Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18619802A>GCA2579563024CDKL5c.2277-65A>G (n.2277-65A>G)
c.2226-65A>G (n.2226-65A>G)
c.2145-65A>G (n.2145-65A>G)
n.2529-65A>G
Xg.18619803T>GCA327007673CDKL5c.2277-64T>G (n.2277-64T>G)
c.2226-64T>G (n.2226-64T>G)
c.2145-64T>G (n.2145-64T>G)
n.2529-64T>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18619803T=CA2417979385CDKL5c.2277-64T= (n.2277-64T=)
c.2226-64T= (n.2226-64T=)
c.2145-64T= (n.2145-64T=)
n.2529-64T=
Xg.18619804T>CCA2417979387CDKL5c.2277-63T>C (n.2277-63T>C)
c.2226-63T>C (n.2226-63T>C)
c.2145-63T>C (n.2145-63T>C)
n.2529-63T>C
 dbSNP
Xg.18619804T=CA2417979386CDKL5c.2277-63T= (n.2277-63T=)
c.2226-63T= (n.2226-63T=)
c.2145-63T= (n.2145-63T=)
n.2529-63T=
Xg.18619806G>ACA873674069CDKL5c.2277-61G>A (n.2277-61G>A)
c.2226-61G>A (n.2226-61G>A)
c.2145-61G>A (n.2145-61G>A)
n.2529-61G>A
 dbSNP
Xg.18619806G=CA2417979388CDKL5c.2277-61G= (n.2277-61G=)
c.2226-61G= (n.2226-61G=)
c.2145-61G= (n.2145-61G=)
n.2529-61G=
Xg.18619806G>TCA2693223275CDKL5c.2277-61G>T (n.2277-61G>T)
c.2226-61G>T (n.2226-61G>T)
c.2145-61G>T (n.2145-61G>T)
n.2529-61G>T
 gnomAD v4
Xg.18619808C>ACA2693223276CDKL5c.2277-59C>A (n.2277-59C>A)
c.2226-59C>A (n.2226-59C>A)
c.2145-59C>A (n.2145-59C>A)
n.2529-59C>A
 gnomAD v4
Xg.18619808C=CA2417979389CDKL5c.2277-59C= (n.2277-59C=)
c.2226-59C= (n.2226-59C=)
c.2145-59C= (n.2145-59C=)
n.2529-59C=
Xg.18619808C>TCA873674071CDKL5c.2277-59C>T (n.2277-59C>T)
c.2226-59C>T (n.2226-59C>T)
c.2145-59C>T (n.2145-59C>T)
n.2529-59C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18619809A>GCA2579563025CDKL5c.2277-58A>G (n.2277-58A>G)
c.2226-58A>G (n.2226-58A>G)
c.2145-58A>G (n.2145-58A>G)
n.2529-58A>G
 gnomAD v4
Xg.18619810C>ACA2579563026CDKL5c.2277-57C>A (n.2277-57C>A)
c.2226-57C>A (n.2226-57C>A)
c.2145-57C>A (n.2145-57C>A)
n.2529-57C>A
 gnomAD v4
Xg.18619810C=CA2417979390CDKL5c.2277-57C= (n.2277-57C=)
c.2226-57C= (n.2226-57C=)
c.2145-57C= (n.2145-57C=)
n.2529-57C=
Xg.18619810C>TCA873674073CDKL5c.2277-57C>T (n.2277-57C>T)
c.2226-57C>T (n.2226-57C>T)
c.2145-57C>T (n.2145-57C>T)
n.2529-57C>T
 dbSNP
Xg.18619812C>ACA2693223277CDKL5c.2277-55C>A (n.2277-55C>A)
c.2226-55C>A (n.2226-55C>A)
c.2145-55C>A (n.2145-55C>A)
n.2529-55C>A
 gnomAD v4
Xg.18619812C>TCA2693223278CDKL5c.2277-55C>T (n.2277-55C>T)
c.2226-55C>T (n.2226-55C>T)
c.2145-55C>T (n.2145-55C>T)
n.2529-55C>T
 gnomAD v4
Xg.18619813A=CA2417979391CDKL5c.2277-54A= (n.2277-54A=)
c.2226-54A= (n.2226-54A=)
c.2145-54A= (n.2145-54A=)
n.2529-54A=
Xg.18619813A>GCA1131399640CDKL5c.2277-54A>G (n.2277-54A>G)
c.2226-54A>G (n.2226-54A>G)
c.2145-54A>G (n.2145-54A>G)
n.2529-54A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18619814delCA2693223279CDKL5c.2277-53del (n.2277-53del)
c.2226-53del (n.2226-53del)
c.2145-53del (n.2145-53del)
n.2529-53del
 gnomAD v4
Xg.18619814A>GCA2693223280CDKL5c.2277-53A>G (n.2277-53A>G)
c.2226-53A>G (n.2226-53A>G)
c.2145-53A>G (n.2145-53A>G)
n.2529-53A>G
 gnomAD v4
Xg.18619816G>CCA2693223281CDKL5c.2277-51G>C (n.2277-51G>C)
c.2226-51G>C (n.2226-51G>C)
c.2145-51G>C (n.2145-51G>C)
n.2529-51G>C
 gnomAD v4
Xg.18619817G>TCA2693223282CDKL5c.2277-50G>T (n.2277-50G>T)
c.2226-50G>T (n.2226-50G>T)
c.2145-50G>T (n.2145-50G>T)
n.2529-50G>T
 gnomAD v4
Xg.18619818delCA2819902179CDKL5c.2277-49del (n.2277-49del)
c.2226-49del (n.2226-49del)
c.2145-49del (n.2145-49del)
n.2529-49del
Xg.18619818C>ACA2693223283CDKL5c.2277-49C>A (n.2277-49C>A)
c.2226-49C>A (n.2226-49C>A)
c.2145-49C>A (n.2145-49C>A)
n.2529-49C>A
 gnomAD v4
Xg.18619819A=CA2417979392CDKL5c.2277-48A= (n.2277-48A=)
c.2226-48A= (n.2226-48A=)
c.2145-48A= (n.2145-48A=)
n.2529-48A=
Xg.18619819A>CCA10360523CDKL5c.2277-48A>C (n.2277-48A>C)
c.2226-48A>C (n.2226-48A>C)
c.2145-48A>C (n.2145-48A>C)
n.2529-48A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18619821G=CA2417979393CDKL5c.2277-46G= (n.2277-46G=)
c.2226-46G= (n.2226-46G=)
c.2145-46G= (n.2145-46G=)
n.2529-46G=
Xg.18619821G>TCA1131399643CDKL5c.2277-46G>T (n.2277-46G>T)
c.2226-46G>T (n.2226-46G>T)
c.2145-46G>T (n.2145-46G>T)
n.2529-46G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18619822A>CCA2579563027CDKL5c.2277-45A>C (n.2277-45A>C)
c.2226-45A>C (n.2226-45A>C)
c.2145-45A>C (n.2145-45A>C)
n.2529-45A>C
Xg.18619825delCA2693223284CDKL5c.2277-42del (n.2277-42del)
c.2226-42del (n.2226-42del)
c.2145-42del (n.2145-42del)
n.2529-42del
 gnomAD v4
Xg.18619825_18619829delinsATGATCA2417979394CDKL5c.2277-42_2277-38delinsATGAT (n.2277-42_2277-38delinsATGAT)
c.2226-42_2226-38delinsATGAT (n.2226-42_2226-38delinsATGAT)
c.2145-42_2145-38delinsATGAT (n.2145-42_2145-38delinsATGAT)
n.2529-42_2529-38delinsATGAT
Xg.18619829_18619832delCA10360524CDKL5c.2277-38_2277-35del (n.2277-38_2277-35del)
c.2226-38_2226-35del (n.2226-38_2226-35del)
c.2145-38_2145-35del (n.2145-38_2145-35del)
n.2529-38_2529-35del
 dbSNP ExAC
Xg.18619827G=CA2417979395CDKL5c.2277-40G= (n.2277-40G=)
c.2226-40G= (n.2226-40G=)
c.2145-40G= (n.2145-40G=)
n.2529-40G=
Xg.18619827G>TCA657739719CDKL5c.2277-40G>T (n.2277-40G>T)
c.2226-40G>T (n.2226-40G>T)
c.2145-40G>T (n.2145-40G>T)
n.2529-40G>T
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.18619828A=CA2417979396CDKL5c.2277-39A= (n.2277-39A=)
c.2226-39A= (n.2226-39A=)
c.2145-39A= (n.2145-39A=)
n.2529-39A=
Xg.18619828A>GCA10360525CDKL5c.2277-39A>G (n.2277-39A>G)
c.2226-39A>G (n.2226-39A>G)
c.2145-39A>G (n.2145-39A>G)
n.2529-39A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18619829T>CCA2693223285CDKL5c.2277-38T>C (n.2277-38T>C)
c.2226-38T>C (n.2226-38T>C)
c.2145-38T>C (n.2145-38T>C)
n.2529-38T>C
 gnomAD v4
Xg.18619831G>ACA657739722CDKL5c.2277-36G>A (n.2277-36G>A)
c.2226-36G>A (n.2226-36G>A)
c.2145-36G>A (n.2145-36G>A)
n.2529-36G>A
 COSMIC
Xg.18619832A=CA2417979397CDKL5c.2277-35A= (n.2277-35A=)
c.2226-35A= (n.2226-35A=)
c.2145-35A= (n.2145-35A=)
n.2529-35A=
Xg.18619832A>CCA327007680CDKL5c.2277-35A>C (n.2277-35A>C)
c.2226-35A>C (n.2226-35A>C)
c.2145-35A>C (n.2145-35A>C)
n.2529-35A>C
 dbSNP
Xg.18619833A>GCA2579563028CDKL5c.2277-34A>G (n.2277-34A>G)
c.2226-34A>G (n.2226-34A>G)
c.2145-34A>G (n.2145-34A>G)
n.2529-34A>G
 gnomAD v4
Xg.18619838C>ACA2693223286CDKL5c.2277-29C>A (n.2277-29C>A)
c.2226-29C>A (n.2226-29C>A)
c.2145-29C>A (n.2145-29C>A)
n.2529-29C>A
 gnomAD v4
Xg.18619840A=CA2417979398CDKL5c.2277-27A= (n.2277-27A=)
c.2226-27A= (n.2226-27A=)
c.2145-27A= (n.2145-27A=)
n.2529-27A=
Xg.18619840A>GCA640510401CDKL5c.2277-27A>G (n.2277-27A>G)
c.2226-27A>G (n.2226-27A>G)
c.2145-27A>G (n.2145-27A>G)
n.2529-27A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18619841T>CCA2417979400CDKL5c.2277-26T>C (n.2277-26T>C)
c.2226-26T>C (n.2226-26T>C)
c.2145-26T>C (n.2145-26T>C)
n.2529-26T>C
 dbSNP gnomAD v4
Xg.18619841T=CA2417979399CDKL5c.2277-26T= (n.2277-26T=)
c.2226-26T= (n.2226-26T=)
c.2145-26T= (n.2145-26T=)
n.2529-26T=
Xg.18619842A=CA2417979401CDKL5c.2277-25A= (n.2277-25A=)
c.2226-25A= (n.2226-25A=)
c.2145-25A= (n.2145-25A=)
n.2529-25A=
Xg.18619842A>GCA2417979402CDKL5c.2277-25A>G (n.2277-25A>G)
c.2226-25A>G (n.2226-25A>G)
c.2145-25A>G (n.2145-25A>G)
n.2529-25A>G
 dbSNP
Xg.18619843T>ACA640510408CDKL5c.2277-24T>A (n.2277-24T>A)
c.2226-24T>A (n.2226-24T>A)
c.2145-24T>A (n.2145-24T>A)
n.2529-24T>A
 dbSNP gnomAD v2
Xg.18619843T=CA2417979403CDKL5c.2277-24T= (n.2277-24T=)
c.2226-24T= (n.2226-24T=)
c.2145-24T= (n.2145-24T=)
n.2529-24T=
Xg.18619844G>ACA640510411CDKL5c.2277-23G>A (n.2277-23G>A)
c.2226-23G>A (n.2226-23G>A)
c.2145-23G>A (n.2145-23G>A)
n.2529-23G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18619844G=CA2417979404CDKL5c.2277-23G= (n.2277-23G=)
c.2226-23G= (n.2226-23G=)
c.2145-23G= (n.2145-23G=)
n.2529-23G=
Xg.18619845A>GCA2693223287CDKL5c.2277-22A>G (n.2277-22A>G)
c.2226-22A>G (n.2226-22A>G)
c.2145-22A>G (n.2145-22A>G)
n.2529-22A>G
 gnomAD v4
Xg.18619851dupCA2738437347CDKL5c.2277-16dup (n.2277-16dup)
c.2226-16dup (n.2226-16dup)
c.2145-16dup (n.2145-16dup)
n.2529-16dup
 dbSNP
Xg.18619848A>TCA2693223288CDKL5c.2277-19A>T (n.2277-19A>T)
c.2226-19A>T (n.2226-19A>T)
c.2145-19A>T (n.2145-19A>T)
n.2529-19A>T
 gnomAD v4
Xg.18619849A>GCA2693223289CDKL5c.2277-18A>G (n.2277-18A>G)
c.2226-18A>G (n.2226-18A>G)
c.2145-18A>G (n.2145-18A>G)
n.2529-18A>G
 gnomAD v4
Xg.18619850A=CA2417979405CDKL5c.2277-17A= (n.2277-17A=)
c.2226-17A= (n.2226-17A=)
c.2145-17A= (n.2145-17A=)
n.2529-17A=
Xg.18619850A>CCA10360526CDKL5c.2277-17A>C (n.2277-17A>C)
c.2226-17A>C (n.2226-17A>C)
c.2145-17A>C (n.2145-17A>C)
n.2529-17A>C
 dbSNP ExAC gnomAD v2
Xg.18619850A>GCA2693223290CDKL5c.2277-17A>G (n.2277-17A>G)
c.2226-17A>G (n.2226-17A>G)
c.2145-17A>G (n.2145-17A>G)
n.2529-17A>G
 gnomAD v4
Xg.18619851A=CA2417979406CDKL5c.2277-16A= (n.2277-16A=)
c.2226-16A= (n.2226-16A=)
c.2145-16A= (n.2145-16A=)
n.2529-16A=
Xg.18619851A>GCA2417979407CDKL5c.2277-16A>G (n.2277-16A>G)
c.2226-16A>G (n.2226-16A>G)
c.2145-16A>G (n.2145-16A>G)
n.2529-16A>G
 dbSNP
Xg.18619853G>ACA2417979409CDKL5c.2277-14G>A (n.2277-14G>A)
c.2226-14G>A (n.2226-14G>A)
c.2145-14G>A (n.2145-14G>A)
n.2529-14G>A
 dbSNP
Xg.18619853G=CA2417979408CDKL5c.2277-14G= (n.2277-14G=)
c.2226-14G= (n.2226-14G=)
c.2145-14G= (n.2145-14G=)
n.2529-14G=
Xg.18619854T>ACA2499226525CDKL5c.2277-13T>A (n.2277-13T>A)
c.2226-13T>A (n.2226-13T>A)
c.2145-13T>A (n.2145-13T>A)
n.2529-13T>A
 ClinVar dbSNP
Xg.18619854T>CCA640510413CDKL5c.2277-13T>C (n.2277-13T>C)
c.2226-13T>C (n.2226-13T>C)
c.2145-13T>C (n.2145-13T>C)
n.2529-13T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18619854T=CA2417979410CDKL5c.2277-13T= (n.2277-13T=)
c.2226-13T= (n.2226-13T=)
c.2145-13T= (n.2145-13T=)
n.2529-13T=
Xg.18619855C>ACA2693223292CDKL5c.2277-12C>A (n.2277-12C>A)
c.2226-12C>A (n.2226-12C>A)
c.2145-12C>A (n.2145-12C>A)
n.2529-12C>A
 gnomAD v4
Xg.18619855C>TCA2693223291CDKL5c.2277-12C>T (n.2277-12C>T)
c.2226-12C>T (n.2226-12C>T)
c.2145-12C>T (n.2145-12C>T)
n.2529-12C>T
 gnomAD v4
Xg.18619856T>CCA640510415CDKL5c.2277-11T>C (n.2277-11T>C)
c.2226-11T>C (n.2226-11T>C)
c.2145-11T>C (n.2145-11T>C)
n.2529-11T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.18619856T=CA2417979411CDKL5c.2277-11T= (n.2277-11T=)
c.2226-11T= (n.2226-11T=)
c.2145-11T= (n.2145-11T=)
n.2529-11T=
Xg.18619857T>CCA2693223293CDKL5c.2277-10T>C (n.2277-10T>C)
c.2226-10T>C (n.2226-10T>C)
c.2145-10T>C (n.2145-10T>C)
n.2529-10T>C
 gnomAD v4
Xg.18619858C>ACA2693223294CDKL5c.2277-9C>A (n.2277-9C>A)
c.2226-9C>A (n.2226-9C>A)
c.2145-9C>A (n.2145-9C>A)
n.2529-9C>A
 gnomAD v4
Xg.18619859T>CCA640510416CDKL5c.2277-8T>C (n.2277-8T>C)
c.2226-8T>C (n.2226-8T>C)
c.2145-8T>C (n.2145-8T>C)
n.2529-8T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18619859T=CA2417979412CDKL5c.2277-8T= (n.2277-8T=)
c.2226-8T= (n.2226-8T=)
c.2145-8T= (n.2145-8T=)
n.2529-8T=
Xg.18619860C>ACA2693223295CDKL5c.2277-7C>A (n.2277-7C>A)
c.2226-7C>A (n.2226-7C>A)
c.2145-7C>A (n.2145-7C>A)
n.2529-7C>A
 gnomAD v4
Xg.18619860C=CA2417979413CDKL5c.2277-7C= (n.2277-7C=)
c.2226-7C= (n.2226-7C=)
c.2145-7C= (n.2145-7C=)
n.2529-7C=
Xg.18619860C>TCA640510418CDKL5c.2277-7C>T (n.2277-7C>T)
c.2226-7C>T (n.2226-7C>T)
c.2145-7C>T (n.2145-7C>T)
n.2529-7C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18619861A=CA2417979414CDKL5c.2277-6A= (n.2277-6A=)
c.2226-6A= (n.2226-6A=)
c.2145-6A= (n.2145-6A=)
n.2529-6A=
Xg.18619861A>GCA640510420CDKL5c.2277-6A>G (n.2277-6A>G)
c.2226-6A>G (n.2226-6A>G)
c.2145-6A>G (n.2145-6A>G)
n.2529-6A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18619862T>CCA2693223296CDKL5c.2277-5T>C (n.2277-5T>C)
c.2226-5T>C (n.2226-5T>C)
c.2145-5T>C (n.2145-5T>C)
n.2529-5T>C
 gnomAD v4
Xg.18619864delCA2542854795CDKL5c.2277-3del (n.2277-3del)
c.2226-3del (n.2226-3del)
c.2145-3del (n.2145-3del)
n.2529-3del
 gnomAD v4
Xg.18619863T>CCA16621284CDKL5c.2277-4T>C (n.2277-4T>C)
c.2226-4T>C (n.2226-4T>C)
c.2145-4T>C (n.2145-4T>C)
n.2529-4T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18619863T=CA2417979415CDKL5c.2277-4T= (n.2277-4T=)
c.2226-4T= (n.2226-4T=)
c.2145-4T= (n.2145-4T=)
n.2529-4T=
Xg.18619864T>CCA2693223297CDKL5c.2277-3T>C (n.2277-3T>C)
c.2226-3T>C (n.2226-3T>C)
c.2145-3T>C (n.2145-3T>C)
n.2529-3T>C
 gnomAD v4
Xg.18619865A=CA2417979416CDKL5c.2277-2A= (n.2277-2A=)
c.2226-2A= (n.2226-2A=)
c.2145-2A= (n.2145-2A=)
n.2529-2A=
Xg.18619865A>CCA412363035CDKL5c.2277-2A>C (n.2277-2A>C)
c.2226-2A>C (n.2226-2A>C)
c.2145-2A>C (n.2145-2A>C)
n.2529-2A>C
Xg.18619865A>GCA199389CDKL5c.2277-2A>G (n.2277-2A>G)
c.2226-2A>G (n.2226-2A>G)
c.2145-2A>G (n.2145-2A>G)
n.2529-2A>G
 ClinVar dbSNP gnomAD v4
Xg.18619865A>TCA412363045CDKL5c.2277-2A>T (n.2277-2A>T)
c.2226-2A>T (n.2226-2A>T)
c.2145-2A>T (n.2145-2A>T)
n.2529-2A>T
 gnomAD v4
Xg.18619866G>ACA412363051CDKL5c.2277-1G>A (n.2277-1G>A)
c.2226-1G>A (n.2226-1G>A)
c.2145-1G>A (n.2145-1G>A)
n.2529-1G>A
Xg.18619866G>CCA412363054CDKL5c.2277-1G>C (n.2277-1G>C)
c.2226-1G>C (n.2226-1G>C)
c.2145-1G>C (n.2145-1G>C)
n.2529-1G>C
Xg.18619866G>TCA412363060CDKL5c.2277-1G>T (n.2277-1G>T)
c.2226-1G>T (n.2226-1G>T)
c.2145-1G>T (n.2145-1G>T)
n.2529-1G>T
Xg.18619867G>ACA412363064CDKL5c.2277G>A (p.Trp759Ter)
c.2226G>A (p.Trp742Ter)
c.2145G>A (p.Trp715Ter)
n.2529G>A
 ClinVar
Xg.18619867G>CCA412363069CDKL5c.2277G>C (p.Trp759Cys)
c.2226G>C (p.Trp742Cys)
c.2145G>C (p.Trp715Cys)
n.2529G>C
Xg.18619867G>TCA412363083CDKL5c.2277G>T (p.Trp759Cys)
c.2226G>T (p.Trp742Cys)
c.2145G>T (p.Trp715Cys)
n.2529G>T
Xg.18619868A>CCA412363087CDKL5c.2278A>C (p.Lys760Gln)
c.2227A>C (p.Lys743Gln)
c.2146A>C (p.Lys716Gln)
n.2530A>C
Xg.18619868A>GCA412363091CDKL5c.2278A>G (p.Lys760Glu)
c.2227A>G (p.Lys743Glu)
c.2146A>G (p.Lys716Glu)
n.2530A>G
 gnomAD v4
Xg.18619868A>TCA412363101CDKL5c.2278A>T (p.Lys760Ter)
c.2227A>T (p.Lys743Ter)
c.2146A>T (p.Lys716Ter)
n.2530A>T
Xg.18619871delCA2693223298CDKL5c.2281del (p.Ser761ValfsTer23)
c.2230del (p.Ser744ValfsTer23)
c.2149del (p.Ser717ValfsTer23)
n.2533del
 gnomAD v4
Xg.18619869A=CA2417979417CDKL5c.2279A= (p.Lys760=)
c.2228A= (p.Lys743=)
c.2147A= (p.Lys716=)
n.2531A=
Xg.18619869A>CCA412363112CDKL5c.2279A>C (p.Lys760Thr)
c.2228A>C (p.Lys743Thr)
c.2147A>C (p.Lys716Thr)
n.2531A>C
Xg.18619869A>GCA412363109CDKL5c.2279A>G (p.Lys760Arg)
c.2228A>G (p.Lys743Arg)
c.2147A>G (p.Lys716Arg)
n.2531A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18619869A>TCA412363106CDKL5c.2279A>T (p.Lys760Ile)
c.2228A>T (p.Lys743Ile)
c.2147A>T (p.Lys716Ile)
n.2531A>T
Xg.18619870A>CCA412363130CDKL5c.2280A>C (p.Lys760Asn)
c.2229A>C (p.Lys743Asn)
c.2148A>C (p.Lys716Asn)
n.2532A>C
Xg.18619870A>GCA515470224CDKL5c.2280A>G (p.Lys760=)
c.2229A>G (p.Lys743=)
c.2148A>G (p.Lys716=)
n.2532A>G
 gnomAD v4
Xg.18619870A>TCA412363131CDKL5c.2280A>T (p.Lys760Asn)
c.2229A>T (p.Lys743Asn)
c.2148A>T (p.Lys716Asn)
n.2532A>T
Xg.18619871A>CCA412363134CDKL5c.2281A>C (p.Ser761Arg)
c.2230A>C (p.Ser744Arg)
c.2149A>C (p.Ser717Arg)
n.2533A>C
Xg.18619871A>GCA412363137CDKL5c.2281A>G (p.Ser761Gly)
c.2230A>G (p.Ser744Gly)
c.2149A>G (p.Ser717Gly)
n.2533A>G
Xg.18619871A>TCA412363138CDKL5c.2281A>T (p.Ser761Cys)
c.2230A>T (p.Ser744Cys)
c.2149A>T (p.Ser717Cys)
n.2533A>T
Xg.18619872G>ACA412363141CDKL5c.2282G>A (p.Ser761Asn)
c.2231G>A (p.Ser744Asn)
c.2150G>A (p.Ser717Asn)
n.2534G>A
Xg.18619872G>CCA412363144CDKL5c.2282G>C (p.Ser761Thr)
c.2231G>C (p.Ser744Thr)
c.2150G>C (p.Ser717Thr)
n.2534G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.18619872G=CA2417979418CDKL5c.2282G= (p.Ser761=)
c.2231G= (p.Ser744=)
c.2150G= (p.Ser717=)
n.2534G=
Xg.18619872G>TCA412363150CDKL5c.2282G>T (p.Ser761Ile)
c.2231G>T (p.Ser744Ile)
c.2150G>T (p.Ser717Ile)
n.2534G>T
Xg.18619873T>ACA412363154CDKL5c.2283T>A (p.Ser761Arg)
c.2232T>A (p.Ser744Arg)
c.2151T>A (p.Ser717Arg)
n.2535T>A
Xg.18619873T>CCA515470225CDKL5c.2283T>C (p.Ser761=)
c.2232T>C (p.Ser744=)
c.2151T>C (p.Ser717=)
n.2535T>C
Xg.18619873T>GCA412363159CDKL5c.2283T>G (p.Ser761Arg)
c.2232T>G (p.Ser744Arg)
c.2151T>G (p.Ser717Arg)
n.2535T>G
Xg.18619874C>ACA412363171CDKL5c.2284C>A (p.Pro762Thr)
c.2233C>A (p.Pro745Thr)
c.2152C>A (p.Pro718Thr)
n.2536C>A
 gnomAD v4
Xg.18619874C>GCA412363176CDKL5c.2284C>G (p.Pro762Ala)
c.2233C>G (p.Pro745Ala)
c.2152C>G (p.Pro718Ala)
n.2536C>G
Xg.18619874C>TCA412363179CDKL5c.2284C>T (p.Pro762Ser)
c.2233C>T (p.Pro745Ser)
c.2152C>T (p.Pro718Ser)
n.2536C>T
 gnomAD v4
Xg.18619874_18619877delCA2500192229CDKL5c.2284_2287del (p.Pro762LysfsTer21)
c.2233_2236del (p.Pro745LysfsTer21)
c.2152_2155del (p.Pro718LysfsTer21)
n.2536_2539del
Xg.18619875C>ACA412363206CDKL5c.2285C>A (p.Pro762His)
c.2234C>A (p.Pro745His)
c.2153C>A (p.Pro718His)
n.2537C>A
 gnomAD v4
Xg.18619875C=CA2417979419CDKL5c.2285C= (p.Pro762=)
c.2234C= (p.Pro745=)
c.2153C= (p.Pro718=)
n.2537C=
Xg.18619875C>GCA412363198CDKL5c.2285C>G (p.Pro762Arg)
c.2234C>G (p.Pro745Arg)
c.2153C>G (p.Pro718Arg)
n.2537C>G
Xg.18619875C>TCA412363192CDKL5c.2285C>T (p.Pro762Leu)
c.2234C>T (p.Pro745Leu)
c.2153C>T (p.Pro718Leu)
n.2537C>T
 dbSNP gnomAD v4
Xg.18619876T>ACA515470226CDKL5c.2286T>A (p.Pro762=)
c.2235T>A (p.Pro745=)
c.2154T>A (p.Pro718=)
n.2538T>A
Xg.18619876T>CCA515470228CDKL5c.2286T>C (p.Pro762=)
c.2235T>C (p.Pro745=)
c.2154T>C (p.Pro718=)
n.2538T>C
 gnomAD v4
Xg.18619876T>GCA515470227CDKL5c.2286T>G (p.Pro762=)
c.2235T>G (p.Pro745=)
c.2154T>G (p.Pro718=)
n.2538T>G
Xg.18619877G>ACA412363212CDKL5c.2287G>A (p.Glu763Lys)
c.2236G>A (p.Glu746Lys)
c.2155G>A (p.Glu719Lys)
n.2539G>A
 gnomAD v4
Xg.18619877G>CCA412363210CDKL5c.2287G>C (p.Glu763Gln)
c.2236G>C (p.Glu746Gln)
c.2155G>C (p.Glu719Gln)
n.2539G>C
Xg.18619877G>TCA412363211CDKL5c.2287G>T (p.Glu763Ter)
c.2236G>T (p.Glu746Ter)
c.2155G>T (p.Glu719Ter)
n.2539G>T
Xg.18619878A>CCA412363213CDKL5c.2288A>C (p.Glu763Ala)
c.2237A>C (p.Glu746Ala)
c.2156A>C (p.Glu719Ala)
n.2540A>C
Xg.18619878A>GCA412363216CDKL5c.2288A>G (p.Glu763Gly)
c.2237A>G (p.Glu746Gly)
c.2156A>G (p.Glu719Gly)
n.2540A>G
 gnomAD v4
Xg.18619878A>TCA412363217CDKL5c.2288A>T (p.Glu763Val)
c.2237A>T (p.Glu746Val)
c.2156A>T (p.Glu719Val)
n.2540A>T
Xg.18619879_18619881dupCA2519742943CDKL5c.2289_2291dup (p.Glu763_Asn764insLys)
c.2238_2240dup (p.Glu746_Asn747insLys)
c.2157_2159dup (p.Glu719_Asn720insLys)
n.2541_2543dup
Xg.18619879A>CCA412363222CDKL5c.2289A>C (p.Glu763Asp)
c.2238A>C (p.Glu746Asp)
c.2157A>C (p.Glu719Asp)
n.2541A>C
 gnomAD v4
Xg.18619879A>GCA515470229CDKL5c.2289A>G (p.Glu763=)
c.2238A>G (p.Glu746=)
c.2157A>G (p.Glu719=)
n.2541A>G
Xg.18619879A>TCA412363232CDKL5c.2289A>T (p.Glu763Asp)
c.2238A>T (p.Glu746Asp)
c.2157A>T (p.Glu719Asp)
n.2541A>T
Xg.18619880A>CCA412363239CDKL5c.2290A>C (p.Asn764His)
c.2239A>C (p.Asn747His)
c.2158A>C (p.Asn720His)
n.2542A>C
Xg.18619880A>GCA412363236CDKL5c.2290A>G (p.Asn764Asp)
c.2239A>G (p.Asn747Asp)
c.2158A>G (p.Asn720Asp)
n.2542A>G
Xg.18619880A>TCA412363237CDKL5c.2290A>T (p.Asn764Tyr)
c.2239A>T (p.Asn747Tyr)
c.2158A>T (p.Asn720Tyr)
n.2542A>T
Xg.18619881A>CCA412363242CDKL5c.2291A>C (p.Asn764Thr)
c.2240A>C (p.Asn747Thr)
c.2159A>C (p.Asn720Thr)
n.2543A>C
Xg.18619881A>GCA412363245CDKL5c.2291A>G (p.Asn764Ser)
c.2240A>G (p.Asn747Ser)
c.2159A>G (p.Asn720Ser)
n.2543A>G
Xg.18619881A>TCA412363248CDKL5c.2291A>T (p.Asn764Ile)
c.2240A>T (p.Asn747Ile)
c.2159A>T (p.Asn720Ile)
n.2543A>T
Xg.18619882T>ACA412363251CDKL5c.2292T>A (p.Asn764Lys)
c.2241T>A (p.Asn747Lys)
c.2160T>A (p.Asn720Lys)
n.2544T>A
Xg.18619882T>CCA515470230CDKL5c.2292T>C (p.Asn764=)
c.2241T>C (p.Asn747=)
c.2160T>C (p.Asn720=)
n.2544T>C
 dbSNP
Xg.18619882T>GCA412363254CDKL5c.2292T>G (p.Asn764Lys)
c.2241T>G (p.Asn747Lys)
c.2160T>G (p.Asn720Lys)
n.2544T>G
Xg.18619882T=CA2417979420CDKL5c.2292T= (p.Asn764=)
c.2241T= (p.Asn747=)
c.2160T= (p.Asn720=)
n.2544T=
Xg.18619883A>CCA412363269CDKL5c.2293A>C (p.Ile765Leu)
c.2242A>C (p.Ile748Leu)
c.2161A>C (p.Ile721Leu)
n.2545A>C
Xg.18619883A>GCA412363272CDKL5c.2293A>G (p.Ile765Val)
c.2242A>G (p.Ile748Val)
c.2161A>G (p.Ile721Val)
n.2545A>G
Xg.18619883A>TCA412363270CDKL5c.2293A>T (p.Ile765Phe)
c.2242A>T (p.Ile748Phe)
c.2161A>T (p.Ile721Phe)
n.2545A>T
Xg.18619884T>ACA412363275CDKL5c.2294T>A (p.Ile765Asn)
c.2243T>A (p.Ile748Asn)
c.2162T>A (p.Ile721Asn)
n.2546T>A
Xg.18619884T>CCA412363278CDKL5c.2294T>C (p.Ile765Thr)
c.2243T>C (p.Ile748Thr)
c.2162T>C (p.Ile721Thr)
n.2546T>C
Xg.18619884T>GCA412363282CDKL5c.2294T>G (p.Ile765Ser)
c.2243T>G (p.Ile748Ser)
c.2162T>G (p.Ile721Ser)
n.2546T>G
Xg.18619885delCA2693223299CDKL5c.2295del (p.Ser766ValfsTer18)
c.2244del (p.Ser749ValfsTer18)
c.2163del (p.Ser722ValfsTer18)
n.2547del
 gnomAD v4
Xg.18619885T>ACA515470232CDKL5c.2295T>A (p.Ile765=)
c.2244T>A (p.Ile748=)
c.2163T>A (p.Ile721=)
n.2547T>A
Xg.18619885T>CCA515470233CDKL5c.2295T>C (p.Ile765=)
c.2244T>C (p.Ile748=)
c.2163T>C (p.Ile721=)
n.2547T>C
Xg.18619885T>GCA412363286CDKL5c.2295T>G (p.Ile765Met)
c.2244T>G (p.Ile748Met)
c.2163T>G (p.Ile721Met)
n.2547T>G
Xg.18619886A=CA2417979421CDKL5c.2296A= (p.Ser766=)
c.2245A= (p.Ser749=)
c.2164A= (p.Ser722=)
n.2548A=
Xg.18619886A>CCA412363290CDKL5c.2296A>C (p.Ser766Arg)
c.2245A>C (p.Ser749Arg)
c.2164A>C (p.Ser722Arg)
n.2548A>C
Xg.18619886A>GCA412363292CDKL5c.2296A>G (p.Ser766Gly)
c.2245A>G (p.Ser749Gly)
c.2164A>G (p.Ser722Gly)
n.2548A>G
 COSMIC
Xg.18619886A>TCA412363296CDKL5c.2296A>T (p.Ser766Cys)
c.2245A>T (p.Ser749Cys)
c.2164A>T (p.Ser722Cys)
n.2548A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18619886_18619887insACACA2819902195CDKL5c.2296_2297insACA (p.Ile765_Ser766insAsn)
c.2245_2246insACA (p.Ile748_Ser749insAsn)
c.2164_2165insACA (p.Ile721_Ser722insAsn)
n.2548_2549insACA
Xg.18619887G>ACA412363300CDKL5c.2297G>A (p.Ser766Asn)
c.2246G>A (p.Ser749Asn)
c.2165G>A (p.Ser722Asn)
n.2549G>A
 ClinVar
Xg.18619887G>CCA412363301CDKL5c.2297G>C (p.Ser766Thr)
c.2246G>C (p.Ser749Thr)
c.2165G>C (p.Ser722Thr)
n.2549G>C
Xg.18619887G>TCA412363302CDKL5c.2297G>T (p.Ser766Ile)
c.2246G>T (p.Ser749Ile)
c.2165G>T (p.Ser722Ile)
n.2549G>T
Xg.18619888T>ACA412363303CDKL5c.2298T>A (p.Ser766Arg)
c.2247T>A (p.Ser749Arg)
c.2166T>A (p.Ser722Arg)
n.2550T>A
Xg.18619888T>CCA515470234CDKL5c.2298T>C (p.Ser766=)
c.2247T>C (p.Ser749=)
c.2166T>C (p.Ser722=)
n.2550T>C
Xg.18619888T>GCA412363306CDKL5c.2298T>G (p.Ser766Arg)
c.2247T>G (p.Ser749Arg)
c.2166T>G (p.Ser722Arg)
n.2550T>G
Xg.18619889delCA2579563029CDKL5c.2299del (p.His767IlefsTer17)
c.2248del (p.His750IlefsTer17)
c.2167del (p.His723IlefsTer17)
n.2551del
Xg.18619889C>ACA412363309CDKL5c.2299C>A (p.His767Asn)
c.2248C>A (p.His750Asn)
c.2167C>A (p.His723Asn)
n.2551C>A
 gnomAD v4
Xg.18619889C>GCA412363334CDKL5c.2299C>G (p.His767Asp)
c.2248C>G (p.His750Asp)
c.2167C>G (p.His723Asp)
n.2551C>G
Xg.18619889C>TCA412363312CDKL5c.2299C>T (p.His767Tyr)
c.2248C>T (p.His750Tyr)
c.2167C>T (p.His723Tyr)
n.2551C>T
Xg.18619890A>CCA412363340CDKL5c.2300A>C (p.His767Pro)
c.2249A>C (p.His750Pro)
c.2168A>C (p.His723Pro)
n.2552A>C
Xg.18619890A>GCA412363344CDKL5c.2300A>G (p.His767Arg)
c.2249A>G (p.His750Arg)
c.2168A>G (p.His723Arg)
n.2552A>G
 gnomAD v4
Xg.18619890A>TCA412363347CDKL5c.2300A>T (p.His767Leu)
c.2249A>T (p.His750Leu)
c.2168A>T (p.His723Leu)
n.2552A>T
Xg.18619891T>ACA412363351CDKL5c.2301T>A (p.His767Gln)
c.2250T>A (p.His750Gln)
c.2169T>A (p.His723Gln)
n.2553T>A
Xg.18619891T>CCA515470235CDKL5c.2301T>C (p.His767=)
c.2250T>C (p.His750=)
c.2169T>C (p.His723=)
n.2553T>C
 gnomAD v4
Xg.18619891T>GCA412363355CDKL5c.2301T>G (p.His767Gln)
c.2250T>G (p.His750Gln)
c.2169T>G (p.His723Gln)
n.2553T>G
Xg.18619892T>ACA412363364CDKL5c.2302T>A (p.Ser768Thr)
c.2251T>A (p.Ser751Thr)
c.2170T>A (p.Ser724Thr)
n.2554T>A
 gnomAD v4
Xg.18619892T>CCA412363361CDKL5c.2302T>C (p.Ser768Pro)
c.2251T>C (p.Ser751Pro)
c.2170T>C (p.Ser724Pro)
n.2554T>C
Xg.18619892T>GCA412363358CDKL5c.2302T>G (p.Ser768Ala)
c.2251T>G (p.Ser751Ala)
c.2170T>G (p.Ser724Ala)
n.2554T>G
Xg.18619893C>ACA412363377CDKL5c.2303C>A (p.Ser768Ter)
c.2252C>A (p.Ser751Ter)
c.2171C>A (p.Ser724Ter)
n.2555C>A
 gnomAD v4
Xg.18619893C>GCA412363379CDKL5c.2303C>G (p.Ser768Ter)
c.2252C>G (p.Ser751Ter)
c.2171C>G (p.Ser724Ter)
n.2555C>G
Xg.18619893C>TCA412363384CDKL5c.2303C>T (p.Ser768Leu)
c.2252C>T (p.Ser751Leu)
c.2171C>T (p.Ser724Leu)
n.2555C>T
Xg.18619894A>CCA515470236CDKL5c.2304A>C (p.Ser768=)
c.2253A>C (p.Ser751=)
c.2172A>C (p.Ser724=)
n.2556A>C
Xg.18619894A>GCA515470237CDKL5c.2304A>G (p.Ser768=)
c.2253A>G (p.Ser751=)
c.2172A>G (p.Ser724=)
n.2556A>G
Xg.18619894A>TCA515470238CDKL5c.2304A>T (p.Ser768=)
c.2253A>T (p.Ser751=)
c.2172A>T (p.Ser724=)
n.2556A>T
Xg.18619895G>ACA412363386CDKL5c.2305G>A (p.Glu769Lys)
c.2254G>A (p.Glu752Lys)
c.2173G>A (p.Glu725Lys)
n.2557G>A
Xg.18619895G>CCA412363388CDKL5c.2305G>C (p.Glu769Gln)
c.2254G>C (p.Glu752Gln)
c.2173G>C (p.Glu725Gln)
n.2557G>C
Xg.18619895G=CA2417979422CDKL5c.2305G= (p.Glu769=)
c.2254G= (p.Glu752=)
c.2173G= (p.Glu725=)
n.2557G=
Xg.18619895G>TCA10603551CDKL5c.2305G>T (p.Glu769Ter)
c.2254G>T (p.Glu752Ter)
c.2173G>T (p.Glu725Ter)
n.2557G>T
 ClinVar dbSNP
Xg.18619896A>CCA412363418CDKL5c.2306A>C (p.Glu769Ala)
c.2255A>C (p.Glu752Ala)
c.2174A>C (p.Glu725Ala)
n.2558A>C
Xg.18619896A>GCA412363413CDKL5c.2306A>G (p.Glu769Gly)
c.2255A>G (p.Glu752Gly)
c.2174A>G (p.Glu725Gly)
n.2558A>G
Xg.18619896A>TCA412363410CDKL5c.2306A>T (p.Glu769Val)
c.2255A>T (p.Glu752Val)
c.2174A>T (p.Glu725Val)
n.2558A>T
Xg.18619897_18619899dupCA412363398CDKL5c.2307_2309dup (p.Gln770_Leu771insGln)
c.2256_2258dup (p.Gln753_Leu754insGln)
c.2175_2177dup (p.Gln726_Leu727insGln)
n.2559_2561dup
 ClinVar dbSNP
Xg.18619897G>ACA515470239CDKL5c.2307G>A (p.Glu769=)
c.2256G>A (p.Glu752=)
c.2175G>A (p.Glu725=)
n.2559G>A
 gnomAD v4
Xg.18619897G>CCA412363424CDKL5c.2307G>C (p.Glu769Asp)
c.2256G>C (p.Glu752Asp)
c.2175G>C (p.Glu725Asp)
n.2559G>C
Xg.18619897G>TCA412363428CDKL5c.2307G>T (p.Glu769Asp)
c.2256G>T (p.Glu752Asp)
c.2175G>T (p.Glu725Asp)
n.2559G>T
Xg.18619898C>ACA199333CDKL5c.2308C>A (p.Gln770Lys)
c.2257C>A (p.Gln753Lys)
c.2176C>A (p.Gln726Lys)
n.2560C>A
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.18619898C=CA2417979423CDKL5c.2308C= (p.Gln770=)
c.2257C= (p.Gln753=)
c.2176C= (p.Gln726=)
n.2560C=
Xg.18619898C>GCA412363439CDKL5c.2308C>G (p.Gln770Glu)
c.2257C>G (p.Gln753Glu)
c.2176C>G (p.Gln726Glu)
n.2560C>G
Xg.18619898C>TCA412363442CDKL5c.2308C>T (p.Gln770Ter)
c.2257C>T (p.Gln753Ter)
c.2176C>T (p.Gln726Ter)
n.2560C>T
 gnomAD v4
Xg.18619899A>CCA412363448CDKL5c.2309A>C (p.Gln770Pro)
c.2258A>C (p.Gln753Pro)
c.2177A>C (p.Gln726Pro)
n.2561A>C
Xg.18619899A>GCA412363452CDKL5c.2309A>G (p.Gln770Arg)
c.2258A>G (p.Gln753Arg)
c.2177A>G (p.Gln726Arg)
n.2561A>G
Xg.18619899A>TCA412363454CDKL5c.2309A>T (p.Gln770Leu)
c.2258A>T (p.Gln753Leu)
c.2177A>T (p.Gln726Leu)
n.2561A>T
Xg.18619900A>CCA412363456CDKL5c.2310A>C (p.Gln770His)
c.2259A>C (p.Gln753His)
c.2178A>C (p.Gln726His)
n.2562A>C
Xg.18619900A>GCA515470240CDKL5c.2310A>G (p.Gln770=)
c.2259A>G (p.Gln753=)
c.2178A>G (p.Gln726=)
n.2562A>G
Xg.18619900A>TCA412363462CDKL5c.2310A>T (p.Gln770His)
c.2259A>T (p.Gln753His)
c.2178A>T (p.Gln726His)
n.2562A>T
 ClinVar dbSNP
Xg.18619901C>ACA412363464CDKL5c.2311C>A (p.Leu771Ile)
c.2260C>A (p.Leu754Ile)
c.2179C>A (p.Leu727Ile)
n.2563C>A
Xg.18619901C>GCA412363466CDKL5c.2311C>G (p.Leu771Val)
c.2260C>G (p.Leu754Val)
c.2179C>G (p.Leu727Val)
n.2563C>G
Xg.18619901C>TCA412363463CDKL5c.2311C>T (p.Leu771Phe)
c.2260C>T (p.Leu754Phe)
c.2179C>T (p.Leu727Phe)
n.2563C>T
Xg.18619902T>ACA412363470CDKL5c.2312T>A (p.Leu771His)
c.2261T>A (p.Leu754His)
c.2180T>A (p.Leu727His)
n.2564T>A
 COSMIC
Xg.18619902T>CCA412363473CDKL5c.2312T>C (p.Leu771Pro)
c.2261T>C (p.Leu754Pro)
c.2180T>C (p.Leu727Pro)
n.2564T>C
Xg.18619902T>GCA412363472CDKL5c.2312T>G (p.Leu771Arg)
c.2261T>G (p.Leu754Arg)
c.2180T>G (p.Leu727Arg)
n.2564T>G

Number of alleles fetched