Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18628530A>CCA412367715CDKL5c.2656A>C (p.Ser886Arg)
c.2779A>C (p.Ser927Arg)
c.2728A>C (p.Ser910Arg)
c.2647A>C (p.Ser883Arg)
n.3031A>C
Xg.18628530A>GCA412367717CDKL5c.2656A>G (p.Ser886Gly)
c.2779A>G (p.Ser927Gly)
c.2728A>G (p.Ser910Gly)
c.2647A>G (p.Ser883Gly)
n.3031A>G
Xg.18628530A>TCA412367719CDKL5c.2656A>T (p.Ser886Cys)
c.2779A>T (p.Ser927Cys)
c.2728A>T (p.Ser910Cys)
c.2647A>T (p.Ser883Cys)
n.3031A>T
Xg.18628531G>ACA412367726CDKL5c.2657G>A (p.Ser886Asn)
c.2780G>A (p.Ser927Asn)
c.2729G>A (p.Ser910Asn)
c.2648G>A (p.Ser883Asn)
n.3032G>A
Xg.18628531G>CCA412367724CDKL5c.2657G>C (p.Ser886Thr)
c.2780G>C (p.Ser927Thr)
c.2729G>C (p.Ser910Thr)
c.2648G>C (p.Ser883Thr)
n.3032G>C
Xg.18628531G>TCA412367722CDKL5c.2657G>T (p.Ser886Ile)
c.2780G>T (p.Ser927Ile)
c.2729G>T (p.Ser910Ile)
c.2648G>T (p.Ser883Ile)
n.3032G>T
Xg.18628532C>ACA412367727CDKL5c.2658C>A (p.Ser886Arg)
c.2781C>A (p.Ser927Arg)
c.2730C>A (p.Ser910Arg)
c.2649C>A (p.Ser883Arg)
n.3033C>A
Xg.18628532C>GCA412367729CDKL5c.2658C>G (p.Ser886Arg)
c.2781C>G (p.Ser927Arg)
c.2730C>G (p.Ser910Arg)
c.2649C>G (p.Ser883Arg)
n.3033C>G
Xg.18628532C>TCA515470810CDKL5c.2658C>T (p.Ser886=)
c.2781C>T (p.Ser927=)
c.2730C>T (p.Ser910=)
c.2649C>T (p.Ser883=)
n.3033C>T
Xg.18628533A>CCA412367732CDKL5c.2659A>C (p.Ser887Arg)
c.2782A>C (p.Ser928Arg)
c.2731A>C (p.Ser911Arg)
c.2650A>C (p.Ser884Arg)
n.3034A>C
Xg.18628533A>GCA412367734CDKL5c.2659A>G (p.Ser887Gly)
c.2782A>G (p.Ser928Gly)
c.2731A>G (p.Ser911Gly)
c.2650A>G (p.Ser884Gly)
n.3034A>G
Xg.18628533A>TCA412367736CDKL5c.2659A>T (p.Ser887Cys)
c.2782A>T (p.Ser928Cys)
c.2731A>T (p.Ser911Cys)
c.2650A>T (p.Ser884Cys)
n.3034A>T
Xg.18628534G>ACA412367739CDKL5c.2660G>A (p.Ser887Asn)
c.2783G>A (p.Ser928Asn)
c.2732G>A (p.Ser911Asn)
c.2651G>A (p.Ser884Asn)
n.3035G>A
Xg.18628534G>CCA412367741CDKL5c.2660G>C (p.Ser887Thr)
c.2783G>C (p.Ser928Thr)
c.2732G>C (p.Ser911Thr)
c.2651G>C (p.Ser884Thr)
n.3035G>C
Xg.18628534G>TCA412367743CDKL5c.2660G>T (p.Ser887Ile)
c.2783G>T (p.Ser928Ile)
c.2732G>T (p.Ser911Ile)
c.2651G>T (p.Ser884Ile)
n.3035G>T
Xg.18628534_18628540delCA2695231353CDKL5c.2660_2666del (p.Ser887ThrfsTer28)
c.2783_2789del (p.Ser928ThrfsTer28)
c.2660_2666del (p.Ser887ThrfsTer?)
c.2732_2738del (p.Ser911ThrfsTer?)
c.2651_2657del (p.Ser884ThrfsTer?)
n.3035_3041del
Xg.18628534_18628543delinsCCCA2695231354CDKL5c.2660_2669delinsCC (p.Ser887ThrfsTer?)
c.2783_2792delinsCC (p.Ser928ThrfsTer?)
c.2660_2669delinsCC (p.Ser887ThrfsTer20)
c.2732_2741delinsCC (p.Ser911ThrfsTer20)
c.2651_2660delinsCC (p.Ser884ThrfsTer20)
n.3035_3044delinsCC
Xg.18628535delCA2528281511CDKL5c.2661del (p.Ser887ArgfsTer30)
c.2784del (p.Ser928ArgfsTer30)
c.2661del (p.Ser887ArgfsTer?)
c.2733del (p.Ser911ArgfsTer?)
c.2652del (p.Ser884ArgfsTer?)
n.3036del
Xg.18628535C>ACA327009058CDKL5c.2661C>A (p.Ser887Arg)
c.2784C>A (p.Ser928Arg)
c.2733C>A (p.Ser911Arg)
c.2652C>A (p.Ser884Arg)
n.3036C>A
 dbSNP
Xg.18628535C=CA2417982210CDKL5c.2661C= (p.Ser887=)
c.2784C= (p.Ser928=)
c.2733C= (p.Ser911=)
c.2652C= (p.Ser884=)
n.3036C=
Xg.18628535C>GCA412367749CDKL5c.2661C>G (p.Ser887Arg)
c.2784C>G (p.Ser928Arg)
c.2733C>G (p.Ser911Arg)
c.2652C>G (p.Ser884Arg)
n.3036C>G
Xg.18628535C>TCA515470818CDKL5c.2661C>T (p.Ser887=)
c.2784C>T (p.Ser928=)
c.2733C>T (p.Ser911=)
c.2652C>T (p.Ser884=)
n.3036C>T
Xg.18628536A>CCA412367752CDKL5c.2662A>C (p.Asn888His)
c.2785A>C (p.Asn929His)
c.2734A>C (p.Asn912His)
c.2653A>C (p.Asn885His)
n.3037A>C
Xg.18628536A>GCA412367754CDKL5c.2662A>G (p.Asn888Asp)
c.2785A>G (p.Asn929Asp)
c.2734A>G (p.Asn912Asp)
c.2653A>G (p.Asn885Asp)
n.3037A>G
Xg.18628536A>TCA412367755CDKL5c.2662A>T (p.Asn888Tyr)
c.2785A>T (p.Asn929Tyr)
c.2734A>T (p.Asn912Tyr)
c.2653A>T (p.Asn885Tyr)
n.3037A>T
Xg.18628537delCA2695231355CDKL5c.2663del (p.Asn888ThrfsTer29)
c.2786del (p.Asn929ThrfsTer29)
c.2663del (p.Asn888ThrfsTer?)
c.2735del (p.Asn912ThrfsTer?)
c.2654del (p.Asn885ThrfsTer?)
n.3038del
Xg.18628537A>CCA412367764CDKL5c.2663A>C (p.Asn888Thr)
c.2786A>C (p.Asn929Thr)
c.2735A>C (p.Asn912Thr)
c.2654A>C (p.Asn885Thr)
n.3038A>C
Xg.18628537A>GCA412367766CDKL5c.2663A>G (p.Asn888Ser)
c.2786A>G (p.Asn929Ser)
c.2735A>G (p.Asn912Ser)
c.2654A>G (p.Asn885Ser)
n.3038A>G
Xg.18628537A>TCA412367759CDKL5c.2663A>T (p.Asn888Ile)
c.2786A>T (p.Asn929Ile)
c.2735A>T (p.Asn912Ile)
c.2654A>T (p.Asn885Ile)
n.3038A>T
Xg.18628538C>ACA412367779CDKL5c.2664C>A (p.Asn888Lys)
c.2787C>A (p.Asn929Lys)
c.2736C>A (p.Asn912Lys)
c.2655C>A (p.Asn885Lys)
n.3039C>A
Xg.18628538C>GCA412367784CDKL5c.2664C>G (p.Asn888Lys)
c.2787C>G (p.Asn929Lys)
c.2736C>G (p.Asn912Lys)
c.2655C>G (p.Asn885Lys)
n.3039C>G
Xg.18628538C>TCA515470836CDKL5c.2664C>T (p.Asn888=)
c.2787C>T (p.Asn929=)
c.2736C>T (p.Asn912=)
c.2655C>T (p.Asn885=)
n.3039C>T
Xg.18628539A>CCA412367793CDKL5c.2665A>C (p.Ile889Leu)
c.2788A>C (p.Ile930Leu)
c.2737A>C (p.Ile913Leu)
c.2656A>C (p.Ile886Leu)
n.3040A>C
Xg.18628539A>GCA412367797CDKL5c.2665A>G (p.Ile889Val)
c.2788A>G (p.Ile930Val)
c.2737A>G (p.Ile913Val)
c.2656A>G (p.Ile886Val)
n.3040A>G
Xg.18628539A>TCA412367803CDKL5c.2665A>T (p.Ile889Phe)
c.2788A>T (p.Ile930Phe)
c.2737A>T (p.Ile913Phe)
c.2656A>T (p.Ile886Phe)
n.3040A>T
Xg.18628540T>ACA412367808CDKL5c.2666T>A (p.Ile889Asn)
c.2789T>A (p.Ile930Asn)
c.2738T>A (p.Ile913Asn)
c.2657T>A (p.Ile886Asn)
n.3041T>A
Xg.18628540T>CCA412367814CDKL5c.2666T>C (p.Ile889Thr)
c.2789T>C (p.Ile930Thr)
c.2738T>C (p.Ile913Thr)
c.2657T>C (p.Ile886Thr)
n.3041T>C
Xg.18628540T>GCA412367818CDKL5c.2666T>G (p.Ile889Ser)
c.2789T>G (p.Ile930Ser)
c.2738T>G (p.Ile913Ser)
c.2657T>G (p.Ile886Ser)
n.3041T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18628540T=CA2417982211CDKL5c.2666T= (p.Ile889=)
c.2789T= (p.Ile930=)
c.2738T= (p.Ile913=)
c.2657T= (p.Ile886=)
n.3041T=
Xg.18628541C>ACA515470850CDKL5c.2667C>A (p.Ile889=)
c.2790C>A (p.Ile930=)
c.2739C>A (p.Ile913=)
c.2658C>A (p.Ile886=)
n.3042C>A
Xg.18628541C=CA2417982212CDKL5c.2667C= (p.Ile889=)
c.2790C= (p.Ile930=)
c.2739C= (p.Ile913=)
c.2658C= (p.Ile886=)
n.3042C=
Xg.18628541C>GCA412367823CDKL5c.2667C>G (p.Ile889Met)
c.2790C>G (p.Ile930Met)
c.2739C>G (p.Ile913Met)
c.2658C>G (p.Ile886Met)
n.3042C>G
Xg.18628541C>TCA515470851CDKL5c.2667C>T (p.Ile889=)
c.2790C>T (p.Ile930=)
c.2739C>T (p.Ile913=)
c.2658C>T (p.Ile886=)
n.3042C>T
 dbSNP
Xg.18628542C>ACA515470853CDKL5c.2668C>A (p.Arg890=)
c.2791C>A (p.Arg931=)
c.2740C>A (p.Arg914=)
c.2659C>A (p.Arg887=)
n.3043C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18628542C=CA2417982213CDKL5c.2668C= (p.Arg890=)
c.2791C= (p.Arg931=)
c.2740C= (p.Arg914=)
c.2659C= (p.Arg887=)
n.3043C=
Xg.18628542C>GCA412367827CDKL5c.2668C>G (p.Arg890Gly)
c.2791C>G (p.Arg931Gly)
c.2740C>G (p.Arg914Gly)
c.2659C>G (p.Arg887Gly)
n.3043C>G
Xg.18628542C>TCA412367828CDKL5c.2668C>T (p.Arg890Trp)
c.2791C>T (p.Arg931Trp)
c.2740C>T (p.Arg914Trp)
c.2659C>T (p.Arg887Trp)
n.3043C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18628543G>ACA327009061CDKL5c.2669G>A (p.Arg890Gln)
c.2792G>A (p.Arg931Gln)
c.2741G>A (p.Arg914Gln)
c.2660G>A (p.Arg887Gln)
n.3044G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628543G>CCA412367838CDKL5c.2669G>C (p.Arg890Pro)
c.2792G>C (p.Arg931Pro)
c.2741G>C (p.Arg914Pro)
c.2660G>C (p.Arg887Pro)
n.3044G>C
Xg.18628543G=CA2417982214CDKL5c.2669G= (p.Arg890=)
c.2792G= (p.Arg931=)
c.2741G= (p.Arg914=)
c.2660G= (p.Arg887=)
n.3044G=
Xg.18628543G>TCA412367834CDKL5c.2669G>T (p.Arg890Leu)
c.2792G>T (p.Arg931Leu)
c.2741G>T (p.Arg914Leu)
c.2660G>T (p.Arg887Leu)
n.3044G>T
 gnomAD v4
Xg.18628543_18628553delinsGGCAGGAACCCCA2417982215CDKL5c.2669_2679delinsGGCAGGAACCC (p.Arg890=)
c.2792_2802delinsGGCAGGAACCC (p.Arg931=)
c.2741_2751delinsGGCAGGAACCC (p.Arg914=)
c.2660_2670delinsGGCAGGAACCC (p.Arg887=)
n.3044_3054delinsGGCAGGAACCC
Xg.18628544G>ACA515470865CDKL5c.2670G>A (p.Arg890=)
c.2793G>A (p.Arg931=)
c.2742G>A (p.Arg914=)
c.2661G>A (p.Arg887=)
n.3045G>A
Xg.18628544G>CCA515470866CDKL5c.2670G>C (p.Arg890=)
c.2793G>C (p.Arg931=)
c.2742G>C (p.Arg914=)
c.2661G>C (p.Arg887=)
n.3045G>C
Xg.18628544G>TCA515470869CDKL5c.2670G>T (p.Arg890=)
c.2793G>T (p.Arg931=)
c.2742G>T (p.Arg914=)
c.2661G>T (p.Arg887=)
n.3045G>T
Xg.18628547_18628556delCA916083849CDKL5c.2673_2682del (p.Gln891HisfsTer23)
c.2796_2805del (p.Gln932HisfsTer23)
c.2673_2682del (p.Gln891HisfsTer?)
c.2745_2754del (p.Gln915HisfsTer?)
c.2664_2673del (p.Gln888HisfsTer?)
n.3048_3057del
 ClinVar dbSNP
Xg.18628545C>ACA412367850CDKL5c.2671C>A (p.Gln891Lys)
c.2794C>A (p.Gln932Lys)
c.2743C>A (p.Gln915Lys)
c.2662C>A (p.Gln888Lys)
n.3046C>A
 COSMIC
Xg.18628545C=CA2417982216CDKL5c.2671C= (p.Gln891=)
c.2794C= (p.Gln932=)
c.2743C= (p.Gln915=)
c.2662C= (p.Gln888=)
n.3046C=
Xg.18628545C>GCA412367853CDKL5c.2671C>G (p.Gln891Glu)
c.2794C>G (p.Gln932Glu)
c.2743C>G (p.Gln915Glu)
c.2662C>G (p.Gln888Glu)
n.3046C>G
 COSMIC
Xg.18628545C>TCA294766CDKL5c.2671C>T (p.Gln891Ter)
c.2794C>T (p.Gln932Ter)
c.2743C>T (p.Gln915Ter)
c.2662C>T (p.Gln888Ter)
n.3046C>T
 ClinVar dbSNP
Xg.18628546A>CCA412367863CDKL5c.2672A>C (p.Gln891Pro)
c.2795A>C (p.Gln932Pro)
c.2744A>C (p.Gln915Pro)
c.2663A>C (p.Gln888Pro)
n.3047A>C
Xg.18628546A>GCA412367866CDKL5c.2672A>G (p.Gln891Arg)
c.2795A>G (p.Gln932Arg)
c.2744A>G (p.Gln915Arg)
c.2663A>G (p.Gln888Arg)
n.3047A>G
Xg.18628546A>TCA412367871CDKL5c.2672A>T (p.Gln891Leu)
c.2795A>T (p.Gln932Leu)
c.2744A>T (p.Gln915Leu)
c.2663A>T (p.Gln888Leu)
n.3047A>T
Xg.18628547G>ACA199339CDKL5c.2673G>A (p.Gln891=)
c.2796G>A (p.Gln932=)
c.2745G>A (p.Gln915=)
c.2664G>A (p.Gln888=)
n.3048G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628547G>CCA412367882CDKL5c.2673G>C (p.Gln891His)
c.2796G>C (p.Gln932His)
c.2745G>C (p.Gln915His)
c.2664G>C (p.Gln888His)
n.3048G>C
Xg.18628547G=CA2417982217CDKL5c.2673G= (p.Gln891=)
c.2796G= (p.Gln932=)
c.2745G= (p.Gln915=)
c.2664G= (p.Gln888=)
n.3048G=
Xg.18628547G>TCA412367898CDKL5c.2673G>T (p.Gln891His)
c.2796G>T (p.Gln932His)
c.2745G>T (p.Gln915His)
c.2664G>T (p.Gln888His)
n.3048G>T
Xg.18628548G>ACA412367906CDKL5c.2674G>A (p.Glu892Lys)
c.2797G>A (p.Glu933Lys)
c.2746G>A (p.Glu916Lys)
c.2665G>A (p.Glu889Lys)
n.3049G>A
Xg.18628548G>CCA412367911CDKL5c.2674G>C (p.Glu892Gln)
c.2797G>C (p.Glu933Gln)
c.2746G>C (p.Glu916Gln)
c.2665G>C (p.Glu889Gln)
n.3049G>C
Xg.18628548G>TCA412367915CDKL5c.2674G>T (p.Glu892Ter)
c.2797G>T (p.Glu933Ter)
c.2746G>T (p.Glu916Ter)
c.2665G>T (p.Glu889Ter)
n.3049G>T
Xg.18628549A>CCA412367930CDKL5c.2675A>C (p.Glu892Ala)
c.2798A>C (p.Glu933Ala)
c.2747A>C (p.Glu916Ala)
c.2666A>C (p.Glu889Ala)
n.3050A>C
Xg.18628549A>GCA412367927CDKL5c.2675A>G (p.Glu892Gly)
c.2798A>G (p.Glu933Gly)
c.2747A>G (p.Glu916Gly)
c.2666A>G (p.Glu889Gly)
n.3050A>G
Xg.18628549A>TCA412367921CDKL5c.2675A>T (p.Glu892Val)
c.2798A>T (p.Glu933Val)
c.2747A>T (p.Glu916Val)
c.2666A>T (p.Glu889Val)
n.3050A>T
Xg.18628550A>CCA412367938CDKL5c.2676A>C (p.Glu892Asp)
c.2799A>C (p.Glu933Asp)
c.2748A>C (p.Glu916Asp)
c.2667A>C (p.Glu889Asp)
n.3051A>C
Xg.18628550A>GCA515470901CDKL5c.2676A>G (p.Glu892=)
c.2799A>G (p.Glu933=)
c.2748A>G (p.Glu916=)
c.2667A>G (p.Glu889=)
n.3051A>G
Xg.18628550A>TCA412367941CDKL5c.2676A>T (p.Glu892Asp)
c.2799A>T (p.Glu933Asp)
c.2748A>T (p.Glu916Asp)
c.2667A>T (p.Glu889Asp)
n.3051A>T
Xg.18628551C>ACA412367948CDKL5c.2677C>A (p.Pro893Thr)
c.2800C>A (p.Pro934Thr)
c.2749C>A (p.Pro917Thr)
c.2668C>A (p.Pro890Thr)
n.3052C>A
Xg.18628551C=CA2417982218CDKL5c.2677C= (p.Pro893=)
c.2800C= (p.Pro934=)
c.2749C= (p.Pro917=)
c.2668C= (p.Pro890=)
n.3052C=
Xg.18628551C>GCA412367956CDKL5c.2677C>G (p.Pro893Ala)
c.2800C>G (p.Pro934Ala)
c.2749C>G (p.Pro917Ala)
c.2668C>G (p.Pro890Ala)
n.3052C>G
Xg.18628551C>TCA10360571CDKL5c.2677C>T (p.Pro893Ser)
c.2800C>T (p.Pro934Ser)
c.2749C>T (p.Pro917Ser)
c.2668C>T (p.Pro890Ser)
n.3052C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628552C>ACA412367963CDKL5c.2678C>A (p.Pro893His)
c.2801C>A (p.Pro934His)
c.2750C>A (p.Pro917His)
c.2669C>A (p.Pro890His)
n.3053C>A
Xg.18628552C>GCA412367969CDKL5c.2678C>G (p.Pro893Arg)
c.2801C>G (p.Pro934Arg)
c.2750C>G (p.Pro917Arg)
c.2669C>G (p.Pro890Arg)
n.3053C>G
Xg.18628552C>TCA412367966CDKL5c.2678C>T (p.Pro893Leu)
c.2801C>T (p.Pro934Leu)
c.2750C>T (p.Pro917Leu)
c.2669C>T (p.Pro890Leu)
n.3053C>T
Xg.18628553C>ACA515470917CDKL5c.2679C>A (p.Pro893=)
c.2802C>A (p.Pro934=)
c.2751C>A (p.Pro917=)
c.2670C>A (p.Pro890=)
n.3054C>A
Xg.18628553C=CA2417982219CDKL5c.2679C= (p.Pro893=)
c.2802C= (p.Pro934=)
c.2751C= (p.Pro917=)
c.2670C= (p.Pro890=)
n.3054C=
Xg.18628553C>GCA515470918CDKL5c.2679C>G (p.Pro893=)
c.2802C>G (p.Pro934=)
c.2751C>G (p.Pro917=)
c.2670C>G (p.Pro890=)
n.3054C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628553C>TCA327009066CDKL5c.2679C>T (p.Pro893=)
c.2802C>T (p.Pro934=)
c.2751C>T (p.Pro917=)
c.2670C>T (p.Pro890=)
n.3054C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18628553_18628554insAAACACACCCAACCA2819912966CDKL5c.2679_2680insAAACACACCCAAC (p.Ala894LysfsTer?)
c.2802_2803insAAACACACCCAAC (p.Ala935LysfsTer?)
c.2679_2680insAAACACACCCAAC (p.Ala894LysfsTer20)
c.2751_2752insAAACACACCCAAC (p.Ala918LysfsTer20)
c.2670_2671insAAACACACCCAAC (p.Ala891LysfsTer20)
n.3054_3055insAAACACACCCAAC
Xg.18628554G>ACA10360572CDKL5c.2680G>A (p.Ala894Thr)
c.2803G>A (p.Ala935Thr)
c.2752G>A (p.Ala918Thr)
c.2671G>A (p.Ala891Thr)
n.3055G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628554G>CCA412367987CDKL5c.2680G>C (p.Ala894Pro)
c.2803G>C (p.Ala935Pro)
c.2752G>C (p.Ala918Pro)
c.2671G>C (p.Ala891Pro)
n.3055G>C
 ClinVar dbSNP gnomAD v4
Xg.18628554G=CA2417982220CDKL5c.2680G= (p.Ala894=)
c.2803G= (p.Ala935=)
c.2752G= (p.Ala918=)
c.2671G= (p.Ala891=)
n.3055G=
Xg.18628554G>TCA412367998CDKL5c.2680G>T (p.Ala894Ser)
c.2803G>T (p.Ala935Ser)
c.2752G>T (p.Ala918Ser)
c.2671G>T (p.Ala891Ser)
n.3055G>T
 ClinVar
Xg.18628555C>ACA412368005CDKL5c.2681C>A (p.Ala894Glu)
c.2804C>A (p.Ala935Glu)
c.2753C>A (p.Ala918Glu)
c.2672C>A (p.Ala891Glu)
n.3056C>A
Xg.18628555C=CA2417982221CDKL5c.2681C= (p.Ala894=)
c.2804C= (p.Ala935=)
c.2753C= (p.Ala918=)
c.2672C= (p.Ala891=)
n.3056C=
Xg.18628555C>GCA412368008CDKL5c.2681C>G (p.Ala894Gly)
c.2804C>G (p.Ala935Gly)
c.2753C>G (p.Ala918Gly)
c.2672C>G (p.Ala891Gly)
n.3056C>G
Xg.18628555C>TCA412368011CDKL5c.2681C>T (p.Ala894Val)
c.2804C>T (p.Ala935Val)
c.2753C>T (p.Ala918Val)
c.2672C>T (p.Ala891Val)
n.3056C>T
 gnomAD v4
Xg.18628556A>CCA515470939CDKL5c.2682A>C (p.Ala894=)
c.2805A>C (p.Ala935=)
c.2754A>C (p.Ala918=)
c.2673A>C (p.Ala891=)
n.3057A>C
Xg.18628556A>GCA515470941CDKL5c.2682A>G (p.Ala894=)
c.2805A>G (p.Ala935=)
c.2754A>G (p.Ala918=)
c.2673A>G (p.Ala891=)
n.3057A>G
Xg.18628556A>TCA515470943CDKL5c.2682A>T (p.Ala894=)
c.2805A>T (p.Ala935=)
c.2754A>T (p.Ala918=)
c.2673A>T (p.Ala891=)
n.3057A>T
Xg.18628556_18628557insGGAACA891843847CDKL5c.2682_2683insGGAA (p.Pro895GlyfsTer?)
c.2805_2806insGGAA (p.Pro936GlyfsTer?)
c.2682_2683insGGAA (p.Pro895GlyfsTer16)
c.2754_2755insGGAA (p.Pro919GlyfsTer16)
c.2673_2674insGGAA (p.Pro892GlyfsTer16)
n.3057_3058insGGAA
 ClinVar dbSNP
Xg.18628556dupCA1139667259CDKL5c.2682dup (p.Pro895ThrfsTer?)
c.2805dup (p.Pro936ThrfsTer?)
c.2682dup (p.Pro895ThrfsTer15)
c.2754dup (p.Pro919ThrfsTer15)
c.2673dup (p.Pro892ThrfsTer15)
n.3057dup
 ClinVar dbSNP
Xg.18628557C>ACA412368014CDKL5c.2683C>A (p.Pro895Thr)
c.2806C>A (p.Pro936Thr)
c.2755C>A (p.Pro919Thr)
c.2674C>A (p.Pro892Thr)
n.3058C>A
 ClinVar
Xg.18628557C>GCA412368017CDKL5c.2683C>G (p.Pro895Ala)
c.2806C>G (p.Pro936Ala)
c.2755C>G (p.Pro919Ala)
c.2674C>G (p.Pro892Ala)
n.3058C>G
Xg.18628557C>TCA412368020CDKL5c.2683C>T (p.Pro895Ser)
c.2806C>T (p.Pro936Ser)
c.2755C>T (p.Pro919Ser)
c.2674C>T (p.Pro892Ser)
n.3058C>T
 ClinVar
Xg.18628558C>ACA412368026CDKL5c.2684C>A (p.Pro895Gln)
c.2807C>A (p.Pro936Gln)
c.2756C>A (p.Pro919Gln)
c.2675C>A (p.Pro892Gln)
n.3059C>A
 COSMIC
Xg.18628558C=CA2417982222CDKL5c.2684C= (p.Pro895=)
c.2807C= (p.Pro936=)
c.2756C= (p.Pro919=)
c.2675C= (p.Pro892=)
n.3059C=
Xg.18628558C>GCA412368035CDKL5c.2684C>G (p.Pro895Arg)
c.2807C>G (p.Pro936Arg)
c.2756C>G (p.Pro919Arg)
c.2675C>G (p.Pro892Arg)
n.3059C>G
Xg.18628558C>TCA294762CDKL5c.2684C>T (p.Pro895Leu)
c.2807C>T (p.Pro936Leu)
c.2756C>T (p.Pro919Leu)
c.2675C>T (p.Pro892Leu)
n.3059C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628559G>ACA515471689CDKL5c.2685G>A (p.Pro895=)
c.2808G>A (p.Pro936=)
c.2757G>A (p.Pro919=)
c.2676G>A (p.Pro892=)
n.3060G>A
 ClinVar gnomAD v4
Xg.18628559G>CCA515471687CDKL5c.2685G>C (p.Pro895=)
c.2808G>C (p.Pro936=)
c.2757G>C (p.Pro919=)
c.2676G>C (p.Pro892=)
n.3060G>C
Xg.18628559G>TCA515471684CDKL5c.2685G>T (p.Pro895=)
c.2808G>T (p.Pro936=)
c.2757G>T (p.Pro919=)
c.2676G>T (p.Pro892=)
n.3060G>T
Xg.18628560A>CCA412368043CDKL5c.2686A>C (p.Lys896Gln)
c.2809A>C (p.Lys937Gln)
c.2758A>C (p.Lys920Gln)
c.2677A>C (p.Lys893Gln)
n.3061A>C
Xg.18628560A>GCA412368046CDKL5c.2686A>G (p.Lys896Glu)
c.2809A>G (p.Lys937Glu)
c.2758A>G (p.Lys920Glu)
c.2677A>G (p.Lys893Glu)
n.3061A>G
Xg.18628560A>TCA412368049CDKL5c.2686A>T (p.Lys896Ter)
c.2809A>T (p.Lys937Ter)
c.2758A>T (p.Lys920Ter)
c.2677A>T (p.Lys893Ter)
n.3061A>T
Xg.18628561A>CCA412368054CDKL5c.2687A>C (p.Lys896Thr)
c.2810A>C (p.Lys937Thr)
c.2759A>C (p.Lys920Thr)
c.2678A>C (p.Lys893Thr)
n.3062A>C
Xg.18628561A>GCA412368057CDKL5c.2687A>G (p.Lys896Arg)
c.2810A>G (p.Lys937Arg)
c.2759A>G (p.Lys920Arg)
c.2678A>G (p.Lys893Arg)
n.3062A>G
Xg.18628561A>TCA412368056CDKL5c.2687A>T (p.Lys896Met)
c.2810A>T (p.Lys937Met)
c.2759A>T (p.Lys920Met)
c.2678A>T (p.Lys893Met)
n.3062A>T
Xg.18628562G>ACA515471702CDKL5c.2688G>A (p.Lys896=)
c.2811G>A (p.Lys937=)
c.2760G>A (p.Lys920=)
c.2679G>A (p.Lys893=)
n.3063G>A
Xg.18628562G>CCA412368058CDKL5c.2688G>C (p.Lys896Asn)
c.2811G>C (p.Lys937Asn)
c.2760G>C (p.Lys920Asn)
c.2679G>C (p.Lys893Asn)
n.3063G>C
Xg.18628562G=CA2417982223CDKL5c.2688G= (p.Lys896=)
c.2811G= (p.Lys937=)
c.2760G= (p.Lys920=)
c.2679G= (p.Lys893=)
n.3063G=
Xg.18628562G>TCA412368059CDKL5c.2688G>T (p.Lys896Asn)
c.2811G>T (p.Lys937Asn)
c.2760G>T (p.Lys920Asn)
c.2679G>T (p.Lys893Asn)
n.3063G>T
 dbSNP
Xg.18628563G>ACA412368064CDKL5c.2689G>A (p.Gly897Ser)
c.2812G>A (p.Gly938Ser)
c.2761G>A (p.Gly921Ser)
c.2680G>A (p.Gly894Ser)
n.3064G>A
Xg.18628563G>CCA412368065CDKL5c.2689G>C (p.Gly897Arg)
c.2812G>C (p.Gly938Arg)
c.2761G>C (p.Gly921Arg)
c.2680G>C (p.Gly894Arg)
n.3064G>C
Xg.18628563G>TCA412368070CDKL5c.2689G>T (p.Gly897Cys)
c.2812G>T (p.Gly938Cys)
c.2761G>T (p.Gly921Cys)
c.2680G>T (p.Gly894Cys)
n.3064G>T
Xg.18628564G>ACA412368071CDKL5c.2690G>A (p.Gly897Asp)
c.2813G>A (p.Gly938Asp)
c.2762G>A (p.Gly921Asp)
c.2681G>A (p.Gly894Asp)
n.3065G>A
Xg.18628564G>CCA412368073CDKL5c.2690G>C (p.Gly897Ala)
c.2813G>C (p.Gly938Ala)
c.2762G>C (p.Gly921Ala)
c.2681G>C (p.Gly894Ala)
n.3065G>C
Xg.18628564G>TCA412368076CDKL5c.2690G>T (p.Gly897Val)
c.2813G>T (p.Gly938Val)
c.2762G>T (p.Gly921Val)
c.2681G>T (p.Gly894Val)
n.3065G>T
Xg.18628565C>ACA515471716CDKL5c.2691C>A (p.Gly897=)
c.2814C>A (p.Gly938=)
c.2763C>A (p.Gly921=)
c.2682C>A (p.Gly894=)
n.3066C>A
Xg.18628565C>GCA515471718CDKL5c.2691C>G (p.Gly897=)
c.2814C>G (p.Gly938=)
c.2763C>G (p.Gly921=)
c.2682C>G (p.Gly894=)
n.3066C>G
Xg.18628565C>TCA515471720CDKL5c.2691C>T (p.Gly897=)
c.2814C>T (p.Gly938=)
c.2763C>T (p.Gly921=)
c.2682C>T (p.Gly894=)
n.3066C>T
Xg.18628566A>CCA515471724CDKL5c.2692A>C (p.Arg898=)
c.2815A>C (p.Arg939=)
c.2764A>C (p.Arg922=)
c.2683A>C (p.Arg895=)
n.3067A>C
Xg.18628566A>GCA412368079CDKL5c.2692A>G (p.Arg898Gly)
c.2815A>G (p.Arg939Gly)
c.2764A>G (p.Arg922Gly)
c.2683A>G (p.Arg895Gly)
n.3067A>G
Xg.18628566A>TCA412368084CDKL5c.2692A>T (p.Arg898Trp)
c.2815A>T (p.Arg939Trp)
c.2764A>T (p.Arg922Trp)
c.2683A>T (p.Arg895Trp)
n.3067A>T
Xg.18628567G>ACA412368094CDKL5c.2693G>A (p.Arg898Lys)
c.2816G>A (p.Arg939Lys)
c.2765G>A (p.Arg922Lys)
c.2684G>A (p.Arg895Lys)
n.3068G>A
Xg.18628567G>CCA412368097CDKL5c.2693G>C (p.Arg898Thr)
c.2816G>C (p.Arg939Thr)
c.2765G>C (p.Arg922Thr)
c.2684G>C (p.Arg895Thr)
n.3068G>C
Xg.18628567G>TCA412368090CDKL5c.2693G>T (p.Arg898Met)
c.2816G>T (p.Arg939Met)
c.2765G>T (p.Arg922Met)
c.2684G>T (p.Arg895Met)
n.3068G>T
Xg.18628567_18628568delCA2573158463CDKL5c.2693_2694del (p.Arg898ThrfsTer30)
c.2816_2817del (p.Arg939ThrfsTer30)
c.2693_2694del (p.Arg898ThrfsTer11)
c.2765_2766del (p.Arg922ThrfsTer11)
c.2684_2685del (p.Arg895ThrfsTer11)
n.3068_3069del
 ClinVar dbSNP
Xg.18628568G>ACA515471739CDKL5c.2694G>A (p.Arg898=)
c.2817G>A (p.Arg939=)
c.2766G>A (p.Arg922=)
c.2685G>A (p.Arg895=)
n.3069G>A
 gnomAD v4
Xg.18628568G>CCA412368101CDKL5c.2694G>C (p.Arg898Ser)
c.2817G>C (p.Arg939Ser)
c.2766G>C (p.Arg922Ser)
c.2685G>C (p.Arg895Ser)
n.3069G>C
Xg.18628568G>TCA412368105CDKL5c.2694G>T (p.Arg898Ser)
c.2817G>T (p.Arg939Ser)
c.2766G>T (p.Arg922Ser)
c.2685G>T (p.Arg895Ser)
n.3069G>T
Xg.18628569C>ACA412368112CDKL5c.2695C>A (p.Pro899Thr)
c.2818C>A (p.Pro940Thr)
c.2767C>A (p.Pro923Thr)
c.2686C>A (p.Pro896Thr)
n.3070C>A
Xg.18628569C>GCA412368115CDKL5c.2695C>G (p.Pro899Ala)
c.2818C>G (p.Pro940Ala)
c.2767C>G (p.Pro923Ala)
c.2686C>G (p.Pro896Ala)
n.3070C>G
 ClinVar gnomAD v4
Xg.18628569C>TCA412368118CDKL5c.2695C>T (p.Pro899Ser)
c.2818C>T (p.Pro940Ser)
c.2767C>T (p.Pro923Ser)
c.2686C>T (p.Pro896Ser)
n.3070C>T
Xg.18628570C>ACA412368127CDKL5c.2696C>A (p.Pro899Gln)
c.2819C>A (p.Pro940Gln)
c.2768C>A (p.Pro923Gln)
c.2687C>A (p.Pro896Gln)
n.3071C>A
 ClinVar dbSNP
Xg.18628570C>GCA412368132CDKL5c.2696C>G (p.Pro899Arg)
c.2819C>G (p.Pro940Arg)
c.2768C>G (p.Pro923Arg)
c.2687C>G (p.Pro896Arg)
n.3071C>G
Xg.18628570C>TCA412368144CDKL5c.2696C>T (p.Pro899Leu)
c.2819C>T (p.Pro940Leu)
c.2768C>T (p.Pro923Leu)
c.2687C>T (p.Pro896Leu)
n.3071C>T
 gnomAD v4
Xg.18628571A>CCA515471754CDKL5c.2697A>C (p.Pro899=)
c.2820A>C (p.Pro940=)
c.2769A>C (p.Pro923=)
c.2688A>C (p.Pro896=)
n.3072A>C
 gnomAD v4
Xg.18628571A>GCA515471756CDKL5c.2697A>G (p.Pro899=)
c.2820A>G (p.Pro940=)
c.2769A>G (p.Pro923=)
c.2688A>G (p.Pro896=)
n.3072A>G
Xg.18628571A>TCA515471757CDKL5c.2697A>T (p.Pro899=)
c.2820A>T (p.Pro940=)
c.2769A>T (p.Pro923=)
c.2688A>T (p.Pro896=)
n.3072A>T
Xg.18628572G>ACA412368152CDKL5c.2698G>A (p.Ala900Thr)
c.2821G>A (p.Ala941Thr)
c.2770G>A (p.Ala924Thr)
c.2689G>A (p.Ala897Thr)
n.3073G>A
Xg.18628572G>CCA412368157CDKL5c.2698G>C (p.Ala900Pro)
c.2821G>C (p.Ala941Pro)
c.2770G>C (p.Ala924Pro)
c.2689G>C (p.Ala897Pro)
n.3073G>C
Xg.18628572G>TCA412368162CDKL5c.2698G>T (p.Ala900Ser)
c.2821G>T (p.Ala941Ser)
c.2770G>T (p.Ala924Ser)
c.2689G>T (p.Ala897Ser)
n.3073G>T
 gnomAD v4
Xg.18628573C>ACA412368171CDKL5c.2699C>A (p.Ala900Asp)
c.2822C>A (p.Ala941Asp)
c.2771C>A (p.Ala924Asp)
c.2690C>A (p.Ala897Asp)
n.3074C>A
Xg.18628573C>GCA412368174CDKL5c.2699C>G (p.Ala900Gly)
c.2822C>G (p.Ala941Gly)
c.2771C>G (p.Ala924Gly)
c.2690C>G (p.Ala897Gly)
n.3074C>G
Xg.18628573C>TCA412368168CDKL5c.2699C>T (p.Ala900Val)
c.2822C>T (p.Ala941Val)
c.2771C>T (p.Ala924Val)
c.2690C>T (p.Ala897Val)
n.3074C>T
Xg.18628575dupCA2695231356CDKL5c.2701dup (p.Leu901ProfsTer28)
c.2824dup (p.Leu942ProfsTer28)
c.2701dup (p.Leu901ProfsTer9)
c.2773dup (p.Leu925ProfsTer9)
c.2692dup (p.Leu898ProfsTer9)
n.3076dup
Xg.18628574C>ACA515471772CDKL5c.2700C>A (p.Ala900=)
c.2823C>A (p.Ala941=)
c.2772C>A (p.Ala924=)
c.2691C>A (p.Ala897=)
n.3075C>A
Xg.18628574C>GCA515471774CDKL5c.2700C>G (p.Ala900=)
c.2823C>G (p.Ala941=)
c.2772C>G (p.Ala924=)
c.2691C>G (p.Ala897=)
n.3075C>G
Xg.18628574C>TCA515471776CDKL5c.2700C>T (p.Ala900=)
c.2823C>T (p.Ala941=)
c.2772C>T (p.Ala924=)
c.2691C>T (p.Ala897=)
n.3075C>T
Xg.18628575C>ACA412368180CDKL5c.2701C>A (p.Leu901Ile)
c.2824C>A (p.Leu942Ile)
c.2773C>A (p.Leu925Ile)
c.2692C>A (p.Leu898Ile)
n.3076C>A
Xg.18628575C>GCA412368183CDKL5c.2701C>G (p.Leu901Val)
c.2824C>G (p.Leu942Val)
c.2773C>G (p.Leu925Val)
c.2692C>G (p.Leu898Val)
n.3076C>G
Xg.18628575C>TCA412368187CDKL5c.2701C>T (p.Leu901Phe)
c.2824C>T (p.Leu942Phe)
c.2773C>T (p.Leu925Phe)
c.2692C>T (p.Leu898Phe)
n.3076C>T
Xg.18628576T>ACA412368194CDKL5c.2702T>A (p.Leu901His)
c.2825T>A (p.Leu942His)
c.2774T>A (p.Leu925His)
c.2693T>A (p.Leu898His)
n.3077T>A
Xg.18628576T>CCA412368197CDKL5c.2702T>C (p.Leu901Pro)
c.2825T>C (p.Leu942Pro)
c.2774T>C (p.Leu925Pro)
c.2693T>C (p.Leu898Pro)
n.3077T>C
Xg.18628576T>GCA412368200CDKL5c.2702T>G (p.Leu901Arg)
c.2825T>G (p.Leu942Arg)
c.2774T>G (p.Leu925Arg)
c.2693T>G (p.Leu898Arg)
n.3077T>G
Xg.18628577C>ACA515471786CDKL5c.2703C>A (p.Leu901=)
c.2826C>A (p.Leu942=)
c.2775C>A (p.Leu925=)
c.2694C>A (p.Leu898=)
n.3078C>A
Xg.18628577C=CA2417982224CDKL5c.2703C= (p.Leu901=)
c.2826C= (p.Leu942=)
c.2775C= (p.Leu925=)
c.2694C= (p.Leu898=)
n.3078C=
Xg.18628577C>GCA515471788CDKL5c.2703C>G (p.Leu901=)
c.2826C>G (p.Leu942=)
c.2775C>G (p.Leu925=)
c.2694C>G (p.Leu898=)
n.3078C>G
Xg.18628577C>TCA515471790CDKL5c.2703C>T (p.Leu901=)
c.2826C>T (p.Leu942=)
c.2775C>T (p.Leu925=)
c.2694C>T (p.Leu898=)
n.3078C>T
 dbSNP
Xg.18628578C>ACA327009072CDKL5c.2704C>A (p.Gln902Lys)
c.2827C>A (p.Gln943Lys)
c.2776C>A (p.Gln926Lys)
c.2695C>A (p.Gln899Lys)
n.3079C>A
 ClinVar dbSNP
Xg.18628578C=CA2417982225CDKL5c.2704C= (p.Gln902=)
c.2827C= (p.Gln943=)
c.2776C= (p.Gln926=)
c.2695C= (p.Gln899=)
n.3079C=
Xg.18628578C>GCA412368221CDKL5c.2704C>G (p.Gln902Glu)
c.2827C>G (p.Gln943Glu)
c.2776C>G (p.Gln926Glu)
c.2695C>G (p.Gln899Glu)
n.3079C>G
Xg.18628578C>TCA199394CDKL5c.2704C>T (p.Gln902Ter)
c.2827C>T (p.Gln943Ter)
c.2776C>T (p.Gln926Ter)
c.2695C>T (p.Gln899Ter)
n.3079C>T
 ClinVar dbSNP
Xg.18628579A>CCA412368228CDKL5c.2705A>C (p.Gln902Pro)
c.2828A>C (p.Gln943Pro)
c.2777A>C (p.Gln926Pro)
c.2696A>C (p.Gln899Pro)
n.3080A>C
Xg.18628579A>GCA412368232CDKL5c.2705A>G (p.Gln902Arg)
c.2828A>G (p.Gln943Arg)
c.2777A>G (p.Gln926Arg)
c.2696A>G (p.Gln899Arg)
n.3080A>G
Xg.18628579A>TCA412368236CDKL5c.2705A>T (p.Gln902Leu)
c.2828A>T (p.Gln943Leu)
c.2777A>T (p.Gln926Leu)
c.2696A>T (p.Gln899Leu)
n.3080A>T
Xg.18628580G>ACA515471808CDKL5c.2706G>A (p.Gln902=)
c.2829G>A (p.Gln943=)
c.2778G>A (p.Gln926=)
c.2697G>A (p.Gln899=)
n.3081G>A
Xg.18628580G>CCA412368242CDKL5c.2706G>C (p.Gln902His)
c.2829G>C (p.Gln943His)
c.2778G>C (p.Gln926His)
c.2697G>C (p.Gln899His)
n.3081G>C
Xg.18628580G>TCA412368244CDKL5c.2706G>T (p.Gln902His)
c.2829G>T (p.Gln943His)
c.2778G>T (p.Gln926His)
c.2697G>T (p.Gln899His)
n.3081G>T
 ClinVar
Xg.18628581C>ACA412368251CDKL5c.2707C>A (p.Leu903Met)
c.2830C>A (p.Leu944Met)
c.2779C>A (p.Leu927Met)
c.2698C>A (p.Leu900Met)
n.3082C>A
Xg.18628581C=CA2417982226CDKL5c.2707C= (p.Leu903=)
c.2830C= (p.Leu944=)
c.2779C= (p.Leu927=)
c.2698C= (p.Leu900=)
n.3082C=
Xg.18628581C>GCA412368254CDKL5c.2707C>G (p.Leu903Val)
c.2830C>G (p.Leu944Val)
c.2779C>G (p.Leu927Val)
c.2698C>G (p.Leu900Val)
n.3082C>G
Xg.18628581C>TCA515471816CDKL5c.2707C>T (p.Leu903=)
c.2830C>T (p.Leu944=)
c.2779C>T (p.Leu927=)
c.2698C>T (p.Leu900=)
n.3082C>T
 dbSNP
Xg.18628582T>ACA412368259CDKL5c.2708T>A (p.Leu903Gln)
c.2831T>A (p.Leu944Gln)
c.2780T>A (p.Leu927Gln)
c.2699T>A (p.Leu900Gln)
n.3083T>A
Xg.18628582T>CCA412368263CDKL5c.2708T>C (p.Leu903Pro)
c.2831T>C (p.Leu944Pro)
c.2780T>C (p.Leu927Pro)
c.2699T>C (p.Leu900Pro)
n.3083T>C
Xg.18628582T>GCA412368267CDKL5c.2708T>G (p.Leu903Arg)
c.2831T>G (p.Leu944Arg)
c.2780T>G (p.Leu927Arg)
c.2699T>G (p.Leu900Arg)
n.3083T>G
Xg.18628583G>ACA515471826CDKL5c.2709G>A (p.Leu903=)
c.2832G>A (p.Leu944=)
c.2781G>A (p.Leu927=)
c.2700G>A (p.Leu900=)
n.3084G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18628583G>CCA515471829CDKL5c.2709G>C (p.Leu903=)
c.2832G>C (p.Leu944=)
c.2781G>C (p.Leu927=)
c.2700G>C (p.Leu900=)
n.3084G>C
Xg.18628583G=CA2417982227CDKL5c.2709G= (p.Leu903=)
c.2832G= (p.Leu944=)
c.2781G= (p.Leu927=)
c.2700G= (p.Leu900=)
n.3084G=
Xg.18628583G>TCA515471830CDKL5c.2709G>T (p.Leu903=)
c.2832G>T (p.Leu944=)
c.2781G>T (p.Leu927=)
c.2700G>T (p.Leu900=)
n.3084G>T
Xg.18628584C>ACA412368273CDKL5c.2710C>A (p.Pro904Thr)
c.2833C>A (p.Pro945Thr)
c.2782C>A (p.Pro928Thr)
c.2701C>A (p.Pro901Thr)
n.3085C>A
Xg.18628584C>GCA412368277CDKL5c.2710C>G (p.Pro904Ala)
c.2833C>G (p.Pro945Ala)
c.2782C>G (p.Pro928Ala)
c.2701C>G (p.Pro901Ala)
n.3085C>G
Xg.18628584C>TCA412368281CDKL5c.2710C>T (p.Pro904Ser)
c.2833C>T (p.Pro945Ser)
c.2782C>T (p.Pro928Ser)
c.2701C>T (p.Pro901Ser)
n.3085C>T
Xg.18628585delCA2695231358CDKL5c.2711del (p.Pro904GlnfsTer13)
c.2834del (p.Pro945GlnfsTer13)
c.2711del (p.Pro904GlnfsTer23)
c.2783del (p.Pro928GlnfsTer23)
c.2702del (p.Pro901GlnfsTer23)
n.3086del
Xg.18628585C>ACA412368295CDKL5c.2711C>A (p.Pro904Gln)
c.2834C>A (p.Pro945Gln)
c.2783C>A (p.Pro928Gln)
c.2702C>A (p.Pro901Gln)
n.3086C>A
Xg.18628585C>GCA412368290CDKL5c.2711C>G (p.Pro904Arg)
c.2834C>G (p.Pro945Arg)
c.2783C>G (p.Pro928Arg)
c.2702C>G (p.Pro901Arg)
n.3086C>G
Xg.18628585C>TCA412368287CDKL5c.2711C>T (p.Pro904Leu)
c.2834C>T (p.Pro945Leu)
c.2783C>T (p.Pro928Leu)
c.2702C>T (p.Pro901Leu)
n.3086C>T
Xg.18628586A>CCA515471842CDKL5c.2712A>C (p.Pro904=)
c.2835A>C (p.Pro945=)
c.2784A>C (p.Pro928=)
c.2703A>C (p.Pro901=)
n.3087A>C
Xg.18628586A>GCA515471844CDKL5c.2712A>G (p.Pro904=)
c.2835A>G (p.Pro945=)
c.2784A>G (p.Pro928=)
c.2703A>G (p.Pro901=)
n.3087A>G
Xg.18628586A>TCA515471846CDKL5c.2712A>T (p.Pro904=)
c.2835A>T (p.Pro945=)
c.2784A>T (p.Pro928=)
c.2703A>T (p.Pro901=)
n.3087A>T
Xg.18628587G>ACA412368296CDKL5c.2713G>A (p.Gly905Ser)
c.2836G>A (p.Gly946Ser)
c.2713G>A (p.Asp905Asn)
c.2785G>A (p.Asp929Asn)
c.2704G>A (p.Asp902Asn)
n.3088G>A
 ClinVar gnomAD v4
Xg.18628587G>CCA412368297CDKL5c.2713G>C (p.Gly905Arg)
c.2836G>C (p.Gly946Arg)
c.2713G>C (p.Asp905His)
c.2785G>C (p.Asp929His)
c.2704G>C (p.Asp902His)
n.3088G>C
Xg.18628587G>TCA412368301CDKL5c.2713G>T (p.Gly905Cys)
c.2836G>T (p.Gly946Cys)
c.2713G>T (p.Asp905Tyr)
c.2785G>T (p.Asp929Tyr)
c.2704G>T (p.Asp902Tyr)
n.3088G>T
Xg.18628588G>ACA412368306CDKL5c.2714G>A (p.Gly905Asp)
c.2837G>A (p.Gly946Asp)
c.2713+1G>A (n.2713+1G>A)
c.2785+1G>A (n.2785+1G>A)
c.2704+1G>A (n.2704+1G>A)
n.3088+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628588G>CCA412368309CDKL5c.2714G>C (p.Gly905Ala)
c.2837G>C (p.Gly946Ala)
c.2713+1G>C (n.2713+1G>C)
c.2785+1G>C (n.2785+1G>C)
c.2704+1G>C (n.2704+1G>C)
n.3088+1G>C
Xg.18628588G=CA2417982228CDKL5c.2714G= (p.Gly905=)
c.2837G= (p.Gly946=)
c.2713+1G= (n.2713+1G=)
c.2785+1G= (n.2785+1G=)
c.2704+1G= (n.2704+1G=)
n.3088+1G=
Xg.18628588G>TCA412368312CDKL5c.2714G>T (p.Gly905Val)
c.2837G>T (p.Gly946Val)
c.2713+1G>T (n.2713+1G>T)
c.2785+1G>T (n.2785+1G>T)
c.2704+1G>T (n.2704+1G>T)
n.3088+1G>T
 gnomAD v4
Xg.18628589T>ACA412368333CDKL5c.2715T>A (p.Gly905=)
c.2838T>A (p.Gly946=)
c.2713+2T>A (n.2713+2T>A)
c.2785+2T>A (n.2785+2T>A)
c.2704+2T>A (n.2704+2T>A)
n.3088+2T>A
Xg.18628589T>CCA412368344CDKL5c.2715T>C (p.Gly905=)
c.2838T>C (p.Gly946=)
c.2713+2T>C (n.2713+2T>C)
c.2785+2T>C (n.2785+2T>C)
c.2704+2T>C (n.2704+2T>C)
n.3088+2T>C
Xg.18628589T>GCA412368338CDKL5c.2715T>G (p.Gly905=)
c.2838T>G (p.Gly946=)
c.2713+2T>G (n.2713+2T>G)
c.2785+2T>G (n.2785+2T>G)
c.2704+2T>G (n.2704+2T>G)
n.3088+2T>G
 dbSNP gnomAD v4
Xg.18628589T=CA2417982229CDKL5c.2715T= (p.Gly905=)
c.2838T= (p.Gly946=)
c.2713+2T= (n.2713+2T=)
c.2785+2T= (n.2785+2T=)
c.2704+2T= (n.2704+2T=)
n.3088+2T=
Xg.18628590C>ACA412368347CDKL5c.2716C>A (p.Gln906Lys)
c.2839C>A (p.Gln947Lys)
c.2713+3C>A (n.2713+3C>A)
c.2785+3C>A (n.2785+3C>A)
c.2704+3C>A (n.2704+3C>A)
n.3088+3C>A
Xg.18628590C=CA2417982230CDKL5c.2716C= (p.Gln906=)
c.2839C= (p.Gln947=)
c.2713+3C= (n.2713+3C=)
c.2785+3C= (n.2785+3C=)
c.2704+3C= (n.2704+3C=)
n.3088+3C=
Xg.18628590C>GCA412368348CDKL5c.2716C>G (p.Gln906Glu)
c.2839C>G (p.Gln947Glu)
c.2713+3C>G (n.2713+3C>G)
c.2785+3C>G (n.2785+3C>G)
c.2704+3C>G (n.2704+3C>G)
n.3088+3C>G
Xg.18628590C>TCA279638CDKL5c.2716C>T (p.Gln906Ter)
c.2839C>T (p.Gln947Ter)
c.2713+3C>T (n.2713+3C>T)
c.2785+3C>T (n.2785+3C>T)
c.2704+3C>T (n.2704+3C>T)
n.3088+3C>T
 ClinVar dbSNP
Xg.18628591A>CCA412368354CDKL5c.2717A>C (p.Gln906Pro)
c.2840A>C (p.Gln947Pro)
c.2713+4A>C (n.2713+4A>C)
c.2785+4A>C (n.2785+4A>C)
c.2704+4A>C (n.2704+4A>C)
n.3088+4A>C
Xg.18628591A>GCA412368359CDKL5c.2717A>G (p.Gln906Arg)
c.2840A>G (p.Gln947Arg)
c.2713+4A>G (n.2713+4A>G)
c.2785+4A>G (n.2785+4A>G)
c.2704+4A>G (n.2704+4A>G)
n.3088+4A>G
Xg.18628591A>TCA412368362CDKL5c.2717A>T (p.Gln906Leu)
c.2840A>T (p.Gln947Leu)
c.2713+4A>T (n.2713+4A>T)
c.2785+4A>T (n.2785+4A>T)
c.2704+4A>T (n.2704+4A>T)
n.3088+4A>T
Xg.18628592G>CCA412368366CDKL5c.2718G>C (p.Gln906His)
c.2841G>C (p.Gln947His)
c.2713+5G>C (n.2713+5G>C)
c.2785+5G>C (n.2785+5G>C)
c.2704+5G>C (n.2704+5G>C)
n.3088+5G>C
Xg.18628592G>TCA412368373CDKL5c.2718G>T (p.Gln906His)
c.2841G>T (p.Gln947His)
c.2713+5G>T (n.2713+5G>T)
c.2785+5G>T (n.2785+5G>T)
c.2704+5G>T (n.2704+5G>T)
n.3088+5G>T
Xg.18628593A>CCA412368378CDKL5c.2719A>C (p.Met907Leu)
c.2842A>C (p.Met948Leu)
c.2713+6A>C (n.2713+6A>C)
c.2785+6A>C (n.2785+6A>C)
c.2704+6A>C (n.2704+6A>C)
n.3088+6A>C
Xg.18628593A>GCA412368382CDKL5c.2719A>G (p.Met907Val)
c.2842A>G (p.Met948Val)
c.2713+6A>G (n.2713+6A>G)
c.2785+6A>G (n.2785+6A>G)
c.2704+6A>G (n.2704+6A>G)
n.3088+6A>G
Xg.18628593A>TCA412368385CDKL5c.2719A>T (p.Met907Leu)
c.2842A>T (p.Met948Leu)
c.2713+6A>T (n.2713+6A>T)
c.2785+6A>T (n.2785+6A>T)
c.2704+6A>T (n.2704+6A>T)
n.3088+6A>T
Xg.18628594T>ACA412368387CDKL5c.2720T>A (p.Met907Lys)
c.2843T>A (p.Met948Lys)
c.2713+7T>A (n.2713+7T>A)
c.2785+7T>A (n.2785+7T>A)
c.2704+7T>A (n.2704+7T>A)
n.3088+7T>A
Xg.18628594T>CCA412368391CDKL5c.2720T>C (p.Met907Thr)
c.2843T>C (p.Met948Thr)
c.2713+7T>C (n.2713+7T>C)
c.2785+7T>C (n.2785+7T>C)
c.2704+7T>C (n.2704+7T>C)
n.3088+7T>C
Xg.18628594T>GCA412368388CDKL5c.2720T>G (p.Met907Arg)
c.2843T>G (p.Met948Arg)
c.2713+7T>G (n.2713+7T>G)
c.2785+7T>G (n.2785+7T>G)
c.2704+7T>G (n.2704+7T>G)
n.3088+7T>G
Xg.18628595G>ACA412368396CDKL5c.2721G>A (p.Met907Ile)
c.2844G>A (p.Met948Ile)
c.2713+8G>A (n.2713+8G>A)
c.2785+8G>A (n.2785+8G>A)
c.2704+8G>A (n.2704+8G>A)
n.3088+8G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18628595G>CCA412368401CDKL5c.2721G>C (p.Met907Ile)
c.2844G>C (p.Met948Ile)
c.2713+8G>C (n.2713+8G>C)
c.2785+8G>C (n.2785+8G>C)
c.2704+8G>C (n.2704+8G>C)
n.3088+8G>C
Xg.18628595G=CA2417982231CDKL5c.2721G= (p.Met907=)
c.2844G= (p.Met948=)
c.2713+8G= (n.2713+8G=)
c.2785+8G= (n.2785+8G=)
c.2704+8G= (n.2704+8G=)
n.3088+8G=
Xg.18628595G>TCA412368405CDKL5c.2721G>T (p.Met907Ile)
c.2844G>T (p.Met948Ile)
c.2713+8G>T (n.2713+8G>T)
c.2785+8G>T (n.2785+8G>T)
c.2704+8G>T (n.2704+8G>T)
n.3088+8G>T
Xg.18628596G>ACA412368414CDKL5c.2722G>A (p.Asp908Asn)
c.2845G>A (p.Asp949Asn)
c.2713+9G>A (n.2713+9G>A)
c.2785+9G>A (n.2785+9G>A)
c.2704+9G>A (n.2704+9G>A)
n.3088+9G>A
Xg.18628596G>CCA412368421CDKL5c.2722G>C (p.Asp908His)
c.2845G>C (p.Asp949His)
c.2713+9G>C (n.2713+9G>C)
c.2785+9G>C (n.2785+9G>C)
c.2704+9G>C (n.2704+9G>C)
n.3088+9G>C
Xg.18628596G>TCA412368423CDKL5c.2722G>T (p.Asp908Tyr)
c.2845G>T (p.Asp949Tyr)
c.2713+9G>T (n.2713+9G>T)
c.2785+9G>T (n.2785+9G>T)
c.2704+9G>T (n.2704+9G>T)
n.3088+9G>T
Xg.18628597A>CCA412368429CDKL5c.2723A>C (p.Asp908Ala)
c.2846A>C (p.Asp949Ala)
c.2713+10A>C (n.2713+10A>C)
c.2785+10A>C (n.2785+10A>C)
c.2704+10A>C (n.2704+10A>C)
n.3088+10A>C
Xg.18628597A>GCA412368434CDKL5c.2723A>G (p.Asp908Gly)
c.2846A>G (p.Asp949Gly)
c.2713+10A>G (n.2713+10A>G)
c.2785+10A>G (n.2785+10A>G)
c.2704+10A>G (n.2704+10A>G)
n.3088+10A>G
Xg.18628597A>TCA412368436CDKL5c.2723A>T (p.Asp908Val)
c.2846A>T (p.Asp949Val)
c.2713+10A>T (n.2713+10A>T)
c.2785+10A>T (n.2785+10A>T)
c.2704+10A>T (n.2704+10A>T)
n.3088+10A>T
Xg.18628598T>ACA412368441CDKL5c.2724T>A (p.Asp908Glu)
c.2847T>A (p.Asp949Glu)
c.2713+11T>A (n.2713+11T>A)
c.2785+11T>A (n.2785+11T>A)
c.2704+11T>A (n.2704+11T>A)
n.3088+11T>A
Xg.18628598T>CCA2579563125CDKL5c.2724T>C (p.Asp908=)
c.2847T>C (p.Asp949=)
c.2713+11T>C (n.2713+11T>C)
c.2785+11T>C (n.2785+11T>C)
c.2704+11T>C (n.2704+11T>C)
n.3088+11T>C
Xg.18628598T>GCA412368444CDKL5c.2724T>G (p.Asp908Glu)
c.2847T>G (p.Asp949Glu)
c.2713+11T>G (n.2713+11T>G)
c.2785+11T>G (n.2785+11T>G)
c.2704+11T>G (n.2704+11T>G)
n.3088+11T>G
Xg.18628599C>ACA412368458CDKL5c.2725C>A (p.Pro909Thr)
c.2848C>A (p.Pro950Thr)
c.2713+12C>A (n.2713+12C>A)
c.2785+12C>A (n.2785+12C>A)
c.2704+12C>A (n.2704+12C>A)
n.3088+12C>A
Xg.18628599C>GCA412368454CDKL5c.2725C>G (p.Pro909Ala)
c.2848C>G (p.Pro950Ala)
c.2713+12C>G (n.2713+12C>G)
c.2785+12C>G (n.2785+12C>G)
c.2704+12C>G (n.2704+12C>G)
n.3088+12C>G
Xg.18628599C>TCA412368450CDKL5c.2725C>T (p.Pro909Ser)
c.2848C>T (p.Pro950Ser)
c.2713+12C>T (n.2713+12C>T)
c.2785+12C>T (n.2785+12C>T)
c.2704+12C>T (n.2704+12C>T)
n.3088+12C>T
Xg.18628600C>ACA412368463CDKL5c.2726C>A (p.Pro909His)
c.2849C>A (p.Pro950His)
c.2713+13C>A (n.2713+13C>A)
c.2785+13C>A (n.2785+13C>A)
c.2704+13C>A (n.2704+13C>A)
n.3088+13C>A
Xg.18628600C>GCA412368468CDKL5c.2726C>G (p.Pro909Arg)
c.2849C>G (p.Pro950Arg)
c.2713+13C>G (n.2713+13C>G)
c.2785+13C>G (n.2785+13C>G)
c.2704+13C>G (n.2704+13C>G)
n.3088+13C>G
Xg.18628600C>TCA412368473CDKL5c.2726C>T (p.Pro909Leu)
c.2849C>T (p.Pro950Leu)
c.2713+13C>T (n.2713+13C>T)
c.2785+13C>T (n.2785+13C>T)
c.2704+13C>T (n.2704+13C>T)
n.3088+13C>T
 gnomAD v4
Xg.18628602G>ACA412368478CDKL5c.2728G>A (p.Gly910Ser)
c.2851G>A (p.Gly951Ser)
c.2713+15G>A (n.2713+15G>A)
c.2785+15G>A (n.2785+15G>A)
c.2704+15G>A (n.2704+15G>A)
n.3088+15G>A
Xg.18628602G>CCA412368482CDKL5c.2728G>C (p.Gly910Arg)
c.2851G>C (p.Gly951Arg)
c.2713+15G>C (n.2713+15G>C)
c.2785+15G>C (n.2785+15G>C)
c.2704+15G>C (n.2704+15G>C)
n.3088+15G>C
Xg.18628602G>TCA412368487CDKL5c.2728G>T (p.Gly910Cys)
c.2851G>T (p.Gly951Cys)
c.2713+15G>T (n.2713+15G>T)
c.2785+15G>T (n.2785+15G>T)
c.2704+15G>T (n.2704+15G>T)
n.3088+15G>T
Xg.18628603G>ACA412368493CDKL5c.2729G>A (p.Gly910Asp)
c.2852G>A (p.Gly951Asp)
c.2713+16G>A (n.2713+16G>A)
c.2785+16G>A (n.2785+16G>A)
c.2704+16G>A (n.2704+16G>A)
n.3088+16G>A
Xg.18628603G>CCA412368497CDKL5c.2729G>C (p.Gly910Ala)
c.2852G>C (p.Gly951Ala)
c.2713+16G>C (n.2713+16G>C)
c.2785+16G>C (n.2785+16G>C)
c.2704+16G>C (n.2704+16G>C)
n.3088+16G>C
Xg.18628603G=CA2417982232CDKL5c.2729G= (p.Gly910=)
c.2852G= (p.Gly951=)
c.2713+16G= (n.2713+16G=)
c.2785+16G= (n.2785+16G=)
c.2704+16G= (n.2704+16G=)
n.3088+16G=
Xg.18628603G>TCA10360573CDKL5c.2729G>T (p.Gly910Val)
c.2852G>T (p.Gly951Val)
c.2713+16G>T (n.2713+16G>T)
c.2785+16G>T (n.2785+16G>T)
c.2704+16G>T (n.2704+16G>T)
n.3088+16G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628605T>ACA412368509CDKL5c.2731T>A (p.Trp911Arg)
c.2854T>A (p.Trp952Arg)
c.2713+18T>A (n.2713+18T>A)
c.2785+18T>A (n.2785+18T>A)
c.2704+18T>A (n.2704+18T>A)
n.3088+18T>A
Xg.18628605T>CCA412368513CDKL5c.2731T>C (p.Trp911Arg)
c.2854T>C (p.Trp952Arg)
c.2713+18T>C (n.2713+18T>C)
c.2785+18T>C (n.2785+18T>C)
c.2704+18T>C (n.2704+18T>C)
n.3088+18T>C
Xg.18628605T>GCA412368517CDKL5c.2731T>G (p.Trp911Gly)
c.2854T>G (p.Trp952Gly)
c.2713+18T>G (n.2713+18T>G)
c.2785+18T>G (n.2785+18T>G)
c.2704+18T>G (n.2704+18T>G)
n.3088+18T>G
Xg.18628606G>ACA412368528CDKL5c.2732G>A (p.Trp911Ter)
c.2855G>A (p.Trp952Ter)
c.2713+19G>A (n.2713+19G>A)
c.2785+19G>A (n.2785+19G>A)
c.2704+19G>A (n.2704+19G>A)
n.3088+19G>A
Xg.18628606G>CCA412368530CDKL5c.2732G>C (p.Trp911Ser)
c.2855G>C (p.Trp952Ser)
c.2713+19G>C (n.2713+19G>C)
c.2785+19G>C (n.2785+19G>C)
c.2704+19G>C (n.2704+19G>C)
n.3088+19G>C
Xg.18628606G>TCA412368520CDKL5c.2732G>T (p.Trp911Leu)
c.2855G>T (p.Trp952Leu)
c.2713+19G>T (n.2713+19G>T)
c.2785+19G>T (n.2785+19G>T)
c.2704+19G>T (n.2704+19G>T)
n.3088+19G>T
Xg.18628607G>ACA412368561CDKL5c.2733G>A (p.Trp911Ter)
c.2856G>A (p.Trp952Ter)
c.2713+20G>A (n.2713+20G>A)
c.2785+20G>A (n.2785+20G>A)
c.2704+20G>A (n.2704+20G>A)
n.3088+20G>A
 ClinVar dbSNP
Xg.18628607G>CCA412368553CDKL5c.2733G>C (p.Trp911Cys)
c.2856G>C (p.Trp952Cys)
c.2713+20G>C (n.2713+20G>C)
c.2785+20G>C (n.2785+20G>C)
c.2704+20G>C (n.2704+20G>C)
n.3088+20G>C
Xg.18628607G=CA2417982233CDKL5c.2733G= (p.Trp911=)
c.2856G= (p.Trp952=)
c.2713+20G= (n.2713+20G=)
c.2785+20G= (n.2785+20G=)
c.2704+20G= (n.2704+20G=)
n.3088+20G=
Xg.18628607G>TCA412368557CDKL5c.2733G>T (p.Trp911Cys)
c.2856G>T (p.Trp952Cys)
c.2713+20G>T (n.2713+20G>T)
c.2785+20G>T (n.2785+20G>T)
c.2704+20G>T (n.2704+20G>T)
n.3088+20G>T
Xg.18628608C>ACA412368568CDKL5c.2734C>A (p.His912Asn)
c.2857C>A (p.His953Asn)
c.2713+21C>A (n.2713+21C>A)
c.2785+21C>A (n.2785+21C>A)
c.2704+21C>A (n.2704+21C>A)
n.3088+21C>A
Xg.18628608C>GCA412368571CDKL5c.2734C>G (p.His912Asp)
c.2857C>G (p.His953Asp)
c.2713+21C>G (n.2713+21C>G)
c.2785+21C>G (n.2785+21C>G)
c.2704+21C>G (n.2704+21C>G)
n.3088+21C>G
Xg.18628608C>TCA412368575CDKL5c.2734C>T (p.His912Tyr)
c.2857C>T (p.His953Tyr)
c.2713+21C>T (n.2713+21C>T)
c.2785+21C>T (n.2785+21C>T)
c.2704+21C>T (n.2704+21C>T)
n.3088+21C>T
Xg.18628609A>CCA412368581CDKL5c.2735A>C (p.His912Pro)
c.2858A>C (p.His953Pro)
c.2713+22A>C (n.2713+22A>C)
c.2785+22A>C (n.2785+22A>C)
c.2704+22A>C (n.2704+22A>C)
n.3088+22A>C
Xg.18628609A>GCA412368589CDKL5c.2735A>G (p.His912Arg)
c.2858A>G (p.His953Arg)
c.2713+22A>G (n.2713+22A>G)
c.2785+22A>G (n.2785+22A>G)
c.2704+22A>G (n.2704+22A>G)
n.3088+22A>G
 gnomAD v4
Xg.18628609A>TCA412368593CDKL5c.2735A>T (p.His912Leu)
c.2858A>T (p.His953Leu)
c.2713+22A>T (n.2713+22A>T)
c.2785+22A>T (n.2785+22A>T)
c.2704+22A>T (n.2704+22A>T)
n.3088+22A>T
Xg.18628610T>ACA412368597CDKL5c.2736T>A (p.His912Gln)
c.2859T>A (p.His953Gln)
c.2713+23T>A (n.2713+23T>A)
c.2785+23T>A (n.2785+23T>A)
c.2704+23T>A (n.2704+23T>A)
n.3088+23T>A
Xg.18628610T>CCA2417982235CDKL5c.2736T>C (p.His912=)
c.2859T>C (p.His953=)
c.2713+23T>C (n.2713+23T>C)
c.2785+23T>C (n.2785+23T>C)
c.2704+23T>C (n.2704+23T>C)
n.3088+23T>C
 dbSNP gnomAD v4
Xg.18628610T>GCA412368602CDKL5c.2736T>G (p.His912Gln)
c.2859T>G (p.His953Gln)
c.2713+23T>G (n.2713+23T>G)
c.2785+23T>G (n.2785+23T>G)
c.2704+23T>G (n.2704+23T>G)
n.3088+23T>G
Xg.18628610T=CA2417982234CDKL5c.2736T= (p.His912=)
c.2859T= (p.His953=)
c.2713+23T= (n.2713+23T=)
c.2785+23T= (n.2785+23T=)
c.2704+23T= (n.2704+23T=)
n.3088+23T=
Xg.18628611G>ACA412368607CDKL5c.2737G>A (p.Val913Met)
c.2860G>A (p.Val954Met)
c.2713+24G>A (n.2713+24G>A)
c.2785+24G>A (n.2785+24G>A)
c.2704+24G>A (n.2704+24G>A)
n.3088+24G>A
Xg.18628611G>CCA412368610CDKL5c.2737G>C (p.Val913Leu)
c.2860G>C (p.Val954Leu)
c.2713+24G>C (n.2713+24G>C)
c.2785+24G>C (n.2785+24G>C)
c.2704+24G>C (n.2704+24G>C)
n.3088+24G>C
Xg.18628611G>TCA412368611CDKL5c.2737G>T (p.Val913Leu)
c.2860G>T (p.Val954Leu)
c.2713+24G>T (n.2713+24G>T)
c.2785+24G>T (n.2785+24G>T)
c.2704+24G>T (n.2704+24G>T)
n.3088+24G>T
Xg.18628612T>ACA412368619CDKL5c.2738T>A (p.Val913Glu)
c.2861T>A (p.Val954Glu)
c.2713+25T>A (n.2713+25T>A)
c.2785+25T>A (n.2785+25T>A)
c.2704+25T>A (n.2704+25T>A)
n.3088+25T>A
Xg.18628612T>CCA412368615CDKL5c.2738T>C (p.Val913Ala)
c.2861T>C (p.Val954Ala)
c.2713+25T>C (n.2713+25T>C)
c.2785+25T>C (n.2785+25T>C)
c.2704+25T>C (n.2704+25T>C)
n.3088+25T>C
Xg.18628612T>GCA412368616CDKL5c.2738T>G (p.Val913Gly)
c.2861T>G (p.Val954Gly)
c.2713+25T>G (n.2713+25T>G)
c.2785+25T>G (n.2785+25T>G)
c.2704+25T>G (n.2704+25T>G)
n.3088+25T>G
Xg.18628614T>ACA412368623CDKL5c.2740T>A (p.Ser914Thr)
c.2863T>A (p.Ser955Thr)
c.2713+27T>A (n.2713+27T>A)
c.2785+27T>A (n.2785+27T>A)
c.2704+27T>A (n.2704+27T>A)
n.3088+27T>A
Xg.18628614T>CCA412368626CDKL5c.2740T>C (p.Ser914Pro)
c.2863T>C (p.Ser955Pro)
c.2713+27T>C (n.2713+27T>C)
c.2785+27T>C (n.2785+27T>C)
c.2704+27T>C (n.2704+27T>C)
n.3088+27T>C
Xg.18628614T>GCA412368636CDKL5c.2740T>G (p.Ser914Ala)
c.2863T>G (p.Ser955Ala)
c.2713+27T>G (n.2713+27T>G)
c.2785+27T>G (n.2785+27T>G)
c.2704+27T>G (n.2704+27T>G)
n.3088+27T>G
Xg.18628615C>ACA412368640CDKL5c.2741C>A (p.Ser914Tyr)
c.2864C>A (p.Ser955Tyr)
c.2713+28C>A (n.2713+28C>A)
c.2785+28C>A (n.2785+28C>A)
c.2704+28C>A (n.2704+28C>A)
n.3088+28C>A
Xg.18628615C>GCA412368645CDKL5c.2741C>G (p.Ser914Cys)
c.2864C>G (p.Ser955Cys)
c.2713+28C>G (n.2713+28C>G)
c.2785+28C>G (n.2785+28C>G)
c.2704+28C>G (n.2704+28C>G)
n.3088+28C>G
Xg.18628615C>TCA412368647CDKL5c.2741C>T (p.Ser914Phe)
c.2864C>T (p.Ser955Phe)
c.2713+28C>T (n.2713+28C>T)
c.2785+28C>T (n.2785+28C>T)
c.2704+28C>T (n.2704+28C>T)
n.3088+28C>T
Xg.18628616C>TCA2693224085CDKL5c.2742C>T (p.Ser914=)
c.2865C>T (p.Ser955=)
c.2713+29C>T (n.2713+29C>T)
c.2785+29C>T (n.2785+29C>T)
c.2704+29C>T (n.2704+29C>T)
n.3088+29C>T
 gnomAD v4
Xg.18628617T>ACA412368653CDKL5c.2743T>A (p.Ser915Thr)
c.2866T>A (p.Ser956Thr)
c.2713+30T>A (n.2713+30T>A)
c.2785+30T>A (n.2785+30T>A)
c.2704+30T>A (n.2704+30T>A)
n.3088+30T>A
Xg.18628617T>CCA412368657CDKL5c.2743T>C (p.Ser915Pro)
c.2866T>C (p.Ser956Pro)
c.2713+30T>C (n.2713+30T>C)
c.2785+30T>C (n.2785+30T>C)
c.2704+30T>C (n.2704+30T>C)
n.3088+30T>C
Xg.18628617T>GCA412368665CDKL5c.2743T>G (p.Ser915Ala)
c.2866T>G (p.Ser956Ala)
c.2713+30T>G (n.2713+30T>G)
c.2785+30T>G (n.2785+30T>G)
c.2704+30T>G (n.2704+30T>G)
n.3088+30T>G
Xg.18628618C>ACA412368673CDKL5c.2744C>A (p.Ser915Tyr)
c.2867C>A (p.Ser956Tyr)
c.2713+31C>A (n.2713+31C>A)
c.2785+31C>A (n.2785+31C>A)
c.2704+31C>A (n.2704+31C>A)
n.3088+31C>A
Xg.18628618C>GCA412368678CDKL5c.2744C>G (p.Ser915Cys)
c.2867C>G (p.Ser956Cys)
c.2713+31C>G (n.2713+31C>G)
c.2785+31C>G (n.2785+31C>G)
c.2704+31C>G (n.2704+31C>G)
n.3088+31C>G
Xg.18628618C>TCA412368679CDKL5c.2744C>T (p.Ser915Phe)
c.2867C>T (p.Ser956Phe)
c.2713+31C>T (n.2713+31C>T)
c.2785+31C>T (n.2785+31C>T)
c.2704+31C>T (n.2704+31C>T)
n.3088+31C>T
Xg.18628620G>ACA412368686CDKL5c.2746G>A (p.Val916Met)
c.2869G>A (p.Val957Met)
c.2713+33G>A (n.2713+33G>A)
c.2785+33G>A (n.2785+33G>A)
c.2704+33G>A (n.2704+33G>A)
n.3088+33G>A
Xg.18628620G>CCA412368683CDKL5c.2746G>C (p.Val916Leu)
c.2869G>C (p.Val957Leu)
c.2713+33G>C (n.2713+33G>C)
c.2785+33G>C (n.2785+33G>C)
c.2704+33G>C (n.2704+33G>C)
n.3088+33G>C
 gnomAD v4
Xg.18628620G>TCA412368680CDKL5c.2746G>T (p.Val916Leu)
c.2869G>T (p.Val957Leu)
c.2713+33G>T (n.2713+33G>T)
c.2785+33G>T (n.2785+33G>T)
c.2704+33G>T (n.2704+33G>T)
n.3088+33G>T
Xg.18628621T>ACA412368691CDKL5c.2747T>A (p.Val916Glu)
c.2870T>A (p.Val957Glu)
c.2713+34T>A (n.2713+34T>A)
c.2785+34T>A (n.2785+34T>A)
c.2704+34T>A (n.2704+34T>A)
n.3088+34T>A
Xg.18628621T>CCA412368687CDKL5c.2747T>C (p.Val916Ala)
c.2870T>C (p.Val957Ala)
c.2713+34T>C (n.2713+34T>C)
c.2785+34T>C (n.2785+34T>C)
c.2704+34T>C (n.2704+34T>C)
n.3088+34T>C
Xg.18628621T>GCA412368688CDKL5c.2747T>G (p.Val916Gly)
c.2870T>G (p.Val957Gly)
c.2713+34T>G (n.2713+34T>G)
c.2785+34T>G (n.2785+34T>G)
c.2704+34T>G (n.2704+34T>G)
n.3088+34T>G
Xg.18628623A>CCA412368696CDKL5c.2749A>C (p.Thr917Pro)
c.2872A>C (p.Thr958Pro)
c.2713+36A>C (n.2713+36A>C)
c.2785+36A>C (n.2785+36A>C)
c.2704+36A>C (n.2704+36A>C)
n.3088+36A>C
Xg.18628623A>GCA412368700CDKL5c.2749A>G (p.Thr917Ala)
c.2872A>G (p.Thr958Ala)
c.2713+36A>G (n.2713+36A>G)
c.2785+36A>G (n.2785+36A>G)
c.2704+36A>G (n.2704+36A>G)
n.3088+36A>G
Xg.18628623A>TCA412368702CDKL5c.2749A>T (p.Thr917Ser)
c.2872A>T (p.Thr958Ser)
c.2713+36A>T (n.2713+36A>T)
c.2785+36A>T (n.2785+36A>T)
c.2704+36A>T (n.2704+36A>T)
n.3088+36A>T
Xg.18628624C>ACA412368708CDKL5c.2750C>A (p.Thr917Asn)
c.2873C>A (p.Thr958Asn)
c.2713+37C>A (n.2713+37C>A)
c.2785+37C>A (n.2785+37C>A)
c.2704+37C>A (n.2704+37C>A)
n.3088+37C>A
Xg.18628624C>GCA412368711CDKL5c.2750C>G (p.Thr917Ser)
c.2873C>G (p.Thr958Ser)
c.2713+37C>G (n.2713+37C>G)
c.2785+37C>G (n.2785+37C>G)
c.2704+37C>G (n.2704+37C>G)
n.3088+37C>G
Xg.18628624C>TCA412368715CDKL5c.2750C>T (p.Thr917Ile)
c.2873C>T (p.Thr958Ile)
c.2713+37C>T (n.2713+37C>T)
c.2785+37C>T (n.2785+37C>T)
c.2704+37C>T (n.2704+37C>T)
n.3088+37C>T
Xg.18628625C>ACA2579563126CDKL5c.2751C>A (p.Thr917=)
c.2874C>A (p.Thr958=)
c.2713+38C>A (n.2713+38C>A)
c.2785+38C>A (n.2785+38C>A)
c.2704+38C>A (n.2704+38C>A)
n.3088+38C>A
Xg.18628625C=CA2417982236CDKL5c.2751C= (p.Thr917=)
c.2874C= (p.Thr958=)
c.2713+38C= (n.2713+38C=)
c.2785+38C= (n.2785+38C=)
c.2704+38C= (n.2704+38C=)
n.3088+38C=
Xg.18628625C>TCA2417982237CDKL5c.2751C>T (p.Thr917=)
c.2874C>T (p.Thr958=)
c.2713+38C>T (n.2713+38C>T)
c.2785+38C>T (n.2785+38C>T)
c.2704+38C>T (n.2704+38C>T)
n.3088+38C>T
 dbSNP gnomAD v4
Xg.18628626A>CCA2579563127CDKL5c.2752A>C (p.Arg918=)
c.2875A>C (p.Arg959=)
c.2713+39A>C (n.2713+39A>C)
c.2785+39A>C (n.2785+39A>C)
c.2704+39A>C (n.2704+39A>C)
n.3088+39A>C
Xg.18628626A>GCA412368723CDKL5c.2752A>G (p.Arg918Gly)
c.2875A>G (p.Arg959Gly)
c.2713+39A>G (n.2713+39A>G)
c.2785+39A>G (n.2785+39A>G)
c.2704+39A>G (n.2704+39A>G)
n.3088+39A>G
Xg.18628626A>TCA412368726CDKL5c.2752A>T (p.Arg918Trp)
c.2875A>T (p.Arg959Trp)
c.2713+39A>T (n.2713+39A>T)
c.2785+39A>T (n.2785+39A>T)
c.2704+39A>T (n.2704+39A>T)
n.3088+39A>T
Xg.18628627G>ACA412368730CDKL5c.2753G>A (p.Arg918Lys)
c.2876G>A (p.Arg959Lys)
c.2713+40G>A (n.2713+40G>A)
c.2785+40G>A (n.2785+40G>A)
c.2704+40G>A (n.2704+40G>A)
n.3088+40G>A
Xg.18628627G>CCA412368731CDKL5c.2753G>C (p.Arg918Thr)
c.2876G>C (p.Arg959Thr)
c.2713+40G>C (n.2713+40G>C)
c.2785+40G>C (n.2785+40G>C)
c.2704+40G>C (n.2704+40G>C)
n.3088+40G>C
Xg.18628627G>TCA412368732CDKL5c.2753G>T (p.Arg918Met)
c.2876G>T (p.Arg959Met)
c.2713+40G>T (n.2713+40G>T)
c.2785+40G>T (n.2785+40G>T)
c.2704+40G>T (n.2704+40G>T)
n.3088+40G>T
Xg.18628628G>CCA412368740CDKL5c.2754G>C (p.Arg918Ser)
c.2877G>C (p.Arg959Ser)
c.2713+41G>C (n.2713+41G>C)
c.2785+41G>C (n.2785+41G>C)
c.2704+41G>C (n.2704+41G>C)
n.3088+41G>C
Xg.18628628G>TCA412368736CDKL5c.2754G>T (p.Arg918Ser)
c.2877G>T (p.Arg959Ser)
c.2713+41G>T (n.2713+41G>T)
c.2785+41G>T (n.2785+41G>T)
c.2704+41G>T (n.2704+41G>T)
n.3088+41G>T
Xg.18628629A>CCA412368744CDKL5c.2755A>C (p.Ser919Arg)
c.2878A>C (p.Ser960Arg)
c.2713+42A>C (n.2713+42A>C)
c.2785+42A>C (n.2785+42A>C)
c.2704+42A>C (n.2704+42A>C)
n.3088+42A>C
Xg.18628629A>GCA412368745CDKL5c.2755A>G (p.Ser919Gly)
c.2878A>G (p.Ser960Gly)
c.2713+42A>G (n.2713+42A>G)
c.2785+42A>G (n.2785+42A>G)
c.2704+42A>G (n.2704+42A>G)
n.3088+42A>G
Xg.18628629A>TCA412368746CDKL5c.2755A>T (p.Ser919Cys)
c.2878A>T (p.Ser960Cys)
c.2713+42A>T (n.2713+42A>T)
c.2785+42A>T (n.2785+42A>T)
c.2704+42A>T (n.2704+42A>T)
n.3088+42A>T
Xg.18628630G>ACA412368749CDKL5c.2756G>A (p.Ser919Asn)
c.2879G>A (p.Ser960Asn)
c.2713+43G>A (n.2713+43G>A)
c.2785+43G>A (n.2785+43G>A)
c.2704+43G>A (n.2704+43G>A)
n.3088+43G>A
 dbSNP
Xg.18628630G>CCA412368751CDKL5c.2756G>C (p.Ser919Thr)
c.2879G>C (p.Ser960Thr)
c.2713+43G>C (n.2713+43G>C)
c.2785+43G>C (n.2785+43G>C)
c.2704+43G>C (n.2704+43G>C)
n.3088+43G>C
Xg.18628630G>TCA412368755CDKL5c.2756G>T (p.Ser919Ile)
c.2879G>T (p.Ser960Ile)
c.2713+43G>T (n.2713+43G>T)
c.2785+43G>T (n.2785+43G>T)
c.2704+43G>T (n.2704+43G>T)
n.3088+43G>T
 gnomAD v4

Number of alleles fetched