Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18580508_18584414delCA199399CDKL5c.403+540_554+61del
c.271+540_422+61del
n.655+540_806+61del
 ClinVar
Xg.18584199T>CCA2579562813CDKL5c.464-64T>C (n.464-64T>C)
c.332-64T>C (n.332-64T>C)
n.716-64T>C
 gnomAD v4
Xg.18584200T>CCA2693221621CDKL5c.464-63T>C (n.464-63T>C)
c.332-63T>C (n.332-63T>C)
n.716-63T>C
 gnomAD v4
Xg.18584203G>ACA640510057CDKL5c.464-60G>A (n.464-60G>A)
c.332-60G>A (n.332-60G>A)
n.716-60G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584203G=CA2417967994CDKL5c.464-60G= (n.464-60G=)
c.332-60G= (n.332-60G=)
n.716-60G=
Xg.18584203G>TCA1131400697CDKL5c.464-60G>T (n.464-60G>T)
c.332-60G>T (n.332-60G>T)
n.716-60G>T
 dbSNP gnomAD v4
Xg.18584204C>ACA873656191CDKL5c.464-59C>A (n.464-59C>A)
c.332-59C>A (n.332-59C>A)
n.716-59C>A
 dbSNP gnomAD v3 gnomAD v4
Xg.18584204C=CA2417967995CDKL5c.464-59C= (n.464-59C=)
c.332-59C= (n.332-59C=)
n.716-59C=
Xg.18584204C>TCA2579562814CDKL5c.464-59C>T (n.464-59C>T)
c.332-59C>T (n.332-59C>T)
n.716-59C>T
Xg.18584205C=CA2417967996CDKL5c.464-58C= (n.464-58C=)
c.332-58C= (n.332-58C=)
n.716-58C=
Xg.18584205C>GCA326984673CDKL5c.464-58C>G (n.464-58C>G)
c.332-58C>G (n.332-58C>G)
n.716-58C>G
 dbSNP gnomAD v4
Xg.18584206C>ACA2693221622CDKL5c.464-57C>A (n.464-57C>A)
c.332-57C>A (n.332-57C>A)
n.716-57C>A
 gnomAD v4
Xg.18584207A>GCA2693221623CDKL5c.464-56A>G (n.464-56A>G)
c.332-56A>G (n.332-56A>G)
n.716-56A>G
 gnomAD v4
Xg.18584208C>ACA2579562815CDKL5c.464-55C>A (n.464-55C>A)
c.332-55C>A (n.332-55C>A)
n.716-55C>A
 gnomAD v4
Xg.18584209A=CA2417967997CDKL5c.464-54A= (n.464-54A=)
c.332-54A= (n.332-54A=)
n.716-54A=
Xg.18584209A>GCA326984675CDKL5c.464-54A>G (n.464-54A>G)
c.332-54A>G (n.332-54A>G)
n.716-54A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584211G>TCA2693221624CDKL5c.464-52G>T (n.464-52G>T)
c.332-52G>T (n.332-52G>T)
n.716-52G>T
 gnomAD v4
Xg.18584219_18584221delCA2515575176CDKL5c.464-44_464-42del (n.464-44_464-42del)
c.332-44_332-42del (n.332-44_332-42del)
n.716-44_716-42del
Xg.18584214T>ACA2693221625CDKL5c.464-49T>A (n.464-49T>A)
c.332-49T>A (n.332-49T>A)
n.716-49T>A
 gnomAD v4
Xg.18584214T>GCA2693221626CDKL5c.464-49T>G (n.464-49T>G)
c.332-49T>G (n.332-49T>G)
n.716-49T>G
 gnomAD v4
Xg.18584216A>GCA915848008CDKL5c.464-47A>G (n.464-47A>G)
c.332-47A>G (n.332-47A>G)
n.716-47A>G
 gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584219A>TCA2693221627CDKL5c.464-44A>T (n.464-44A>T)
c.332-44A>T (n.332-44A>T)
n.716-44A>T
 gnomAD v4
Xg.18584219_18584223delinsATTTCCA2417967998CDKL5c.464-44_464-40delinsATTTC (n.464-44_464-40delinsATTTC)
c.332-44_332-40delinsATTTC (n.332-44_332-40delinsATTTC)
n.716-44_716-40delinsATTTC
Xg.18584223_18584226delCA199363CDKL5c.464-40_464-37del (n.464-40_464-37del)
c.332-40_332-37del (n.332-40_332-37del)
n.716-40_716-37del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584223C>ACA640510060CDKL5c.464-40C>A (n.464-40C>A)
c.332-40C>A (n.332-40C>A)
n.716-40C>A
 dbSNP gnomAD v2
Xg.18584223C=CA2417967999CDKL5c.464-40C= (n.464-40C=)
c.332-40C= (n.332-40C=)
n.716-40C=
Xg.18584224T>ACA2693221628CDKL5c.464-39T>A (n.464-39T>A)
c.332-39T>A (n.332-39T>A)
n.716-39T>A
 gnomAD v4
Xg.18584224T>CCA10360269CDKL5c.464-39T>C (n.464-39T>C)
c.332-39T>C (n.332-39T>C)
n.716-39T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584224T>GCA657740529CDKL5c.464-39T>G (n.464-39T>G)
c.332-39T>G (n.332-39T>G)
n.716-39T>G
 COSMIC
Xg.18584224T=CA2417968000CDKL5c.464-39T= (n.464-39T=)
c.332-39T= (n.332-39T=)
n.716-39T=
Xg.18584225T>CCA873656211CDKL5c.464-38T>C (n.464-38T>C)
c.332-38T>C (n.332-38T>C)
n.716-38T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.18584225T=CA2417968001CDKL5c.464-38T= (n.464-38T=)
c.332-38T= (n.332-38T=)
n.716-38T=
Xg.18584226T>GCA2579562816CDKL5c.464-37T>G (n.464-37T>G)
c.332-37T>G (n.332-37T>G)
n.716-37T>G
Xg.18584228T>CCA2579562817CDKL5c.464-35T>C (n.464-35T>C)
c.332-35T>C (n.332-35T>C)
n.716-35T>C
Xg.18584229C>ACA2693221629CDKL5c.464-34C>A (n.464-34C>A)
c.332-34C>A (n.332-34C>A)
n.716-34C>A
 gnomAD v4
Xg.18584229C=CA2417968002CDKL5c.464-34C= (n.464-34C=)
c.332-34C= (n.332-34C=)
n.716-34C=
Xg.18584229C>TCA640510061CDKL5c.464-34C>T (n.464-34C>T)
c.332-34C>T (n.332-34C>T)
n.716-34C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18584230A>GCA2693221630CDKL5c.464-33A>G (n.464-33A>G)
c.332-33A>G (n.332-33A>G)
n.716-33A>G
 gnomAD v4
Xg.18584233G>ACA2819901362CDKL5c.464-30G>A (n.464-30G>A)
c.332-30G>A (n.332-30G>A)
n.716-30G>A
Xg.18584234T>CCA2693221631CDKL5c.464-29T>C (n.464-29T>C)
c.332-29T>C (n.332-29T>C)
n.716-29T>C
 gnomAD v4
Xg.18584235delCA2541079056CDKL5c.464-28del (n.464-28del)
c.332-28del (n.332-28del)
n.716-28del
Xg.18584236A=CA2417968003CDKL5c.464-27A= (n.464-27A=)
c.332-27A= (n.332-27A=)
n.716-27A=
Xg.18584236A>GCA10360270CDKL5c.464-27A>G (n.464-27A>G)
c.332-27A>G (n.332-27A>G)
n.716-27A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18584236A>TCA2693221632CDKL5c.464-27A>T (n.464-27A>T)
c.332-27A>T (n.332-27A>T)
n.716-27A>T
 gnomAD v4
Xg.18584237C>ACA2693221633CDKL5c.464-26C>A (n.464-26C>A)
c.332-26C>A (n.332-26C>A)
n.716-26C>A
 gnomAD v4
Xg.18584237C>TCA2579562818CDKL5c.464-26C>T (n.464-26C>T)
c.332-26C>T (n.332-26C>T)
n.716-26C>T
 gnomAD v4
Xg.18584238A>TCA2693221634CDKL5c.464-25A>T (n.464-25A>T)
c.332-25A>T (n.332-25A>T)
n.716-25A>T
 gnomAD v4
Xg.18584239A>GCA657740545CDKL5c.464-24A>G (n.464-24A>G)
c.332-24A>G (n.332-24A>G)
n.716-24A>G
 gnomAD v4 COSMIC COSMIC
Xg.18584240C>ACA2693221635CDKL5c.464-23C>A (n.464-23C>A)
c.332-23C>A (n.332-23C>A)
n.716-23C>A
 gnomAD v4
Xg.18584241T>CCA2693221636CDKL5c.464-22T>C (n.464-22T>C)
c.332-22T>C (n.332-22T>C)
n.716-22T>C
 gnomAD v4
Xg.18584242T>CCA2693221637CDKL5c.464-21T>C (n.464-21T>C)
c.332-21T>C (n.332-21T>C)
n.716-21T>C
 gnomAD v4
Xg.18584243T>CCA2693221638CDKL5c.464-20T>C (n.464-20T>C)
c.332-20T>C (n.332-20T>C)
n.716-20T>C
 gnomAD v4
Xg.18584244G>ACA2579562819CDKL5c.464-19G>A (n.464-19G>A)
c.332-19G>A (n.332-19G>A)
n.716-19G>A
 gnomAD v4
Xg.18584244G>CCA2693221639CDKL5c.464-19G>C (n.464-19G>C)
c.332-19G>C (n.332-19G>C)
n.716-19G>C
 gnomAD v4
Xg.18584245delCA2819901363CDKL5c.464-18del (n.464-18del)
c.332-18del (n.332-18del)
n.716-18del
Xg.18584245G>ACA2693221640CDKL5c.464-18G>A (n.464-18G>A)
c.332-18G>A (n.332-18G>A)
n.716-18G>A
 gnomAD v4
Xg.18584245G=CA2417968004CDKL5c.464-18G= (n.464-18G=)
c.332-18G= (n.332-18G=)
n.716-18G=
Xg.18584245G>TCA2417968005CDKL5c.464-18G>T (n.464-18G>T)
c.332-18G>T (n.332-18G>T)
n.716-18G>T
 dbSNP
Xg.18584246A>GCA2693221641CDKL5c.464-17A>G (n.464-17A>G)
c.332-17A>G (n.332-17A>G)
n.716-17A>G
 gnomAD v4
Xg.18584247delCA2693221642CDKL5c.464-16del (n.464-16del)
c.332-16del (n.332-16del)
n.716-16del
 gnomAD v4
Xg.18584247C>ACA2693221643CDKL5c.464-16C>A (n.464-16C>A)
c.332-16C>A (n.332-16C>A)
n.716-16C>A
 gnomAD v4
Xg.18584247C>TCA2555893574CDKL5c.464-16C>T (n.464-16C>T)
c.332-16C>T (n.332-16C>T)
n.716-16C>T
 gnomAD v4
Xg.18584250delCA2579562820CDKL5c.464-13del (n.464-13del)
c.332-13del (n.332-13del)
n.716-13del
Xg.18584249T>CCA2693221644CDKL5c.464-14T>C (n.464-14T>C)
c.332-14T>C (n.332-14T>C)
n.716-14T>C
 gnomAD v4
Xg.18584250T>CCA326984686CDKL5c.464-13T>C (n.464-13T>C)
c.332-13T>C (n.332-13T>C)
n.716-13T>C
 dbSNP gnomAD v4
Xg.18584250T=CA2417968006CDKL5c.464-13T= (n.464-13T=)
c.332-13T= (n.332-13T=)
n.716-13T=
Xg.18584251G>ACA2693221645CDKL5c.464-12G>A (n.464-12G>A)
c.332-12G>A (n.332-12G>A)
n.716-12G>A
 gnomAD v4
Xg.18584252C>ACA2693221646CDKL5c.464-11C>A (n.464-11C>A)
c.332-11C>A (n.332-11C>A)
n.716-11C>A
 gnomAD v4
Xg.18584252C>TCA2693221647CDKL5c.464-11C>T (n.464-11C>T)
c.332-11C>T (n.332-11C>T)
n.716-11C>T
 gnomAD v4
Xg.18584254A=CA2417968007CDKL5c.464-9A= (n.464-9A=)
c.332-9A= (n.332-9A=)
n.716-9A=
Xg.18584254A>CCA2579562821CDKL5c.464-9A>C (n.464-9A>C)
c.332-9A>C (n.332-9A>C)
n.716-9A>C
 gnomAD v4
Xg.18584254A>GCA10360271CDKL5c.464-9A>G (n.464-9A>G)
c.332-9A>G (n.332-9A>G)
n.716-9A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584256C>ACA2693221648CDKL5c.464-7C>A (n.464-7C>A)
c.332-7C>A (n.332-7C>A)
n.716-7C>A
 gnomAD v4
Xg.18584257T>CCA2693221649CDKL5c.464-6T>C (n.464-6T>C)
c.332-6T>C (n.332-6T>C)
n.716-6T>C
 gnomAD v4
Xg.18584258T>CCA2693221650CDKL5c.464-5T>C (n.464-5T>C)
c.332-5T>C (n.332-5T>C)
n.716-5T>C
 gnomAD v4
Xg.18584258T>GCA2579562822CDKL5c.464-5T>G (n.464-5T>G)
c.332-5T>G (n.332-5T>G)
n.716-5T>G
Xg.18584259T>CCA2693221651CDKL5c.464-4T>C (n.464-4T>C)
c.332-4T>C (n.332-4T>C)
n.716-4T>C
 gnomAD v4
Xg.18584263_18584283delCA2740097958CDKL5c.464_484del
c.332_352del
n.716_736del
 ClinVar
Xg.18584260delCA2579562823CDKL5c.464-3del (n.464-3del)
c.332-3del (n.332-3del)
n.716-3del
Xg.18584260C>ACA2693221652CDKL5c.464-3C>A (n.464-3C>A)
c.332-3C>A (n.332-3C>A)
n.716-3C>A
 gnomAD v4
Xg.18584260C>GCA2580100394CDKL5c.464-3C>G (n.464-3C>G)
c.332-3C>G (n.332-3C>G)
n.716-3C>G
 ClinVar
Xg.18584261A=CA2417968008CDKL5c.464-2A= (n.464-2A=)
c.332-2A= (n.332-2A=)
n.716-2A=
Xg.18584261A>CCA412352081CDKL5c.464-2A>C (n.464-2A>C)
c.332-2A>C (n.332-2A>C)
n.716-2A>C
 ClinVar dbSNP
Xg.18584261A>GCA199406CDKL5c.464-2A>G (n.464-2A>G)
c.332-2A>G (n.332-2A>G)
n.716-2A>G
 ClinVar dbSNP gnomAD v4
Xg.18584261A>TCA412352086CDKL5c.464-2A>T (n.464-2A>T)
c.332-2A>T (n.332-2A>T)
n.716-2A>T
Xg.18584262G>ACA199405CDKL5c.464-1G>A (n.464-1G>A)
c.332-1G>A (n.332-1G>A)
n.716-1G>A
 ClinVar dbSNP gnomAD v4
Xg.18584262G>CCA412352089CDKL5c.464-1G>C (n.464-1G>C)
c.332-1G>C (n.332-1G>C)
n.716-1G>C
 ClinVar dbSNP
Xg.18584262G=CA2417968009CDKL5c.464-1G= (n.464-1G=)
c.332-1G= (n.332-1G=)
n.716-1G=
Xg.18584262G>TCA412352092CDKL5c.464-1G>T (n.464-1G>T)
c.332-1G>T (n.332-1G>T)
n.716-1G>T
 gnomAD v4
Xg.18584263G>ACA412352093CDKL5c.464G>A (p.Gly155Asp)
c.332G>A (p.Gly111Asp)
n.716G>A
Xg.18584263G>CCA412352094CDKL5c.464G>C (p.Gly155Ala)
c.332G>C (p.Gly111Ala)
n.716G>C
Xg.18584263G>TCA412352095CDKL5c.464G>T (p.Gly155Val)
c.332G>T (p.Gly111Val)
n.716G>T
Xg.18584264T>ACA515470165CDKL5c.465T>A (p.Gly155=)
c.333T>A (p.Gly111=)
n.717T>A
Xg.18584264T>CCA515470164CDKL5c.465T>C (p.Gly155=)
c.333T>C (p.Gly111=)
n.717T>C
Xg.18584264T>GCA515470163CDKL5c.465T>G (p.Gly155=)
c.333T>G (p.Gly111=)
n.717T>G
Xg.18584265T>ACA412352096CDKL5c.466T>A (p.Phe156Ile)
c.334T>A (p.Phe112Ile)
n.718T>A
Xg.18584265T>CCA412352098CDKL5c.466T>C (p.Phe156Leu)
c.334T>C (p.Phe112Leu)
n.718T>C
 gnomAD v4
Xg.18584265T>GCA412352100CDKL5c.466T>G (p.Phe156Val)
c.334T>G (p.Phe112Val)
n.718T>G
Xg.18584266T>ACA412352103CDKL5c.467T>A (p.Phe156Tyr)
c.335T>A (p.Phe112Tyr)
n.719T>A
Xg.18584266T>CCA412352106CDKL5c.467T>C (p.Phe156Ser)
c.335T>C (p.Phe112Ser)
n.719T>C
Xg.18584266T>GCA412352108CDKL5c.467T>G (p.Phe156Cys)
c.335T>G (p.Phe112Cys)
n.719T>G
Xg.18584267T>ACA412352111CDKL5c.468T>A (p.Phe156Leu)
c.336T>A (p.Phe112Leu)
n.720T>A
Xg.18584267T>CCA515470166CDKL5c.468T>C (p.Phe156=)
c.336T>C (p.Phe112=)
n.720T>C
Xg.18584267T>GCA412352113CDKL5c.468T>G (p.Phe156Leu)
c.336T>G (p.Phe112Leu)
n.720T>G
Xg.18584268G>ACA412352123CDKL5c.469G>A (p.Ala157Thr)
c.337G>A (p.Ala113Thr)
n.721G>A
 gnomAD v4
Xg.18584268G>CCA412352120CDKL5c.469G>C (p.Ala157Pro)
c.337G>C (p.Ala113Pro)
n.721G>C
 ClinVar dbSNP
Xg.18584268G>TCA412352117CDKL5c.469G>T (p.Ala157Ser)
c.337G>T (p.Ala113Ser)
n.721G>T
Xg.18584269C>ACA412352126CDKL5c.470C>A (p.Ala157Asp)
c.338C>A (p.Ala113Asp)
n.722C>A
 gnomAD v4
Xg.18584269C=CA2417968010CDKL5c.470C= (p.Ala157=)
c.338C= (p.Ala113=)
n.722C=
Xg.18584269C>GCA412352129CDKL5c.470C>G (p.Ala157Gly)
c.338C>G (p.Ala113Gly)
n.722C>G
Xg.18584269C>TCA279171CDKL5c.470C>T (p.Ala157Val)
c.338C>T (p.Ala113Val)
n.722C>T
 ClinVar dbSNP gnomAD v4
Xg.18584270T>ACA515470167CDKL5c.471T>A (p.Ala157=)
c.339T>A (p.Ala113=)
n.723T>A
Xg.18584270T>CCA515470168CDKL5c.471T>C (p.Ala157=)
c.339T>C (p.Ala113=)
n.723T>C
Xg.18584270T>GCA515470169CDKL5c.471T>G (p.Ala157=)
c.339T>G (p.Ala113=)
n.723T>G
Xg.18584271C>ACA412352132CDKL5c.472C>A (p.Arg158Ser)
c.340C>A (p.Arg114Ser)
n.724C>A
Xg.18584271C>GCA412352133CDKL5c.472C>G (p.Arg158Gly)
c.340C>G (p.Arg114Gly)
n.724C>G
Xg.18584271C>TCA412352135CDKL5c.472C>T (p.Arg158Cys)
c.340C>T (p.Arg114Cys)
n.724C>T
 gnomAD v4
Xg.18584272G>ACA10360272CDKL5c.473G>A (p.Arg158His)
c.341G>A (p.Arg114His)
n.725G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18584272G>CCA199368CDKL5c.473G>C (p.Arg158Pro)
c.341G>C (p.Arg114Pro)
n.725G>C
 ClinVar dbSNP COSMIC
Xg.18584272G=CA2417968011CDKL5c.473G= (p.Arg158=)
c.341G= (p.Arg114=)
n.725G=
Xg.18584272G>TCA412352141CDKL5c.473G>T (p.Arg158Leu)
c.341G>T (p.Arg114Leu)
n.725G>T
Xg.18584273T>ACA515470170CDKL5c.474T>A (p.Arg158=)
c.342T>A (p.Arg114=)
n.726T>A
Xg.18584273T>CCA515470171CDKL5c.474T>C (p.Arg158=)
c.342T>C (p.Arg114=)
n.726T>C
Xg.18584273T>GCA515470172CDKL5c.474T>G (p.Arg158=)
c.342T>G (p.Arg114=)
n.726T>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18584273T=CA2417968012CDKL5c.474T= (p.Arg158=)
c.342T= (p.Arg114=)
n.726T=
Xg.18584274A>CCA412352146CDKL5c.475A>C (p.Asn159His)
c.343A>C (p.Asn115His)
n.727A>C
Xg.18584274A>GCA412352148CDKL5c.475A>G (p.Asn159Asp)
c.343A>G (p.Asn115Asp)
n.727A>G
Xg.18584274A>TCA412352151CDKL5c.475A>T (p.Asn159Tyr)
c.343A>T (p.Asn115Tyr)
n.727A>T
Xg.18584275A>CCA412352157CDKL5c.476A>C (p.Asn159Thr)
c.344A>C (p.Asn115Thr)
n.728A>C
Xg.18584275A>GCA412352155CDKL5c.476A>G (p.Asn159Ser)
c.344A>G (p.Asn115Ser)
n.728A>G
Xg.18584275A>TCA412352153CDKL5c.476A>T (p.Asn159Ile)
c.344A>T (p.Asn115Ile)
n.728A>T
Xg.18584276T>ACA412352159CDKL5c.477T>A (p.Asn159Lys)
c.345T>A (p.Asn115Lys)
n.729T>A
Xg.18584276T>CCA10360273CDKL5c.477T>C (p.Asn159=)
c.345T>C (p.Asn115=)
n.729T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18584276T>GCA412352162CDKL5c.477T>G (p.Asn159Lys)
c.345T>G (p.Asn115Lys)
n.729T>G
Xg.18584276T=CA2417968013CDKL5c.477T= (p.Asn159=)
c.345T= (p.Asn115=)
n.729T=
Xg.18584277C>ACA412352166CDKL5c.478C>A (p.Leu160Met)
c.346C>A (p.Leu116Met)
n.730C>A
Xg.18584277C>GCA412352168CDKL5c.478C>G (p.Leu160Val)
c.346C>G (p.Leu116Val)
n.730C>G
Xg.18584277C>TCA515470173CDKL5c.478C>T (p.Leu160=)
c.346C>T (p.Leu116=)
n.730C>T
Xg.18584278T>ACA412352171CDKL5c.479T>A (p.Leu160Gln)
c.347T>A (p.Leu116Gln)
n.731T>A
Xg.18584278T>CCA412352172CDKL5c.479T>C (p.Leu160Pro)
c.347T>C (p.Leu116Pro)
n.731T>C
 gnomAD v4
Xg.18584278T>GCA412352175CDKL5c.479T>G (p.Leu160Arg)
c.347T>G (p.Leu116Arg)
n.731T>G
Xg.18584279G>ACA10360274CDKL5c.480G>A (p.Leu160=)
c.348G>A (p.Leu116=)
n.732G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584279G>CCA515470175CDKL5c.480G>C (p.Leu160=)
c.348G>C (p.Leu116=)
n.732G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18584279G=CA2417968014CDKL5c.480G= (p.Leu160=)
c.348G= (p.Leu116=)
n.732G=
Xg.18584279G>TCA515470174CDKL5c.480G>T (p.Leu160=)
c.348G>T (p.Leu116=)
n.732G>T
 ClinVar dbSNP
Xg.18584280T>ACA412352179CDKL5c.481T>A (p.Ser161Thr)
c.349T>A (p.Ser117Thr)
n.733T>A
Xg.18584280T>CCA412352182CDKL5c.481T>C (p.Ser161Pro)
c.349T>C (p.Ser117Pro)
n.733T>C
Xg.18584280T>GCA412352185CDKL5c.481T>G (p.Ser161Ala)
c.349T>G (p.Ser117Ala)
n.733T>G
Xg.18584281delCA2579562824CDKL5c.482del (p.Ser161Ter)
c.350del (p.Ser117Ter)
n.734del
Xg.18584281C>ACA412352193CDKL5c.482C>A (p.Ser161Ter)
c.350C>A (p.Ser117Ter)
n.734C>A
Xg.18584281C>GCA412352191CDKL5c.482C>G (p.Ser161Ter)
c.350C>G (p.Ser117Ter)
n.734C>G
Xg.18584281C>TCA412352188CDKL5c.482C>T (p.Ser161Leu)
c.350C>T (p.Ser117Leu)
n.734C>T
Xg.18584282A>CCA515470178CDKL5c.483A>C (p.Ser161=)
c.351A>C (p.Ser117=)
n.735A>C
Xg.18584282A>GCA515470177CDKL5c.483A>G (p.Ser161=)
c.351A>G (p.Ser117=)
n.735A>G
Xg.18584282A>TCA515470176CDKL5c.483A>T (p.Ser161=)
c.351A>T (p.Ser117=)
n.735A>T
Xg.18584283G>ACA412352196CDKL5c.484G>A (p.Glu162Lys)
c.352G>A (p.Glu118Lys)
n.736G>A
Xg.18584283G>CCA412352200CDKL5c.484G>C (p.Glu162Gln)
c.352G>C (p.Glu118Gln)
n.736G>C
Xg.18584283G>TCA412352202CDKL5c.484G>T (p.Glu162Ter)
c.352G>T (p.Glu118Ter)
n.736G>T
Xg.18584284A>CCA412352205CDKL5c.485A>C (p.Glu162Ala)
c.353A>C (p.Glu118Ala)
n.737A>C
Xg.18584284A>GCA412352208CDKL5c.485A>G (p.Glu162Gly)
c.353A>G (p.Glu118Gly)
n.737A>G
Xg.18584284A>TCA412352211CDKL5c.485A>T (p.Glu162Val)
c.353A>T (p.Glu118Val)
n.737A>T
Xg.18584285A=CA2417968015CDKL5c.486A= (p.Glu162=)
c.354A= (p.Glu118=)
n.738A=
Xg.18584285A>CCA10360275CDKL5c.486A>C (p.Glu162Asp)
c.354A>C (p.Glu118Asp)
n.738A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18584285A>GCA515470179CDKL5c.486A>G (p.Glu162=)
c.354A>G (p.Glu118=)
n.738A>G
Xg.18584285A>TCA412352214CDKL5c.486A>T (p.Glu162Asp)
c.354A>T (p.Glu118Asp)
n.738A>T
Xg.18584286G>ACA412352219CDKL5c.487G>A (p.Gly163Ser)
c.355G>A (p.Gly119Ser)
n.739G>A
Xg.18584286G>CCA412352221CDKL5c.487G>C (p.Gly163Arg)
c.355G>C (p.Gly119Arg)
n.739G>C
Xg.18584286G>TCA412352223CDKL5c.487G>T (p.Gly163Cys)
c.355G>T (p.Gly119Cys)
n.739G>T
Xg.18584287G>ACA412352227CDKL5c.488G>A (p.Gly163Asp)
c.356G>A (p.Gly119Asp)
n.740G>A
Xg.18584287G>CCA412352229CDKL5c.488G>C (p.Gly163Ala)
c.356G>C (p.Gly119Ala)
n.740G>C
Xg.18584287G>TCA412352232CDKL5c.488G>T (p.Gly163Val)
c.356G>T (p.Gly119Val)
n.740G>T
Xg.18584288C>ACA515470180CDKL5c.489C>A (p.Gly163=)
c.357C>A (p.Gly119=)
n.741C>A
Xg.18584288C>GCA515470181CDKL5c.489C>G (p.Gly163=)
c.357C>G (p.Gly119=)
n.741C>G
Xg.18584288C>TCA515470182CDKL5c.489C>T (p.Gly163=)
c.357C>T (p.Gly119=)
n.741C>T
Xg.18584289A>CCA412352242CDKL5c.490A>C (p.Asn164His)
c.358A>C (p.Asn120His)
n.742A>C
Xg.18584289A>GCA412352235CDKL5c.490A>G (p.Asn164Asp)
c.358A>G (p.Asn120Asp)
n.742A>G
 gnomAD v4
Xg.18584289A>TCA412352237CDKL5c.490A>T (p.Asn164Tyr)
c.358A>T (p.Asn120Tyr)
n.742A>T
Xg.18584290A>CCA412352245CDKL5c.491A>C (p.Asn164Thr)
c.359A>C (p.Asn120Thr)
n.743A>C
Xg.18584290A>GCA412352247CDKL5c.491A>G (p.Asn164Ser)
c.359A>G (p.Asn120Ser)
n.743A>G
 gnomAD v4
Xg.18584290A>TCA412352251CDKL5c.491A>T (p.Asn164Ile)
c.359A>T (p.Asn120Ile)
n.743A>T
Xg.18584291T>ACA412352253CDKL5c.492T>A (p.Asn164Lys)
c.360T>A (p.Asn120Lys)
n.744T>A
Xg.18584291T>CCA515470183CDKL5c.492T>C (p.Asn164=)
c.360T>C (p.Asn120=)
n.744T>C
Xg.18584291T>GCA412352256CDKL5c.492T>G (p.Asn164Lys)
c.360T>G (p.Asn120Lys)
n.744T>G
Xg.18584292A>CCA412352258CDKL5c.493A>C (p.Asn165His)
c.361A>C (p.Asn121His)
n.745A>C
Xg.18584292A>GCA412352262CDKL5c.493A>G (p.Asn165Asp)
c.361A>G (p.Asn121Asp)
n.745A>G
Xg.18584292A>TCA412352264CDKL5c.493A>T (p.Asn165Tyr)
c.361A>T (p.Asn121Tyr)
n.745A>T
Xg.18584293A=CA2417968016CDKL5c.494A= (p.Asn165=)
c.362A= (p.Asn121=)
n.746A=
Xg.18584293A>CCA412352268CDKL5c.494A>C (p.Asn165Thr)
c.362A>C (p.Asn121Thr)
n.746A>C
Xg.18584293A>GCA412352270CDKL5c.494A>G (p.Asn165Ser)
c.362A>G (p.Asn121Ser)
n.746A>G
Xg.18584293A>TCA412352273CDKL5c.494A>T (p.Asn165Ile)
c.362A>T (p.Asn121Ile)
n.746A>T
Xg.18584294T>ACA412352275CDKL5c.495T>A (p.Asn165Lys)
c.363T>A (p.Asn121Lys)
n.747T>A
Xg.18584294T>CCA515470184CDKL5c.495T>C (p.Asn165=)
c.363T>C (p.Asn121=)
n.747T>C
Xg.18584294T>GCA412352276CDKL5c.495T>G (p.Asn165Lys)
c.363T>G (p.Asn121Lys)
n.747T>G
Xg.18584294dupCA916083854CDKL5c.495dup (p.Ala166CysfsTer2)
c.363dup (p.Ala122CysfsTer2)
n.747dup
 ClinVar dbSNP
Xg.18584295G>ACA412352278CDKL5c.496G>A (p.Ala166Thr)
c.364G>A (p.Ala122Thr)
n.748G>A
 ClinVar dbSNP gnomAD v4
Xg.18584295G>CCA412352284CDKL5c.496G>C (p.Ala166Pro)
c.364G>C (p.Ala122Pro)
n.748G>C
Xg.18584295G>TCA412352281CDKL5c.496G>T (p.Ala166Ser)
c.364G>T (p.Ala122Ser)
n.748G>T
Xg.18584296C>ACA412352287CDKL5c.497C>A (p.Ala166Asp)
c.365C>A (p.Ala122Asp)
n.749C>A
 gnomAD v4
Xg.18584296C=CA2417968017CDKL5c.497C= (p.Ala166=)
c.365C= (p.Ala122=)
n.749C=
Xg.18584296C>GCA412352290CDKL5c.497C>G (p.Ala166Gly)
c.365C>G (p.Ala122Gly)
n.749C>G
 dbSNP gnomAD v4
Xg.18584296C>TCA412352293CDKL5c.497C>T (p.Ala166Val)
c.365C>T (p.Ala122Val)
n.749C>T
Xg.18584297T>ACA515470185CDKL5c.498T>A (p.Ala166=)
c.366T>A (p.Ala122=)
n.750T>A
Xg.18584297T>CCA515470186CDKL5c.498T>C (p.Ala166=)
c.366T>C (p.Ala122=)
n.750T>C
Xg.18584297T>GCA515470187CDKL5c.498T>G (p.Ala166=)
c.366T>G (p.Ala122=)
n.750T>G
Xg.18584298A>CCA412352297CDKL5c.499A>C (p.Asn167His)
c.367A>C (p.Asn123His)
n.751A>C
Xg.18584298A>GCA412352299CDKL5c.499A>G (p.Asn167Asp)
c.367A>G (p.Asn123Asp)
n.751A>G
Xg.18584298A>TCA412352300CDKL5c.499A>T (p.Asn167Tyr)
c.367A>T (p.Asn123Tyr)
n.751A>T
Xg.18584299delCA2579562825CDKL5c.500del (p.Asn167IlefsTer?)
c.368del (p.Asn123IlefsTer?)
n.752del
Xg.18584299A>CCA412352301CDKL5c.500A>C (p.Asn167Thr)
c.368A>C (p.Asn123Thr)
n.752A>C
Xg.18584299A>GCA412352302CDKL5c.500A>G (p.Asn167Ser)
c.368A>G (p.Asn123Ser)
n.752A>G
Xg.18584299A>TCA412352303CDKL5c.500A>T (p.Asn167Ile)
c.368A>T (p.Asn123Ile)
n.752A>T

Number of alleles fetched