Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18628317G>ACA873677899CDKL5c.2497-54G>A (n.2497-54G>A)
c.2620-54G>A (n.2620-54G>A)
c.2569-54G>A (n.2569-54G>A)
c.2488-54G>A (n.2488-54G>A)
n.2872-54G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18628317G=CA2417982129CDKL5c.2497-54G= (n.2497-54G=)
c.2620-54G= (n.2620-54G=)
c.2569-54G= (n.2569-54G=)
c.2488-54G= (n.2488-54G=)
n.2872-54G=
Xg.18628318C>ACA2693224073CDKL5c.2497-53C>A (n.2497-53C>A)
c.2620-53C>A (n.2620-53C>A)
c.2569-53C>A (n.2569-53C>A)
c.2488-53C>A (n.2488-53C>A)
n.2872-53C>A
 gnomAD v4
Xg.18628318C=CA2417982130CDKL5c.2497-53C= (n.2497-53C=)
c.2620-53C= (n.2620-53C=)
c.2569-53C= (n.2569-53C=)
c.2488-53C= (n.2488-53C=)
n.2872-53C=
Xg.18628318C>GCA2693224074CDKL5c.2497-53C>G (n.2497-53C>G)
c.2620-53C>G (n.2620-53C>G)
c.2569-53C>G (n.2569-53C>G)
c.2488-53C>G (n.2488-53C>G)
n.2872-53C>G
 gnomAD v4
Xg.18628318C>TCA2417982131CDKL5c.2497-53C>T (n.2497-53C>T)
c.2620-53C>T (n.2620-53C>T)
c.2569-53C>T (n.2569-53C>T)
c.2488-53C>T (n.2488-53C>T)
n.2872-53C>T
 dbSNP
Xg.18628319C=CA2417982132CDKL5c.2497-52C= (n.2497-52C=)
c.2620-52C= (n.2620-52C=)
c.2569-52C= (n.2569-52C=)
c.2488-52C= (n.2488-52C=)
n.2872-52C=
Xg.18628319C>GCA1131402208CDKL5c.2497-52C>G (n.2497-52C>G)
c.2620-52C>G (n.2620-52C>G)
c.2569-52C>G (n.2569-52C>G)
c.2488-52C>G (n.2488-52C>G)
n.2872-52C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18628319_18628320delinsCTCA2417982133CDKL5c.2497-52_2497-51delinsCT (n.2497-52_2497-51delinsCT)
c.2620-52_2620-51delinsCT (n.2620-52_2620-51delinsCT)
c.2569-52_2569-51delinsCT (n.2569-52_2569-51delinsCT)
c.2488-52_2488-51delinsCT (n.2488-52_2488-51delinsCT)
n.2872-52_2872-51delinsCT
Xg.18628320T>CCA2693224075CDKL5c.2497-51T>C (n.2497-51T>C)
c.2620-51T>C (n.2620-51T>C)
c.2569-51T>C (n.2569-51T>C)
c.2488-51T>C (n.2488-51T>C)
n.2872-51T>C
 gnomAD v4
Xg.18628320T>GCA10360552CDKL5c.2497-51T>G (n.2497-51T>G)
c.2620-51T>G (n.2620-51T>G)
c.2569-51T>G (n.2569-51T>G)
c.2488-51T>G (n.2488-51T>G)
n.2872-51T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628320T=CA2417982134CDKL5c.2497-51T= (n.2497-51T=)
c.2620-51T= (n.2620-51T=)
c.2569-51T= (n.2569-51T=)
c.2488-51T= (n.2488-51T=)
n.2872-51T=
Xg.18628321delCA1131402214CDKL5c.2497-50del (n.2497-50del)
c.2620-50del (n.2620-50del)
c.2569-50del (n.2569-50del)
c.2488-50del (n.2488-50del)
n.2872-50del
 dbSNP gnomAD v3 gnomAD v4
Xg.18628322A=CA2417982135CDKL5c.2497-49A= (n.2497-49A=)
c.2620-49A= (n.2620-49A=)
c.2569-49A= (n.2569-49A=)
c.2488-49A= (n.2488-49A=)
n.2872-49A=
Xg.18628322A>GCA10360553CDKL5c.2497-49A>G (n.2497-49A>G)
c.2620-49A>G (n.2620-49A>G)
c.2569-49A>G (n.2569-49A>G)
c.2488-49A>G (n.2488-49A>G)
n.2872-49A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628323T>CCA10360554CDKL5c.2497-48T>C (n.2497-48T>C)
c.2620-48T>C (n.2620-48T>C)
c.2569-48T>C (n.2569-48T>C)
c.2488-48T>C (n.2488-48T>C)
n.2872-48T>C
 dbSNP ExAC gnomAD v2
Xg.18628323T=CA2417982136CDKL5c.2497-48T= (n.2497-48T=)
c.2620-48T= (n.2620-48T=)
c.2569-48T= (n.2569-48T=)
c.2488-48T= (n.2488-48T=)
n.2872-48T=
Xg.18628327C>ACA2579563121CDKL5c.2497-44C>A (n.2497-44C>A)
c.2620-44C>A (n.2620-44C>A)
c.2569-44C>A (n.2569-44C>A)
c.2488-44C>A (n.2488-44C>A)
n.2872-44C>A
 gnomAD v4
Xg.18628327C=CA2417982137CDKL5c.2497-44C= (n.2497-44C=)
c.2620-44C= (n.2620-44C=)
c.2569-44C= (n.2569-44C=)
c.2488-44C= (n.2488-44C=)
n.2872-44C=
Xg.18628327C>GCA2693224076CDKL5c.2497-44C>G (n.2497-44C>G)
c.2620-44C>G (n.2620-44C>G)
c.2569-44C>G (n.2569-44C>G)
c.2488-44C>G (n.2488-44C>G)
n.2872-44C>G
 gnomAD v4
Xg.18628327C>TCA640856759CDKL5c.2497-44C>T (n.2497-44C>T)
c.2620-44C>T (n.2620-44C>T)
c.2569-44C>T (n.2569-44C>T)
c.2488-44C>T (n.2488-44C>T)
n.2872-44C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628328G>ACA10360555CDKL5c.2497-43G>A (n.2497-43G>A)
c.2620-43G>A (n.2620-43G>A)
c.2569-43G>A (n.2569-43G>A)
c.2488-43G>A (n.2488-43G>A)
n.2872-43G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628328G>CCA2417982139CDKL5c.2497-43G>C (n.2497-43G>C)
c.2620-43G>C (n.2620-43G>C)
c.2569-43G>C (n.2569-43G>C)
c.2488-43G>C (n.2488-43G>C)
n.2872-43G>C
 dbSNP
Xg.18628328G=CA2417982138CDKL5c.2497-43G= (n.2497-43G=)
c.2620-43G= (n.2620-43G=)
c.2569-43G= (n.2569-43G=)
c.2488-43G= (n.2488-43G=)
n.2872-43G=
Xg.18628328G>TCA2579563122CDKL5c.2497-43G>T (n.2497-43G>T)
c.2620-43G>T (n.2620-43G>T)
c.2569-43G>T (n.2569-43G>T)
c.2488-43G>T (n.2488-43G>T)
n.2872-43G>T
 dbSNP gnomAD v4
Xg.18628329C>GCA2693224077CDKL5c.2497-42C>G (n.2497-42C>G)
c.2620-42C>G (n.2620-42C>G)
c.2569-42C>G (n.2569-42C>G)
c.2488-42C>G (n.2488-42C>G)
n.2872-42C>G
 gnomAD v4
Xg.18628333A>GCA2693224079CDKL5c.2497-38A>G (n.2497-38A>G)
c.2620-38A>G (n.2620-38A>G)
c.2569-38A>G (n.2569-38A>G)
c.2488-38A>G (n.2488-38A>G)
n.2872-38A>G
 gnomAD v4
Xg.18628334delCA2693224078CDKL5c.2497-37del (n.2497-37del)
c.2620-37del (n.2620-37del)
c.2569-37del (n.2569-37del)
c.2488-37del (n.2488-37del)
n.2872-37del
 gnomAD v4
Xg.18628334A=CA2417982140CDKL5c.2497-37A= (n.2497-37A=)
c.2620-37A= (n.2620-37A=)
c.2569-37A= (n.2569-37A=)
c.2488-37A= (n.2488-37A=)
n.2872-37A=
Xg.18628334A>CCA640856760CDKL5c.2497-37A>C (n.2497-37A>C)
c.2620-37A>C (n.2620-37A>C)
c.2569-37A>C (n.2569-37A>C)
c.2488-37A>C (n.2488-37A>C)
n.2872-37A>C
 dbSNP gnomAD v2 gnomAD v4
Xg.18628335C>ACA2693224080CDKL5c.2497-36C>A (n.2497-36C>A)
c.2620-36C>A (n.2620-36C>A)
c.2569-36C>A (n.2569-36C>A)
c.2488-36C>A (n.2488-36C>A)
n.2872-36C>A
 gnomAD v4
Xg.18628335C=CA2417982141CDKL5c.2497-36C= (n.2497-36C=)
c.2620-36C= (n.2620-36C=)
c.2569-36C= (n.2569-36C=)
c.2488-36C= (n.2488-36C=)
n.2872-36C=
Xg.18628335C>GCA2417982142CDKL5c.2497-36C>G (n.2497-36C>G)
c.2620-36C>G (n.2620-36C>G)
c.2569-36C>G (n.2569-36C>G)
c.2488-36C>G (n.2488-36C>G)
n.2872-36C>G
 dbSNP
Xg.18628335C>TCA640856761CDKL5c.2497-36C>T (n.2497-36C>T)
c.2620-36C>T (n.2620-36C>T)
c.2569-36C>T (n.2569-36C>T)
c.2488-36C>T (n.2488-36C>T)
n.2872-36C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628337T>GCA1131402224CDKL5c.2497-34T>G (n.2497-34T>G)
c.2620-34T>G (n.2620-34T>G)
c.2569-34T>G (n.2569-34T>G)
c.2488-34T>G (n.2488-34T>G)
n.2872-34T>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18628337T=CA2417982143CDKL5c.2497-34T= (n.2497-34T=)
c.2620-34T= (n.2620-34T=)
c.2569-34T= (n.2569-34T=)
c.2488-34T= (n.2488-34T=)
n.2872-34T=
Xg.18628338G>ACA2693224081CDKL5c.2497-33G>A (n.2497-33G>A)
c.2620-33G>A (n.2620-33G>A)
c.2569-33G>A (n.2569-33G>A)
c.2488-33G>A (n.2488-33G>A)
n.2872-33G>A
 gnomAD v4
Xg.18628339A>GCA2693224082CDKL5c.2497-32A>G (n.2497-32A>G)
c.2620-32A>G (n.2620-32A>G)
c.2569-32A>G (n.2569-32A>G)
c.2488-32A>G (n.2488-32A>G)
n.2872-32A>G
 gnomAD v4
Xg.18628343C=CA2417982144CDKL5c.2497-28C= (n.2497-28C=)
c.2620-28C= (n.2620-28C=)
c.2569-28C= (n.2569-28C=)
c.2488-28C= (n.2488-28C=)
n.2872-28C=
Xg.18628343C>TCA640856762CDKL5c.2497-28C>T (n.2497-28C>T)
c.2620-28C>T (n.2620-28C>T)
c.2569-28C>T (n.2569-28C>T)
c.2488-28C>T (n.2488-28C>T)
n.2872-28C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18628344T>CCA10360556CDKL5c.2497-27T>C (n.2497-27T>C)
c.2620-27T>C (n.2620-27T>C)
c.2569-27T>C (n.2569-27T>C)
c.2488-27T>C (n.2488-27T>C)
n.2872-27T>C
 dbSNP ExAC gnomAD v2
Xg.18628344T=CA2417982145CDKL5c.2497-27T= (n.2497-27T=)
c.2620-27T= (n.2620-27T=)
c.2569-27T= (n.2569-27T=)
c.2488-27T= (n.2488-27T=)
n.2872-27T=
Xg.18628345G>ACA2693224083CDKL5c.2497-26G>A (n.2497-26G>A)
c.2620-26G>A (n.2620-26G>A)
c.2569-26G>A (n.2569-26G>A)
c.2488-26G>A (n.2488-26G>A)
n.2872-26G>A
 gnomAD v4
Xg.18628347G>ACA2417982146CDKL5c.2497-24G>A (n.2497-24G>A)
c.2620-24G>A (n.2620-24G>A)
c.2569-24G>A (n.2569-24G>A)
c.2488-24G>A (n.2488-24G>A)
n.2872-24G>A
 dbSNP
Xg.18628347G=CA2417982147CDKL5c.2497-24G= (n.2497-24G=)
c.2620-24G= (n.2620-24G=)
c.2569-24G= (n.2569-24G=)
c.2488-24G= (n.2488-24G=)
n.2872-24G=
Xg.18628349G>ACA2579563123CDKL5c.2497-22G>A (n.2497-22G>A)
c.2620-22G>A (n.2620-22G>A)
c.2569-22G>A (n.2569-22G>A)
c.2488-22G>A (n.2488-22G>A)
n.2872-22G>A
Xg.18628350C=CA2417982148CDKL5c.2497-21C= (n.2497-21C=)
c.2620-21C= (n.2620-21C=)
c.2569-21C= (n.2569-21C=)
c.2488-21C= (n.2488-21C=)
n.2872-21C=
Xg.18628350C>TCA2417982149CDKL5c.2497-21C>T (n.2497-21C>T)
c.2620-21C>T (n.2620-21C>T)
c.2569-21C>T (n.2569-21C>T)
c.2488-21C>T (n.2488-21C>T)
n.2872-21C>T
 dbSNP gnomAD v4
Xg.18628351A=CA2417982151CDKL5c.2497-20A= (n.2497-20A=)
c.2620-20A= (n.2620-20A=)
c.2569-20A= (n.2569-20A=)
c.2488-20A= (n.2488-20A=)
n.2872-20A=
Xg.18628351A>GCA2417982152CDKL5c.2497-20A>G (n.2497-20A>G)
c.2620-20A>G (n.2620-20A>G)
c.2569-20A>G (n.2569-20A>G)
c.2488-20A>G (n.2488-20A>G)
n.2872-20A>G
 dbSNP gnomAD v4
Xg.18628351_18628352delinsATCA2417982150CDKL5c.2497-20_2497-19delinsAT (n.2497-20_2497-19delinsAT)
c.2620-20_2620-19delinsAT (n.2620-20_2620-19delinsAT)
c.2569-20_2569-19delinsAT (n.2569-20_2569-19delinsAT)
c.2488-20_2488-19delinsAT (n.2488-20_2488-19delinsAT)
n.2872-20_2872-19delinsAT
Xg.18628353delCA10360557CDKL5c.2497-18del (n.2497-18del)
c.2620-18del (n.2620-18del)
c.2569-18del (n.2569-18del)
c.2488-18del (n.2488-18del)
n.2872-18del
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628354C>ACA327009017CDKL5c.2497-17C>A (n.2497-17C>A)
c.2620-17C>A (n.2620-17C>A)
c.2569-17C>A (n.2569-17C>A)
c.2488-17C>A (n.2488-17C>A)
n.2872-17C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18628354C=CA2417982153CDKL5c.2497-17C= (n.2497-17C=)
c.2620-17C= (n.2620-17C=)
c.2569-17C= (n.2569-17C=)
c.2488-17C= (n.2488-17C=)
n.2872-17C=
Xg.18628354C>TCA10360558CDKL5c.2497-17C>T (n.2497-17C>T)
c.2620-17C>T (n.2620-17C>T)
c.2569-17C>T (n.2569-17C>T)
c.2488-17C>T (n.2488-17C>T)
n.2872-17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628356C=CA2417982154CDKL5c.2497-15C= (n.2497-15C=)
c.2620-15C= (n.2620-15C=)
c.2569-15C= (n.2569-15C=)
c.2488-15C= (n.2488-15C=)
n.2872-15C=
Xg.18628356C>TCA1131402241CDKL5c.2497-15C>T (n.2497-15C>T)
c.2620-15C>T (n.2620-15C>T)
c.2569-15C>T (n.2569-15C>T)
c.2488-15C>T (n.2488-15C>T)
n.2872-15C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18628358_18628359delinsTCCA2417982155CDKL5c.2497-13_2497-12delinsTC (n.2497-13_2497-12delinsTC)
c.2620-13_2620-12delinsTC (n.2620-13_2620-12delinsTC)
c.2569-13_2569-12delinsTC (n.2569-13_2569-12delinsTC)
c.2488-13_2488-12delinsTC (n.2488-13_2488-12delinsTC)
n.2872-13_2872-12delinsTC
Xg.18628360delCA2417982156CDKL5c.2497-11del (n.2497-11del)
c.2620-11del (n.2620-11del)
c.2569-11del (n.2569-11del)
c.2488-11del (n.2488-11del)
n.2872-11del
 dbSNP
Xg.18628360C=CA2417982157CDKL5c.2497-11C= (n.2497-11C=)
c.2620-11C= (n.2620-11C=)
c.2569-11C= (n.2569-11C=)
c.2488-11C= (n.2488-11C=)
n.2872-11C=
Xg.18628360C>GCA2693224084CDKL5c.2497-11C>G (n.2497-11C>G)
c.2620-11C>G (n.2620-11C>G)
c.2569-11C>G (n.2569-11C>G)
c.2488-11C>G (n.2488-11C>G)
n.2872-11C>G
 gnomAD v4
Xg.18628360C>TCA640856763CDKL5c.2497-11C>T (n.2497-11C>T)
c.2620-11C>T (n.2620-11C>T)
c.2569-11C>T (n.2569-11C>T)
c.2488-11C>T (n.2488-11C>T)
n.2872-11C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628365_18628368delCA2580615393CDKL5c.2497-6_2497-3del (n.2497-6_2497-3del)
c.2620-6_2620-3del (n.2620-6_2620-3del)
c.2569-6_2569-3del (n.2569-6_2569-3del)
c.2488-6_2488-3del (n.2488-6_2488-3del)
n.2872-6_2872-3del
 ClinVar dbSNP gnomAD v4
Xg.18628360_18628371delCA2579563124CDKL5c.2497-11_2497del
c.2620-11_2620del
c.2569-11_2569del
c.2488-11_2488del
n.2872-11_2872del
Xg.18628361T>GCA16608361CDKL5c.2497-10T>G (n.2497-10T>G)
c.2620-10T>G (n.2620-10T>G)
c.2569-10T>G (n.2569-10T>G)
c.2488-10T>G (n.2488-10T>G)
n.2872-10T>G
 ClinVar dbSNP
Xg.18628361T=CA2417982158CDKL5c.2497-10T= (n.2497-10T=)
c.2620-10T= (n.2620-10T=)
c.2569-10T= (n.2569-10T=)
c.2488-10T= (n.2488-10T=)
n.2872-10T=
Xg.18628364C=CA2417982159CDKL5c.2497-7C= (n.2497-7C=)
c.2620-7C= (n.2620-7C=)
c.2569-7C= (n.2569-7C=)
c.2488-7C= (n.2488-7C=)
n.2872-7C=
Xg.18628364C>TCA2417982160CDKL5c.2497-7C>T (n.2497-7C>T)
c.2620-7C>T (n.2620-7C>T)
c.2569-7C>T (n.2569-7C>T)
c.2488-7C>T (n.2488-7C>T)
n.2872-7C>T
 dbSNP gnomAD v4
Xg.18628368C=CA2417982161CDKL5c.2497-3C= (n.2497-3C=)
c.2620-3C= (n.2620-3C=)
c.2569-3C= (n.2569-3C=)
c.2488-3C= (n.2488-3C=)
n.2872-3C=
Xg.18628368C>TCA327009021CDKL5c.2497-3C>T (n.2497-3C>T)
c.2620-3C>T (n.2620-3C>T)
c.2569-3C>T (n.2569-3C>T)
c.2488-3C>T (n.2488-3C>T)
n.2872-3C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18628369A>CCA412366862CDKL5c.2497-2A>C (n.2497-2A>C)
c.2620-2A>C (n.2620-2A>C)
c.2569-2A>C (n.2569-2A>C)
c.2488-2A>C (n.2488-2A>C)
n.2872-2A>C
Xg.18628369A>GCA412366864CDKL5c.2497-2A>G (n.2497-2A>G)
c.2620-2A>G (n.2620-2A>G)
c.2569-2A>G (n.2569-2A>G)
c.2488-2A>G (n.2488-2A>G)
n.2872-2A>G
 gnomAD v4
Xg.18628369A>TCA412366867CDKL5c.2497-2A>T (n.2497-2A>T)
c.2620-2A>T (n.2620-2A>T)
c.2569-2A>T (n.2569-2A>T)
c.2488-2A>T (n.2488-2A>T)
n.2872-2A>T
Xg.18628370G>ACA412366871CDKL5c.2497-1G>A (n.2497-1G>A)
c.2620-1G>A (n.2620-1G>A)
c.2569-1G>A (n.2569-1G>A)
c.2488-1G>A (n.2488-1G>A)
n.2872-1G>A
Xg.18628370G>CCA412366873CDKL5c.2497-1G>C (n.2497-1G>C)
c.2620-1G>C (n.2620-1G>C)
c.2569-1G>C (n.2569-1G>C)
c.2488-1G>C (n.2488-1G>C)
n.2872-1G>C
Xg.18628370G>TCA412366875CDKL5c.2497-1G>T (n.2497-1G>T)
c.2620-1G>T (n.2620-1G>T)
c.2569-1G>T (n.2569-1G>T)
c.2488-1G>T (n.2488-1G>T)
n.2872-1G>T
Xg.18628371A>CCA412366878CDKL5c.2497A>C (p.Ser833Arg)
c.2620A>C (p.Ser874Arg)
c.2569A>C (p.Ser857Arg)
c.2488A>C (p.Ser830Arg)
n.2872A>C
Xg.18628371A>GCA412366880CDKL5c.2497A>G (p.Ser833Gly)
c.2620A>G (p.Ser874Gly)
c.2569A>G (p.Ser857Gly)
c.2488A>G (p.Ser830Gly)
n.2872A>G
Xg.18628371A>TCA412366882CDKL5c.2497A>T (p.Ser833Cys)
c.2620A>T (p.Ser874Cys)
c.2569A>T (p.Ser857Cys)
c.2488A>T (p.Ser830Cys)
n.2872A>T
Xg.18628372G>ACA412366884CDKL5c.2498G>A (p.Ser833Asn)
c.2621G>A (p.Ser874Asn)
c.2570G>A (p.Ser857Asn)
c.2489G>A (p.Ser830Asn)
n.2873G>A
Xg.18628372G>CCA10360559CDKL5c.2498G>C (p.Ser833Thr)
c.2621G>C (p.Ser874Thr)
c.2570G>C (p.Ser857Thr)
c.2489G>C (p.Ser830Thr)
n.2873G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18628372G=CA2417982162CDKL5c.2498G= (p.Ser833=)
c.2621G= (p.Ser874=)
c.2570G= (p.Ser857=)
c.2489G= (p.Ser830=)
n.2873G=
Xg.18628372G>TCA412366888CDKL5c.2498G>T (p.Ser833Ile)
c.2621G>T (p.Ser874Ile)
c.2570G>T (p.Ser857Ile)
c.2489G>T (p.Ser830Ile)
n.2873G>T
Xg.18628373C>ACA412366891CDKL5c.2499C>A (p.Ser833Arg)
c.2622C>A (p.Ser874Arg)
c.2571C>A (p.Ser857Arg)
c.2490C>A (p.Ser830Arg)
n.2874C>A
Xg.18628373C>GCA412366893CDKL5c.2499C>G (p.Ser833Arg)
c.2622C>G (p.Ser874Arg)
c.2571C>G (p.Ser857Arg)
c.2490C>G (p.Ser830Arg)
n.2874C>G
Xg.18628373C>TCA515470540CDKL5c.2499C>T (p.Ser833=)
c.2622C>T (p.Ser874=)
c.2571C>T (p.Ser857=)
c.2490C>T (p.Ser830=)
n.2874C>T
Xg.18628374C>ACA412366896CDKL5c.2500C>A (p.Gln834Lys)
c.2623C>A (p.Gln875Lys)
c.2572C>A (p.Gln858Lys)
c.2491C>A (p.Gln831Lys)
n.2875C>A
Xg.18628374C=CA2417982163CDKL5c.2500C= (p.Gln834=)
c.2623C= (p.Gln875=)
c.2572C= (p.Gln858=)
c.2491C= (p.Gln831=)
n.2875C=
Xg.18628374C>GCA412366898CDKL5c.2500C>G (p.Gln834Glu)
c.2623C>G (p.Gln875Glu)
c.2572C>G (p.Gln858Glu)
c.2491C>G (p.Gln831Glu)
n.2875C>G
Xg.18628374C>TCA121519CDKL5c.2500C>T (p.Gln834Ter)
c.2623C>T (p.Gln875Ter)
c.2572C>T (p.Gln858Ter)
c.2491C>T (p.Gln831Ter)
n.2875C>T
 ClinVar dbSNP
Xg.18628375A>CCA412366903CDKL5c.2501A>C (p.Gln834Pro)
c.2624A>C (p.Gln875Pro)
c.2573A>C (p.Gln858Pro)
c.2492A>C (p.Gln831Pro)
n.2876A>C
Xg.18628375A>GCA412366905CDKL5c.2501A>G (p.Gln834Arg)
c.2624A>G (p.Gln875Arg)
c.2573A>G (p.Gln858Arg)
c.2492A>G (p.Gln831Arg)
n.2876A>G
Xg.18628375A>TCA412366908CDKL5c.2501A>T (p.Gln834Leu)
c.2624A>T (p.Gln875Leu)
c.2573A>T (p.Gln858Leu)
c.2492A>T (p.Gln831Leu)
n.2876A>T
Xg.18628376G>ACA515470542CDKL5c.2502G>A (p.Gln834=)
c.2625G>A (p.Gln875=)
c.2574G>A (p.Gln858=)
c.2493G>A (p.Gln831=)
n.2877G>A
Xg.18628376G>CCA412366911CDKL5c.2502G>C (p.Gln834His)
c.2625G>C (p.Gln875His)
c.2574G>C (p.Gln858His)
c.2493G>C (p.Gln831His)
n.2877G>C
Xg.18628376G=CA2417982165CDKL5c.2502G= (p.Gln834=)
c.2625G= (p.Gln875=)
c.2574G= (p.Gln858=)
c.2493G= (p.Gln831=)
n.2877G=
Xg.18628376G>TCA412366913CDKL5c.2502G>T (p.Gln834His)
c.2625G>T (p.Gln875His)
c.2574G>T (p.Gln858His)
c.2493G>T (p.Gln831His)
n.2877G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18628376_18628377delinsGCCA2417982164CDKL5c.2502_2503delinsGC (p.Gln834=)
c.2625_2626delinsGC (p.Gln875=)
c.2574_2575delinsGC (p.Gln858=)
c.2493_2494delinsGC (p.Gln831=)
n.2877_2878delinsGC
Xg.18628377C>ACA412366920CDKL5c.2503C>A (p.Pro835Thr)
c.2626C>A (p.Pro876Thr)
c.2575C>A (p.Pro859Thr)
c.2494C>A (p.Pro832Thr)
n.2878C>A
Xg.18628377C>GCA412366922CDKL5c.2503C>G (p.Pro835Ala)
c.2626C>G (p.Pro876Ala)
c.2575C>G (p.Pro859Ala)
c.2494C>G (p.Pro832Ala)
n.2878C>G
Xg.18628377C>TCA412366918CDKL5c.2503C>T (p.Pro835Ser)
c.2626C>T (p.Pro876Ser)
c.2575C>T (p.Pro859Ser)
c.2494C>T (p.Pro832Ser)
n.2878C>T
Xg.18628378delCA170479CDKL5c.2504del (p.Pro835HisfsTer2)
c.2627del (p.Pro876HisfsTer2)
c.2576del (p.Pro859HisfsTer2)
c.2495del (p.Pro832HisfsTer2)
n.2879del
 ClinVar dbSNP
Xg.18628378C>ACA412366925CDKL5c.2504C>A (p.Pro835Gln)
c.2627C>A (p.Pro876Gln)
c.2576C>A (p.Pro859Gln)
c.2495C>A (p.Pro832Gln)
n.2879C>A
Xg.18628378C>GCA412366927CDKL5c.2504C>G (p.Pro835Arg)
c.2627C>G (p.Pro876Arg)
c.2576C>G (p.Pro859Arg)
c.2495C>G (p.Pro832Arg)
n.2879C>G
Xg.18628378C>TCA412366929CDKL5c.2504C>T (p.Pro835Leu)
c.2627C>T (p.Pro876Leu)
c.2576C>T (p.Pro859Leu)
c.2495C>T (p.Pro832Leu)
n.2879C>T
Xg.18628379A>CCA515470543CDKL5c.2505A>C (p.Pro835=)
c.2628A>C (p.Pro876=)
c.2577A>C (p.Pro859=)
c.2496A>C (p.Pro832=)
n.2880A>C
Xg.18628379A>GCA515470544CDKL5c.2505A>G (p.Pro835=)
c.2628A>G (p.Pro876=)
c.2577A>G (p.Pro859=)
c.2496A>G (p.Pro832=)
n.2880A>G
 ClinVar dbSNP gnomAD v4
Xg.18628379A>TCA515470545CDKL5c.2505A>T (p.Pro835=)
c.2628A>T (p.Pro876=)
c.2577A>T (p.Pro859=)
c.2496A>T (p.Pro832=)
n.2880A>T
Xg.18628380T>ACA412366933CDKL5c.2506T>A (p.Leu836Ile)
c.2629T>A (p.Leu877Ile)
c.2578T>A (p.Leu860Ile)
c.2497T>A (p.Leu833Ile)
n.2881T>A
Xg.18628380T>CCA515470546CDKL5c.2506T>C (p.Leu836=)
c.2629T>C (p.Leu877=)
c.2578T>C (p.Leu860=)
c.2497T>C (p.Leu833=)
n.2881T>C
Xg.18628380T>GCA412366935CDKL5c.2506T>G (p.Leu836Val)
c.2629T>G (p.Leu877Val)
c.2578T>G (p.Leu860Val)
c.2497T>G (p.Leu833Val)
n.2881T>G
Xg.18628381T>ACA412366942CDKL5c.2507T>A (p.Leu836Ter)
c.2630T>A (p.Leu877Ter)
c.2579T>A (p.Leu860Ter)
c.2498T>A (p.Leu833Ter)
n.2882T>A
Xg.18628381T>CCA412366941CDKL5c.2507T>C (p.Leu836Ser)
c.2630T>C (p.Leu877Ser)
c.2579T>C (p.Leu860Ser)
c.2498T>C (p.Leu833Ser)
n.2882T>C
Xg.18628381T>GCA412366938CDKL5c.2507T>G (p.Leu836Ter)
c.2630T>G (p.Leu877Ter)
c.2579T>G (p.Leu860Ter)
c.2498T>G (p.Leu833Ter)
n.2882T>G
Xg.18628382A>CCA412366944CDKL5c.2508A>C (p.Leu836Phe)
c.2631A>C (p.Leu877Phe)
c.2580A>C (p.Leu860Phe)
c.2499A>C (p.Leu833Phe)
n.2883A>C
Xg.18628382A>GCA515470547CDKL5c.2508A>G (p.Leu836=)
c.2631A>G (p.Leu877=)
c.2580A>G (p.Leu860=)
c.2499A>G (p.Leu833=)
n.2883A>G
 gnomAD v4
Xg.18628382A>TCA412366946CDKL5c.2508A>T (p.Leu836Phe)
c.2631A>T (p.Leu877Phe)
c.2580A>T (p.Leu860Phe)
c.2499A>T (p.Leu833Phe)
n.2883A>T
Xg.18628383A>CCA412366949CDKL5c.2509A>C (p.Lys837Gln)
c.2632A>C (p.Lys878Gln)
c.2581A>C (p.Lys861Gln)
c.2500A>C (p.Lys834Gln)
n.2884A>C
Xg.18628383A>GCA412366951CDKL5c.2509A>G (p.Lys837Glu)
c.2632A>G (p.Lys878Glu)
c.2581A>G (p.Lys861Glu)
c.2500A>G (p.Lys834Glu)
n.2884A>G
Xg.18628383A>TCA412366954CDKL5c.2509A>T (p.Lys837Ter)
c.2632A>T (p.Lys878Ter)
c.2581A>T (p.Lys861Ter)
c.2500A>T (p.Lys834Ter)
n.2884A>T
Xg.18628384A>CCA412366956CDKL5c.2510A>C (p.Lys837Thr)
c.2633A>C (p.Lys878Thr)
c.2582A>C (p.Lys861Thr)
c.2501A>C (p.Lys834Thr)
n.2885A>C
Xg.18628384A>GCA412366958CDKL5c.2510A>G (p.Lys837Arg)
c.2633A>G (p.Lys878Arg)
c.2582A>G (p.Lys861Arg)
c.2501A>G (p.Lys834Arg)
n.2885A>G
Xg.18628384A>TCA412366961CDKL5c.2510A>T (p.Lys837Ile)
c.2633A>T (p.Lys878Ile)
c.2582A>T (p.Lys861Ile)
c.2501A>T (p.Lys834Ile)
n.2885A>T
Xg.18628385A>CCA412366965CDKL5c.2511A>C (p.Lys837Asn)
c.2634A>C (p.Lys878Asn)
c.2583A>C (p.Lys861Asn)
c.2502A>C (p.Lys834Asn)
n.2886A>C
Xg.18628385A>GCA515470548CDKL5c.2511A>G (p.Lys837=)
c.2634A>G (p.Lys878=)
c.2583A>G (p.Lys861=)
c.2502A>G (p.Lys834=)
n.2886A>G
Xg.18628385A>TCA412366964CDKL5c.2511A>T (p.Lys837Asn)
c.2634A>T (p.Lys878Asn)
c.2583A>T (p.Lys861Asn)
c.2502A>T (p.Lys834Asn)
n.2886A>T
Xg.18628386T>ACA412366969CDKL5c.2512T>A (p.Ser838Thr)
c.2635T>A (p.Ser879Thr)
c.2584T>A (p.Ser862Thr)
c.2503T>A (p.Ser835Thr)
n.2887T>A
Xg.18628386T>CCA412366972CDKL5c.2512T>C (p.Ser838Pro)
c.2635T>C (p.Ser879Pro)
c.2584T>C (p.Ser862Pro)
c.2503T>C (p.Ser835Pro)
n.2887T>C
Xg.18628386T>GCA412366971CDKL5c.2512T>G (p.Ser838Ala)
c.2635T>G (p.Ser879Ala)
c.2584T>G (p.Ser862Ala)
c.2503T>G (p.Ser835Ala)
n.2887T>G
 gnomAD v4
Xg.18628387C>ACA412366975CDKL5c.2513C>A (p.Ser838Ter)
c.2636C>A (p.Ser879Ter)
c.2585C>A (p.Ser862Ter)
c.2504C>A (p.Ser835Ter)
n.2888C>A
Xg.18628387C>GCA412366979CDKL5c.2513C>G (p.Ser838Ter)
c.2636C>G (p.Ser879Ter)
c.2585C>G (p.Ser862Ter)
c.2504C>G (p.Ser835Ter)
n.2888C>G
Xg.18628387C>TCA412366977CDKL5c.2513C>T (p.Ser838Leu)
c.2636C>T (p.Ser879Leu)
c.2585C>T (p.Ser862Leu)
c.2504C>T (p.Ser835Leu)
n.2888C>T
Xg.18628388A>CCA515470549CDKL5c.2514A>C (p.Ser838=)
c.2637A>C (p.Ser879=)
c.2586A>C (p.Ser862=)
c.2505A>C (p.Ser835=)
n.2889A>C
Xg.18628388A>GCA515470550CDKL5c.2514A>G (p.Ser838=)
c.2637A>G (p.Ser879=)
c.2586A>G (p.Ser862=)
c.2505A>G (p.Ser835=)
n.2889A>G
Xg.18628388A>TCA515470551CDKL5c.2514A>T (p.Ser838=)
c.2637A>T (p.Ser879=)
c.2586A>T (p.Ser862=)
c.2505A>T (p.Ser835=)
n.2889A>T
Xg.18628389C>ACA412366981CDKL5c.2515C>A (p.Leu839Met)
c.2638C>A (p.Leu880Met)
c.2587C>A (p.Leu863Met)
c.2506C>A (p.Leu836Met)
n.2890C>A
Xg.18628389C>GCA412366983CDKL5c.2515C>G (p.Leu839Val)
c.2638C>G (p.Leu880Val)
c.2587C>G (p.Leu863Val)
c.2506C>G (p.Leu836Val)
n.2890C>G
Xg.18628389C>TCA515470552CDKL5c.2515C>T (p.Leu839=)
c.2638C>T (p.Leu880=)
c.2587C>T (p.Leu863=)
c.2506C>T (p.Leu836=)
n.2890C>T
Xg.18628390T>ACA412366986CDKL5c.2516T>A (p.Leu839Gln)
c.2639T>A (p.Leu880Gln)
c.2588T>A (p.Leu863Gln)
c.2507T>A (p.Leu836Gln)
n.2891T>A
Xg.18628390T>CCA412366988CDKL5c.2516T>C (p.Leu839Pro)
c.2639T>C (p.Leu880Pro)
c.2588T>C (p.Leu863Pro)
c.2507T>C (p.Leu836Pro)
n.2891T>C
Xg.18628390T>GCA412366990CDKL5c.2516T>G (p.Leu839Arg)
c.2639T>G (p.Leu880Arg)
c.2588T>G (p.Leu863Arg)
c.2507T>G (p.Leu836Arg)
n.2891T>G
Xg.18628391G>ACA515470554CDKL5c.2517G>A (p.Leu839=)
c.2640G>A (p.Leu880=)
c.2589G>A (p.Leu863=)
c.2508G>A (p.Leu836=)
n.2892G>A
Xg.18628391G>CCA515470555CDKL5c.2517G>C (p.Leu839=)
c.2640G>C (p.Leu880=)
c.2589G>C (p.Leu863=)
c.2508G>C (p.Leu836=)
n.2892G>C
Xg.18628391G>TCA515470553CDKL5c.2517G>T (p.Leu839=)
c.2640G>T (p.Leu880=)
c.2589G>T (p.Leu863=)
c.2508G>T (p.Leu836=)
n.2892G>T
Xg.18628392C>ACA412366992CDKL5c.2518C>A (p.Arg840Ser)
c.2641C>A (p.Arg881Ser)
c.2590C>A (p.Arg864Ser)
c.2509C>A (p.Arg837Ser)
n.2893C>A
Xg.18628392C>GCA412366994CDKL5c.2518C>G (p.Arg840Gly)
c.2641C>G (p.Arg881Gly)
c.2590C>G (p.Arg864Gly)
c.2509C>G (p.Arg837Gly)
n.2893C>G
 gnomAD v4
Xg.18628392C>TCA412366997CDKL5c.2518C>T (p.Arg840Cys)
c.2641C>T (p.Arg881Cys)
c.2590C>T (p.Arg864Cys)
c.2509C>T (p.Arg837Cys)
n.2893C>T
 ClinVar gnomAD v4 COSMIC
Xg.18628393G>ACA412367000CDKL5c.2519G>A (p.Arg840His)
c.2642G>A (p.Arg881His)
c.2591G>A (p.Arg864His)
c.2510G>A (p.Arg837His)
n.2894G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.18628393G>CCA412367002CDKL5c.2519G>C (p.Arg840Pro)
c.2642G>C (p.Arg881Pro)
c.2591G>C (p.Arg864Pro)
c.2510G>C (p.Arg837Pro)
n.2894G>C
Xg.18628393G=CA2417982166CDKL5c.2519G= (p.Arg840=)
c.2642G= (p.Arg881=)
c.2591G= (p.Arg864=)
c.2510G= (p.Arg837=)
n.2894G=
Xg.18628393G>TCA412367004CDKL5c.2519G>T (p.Arg840Leu)
c.2642G>T (p.Arg881Leu)
c.2591G>T (p.Arg864Leu)
c.2510G>T (p.Arg837Leu)
n.2894G>T
Xg.18628394C>ACA515470556CDKL5c.2520C>A (p.Arg840=)
c.2643C>A (p.Arg881=)
c.2592C>A (p.Arg864=)
c.2511C>A (p.Arg837=)
n.2895C>A
Xg.18628394C=CA2417982167CDKL5c.2520C= (p.Arg840=)
c.2643C= (p.Arg881=)
c.2592C= (p.Arg864=)
c.2511C= (p.Arg837=)
n.2895C=
Xg.18628394C>GCA515470557CDKL5c.2520C>G (p.Arg840=)
c.2643C>G (p.Arg881=)
c.2592C>G (p.Arg864=)
c.2511C>G (p.Arg837=)
n.2895C>G
Xg.18628394C>TCA16043241CDKL5c.2520C>T (p.Arg840=)
c.2643C>T (p.Arg881=)
c.2592C>T (p.Arg864=)
c.2511C>T (p.Arg837=)
n.2895C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18628395A>CCA412367009CDKL5c.2521A>C (p.Lys841Gln)
c.2644A>C (p.Lys882Gln)
c.2593A>C (p.Lys865Gln)
c.2512A>C (p.Lys838Gln)
n.2896A>C
Xg.18628395A>GCA412367012CDKL5c.2521A>G (p.Lys841Glu)
c.2644A>G (p.Lys882Glu)
c.2593A>G (p.Lys865Glu)
c.2512A>G (p.Lys838Glu)
n.2896A>G
 COSMIC
Xg.18628395A>TCA412367010CDKL5c.2521A>T (p.Lys841Ter)
c.2644A>T (p.Lys882Ter)
c.2593A>T (p.Lys865Ter)
c.2512A>T (p.Lys838Ter)
n.2896A>T
Xg.18628396dupCA10603424CDKL5c.2522dup (p.Leu842ValfsTer?)
c.2645dup (p.Leu883ValfsTer?)
c.2594dup (p.Leu866ValfsTer?)
c.2513dup (p.Leu839ValfsTer?)
n.2897dup
 ClinVar dbSNP
Xg.18628396A>CCA412367015CDKL5c.2522A>C (p.Lys841Thr)
c.2645A>C (p.Lys882Thr)
c.2594A>C (p.Lys865Thr)
c.2513A>C (p.Lys838Thr)
n.2897A>C
Xg.18628396A>GCA412367017CDKL5c.2522A>G (p.Lys841Arg)
c.2645A>G (p.Lys882Arg)
c.2594A>G (p.Lys865Arg)
c.2513A>G (p.Lys838Arg)
n.2897A>G
Xg.18628396A>TCA412367019CDKL5c.2522A>T (p.Lys841Met)
c.2645A>T (p.Lys882Met)
c.2594A>T (p.Lys865Met)
c.2513A>T (p.Lys838Met)
n.2897A>T
Xg.18628397G>ACA515470562CDKL5c.2523G>A (p.Lys841=)
c.2646G>A (p.Lys882=)
c.2595G>A (p.Lys865=)
c.2514G>A (p.Lys838=)
n.2898G>A
Xg.18628397G>CCA412367022CDKL5c.2523G>C (p.Lys841Asn)
c.2646G>C (p.Lys882Asn)
c.2595G>C (p.Lys865Asn)
c.2514G>C (p.Lys838Asn)
n.2898G>C
Xg.18628397G>TCA412367024CDKL5c.2523G>T (p.Lys841Asn)
c.2646G>T (p.Lys882Asn)
c.2595G>T (p.Lys865Asn)
c.2514G>T (p.Lys838Asn)
n.2898G>T
Xg.18628398T>ACA412367027CDKL5c.2524T>A (p.Leu842Met)
c.2647T>A (p.Leu883Met)
c.2596T>A (p.Leu866Met)
c.2515T>A (p.Leu839Met)
n.2899T>A
Xg.18628398T>CCA515470563CDKL5c.2524T>C (p.Leu842=)
c.2647T>C (p.Leu883=)
c.2596T>C (p.Leu866=)
c.2515T>C (p.Leu839=)
n.2899T>C
Xg.18628398T>GCA412367029CDKL5c.2524T>G (p.Leu842Val)
c.2647T>G (p.Leu883Val)
c.2596T>G (p.Leu866Val)
c.2515T>G (p.Leu839Val)
n.2899T>G
Xg.18628399T>ACA412367032CDKL5c.2525T>A (p.Leu842Ter)
c.2648T>A (p.Leu883Ter)
c.2597T>A (p.Leu866Ter)
c.2516T>A (p.Leu839Ter)
n.2900T>A
Xg.18628399T>CCA412367034CDKL5c.2525T>C (p.Leu842Ser)
c.2648T>C (p.Leu883Ser)
c.2597T>C (p.Leu866Ser)
c.2516T>C (p.Leu839Ser)
n.2900T>C
Xg.18628399T>GCA412367036CDKL5c.2525T>G (p.Leu842Trp)
c.2648T>G (p.Leu883Trp)
c.2597T>G (p.Leu866Trp)
c.2516T>G (p.Leu839Trp)
n.2900T>G
Xg.18628400G>ACA515470566CDKL5c.2526G>A (p.Leu842=)
c.2649G>A (p.Leu883=)
c.2598G>A (p.Leu866=)
c.2517G>A (p.Leu839=)
n.2901G>A
Xg.18628400G>CCA412367041CDKL5c.2526G>C (p.Leu842Phe)
c.2649G>C (p.Leu883Phe)
c.2598G>C (p.Leu866Phe)
c.2517G>C (p.Leu839Phe)
n.2901G>C
Xg.18628400G>TCA412367039CDKL5c.2526G>T (p.Leu842Phe)
c.2649G>T (p.Leu883Phe)
c.2598G>T (p.Leu866Phe)
c.2517G>T (p.Leu839Phe)
n.2901G>T
Xg.18628401T>ACA412367044CDKL5c.2527T>A (p.Leu843Ile)
c.2650T>A (p.Leu884Ile)
c.2599T>A (p.Leu867Ile)
c.2518T>A (p.Leu840Ile)
n.2902T>A
Xg.18628401T>CCA515470567CDKL5c.2527T>C (p.Leu843=)
c.2650T>C (p.Leu884=)
c.2599T>C (p.Leu867=)
c.2518T>C (p.Leu840=)
n.2902T>C
 dbSNP
Xg.18628401T>GCA412367046CDKL5c.2527T>G (p.Leu843Val)
c.2650T>G (p.Leu884Val)
c.2599T>G (p.Leu867Val)
c.2518T>G (p.Leu840Val)
n.2902T>G
Xg.18628401T=CA2417982168CDKL5c.2527T= (p.Leu843=)
c.2650T= (p.Leu884=)
c.2599T= (p.Leu867=)
c.2518T= (p.Leu840=)
n.2902T=
Xg.18628402T>ACA412367048CDKL5c.2528T>A (p.Leu843Ter)
c.2651T>A (p.Leu884Ter)
c.2600T>A (p.Leu867Ter)
c.2519T>A (p.Leu840Ter)
n.2903T>A
Xg.18628402T>CCA412367050CDKL5c.2528T>C (p.Leu843Ser)
c.2651T>C (p.Leu884Ser)
c.2600T>C (p.Leu867Ser)
c.2519T>C (p.Leu840Ser)
n.2903T>C
Xg.18628402T>GCA412367053CDKL5c.2528T>G (p.Leu843Ter)
c.2651T>G (p.Leu884Ter)
c.2600T>G (p.Leu867Ter)
c.2519T>G (p.Leu840Ter)
n.2903T>G
Xg.18628402_18628403delinsTACA2417982169CDKL5c.2528_2529delinsTA (p.Leu843=)
c.2651_2652delinsTA (p.Leu884=)
c.2600_2601delinsTA (p.Leu867=)
c.2519_2520delinsTA (p.Leu840=)
n.2903_2904delinsTA
Xg.18628403delCA170480CDKL5c.2529del (p.Leu843PhefsTer20)
c.2652del (p.Leu884PhefsTer20)
c.2601del (p.Leu867PhefsTer20)
c.2520del (p.Leu840PhefsTer20)
n.2904del
 ClinVar dbSNP
Xg.18628403A=CA2417982170CDKL5c.2529A= (p.Leu843=)
c.2652A= (p.Leu884=)
c.2601A= (p.Leu867=)
c.2520A= (p.Leu840=)
n.2904A=
Xg.18628403A>CCA412367056CDKL5c.2529A>C (p.Leu843Phe)
c.2652A>C (p.Leu884Phe)
c.2601A>C (p.Leu867Phe)
c.2520A>C (p.Leu840Phe)
n.2904A>C
Xg.18628403A>GCA515470568CDKL5c.2529A>G (p.Leu843=)
c.2652A>G (p.Leu884=)
c.2601A>G (p.Leu867=)
c.2520A>G (p.Leu840=)
n.2904A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18628403A>TCA412367057CDKL5c.2529A>T (p.Leu843Phe)
c.2652A>T (p.Leu884Phe)
c.2601A>T (p.Leu867Phe)
c.2520A>T (p.Leu840Phe)
n.2904A>T
Xg.18628403dupCA2740092046CDKL5c.2529dup (p.His844ThrfsTer?)
c.2652dup (p.His885ThrfsTer?)
c.2601dup (p.His868ThrfsTer?)
c.2520dup (p.His841ThrfsTer?)
n.2904dup
 ClinVar
Xg.18628404C>ACA412367060CDKL5c.2530C>A (p.His844Asn)
c.2653C>A (p.His885Asn)
c.2602C>A (p.His868Asn)
c.2521C>A (p.His841Asn)
n.2905C>A
 ClinVar
Xg.18628404C=CA2417982171CDKL5c.2530C= (p.His844=)
c.2653C= (p.His885=)
c.2602C= (p.His868=)
c.2521C= (p.His841=)
n.2905C=
Xg.18628404C>GCA412367062CDKL5c.2530C>G (p.His844Asp)
c.2653C>G (p.His885Asp)
c.2602C>G (p.His868Asp)
c.2521C>G (p.His841Asp)
n.2905C>G
Xg.18628404C>TCA412367065CDKL5c.2530C>T (p.His844Tyr)
c.2653C>T (p.His885Tyr)
c.2602C>T (p.His868Tyr)
c.2521C>T (p.His841Tyr)
n.2905C>T
 dbSNP
Xg.18628405A>CCA412367067CDKL5c.2531A>C (p.His844Pro)
c.2654A>C (p.His885Pro)
c.2603A>C (p.His868Pro)
c.2522A>C (p.His841Pro)
n.2906A>C
Xg.18628405A>GCA412367069CDKL5c.2531A>G (p.His844Arg)
c.2654A>G (p.His885Arg)
c.2603A>G (p.His868Arg)
c.2522A>G (p.His841Arg)
n.2906A>G
Xg.18628405A>TCA412367071CDKL5c.2531A>T (p.His844Leu)
c.2654A>T (p.His885Leu)
c.2603A>T (p.His868Leu)
c.2522A>T (p.His841Leu)
n.2906A>T
Xg.18628405dupCA235610CDKL5c.2531dup (p.His844GlnfsTer?)
c.2654dup (p.His885GlnfsTer?)
c.2603dup (p.His868GlnfsTer?)
c.2522dup (p.His841GlnfsTer?)
n.2906dup
 ClinVar dbSNP
Xg.18628406T>ACA412367074CDKL5c.2532T>A (p.His844Gln)
c.2655T>A (p.His885Gln)
c.2604T>A (p.His868Gln)
c.2523T>A (p.His841Gln)
n.2907T>A
Xg.18628406T>CCA515470569CDKL5c.2532T>C (p.His844=)
c.2655T>C (p.His885=)
c.2604T>C (p.His868=)
c.2523T>C (p.His841=)
n.2907T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.18628406T>GCA412367076CDKL5c.2532T>G (p.His844Gln)
c.2655T>G (p.His885Gln)
c.2604T>G (p.His868Gln)
c.2523T>G (p.His841Gln)
n.2907T>G
Xg.18628406T=CA2417982172CDKL5c.2532T= (p.His844=)
c.2655T= (p.His885=)
c.2604T= (p.His868=)
c.2523T= (p.His841=)
n.2907T=
Xg.18628407C>ACA412367079CDKL5c.2533C>A (p.Leu845Ile)
c.2656C>A (p.Leu886Ile)
c.2605C>A (p.Leu869Ile)
c.2524C>A (p.Leu842Ile)
n.2908C>A
Xg.18628407C>GCA412367081CDKL5c.2533C>G (p.Leu845Val)
c.2656C>G (p.Leu886Val)
c.2605C>G (p.Leu869Val)
c.2524C>G (p.Leu842Val)
n.2908C>G
Xg.18628407C>TCA412367084CDKL5c.2533C>T (p.Leu845Phe)
c.2656C>T (p.Leu886Phe)
c.2605C>T (p.Leu869Phe)
c.2524C>T (p.Leu842Phe)
n.2908C>T
Xg.18628408T>ACA412367087CDKL5c.2534T>A (p.Leu845His)
c.2657T>A (p.Leu886His)
c.2606T>A (p.Leu869His)
c.2525T>A (p.Leu842His)
n.2909T>A
Xg.18628408T>CCA412367089CDKL5c.2534T>C (p.Leu845Pro)
c.2657T>C (p.Leu886Pro)
c.2606T>C (p.Leu869Pro)
c.2525T>C (p.Leu842Pro)
n.2909T>C
Xg.18628408T>GCA412367092CDKL5c.2534T>G (p.Leu845Arg)
c.2657T>G (p.Leu886Arg)
c.2606T>G (p.Leu869Arg)
c.2525T>G (p.Leu842Arg)
n.2909T>G
Xg.18628409C>ACA515470570CDKL5c.2535C>A (p.Leu845=)
c.2658C>A (p.Leu886=)
c.2607C>A (p.Leu869=)
c.2526C>A (p.Leu842=)
n.2910C>A
Xg.18628409C>GCA515470571CDKL5c.2535C>G (p.Leu845=)
c.2658C>G (p.Leu886=)
c.2607C>G (p.Leu869=)
c.2526C>G (p.Leu842=)
n.2910C>G
 gnomAD v4
Xg.18628409C>TCA515470572CDKL5c.2535C>T (p.Leu845=)
c.2658C>T (p.Leu886=)
c.2607C>T (p.Leu869=)
c.2526C>T (p.Leu842=)
n.2910C>T
Xg.18628410T>ACA412367095CDKL5c.2536T>A (p.Ser846Thr)
c.2659T>A (p.Ser887Thr)
c.2608T>A (p.Ser870Thr)
c.2527T>A (p.Ser843Thr)
n.2911T>A
Xg.18628410T>CCA412367097CDKL5c.2536T>C (p.Ser846Pro)
c.2659T>C (p.Ser887Pro)
c.2608T>C (p.Ser870Pro)
c.2527T>C (p.Ser843Pro)
n.2911T>C
Xg.18628410T>GCA412367100CDKL5c.2536T>G (p.Ser846Ala)
c.2659T>G (p.Ser887Ala)
c.2608T>G (p.Ser870Ala)
c.2527T>G (p.Ser843Ala)
n.2911T>G
Xg.18628411C>ACA412367102CDKL5c.2537C>A (p.Ser846Tyr)
c.2660C>A (p.Ser887Tyr)
c.2609C>A (p.Ser870Tyr)
c.2528C>A (p.Ser843Tyr)
n.2912C>A
Xg.18628411C>GCA412367105CDKL5c.2537C>G (p.Ser846Cys)
c.2660C>G (p.Ser887Cys)
c.2609C>G (p.Ser870Cys)
c.2528C>G (p.Ser843Cys)
n.2912C>G
Xg.18628411C>TCA412367107CDKL5c.2537C>T (p.Ser846Phe)
c.2660C>T (p.Ser887Phe)
c.2609C>T (p.Ser870Phe)
c.2528C>T (p.Ser843Phe)
n.2912C>T
Xg.18628412T>ACA515470573CDKL5c.2538T>A (p.Ser846=)
c.2661T>A (p.Ser887=)
c.2610T>A (p.Ser870=)
c.2529T>A (p.Ser843=)
n.2913T>A
Xg.18628412T>CCA515470574CDKL5c.2538T>C (p.Ser846=)
c.2661T>C (p.Ser887=)
c.2610T>C (p.Ser870=)
c.2529T>C (p.Ser843=)
n.2913T>C
 gnomAD v4
Xg.18628412T>GCA515470575CDKL5c.2538T>G (p.Ser846=)
c.2661T>G (p.Ser887=)
c.2610T>G (p.Ser870=)
c.2529T>G (p.Ser843=)
n.2913T>G
Xg.18628413T>ACA412367113CDKL5c.2539T>A (p.Ser847Thr)
c.2662T>A (p.Ser888Thr)
c.2611T>A (p.Ser871Thr)
c.2530T>A (p.Ser844Thr)
n.2914T>A
Xg.18628413T>CCA412367111CDKL5c.2539T>C (p.Ser847Pro)
c.2662T>C (p.Ser888Pro)
c.2611T>C (p.Ser871Pro)
c.2530T>C (p.Ser844Pro)
n.2914T>C
Xg.18628413T>GCA412367110CDKL5c.2539T>G (p.Ser847Ala)
c.2662T>G (p.Ser888Ala)
c.2611T>G (p.Ser871Ala)
c.2530T>G (p.Ser844Ala)
n.2914T>G
Xg.18628414C>ACA412367118CDKL5c.2540C>A (p.Ser847Ter)
c.2663C>A (p.Ser888Ter)
c.2612C>A (p.Ser871Ter)
c.2531C>A (p.Ser844Ter)
n.2915C>A
Xg.18628414C=CA2417982173CDKL5c.2540C= (p.Ser847=)
c.2663C= (p.Ser888=)
c.2612C= (p.Ser871=)
c.2531C= (p.Ser844=)
n.2915C=
Xg.18628414C>GCA412367116CDKL5c.2540C>G (p.Ser847Trp)
c.2663C>G (p.Ser888Trp)
c.2612C>G (p.Ser871Trp)
c.2531C>G (p.Ser844Trp)
n.2915C>G
Xg.18628414C>TCA10360560CDKL5c.2540C>T (p.Ser847Leu)
c.2663C>T (p.Ser888Leu)
c.2612C>T (p.Ser871Leu)
c.2531C>T (p.Ser844Leu)
n.2915C>T
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
Xg.18628415G>ACA10360561CDKL5c.2541G>A (p.Ser847=)
c.2664G>A (p.Ser888=)
c.2613G>A (p.Ser871=)
c.2532G>A (p.Ser844=)
n.2916G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18628415G>CCA515470576CDKL5c.2541G>C (p.Ser847=)
c.2664G>C (p.Ser888=)
c.2613G>C (p.Ser871=)
c.2532G>C (p.Ser844=)
n.2916G>C
 gnomAD v4
Xg.18628415G=CA2417982174CDKL5c.2541G= (p.Ser847=)
c.2664G= (p.Ser888=)
c.2613G= (p.Ser871=)
c.2532G= (p.Ser844=)
n.2916G=
Xg.18628415G>TCA515470577CDKL5c.2541G>T (p.Ser847=)
c.2664G>T (p.Ser888=)
c.2613G>T (p.Ser871=)
c.2532G>T (p.Ser844=)
n.2916G>T
Xg.18628416G>ACA412367124CDKL5c.2542G>A (p.Ala848Thr)
c.2665G>A (p.Ala889Thr)
c.2614G>A (p.Ala872Thr)
c.2533G>A (p.Ala845Thr)
n.2917G>A
Xg.18628416G>CCA412367126CDKL5c.2542G>C (p.Ala848Pro)
c.2665G>C (p.Ala889Pro)
c.2614G>C (p.Ala872Pro)
c.2533G>C (p.Ala845Pro)
n.2917G>C
Xg.18628416G>TCA412367128CDKL5c.2542G>T (p.Ala848Ser)
c.2665G>T (p.Ala889Ser)
c.2614G>T (p.Ala872Ser)
c.2533G>T (p.Ala845Ser)
n.2917G>T
 gnomAD v4
Xg.18628417C>ACA412367132CDKL5c.2543C>A (p.Ala848Asp)
c.2666C>A (p.Ala889Asp)
c.2615C>A (p.Ala872Asp)
c.2534C>A (p.Ala845Asp)
n.2918C>A
Xg.18628417C>GCA412367133CDKL5c.2543C>G (p.Ala848Gly)
c.2666C>G (p.Ala889Gly)
c.2615C>G (p.Ala872Gly)
c.2534C>G (p.Ala845Gly)
n.2918C>G
Xg.18628417C>TCA412367135CDKL5c.2543C>T (p.Ala848Val)
c.2666C>T (p.Ala889Val)
c.2615C>T (p.Ala872Val)
c.2534C>T (p.Ala845Val)
n.2918C>T

Number of alleles fetched