ser699Arg)
n.2479A>C
Xg.18613226A>GCA412368304CDKL5c.2227A>G (p.Ser743Gly)
c.2176A>G (p.Ser726Gly)
c.2095A>G (p.Ser699Gly)
n.2479A>G
Xg.18613226A>TCA412368308CDKL5c.2227A>T (p.Ser743Cys)
c.2176A>T (p.Ser726Cys)
c.2095A>T (p.Ser699Cys)
n.2479A>T
Xg.18613230_18613264delCA16621283CDKL5c.2231_2265del (p.Ser744IlefsTer8)
c.2180_2214del (p.Ser727IlefsTer8)
c.2099_2133del (p.Ser700IlefsTer8)
n.2483_2517del
 ClinVar dbSNP
Xg.18613227G>ACA412368311CDKL5c.2228G>A (p.Ser743Asn)
c.2177G>A (p.Ser726Asn)
c.2096G>A (p.Ser699Asn)
n.2480G>A
Xg.18613227G>CCA412368314CDKL5c.2228G>C (p.Ser743Thr)
c.2177G>C (p.Ser726Thr)
c.2096G>C (p.Ser699Thr)
n.2480G>C
Xg.18613227G>TCA412368317CDKL5c.2228G>T (p.Ser743Ile)
c.2177G>T (p.Ser726Ile)
c.2096G>T (p.Ser699Ile)
n.2480G>T
Xg.18613228C>ACA412368318CDKL5c.2229C>A (p.Ser743Arg)
c.2178C>A (p.Ser726Arg)
c.2097C>A (p.Ser699Arg)
n.2481C>A
Xg.18613228C>GCA412368319CDKL5c.2229C>G (p.Ser743Arg)
c.2178C>G (p.Ser726Arg)
c.2097C>G (p.Ser699Arg)
n.2481C>G
Xg.18613228C>TCA515473287CDKL5c.2229C>T (p.Ser743=)
c.2178C>T (p.Ser726=)
c.2097C>T (p.Ser699=)
n.2481C>T
Xg.18613229A>CCA412368320CDKL5c.2230A>C (p.Ser744Arg)
c.2179A>C (p.Ser727Arg)
c.2098A>C (p.Ser700Arg)
n.2482A>C
Xg.18613229A>GCA412368321CDKL5c.2230A>G (p.Ser744Gly)
c.2179A>G (p.Ser727Gly)
c.2098A>G (p.Ser700Gly)
n.2482A>G
Xg.18613229A>TCA412368323CDKL5c.2230A>T (p.Ser744Cys)
c.2179A>T (p.Ser727Cys)
c.2098A>T (p.Ser700Cys)
n.2482A>T
Xg.18613230G>ACA412368326CDKL5c.2231G>A (p.Ser744Asn)
c.2180G>A (p.Ser727Asn)
c.2099G>A (p.Ser700Asn)
n.2483G>A
 gnomAD v4
Xg.18613230G>CCA412368328CDKL5c.2231G>C (p.Ser744Thr)
c.2180G>C (p.Ser727Thr)
c.2099G>C (p.Ser700Thr)
n.2483G>C
Xg.18613230G>TCA412368330CDKL5c.2231G>T (p.Ser744Ile)
c.2180G>T (p.Ser727Ile)
c.2099G>T (p.Ser700Ile)
n.2483G>T
Xg.18613231T>ACA412368332CDKL5c.2232T>A (p.Ser744Arg)
c.2181T>A (p.Ser727Arg)
c.2100T>A (p.Ser700Arg)
n.2484T>A
Xg.18613231T>CCA515473288CDKL5c.2232T>C (p.Ser744=)
c.2181T>C (p.Ser727=)
c.2100T>C (p.Ser700=)
n.2484T>C
Xg.18613231T>GCA412368335CDKL5c.2232T>G (p.Ser744Arg)
c.2181T>G (p.Ser727Arg)
c.2100T>G (p.Ser700Arg)
n.2484T>G
Xg.18613232T>ACA412368339CDKL5c.2233T>A (p.Ser745Thr)
c.2182T>A (p.Ser728Thr)
c.2101T>A (p.Ser701Thr)
n.2485T>A
Xg.18613232T>CCA412368342CDKL5c.2233T>C (p.Ser745Pro)
c.2182T>C (p.Ser728Pro)
c.2101T>C (p.Ser701Pro)
n.2485T>C
Xg.18613232T>GCA412368343CDKL5c.2233T>G (p.Ser745Ala)
c.2182T>G (p.Ser728Ala)
c.2101T>G (p.Ser701Ala)
n.2485T>G
Xg.18613233C>ACA412368345CDKL5c.2234C>A (p.Ser745Tyr)
c.2183C>A (p.Ser728Tyr)
c.2102C>A (p.Ser701Tyr)
n.2486C>A
Xg.18613233C>GCA412368349CDKL5c.2234C>G (p.Ser745Cys)
c.2183C>G (p.Ser728Cys)
c.2102C>G (p.Ser701Cys)
n.2486C>G
Xg.18613233C>TCA412368351CDKL5c.2234C>T (p.Ser745Phe)
c.2183C>T (p.Ser728Phe)
c.2102C>T (p.Ser701Phe)
n.2486C>T
Xg.18613234T>ACA515473289CDKL5c.2235T>A (p.Ser745=)
c.2184T>A (p.Ser728=)
c.2103T>A (p.Ser701=)
n.2487T>A
Xg.18613234T>CCA515473290CDKL5c.2235T>C (p.Ser745=)
c.2184T>C (p.Ser728=)
c.2103T>C (p.Ser701=)
n.2487T>C
Xg.18613234T>GCA515473293CDKL5c.2235T>G (p.Ser745=)
c.2184T>G (p.Ser728=)
c.2103T>G (p.Ser701=)
n.2487T>G
Xg.18613235G>ACA412368355CDKL5c.2236G>A (p.Gly746Arg)
c.2185G>A (p.Gly729Arg)
c.2104G>A (p.Gly702Arg)
n.2488G>A
 ClinVar dbSNP gnomAD v4
Xg.18613235G>CCA412368357CDKL5c.2236G>C (p.Gly746Arg)
c.2185G>C (p.Gly729Arg)
c.2104G>C (p.Gly702Arg)
n.2488G>C
Xg.18613235G=CA2417977349CDKL5c.2236G= (p.Gly746=)
c.2185G= (p.Gly729=)
c.2104G= (p.Gly702=)
n.2488G=
Xg.18613235G>TCA412368360CDKL5c.2236G>T (p.Gly746Ter)
c.2185G>T (p.Gly729Ter)
c.2104G>T (p.Gly702Ter)
n.2488G>T
Xg.18613236G>ACA412368363CDKL5c.2237G>A (p.Gly746Glu)
c.2186G>A (p.Gly729Glu)
c.2105G>A (p.Gly702Glu)
n.2489G>A
Xg.18613236G>CCA412368365CDKL5c.2237G>C (p.Gly746Ala)
c.2186G>C (p.Gly729Ala)
c.2105G>C (p.Gly702Ala)
n.2489G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613236G=CA2417977350CDKL5c.2237G= (p.Gly746=)
c.2186G= (p.Gly729=)
c.2105G= (p.Gly702=)
n.2489G=
Xg.18613236G>TCA412368369CDKL5c.2237G>T (p.Gly746Val)
c.2186G>T (p.Gly729Val)
c.2105G>T (p.Gly702Val)
n.2489G>T
Xg.18613237A>CCA515473294CDKL5c.2238A>C (p.Gly746=)
c.2187A>C (p.Gly729=)
c.2106A>C (p.Gly702=)
n.2490A>C
Xg.18613237A>GCA515473295CDKL5c.2238A>G (p.Gly746=)
c.2187A>G (p.Gly729=)
c.2106A>G (p.Gly702=)
n.2490A>G
Xg.18613237A>TCA515473296CDKL5c.2238A>T (p.Gly746=)
c.2187A>T (p.Gly729=)
c.2106A>T (p.Gly702=)
n.2490A>T
Xg.18613238A>CCA412368379CDKL5c.2239A>C (p.Thr747Pro)
c.2188A>C (p.Thr730Pro)
c.2107A>C (p.Thr703Pro)
n.2491A>C
Xg.18613238A>GCA412368375CDKL5c.2239A>G (p.Thr747Ala)
c.2188A>G (p.Thr730Ala)
c.2107A>G (p.Thr703Ala)
n.2491A>G
Xg.18613238A>TCA412368374CDKL5c.2239A>T (p.Thr747Ser)
c.2188A>T (p.Thr730Ser)
c.2107A>T (p.Thr703Ser)
n.2491A>T
Xg.18613239C>ACA412368384CDKL5c.2240C>A (p.Thr747Asn)
c.2189C>A (p.Thr730Asn)
c.2108C>A (p.Thr703Asn)
n.2492C>A
Xg.18613239C>GCA412368392CDKL5c.2240C>G (p.Thr747Ser)
c.2189C>G (p.Thr730Ser)
c.2108C>G (p.Thr703Ser)
n.2492C>G
Xg.18613239C>TCA412368389CDKL5c.2240C>T (p.Thr747Ile)
c.2189C>T (p.Thr730Ile)
c.2108C>T (p.Thr703Ile)
n.2492C>T
Xg.18613240C>ACA515473300CDKL5c.2241C>A (p.Thr747=)
c.2190C>A (p.Thr730=)
c.2109C>A (p.Thr703=)
n.2493C>A
 gnomAD v4
Xg.18613240C=CA2417977351CDKL5c.2241C= (p.Thr747=)
c.2190C= (p.Thr730=)
c.2109C= (p.Thr703=)
n.2493C=
Xg.18613240C>GCA515473301CDKL5c.2241C>G (p.Thr747=)
c.2190C>G (p.Thr730=)
c.2109C>G (p.Thr703=)
n.2493C>G
Xg.18613240C>TCA10360513CDKL5c.2241C>T (p.Thr747=)
c.2190C>T (p.Thr730=)
c.2109C>T (p.Thr703=)
n.2493C>T
 ClinVar dbSNP ExAC gnomAD v2
Xg.18613241A>CCA412368407CDKL5c.2242A>C (p.Asn748His)
c.2191A>C (p.Asn731His)
c.2110A>C (p.Asn704His)
n.2494A>C
Xg.18613241A>GCA412368399CDKL5c.2242A>G (p.Asn748Asp)
c.2191A>G (p.Asn731Asp)
c.2110A>G (p.Asn704Asp)
n.2494A>G
Xg.18613241A>TCA412368402CDKL5c.2242A>T (p.Asn748Tyr)
c.2191A>T (p.Asn731Tyr)
c.2110A>T (p.Asn704Tyr)
n.2494A>T
Xg.18613242A=CA2417977352CDKL5c.2243A= (p.Asn748=)
c.2192A= (p.Asn731=)
c.2111A= (p.Asn704=)
n.2495A=
Xg.18613242A>CCA412368422CDKL5c.2243A>C (p.Asn748Thr)
c.2192A>C (p.Asn731Thr)
c.2111A>C (p.Asn704Thr)
n.2495A>C
 ClinVar dbSNP
Xg.18613242A>GCA240506CDKL5c.2243A>G (p.Asn748Ser)
c.2192A>G (p.Asn731Ser)
c.2111A>G (p.Asn704Ser)
n.2495A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613242A>TCA412368427CDKL5c.2243A>T (p.Asn748Ile)
c.2192A>T (p.Asn731Ile)
c.2111A>T (p.Asn704Ile)
n.2495A>T
Xg.18613243C>ACA412368430CDKL5c.2244C>A (p.Asn748Lys)
c.2193C>A (p.Asn731Lys)
c.2112C>A (p.Asn704Lys)
n.2496C>A
 COSMIC
Xg.18613243C=CA2417977353CDKL5c.2244C= (p.Asn748=)
c.2193C= (p.Asn731=)
c.2112C= (p.Asn704=)
n.2496C=
Xg.18613243C>GCA412368439CDKL5c.2244C>G (p.Asn748Lys)
c.2193C>G (p.Asn731Lys)
c.2112C>G (p.Asn704Lys)
n.2496C>G
Xg.18613243C>TCA326989729CDKL5c.2244C>T (p.Asn748=)
c.2193C>T (p.Asn731=)
c.2112C>T (p.Asn704=)
n.2496C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613244C>ACA412368449CDKL5c.2245C>A (p.His749Asn)
c.2194C>A (p.His732Asn)
c.2113C>A (p.His705Asn)
n.2497C>A
Xg.18613244C>GCA412368443CDKL5c.2245C>G (p.His749Asp)
c.2194C>G (p.His732Asp)
c.2113C>G (p.His705Asp)
n.2497C>G
Xg.18613244C>TCA412368446CDKL5c.2245C>T (p.His749Tyr)
c.2194C>T (p.His732Tyr)
c.2113C>T (p.His705Tyr)
n.2497C>T
 gnomAD v4
Xg.18613246_18613249dupCA2740092048CDKL5c.2247_2250dup (p.Lys751LeufsTer14)
c.2196_2199dup (p.Lys734LeufsTer14)
c.2115_2118dup (p.Lys707LeufsTer14)
n.2499_2502dup
 ClinVar
Xg.18613245A>CCA412368452CDKL5c.2246A>C (p.His749Pro)
c.2195A>C (p.His732Pro)
c.2114A>C (p.His705Pro)
n.2498A>C
Xg.18613245A>GCA412368455CDKL5c.2246A>G (p.His749Arg)
c.2195A>G (p.His732Arg)
c.2114A>G (p.His705Arg)
n.2498A>G
Xg.18613245A>TCA412368459CDKL5c.2246A>T (p.His749Leu)
c.2195A>T (p.His732Leu)
c.2114A>T (p.His705Leu)
n.2498A>T
Xg.18613246C>ACA412368465CDKL5c.2247C>A (p.His749Gln)
c.2196C>A (p.His732Gln)
c.2115C>A (p.His705Gln)
n.2499C>A
Xg.18613246C>GCA412368466CDKL5c.2247C>G (p.His749Gln)
c.2196C>G (p.His732Gln)
c.2115C>G (p.His705Gln)
n.2499C>G
Xg.18613246C>TCA515473303CDKL5c.2247C>T (p.His749=)
c.2196C>T (p.His732=)
c.2115C>T (p.His705=)
n.2499C>T
Xg.18613247T>ACA412368479CDKL5c.2248T>A (p.Ser750Thr)
c.2197T>A (p.Ser733Thr)
c.2116T>A (p.Ser706Thr)
n.2500T>A
Xg.18613247T>CCA412368471CDKL5c.2248T>C (p.Ser750Pro)
c.2197T>C (p.Ser733Pro)
c.2116T>C (p.Ser706Pro)
n.2500T>C
Xg.18613247T>GCA412368475CDKL5c.2248T>G (p.Ser750Ala)
c.2197T>G (p.Ser733Ala)
c.2116T>G (p.Ser706Ala)
n.2500T>G
Xg.18613248C>ACA412368483CDKL5c.2249C>A (p.Ser750Ter)
c.2198C>A (p.Ser733Ter)
c.2117C>A (p.Ser706Ter)
n.2501C>A
Xg.18613248C=CA2417977354CDKL5c.2249C= (p.Ser750=)
c.2198C= (p.Ser733=)
c.2117C= (p.Ser706=)
n.2501C=
Xg.18613248C>GCA412368486CDKL5c.2249C>G (p.Ser750Ter)
c.2198C>G (p.Ser733Ter)
c.2117C>G (p.Ser706Ter)
n.2501C>G
Xg.18613248C>TCA412368489CDKL5c.2249C>T (p.Ser750Leu)
c.2198C>T (p.Ser733Leu)
c.2117C>T (p.Ser706Leu)
n.2501C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18613249A>CCA515473307CDKL5c.2250A>C (p.Ser750=)
c.2199A>C (p.Ser733=)
c.2118A>C (p.Ser706=)
n.2502A>C
Xg.18613249A>GCA515473308CDKL5c.2250A>G (p.Ser750=)
c.2199A>G (p.Ser733=)
c.2118A>G (p.Ser706=)
n.2502A>G
Xg.18613249A>TCA515473309CDKL5c.2250A>T (p.Ser750=)
c.2199A>T (p.Ser733=)
c.2118A>T (p.Ser706=)
n.2502A>T
Xg.18613253dupCA294687CDKL5c.2254dup (p.Arg752LysfsTer12)
c.2203dup (p.Arg735LysfsTer12)
c.2122dup (p.Arg708LysfsTer12)
n.2506dup
 ClinVar dbSNP
Xg.18613250A>CCA412368492CDKL5c.2251A>C (p.Lys751Gln)
c.2200A>C (p.Lys734Gln)
c.2119A>C (p.Lys707Gln)
n.2503A>C
Xg.18613250A>GCA412368495CDKL5c.2251A>G (p.Lys751Glu)
c.2200A>G (p.Lys734Glu)
c.2119A>G (p.Lys707Glu)
n.2503A>G
Xg.18613250A>TCA412368499CDKL5c.2251A>T (p.Lys751Ter)
c.2200A>T (p.Lys734Ter)
c.2119A>T (p.Lys707Ter)
n.2503A>T
Xg.18613251A=CA2417977355CDKL5c.2252A= (p.Lys751=)
c.2201A= (p.Lys734=)
c.2120A= (p.Lys707=)
n.2504A=
Xg.18613251A>CCA412368500CDKL5c.2252A>C (p.Lys751Thr)
c.2201A>C (p.Lys734Thr)
c.2120A>C (p.Lys707Thr)
n.2504A>C
Xg.18613251A>GCA412368501CDKL5c.2252A>G (p.Lys751Arg)
c.2201A>G (p.Lys734Arg)
c.2120A>G (p.Lys707Arg)
n.2504A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18613251A>TCA412368502CDKL5c.2252A>T (p.Lys751Ile)
c.2201A>T (p.Lys734Ile)
c.2120A>T (p.Lys707Ile)
n.2504A>T
Xg.18613252A>CCA412368503CDKL5c.2253A>C (p.Lys751Asn)
c.2202A>C (p.Lys734Asn)
c.2121A>C (p.Lys707Asn)
n.2505A>C
Xg.18613252A>GCA515473313CDKL5c.2253A>G (p.Lys751=)
c.2202A>G (p.Lys734=)
c.2121A>G (p.Lys707=)
n.2505A>G
Xg.18613252A>TCA412368505CDKL5c.2253A>T (p.Lys751Asn)
c.2202A>T (p.Lys734Asn)
c.2121A>T (p.Lys707Asn)
n.2505A>T
Xg.18613254_18613258dupCA2740092049CDKL5c.2255_2259dup (p.Pro754AspfsTer?)
c.2204_2208dup (p.Pro737AspfsTer?)
c.2123_2127dup (p.Pro710AspfsTer?)
n.2507_2511dup
 ClinVar
Xg.18613252_18613260delinsAAGACAACCCA2417977356CDKL5c.2253_2261delinsAAGACAACC (p.Lys751=)
c.2202_2210delinsAAGACAACC (p.Lys734=)
c.2121_2129delinsAAGACAACC (p.Lys707=)
n.2505_2513delinsAAGACAACC
Xg.18613253A>CCA515473314CDKL5c.2254A>C (p.Arg752=)
c.2203A>C (p.Arg735=)
c.2122A>C (p.Arg708=)
n.2506A>C
Xg.18613253A>GCA412368507CDKL5c.2254A>G (p.Arg752Gly)
c.2203A>G (p.Arg735Gly)
c.2122A>G (p.Arg708Gly)
n.2506A>G
Xg.18613253A>TCA412368510CDKL5c.2254A>T (p.Arg752Ter)
c.2203A>T (p.Arg735Ter)
c.2122A>T (p.Arg708Ter)
n.2506A>T
Xg.18613255_18613262delCA1139667251CDKL5c.2256_2263del (p.Arg752SerfsTer9)
c.2205_2212del (p.Arg735SerfsTer9)
c.2124_2131del (p.Arg708SerfsTer9)
n.2508_2515del
 ClinVar dbSNP
Xg.18613254G>ACA412368516CDKL5c.2255G>A (p.Arg752Lys)
c.2204G>A (p.Arg735Lys)
c.2123G>A (p.Arg708Lys)
n.2507G>A
Xg.18613254G>CCA412368522CDKL5c.2255G>C (p.Arg752Thr)
c.2204G>C (p.Arg735Thr)
c.2123G>C (p.Arg708Thr)
n.2507G>C
Xg.18613254G>TCA412368519CDKL5c.2255G>T (p.Arg752Ile)
c.2204G>T (p.Arg735Ile)
c.2123G>T (p.Arg708Ile)
n.2507G>T
Xg.18613255A=CA2417977357CDKL5c.2256A= (p.Arg752=)
c.2205A= (p.Arg735=)
c.2124A= (p.Arg708=)
n.2508A=
Xg.18613255A>CCA412368525CDKL5c.2256A>C (p.Arg752Ser)
c.2205A>C (p.Arg735Ser)
c.2124A>C (p.Arg708Ser)
n.2508A>C
Xg.18613255A>GCA10360514CDKL5c.2256A>G (p.Arg752=)
c.2205A>G (p.Arg735=)
c.2124A>G (p.Arg708=)
n.2508A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613255A>TCA412368531CDKL5c.2256A>T (p.Arg752Ser)
c.2205A>T (p.Arg735Ser)
c.2124A>T (p.Arg708Ser)
n.2508A>T
Xg.18613256C>ACA412368534CDKL5c.2257C>A (p.Gln753Lys)
c.2206C>A (p.Gln736Lys)
c.2125C>A (p.Gln709Lys)
n.2509C>A
Xg.18613256C>GCA412368535CDKL5c.2257C>G (p.Gln753Glu)
c.2206C>G (p.Gln736Glu)
c.2125C>G (p.Gln709Glu)
n.2509C>G
Xg.18613256C>TCA412368536CDKL5c.2257C>T (p.Gln753Ter)
c.2206C>T (p.Gln736Ter)
c.2125C>T (p.Gln709Ter)
n.2509C>T
Xg.18613257A>CCA412368541CDKL5c.2258A>C (p.Gln753Pro)
c.2207A>C (p.Gln736Pro)
c.2126A>C (p.Gln709Pro)
n.2510A>C
Xg.18613257A>GCA412368537CDKL5c.2258A>G (p.Gln753Arg)
c.2207A>G (p.Gln736Arg)
c.2126A>G (p.Gln709Arg)
n.2510A>G
Xg.18613257A>TCA412368538CDKL5c.2258A>T (p.Gln753Leu)
c.2207A>T (p.Gln736Leu)
c.2126A>T (p.Gln709Leu)
n.2510A>T
Xg.18613258A=CA2417977358CDKL5c.2259A= (p.Gln753=)
c.2208A= (p.Gln736=)
c.2127A= (p.Gln709=)
n.2511A=
Xg.18613258A>CCA412368544CDKL5c.2259A>C (p.Gln753His)
c.2208A>C (p.Gln736His)
c.2127A>C (p.Gln709His)
n.2511A>C
Xg.18613258A>GCA515473318CDKL5c.2259A>G (p.Gln753=)
c.2208A>G (p.Gln736=)
c.2127A>G (p.Gln709=)
n.2511A>G
 gnomAD v4
Xg.18613258A>TCA412368546CDKL5c.2259A>T (p.Gln753His)
c.2208A>T (p.Gln736His)
c.2127A>T (p.Gln709His)
n.2511A>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18613259C>ACA412368565CDKL5c.2260C>A (p.Pro754Thr)
c.2209C>A (p.Pro737Thr)
c.2128C>A (p.Pro710Thr)
n.2512C>A
Xg.18613259C>GCA412368567CDKL5c.2260C>G (p.Pro754Ala)
c.2209C>G (p.Pro737Ala)
c.2128C>G (p.Pro710Ala)
n.2512C>G
Xg.18613259C>TCA412368570CDKL5c.2260C>T (p.Pro754Ser)
c.2209C>T (p.Pro737Ser)
c.2128C>T (p.Pro710Ser)
n.2512C>T
Xg.18613260C>ACA412368574CDKL5c.2261C>A (p.Pro754Gln)
c.2210C>A (p.Pro737Gln)
c.2129C>A (p.Pro710Gln)
n.2513C>A
Xg.18613260C>GCA412368579CDKL5c.2261C>G (p.Pro754Arg)
c.2210C>G (p.Pro737Arg)
c.2129C>G (p.Pro710Arg)
n.2513C>G
Xg.18613260C>TCA412368577CDKL5c.2261C>T (p.Pro754Leu)
c.2210C>T (p.Pro737Leu)
c.2129C>T (p.Pro710Leu)
n.2513C>T
Xg.18613261A>CCA515473322CDKL5c.2262A>C (p.Pro754=)
c.2211A>C (p.Pro737=)
c.2130A>C (p.Pro710=)
n.2514A>C
Xg.18613261A>GCA515473323CDKL5c.2262A>G (p.Pro754=)
c.2211A>G (p.Pro737=)
c.2130A>G (p.Pro710=)
n.2514A>G
Xg.18613261A>TCA515473324CDKL5c.2262A>T (p.Pro754=)
c.2211A>T (p.Pro737=)
c.2130A>T (p.Pro710=)
n.2514A>T
Xg.18613262G>ACA412368583CDKL5c.2263G>A (p.Ala755Thr)
c.2212G>A (p.Ala738Thr)
c.2131G>A (p.Ala711Thr)
n.2515G>A
Xg.18613262G>CCA412368590CDKL5c.2263G>C (p.Ala755Pro)
c.2212G>C (p.Ala738Pro)
c.2131G>C (p.Ala711Pro)
n.2515G>C
Xg.18613262G>TCA412368594CDKL5c.2263G>T (p.Ala755Ser)
c.2212G>T (p.Ala738Ser)
c.2131G>T (p.Ala711Ser)
n.2515G>T
Xg.18613263C>ACA412368598CDKL5c.2264C>A (p.Ala755Glu)
c.2213C>A (p.Ala738Glu)
c.2132C>A (p.Ala711Glu)
n.2516C>A
Xg.18613263C>GCA412368600CDKL5c.2264C>G (p.Ala755Gly)
c.2213C>G (p.Ala738Gly)
c.2132C>G (p.Ala711Gly)
n.2516C>G
Xg.18613263C>TCA412368603CDKL5c.2264C>T (p.Ala755Val)
c.2213C>T (p.Ala738Val)
c.2132C>T (p.Ala711Val)
n.2516C>T
Xg.18613264A=CA2417977359CDKL5c.2265A= (p.Ala755=)
c.2214A= (p.Ala738=)
c.2133A= (p.Ala711=)
n.2517A=
Xg.18613264A>CCA515473325CDKL5c.2265A>C (p.Ala755=)
c.2214A>C (p.Ala738=)
c.2133A>C (p.Ala711=)
n.2517A>C
Xg.18613264A>GCA515473327CDKL5c.2265A>G (p.Ala755=)
c.2214A>G (p.Ala738=)
c.2133A>G (p.Ala711=)
n.2517A>G
Xg.18613264A>TCA233655CDKL5c.2265A>T (p.Ala755=)
c.2214A>T (p.Ala738=)
c.2133A>T (p.Ala711=)
n.2517A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18613265T>ACA412368614CDKL5c.2266T>A (p.Phe756Ile)
c.2215T>A (p.Phe739Ile)
c.2134T>A (p.Phe712Ile)
n.2518T>A
Xg.18613265T>CCA412368622CDKL5c.2266T>C (p.Phe756Leu)
c.2215T>C (p.Phe739Leu)
c.2134T>C (p.Phe712Leu)
n.2518T>C
Xg.18613265T>GCA412368625CDKL5c.2266T>G (p.Phe756Val)
c.2215T>G (p.Phe739Val)
c.2134T>G (p.Phe712Val)
n.2518T>G
Xg.18613266T>ACA412368646CDKL5c.2267T>A (p.Phe756Tyr)
c.2216T>A (p.Phe739Tyr)
c.2135T>A (p.Phe712Tyr)
n.2519T>A
Xg.18613266T>CCA412368654CDKL5c.2267T>C (p.Phe756Ser)
c.2216T>C (p.Phe739Ser)
c.2135T>C (p.Phe712Ser)
n.2519T>C
Xg.18613266T>GCA412368648CDKL5c.2267T>G (p.Phe756Cys)
c.2216T>G (p.Phe739Cys)
c.2135T>G (p.Phe712Cys)
n.2519T>G
Xg.18613267C>ACA412368659CDKL5c.2268C>A (p.Phe756Leu)
c.2217C>A (p.Phe739Leu)
c.2136C>A (p.Phe712Leu)
n.2520C>A
 gnomAD v4
Xg.18613267C>GCA412368660CDKL5c.2268C>G (p.Phe756Leu)
c.2217C>G (p.Phe739Leu)
c.2136C>G (p.Phe712Leu)
n.2520C>G
Xg.18613267C>TCA515473330CDKL5c.2268C>T (p.Phe756=)
c.2217C>T (p.Phe739=)
c.2136C>T (p.Phe712=)
n.2520C>T
 ClinVar gnomAD v4
Xg.18613268G>ACA10360515CDKL5c.2269G>A (p.Asp757Asn)
c.2218G>A (p.Asp740Asn)
c.2137G>A (p.Asp713Asn)
n.2521G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.18613268G>CCA412368666CDKL5c.2269G>C (p.Asp757His)
c.2218G>C (p.Asp740His)
c.2137G>C (p.Asp713His)
n.2521G>C
Xg.18613268G=CA2417977360CDKL5c.2269G= (p.Asp757=)
c.2218G= (p.Asp740=)
c.2137G= (p.Asp713=)
n.2521G=
Xg.18613268G>TCA412368669CDKL5c.2269G>T (p.Asp757Tyr)
c.2218G>T (p.Asp740Tyr)
c.2137G>T (p.Asp713Tyr)
n.2521G>T
 gnomAD v4
Xg.18613269A>CCA412368674CDKL5c.2270A>C (p.Asp757Ala)
c.2219A>C (p.Asp740Ala)
c.2138A>C (p.Asp713Ala)
n.2522A>C
Xg.18613269A>GCA412368676CDKL5c.2270A>G (p.Asp757Gly)
c.2219A>G (p.Asp740Gly)
c.2138A>G (p.Asp713Gly)
n.2522A>G
Xg.18613269A>TCA412368681CDKL5c.2270A>T (p.Asp757Val)
c.2219A>T (p.Asp740Val)
c.2138A>T (p.Asp713Val)
n.2522A>T
Xg.18613270T>ACA412368685CDKL5c.2271T>A (p.Asp757Glu)
c.2220T>A (p.Asp740Glu)
c.2139T>A (p.Asp713Glu)
n.2523T>A
Xg.18613270T>CCA10360516CDKL5c.2271T>C (p.Asp757=)
c.2220T>C (p.Asp740=)
c.2139T>C (p.Asp713=)
n.2523T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18613270T>GCA412368699CDKL5c.2271T>G (p.Asp757Glu)
c.2220T>G (p.Asp740Glu)
c.2139T>G (p.Asp713Glu)
n.2523T>G
Xg.18613270T=CA2417977361CDKL5c.2271T= (p.Asp757=)
c.2220T= (p.Asp740=)
c.2139T= (p.Asp713=)
n.2523T=
Xg.18613271C>ACA412368704CDKL5c.2272C>A (p.Pro758Thr)
c.2221C>A (p.Pro741Thr)
c.2140C>A (p.Pro714Thr)
n.2524C>A
 gnomAD v4
Xg.18613271C=CA2417977362CDKL5c.2272C= (p.Pro758=)
c.2221C= (p.Pro741=)
c.2140C= (p.Pro714=)
n.2524C=
Xg.18613271C>GCA412368707CDKL5c.2272C>G (p.Pro758Ala)
c.2221C>G (p.Pro741Ala)
c.2140C>G (p.Pro714Ala)
n.2524C>G
 gnomAD v4
Xg.18613271C>TCA412368712CDKL5c.2272C>T (p.Pro758Ser)
c.2221C>T (p.Pro741Ser)
c.2140C>T (p.Pro714Ser)
n.2524C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18613272C>ACA412368720CDKL5c.2273C>A (p.Pro758Gln)
c.2222C>A (p.Pro741Gln)
c.2141C>A (p.Pro714Gln)
n.2525C>A
 gnomAD v4
Xg.18613272C>GCA412368716CDKL5c.2273C>G (p.Pro758Arg)
c.2222C>G (p.Pro741Arg)
c.2141C>G (p.Pro714Arg)
n.2525C>G
Xg.18613272C>TCA412368718CDKL5c.2273C>T (p.Pro758Leu)
c.2222C>T (p.Pro741Leu)
c.2141C>T (p.Pro714Leu)
n.2525C>T
Xg.18613273A>CCA515473338CDKL5c.2274A>C (p.Pro758=)
c.2223A>C (p.Pro741=)
c.2142A>C (p.Pro714=)
n.2526A>C
Xg.18613273A>GCA515473340CDKL5c.2274A>G (p.Pro758=)
c.2223A>G (p.Pro741=)
c.2142A>G (p.Pro714=)
n.2526A>G
Xg.18613273A>TCA515473339CDKL5c.2274A>T (p.Pro758=)
c.2223A>T (p.Pro741=)
c.2142A>T (p.Pro714=)
n.2526A>T
Xg.18613274T>ACA412368725CDKL5c.2275T>A (p.Trp759Arg)
c.2224T>A (p.Trp742Arg)
c.2143T>A (p.Trp715Arg)
n.2527T>A
Xg.18613274T>CCA412368728CDKL5c.2275T>C (p.Trp759Arg)
c.2224T>C (p.Trp742Arg)
c.2143T>C (p.Trp715Arg)
n.2527T>C
 gnomAD v4
Xg.18613274T>GCA412368734CDKL5c.2275T>G (p.Trp759Gly)
c.2224T>G (p.Trp742Gly)
c.2143T>G (p.Trp715Gly)
n.2527T>G
Xg.18613275G>ACA412368737CDKL5c.2276G>A (p.Trp759Ter)
c.2225G>A (p.Trp742Ter)
c.2144G>A (p.Trp715Ter)
n.2528G>A
Xg.18613275G>CCA412368738CDKL5c.2276G>C (p.Trp759Ser)
c.2225G>C (p.Trp742Ser)
c.2144G>C (p.Trp715Ser)
n.2528G>C
Xg.18613275G>TCA412368741CDKL5c.2276G>T (p.Trp759Leu)
c.2225G>T (p.Trp742Leu)
c.2144G>T (p.Trp715Leu)
n.2528G>T
 COSMIC
Xg.18613276G>ACA412368748CDKL5c.2276+1G>A (n.2276+1G>A)
c.2225+1G>A (n.2225+1G>A)
c.2144+1G>A (n.2144+1G>A)
n.2528+1G>A
 ClinVar
Xg.18613276G>CCA412368750CDKL5c.2276+1G>C (n.2276+1G>C)
c.2225+1G>C (n.2225+1G>C)
c.2144+1G>C (n.2144+1G>C)
n.2528+1G>C
Xg.18613276G=CA2417977363CDKL5c.2276+1G= (n.2276+1G=)
c.2225+1G= (n.2225+1G=)
c.2144+1G= (n.2144+1G=)
n.2528+1G=
Xg.18613276G>TCA412368754CDKL5c.2276+1G>T (n.2276+1G>T)
c.2225+1G>T (n.2225+1G>T)
c.2144+1G>T (n.2144+1G>T)
n.2528+1G>T
 ClinVar
Xg.18613277T>ACA412368757CDKL5c.2276+2T>A (n.2276+2T>A)
c.2225+2T>A (n.2225+2T>A)
c.2144+2T>A (n.2144+2T>A)
n.2528+2T>A
Xg.18613277T>CCA412368758CDKL5c.2276+2T>C (n.2276+2T>C)
c.2225+2T>C (n.2225+2T>C)
c.2144+2T>C (n.2144+2T>C)
n.2528+2T>C
Xg.18613277T>GCA412368761CDKL5c.2276+2T>G (n.2276+2T>G)
c.2225+2T>G (n.2225+2T>G)
c.2144+2T>G (n.2144+2T>G)
n.2528+2T>G
Xg.18613278G>TCA2819901376CDKL5c.2276+3G>T (n.2276+3G>T)
c.2225+3G>T (n.2225+3G>T)
c.2144+3G>T (n.2144+3G>T)
n.2528+3G>T
Xg.18613280G>ACA2693223148CDKL5c.2276+5G>A (n.2276+5G>A)
c.2225+5G>A (n.2225+5G>A)
c.2144+5G>A (n.2144+5G>A)
n.2528+5G>A
 gnomAD v4
Xg.18613281C>TCA2693223149CDKL5c.2276+6C>T (n.2276+6C>T)
c.2225+6C>T (n.2225+6C>T)
c.2144+6C>T (n.2144+6C>T)
n.2528+6C>T
 gnomAD v4
Xg.18613283T>GCA2693223150CDKL5c.2276+8T>G (n.2276+8T>G)
c.2225+8T>G (n.2225+8T>G)
c.2144+8T>G (n.2144+8T>G)
n.2528+8T>G
 gnomAD v4
Xg.18613284T>ACA2741734602CDKL5c.2276+9T>A (n.2276+9T>A)
c.2225+9T>A (n.2225+9T>A)
c.2144+9T>A (n.2144+9T>A)
n.2528+9T>A
Xg.18613284T>GCA658799611CDKL5c.2276+9T>G (n.2276+9T>G)
c.2225+9T>G (n.2225+9T>G)
c.2144+9T>G (n.2144+9T>G)
n.2528+9T>G
 ClinVar dbSNP gnomAD v4
Xg.18613284T=CA2417977364CDKL5c.2276+9T= (n.2276+9T=)
c.2225+9T= (n.2225+9T=)
c.2144+9T= (n.2144+9T=)
n.2528+9T=
Xg.18613285T>GCA2693223151CDKL5c.2276+10T>G (n.2276+10T>G)
c.2225+10T>G (n.2225+10T>G)
c.2144+10T>G (n.2144+10T>G)
n.2528+10T>G
 gnomAD v4
Xg.18613287G>CCA10360517CDKL5c.2276+12G>C (n.2276+12G>C)
c.2225+12G>C (n.2225+12G>C)
c.2144+12G>C (n.2144+12G>C)
n.2528+12G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18613287G=CA2417977365CDKL5c.2276+12G= (n.2276+12G=)
c.2225+12G= (n.2225+12G=)
c.2144+12G= (n.2144+12G=)
n.2528+12G=
Xg.18613288_18613289delinsGTCA2417977366CDKL5c.2276+13_2276+14delinsGT (n.2276+13_2276+14delinsGT)
c.2225+13_2225+14delinsGT (n.2225+13_2225+14delinsGT)
c.2144+13_2144+14delinsGT (n.2144+13_2144+14delinsGT)
n.2528+13_2528+14delinsGT
Xg.18613291delCA2417977367CDKL5c.2276+16del (n.2276+16del)
c.2225+16del (n.2225+16del)
c.2144+16del (n.2144+16del)
n.2528+16del
 dbSNP
Xg.18613292G>ACA640513742CDKL5c.2276+17G>A (n.2276+17G>A)
c.2225+17G>A (n.2225+17G>A)
c.2144+17G>A (n.2144+17G>A)
n.2528+17G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18613292G>CCA10360518CDKL5c.2276+17G>C (n.2276+17G>C)
c.2225+17G>C (n.2225+17G>C)
c.2144+17G>C (n.2144+17G>C)
n.2528+17G>C
 dbSNP ExAC gnomAD v2
Xg.18613292G=CA2417977368CDKL5c.2276+17G= (n.2276+17G=)
c.2225+17G= (n.2225+17G=)
c.2144+17G= (n.2144+17G=)
n.2528+17G=
Xg.18613292G>TCA2819901378CDKL5c.2276+17G>T (n.2276+17G>T)
c.2225+17G>T (n.2225+17G>T)
c.2144+17G>T (n.2144+17G>T)
n.2528+17G>T

Number of alleles fetched