Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604098T>ACA412359786CDKL5c.1174T>A (p.Ser392Thr)
c.1123T>A (p.Ser375Thr)
c.1042T>A (p.Ser348Thr)
n.1426T>A
Xg.18604098T>CCA412359788CDKL5c.1174T>C (p.Ser392Pro)
c.1123T>C (p.Ser375Pro)
c.1042T>C (p.Ser348Pro)
n.1426T>C
Xg.18604098T>GCA412359789CDKL5c.1174T>G (p.Ser392Ala)
c.1123T>G (p.Ser375Ala)
c.1042T>G (p.Ser348Ala)
n.1426T>G
Xg.18604099C>ACA412359792CDKL5c.1175C>A (p.Ser392Tyr)
c.1124C>A (p.Ser375Tyr)
c.1043C>A (p.Ser348Tyr)
n.1427C>A
Xg.18604099C>GCA412359794CDKL5c.1175C>G (p.Ser392Cys)
c.1124C>G (p.Ser375Cys)
c.1043C>G (p.Ser348Cys)
n.1427C>G
Xg.18604099C>TCA412359795CDKL5c.1175C>T (p.Ser392Phe)
c.1124C>T (p.Ser375Phe)
c.1043C>T (p.Ser348Phe)
n.1427C>T
Xg.18604100T>ACA515627588CDKL5c.1176T>A (p.Ser392=)
c.1125T>A (p.Ser375=)
c.1044T>A (p.Ser348=)
n.1428T>A
Xg.18604100T>CCA515627587CDKL5c.1176T>C (p.Ser392=)
c.1125T>C (p.Ser375=)
c.1044T>C (p.Ser348=)
n.1428T>C
Xg.18604100T>GCA515627589CDKL5c.1176T>G (p.Ser392=)
c.1125T>G (p.Ser375=)
c.1044T>G (p.Ser348=)
n.1428T>G
Xg.18604101A=CA2417973834CDKL5c.1177A= (p.Thr393=)
c.1126A= (p.Thr376=)
c.1045A= (p.Thr349=)
n.1429A=
Xg.18604101A>CCA412359797CDKL5c.1177A>C (p.Thr393Pro)
c.1126A>C (p.Thr376Pro)
c.1045A>C (p.Thr349Pro)
n.1429A>C
Xg.18604101A>GCA412359799CDKL5c.1177A>G (p.Thr393Ala)
c.1126A>G (p.Thr376Ala)
c.1045A>G (p.Thr349Ala)
n.1429A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604101A>TCA412359800CDKL5c.1177A>T (p.Thr393Ser)
c.1126A>T (p.Thr376Ser)
c.1045A>T (p.Thr349Ser)
n.1429A>T
Xg.18604102C>ACA412359803CDKL5c.1178C>A (p.Thr393Asn)
c.1127C>A (p.Thr376Asn)
c.1046C>A (p.Thr349Asn)
n.1430C>A
Xg.18604102C>GCA412359805CDKL5c.1178C>G (p.Thr393Ser)
c.1127C>G (p.Thr376Ser)
c.1046C>G (p.Thr349Ser)
n.1430C>G
 gnomAD v4
Xg.18604102C>TCA412359806CDKL5c.1178C>T (p.Thr393Ile)
c.1127C>T (p.Thr376Ile)
c.1046C>T (p.Thr349Ile)
n.1430C>T
Xg.18604103C>ACA515627590CDKL5c.1179C>A (p.Thr393=)
c.1128C>A (p.Thr376=)
c.1047C>A (p.Thr349=)
n.1431C>A
Xg.18604103C>GCA515627592CDKL5c.1179C>G (p.Thr393=)
c.1128C>G (p.Thr376=)
c.1047C>G (p.Thr349=)
n.1431C>G
Xg.18604103C>TCA515627593CDKL5c.1179C>T (p.Thr393=)
c.1128C>T (p.Thr376=)
c.1047C>T (p.Thr349=)
n.1431C>T
Xg.18604104A>CCA412359810CDKL5c.1180A>C (p.Ser394Arg)
c.1129A>C (p.Ser377Arg)
c.1048A>C (p.Ser350Arg)
n.1432A>C
Xg.18604104A>GCA412359812CDKL5c.1180A>G (p.Ser394Gly)
c.1129A>G (p.Ser377Gly)
c.1048A>G (p.Ser350Gly)
n.1432A>G
Xg.18604104A>TCA412359808CDKL5c.1180A>T (p.Ser394Cys)
c.1129A>T (p.Ser377Cys)
c.1048A>T (p.Ser350Cys)
n.1432A>T
Xg.18604104_18604105dupCA2740092027CDKL5c.1180_1181dup (p.Ser394ArgfsTer?)
c.1129_1130dup (p.Ser377ArgfsTer?)
c.1048_1049dup (p.Ser350ArgfsTer?)
n.1432_1433dup
 ClinVar
Xg.18604105G>ACA412359814CDKL5c.1181G>A (p.Ser394Asn)
c.1130G>A (p.Ser377Asn)
c.1049G>A (p.Ser350Asn)
n.1433G>A
Xg.18604105G>CCA412359816CDKL5c.1181G>C (p.Ser394Thr)
c.1130G>C (p.Ser377Thr)
c.1049G>C (p.Ser350Thr)
n.1433G>C
Xg.18604105G>TCA412359817CDKL5c.1181G>T (p.Ser394Ile)
c.1130G>T (p.Ser377Ile)
c.1049G>T (p.Ser350Ile)
n.1433G>T
Xg.18604106C>ACA412359820CDKL5c.1182C>A (p.Ser394Arg)
c.1131C>A (p.Ser377Arg)
c.1050C>A (p.Ser350Arg)
n.1434C>A
Xg.18604106C>GCA412359822CDKL5c.1182C>G (p.Ser394Arg)
c.1131C>G (p.Ser377Arg)
c.1050C>G (p.Ser350Arg)
n.1434C>G
Xg.18604106C>TCA515627595CDKL5c.1182C>T (p.Ser394=)
c.1131C>T (p.Ser377=)
c.1050C>T (p.Ser350=)
n.1434C>T
Xg.18604107A>CCA412359824CDKL5c.1183A>C (p.Lys395Gln)
c.1132A>C (p.Lys378Gln)
c.1051A>C (p.Lys351Gln)
n.1435A>C
Xg.18604107A>GCA412359826CDKL5c.1183A>G (p.Lys395Glu)
c.1132A>G (p.Lys378Glu)
c.1051A>G (p.Lys351Glu)
n.1435A>G
Xg.18604107A>TCA412359827CDKL5c.1183A>T (p.Lys395Ter)
c.1132A>T (p.Lys378Ter)
c.1051A>T (p.Lys351Ter)
n.1435A>T
Xg.18604108A>CCA412359830CDKL5c.1184A>C (p.Lys395Thr)
c.1133A>C (p.Lys378Thr)
c.1052A>C (p.Lys351Thr)
n.1436A>C
Xg.18604108A>GCA412359832CDKL5c.1184A>G (p.Lys395Arg)
c.1133A>G (p.Lys378Arg)
c.1052A>G (p.Lys351Arg)
n.1436A>G
Xg.18604108A>TCA412359833CDKL5c.1184A>T (p.Lys395Ile)
c.1133A>T (p.Lys378Ile)
c.1052A>T (p.Lys351Ile)
n.1436A>T
Xg.18604109A>CCA412359836CDKL5c.1185A>C (p.Lys395Asn)
c.1134A>C (p.Lys378Asn)
c.1053A>C (p.Lys351Asn)
n.1437A>C
Xg.18604109A>GCA515627597CDKL5c.1185A>G (p.Lys395=)
c.1134A>G (p.Lys378=)
c.1053A>G (p.Lys351=)
n.1437A>G
Xg.18604109A>TCA412359838CDKL5c.1185A>T (p.Lys395Asn)
c.1134A>T (p.Lys378Asn)
c.1053A>T (p.Lys351Asn)
n.1437A>T
Xg.18604110G>ACA412359843CDKL5c.1186G>A (p.Asp396Asn)
c.1135G>A (p.Asp379Asn)
c.1054G>A (p.Asp352Asn)
n.1438G>A
 gnomAD v4
Xg.18604110G>CCA412359842CDKL5c.1186G>C (p.Asp396His)
c.1135G>C (p.Asp379His)
c.1054G>C (p.Asp352His)
n.1438G>C
Xg.18604110G>TCA412359841CDKL5c.1186G>T (p.Asp396Tyr)
c.1135G>T (p.Asp379Tyr)
c.1054G>T (p.Asp352Tyr)
n.1438G>T
Xg.18604111A>CCA412359846CDKL5c.1187A>C (p.Asp396Ala)
c.1136A>C (p.Asp379Ala)
c.1055A>C (p.Asp352Ala)
n.1439A>C
Xg.18604111A>GCA412359848CDKL5c.1187A>G (p.Asp396Gly)
c.1136A>G (p.Asp379Gly)
c.1055A>G (p.Asp352Gly)
n.1439A>G
Xg.18604111A>TCA412359849CDKL5c.1187A>T (p.Asp396Val)
c.1136A>T (p.Asp379Val)
c.1055A>T (p.Asp352Val)
n.1439A>T
Xg.18604112T>ACA10360362CDKL5c.1188T>A (p.Asp396Glu)
c.1137T>A (p.Asp379Glu)
c.1056T>A (p.Asp352Glu)
n.1440T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604112T>CCA515627601CDKL5c.1188T>C (p.Asp396=)
c.1137T>C (p.Asp379=)
c.1056T>C (p.Asp352=)
n.1440T>C
Xg.18604112T>GCA412359851CDKL5c.1188T>G (p.Asp396Glu)
c.1137T>G (p.Asp379Glu)
c.1056T>G (p.Asp352Glu)
n.1440T>G
 dbSNP
Xg.18604112T=CA2417973837CDKL5c.1188T= (p.Asp396=)
c.1137T= (p.Asp379=)
c.1056T= (p.Asp352=)
n.1440T=
Xg.18604113C>ACA412359853CDKL5c.1189C>A (p.Leu397Ile)
c.1138C>A (p.Leu380Ile)
c.1057C>A (p.Leu353Ile)
n.1441C>A
Xg.18604113C=CA2417973839CDKL5c.1189C= (p.Leu397=)
c.1138C= (p.Leu380=)
c.1057C= (p.Leu353=)
n.1441C=
Xg.18604113C>GCA412359855CDKL5c.1189C>G (p.Leu397Val)
c.1138C>G (p.Leu380Val)
c.1057C>G (p.Leu353Val)
n.1441C>G
 dbSNP
Xg.18604113C>TCA412359857CDKL5c.1189C>T (p.Leu397Phe)
c.1138C>T (p.Leu380Phe)
c.1057C>T (p.Leu353Phe)
n.1441C>T
Xg.18604114T>ACA412359859CDKL5c.1190T>A (p.Leu397His)
c.1139T>A (p.Leu380His)
c.1058T>A (p.Leu353His)
n.1442T>A
Xg.18604114T>CCA412359861CDKL5c.1190T>C (p.Leu397Pro)
c.1139T>C (p.Leu380Pro)
c.1058T>C (p.Leu353Pro)
n.1442T>C
Xg.18604114T>GCA412359863CDKL5c.1190T>G (p.Leu397Arg)
c.1139T>G (p.Leu380Arg)
c.1058T>G (p.Leu353Arg)
n.1442T>G
Xg.18604115C>ACA515627604CDKL5c.1191C>A (p.Leu397=)
c.1140C>A (p.Leu380=)
c.1059C>A (p.Leu353=)
n.1443C>A
Xg.18604115C>GCA515627603CDKL5c.1191C>G (p.Leu397=)
c.1140C>G (p.Leu380=)
c.1059C>G (p.Leu353=)
n.1443C>G
Xg.18604115C>TCA515627602CDKL5c.1191C>T (p.Leu397=)
c.1140C>T (p.Leu380=)
c.1059C>T (p.Leu353=)
n.1443C>T
Xg.18604116A=CA2417973843CDKL5c.1192A= (p.Thr398=)
c.1141A= (p.Thr381=)
c.1060A= (p.Thr354=)
n.1444A=
Xg.18604116A>CCA412359865CDKL5c.1192A>C (p.Thr398Pro)
c.1141A>C (p.Thr381Pro)
c.1060A>C (p.Thr354Pro)
n.1444A>C
Xg.18604116A>GCA326987735CDKL5c.1192A>G (p.Thr398Ala)
c.1141A>G (p.Thr381Ala)
c.1060A>G (p.Thr354Ala)
n.1444A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604116A>TCA412359867CDKL5c.1192A>T (p.Thr398Ser)
c.1141A>T (p.Thr381Ser)
c.1060A>T (p.Thr354Ser)
n.1444A>T
Xg.18604117C>ACA412359871CDKL5c.1193C>A (p.Thr398Asn)
c.1142C>A (p.Thr381Asn)
c.1061C>A (p.Thr354Asn)
n.1445C>A
Xg.18604117C>GCA412359873CDKL5c.1193C>G (p.Thr398Ser)
c.1142C>G (p.Thr381Ser)
c.1061C>G (p.Thr354Ser)
n.1445C>G
Xg.18604117C>TCA412359870CDKL5c.1193C>T (p.Thr398Ile)
c.1142C>T (p.Thr381Ile)
c.1061C>T (p.Thr354Ile)
n.1445C>T
Xg.18604118C>ACA515627606CDKL5c.1194C>A (p.Thr398=)
c.1143C>A (p.Thr381=)
c.1062C>A (p.Thr354=)
n.1446C>A
Xg.18604118C>GCA515627607CDKL5c.1194C>G (p.Thr398=)
c.1143C>G (p.Thr381=)
c.1062C>G (p.Thr354=)
n.1446C>G
Xg.18604118C>TCA515627608CDKL5c.1194C>T (p.Thr398=)
c.1143C>T (p.Thr381=)
c.1062C>T (p.Thr354=)
n.1446C>T
Xg.18604126_18604128delCA2693222668CDKL5c.1202_1204del (p.Asn401del)
c.1151_1153del (p.Asn384del)
c.1070_1072del (p.Asn357del)
n.1454_1456del
 gnomAD v4
Xg.18604119A>CCA412359875CDKL5c.1195A>C (p.Asn399His)
c.1144A>C (p.Asn382His)
c.1063A>C (p.Asn355His)
n.1447A>C
Xg.18604119A>GCA412359877CDKL5c.1195A>G (p.Asn399Asp)
c.1144A>G (p.Asn382Asp)
c.1063A>G (p.Asn355Asp)
n.1447A>G
Xg.18604119A>TCA412359879CDKL5c.1195A>T (p.Asn399Tyr)
c.1144A>T (p.Asn382Tyr)
c.1063A>T (p.Asn355Tyr)
n.1447A>T
Xg.18604120A=CA2417973847CDKL5c.1196A= (p.Asn399=)
c.1145A= (p.Asn382=)
c.1064A= (p.Asn355=)
n.1448A=
Xg.18604120A>CCA170438CDKL5c.1196A>C (p.Asn399Thr)
c.1145A>C (p.Asn382Thr)
c.1064A>C (p.Asn355Thr)
n.1448A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604120A>GCA412359882CDKL5c.1196A>G (p.Asn399Ser)
c.1145A>G (p.Asn382Ser)
c.1064A>G (p.Asn355Ser)
n.1448A>G
 ClinVar dbSNP
Xg.18604120A>TCA412359884CDKL5c.1196A>T (p.Asn399Ile)
c.1145A>T (p.Asn382Ile)
c.1064A>T (p.Asn355Ile)
n.1448A>T
Xg.18604121C>ACA412359886CDKL5c.1197C>A (p.Asn399Lys)
c.1146C>A (p.Asn382Lys)
c.1065C>A (p.Asn355Lys)
n.1449C>A
Xg.18604121C=CA2417973850CDKL5c.1197C= (p.Asn399=)
c.1146C= (p.Asn382=)
c.1065C= (p.Asn355=)
n.1449C=
Xg.18604121C>GCA412359888CDKL5c.1197C>G (p.Asn399Lys)
c.1146C>G (p.Asn382Lys)
c.1065C>G (p.Asn355Lys)
n.1449C>G
Xg.18604121C>TCA515627612CDKL5c.1197C>T (p.Asn399=)
c.1146C>T (p.Asn382=)
c.1065C>T (p.Asn355=)
n.1449C>T
 dbSNP gnomAD v4
Xg.18604122A=CA2417973861CDKL5c.1198A= (p.Asn400=)
c.1147A= (p.Asn383=)
c.1066A= (p.Asn356=)
n.1450A=
Xg.18604122A>CCA326987740CDKL5c.1198A>C (p.Asn400His)
c.1147A>C (p.Asn383His)
c.1066A>C (p.Asn356His)
n.1450A>C
 ClinVar dbSNP gnomAD v4
Xg.18604122A>GCA412359890CDKL5c.1198A>G (p.Asn400Asp)
c.1147A>G (p.Asn383Asp)
c.1066A>G (p.Asn356Asp)
n.1450A>G
Xg.18604122A>TCA412359892CDKL5c.1198A>T (p.Asn400Tyr)
c.1147A>T (p.Asn383Tyr)
c.1066A>T (p.Asn356Tyr)
n.1450A>T
Xg.18604123A>CCA412359894CDKL5c.1199A>C (p.Asn400Thr)
c.1148A>C (p.Asn383Thr)
c.1067A>C (p.Asn356Thr)
n.1451A>C
Xg.18604123A>GCA412359896CDKL5c.1199A>G (p.Asn400Ser)
c.1148A>G (p.Asn383Ser)
c.1067A>G (p.Asn356Ser)
n.1451A>G
Xg.18604123A>TCA412359897CDKL5c.1199A>T (p.Asn400Ile)
c.1148A>T (p.Asn383Ile)
c.1067A>T (p.Asn356Ile)
n.1451A>T
Xg.18604124C>ACA412359900CDKL5c.1200C>A (p.Asn400Lys)
c.1149C>A (p.Asn383Lys)
c.1068C>A (p.Asn356Lys)
n.1452C>A
Xg.18604124C>GCA412359902CDKL5c.1200C>G (p.Asn400Lys)
c.1149C>G (p.Asn383Lys)
c.1068C>G (p.Asn356Lys)
n.1452C>G
Xg.18604124C>TCA515627616CDKL5c.1200C>T (p.Asn400=)
c.1149C>T (p.Asn383=)
c.1068C>T (p.Asn356=)
n.1452C>T
Xg.18604125A>CCA412359903CDKL5c.1201A>C (p.Asn401His)
c.1150A>C (p.Asn384His)
c.1069A>C (p.Asn357His)
n.1453A>C
Xg.18604125A>GCA412359905CDKL5c.1201A>G (p.Asn401Asp)
c.1150A>G (p.Asn384Asp)
c.1069A>G (p.Asn357Asp)
n.1453A>G
Xg.18604125A>TCA412359907CDKL5c.1201A>T (p.Asn401Tyr)
c.1150A>T (p.Asn384Tyr)
c.1069A>T (p.Asn357Tyr)
n.1453A>T
Xg.18604126A=CA2417973864CDKL5c.1202A= (p.Asn401=)
c.1151A= (p.Asn384=)
c.1070A= (p.Asn357=)
n.1454A=
Xg.18604126A>CCA412359909CDKL5c.1202A>C (p.Asn401Thr)
c.1151A>C (p.Asn384Thr)
c.1070A>C (p.Asn357Thr)
n.1454A>C
Xg.18604126A>GCA412359911CDKL5c.1202A>G (p.Asn401Ser)
c.1151A>G (p.Asn384Ser)
c.1070A>G (p.Asn357Ser)
n.1454A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18604126A>TCA412359913CDKL5c.1202A>T (p.Asn401Ile)
c.1151A>T (p.Asn384Ile)
c.1070A>T (p.Asn357Ile)
n.1454A>T
Xg.18604127C>ACA412359915CDKL5c.1203C>A (p.Asn401Lys)
c.1152C>A (p.Asn384Lys)
c.1071C>A (p.Asn357Lys)
n.1455C>A
Xg.18604127C>GCA412359916CDKL5c.1203C>G (p.Asn401Lys)
c.1152C>G (p.Asn384Lys)
c.1071C>G (p.Asn357Lys)
n.1455C>G
Xg.18604127C>TCA515627620CDKL5c.1203C>T (p.Asn401=)
c.1152C>T (p.Asn384=)
c.1071C>T (p.Asn357=)
n.1455C>T
 gnomAD v4
Xg.18604128A>CCA412359919CDKL5c.1204A>C (p.Ile402Leu)
c.1153A>C (p.Ile385Leu)
c.1072A>C (p.Ile358Leu)
n.1456A>C
Xg.18604128A>GCA412359921CDKL5c.1204A>G (p.Ile402Val)
c.1153A>G (p.Ile385Val)
c.1072A>G (p.Ile358Val)
n.1456A>G
Xg.18604128A>TCA412359922CDKL5c.1204A>T (p.Ile402Leu)
c.1153A>T (p.Ile385Leu)
c.1072A>T (p.Ile358Leu)
n.1456A>T
Xg.18604129T>ACA10360363CDKL5c.1205T>A (p.Ile402Lys)
c.1154T>A (p.Ile385Lys)
c.1073T>A (p.Ile358Lys)
n.1457T>A
 dbSNP ExAC
Xg.18604129T>CCA412359926CDKL5c.1205T>C (p.Ile402Thr)
c.1154T>C (p.Ile385Thr)
c.1073T>C (p.Ile358Thr)
n.1457T>C
Xg.18604129T>GCA412359925CDKL5c.1205T>G (p.Ile402Arg)
c.1154T>G (p.Ile385Arg)
c.1073T>G (p.Ile358Arg)
n.1457T>G
Xg.18604129T=CA2417973866CDKL5c.1205T= (p.Ile402=)
c.1154T= (p.Ile385=)
c.1073T= (p.Ile358=)
n.1457T=
Xg.18604130A>CCA515627622CDKL5c.1206A>C (p.Ile402=)
c.1155A>C (p.Ile385=)
c.1074A>C (p.Ile358=)
n.1458A>C
Xg.18604130A>GCA412359928CDKL5c.1206A>G (p.Ile402Met)
c.1155A>G (p.Ile385Met)
c.1074A>G (p.Ile358Met)
n.1458A>G
Xg.18604130A>TCA515627623CDKL5c.1206A>T (p.Ile402=)
c.1155A>T (p.Ile385=)
c.1074A>T (p.Ile358=)
n.1458A>T
Xg.18604131C>ACA412359934CDKL5c.1207C>A (p.Pro403Thr)
c.1156C>A (p.Pro386Thr)
c.1075C>A (p.Pro359Thr)
n.1459C>A
Xg.18604131C=CA2417973868CDKL5c.1207C= (p.Pro403=)
c.1156C= (p.Pro386=)
c.1075C= (p.Pro359=)
n.1459C=
Xg.18604131C>GCA412359931CDKL5c.1207C>G (p.Pro403Ala)
c.1156C>G (p.Pro386Ala)
c.1075C>G (p.Pro359Ala)
n.1459C>G
Xg.18604131C>TCA412359932CDKL5c.1207C>T (p.Pro403Ser)
c.1156C>T (p.Pro386Ser)
c.1075C>T (p.Pro359Ser)
n.1459C>T
Xg.18604132delCA2580100406CDKL5c.1208del (p.Pro403HisfsTer?)
c.1157del (p.Pro386HisfsTer?)
c.1076del (p.Pro359HisfsTer?)
n.1460del
 ClinVar
Xg.18604132C>ACA412359937CDKL5c.1208C>A (p.Pro403Gln)
c.1157C>A (p.Pro386Gln)
c.1076C>A (p.Pro359Gln)
n.1460C>A
Xg.18604132C>GCA412359938CDKL5c.1208C>G (p.Pro403Arg)
c.1157C>G (p.Pro386Arg)
c.1076C>G (p.Pro359Arg)
n.1460C>G
Xg.18604132C>TCA412359940CDKL5c.1208C>T (p.Pro403Leu)
c.1157C>T (p.Pro386Leu)
c.1076C>T (p.Pro359Leu)
n.1460C>T
Xg.18604135_18604136dupCA16621277CDKL5c.1211_1212dup (p.Leu405ThrfsTer?)
c.1160_1161dup (p.Leu388ThrfsTer?)
c.1079_1080dup (p.Leu361ThrfsTer?)
n.1463_1464dup
 ClinVar dbSNP
Xg.18604133A=CA2417973874CDKL5c.1209A= (p.Pro403=)
c.1158A= (p.Pro386=)
c.1077A= (p.Pro359=)
n.1461A=
Xg.18604133A>CCA515627625CDKL5c.1209A>C (p.Pro403=)
c.1158A>C (p.Pro386=)
c.1077A>C (p.Pro359=)
n.1461A>C
Xg.18604133A>GCA10360364CDKL5c.1209A>G (p.Pro403=)
c.1158A>G (p.Pro386=)
c.1077A>G (p.Pro359=)
n.1461A>G
 dbSNP ExAC
Xg.18604133A>TCA515627626CDKL5c.1209A>T (p.Pro403=)
c.1158A>T (p.Pro386=)
c.1077A>T (p.Pro359=)
n.1461A>T
Xg.18604134C>ACA412359945CDKL5c.1210C>A (p.His404Asn)
c.1159C>A (p.His387Asn)
c.1078C>A (p.His360Asn)
n.1462C>A
Xg.18604134C>GCA412359943CDKL5c.1210C>G (p.His404Asp)
c.1159C>G (p.His387Asp)
c.1078C>G (p.His360Asp)
n.1462C>G
Xg.18604134C>TCA412359942CDKL5c.1210C>T (p.His404Tyr)
c.1159C>T (p.His387Tyr)
c.1078C>T (p.His360Tyr)
n.1462C>T
Xg.18604135A>CCA412359947CDKL5c.1211A>C (p.His404Pro)
c.1160A>C (p.His387Pro)
c.1079A>C (p.His360Pro)
n.1463A>C
Xg.18604135A>GCA412359948CDKL5c.1211A>G (p.His404Arg)
c.1160A>G (p.His387Arg)
c.1079A>G (p.His360Arg)
n.1463A>G
Xg.18604135A>TCA412359950CDKL5c.1211A>T (p.His404Leu)
c.1160A>T (p.His387Leu)
c.1079A>T (p.His360Leu)
n.1463A>T
Xg.18604136C>ACA412359953CDKL5c.1212C>A (p.His404Gln)
c.1161C>A (p.His387Gln)
c.1080C>A (p.His360Gln)
n.1464C>A
Xg.18604136C>GCA412359954CDKL5c.1212C>G (p.His404Gln)
c.1161C>G (p.His387Gln)
c.1080C>G (p.His360Gln)
n.1464C>G
Xg.18604136C>TCA515627631CDKL5c.1212C>T (p.His404=)
c.1161C>T (p.His387=)
c.1080C>T (p.His360=)
n.1464C>T
 gnomAD v4
Xg.18604136_18604139delinsCCTTCA2417973880CDKL5c.1212_1215delinsCCTT (p.His404=)
c.1161_1164delinsCCTT (p.His387=)
c.1080_1083delinsCCTT (p.His360=)
n.1464_1467delinsCCTT
Xg.18604138_18604146delCA2819902067CDKL5c.1214_1222del (p.Leu405_Ser407del)
c.1163_1171del (p.Leu388_Ser390del)
c.1082_1090del (p.Leu361_Ser363del)
n.1466_1474del
Xg.18604137C>ACA412359963CDKL5c.1213C>A (p.Leu405Ile)
c.1162C>A (p.Leu388Ile)
c.1081C>A (p.Leu361Ile)
n.1465C>A
Xg.18604137C=CA2417973884CDKL5c.1213C= (p.Leu405=)
c.1162C= (p.Leu388=)
c.1081C= (p.Leu361=)
n.1465C=
Xg.18604137C>GCA412359962CDKL5c.1213C>G (p.Leu405Val)
c.1162C>G (p.Leu388Val)
c.1081C>G (p.Leu361Val)
n.1465C>G
 ClinVar dbSNP gnomAD v4
Xg.18604137C>TCA412359958CDKL5c.1213C>T (p.Leu405Phe)
c.1162C>T (p.Leu388Phe)
c.1081C>T (p.Leu361Phe)
n.1465C>T
Xg.18604140_18604142delCA10360365CDKL5c.1216_1218del (p.Leu406del)
c.1165_1167del (p.Leu389del)
c.1084_1086del (p.Leu362del)
n.1468_1470del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604138T>ACA412359965CDKL5c.1214T>A (p.Leu405His)
c.1163T>A (p.Leu388His)
c.1082T>A (p.Leu361His)
n.1466T>A
Xg.18604138T>CCA412359967CDKL5c.1214T>C (p.Leu405Pro)
c.1163T>C (p.Leu388Pro)
c.1082T>C (p.Leu361Pro)
n.1466T>C
Xg.18604138T>GCA412359968CDKL5c.1214T>G (p.Leu405Arg)
c.1163T>G (p.Leu388Arg)
c.1082T>G (p.Leu361Arg)
n.1466T>G
Xg.18604139T>ACA515627634CDKL5c.1215T>A (p.Leu405=)
c.1164T>A (p.Leu388=)
c.1083T>A (p.Leu361=)
n.1467T>A
Xg.18604139T>CCA515627635CDKL5c.1215T>C (p.Leu405=)
c.1164T>C (p.Leu388=)
c.1083T>C (p.Leu361=)
n.1467T>C
Xg.18604139T>GCA515627636CDKL5c.1215T>G (p.Leu405=)
c.1164T>G (p.Leu388=)
c.1083T>G (p.Leu361=)
n.1467T>G
Xg.18604140C>ACA412359970CDKL5c.1216C>A (p.Leu406Ile)
c.1165C>A (p.Leu389Ile)
c.1084C>A (p.Leu362Ile)
n.1468C>A
Xg.18604140C>GCA412359972CDKL5c.1216C>G (p.Leu406Val)
c.1165C>G (p.Leu389Val)
c.1084C>G (p.Leu362Val)
n.1468C>G
Xg.18604140C>TCA412359974CDKL5c.1216C>T (p.Leu406Phe)
c.1165C>T (p.Leu389Phe)
c.1084C>T (p.Leu362Phe)
n.1468C>T
 gnomAD v4
Xg.18604141T>ACA412359975CDKL5c.1217T>A (p.Leu406His)
c.1166T>A (p.Leu389His)
c.1085T>A (p.Leu362His)
n.1469T>A
Xg.18604141T>CCA412359976CDKL5c.1217T>C (p.Leu406Pro)
c.1166T>C (p.Leu389Pro)
c.1085T>C (p.Leu362Pro)
n.1469T>C
Xg.18604141T>GCA412359978CDKL5c.1217T>G (p.Leu406Arg)
c.1166T>G (p.Leu389Arg)
c.1085T>G (p.Leu362Arg)
n.1469T>G
Xg.18604142T>ACA515627638CDKL5c.1218T>A (p.Leu406=)
c.1167T>A (p.Leu389=)
c.1086T>A (p.Leu362=)
n.1470T>A
Xg.18604142T>CCA515627637CDKL5c.1218T>C (p.Leu406=)
c.1167T>C (p.Leu389=)
c.1086T>C (p.Leu362=)
n.1470T>C
Xg.18604142T>GCA515627640CDKL5c.1218T>G (p.Leu406=)
c.1167T>G (p.Leu389=)
c.1086T>G (p.Leu362=)
n.1470T>G
Xg.18604143A>CCA412359979CDKL5c.1219A>C (p.Ser407Arg)
c.1168A>C (p.Ser390Arg)
c.1087A>C (p.Ser363Arg)
n.1471A>C
Xg.18604143A>GCA412359980CDKL5c.1219A>G (p.Ser407Gly)
c.1168A>G (p.Ser390Gly)
c.1087A>G (p.Ser363Gly)
n.1471A>G
Xg.18604143A>TCA412359981CDKL5c.1219A>T (p.Ser407Cys)
c.1168A>T (p.Ser390Cys)
c.1087A>T (p.Ser363Cys)
n.1471A>T
Xg.18604144G>ACA412359984CDKL5c.1220G>A (p.Ser407Asn)
c.1169G>A (p.Ser390Asn)
c.1088G>A (p.Ser363Asn)
n.1472G>A
Xg.18604144G>CCA412359987CDKL5c.1220G>C (p.Ser407Thr)
c.1169G>C (p.Ser390Thr)
c.1088G>C (p.Ser363Thr)
n.1472G>C
Xg.18604144G>TCA412359986CDKL5c.1220G>T (p.Ser407Ile)
c.1169G>T (p.Ser390Ile)
c.1088G>T (p.Ser363Ile)
n.1472G>T
Xg.18604145C>ACA412359989CDKL5c.1221C>A (p.Ser407Arg)
c.1170C>A (p.Ser390Arg)
c.1089C>A (p.Ser363Arg)
n.1473C>A
Xg.18604145C>GCA412359991CDKL5c.1221C>G (p.Ser407Arg)
c.1170C>G (p.Ser390Arg)
c.1089C>G (p.Ser363Arg)
n.1473C>G
Xg.18604145C>TCA515627645CDKL5c.1221C>T (p.Ser407=)
c.1170C>T (p.Ser390=)
c.1089C>T (p.Ser363=)
n.1473C>T
Xg.18604146C>ACA412359993CDKL5c.1222C>A (p.Pro408Thr)
c.1171C>A (p.Pro391Thr)
c.1090C>A (p.Pro364Thr)
n.1474C>A
Xg.18604146C>GCA412359994CDKL5c.1222C>G (p.Pro408Ala)
c.1171C>G (p.Pro391Ala)
c.1090C>G (p.Pro364Ala)
n.1474C>G
Xg.18604146C>TCA412359997CDKL5c.1222C>T (p.Pro408Ser)
c.1171C>T (p.Pro391Ser)
c.1090C>T (p.Pro364Ser)
n.1474C>T
Xg.18604147C>ACA412359999CDKL5c.1223C>A (p.Pro408Gln)
c.1172C>A (p.Pro391Gln)
c.1091C>A (p.Pro364Gln)
n.1475C>A
Xg.18604147C>GCA412360000CDKL5c.1223C>G (p.Pro408Arg)
c.1172C>G (p.Pro391Arg)
c.1091C>G (p.Pro364Arg)
n.1475C>G
Xg.18604147C>TCA412360002CDKL5c.1223C>T (p.Pro408Leu)
c.1172C>T (p.Pro391Leu)
c.1091C>T (p.Pro364Leu)
n.1475C>T
Xg.18604148A>CCA515627650CDKL5c.1224A>C (p.Pro408=)
c.1173A>C (p.Pro391=)
c.1092A>C (p.Pro364=)
n.1476A>C
Xg.18604148A>GCA515627651CDKL5c.1224A>G (p.Pro408=)
c.1173A>G (p.Pro391=)
c.1092A>G (p.Pro364=)
n.1476A>G
Xg.18604148A>TCA515627653CDKL5c.1224A>T (p.Pro408=)
c.1173A>T (p.Pro391=)
c.1092A>T (p.Pro364=)
n.1476A>T
Xg.18604149A=CA2417973887CDKL5c.1225A= (p.Lys409=)
c.1174A= (p.Lys392=)
c.1093A= (p.Lys365=)
n.1477A=
Xg.18604149A>CCA412360005CDKL5c.1225A>C (p.Lys409Gln)
c.1174A>C (p.Lys392Gln)
c.1093A>C (p.Lys365Gln)
n.1477A>C
Xg.18604149A>GCA10360366CDKL5c.1225A>G (p.Lys409Glu)
c.1174A>G (p.Lys392Glu)
c.1093A>G (p.Lys365Glu)
n.1477A>G
 dbSNP ExAC gnomAD v2
Xg.18604149A>TCA412360007CDKL5c.1225A>T (p.Lys409Ter)
c.1174A>T (p.Lys392Ter)
c.1093A>T (p.Lys365Ter)
n.1477A>T
Xg.18604150A>CCA412360009CDKL5c.1226A>C (p.Lys409Thr)
c.1175A>C (p.Lys392Thr)
c.1094A>C (p.Lys365Thr)
n.1478A>C
Xg.18604150A>GCA412360010CDKL5c.1226A>G (p.Lys409Arg)
c.1175A>G (p.Lys392Arg)
c.1094A>G (p.Lys365Arg)
n.1478A>G
Xg.18604150A>TCA412360012CDKL5c.1226A>T (p.Lys409Ile)
c.1175A>T (p.Lys392Ile)
c.1094A>T (p.Lys365Ile)
n.1478A>T
Xg.18604151A>CCA412360014CDKL5c.1227A>C (p.Lys409Asn)
c.1176A>C (p.Lys392Asn)
c.1095A>C (p.Lys365Asn)
n.1479A>C
Xg.18604151A>GCA515627657CDKL5c.1227A>G (p.Lys409=)
c.1176A>G (p.Lys392=)
c.1095A>G (p.Lys365=)
n.1479A>G
Xg.18604151A>TCA412360016CDKL5c.1227A>T (p.Lys409Asn)
c.1176A>T (p.Lys392Asn)
c.1095A>T (p.Lys365Asn)
n.1479A>T
Xg.18604152G>ACA412360018CDKL5c.1228G>A (p.Glu410Lys)
c.1177G>A (p.Glu393Lys)
c.1096G>A (p.Glu366Lys)
n.1480G>A
Xg.18604152G>CCA412360020CDKL5c.1228G>C (p.Glu410Gln)
c.1177G>C (p.Glu393Gln)
c.1096G>C (p.Glu366Gln)
n.1480G>C
Xg.18604152G>TCA412360022CDKL5c.1228G>T (p.Glu410Ter)
c.1177G>T (p.Glu393Ter)
c.1096G>T (p.Glu366Ter)
n.1480G>T
Xg.18604153A>CCA412360024CDKL5c.1229A>C (p.Glu410Ala)
c.1178A>C (p.Glu393Ala)
c.1097A>C (p.Glu366Ala)
n.1481A>C
Xg.18604153A>GCA412360026CDKL5c.1229A>G (p.Glu410Gly)
c.1178A>G (p.Glu393Gly)
c.1097A>G (p.Glu366Gly)
n.1481A>G
Xg.18604153A>TCA412360028CDKL5c.1229A>T (p.Glu410Val)
c.1178A>T (p.Glu393Val)
c.1097A>T (p.Glu366Val)
n.1481A>T
Xg.18604154A=CA2417973890CDKL5c.1230A= (p.Glu410=)
c.1179A= (p.Glu393=)
c.1098A= (p.Glu366=)
n.1482A=
Xg.18604154A>CCA10360367CDKL5c.1230A>C (p.Glu410Asp)
c.1179A>C (p.Glu393Asp)
c.1098A>C (p.Glu366Asp)
n.1482A>C
 ClinVar dbSNP ExAC gnomAD v2
Xg.18604154A>GCA515627663CDKL5c.1230A>G (p.Glu410=)
c.1179A>G (p.Glu393=)
c.1098A>G (p.Glu366=)
n.1482A>G
Xg.18604154A>TCA412360031CDKL5c.1230A>T (p.Glu410Asp)
c.1179A>T (p.Glu393Asp)
c.1098A>T (p.Glu366Asp)
n.1482A>T
 ClinVar
Xg.18604155G>ACA412360033CDKL5c.1231G>A (p.Ala411Thr)
c.1180G>A (p.Ala394Thr)
c.1099G>A (p.Ala367Thr)
n.1483G>A
Xg.18604155G>CCA412360035CDKL5c.1231G>C (p.Ala411Pro)
c.1180G>C (p.Ala394Pro)
c.1099G>C (p.Ala367Pro)
n.1483G>C
Xg.18604155G>TCA412360037CDKL5c.1231G>T (p.Ala411Ser)
c.1180G>T (p.Ala394Ser)
c.1099G>T (p.Ala367Ser)
n.1483G>T
Xg.18604156C>ACA412360039CDKL5c.1232C>A (p.Ala411Asp)
c.1181C>A (p.Ala394Asp)
c.1100C>A (p.Ala367Asp)
n.1484C>A
Xg.18604156C>GCA412360043CDKL5c.1232C>G (p.Ala411Gly)
c.1181C>G (p.Ala394Gly)
c.1100C>G (p.Ala367Gly)
n.1484C>G
 gnomAD v4
Xg.18604156C>TCA412360041CDKL5c.1232C>T (p.Ala411Val)
c.1181C>T (p.Ala394Val)
c.1100C>T (p.Ala367Val)
n.1484C>T
Xg.18604157C>ACA515627664CDKL5c.1233C>A (p.Ala411=)
c.1182C>A (p.Ala394=)
c.1101C>A (p.Ala367=)
n.1485C>A
Xg.18604157C=CA2417973894CDKL5c.1233C= (p.Ala411=)
c.1182C= (p.Ala394=)
c.1101C= (p.Ala367=)
n.1485C=
Xg.18604157C>GCA515627667CDKL5c.1233C>G (p.Ala411=)
c.1182C>G (p.Ala394=)
c.1101C>G (p.Ala367=)
n.1485C>G
 gnomAD v4
Xg.18604157C>TCA326987748CDKL5c.1233C>T (p.Ala411=)
c.1182C>T (p.Ala394=)
c.1101C>T (p.Ala367=)
n.1485C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604158A=CA2417973898CDKL5c.1234A= (p.Lys412=)
c.1183A= (p.Lys395=)
c.1102A= (p.Lys368=)
n.1486A=
Xg.18604158A>CCA412360045CDKL5c.1234A>C (p.Lys412Gln)
c.1183A>C (p.Lys395Gln)
c.1102A>C (p.Lys368Gln)
n.1486A>C
Xg.18604158A>GCA10360368CDKL5c.1234A>G (p.Lys412Glu)
c.1183A>G (p.Lys395Glu)
c.1102A>G (p.Lys368Glu)
n.1486A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604158A>TCA412360047CDKL5c.1234A>T (p.Lys412Ter)
c.1183A>T (p.Lys395Ter)
c.1102A>T (p.Lys368Ter)
n.1486A>T
Xg.18604159A>CCA412360050CDKL5c.1235A>C (p.Lys412Thr)
c.1184A>C (p.Lys395Thr)
c.1103A>C (p.Lys368Thr)
n.1487A>C
Xg.18604159A>GCA412360051CDKL5c.1235A>G (p.Lys412Arg)
c.1184A>G (p.Lys395Arg)
c.1103A>G (p.Lys368Arg)
n.1487A>G
Xg.18604159A>TCA412360053CDKL5c.1235A>T (p.Lys412Met)
c.1184A>T (p.Lys395Met)
c.1103A>T (p.Lys368Met)
n.1487A>T
Xg.18604160G>ACA515627669CDKL5c.1236G>A (p.Lys412=)
c.1185G>A (p.Lys395=)
c.1104G>A (p.Lys368=)
n.1488G>A
Xg.18604160G>CCA412360055CDKL5c.1236G>C (p.Lys412Asn)
c.1185G>C (p.Lys395Asn)
c.1104G>C (p.Lys368Asn)
n.1488G>C
Xg.18604160G>TCA412360056CDKL5c.1236G>T (p.Lys412Asn)
c.1185G>T (p.Lys395Asn)
c.1104G>T (p.Lys368Asn)
n.1488G>T
Xg.18604161T>ACA412360059CDKL5c.1237T>A (p.Ser413Thr)
c.1186T>A (p.Ser396Thr)
c.1105T>A (p.Ser369Thr)
n.1489T>A
Xg.18604161T>CCA412360061CDKL5c.1237T>C (p.Ser413Pro)
c.1186T>C (p.Ser396Pro)
c.1105T>C (p.Ser369Pro)
n.1489T>C
Xg.18604161T>GCA412360062CDKL5c.1237T>G (p.Ser413Ala)
c.1186T>G (p.Ser396Ala)
c.1105T>G (p.Ser369Ala)
n.1489T>G
Xg.18604162C>ACA412360063CDKL5c.1238C>A (p.Ser413Ter)
c.1187C>A (p.Ser396Ter)
c.1106C>A (p.Ser369Ter)
n.1490C>A
 ClinVar dbSNP
Xg.18604162C=CA2417973910CDKL5c.1238C= (p.Ser413=)
c.1187C= (p.Ser396=)
c.1106C= (p.Ser369=)
n.1490C=
Xg.18604162C>GCA170440CDKL5c.1238C>G (p.Ser413Ter)
c.1187C>G (p.Ser396Ter)
c.1106C>G (p.Ser369Ter)
n.1490C>G
 ClinVar dbSNP
Xg.18604162C>TCA412360066CDKL5c.1238C>T (p.Ser413Leu)
c.1187C>T (p.Ser396Leu)
c.1106C>T (p.Ser369Leu)
n.1490C>T
Xg.18604163A>CCA515627672CDKL5c.1239A>C (p.Ser413=)
c.1188A>C (p.Ser396=)
c.1107A>C (p.Ser369=)
n.1491A>C
Xg.18604163A>GCA515627673CDKL5c.1239A>G (p.Ser413=)
c.1188A>G (p.Ser396=)
c.1107A>G (p.Ser369=)
n.1491A>G
Xg.18604163A>TCA515627675CDKL5c.1239A>T (p.Ser413=)
c.1188A>T (p.Ser396=)
c.1107A>T (p.Ser369=)
n.1491A>T
Xg.18604167dupCA2580100409CDKL5c.1243dup (p.Thr415AsnfsTer4)
c.1192dup (p.Thr398AsnfsTer4)
c.1111dup (p.Thr371AsnfsTer4)
n.1495dup
 ClinVar
Xg.18604164A>CCA412360071CDKL5c.1240A>C (p.Lys414Gln)
c.1189A>C (p.Lys397Gln)
c.1108A>C (p.Lys370Gln)
n.1492A>C
Xg.18604164A>GCA412360068CDKL5c.1240A>G (p.Lys414Glu)
c.1189A>G (p.Lys397Glu)
c.1108A>G (p.Lys370Glu)
n.1492A>G
Xg.18604164A>TCA412360067CDKL5c.1240A>T (p.Lys414Ter)
c.1189A>T (p.Lys397Ter)
c.1108A>T (p.Lys370Ter)
n.1492A>T
Xg.18604165A>CCA412360072CDKL5c.1241A>C (p.Lys414Thr)
c.1190A>C (p.Lys397Thr)
c.1109A>C (p.Lys370Thr)
n.1493A>C
Xg.18604165A>GCA412360074CDKL5c.1241A>G (p.Lys414Arg)
c.1190A>G (p.Lys397Arg)
c.1109A>G (p.Lys370Arg)
n.1493A>G
Xg.18604165A>TCA412360076CDKL5c.1241A>T (p.Lys414Ile)
c.1190A>T (p.Lys397Ile)
c.1109A>T (p.Lys370Ile)
n.1493A>T
Xg.18604166A=CA2417973917CDKL5c.1242A= (p.Lys414=)
c.1191A= (p.Lys397=)
c.1110A= (p.Lys370=)
n.1494A=
Xg.18604166A>CCA412360077CDKL5c.1242A>C (p.Lys414Asn)
c.1191A>C (p.Lys397Asn)
c.1110A>C (p.Lys370Asn)
n.1494A>C
Xg.18604166A>GCA515627678CDKL5c.1242A>G (p.Lys414=)
c.1191A>G (p.Lys397=)
c.1110A>G (p.Lys370=)
n.1494A>G
 ClinVar dbSNP
Xg.18604166A>TCA412360078CDKL5c.1242A>T (p.Lys414Asn)
c.1191A>T (p.Lys397Asn)
c.1110A>T (p.Lys370Asn)
n.1494A>T
Xg.18604167A=CA2417973921CDKL5c.1243A= (p.Thr415=)
c.1192A= (p.Thr398=)
c.1111A= (p.Thr371=)
n.1495A=
Xg.18604167A>CCA412360079CDKL5c.1243A>C (p.Thr415Pro)
c.1192A>C (p.Thr398Pro)
c.1111A>C (p.Thr371Pro)
n.1495A>C
Xg.18604167A>GCA10360369CDKL5c.1243A>G (p.Thr415Ala)
c.1192A>G (p.Thr398Ala)
c.1111A>G (p.Thr371Ala)
n.1495A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604167A>TCA412360083CDKL5c.1243A>T (p.Thr415Ser)
c.1192A>T (p.Thr398Ser)
c.1111A>T (p.Thr371Ser)
n.1495A>T
Xg.18604168_18604169delCA2695231307CDKL5c.1244_1245del (p.Thr415ArgfsTer3)
c.1193_1194del (p.Thr398ArgfsTer3)
c.1112_1113del (p.Thr371ArgfsTer3)
n.1496_1497del
Xg.18604168C>ACA412360084CDKL5c.1244C>A (p.Thr415Lys)
c.1193C>A (p.Thr398Lys)
c.1112C>A (p.Thr371Lys)
n.1496C>A
Xg.18604168C>GCA412360086CDKL5c.1244C>G (p.Thr415Arg)
c.1193C>G (p.Thr398Arg)
c.1112C>G (p.Thr371Arg)
n.1496C>G
Xg.18604168C>TCA412360089CDKL5c.1244C>T (p.Thr415Ile)
c.1193C>T (p.Thr398Ile)
c.1112C>T (p.Thr371Ile)
n.1496C>T
Xg.18604168_18604170delinsCAGCA2417973924CDKL5c.1244_1246delinsCAG (p.Thr415=)
c.1193_1195delinsCAG (p.Thr398=)
c.1112_1114delinsCAG (p.Thr371=)
n.1496_1498delinsCAG
Xg.18604169A>CCA515627685CDKL5c.1245A>C (p.Thr415=)
c.1194A>C (p.Thr398=)
c.1113A>C (p.Thr371=)
n.1497A>C
Xg.18604169A>GCA515627686CDKL5c.1245A>G (p.Thr415=)
c.1194A>G (p.Thr398=)
c.1113A>G (p.Thr371=)
n.1497A>G
 gnomAD v4
Xg.18604169A>TCA515627687CDKL5c.1245A>T (p.Thr415=)
c.1194A>T (p.Thr398=)
c.1113A>T (p.Thr371=)
n.1497A>T
Xg.18604171_18604172delCA235608CDKL5c.1247_1248del (p.Glu416ValfsTer2)
c.1196_1197del (p.Glu399ValfsTer2)
c.1115_1116del (p.Glu372ValfsTer2)
n.1499_1500del
 ClinVar dbSNP
Xg.18604170G>ACA412360096CDKL5c.1246G>A (p.Glu416Lys)
c.1195G>A (p.Glu399Lys)
c.1114G>A (p.Glu372Lys)
n.1498G>A
Xg.18604170G>CCA412360091CDKL5c.1246G>C (p.Glu416Gln)
c.1195G>C (p.Glu399Gln)
c.1114G>C (p.Glu372Gln)
n.1498G>C
Xg.18604170G=CA2417973930CDKL5c.1246G= (p.Glu416=)
c.1195G= (p.Glu399=)
c.1114G= (p.Glu372=)
n.1498G=
Xg.18604170G>TCA412360098CDKL5c.1246G>T (p.Glu416Ter)
c.1195G>T (p.Glu399Ter)
c.1114G>T (p.Glu372Ter)
n.1498G>T
 ClinVar dbSNP
Xg.18604171A>CCA412360100CDKL5c.1247A>C (p.Glu416Ala)
c.1196A>C (p.Glu399Ala)
c.1115A>C (p.Glu372Ala)
n.1499A>C
Xg.18604171A>GCA412360104CDKL5c.1247A>G (p.Glu416Gly)
c.1196A>G (p.Glu399Gly)
c.1115A>G (p.Glu372Gly)
n.1499A>G
Xg.18604171A>TCA412360106CDKL5c.1247A>T (p.Glu416Val)
c.1196A>T (p.Glu399Val)
c.1115A>T (p.Glu372Val)
n.1499A>T
Xg.18604172G>ACA515627694CDKL5c.1248G>A (p.Glu416=)
c.1197G>A (p.Glu399=)
c.1116G>A (p.Glu372=)
n.1500G>A
 gnomAD v4
Xg.18604172G>CCA412360108CDKL5c.1248G>C (p.Glu416Asp)
c.1197G>C (p.Glu399Asp)
c.1116G>C (p.Glu372Asp)
n.1500G>C
Xg.18604172G>TCA412360109CDKL5c.1248G>T (p.Glu416Asp)
c.1197G>T (p.Glu399Asp)
c.1116G>T (p.Glu372Asp)
n.1500G>T
Xg.18604173T>ACA412360113CDKL5c.1249T>A (p.Phe417Ile)
c.1198T>A (p.Phe400Ile)
c.1117T>A (p.Phe373Ile)
n.1501T>A
Xg.18604173T>CCA412360111CDKL5c.1249T>C (p.Phe417Leu)
c.1198T>C (p.Phe400Leu)
c.1117T>C (p.Phe373Leu)
n.1501T>C
Xg.18604173T>GCA412360112CDKL5c.1249T>G (p.Phe417Val)
c.1198T>G (p.Phe400Val)
c.1117T>G (p.Phe373Val)
n.1501T>G
Xg.18604174T>ACA412360115CDKL5c.1250T>A (p.Phe417Tyr)
c.1199T>A (p.Phe400Tyr)
c.1118T>A (p.Phe373Tyr)
n.1502T>A
Xg.18604174T>CCA412360117CDKL5c.1250T>C (p.Phe417Ser)
c.1199T>C (p.Phe400Ser)
c.1118T>C (p.Phe373Ser)
n.1502T>C
Xg.18604174T>GCA412360119CDKL5c.1250T>G (p.Phe417Cys)
c.1199T>G (p.Phe400Cys)
c.1118T>G (p.Phe373Cys)
n.1502T>G
Xg.18604175T>ACA412360121CDKL5c.1251T>A (p.Phe417Leu)
c.1200T>A (p.Phe400Leu)
c.1119T>A (p.Phe373Leu)
n.1503T>A
Xg.18604175T>CCA515627696CDKL5c.1251T>C (p.Phe417=)
c.1200T>C (p.Phe400=)
c.1119T>C (p.Phe373=)
n.1503T>C
Xg.18604175T>GCA412360123CDKL5c.1251T>G (p.Phe417Leu)
c.1200T>G (p.Phe400Leu)
c.1119T>G (p.Phe373Leu)
n.1503T>G
Xg.18604176G>ACA412360126CDKL5c.1252G>A (p.Asp418Asn)
c.1201G>A (p.Asp401Asn)
c.1120G>A (p.Asp374Asn)
n.1504G>A
Xg.18604176G>CCA412360129CDKL5c.1252G>C (p.Asp418His)
c.1201G>C (p.Asp401His)
c.1120G>C (p.Asp374His)
n.1504G>C
Xg.18604176G>TCA412360127CDKL5c.1252G>T (p.Asp418Tyr)
c.1201G>T (p.Asp401Tyr)
c.1120G>T (p.Asp374Tyr)
n.1504G>T
Xg.18604177A>CCA412360131CDKL5c.1253A>C (p.Asp418Ala)
c.1202A>C (p.Asp401Ala)
c.1121A>C (p.Asp374Ala)
n.1505A>C
Xg.18604177A>GCA412360132CDKL5c.1253A>G (p.Asp418Gly)
c.1202A>G (p.Asp401Gly)
c.1121A>G (p.Asp374Gly)
n.1505A>G
Xg.18604177A>TCA412360134CDKL5c.1253A>T (p.Asp418Val)
c.1202A>T (p.Asp401Val)
c.1121A>T (p.Asp374Val)
n.1505A>T
Xg.18604178T>ACA412360136CDKL5c.1254T>A (p.Asp418Glu)
c.1203T>A (p.Asp401Glu)
c.1122T>A (p.Asp374Glu)
n.1506T>A
Xg.18604178T>CCA515627700CDKL5c.1254T>C (p.Asp418=)
c.1203T>C (p.Asp401=)
c.1122T>C (p.Asp374=)
n.1506T>C
Xg.18604178T>GCA412360138CDKL5c.1254T>G (p.Asp418Glu)
c.1203T>G (p.Asp401Glu)
c.1122T>G (p.Asp374Glu)
n.1506T>G
Xg.18604179T>ACA412360141CDKL5c.1255T>A (p.Phe419Ile)
c.1204T>A (p.Phe402Ile)
c.1123T>A (p.Phe375Ile)
n.1507T>A
Xg.18604179T>CCA412360143CDKL5c.1255T>C (p.Phe419Leu)
c.1204T>C (p.Phe402Leu)
c.1123T>C (p.Phe375Leu)
n.1507T>C
 dbSNP gnomAD v2
Xg.18604179T>GCA412360145CDKL5c.1255T>G (p.Phe419Val)
c.1204T>G (p.Phe402Val)
c.1123T>G (p.Phe375Val)
n.1507T>G
Xg.18604179T=CA2417973935CDKL5c.1255T= (p.Phe419=)
c.1204T= (p.Phe402=)
c.1123T= (p.Phe375=)
n.1507T=
Xg.18604180T>ACA412360147CDKL5c.1256T>A (p.Phe419Tyr)
c.1205T>A (p.Phe402Tyr)
c.1124T>A (p.Phe375Tyr)
n.1508T>A
Xg.18604180T>CCA412360148CDKL5c.1256T>C (p.Phe419Ser)
c.1205T>C (p.Phe402Ser)
c.1124T>C (p.Phe375Ser)
n.1508T>C
Xg.18604180T>GCA412360150CDKL5c.1256T>G (p.Phe419Cys)
c.1205T>G (p.Phe402Cys)
c.1124T>G (p.Phe375Cys)
n.1508T>G
Xg.18604181T>ACA412360155CDKL5c.1257T>A (p.Phe419Leu)
c.1206T>A (p.Phe402Leu)
c.1125T>A (p.Phe375Leu)
n.1509T>A
Xg.18604181T>CCA515627705CDKL5c.1257T>C (p.Phe419=)
c.1206T>C (p.Phe402=)
c.1125T>C (p.Phe375=)
n.1509T>C
Xg.18604181T>GCA412360153CDKL5c.1257T>G (p.Phe419Leu)
c.1206T>G (p.Phe402Leu)
c.1125T>G (p.Phe375Leu)
n.1509T>G
Xg.18604182A>CCA412360157CDKL5c.1258A>C (p.Asn420His)
c.1207A>C (p.Asn403His)
c.1126A>C (p.Asn376His)
n.1510A>C
Xg.18604182A>GCA412360159CDKL5c.1258A>G (p.Asn420Asp)
c.1207A>G (p.Asn403Asp)
c.1126A>G (p.Asn376Asp)
n.1510A>G
Xg.18604182A>TCA412360161CDKL5c.1258A>T (p.Asn420Tyr)
c.1207A>T (p.Asn403Tyr)
c.1126A>T (p.Asn376Tyr)
n.1510A>T
Xg.18604183A>CCA412360163CDKL5c.1259A>C (p.Asn420Thr)
c.1208A>C (p.Asn403Thr)
c.1127A>C (p.Asn376Thr)
n.1511A>C
Xg.18604183A>GCA412360164CDKL5c.1259A>G (p.Asn420Ser)
c.1208A>G (p.Asn403Ser)
c.1127A>G (p.Asn376Ser)
n.1511A>G
 gnomAD v4
Xg.18604183A>TCA412360166CDKL5c.1259A>T (p.Asn420Ile)
c.1208A>T (p.Asn403Ile)
c.1127A>T (p.Asn376Ile)
n.1511A>T
Xg.18604184T>ACA412360168CDKL5c.1260T>A (p.Asn420Lys)
c.1209T>A (p.Asn403Lys)
c.1128T>A (p.Asn376Lys)
n.1512T>A
Xg.18604184T>CCA515627707CDKL5c.1260T>C (p.Asn420=)
c.1209T>C (p.Asn403=)
c.1128T>C (p.Asn376=)
n.1512T>C
Xg.18604184T>GCA412360169CDKL5c.1260T>G (p.Asn420Lys)
c.1209T>G (p.Asn403Lys)
c.1128T>G (p.Asn376Lys)
n.1512T>G
Xg.18604185A>CCA412360172CDKL5c.1261A>C (p.Ile421Leu)
c.1210A>C (p.Ile404Leu)
c.1129A>C (p.Ile377Leu)
n.1513A>C
Xg.18604185A>GCA412360175CDKL5c.1261A>G (p.Ile421Val)
c.1210A>G (p.Ile404Val)
c.1129A>G (p.Ile377Val)
n.1513A>G
Xg.18604185A>TCA412360173CDKL5c.1261A>T (p.Ile421Phe)
c.1210A>T (p.Ile404Phe)
c.1129A>T (p.Ile377Phe)
n.1513A>T
Xg.18604186T>ACA412360177CDKL5c.1262T>A (p.Ile421Asn)
c.1211T>A (p.Ile404Asn)
c.1130T>A (p.Ile377Asn)
n.1514T>A
Xg.18604186T>CCA412360178CDKL5c.1262T>C (p.Ile421Thr)
c.1211T>C (p.Ile404Thr)
c.1130T>C (p.Ile377Thr)
n.1514T>C
 dbSNP
Xg.18604186T>GCA412360180CDKL5c.1262T>G (p.Ile421Ser)
c.1211T>G (p.Ile404Ser)
c.1130T>G (p.Ile377Ser)
n.1514T>G
Xg.18604186T=CA2417973937CDKL5c.1262T= (p.Ile421=)
c.1211T= (p.Ile404=)
c.1130T= (p.Ile377=)
n.1514T=
Xg.18604187T>ACA515627712CDKL5c.1263T>A (p.Ile421=)
c.1212T>A (p.Ile404=)
c.1131T>A (p.Ile377=)
n.1515T>A
Xg.18604187T>CCA515627713CDKL5c.1263T>C (p.Ile421=)
c.1212T>C (p.Ile404=)
c.1131T>C (p.Ile377=)
n.1515T>C
Xg.18604187T>GCA412360182CDKL5c.1263T>G (p.Ile421Met)
c.1212T>G (p.Ile404Met)
c.1131T>G (p.Ile377Met)
n.1515T>G
Xg.18604188G>ACA412360184CDKL5c.1264G>A (p.Asp422Asn)
c.1213G>A (p.Asp405Asn)
c.1132G>A (p.Asp378Asn)
n.1516G>A
 COSMIC
Xg.18604188G>CCA412360188CDKL5c.1264G>C (p.Asp422His)
c.1213G>C (p.Asp405His)
c.1132G>C (p.Asp378His)
n.1516G>C
Xg.18604188G>TCA412360186CDKL5c.1264G>T (p.Asp422Tyr)
c.1213G>T (p.Asp405Tyr)
c.1132G>T (p.Asp378Tyr)
n.1516G>T
Xg.18604189A>CCA412360191CDKL5c.1265A>C (p.Asp422Ala)
c.1214A>C (p.Asp405Ala)
c.1133A>C (p.Asp378Ala)
n.1517A>C
Xg.18604189A>GCA412360192CDKL5c.1265A>G (p.Asp422Gly)
c.1214A>G (p.Asp405Gly)
c.1133A>G (p.Asp378Gly)
n.1517A>G
Xg.18604189A>TCA412360193CDKL5c.1265A>T (p.Asp422Val)
c.1214A>T (p.Asp405Val)
c.1133A>T (p.Asp378Val)
n.1517A>T
Xg.18604190C>ACA199421CDKL5c.1266C>A (p.Asp422Glu)
c.1215C>A (p.Asp405Glu)
c.1134C>A (p.Asp378Glu)
n.1518C>A
 ClinVar dbSNP
Xg.18604190C=CA2417973941CDKL5c.1266C= (p.Asp422=)
c.1215C= (p.Asp405=)
c.1134C= (p.Asp378=)
n.1518C=
Xg.18604190C>GCA412360197CDKL5c.1266C>G (p.Asp422Glu)
c.1215C>G (p.Asp405Glu)
c.1134C>G (p.Asp378Glu)
n.1518C>G
Xg.18604190C>TCA10360370CDKL5c.1266C>T (p.Asp422=)
c.1215C>T (p.Asp405=)
c.1134C>T (p.Asp378=)
n.1518C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604191C>ACA412360201CDKL5c.1267C>A (p.Pro423Thr)
c.1216C>A (p.Pro406Thr)
c.1135C>A (p.Pro379Thr)
n.1519C>A
Xg.18604191C=CA2417973943CDKL5c.1267C= (p.Pro423=)
c.1216C= (p.Pro406=)
c.1135C= (p.Pro379=)
n.1519C=
Xg.18604191C>GCA412360202CDKL5c.1267C>G (p.Pro423Ala)
c.1216C>G (p.Pro406Ala)
c.1135C>G (p.Pro379Ala)
n.1519C>G
Xg.18604191C>TCA412360203CDKL5c.1267C>T (p.Pro423Ser)
c.1216C>T (p.Pro406Ser)
c.1135C>T (p.Pro379Ser)
n.1519C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.18604192C>ACA412360206CDKL5c.1268C>A (p.Pro423Gln)
c.1217C>A (p.Pro406Gln)
c.1136C>A (p.Pro379Gln)
n.1520C>A
Xg.18604192C>GCA412360208CDKL5c.1268C>G (p.Pro423Arg)
c.1217C>G (p.Pro406Arg)
c.1136C>G (p.Pro379Arg)
n.1520C>G
Xg.18604192C>TCA412360210CDKL5c.1268C>T (p.Pro423Leu)
c.1217C>T (p.Pro406Leu)
c.1136C>T (p.Pro379Leu)
n.1520C>T
Xg.18604193A>CCA515627720CDKL5c.1269A>C (p.Pro423=)
c.1218A>C (p.Pro406=)
c.1137A>C (p.Pro379=)
n.1521A>C
Xg.18604193A>GCA515627721CDKL5c.1269A>G (p.Pro423=)
c.1218A>G (p.Pro406=)
c.1137A>G (p.Pro379=)
n.1521A>G
Xg.18604193A>TCA515627724CDKL5c.1269A>T (p.Pro423=)
c.1218A>T (p.Pro406=)
c.1137A>T (p.Pro379=)
n.1521A>T
Xg.18604194A>CCA412360215CDKL5c.1270A>C (p.Lys424Gln)
c.1219A>C (p.Lys407Gln)
c.1138A>C (p.Lys380Gln)
n.1522A>C
Xg.18604194A>GCA412360212CDKL5c.1270A>G (p.Lys424Glu)
c.1219A>G (p.Lys407Glu)
c.1138A>G (p.Lys380Glu)
n.1522A>G
Xg.18604194A>TCA412360214CDKL5c.1270A>T (p.Lys424Ter)
c.1219A>T (p.Lys407Ter)
c.1138A>T (p.Lys380Ter)
n.1522A>T
Xg.18604195A>CCA412360218CDKL5c.1271A>C (p.Lys424Thr)
c.1220A>C (p.Lys407Thr)
c.1139A>C (p.Lys380Thr)
n.1523A>C
 gnomAD v4 COSMIC
Xg.18604195A>GCA412360220CDKL5c.1271A>G (p.Lys424Arg)
c.1220A>G (p.Lys407Arg)
c.1139A>G (p.Lys380Arg)
n.1523A>G
Xg.18604195A>TCA412360221CDKL5c.1271A>T (p.Lys424Met)
c.1220A>T (p.Lys407Met)
c.1139A>T (p.Lys380Met)
n.1523A>T
Xg.18604196G>ACA515627728CDKL5c.1272G>A (p.Lys424=)
c.1221G>A (p.Lys407=)
c.1140G>A (p.Lys380=)
n.1524G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604196G>CCA412360224CDKL5c.1272G>C (p.Lys424Asn)
c.1221G>C (p.Lys407Asn)
c.1140G>C (p.Lys380Asn)
n.1524G>C
Xg.18604196G=CA2417973946CDKL5c.1272G= (p.Lys424=)
c.1221G= (p.Lys407=)
c.1140G= (p.Lys380=)
n.1524G=
Xg.18604196G>TCA412360226CDKL5c.1272G>T (p.Lys424Asn)
c.1221G>T (p.Lys407Asn)
c.1140G>T (p.Lys380Asn)
n.1524G>T
Xg.18604197C>ACA412360230CDKL5c.1273C>A (p.Pro425Thr)
c.1222C>A (p.Pro408Thr)
c.1141C>A (p.Pro381Thr)
n.1525C>A
Xg.18604197C=CA2417973949CDKL5c.1273C= (p.Pro425=)
c.1222C= (p.Pro408=)
c.1141C= (p.Pro381=)
n.1525C=
Xg.18604197C>GCA412360229CDKL5c.1273C>G (p.Pro425Ala)
c.1222C>G (p.Pro408Ala)
c.1141C>G (p.Pro381Ala)
n.1525C>G
Xg.18604197C>TCA412360227CDKL5c.1273C>T (p.Pro425Ser)
c.1222C>T (p.Pro408Ser)
c.1141C>T (p.Pro381Ser)
n.1525C>T
 ClinVar dbSNP
Xg.18604198C>ACA412360233CDKL5c.1274C>A (p.Pro425His)
c.1223C>A (p.Pro408His)
c.1142C>A (p.Pro381His)
n.1526C>A
Xg.18604198C>GCA412360235CDKL5c.1274C>G (p.Pro425Arg)
c.1223C>G (p.Pro408Arg)
c.1142C>G (p.Pro381Arg)
n.1526C>G
Xg.18604198C>TCA412360237CDKL5c.1274C>T (p.Pro425Leu)
c.1223C>T (p.Pro408Leu)
c.1142C>T (p.Pro381Leu)
n.1526C>T

Number of alleles fetched