Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18628446delCA171629CDKL5c.2572del (p.Arg858AlafsTer5)
c.2695del (p.Arg899AlafsTer5)
c.2644del (p.Arg882AlafsTer5)
c.2563del (p.Arg855AlafsTer5)
n.2947del
 ClinVar dbSNP
Xg.18628445C>ACA515470599CDKL5c.2571C>A (p.Pro857=)
c.2694C>A (p.Pro898=)
c.2643C>A (p.Pro881=)
c.2562C>A (p.Pro854=)
n.2946C>A
Xg.18628445C>GCA515470600CDKL5c.2571C>G (p.Pro857=)
c.2694C>G (p.Pro898=)
c.2643C>G (p.Pro881=)
c.2562C>G (p.Pro854=)
n.2946C>G
Xg.18628445C>TCA515470601CDKL5c.2571C>T (p.Pro857=)
c.2694C>T (p.Pro898=)
c.2643C>T (p.Pro881=)
c.2562C>T (p.Pro854=)
n.2946C>T
Xg.18628446C>ACA412367272CDKL5c.2572C>A (p.Arg858Ser)
c.2695C>A (p.Arg899Ser)
c.2644C>A (p.Arg882Ser)
c.2563C>A (p.Arg855Ser)
n.2947C>A
Xg.18628446C=CA2417982187CDKL5c.2572C= (p.Arg858=)
c.2695C= (p.Arg899=)
c.2644C= (p.Arg882=)
c.2563C= (p.Arg855=)
n.2947C=
Xg.18628446C>GCA412367274CDKL5c.2572C>G (p.Arg858Gly)
c.2695C>G (p.Arg899Gly)
c.2644C>G (p.Arg882Gly)
c.2563C>G (p.Arg855Gly)
n.2947C>G
 gnomAD v4
Xg.18628446C>TCA10360567CDKL5c.2572C>T (p.Arg858Cys)
c.2695C>T (p.Arg899Cys)
c.2644C>T (p.Arg882Cys)
c.2563C>T (p.Arg855Cys)
n.2947C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628447G>ACA10360568CDKL5c.2573G>A (p.Arg858His)
c.2696G>A (p.Arg899His)
c.2645G>A (p.Arg882His)
c.2564G>A (p.Arg855His)
n.2948G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628447G>CCA412367279CDKL5c.2573G>C (p.Arg858Pro)
c.2696G>C (p.Arg899Pro)
c.2645G>C (p.Arg882Pro)
c.2564G>C (p.Arg855Pro)
n.2948G>C
Xg.18628447G=CA2417982188CDKL5c.2573G= (p.Arg858=)
c.2696G= (p.Arg899=)
c.2645G= (p.Arg882=)
c.2564G= (p.Arg855=)
n.2948G=
Xg.18628447G>TCA412367281CDKL5c.2573G>T (p.Arg858Leu)
c.2696G>T (p.Arg899Leu)
c.2645G>T (p.Arg882Leu)
c.2564G>T (p.Arg855Leu)
n.2948G>T
Xg.18628448C>ACA515470602CDKL5c.2574C>A (p.Arg858=)
c.2697C>A (p.Arg899=)
c.2646C>A (p.Arg882=)
c.2565C>A (p.Arg855=)
n.2949C>A
Xg.18628448C>GCA515470604CDKL5c.2574C>G (p.Arg858=)
c.2697C>G (p.Arg899=)
c.2646C>G (p.Arg882=)
c.2565C>G (p.Arg855=)
n.2949C>G
Xg.18628448C>TCA515470603CDKL5c.2574C>T (p.Arg858=)
c.2697C>T (p.Arg899=)
c.2646C>T (p.Arg882=)
c.2565C>T (p.Arg855=)
n.2949C>T
 COSMIC
Xg.18628449T>ACA412367284CDKL5c.2575T>A (p.Phe859Ile)
c.2698T>A (p.Phe900Ile)
c.2647T>A (p.Phe883Ile)
c.2566T>A (p.Phe856Ile)
n.2950T>A
Xg.18628449T>CCA412367286CDKL5c.2575T>C (p.Phe859Leu)
c.2698T>C (p.Phe900Leu)
c.2647T>C (p.Phe883Leu)
c.2566T>C (p.Phe856Leu)
n.2950T>C
Xg.18628449T>GCA412367289CDKL5c.2575T>G (p.Phe859Val)
c.2698T>G (p.Phe900Val)
c.2647T>G (p.Phe883Val)
c.2566T>G (p.Phe856Val)
n.2950T>G
Xg.18628450T>ACA412367292CDKL5c.2576T>A (p.Phe859Tyr)
c.2699T>A (p.Phe900Tyr)
c.2648T>A (p.Phe883Tyr)
c.2567T>A (p.Phe856Tyr)
n.2951T>A
 dbSNP gnomAD v4
Xg.18628450T>CCA412367296CDKL5c.2576T>C (p.Phe859Ser)
c.2699T>C (p.Phe900Ser)
c.2648T>C (p.Phe883Ser)
c.2567T>C (p.Phe856Ser)
n.2951T>C
Xg.18628450T>GCA412367294CDKL5c.2576T>G (p.Phe859Cys)
c.2699T>G (p.Phe900Cys)
c.2648T>G (p.Phe883Cys)
c.2567T>G (p.Phe856Cys)
n.2951T>G
 gnomAD v4
Xg.18628450T=CA2417982189CDKL5c.2576T= (p.Phe859=)
c.2699T= (p.Phe900=)
c.2648T= (p.Phe883=)
c.2567T= (p.Phe856=)
n.2951T=
Xg.18628451C>ACA412367298CDKL5c.2577C>A (p.Phe859Leu)
c.2700C>A (p.Phe900Leu)
c.2649C>A (p.Phe883Leu)
c.2568C>A (p.Phe856Leu)
n.2952C>A
Xg.18628451C>GCA412367301CDKL5c.2577C>G (p.Phe859Leu)
c.2700C>G (p.Phe900Leu)
c.2649C>G (p.Phe883Leu)
c.2568C>G (p.Phe856Leu)
n.2952C>G
Xg.18628451C>TCA515470605CDKL5c.2577C>T (p.Phe859=)
c.2700C>T (p.Phe900=)
c.2649C>T (p.Phe883=)
c.2568C>T (p.Phe856=)
n.2952C>T
Xg.18628453_18628456dupCA2499226526CDKL5c.2579_2582dup (p.Leu862AlafsTer?)
c.2702_2705dup (p.Leu903AlafsTer?)
c.2651_2654dup (p.Leu886AlafsTer?)
c.2570_2573dup (p.Leu859AlafsTer?)
n.2954_2957dup
 ClinVar dbSNP
Xg.18628452C>ACA412367303CDKL5c.2578C>A (p.Gln860Lys)
c.2701C>A (p.Gln901Lys)
c.2650C>A (p.Gln884Lys)
c.2569C>A (p.Gln857Lys)
n.2953C>A
Xg.18628452C=CA2417982190CDKL5c.2578C= (p.Gln860=)
c.2701C= (p.Gln901=)
c.2650C= (p.Gln884=)
c.2569C= (p.Gln857=)
n.2953C=
Xg.18628452C>GCA412367305CDKL5c.2578C>G (p.Gln860Glu)
c.2701C>G (p.Gln901Glu)
c.2650C>G (p.Gln884Glu)
c.2569C>G (p.Gln857Glu)
n.2953C>G
Xg.18628452C>TCA412367307CDKL5c.2578C>T (p.Gln860Ter)
c.2701C>T (p.Gln901Ter)
c.2650C>T (p.Gln884Ter)
c.2569C>T (p.Gln857Ter)
n.2953C>T
 ClinVar dbSNP
Xg.18628453A>CCA412367308CDKL5c.2579A>C (p.Gln860Pro)
c.2702A>C (p.Gln901Pro)
c.2651A>C (p.Gln884Pro)
c.2570A>C (p.Gln857Pro)
n.2954A>C
Xg.18628453A>GCA412367310CDKL5c.2579A>G (p.Gln860Arg)
c.2702A>G (p.Gln901Arg)
c.2651A>G (p.Gln884Arg)
c.2570A>G (p.Gln857Arg)
n.2954A>G
Xg.18628453A>TCA412367312CDKL5c.2579A>T (p.Gln860Leu)
c.2702A>T (p.Gln901Leu)
c.2651A>T (p.Gln884Leu)
c.2570A>T (p.Gln857Leu)
n.2954A>T
Xg.18628454G>ACA515470606CDKL5c.2580G>A (p.Gln860=)
c.2703G>A (p.Gln901=)
c.2652G>A (p.Gln884=)
c.2571G>A (p.Gln857=)
n.2955G>A
Xg.18628454G>CCA412367314CDKL5c.2580G>C (p.Gln860His)
c.2703G>C (p.Gln901His)
c.2652G>C (p.Gln884His)
c.2571G>C (p.Gln857His)
n.2955G>C
Xg.18628454G>TCA412367316CDKL5c.2580G>T (p.Gln860His)
c.2703G>T (p.Gln901His)
c.2652G>T (p.Gln884His)
c.2571G>T (p.Gln857His)
n.2955G>T
Xg.18628455C>ACA412367323CDKL5c.2581C>A (p.Pro861Thr)
c.2704C>A (p.Pro902Thr)
c.2653C>A (p.Pro885Thr)
c.2572C>A (p.Pro858Thr)
n.2956C>A
Xg.18628455C=CA2417982191CDKL5c.2581C= (p.Pro861=)
c.2704C= (p.Pro902=)
c.2653C= (p.Pro885=)
c.2572C= (p.Pro858=)
n.2956C=
Xg.18628455C>GCA412367321CDKL5c.2581C>G (p.Pro861Ala)
c.2704C>G (p.Pro902Ala)
c.2653C>G (p.Pro885Ala)
c.2572C>G (p.Pro858Ala)
n.2956C>G
Xg.18628455C>TCA412367319CDKL5c.2581C>T (p.Pro861Ser)
c.2704C>T (p.Pro902Ser)
c.2653C>T (p.Pro885Ser)
c.2572C>T (p.Pro858Ser)
n.2956C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628456C>ACA412367325CDKL5c.2582C>A (p.Pro861His)
c.2705C>A (p.Pro902His)
c.2654C>A (p.Pro885His)
c.2573C>A (p.Pro858His)
n.2957C>A
Xg.18628456C>GCA412367327CDKL5c.2582C>G (p.Pro861Arg)
c.2705C>G (p.Pro902Arg)
c.2654C>G (p.Pro885Arg)
c.2573C>G (p.Pro858Arg)
n.2957C>G
Xg.18628456C>TCA412367328CDKL5c.2582C>T (p.Pro861Leu)
c.2705C>T (p.Pro902Leu)
c.2654C>T (p.Pro885Leu)
c.2573C>T (p.Pro858Leu)
n.2957C>T
 gnomAD v4
Xg.18628457C>ACA515470607CDKL5c.2583C>A (p.Pro861=)
c.2706C>A (p.Pro902=)
c.2655C>A (p.Pro885=)
c.2574C>A (p.Pro858=)
n.2958C>A
Xg.18628457C>GCA515470608CDKL5c.2583C>G (p.Pro861=)
c.2706C>G (p.Pro902=)
c.2655C>G (p.Pro885=)
c.2574C>G (p.Pro858=)
n.2958C>G
 gnomAD v4
Xg.18628457C>TCA515470609CDKL5c.2583C>T (p.Pro861=)
c.2706C>T (p.Pro902=)
c.2655C>T (p.Pro885=)
c.2574C>T (p.Pro858=)
n.2958C>T
 COSMIC
Xg.18628458T>ACA412367331CDKL5c.2584T>A (p.Leu862Ile)
c.2707T>A (p.Leu903Ile)
c.2656T>A (p.Leu886Ile)
c.2575T>A (p.Leu859Ile)
n.2959T>A
Xg.18628458T>CCA515470611CDKL5c.2584T>C (p.Leu862=)
c.2707T>C (p.Leu903=)
c.2656T>C (p.Leu886=)
c.2575T>C (p.Leu859=)
n.2959T>C
Xg.18628458T>GCA412367333CDKL5c.2584T>G (p.Leu862Val)
c.2707T>G (p.Leu903Val)
c.2656T>G (p.Leu886Val)
c.2575T>G (p.Leu859Val)
n.2959T>G
Xg.18628459T>ACA412367336CDKL5c.2585T>A (p.Leu862Ter)
c.2708T>A (p.Leu903Ter)
c.2657T>A (p.Leu886Ter)
c.2576T>A (p.Leu859Ter)
n.2960T>A
Xg.18628459T>CCA412367338CDKL5c.2585T>C (p.Leu862Ser)
c.2708T>C (p.Leu903Ser)
c.2657T>C (p.Leu886Ser)
c.2576T>C (p.Leu859Ser)
n.2960T>C
Xg.18628459T>GCA412367340CDKL5c.2585T>G (p.Leu862Ter)
c.2708T>G (p.Leu903Ter)
c.2657T>G (p.Leu886Ter)
c.2576T>G (p.Leu859Ter)
n.2960T>G
Xg.18628460A>CCA412367343CDKL5c.2586A>C (p.Leu862Phe)
c.2709A>C (p.Leu903Phe)
c.2658A>C (p.Leu886Phe)
c.2577A>C (p.Leu859Phe)
n.2961A>C
Xg.18628460A>GCA515470612CDKL5c.2586A>G (p.Leu862=)
c.2709A>G (p.Leu903=)
c.2658A>G (p.Leu886=)
c.2577A>G (p.Leu859=)
n.2961A>G
 gnomAD v4
Xg.18628460A>TCA412367345CDKL5c.2586A>T (p.Leu862Phe)
c.2709A>T (p.Leu903Phe)
c.2658A>T (p.Leu886Phe)
c.2577A>T (p.Leu859Phe)
n.2961A>T
Xg.18628461A=CA2417982192CDKL5c.2587A= (p.Thr863=)
c.2710A= (p.Thr904=)
c.2659A= (p.Thr887=)
c.2578A= (p.Thr860=)
n.2962A=
Xg.18628461A>CCA412367348CDKL5c.2587A>C (p.Thr863Pro)
c.2710A>C (p.Thr904Pro)
c.2659A>C (p.Thr887Pro)
c.2578A>C (p.Thr860Pro)
n.2962A>C
Xg.18628461A>GCA10360569CDKL5c.2587A>G (p.Thr863Ala)
c.2710A>G (p.Thr904Ala)
c.2659A>G (p.Thr887Ala)
c.2578A>G (p.Thr860Ala)
n.2962A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628461A>TCA412367352CDKL5c.2587A>T (p.Thr863Ser)
c.2710A>T (p.Thr904Ser)
c.2659A>T (p.Thr887Ser)
c.2578A>T (p.Thr860Ser)
n.2962A>T
Xg.18628462C>ACA412367359CDKL5c.2588C>A (p.Thr863Lys)
c.2711C>A (p.Thr904Lys)
c.2660C>A (p.Thr887Lys)
c.2579C>A (p.Thr860Lys)
n.2963C>A
Xg.18628462C>GCA412367355CDKL5c.2588C>G (p.Thr863Arg)
c.2711C>G (p.Thr904Arg)
c.2660C>G (p.Thr887Arg)
c.2579C>G (p.Thr860Arg)
n.2963C>G
Xg.18628462C>TCA412367357CDKL5c.2588C>T (p.Thr863Ile)
c.2711C>T (p.Thr904Ile)
c.2660C>T (p.Thr887Ile)
c.2579C>T (p.Thr860Ile)
n.2963C>T
Xg.18628463A>CCA515470615CDKL5c.2589A>C (p.Thr863=)
c.2712A>C (p.Thr904=)
c.2661A>C (p.Thr887=)
c.2580A>C (p.Thr860=)
n.2964A>C
Xg.18628463A>GCA515470616CDKL5c.2589A>G (p.Thr863=)
c.2712A>G (p.Thr904=)
c.2661A>G (p.Thr887=)
c.2580A>G (p.Thr860=)
n.2964A>G
Xg.18628463A>TCA515470614CDKL5c.2589A>T (p.Thr863=)
c.2712A>T (p.Thr904=)
c.2661A>T (p.Thr887=)
c.2580A>T (p.Thr860=)
n.2964A>T
Xg.18628464G>ACA412367363CDKL5c.2590G>A (p.Ala864Thr)
c.2713G>A (p.Ala905Thr)
c.2662G>A (p.Ala888Thr)
c.2581G>A (p.Ala861Thr)
n.2965G>A
Xg.18628464G>CCA412367365CDKL5c.2590G>C (p.Ala864Pro)
c.2713G>C (p.Ala905Pro)
c.2662G>C (p.Ala888Pro)
c.2581G>C (p.Ala861Pro)
n.2965G>C
Xg.18628464G>TCA412367367CDKL5c.2590G>T (p.Ala864Ser)
c.2713G>T (p.Ala905Ser)
c.2662G>T (p.Ala888Ser)
c.2581G>T (p.Ala861Ser)
n.2965G>T
Xg.18628465C>ACA412367371CDKL5c.2591C>A (p.Ala864Asp)
c.2714C>A (p.Ala905Asp)
c.2663C>A (p.Ala888Asp)
c.2582C>A (p.Ala861Asp)
n.2966C>A
Xg.18628465C>GCA412367373CDKL5c.2591C>G (p.Ala864Gly)
c.2714C>G (p.Ala905Gly)
c.2663C>G (p.Ala888Gly)
c.2582C>G (p.Ala861Gly)
n.2966C>G
Xg.18628465C>TCA412367375CDKL5c.2591C>T (p.Ala864Val)
c.2714C>T (p.Ala905Val)
c.2663C>T (p.Ala888Val)
c.2582C>T (p.Ala861Val)
n.2966C>T
Xg.18628466T>ACA515470621CDKL5c.2592T>A (p.Ala864=)
c.2715T>A (p.Ala905=)
c.2664T>A (p.Ala888=)
c.2583T>A (p.Ala861=)
n.2967T>A
Xg.18628466T>CCA515470622CDKL5c.2592T>C (p.Ala864=)
c.2715T>C (p.Ala905=)
c.2664T>C (p.Ala888=)
c.2583T>C (p.Ala861=)
n.2967T>C
Xg.18628466T>GCA515470624CDKL5c.2592T>G (p.Ala864=)
c.2715T>G (p.Ala905=)
c.2664T>G (p.Ala888=)
c.2583T>G (p.Ala861=)
n.2967T>G
Xg.18628466_18628490delinsTCAACAAACCAAAAATTCCTTCTCACA2417982193CDKL5c.2592_2616delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala864=)
c.2715_2739delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala905=)
c.2664_2688delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala888=)
c.2583_2607delinsTCAACAAACCAAAAATTCCTTCTCA (p.Ala861=)
n.2967_2991delinsTCAACAAACCAAAAATTCCTTCTCA
Xg.18628467C>ACA412367377CDKL5c.2593C>A (p.Gln865Lys)
c.2716C>A (p.Gln906Lys)
c.2665C>A (p.Gln889Lys)
c.2584C>A (p.Gln862Lys)
n.2968C>A
Xg.18628467C=CA2417982194CDKL5c.2593C= (p.Gln865=)
c.2716C= (p.Gln906=)
c.2665C= (p.Gln889=)
c.2584C= (p.Gln862=)
n.2968C=
Xg.18628467C>GCA412367380CDKL5c.2593C>G (p.Gln865Glu)
c.2716C>G (p.Gln906Glu)
c.2665C>G (p.Gln889Glu)
c.2584C>G (p.Gln862Glu)
n.2968C>G
Xg.18628467C>TCA171630CDKL5c.2593C>T (p.Gln865Ter)
c.2716C>T (p.Gln906Ter)
c.2665C>T (p.Gln889Ter)
c.2584C>T (p.Gln862Ter)
n.2968C>T
 ClinVar dbSNP
Xg.18628467_18628490delinsGCA658658933CDKL5c.2593_2616delinsG (p.Gln865GlyfsTer?)
c.2716_2739delinsG (p.Gln906GlyfsTer?)
c.2665_2688delinsG (p.Gln889GlyfsTer?)
c.2584_2607delinsG (p.Gln862GlyfsTer?)
n.2968_2991delinsG
 ClinVar dbSNP
Xg.18628468A>CCA412367384CDKL5c.2594A>C (p.Gln865Pro)
c.2717A>C (p.Gln906Pro)
c.2666A>C (p.Gln889Pro)
c.2585A>C (p.Gln862Pro)
n.2969A>C
Xg.18628468A>GCA412367386CDKL5c.2594A>G (p.Gln865Arg)
c.2717A>G (p.Gln906Arg)
c.2666A>G (p.Gln889Arg)
c.2585A>G (p.Gln862Arg)
n.2969A>G
Xg.18628468A>TCA412367388CDKL5c.2594A>T (p.Gln865Leu)
c.2717A>T (p.Gln906Leu)
c.2666A>T (p.Gln889Leu)
c.2585A>T (p.Gln862Leu)
n.2969A>T
Xg.18628469A>CCA412367393CDKL5c.2595A>C (p.Gln865His)
c.2718A>C (p.Gln906His)
c.2667A>C (p.Gln889His)
c.2586A>C (p.Gln862His)
n.2970A>C
Xg.18628469A>GCA515470633CDKL5c.2595A>G (p.Gln865=)
c.2718A>G (p.Gln906=)
c.2667A>G (p.Gln889=)
c.2586A>G (p.Gln862=)
n.2970A>G
 gnomAD v4 COSMIC
Xg.18628469A>TCA412367391CDKL5c.2595A>T (p.Gln865His)
c.2718A>T (p.Gln906His)
c.2667A>T (p.Gln889His)
c.2586A>T (p.Gln862His)
n.2970A>T
Xg.18628470C>ACA412367396CDKL5c.2596C>A (p.Gln866Lys)
c.2719C>A (p.Gln907Lys)
c.2668C>A (p.Gln890Lys)
c.2587C>A (p.Gln863Lys)
n.2971C>A
Xg.18628470C=CA2417982195CDKL5c.2596C= (p.Gln866=)
c.2719C= (p.Gln907=)
c.2668C= (p.Gln890=)
c.2587C= (p.Gln863=)
n.2971C=
Xg.18628470C>GCA412367398CDKL5c.2596C>G (p.Gln866Glu)
c.2719C>G (p.Gln907Glu)
c.2668C>G (p.Gln890Glu)
c.2587C>G (p.Gln863Glu)
n.2971C>G
 ClinVar
Xg.18628470C>TCA171632CDKL5c.2596C>T (p.Gln866Ter)
c.2719C>T (p.Gln907Ter)
c.2668C>T (p.Gln890Ter)
c.2587C>T (p.Gln863Ter)
n.2971C>T
 ClinVar dbSNP
Xg.18628470dupCA2819912962CDKL5c.2596dup (p.Gln866ProfsTer?)
c.2719dup (p.Gln907ProfsTer?)
c.2668dup (p.Gln890ProfsTer?)
c.2587dup (p.Gln863ProfsTer?)
n.2971dup
Xg.18628471A>CCA412367403CDKL5c.2597A>C (p.Gln866Pro)
c.2720A>C (p.Gln907Pro)
c.2669A>C (p.Gln890Pro)
c.2588A>C (p.Gln863Pro)
n.2972A>C
Xg.18628471A>GCA412367404CDKL5c.2597A>G (p.Gln866Arg)
c.2720A>G (p.Gln907Arg)
c.2669A>G (p.Gln890Arg)
c.2588A>G (p.Gln863Arg)
n.2972A>G
Xg.18628471A>TCA412367407CDKL5c.2597A>T (p.Gln866Leu)
c.2720A>T (p.Gln907Leu)
c.2669A>T (p.Gln890Leu)
c.2588A>T (p.Gln863Leu)
n.2972A>T
Xg.18628472A>CCA412367412CDKL5c.2598A>C (p.Gln866His)
c.2721A>C (p.Gln907His)
c.2670A>C (p.Gln890His)
c.2589A>C (p.Gln863His)
n.2973A>C
Xg.18628472A>GCA515470640CDKL5c.2598A>G (p.Gln866=)
c.2721A>G (p.Gln907=)
c.2670A>G (p.Gln890=)
c.2589A>G (p.Gln863=)
n.2973A>G
 gnomAD v4
Xg.18628472A>TCA412367409CDKL5c.2598A>T (p.Gln866His)
c.2721A>T (p.Gln907His)
c.2670A>T (p.Gln890His)
c.2589A>T (p.Gln863His)
n.2973A>T
Xg.18628473A>CCA412367415CDKL5c.2599A>C (p.Thr867Pro)
c.2722A>C (p.Thr908Pro)
c.2671A>C (p.Thr891Pro)
c.2590A>C (p.Thr864Pro)
n.2974A>C
Xg.18628473A>GCA412367417CDKL5c.2599A>G (p.Thr867Ala)
c.2722A>G (p.Thr908Ala)
c.2671A>G (p.Thr891Ala)
c.2590A>G (p.Thr864Ala)
n.2974A>G
Xg.18628473A>TCA412367420CDKL5c.2599A>T (p.Thr867Ser)
c.2722A>T (p.Thr908Ser)
c.2671A>T (p.Thr891Ser)
c.2590A>T (p.Thr864Ser)
n.2974A>T
Xg.18628474C>ACA412367422CDKL5c.2600C>A (p.Thr867Asn)
c.2723C>A (p.Thr908Asn)
c.2672C>A (p.Thr891Asn)
c.2591C>A (p.Thr864Asn)
n.2975C>A
Xg.18628474C>GCA412367425CDKL5c.2600C>G (p.Thr867Ser)
c.2723C>G (p.Thr908Ser)
c.2672C>G (p.Thr891Ser)
c.2591C>G (p.Thr864Ser)
n.2975C>G
Xg.18628474C>TCA412367427CDKL5c.2600C>T (p.Thr867Ile)
c.2723C>T (p.Thr908Ile)
c.2672C>T (p.Thr891Ile)
c.2591C>T (p.Thr864Ile)
n.2975C>T
Xg.18628475C>ACA515470646CDKL5c.2601C>A (p.Thr867=)
c.2724C>A (p.Thr908=)
c.2673C>A (p.Thr891=)
c.2592C>A (p.Thr864=)
n.2976C>A
Xg.18628475C>GCA515470647CDKL5c.2601C>G (p.Thr867=)
c.2724C>G (p.Thr908=)
c.2673C>G (p.Thr891=)
c.2592C>G (p.Thr864=)
n.2976C>G
Xg.18628475C>TCA515470649CDKL5c.2601C>T (p.Thr867=)
c.2724C>T (p.Thr908=)
c.2673C>T (p.Thr891=)
c.2592C>T (p.Thr864=)
n.2976C>T
Xg.18628476A>CCA412367434CDKL5c.2602A>C (p.Lys868Gln)
c.2725A>C (p.Lys909Gln)
c.2674A>C (p.Lys892Gln)
c.2593A>C (p.Lys865Gln)
n.2977A>C
Xg.18628476A>GCA412367430CDKL5c.2602A>G (p.Lys868Glu)
c.2725A>G (p.Lys909Glu)
c.2674A>G (p.Lys892Glu)
c.2593A>G (p.Lys865Glu)
n.2977A>G
Xg.18628476A>TCA412367432CDKL5c.2602A>T (p.Lys868Ter)
c.2725A>T (p.Lys909Ter)
c.2674A>T (p.Lys892Ter)
c.2593A>T (p.Lys865Ter)
n.2977A>T
Xg.18628480delCA2499226527CDKL5c.2606del (p.Asn869IlefsTer11)
c.2729del (p.Asn910IlefsTer11)
c.2678del (p.Asn893IlefsTer11)
c.2597del (p.Asn866IlefsTer11)
n.2981del
 ClinVar dbSNP
Xg.18628477A>CCA412367438CDKL5c.2603A>C (p.Lys868Thr)
c.2726A>C (p.Lys909Thr)
c.2675A>C (p.Lys892Thr)
c.2594A>C (p.Lys865Thr)
n.2978A>C
Xg.18628477A>GCA412367440CDKL5c.2603A>G (p.Lys868Arg)
c.2726A>G (p.Lys909Arg)
c.2675A>G (p.Lys892Arg)
c.2594A>G (p.Lys865Arg)
n.2978A>G
Xg.18628477A>TCA412367441CDKL5c.2603A>T (p.Lys868Ile)
c.2726A>T (p.Lys909Ile)
c.2675A>T (p.Lys892Ile)
c.2594A>T (p.Lys865Ile)
n.2978A>T
Xg.18628477_18628478insCCAAACACACCCAACACCA2819912963CDKL5c.2603_2604insCCAAACACACCCAACAC (p.Lys868AsnfsTer18)
c.2726_2727insCCAAACACACCCAACAC (p.Lys909AsnfsTer18)
c.2675_2676insCCAAACACACCCAACAC (p.Lys892AsnfsTer18)
c.2594_2595insCCAAACACACCCAACAC (p.Lys865AsnfsTer18)
n.2978_2979insCCAAACACACCCAACAC
Xg.18628478A>CCA412367443CDKL5c.2604A>C (p.Lys868Asn)
c.2727A>C (p.Lys909Asn)
c.2676A>C (p.Lys892Asn)
c.2595A>C (p.Lys865Asn)
n.2979A>C
Xg.18628478A>GCA515470655CDKL5c.2604A>G (p.Lys868=)
c.2727A>G (p.Lys909=)
c.2676A>G (p.Lys892=)
c.2595A>G (p.Lys865=)
n.2979A>G
Xg.18628478A>TCA412367445CDKL5c.2604A>T (p.Lys868Asn)
c.2727A>T (p.Lys909Asn)
c.2676A>T (p.Lys892Asn)
c.2595A>T (p.Lys865Asn)
n.2979A>T
Xg.18628478_18628479insCACACCCAACACCA2819912964CDKL5c.2604_2605insCACACCCAACAC (p.Lys868_Asn869insHisThrGlnHis)
c.2727_2728insCACACCCAACAC (p.Lys909_Asn910insHisThrGlnHis)
c.2676_2677insCACACCCAACAC (p.Lys892_Asn893insHisThrGlnHis)
c.2595_2596insCACACCCAACAC (p.Lys865_Asn866insHisThrGlnHis)
n.2979_2980insCACACCCAACAC
Xg.18628479A>CCA412367448CDKL5c.2605A>C (p.Asn869His)
c.2728A>C (p.Asn910His)
c.2677A>C (p.Asn893His)
c.2596A>C (p.Asn866His)
n.2980A>C
Xg.18628479A>GCA412367450CDKL5c.2605A>G (p.Asn869Asp)
c.2728A>G (p.Asn910Asp)
c.2677A>G (p.Asn893Asp)
c.2596A>G (p.Asn866Asp)
n.2980A>G
Xg.18628479A>TCA412367452CDKL5c.2605A>T (p.Asn869Tyr)
c.2728A>T (p.Asn910Tyr)
c.2677A>T (p.Asn893Tyr)
c.2596A>T (p.Asn866Tyr)
n.2980A>T
Xg.18628479_18628480insCCAAACACACCCAACACCA2819912965CDKL5c.2605_2606insCCAAACACACCCAACAC (p.Asn869ThrfsTer17)
c.2728_2729insCCAAACACACCCAACAC (p.Asn910ThrfsTer17)
c.2677_2678insCCAAACACACCCAACAC (p.Asn893ThrfsTer17)
c.2596_2597insCCAAACACACCCAACAC (p.Asn866ThrfsTer17)
n.2980_2981insCCAAACACACCCAACAC
Xg.18628480A=CA2417982196CDKL5c.2606A= (p.Asn869=)
c.2729A= (p.Asn910=)
c.2678A= (p.Asn893=)
c.2597A= (p.Asn866=)
n.2981A=
Xg.18628480A>CCA412367455CDKL5c.2606A>C (p.Asn869Thr)
c.2729A>C (p.Asn910Thr)
c.2678A>C (p.Asn893Thr)
c.2597A>C (p.Asn866Thr)
n.2981A>C
Xg.18628480A>GCA412367457CDKL5c.2606A>G (p.Asn869Ser)
c.2729A>G (p.Asn910Ser)
c.2678A>G (p.Asn893Ser)
c.2597A>G (p.Asn866Ser)
n.2981A>G
Xg.18628480A>TCA412367459CDKL5c.2606A>T (p.Asn869Ile)
c.2729A>T (p.Asn910Ile)
c.2678A>T (p.Asn893Ile)
c.2597A>T (p.Asn866Ile)
n.2981A>T
Xg.18628481T>ACA412367462CDKL5c.2607T>A (p.Asn869Lys)
c.2730T>A (p.Asn910Lys)
c.2679T>A (p.Asn893Lys)
c.2598T>A (p.Asn866Lys)
n.2982T>A
Xg.18628481T>CCA515470663CDKL5c.2607T>C (p.Asn869=)
c.2730T>C (p.Asn910=)
c.2679T>C (p.Asn893=)
c.2598T>C (p.Asn866=)
n.2982T>C
Xg.18628481T>GCA412367464CDKL5c.2607T>G (p.Asn869Lys)
c.2730T>G (p.Asn910Lys)
c.2679T>G (p.Asn893Lys)
c.2598T>G (p.Asn866Lys)
n.2982T>G
Xg.18628482dupCA294692CDKL5c.2608dup (p.Ser870PhefsTer?)
c.2731dup (p.Ser911PhefsTer?)
c.2680dup (p.Ser894PhefsTer?)
c.2599dup (p.Ser867PhefsTer?)
n.2983dup
 ClinVar dbSNP
Xg.18628482T>ACA412367471CDKL5c.2608T>A (p.Ser870Thr)
c.2731T>A (p.Ser911Thr)
c.2680T>A (p.Ser894Thr)
c.2599T>A (p.Ser867Thr)
n.2983T>A
Xg.18628482T>CCA412367467CDKL5c.2608T>C (p.Ser870Pro)
c.2731T>C (p.Ser911Pro)
c.2680T>C (p.Ser894Pro)
c.2599T>C (p.Ser867Pro)
n.2983T>C
Xg.18628482T>GCA412367469CDKL5c.2608T>G (p.Ser870Ala)
c.2731T>G (p.Ser911Ala)
c.2680T>G (p.Ser894Ala)
c.2599T>G (p.Ser867Ala)
n.2983T>G
Xg.18628483C>ACA412367475CDKL5c.2609C>A (p.Ser870Tyr)
c.2732C>A (p.Ser911Tyr)
c.2681C>A (p.Ser894Tyr)
c.2600C>A (p.Ser867Tyr)
n.2984C>A
 gnomAD v4
Xg.18628483C>GCA412367477CDKL5c.2609C>G (p.Ser870Cys)
c.2732C>G (p.Ser911Cys)
c.2681C>G (p.Ser894Cys)
c.2600C>G (p.Ser867Cys)
n.2984C>G
Xg.18628483C>TCA412367479CDKL5c.2609C>T (p.Ser870Phe)
c.2732C>T (p.Ser911Phe)
c.2681C>T (p.Ser894Phe)
c.2600C>T (p.Ser867Phe)
n.2984C>T
 gnomAD v4
Xg.18628484C>ACA515470671CDKL5c.2610C>A (p.Ser870=)
c.2733C>A (p.Ser911=)
c.2682C>A (p.Ser894=)
c.2601C>A (p.Ser867=)
n.2985C>A
Xg.18628484C>GCA515470668CDKL5c.2610C>G (p.Ser870=)
c.2733C>G (p.Ser911=)
c.2682C>G (p.Ser894=)
c.2601C>G (p.Ser867=)
n.2985C>G
Xg.18628484C>TCA515470667CDKL5c.2610C>T (p.Ser870=)
c.2733C>T (p.Ser911=)
c.2682C>T (p.Ser894=)
c.2601C>T (p.Ser867=)
n.2985C>T
Xg.18628485T>ACA412367481CDKL5c.2611T>A (p.Phe871Ile)
c.2734T>A (p.Phe912Ile)
c.2683T>A (p.Phe895Ile)
c.2602T>A (p.Phe868Ile)
n.2986T>A
Xg.18628485T>CCA412367483CDKL5c.2611T>C (p.Phe871Leu)
c.2734T>C (p.Phe912Leu)
c.2683T>C (p.Phe895Leu)
c.2602T>C (p.Phe868Leu)
n.2986T>C
Xg.18628485T>GCA412367485CDKL5c.2611T>G (p.Phe871Val)
c.2734T>G (p.Phe912Val)
c.2683T>G (p.Phe895Val)
c.2602T>G (p.Phe868Val)
n.2986T>G
 ClinVar dbSNP
Xg.18628486T>ACA412367493CDKL5c.2612T>A (p.Phe871Tyr)
c.2735T>A (p.Phe912Tyr)
c.2684T>A (p.Phe895Tyr)
c.2603T>A (p.Phe868Tyr)
n.2987T>A
Xg.18628486T>CCA412367488CDKL5c.2612T>C (p.Phe871Ser)
c.2735T>C (p.Phe912Ser)
c.2684T>C (p.Phe895Ser)
c.2603T>C (p.Phe868Ser)
n.2987T>C
Xg.18628486T>GCA412367490CDKL5c.2612T>G (p.Phe871Cys)
c.2735T>G (p.Phe912Cys)
c.2684T>G (p.Phe895Cys)
c.2603T>G (p.Phe868Cys)
n.2987T>G
Xg.18628487C>ACA412367494CDKL5c.2613C>A (p.Phe871Leu)
c.2736C>A (p.Phe912Leu)
c.2685C>A (p.Phe895Leu)
c.2604C>A (p.Phe868Leu)
n.2988C>A
Xg.18628487C=CA2417982197CDKL5c.2613C= (p.Phe871=)
c.2736C= (p.Phe912=)
c.2685C= (p.Phe895=)
c.2604C= (p.Phe868=)
n.2988C=
Xg.18628487C>GCA412367496CDKL5c.2613C>G (p.Phe871Leu)
c.2736C>G (p.Phe912Leu)
c.2685C>G (p.Phe895Leu)
c.2604C>G (p.Phe868Leu)
n.2988C>G
Xg.18628487C>TCA515470676CDKL5c.2613C>T (p.Phe871=)
c.2736C>T (p.Phe912=)
c.2685C>T (p.Phe895=)
c.2604C>T (p.Phe868=)
n.2988C>T
 dbSNP gnomAD v4
Xg.18628488T>ACA412367499CDKL5c.2614T>A (p.Ser872Thr)
c.2737T>A (p.Ser913Thr)
c.2686T>A (p.Ser896Thr)
c.2605T>A (p.Ser869Thr)
n.2989T>A
Xg.18628488T>CCA412367501CDKL5c.2614T>C (p.Ser872Pro)
c.2737T>C (p.Ser913Pro)
c.2686T>C (p.Ser896Pro)
c.2605T>C (p.Ser869Pro)
n.2989T>C
Xg.18628488T>GCA412367503CDKL5c.2614T>G (p.Ser872Ala)
c.2737T>G (p.Ser913Ala)
c.2686T>G (p.Ser896Ala)
c.2605T>G (p.Ser869Ala)
n.2989T>G
Xg.18628489C>ACA412367506CDKL5c.2615C>A (p.Ser872Ter)
c.2738C>A (p.Ser913Ter)
c.2687C>A (p.Ser896Ter)
c.2606C>A (p.Ser869Ter)
n.2990C>A
Xg.18628489C>GCA412367510CDKL5c.2615C>G (p.Ser872Ter)
c.2738C>G (p.Ser913Ter)
c.2687C>G (p.Ser896Ter)
c.2606C>G (p.Ser869Ter)
n.2990C>G
Xg.18628489C>TCA412367508CDKL5c.2615C>T (p.Ser872Leu)
c.2738C>T (p.Ser913Leu)
c.2687C>T (p.Ser896Leu)
c.2606C>T (p.Ser869Leu)
n.2990C>T
Xg.18628490A>CCA515470683CDKL5c.2616A>C (p.Ser872=)
c.2739A>C (p.Ser913=)
c.2688A>C (p.Ser896=)
c.2607A>C (p.Ser869=)
n.2991A>C
Xg.18628490A>GCA515470686CDKL5c.2616A>G (p.Ser872=)
c.2739A>G (p.Ser913=)
c.2688A>G (p.Ser896=)
c.2607A>G (p.Ser869=)
n.2991A>G
Xg.18628490A>TCA515470684CDKL5c.2616A>T (p.Ser872=)
c.2739A>T (p.Ser913=)
c.2688A>T (p.Ser896=)
c.2607A>T (p.Ser869=)
n.2991A>T
Xg.18628491G>ACA412367514CDKL5c.2617G>A (p.Glu873Lys)
c.2740G>A (p.Glu914Lys)
c.2689G>A (p.Glu897Lys)
c.2608G>A (p.Glu870Lys)
n.2992G>A
Xg.18628491G>CCA412367515CDKL5c.2617G>C (p.Glu873Gln)
c.2740G>C (p.Glu914Gln)
c.2689G>C (p.Glu897Gln)
c.2608G>C (p.Glu870Gln)
n.2992G>C
Xg.18628491G>TCA412367517CDKL5c.2617G>T (p.Glu873Ter)
c.2740G>T (p.Glu914Ter)
c.2689G>T (p.Glu897Ter)
c.2608G>T (p.Glu870Ter)
n.2992G>T
Xg.18628492A>CCA412367521CDKL5c.2618A>C (p.Glu873Ala)
c.2741A>C (p.Glu914Ala)
c.2690A>C (p.Glu897Ala)
c.2609A>C (p.Glu870Ala)
n.2993A>C
Xg.18628492A>GCA412367522CDKL5c.2618A>G (p.Glu873Gly)
c.2741A>G (p.Glu914Gly)
c.2690A>G (p.Glu897Gly)
c.2609A>G (p.Glu870Gly)
n.2993A>G
Xg.18628492A>TCA412367525CDKL5c.2618A>T (p.Glu873Val)
c.2741A>T (p.Glu914Val)
c.2690A>T (p.Glu897Val)
c.2609A>T (p.Glu870Val)
n.2993A>T
Xg.18628493A>CCA412367528CDKL5c.2619A>C (p.Glu873Asp)
c.2742A>C (p.Glu914Asp)
c.2691A>C (p.Glu897Asp)
c.2610A>C (p.Glu870Asp)
n.2994A>C
Xg.18628493A>GCA515470691CDKL5c.2619A>G (p.Glu873=)
c.2742A>G (p.Glu914=)
c.2691A>G (p.Glu897=)
c.2610A>G (p.Glu870=)
n.2994A>G
Xg.18628493A>TCA412367530CDKL5c.2619A>T (p.Glu873Asp)
c.2742A>T (p.Glu914Asp)
c.2691A>T (p.Glu897Asp)
c.2610A>T (p.Glu870Asp)
n.2994A>T
Xg.18628494A>CCA412367532CDKL5c.2620A>C (p.Ile874Leu)
c.2743A>C (p.Ile915Leu)
c.2692A>C (p.Ile898Leu)
c.2611A>C (p.Ile871Leu)
n.2995A>C
Xg.18628494A>GCA412367534CDKL5c.2620A>G (p.Ile874Val)
c.2743A>G (p.Ile915Val)
c.2692A>G (p.Ile898Val)
c.2611A>G (p.Ile871Val)
n.2995A>G
Xg.18628494A>TCA412367537CDKL5c.2620A>T (p.Ile874Phe)
c.2743A>T (p.Ile915Phe)
c.2692A>T (p.Ile898Phe)
c.2611A>T (p.Ile871Phe)
n.2995A>T
Xg.18628495T>ACA412367540CDKL5c.2621T>A (p.Ile874Asn)
c.2744T>A (p.Ile915Asn)
c.2693T>A (p.Ile898Asn)
c.2612T>A (p.Ile871Asn)
n.2996T>A
Xg.18628495T>CCA412367545CDKL5c.2621T>C (p.Ile874Thr)
c.2744T>C (p.Ile915Thr)
c.2693T>C (p.Ile898Thr)
c.2612T>C (p.Ile871Thr)
n.2996T>C
Xg.18628495T>GCA412367542CDKL5c.2621T>G (p.Ile874Ser)
c.2744T>G (p.Ile915Ser)
c.2693T>G (p.Ile898Ser)
c.2612T>G (p.Ile871Ser)
n.2996T>G
Xg.18628496T>ACA515470698CDKL5c.2622T>A (p.Ile874=)
c.2745T>A (p.Ile915=)
c.2694T>A (p.Ile898=)
c.2613T>A (p.Ile871=)
n.2997T>A
 gnomAD v4
Xg.18628496T>CCA515470699CDKL5c.2622T>C (p.Ile874=)
c.2745T>C (p.Ile915=)
c.2694T>C (p.Ile898=)
c.2613T>C (p.Ile871=)
n.2997T>C
 dbSNP
Xg.18628496T>GCA412367547CDKL5c.2622T>G (p.Ile874Met)
c.2745T>G (p.Ile915Met)
c.2694T>G (p.Ile898Met)
c.2613T>G (p.Ile871Met)
n.2997T>G
Xg.18628496T=CA2417982198CDKL5c.2622T= (p.Ile874=)
c.2745T= (p.Ile915=)
c.2694T= (p.Ile898=)
c.2613T= (p.Ile871=)
n.2997T=
Xg.18628497C>ACA515470701CDKL5c.2623C>A (p.Arg875=)
c.2746C>A (p.Arg916=)
c.2695C>A (p.Arg899=)
c.2614C>A (p.Arg872=)
n.2998C>A
Xg.18628497C>GCA412367551CDKL5c.2623C>G (p.Arg875Gly)
c.2746C>G (p.Arg916Gly)
c.2695C>G (p.Arg899Gly)
c.2614C>G (p.Arg872Gly)
n.2998C>G
Xg.18628497C>TCA412367552CDKL5c.2623C>T (p.Arg875Trp)
c.2746C>T (p.Arg916Trp)
c.2695C>T (p.Arg899Trp)
c.2614C>T (p.Arg872Trp)
n.2998C>T
 gnomAD v4 COSMIC
Xg.18628498G>ACA412367555CDKL5c.2624G>A (p.Arg875Gln)
c.2747G>A (p.Arg916Gln)
c.2696G>A (p.Arg899Gln)
c.2615G>A (p.Arg872Gln)
n.2999G>A
 gnomAD v4 COSMIC
Xg.18628498G>CCA412367556CDKL5c.2624G>C (p.Arg875Pro)
c.2747G>C (p.Arg916Pro)
c.2696G>C (p.Arg899Pro)
c.2615G>C (p.Arg872Pro)
n.2999G>C
Xg.18628498G>TCA412367559CDKL5c.2624G>T (p.Arg875Leu)
c.2747G>T (p.Arg916Leu)
c.2696G>T (p.Arg899Leu)
c.2615G>T (p.Arg872Leu)
n.2999G>T
Xg.18628499G>ACA515470704CDKL5c.2625G>A (p.Arg875=)
c.2748G>A (p.Arg916=)
c.2697G>A (p.Arg899=)
c.2616G>A (p.Arg872=)
n.3000G>A
Xg.18628499G>CCA515470706CDKL5c.2625G>C (p.Arg875=)
c.2748G>C (p.Arg916=)
c.2697G>C (p.Arg899=)
c.2616G>C (p.Arg872=)
n.3000G>C
 dbSNP
Xg.18628499G=CA2417982199CDKL5c.2625G= (p.Arg875=)
c.2748G= (p.Arg916=)
c.2697G= (p.Arg899=)
c.2616G= (p.Arg872=)
n.3000G=
Xg.18628499G>TCA515470708CDKL5c.2625G>T (p.Arg875=)
c.2748G>T (p.Arg916=)
c.2697G>T (p.Arg899=)
c.2616G>T (p.Arg872=)
n.3000G>T
Xg.18628500A>CCA412367562CDKL5c.2626A>C (p.Ile876Leu)
c.2749A>C (p.Ile917Leu)
c.2698A>C (p.Ile900Leu)
c.2617A>C (p.Ile873Leu)
n.3001A>C
Xg.18628500A>GCA412367564CDKL5c.2626A>G (p.Ile876Val)
c.2749A>G (p.Ile917Val)
c.2698A>G (p.Ile900Val)
c.2617A>G (p.Ile873Val)
n.3001A>G
 ClinVar gnomAD v4
Xg.18628500A>TCA412367566CDKL5c.2626A>T (p.Ile876Phe)
c.2749A>T (p.Ile917Phe)
c.2698A>T (p.Ile900Phe)
c.2617A>T (p.Ile873Phe)
n.3001A>T
Xg.18628501T>ACA412367569CDKL5c.2627T>A (p.Ile876Asn)
c.2750T>A (p.Ile917Asn)
c.2699T>A (p.Ile900Asn)
c.2618T>A (p.Ile873Asn)
n.3002T>A
Xg.18628501T>CCA412367571CDKL5c.2627T>C (p.Ile876Thr)
c.2750T>C (p.Ile917Thr)
c.2699T>C (p.Ile900Thr)
c.2618T>C (p.Ile873Thr)
n.3002T>C
Xg.18628501T>GCA412367573CDKL5c.2627T>G (p.Ile876Ser)
c.2750T>G (p.Ile917Ser)
c.2699T>G (p.Ile900Ser)
c.2618T>G (p.Ile873Ser)
n.3002T>G
Xg.18628502T>ACA515470714CDKL5c.2628T>A (p.Ile876=)
c.2751T>A (p.Ile917=)
c.2700T>A (p.Ile900=)
c.2619T>A (p.Ile873=)
n.3003T>A
Xg.18628502T>CCA515470716CDKL5c.2628T>C (p.Ile876=)
c.2751T>C (p.Ile917=)
c.2700T>C (p.Ile900=)
c.2619T>C (p.Ile873=)
n.3003T>C
Xg.18628502T>GCA412367576CDKL5c.2628T>G (p.Ile876Met)
c.2751T>G (p.Ile917Met)
c.2700T>G (p.Ile900Met)
c.2619T>G (p.Ile873Met)
n.3003T>G
Xg.18628503C>ACA412367582CDKL5c.2629C>A (p.His877Asn)
c.2752C>A (p.His918Asn)
c.2701C>A (p.His901Asn)
c.2620C>A (p.His874Asn)
n.3004C>A
Xg.18628503C>GCA412367580CDKL5c.2629C>G (p.His877Asp)
c.2752C>G (p.His918Asp)
c.2701C>G (p.His901Asp)
c.2620C>G (p.His874Asp)
n.3004C>G
Xg.18628503C>TCA412367578CDKL5c.2629C>T (p.His877Tyr)
c.2752C>T (p.His918Tyr)
c.2701C>T (p.His901Tyr)
c.2620C>T (p.His874Tyr)
n.3004C>T
 gnomAD v4
Xg.18628504A>CCA412367585CDKL5c.2630A>C (p.His877Pro)
c.2753A>C (p.His918Pro)
c.2702A>C (p.His901Pro)
c.2621A>C (p.His874Pro)
n.3005A>C
Xg.18628504A>GCA412367587CDKL5c.2630A>G (p.His877Arg)
c.2753A>G (p.His918Arg)
c.2702A>G (p.His901Arg)
c.2621A>G (p.His874Arg)
n.3005A>G
Xg.18628504A>TCA412367589CDKL5c.2630A>T (p.His877Leu)
c.2753A>T (p.His918Leu)
c.2702A>T (p.His901Leu)
c.2621A>T (p.His874Leu)
n.3005A>T
 gnomAD v4
Xg.18628505C>ACA412367592CDKL5c.2631C>A (p.His877Gln)
c.2754C>A (p.His918Gln)
c.2703C>A (p.His901Gln)
c.2622C>A (p.His874Gln)
n.3006C>A
Xg.18628505C>GCA412367595CDKL5c.2631C>G (p.His877Gln)
c.2754C>G (p.His918Gln)
c.2703C>G (p.His901Gln)
c.2622C>G (p.His874Gln)
n.3006C>G
Xg.18628505C>TCA515470719CDKL5c.2631C>T (p.His877=)
c.2754C>T (p.His918=)
c.2703C>T (p.His901=)
c.2622C>T (p.His874=)
n.3006C>T
 gnomAD v4
Xg.18628506C>ACA412367597CDKL5c.2632C>A (p.Pro878Thr)
c.2755C>A (p.Pro919Thr)
c.2704C>A (p.Pro902Thr)
c.2623C>A (p.Pro875Thr)
n.3007C>A
Xg.18628506C>GCA412367600CDKL5c.2632C>G (p.Pro878Ala)
c.2755C>G (p.Pro919Ala)
c.2704C>G (p.Pro902Ala)
c.2623C>G (p.Pro875Ala)
n.3007C>G
Xg.18628506C>TCA412367602CDKL5c.2632C>T (p.Pro878Ser)
c.2755C>T (p.Pro919Ser)
c.2704C>T (p.Pro902Ser)
c.2623C>T (p.Pro875Ser)
n.3007C>T
 gnomAD v4 COSMIC
Xg.18628507C>ACA412367605CDKL5c.2633C>A (p.Pro878His)
c.2756C>A (p.Pro919His)
c.2705C>A (p.Pro902His)
c.2624C>A (p.Pro875His)
n.3008C>A
Xg.18628507C>GCA412367606CDKL5c.2633C>G (p.Pro878Arg)
c.2756C>G (p.Pro919Arg)
c.2705C>G (p.Pro902Arg)
c.2624C>G (p.Pro875Arg)
n.3008C>G
Xg.18628507C>TCA412367609CDKL5c.2633C>T (p.Pro878Leu)
c.2756C>T (p.Pro919Leu)
c.2705C>T (p.Pro902Leu)
c.2624C>T (p.Pro875Leu)
n.3008C>T
Xg.18628508C>ACA515470724CDKL5c.2634C>A (p.Pro878=)
c.2757C>A (p.Pro919=)
c.2706C>A (p.Pro902=)
c.2625C>A (p.Pro875=)
n.3009C>A
 gnomAD v4
Xg.18628508C=CA2417982201CDKL5c.2634C= (p.Pro878=)
c.2757C= (p.Pro919=)
c.2706C= (p.Pro902=)
c.2625C= (p.Pro875=)
n.3009C=
Xg.18628508C>GCA515470725CDKL5c.2634C>G (p.Pro878=)
c.2757C>G (p.Pro919=)
c.2706C>G (p.Pro902=)
c.2625C>G (p.Pro875=)
n.3009C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628508C>TCA515470727CDKL5c.2634C>T (p.Pro878=)
c.2757C>T (p.Pro919=)
c.2706C>T (p.Pro902=)
c.2625C>T (p.Pro875=)
n.3009C>T
 gnomAD v4
Xg.18628508_18628510delinsCCTCA2417982200CDKL5c.2634_2636delinsCCT (p.Pro878=)
c.2757_2759delinsCCT (p.Pro919=)
c.2706_2708delinsCCT (p.Pro902=)
c.2625_2627delinsCCT (p.Pro875=)
n.3009_3011delinsCCT
Xg.18628509C>ACA412367612CDKL5c.2635C>A (p.Leu879Met)
c.2758C>A (p.Leu920Met)
c.2707C>A (p.Leu903Met)
c.2626C>A (p.Leu876Met)
n.3010C>A
Xg.18628509C>GCA412367613CDKL5c.2635C>G (p.Leu879Val)
c.2758C>G (p.Leu920Val)
c.2707C>G (p.Leu903Val)
c.2626C>G (p.Leu876Val)
n.3010C>G
Xg.18628509C>TCA515470731CDKL5c.2635C>T (p.Leu879=)
c.2758C>T (p.Leu920=)
c.2707C>T (p.Leu903=)
c.2626C>T (p.Leu876=)
n.3010C>T
Xg.18628509_18628510delCA171634CDKL5c.2635_2636del (p.Leu879GlufsTer?)
c.2758_2759del (p.Leu920GlufsTer?)
c.2635_2636del (p.Leu879GlufsTer30)
c.2707_2708del (p.Leu903GlufsTer30)
c.2626_2627del (p.Leu876GlufsTer30)
n.3010_3011del
 ClinVar dbSNP
Xg.18628510delCA2573055198CDKL5c.2636del (p.Leu879ArgfsTer?)
c.2759del (p.Leu920ArgfsTer?)
c.2708del (p.Leu903ArgfsTer?)
c.2627del (p.Leu876ArgfsTer?)
n.3011del
 ClinVar dbSNP
Xg.18628510T>ACA412367620CDKL5c.2636T>A (p.Leu879Gln)
c.2759T>A (p.Leu920Gln)
c.2708T>A (p.Leu903Gln)
c.2627T>A (p.Leu876Gln)
n.3011T>A
Xg.18628510T>CCA412367618CDKL5c.2636T>C (p.Leu879Pro)
c.2759T>C (p.Leu920Pro)
c.2708T>C (p.Leu903Pro)
c.2627T>C (p.Leu876Pro)
n.3011T>C
Xg.18628510T>GCA412367616CDKL5c.2636T>G (p.Leu879Arg)
c.2759T>G (p.Leu920Arg)
c.2708T>G (p.Leu903Arg)
c.2627T>G (p.Leu876Arg)
n.3011T>G
Xg.18628511G>ACA515470741CDKL5c.2637G>A (p.Leu879=)
c.2760G>A (p.Leu920=)
c.2709G>A (p.Leu903=)
c.2628G>A (p.Leu876=)
n.3012G>A
Xg.18628511G>CCA515470737CDKL5c.2637G>C (p.Leu879=)
c.2760G>C (p.Leu920=)
c.2709G>C (p.Leu903=)
c.2628G>C (p.Leu876=)
n.3012G>C
Xg.18628511G>TCA515470739CDKL5c.2637G>T (p.Leu879=)
c.2760G>T (p.Leu920=)
c.2709G>T (p.Leu903=)
c.2628G>T (p.Leu876=)
n.3012G>T
Xg.18628512A>CCA412367622CDKL5c.2638A>C (p.Ser880Arg)
c.2761A>C (p.Ser921Arg)
c.2710A>C (p.Ser904Arg)
c.2629A>C (p.Ser877Arg)
n.3013A>C
Xg.18628512A>GCA412367624CDKL5c.2638A>G (p.Ser880Gly)
c.2761A>G (p.Ser921Gly)
c.2710A>G (p.Ser904Gly)
c.2629A>G (p.Ser877Gly)
n.3013A>G
Xg.18628512A>TCA412367625CDKL5c.2638A>T (p.Ser880Cys)
c.2761A>T (p.Ser921Cys)
c.2710A>T (p.Ser904Cys)
c.2629A>T (p.Ser877Cys)
n.3013A>T
Xg.18628513G>ACA412367628CDKL5c.2639G>A (p.Ser880Asn)
c.2762G>A (p.Ser921Asn)
c.2711G>A (p.Ser904Asn)
c.2630G>A (p.Ser877Asn)
n.3014G>A
 dbSNP
Xg.18628513G>CCA412367630CDKL5c.2639G>C (p.Ser880Thr)
c.2762G>C (p.Ser921Thr)
c.2711G>C (p.Ser904Thr)
c.2630G>C (p.Ser877Thr)
n.3014G>C
Xg.18628513G=CA2417982202CDKL5c.2639G= (p.Ser880=)
c.2762G= (p.Ser921=)
c.2711G= (p.Ser904=)
c.2630G= (p.Ser877=)
n.3014G=
Xg.18628513G>TCA412367631CDKL5c.2639G>T (p.Ser880Ile)
c.2762G>T (p.Ser921Ile)
c.2711G>T (p.Ser904Ile)
c.2630G>T (p.Ser877Ile)
n.3014G>T
Xg.18628514C>ACA412367632CDKL5c.2640C>A (p.Ser880Arg)
c.2763C>A (p.Ser921Arg)
c.2712C>A (p.Ser904Arg)
c.2631C>A (p.Ser877Arg)
n.3015C>A
Xg.18628514C>GCA412367634CDKL5c.2640C>G (p.Ser880Arg)
c.2763C>G (p.Ser921Arg)
c.2712C>G (p.Ser904Arg)
c.2631C>G (p.Ser877Arg)
n.3015C>G
Xg.18628514C>TCA515470752CDKL5c.2640C>T (p.Ser880=)
c.2763C>T (p.Ser921=)
c.2712C>T (p.Ser904=)
c.2631C>T (p.Ser877=)
n.3015C>T
Xg.18628515C>ACA412367637CDKL5c.2641C>A (p.Gln881Lys)
c.2764C>A (p.Gln922Lys)
c.2713C>A (p.Gln905Lys)
c.2632C>A (p.Gln878Lys)
n.3016C>A
Xg.18628515C=CA2417982203CDKL5c.2641C= (p.Gln881=)
c.2764C= (p.Gln922=)
c.2713C= (p.Gln905=)
c.2632C= (p.Gln878=)
n.3016C=
Xg.18628515C>GCA412367639CDKL5c.2641C>G (p.Gln881Glu)
c.2764C>G (p.Gln922Glu)
c.2713C>G (p.Gln905Glu)
c.2632C>G (p.Gln878Glu)
n.3016C>G
Xg.18628515C>TCA16044338CDKL5c.2641C>T (p.Gln881Ter)
c.2764C>T (p.Gln922Ter)
c.2713C>T (p.Gln905Ter)
c.2632C>T (p.Gln878Ter)
n.3016C>T
 ClinVar dbSNP
Xg.18628516A>CCA412367643CDKL5c.2642A>C (p.Gln881Pro)
c.2765A>C (p.Gln922Pro)
c.2714A>C (p.Gln905Pro)
c.2633A>C (p.Gln878Pro)
n.3017A>C
Xg.18628516A>GCA412367645CDKL5c.2642A>G (p.Gln881Arg)
c.2765A>G (p.Gln922Arg)
c.2714A>G (p.Gln905Arg)
c.2633A>G (p.Gln878Arg)
n.3017A>G
Xg.18628516A>TCA412367647CDKL5c.2642A>T (p.Gln881Leu)
c.2765A>T (p.Gln922Leu)
c.2714A>T (p.Gln905Leu)
c.2633A>T (p.Gln878Leu)
n.3017A>T
Xg.18628517G>ACA515470760CDKL5c.2643G>A (p.Gln881=)
c.2766G>A (p.Gln922=)
c.2715G>A (p.Gln905=)
c.2634G>A (p.Gln878=)
n.3018G>A
Xg.18628517G>CCA412367650CDKL5c.2643G>C (p.Gln881His)
c.2766G>C (p.Gln922His)
c.2715G>C (p.Gln905His)
c.2634G>C (p.Gln878His)
n.3018G>C
Xg.18628517G>TCA412367653CDKL5c.2643G>T (p.Gln881His)
c.2766G>T (p.Gln922His)
c.2715G>T (p.Gln905His)
c.2634G>T (p.Gln878His)
n.3018G>T
Xg.18628517_18628518delinsTTCA645620507CDKL5c.2643_2644delinsTT (p.Gln881_Ala882delinsHisSer)
c.2766_2767delinsTT (p.Gln922_Ala923delinsHisSer)
c.2715_2716delinsTT (p.Gln905_Ala906delinsHisSer)
c.2634_2635delinsTT (p.Gln878_Ala879delinsHisSer)
n.3018_3019delinsTT
 COSMIC
Xg.18628518G>ACA412367656CDKL5c.2644G>A (p.Ala882Thr)
c.2767G>A (p.Ala923Thr)
c.2716G>A (p.Ala906Thr)
c.2635G>A (p.Ala879Thr)
n.3019G>A
Xg.18628518G>CCA412367657CDKL5c.2644G>C (p.Ala882Pro)
c.2767G>C (p.Ala923Pro)
c.2716G>C (p.Ala906Pro)
c.2635G>C (p.Ala879Pro)
n.3019G>C
Xg.18628518G=CA2417982204CDKL5c.2644G= (p.Ala882=)
c.2767G= (p.Ala923=)
c.2716G= (p.Ala906=)
c.2635G= (p.Ala879=)
n.3019G=
Xg.18628518G>TCA412367660CDKL5c.2644G>T (p.Ala882Ser)
c.2767G>T (p.Ala923Ser)
c.2716G>T (p.Ala906Ser)
c.2635G>T (p.Ala879Ser)
n.3019G>T
 dbSNP gnomAD v4
Xg.18628519C>ACA412367662CDKL5c.2645C>A (p.Ala882Asp)
c.2768C>A (p.Ala923Asp)
c.2717C>A (p.Ala906Asp)
c.2636C>A (p.Ala879Asp)
n.3020C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18628519C=CA2417982205CDKL5c.2645C= (p.Ala882=)
c.2768C= (p.Ala923=)
c.2717C= (p.Ala906=)
c.2636C= (p.Ala879=)
n.3020C=
Xg.18628519C>GCA412367664CDKL5c.2645C>G (p.Ala882Gly)
c.2768C>G (p.Ala923Gly)
c.2717C>G (p.Ala906Gly)
c.2636C>G (p.Ala879Gly)
n.3020C>G
Xg.18628519C>TCA412367670CDKL5c.2645C>T (p.Ala882Val)
c.2768C>T (p.Ala923Val)
c.2717C>T (p.Ala906Val)
c.2636C>T (p.Ala879Val)
n.3020C>T
Xg.18628520C>ACA515470768CDKL5c.2646C>A (p.Ala882=)
c.2769C>A (p.Ala923=)
c.2718C>A (p.Ala906=)
c.2637C>A (p.Ala879=)
n.3021C>A
Xg.18628520C>GCA515470771CDKL5c.2646C>G (p.Ala882=)
c.2769C>G (p.Ala923=)
c.2718C>G (p.Ala906=)
c.2637C>G (p.Ala879=)
n.3021C>G
Xg.18628520C>TCA515470773CDKL5c.2646C>T (p.Ala882=)
c.2769C>T (p.Ala923=)
c.2718C>T (p.Ala906=)
c.2637C>T (p.Ala879=)
n.3021C>T
Xg.18628521T>ACA412367673CDKL5c.2647T>A (p.Ser883Thr)
c.2770T>A (p.Ser924Thr)
c.2719T>A (p.Ser907Thr)
c.2638T>A (p.Ser880Thr)
n.3022T>A
Xg.18628521T>CCA412367674CDKL5c.2647T>C (p.Ser883Pro)
c.2770T>C (p.Ser924Pro)
c.2719T>C (p.Ser907Pro)
c.2638T>C (p.Ser880Pro)
n.3022T>C
Xg.18628521T>GCA412367676CDKL5c.2647T>G (p.Ser883Ala)
c.2770T>G (p.Ser924Ala)
c.2719T>G (p.Ser907Ala)
c.2638T>G (p.Ser880Ala)
n.3022T>G
Xg.18628522C>ACA412367680CDKL5c.2648C>A (p.Ser883Tyr)
c.2771C>A (p.Ser924Tyr)
c.2720C>A (p.Ser907Tyr)
c.2639C>A (p.Ser880Tyr)
n.3023C>A
Xg.18628522C>GCA412367682CDKL5c.2648C>G (p.Ser883Cys)
c.2771C>G (p.Ser924Cys)
c.2720C>G (p.Ser907Cys)
c.2639C>G (p.Ser880Cys)
n.3023C>G
Xg.18628522C>TCA412367684CDKL5c.2648C>T (p.Ser883Phe)
c.2771C>T (p.Ser924Phe)
c.2720C>T (p.Ser907Phe)
c.2639C>T (p.Ser880Phe)
n.3023C>T
Xg.18628523T>ACA515470779CDKL5c.2649T>A (p.Ser883=)
c.2772T>A (p.Ser924=)
c.2721T>A (p.Ser907=)
c.2640T>A (p.Ser880=)
n.3024T>A
Xg.18628523T>CCA515470780CDKL5c.2649T>C (p.Ser883=)
c.2772T>C (p.Ser924=)
c.2721T>C (p.Ser907=)
c.2640T>C (p.Ser880=)
n.3024T>C
Xg.18628523T>GCA515470781CDKL5c.2649T>G (p.Ser883=)
c.2772T>G (p.Ser924=)
c.2721T>G (p.Ser907=)
c.2640T>G (p.Ser880=)
n.3024T>G
Xg.18628524G>ACA412367688CDKL5c.2650G>A (p.Gly884Ser)
c.2773G>A (p.Gly925Ser)
c.2722G>A (p.Gly908Ser)
c.2641G>A (p.Gly881Ser)
n.3025G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628524G>CCA412367691CDKL5c.2650G>C (p.Gly884Arg)
c.2773G>C (p.Gly925Arg)
c.2722G>C (p.Gly908Arg)
c.2641G>C (p.Gly881Arg)
n.3025G>C
Xg.18628524G=CA2417982206CDKL5c.2650G= (p.Gly884=)
c.2773G= (p.Gly925=)
c.2722G= (p.Gly908=)
c.2641G= (p.Gly881=)
n.3025G=
Xg.18628524G>TCA412367690CDKL5c.2650G>T (p.Gly884Cys)
c.2773G>T (p.Gly925Cys)
c.2722G>T (p.Gly908Cys)
c.2641G>T (p.Gly881Cys)
n.3025G>T
Xg.18628525G>ACA412367694CDKL5c.2651G>A (p.Gly884Asp)
c.2774G>A (p.Gly925Asp)
c.2723G>A (p.Gly908Asp)
c.2642G>A (p.Gly881Asp)
n.3026G>A
Xg.18628525G>CCA412367696CDKL5c.2651G>C (p.Gly884Ala)
c.2774G>C (p.Gly925Ala)
c.2723G>C (p.Gly908Ala)
c.2642G>C (p.Gly881Ala)
n.3026G>C
Xg.18628525G>TCA412367698CDKL5c.2651G>T (p.Gly884Val)
c.2774G>T (p.Gly925Val)
c.2723G>T (p.Gly908Val)
c.2642G>T (p.Gly881Val)
n.3026G>T
Xg.18628526C>ACA515470790CDKL5c.2652C>A (p.Gly884=)
c.2775C>A (p.Gly925=)
c.2724C>A (p.Gly908=)
c.2643C>A (p.Gly881=)
n.3027C>A
Xg.18628526C=CA2417982207CDKL5c.2652C= (p.Gly884=)
c.2775C= (p.Gly925=)
c.2724C= (p.Gly908=)
c.2643C= (p.Gly881=)
n.3027C=
Xg.18628526C>GCA515470791CDKL5c.2652C>G (p.Gly884=)
c.2775C>G (p.Gly925=)
c.2724C>G (p.Gly908=)
c.2643C>G (p.Gly881=)
n.3027C>G
Xg.18628526C>TCA10360570CDKL5c.2652C>T (p.Gly884=)
c.2775C>T (p.Gly925=)
c.2724C>T (p.Gly908=)
c.2643C>T (p.Gly881=)
n.3027C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628527G>ACA171635CDKL5c.2653G>A (p.Gly885Arg)
c.2776G>A (p.Gly926Arg)
c.2725G>A (p.Gly909Arg)
c.2644G>A (p.Gly882Arg)
n.3028G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18628527G>CCA412367703CDKL5c.2653G>C (p.Gly885Arg)
c.2776G>C (p.Gly926Arg)
c.2725G>C (p.Gly909Arg)
c.2644G>C (p.Gly882Arg)
n.3028G>C
Xg.18628527G=CA2417982208CDKL5c.2653G= (p.Gly885=)
c.2776G= (p.Gly926=)
c.2725G= (p.Gly909=)
c.2644G= (p.Gly882=)
n.3028G=
Xg.18628527G>TCA412367705CDKL5c.2653G>T (p.Gly885Trp)
c.2776G>T (p.Gly926Trp)
c.2725G>T (p.Gly909Trp)
c.2644G>T (p.Gly882Trp)
n.3028G>T
Xg.18628528G>ACA412367707CDKL5c.2654G>A (p.Gly885Glu)
c.2777G>A (p.Gly926Glu)
c.2726G>A (p.Gly909Glu)
c.2645G>A (p.Gly882Glu)
n.3029G>A
Xg.18628528G>CCA412367709CDKL5c.2654G>C (p.Gly885Ala)
c.2777G>C (p.Gly926Ala)
c.2726G>C (p.Gly909Ala)
c.2645G>C (p.Gly882Ala)
n.3029G>C
Xg.18628528G>TCA412367712CDKL5c.2654G>T (p.Gly885Val)
c.2777G>T (p.Gly926Val)
c.2726G>T (p.Gly909Val)
c.2645G>T (p.Gly882Val)
n.3029G>T
Xg.18628529G>ACA515470804CDKL5c.2655G>A (p.Gly885=)
c.2778G>A (p.Gly926=)
c.2727G>A (p.Gly909=)
c.2646G>A (p.Gly882=)
n.3030G>A
 ClinVar dbSNP gnomAD v4
Xg.18628529G>CCA515470805CDKL5c.2655G>C (p.Gly885=)
c.2778G>C (p.Gly926=)
c.2727G>C (p.Gly909=)
c.2646G>C (p.Gly882=)
n.3030G>C
Xg.18628529G=CA2417982209CDKL5c.2655G= (p.Gly885=)
c.2778G= (p.Gly926=)
c.2727G= (p.Gly909=)
c.2646G= (p.Gly882=)
n.3030G=
Xg.18628529G>TCA515470806CDKL5c.2655G>T (p.Gly885=)
c.2778G>T (p.Gly926=)
c.2727G>T (p.Gly909=)
c.2646G>T (p.Gly882=)
n.3030G>T
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

Number of alleles fetched