Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604090_18604093del | CA2580615394 | CDKL5 | c.1166_1169del (p.Gln389LeufsTer?) c.1115_1118del (p.Gln372LeufsTer?) c.1034_1037del (p.Gln345LeufsTer?) n.1418_1421del | ClinVar |
X | g.18604092C>A | CA412359762 | CDKL5 | c.1168C>A (p.Pro390Thr) c.1117C>A (p.Pro373Thr) c.1036C>A (p.Pro346Thr) n.1420C>A | |
X | g.18604092C>G | CA412359764 | CDKL5 | c.1168C>G (p.Pro390Ala) c.1117C>G (p.Pro373Ala) c.1036C>G (p.Pro346Ala) n.1420C>G | |
X | g.18604092C>T | CA412359766 | CDKL5 | c.1168C>T (p.Pro390Ser) c.1117C>T (p.Pro373Ser) c.1036C>T (p.Pro346Ser) n.1420C>T | |
X | g.18604093C>A | CA412359768 | CDKL5 | c.1169C>A (p.Pro390His) c.1118C>A (p.Pro373His) c.1037C>A (p.Pro346His) n.1421C>A | |
X | g.18604093C>G | CA412359770 | CDKL5 | c.1169C>G (p.Pro390Arg) c.1118C>G (p.Pro373Arg) c.1037C>G (p.Pro346Arg) n.1421C>G | |
X | g.18604093C>T | CA412359772 | CDKL5 | c.1169C>T (p.Pro390Leu) c.1118C>T (p.Pro373Leu) c.1037C>T (p.Pro346Leu) n.1421C>T | |
X | g.18604094T>A | CA515627583 | CDKL5 | c.1170T>A (p.Pro390=) c.1119T>A (p.Pro373=) c.1038T>A (p.Pro346=) n.1422T>A | |
X | g.18604094T>C | CA515627581 | CDKL5 | c.1170T>C (p.Pro390=) c.1119T>C (p.Pro373=) c.1038T>C (p.Pro346=) n.1422T>C | |
X | g.18604094T>G | CA515627582 | CDKL5 | c.1170T>G (p.Pro390=) c.1119T>G (p.Pro373=) c.1038T>G (p.Pro346=) n.1422T>G | gnomAD v4 |
X | g.18604095G>A | CA412359774 | CDKL5 | c.1171G>A (p.Gly391Arg) c.1120G>A (p.Gly374Arg) c.1039G>A (p.Gly347Arg) n.1423G>A | |
X | g.18604095G>C | CA412359776 | CDKL5 | c.1171G>C (p.Gly391Arg) c.1120G>C (p.Gly374Arg) c.1039G>C (p.Gly347Arg) n.1423G>C | |
X | g.18604095G>T | CA412359778 | CDKL5 | c.1171G>T (p.Gly391Trp) c.1120G>T (p.Gly374Trp) c.1039G>T (p.Gly347Trp) n.1423G>T | |
X | g.18604096G>A | CA412359783 | CDKL5 | c.1172G>A (p.Gly391Glu) c.1121G>A (p.Gly374Glu) c.1040G>A (p.Gly347Glu) n.1424G>A | dbSNP |
X | g.18604096G>C | CA412359780 | CDKL5 | c.1172G>C (p.Gly391Ala) c.1121G>C (p.Gly374Ala) c.1040G>C (p.Gly347Ala) n.1424G>C | |
X | g.18604096G= | CA2417973833 | CDKL5 | c.1172G= (p.Gly391=) c.1121G= (p.Gly374=) c.1040G= (p.Gly347=) n.1424G= | |
X | g.18604096G>T | CA412359782 | CDKL5 | c.1172G>T (p.Gly391Val) c.1121G>T (p.Gly374Val) c.1040G>T (p.Gly347Val) n.1424G>T | |
X | g.18604097G>A | CA515627584 | CDKL5 | c.1173G>A (p.Gly391=) c.1122G>A (p.Gly374=) c.1041G>A (p.Gly347=) n.1425G>A | |
X | g.18604097G>C | CA515627585 | CDKL5 | c.1173G>C (p.Gly391=) c.1122G>C (p.Gly374=) c.1041G>C (p.Gly347=) n.1425G>C | |
X | g.18604097G>T | CA515627586 | CDKL5 | c.1173G>T (p.Gly391=) c.1122G>T (p.Gly374=) c.1041G>T (p.Gly347=) n.1425G>T | COSMIC |
X | g.18604098T>A | CA412359786 | CDKL5 | c.1174T>A (p.Ser392Thr) c.1123T>A (p.Ser375Thr) c.1042T>A (p.Ser348Thr) n.1426T>A | |
X | g.18604098T>C | CA412359788 | CDKL5 | c.1174T>C (p.Ser392Pro) c.1123T>C (p.Ser375Pro) c.1042T>C (p.Ser348Pro) n.1426T>C | |
X | g.18604098T>G | CA412359789 | CDKL5 | c.1174T>G (p.Ser392Ala) c.1123T>G (p.Ser375Ala) c.1042T>G (p.Ser348Ala) n.1426T>G | |
X | g.18604099C>A | CA412359792 | CDKL5 | c.1175C>A (p.Ser392Tyr) c.1124C>A (p.Ser375Tyr) c.1043C>A (p.Ser348Tyr) n.1427C>A | |
X | g.18604099C>G | CA412359794 | CDKL5 | c.1175C>G (p.Ser392Cys) c.1124C>G (p.Ser375Cys) c.1043C>G (p.Ser348Cys) n.1427C>G | |
X | g.18604099C>T | CA412359795 | CDKL5 | c.1175C>T (p.Ser392Phe) c.1124C>T (p.Ser375Phe) c.1043C>T (p.Ser348Phe) n.1427C>T | |
X | g.18604100T>A | CA515627588 | CDKL5 | c.1176T>A (p.Ser392=) c.1125T>A (p.Ser375=) c.1044T>A (p.Ser348=) n.1428T>A | |
X | g.18604100T>C | CA515627587 | CDKL5 | c.1176T>C (p.Ser392=) c.1125T>C (p.Ser375=) c.1044T>C (p.Ser348=) n.1428T>C | |
X | g.18604100T>G | CA515627589 | CDKL5 | c.1176T>G (p.Ser392=) c.1125T>G (p.Ser375=) c.1044T>G (p.Ser348=) n.1428T>G | |
X | g.18604101A= | CA2417973834 | CDKL5 | c.1177A= (p.Thr393=) c.1126A= (p.Thr376=) c.1045A= (p.Thr349=) n.1429A= | |
X | g.18604101A>C | CA412359797 | CDKL5 | c.1177A>C (p.Thr393Pro) c.1126A>C (p.Thr376Pro) c.1045A>C (p.Thr349Pro) n.1429A>C | |
X | g.18604101A>G | CA412359799 | CDKL5 | c.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 |
X | g.18604101A>T | CA412359800 | CDKL5 | c.1177A>T (p.Thr393Ser) c.1126A>T (p.Thr376Ser) c.1045A>T (p.Thr349Ser) n.1429A>T | |
X | g.18604102C>A | CA412359803 | CDKL5 | c.1178C>A (p.Thr393Asn) c.1127C>A (p.Thr376Asn) c.1046C>A (p.Thr349Asn) n.1430C>A | |
X | g.18604102C>G | CA412359805 | CDKL5 | c.1178C>G (p.Thr393Ser) c.1127C>G (p.Thr376Ser) c.1046C>G (p.Thr349Ser) n.1430C>G | gnomAD v4 |
X | g.18604102C>T | CA412359806 | CDKL5 | c.1178C>T (p.Thr393Ile) c.1127C>T (p.Thr376Ile) c.1046C>T (p.Thr349Ile) n.1430C>T | |
X | g.18604103C>A | CA515627590 | CDKL5 | c.1179C>A (p.Thr393=) c.1128C>A (p.Thr376=) c.1047C>A (p.Thr349=) n.1431C>A | |
X | g.18604103C>G | CA515627592 | CDKL5 | c.1179C>G (p.Thr393=) c.1128C>G (p.Thr376=) c.1047C>G (p.Thr349=) n.1431C>G | |
X | g.18604103C>T | CA515627593 | CDKL5 | c.1179C>T (p.Thr393=) c.1128C>T (p.Thr376=) c.1047C>T (p.Thr349=) n.1431C>T | |
X | g.18604104A>C | CA412359810 | CDKL5 | c.1180A>C (p.Ser394Arg) c.1129A>C (p.Ser377Arg) c.1048A>C (p.Ser350Arg) n.1432A>C | |
X | g.18604104A>G | CA412359812 | CDKL5 | c.1180A>G (p.Ser394Gly) c.1129A>G (p.Ser377Gly) c.1048A>G (p.Ser350Gly) n.1432A>G | |
X | g.18604104A>T | CA412359808 | CDKL5 | c.1180A>T (p.Ser394Cys) c.1129A>T (p.Ser377Cys) c.1048A>T (p.Ser350Cys) n.1432A>T | |
X | g.18604104_18604105dup | CA2740092027 | CDKL5 | c.1180_1181dup (p.Ser394ArgfsTer?) c.1129_1130dup (p.Ser377ArgfsTer?) c.1048_1049dup (p.Ser350ArgfsTer?) n.1432_1433dup | ClinVar |
X | g.18604105G>A | CA412359814 | CDKL5 | c.1181G>A (p.Ser394Asn) c.1130G>A (p.Ser377Asn) c.1049G>A (p.Ser350Asn) n.1433G>A | |
X | g.18604105G>C | CA412359816 | CDKL5 | c.1181G>C (p.Ser394Thr) c.1130G>C (p.Ser377Thr) c.1049G>C (p.Ser350Thr) n.1433G>C | |
X | g.18604105G>T | CA412359817 | CDKL5 | c.1181G>T (p.Ser394Ile) c.1130G>T (p.Ser377Ile) c.1049G>T (p.Ser350Ile) n.1433G>T | |
X | g.18604106C>A | CA412359820 | CDKL5 | c.1182C>A (p.Ser394Arg) c.1131C>A (p.Ser377Arg) c.1050C>A (p.Ser350Arg) n.1434C>A | |
X | g.18604106C>G | CA412359822 | CDKL5 | c.1182C>G (p.Ser394Arg) c.1131C>G (p.Ser377Arg) c.1050C>G (p.Ser350Arg) n.1434C>G | |
X | g.18604106C>T | CA515627595 | CDKL5 | c.1182C>T (p.Ser394=) c.1131C>T (p.Ser377=) c.1050C>T (p.Ser350=) n.1434C>T | |
X | g.18604107A>C | CA412359824 | CDKL5 | c.1183A>C (p.Lys395Gln) c.1132A>C (p.Lys378Gln) c.1051A>C (p.Lys351Gln) n.1435A>C | |
X | g.18604107A>G | CA412359826 | CDKL5 | c.1183A>G (p.Lys395Glu) c.1132A>G (p.Lys378Glu) c.1051A>G (p.Lys351Glu) n.1435A>G | |
X | g.18604107A>T | CA412359827 | CDKL5 | c.1183A>T (p.Lys395Ter) c.1132A>T (p.Lys378Ter) c.1051A>T (p.Lys351Ter) n.1435A>T | |
X | g.18604108A>C | CA412359830 | CDKL5 | c.1184A>C (p.Lys395Thr) c.1133A>C (p.Lys378Thr) c.1052A>C (p.Lys351Thr) n.1436A>C | |
X | g.18604108A>G | CA412359832 | CDKL5 | c.1184A>G (p.Lys395Arg) c.1133A>G (p.Lys378Arg) c.1052A>G (p.Lys351Arg) n.1436A>G | |
X | g.18604108A>T | CA412359833 | CDKL5 | c.1184A>T (p.Lys395Ile) c.1133A>T (p.Lys378Ile) c.1052A>T (p.Lys351Ile) n.1436A>T | |
X | g.18604109A>C | CA412359836 | CDKL5 | c.1185A>C (p.Lys395Asn) c.1134A>C (p.Lys378Asn) c.1053A>C (p.Lys351Asn) n.1437A>C | |
X | g.18604109A>G | CA515627597 | CDKL5 | c.1185A>G (p.Lys395=) c.1134A>G (p.Lys378=) c.1053A>G (p.Lys351=) n.1437A>G | |
X | g.18604109A>T | CA412359838 | CDKL5 | c.1185A>T (p.Lys395Asn) c.1134A>T (p.Lys378Asn) c.1053A>T (p.Lys351Asn) n.1437A>T | |
X | g.18604110G>A | CA412359843 | CDKL5 | c.1186G>A (p.Asp396Asn) c.1135G>A (p.Asp379Asn) c.1054G>A (p.Asp352Asn) n.1438G>A | gnomAD v4 |
X | g.18604110G>C | CA412359842 | CDKL5 | c.1186G>C (p.Asp396His) c.1135G>C (p.Asp379His) c.1054G>C (p.Asp352His) n.1438G>C | |
X | g.18604110G>T | CA412359841 | CDKL5 | c.1186G>T (p.Asp396Tyr) c.1135G>T (p.Asp379Tyr) c.1054G>T (p.Asp352Tyr) n.1438G>T | |
X | g.18604111A>C | CA412359846 | CDKL5 | c.1187A>C (p.Asp396Ala) c.1136A>C (p.Asp379Ala) c.1055A>C (p.Asp352Ala) n.1439A>C | |
X | g.18604111A>G | CA412359848 | CDKL5 | c.1187A>G (p.Asp396Gly) c.1136A>G (p.Asp379Gly) c.1055A>G (p.Asp352Gly) n.1439A>G | |
X | g.18604111A>T | CA412359849 | CDKL5 | c.1187A>T (p.Asp396Val) c.1136A>T (p.Asp379Val) c.1055A>T (p.Asp352Val) n.1439A>T | |
X | g.18604112T>A | CA10360362 | CDKL5 | c.1188T>A (p.Asp396Glu) c.1137T>A (p.Asp379Glu) c.1056T>A (p.Asp352Glu) n.1440T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604112T>C | CA515627601 | CDKL5 | c.1188T>C (p.Asp396=) c.1137T>C (p.Asp379=) c.1056T>C (p.Asp352=) n.1440T>C | |
X | g.18604112T>G | CA412359851 | CDKL5 | c.1188T>G (p.Asp396Glu) c.1137T>G (p.Asp379Glu) c.1056T>G (p.Asp352Glu) n.1440T>G | dbSNP |
X | g.18604112T= | CA2417973837 | CDKL5 | c.1188T= (p.Asp396=) c.1137T= (p.Asp379=) c.1056T= (p.Asp352=) n.1440T= | |
X | g.18604113C>A | CA412359853 | CDKL5 | c.1189C>A (p.Leu397Ile) c.1138C>A (p.Leu380Ile) c.1057C>A (p.Leu353Ile) n.1441C>A | |
X | g.18604113C= | CA2417973839 | CDKL5 | c.1189C= (p.Leu397=) c.1138C= (p.Leu380=) c.1057C= (p.Leu353=) n.1441C= | |
X | g.18604113C>G | CA412359855 | CDKL5 | c.1189C>G (p.Leu397Val) c.1138C>G (p.Leu380Val) c.1057C>G (p.Leu353Val) n.1441C>G | dbSNP |
X | g.18604113C>T | CA412359857 | CDKL5 | c.1189C>T (p.Leu397Phe) c.1138C>T (p.Leu380Phe) c.1057C>T (p.Leu353Phe) n.1441C>T | |
X | g.18604114T>A | CA412359859 | CDKL5 | c.1190T>A (p.Leu397His) c.1139T>A (p.Leu380His) c.1058T>A (p.Leu353His) n.1442T>A | |
X | g.18604114T>C | CA412359861 | CDKL5 | c.1190T>C (p.Leu397Pro) c.1139T>C (p.Leu380Pro) c.1058T>C (p.Leu353Pro) n.1442T>C | |
X | g.18604114T>G | CA412359863 | CDKL5 | c.1190T>G (p.Leu397Arg) c.1139T>G (p.Leu380Arg) c.1058T>G (p.Leu353Arg) n.1442T>G | |
X | g.18604115C>A | CA515627604 | CDKL5 | c.1191C>A (p.Leu397=) c.1140C>A (p.Leu380=) c.1059C>A (p.Leu353=) n.1443C>A | |
X | g.18604115C>G | CA515627603 | CDKL5 | c.1191C>G (p.Leu397=) c.1140C>G (p.Leu380=) c.1059C>G (p.Leu353=) n.1443C>G | |
X | g.18604115C>T | CA515627602 | CDKL5 | c.1191C>T (p.Leu397=) c.1140C>T (p.Leu380=) c.1059C>T (p.Leu353=) n.1443C>T | |
X | g.18604116A= | CA2417973843 | CDKL5 | c.1192A= (p.Thr398=) c.1141A= (p.Thr381=) c.1060A= (p.Thr354=) n.1444A= | |
X | g.18604116A>C | CA412359865 | CDKL5 | c.1192A>C (p.Thr398Pro) c.1141A>C (p.Thr381Pro) c.1060A>C (p.Thr354Pro) n.1444A>C | |
X | g.18604116A>G | CA326987735 | CDKL5 | c.1192A>G (p.Thr398Ala) c.1141A>G (p.Thr381Ala) c.1060A>G (p.Thr354Ala) n.1444A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604116A>T | CA412359867 | CDKL5 | c.1192A>T (p.Thr398Ser) c.1141A>T (p.Thr381Ser) c.1060A>T (p.Thr354Ser) n.1444A>T | |
X | g.18604117C>A | CA412359871 | CDKL5 | c.1193C>A (p.Thr398Asn) c.1142C>A (p.Thr381Asn) c.1061C>A (p.Thr354Asn) n.1445C>A | |
X | g.18604117C>G | CA412359873 | CDKL5 | c.1193C>G (p.Thr398Ser) c.1142C>G (p.Thr381Ser) c.1061C>G (p.Thr354Ser) n.1445C>G | |
X | g.18604117C>T | CA412359870 | CDKL5 | c.1193C>T (p.Thr398Ile) c.1142C>T (p.Thr381Ile) c.1061C>T (p.Thr354Ile) n.1445C>T | |
X | g.18604118C>A | CA515627606 | CDKL5 | c.1194C>A (p.Thr398=) c.1143C>A (p.Thr381=) c.1062C>A (p.Thr354=) n.1446C>A | |
X | g.18604118C>G | CA515627607 | CDKL5 | c.1194C>G (p.Thr398=) c.1143C>G (p.Thr381=) c.1062C>G (p.Thr354=) n.1446C>G | |
X | g.18604118C>T | CA515627608 | CDKL5 | c.1194C>T (p.Thr398=) c.1143C>T (p.Thr381=) c.1062C>T (p.Thr354=) n.1446C>T | |
X | g.18604126_18604128del | CA2693222668 | CDKL5 | c.1202_1204del (p.Asn401del) c.1151_1153del (p.Asn384del) c.1070_1072del (p.Asn357del) n.1454_1456del | gnomAD v4 |
X | g.18604119A>C | CA412359875 | CDKL5 | c.1195A>C (p.Asn399His) c.1144A>C (p.Asn382His) c.1063A>C (p.Asn355His) n.1447A>C | |
X | g.18604119A>G | CA412359877 | CDKL5 | c.1195A>G (p.Asn399Asp) c.1144A>G (p.Asn382Asp) c.1063A>G (p.Asn355Asp) n.1447A>G | |
X | g.18604119A>T | CA412359879 | CDKL5 | c.1195A>T (p.Asn399Tyr) c.1144A>T (p.Asn382Tyr) c.1063A>T (p.Asn355Tyr) n.1447A>T | |
X | g.18604120A= | CA2417973847 | CDKL5 | c.1196A= (p.Asn399=) c.1145A= (p.Asn382=) c.1064A= (p.Asn355=) n.1448A= | |
X | g.18604120A>C | CA170438 | CDKL5 | c.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 |
X | g.18604120A>G | CA412359882 | CDKL5 | c.1196A>G (p.Asn399Ser) c.1145A>G (p.Asn382Ser) c.1064A>G (p.Asn355Ser) n.1448A>G | ClinVar dbSNP |
X | g.18604120A>T | CA412359884 | CDKL5 | c.1196A>T (p.Asn399Ile) c.1145A>T (p.Asn382Ile) c.1064A>T (p.Asn355Ile) n.1448A>T | |
X | g.18604121C>A | CA412359886 | CDKL5 | c.1197C>A (p.Asn399Lys) c.1146C>A (p.Asn382Lys) c.1065C>A (p.Asn355Lys) n.1449C>A | |
X | g.18604121C= | CA2417973850 | CDKL5 | c.1197C= (p.Asn399=) c.1146C= (p.Asn382=) c.1065C= (p.Asn355=) n.1449C= | |
X | g.18604121C>G | CA412359888 | CDKL5 | c.1197C>G (p.Asn399Lys) c.1146C>G (p.Asn382Lys) c.1065C>G (p.Asn355Lys) n.1449C>G | |
X | g.18604121C>T | CA515627612 | CDKL5 | c.1197C>T (p.Asn399=) c.1146C>T (p.Asn382=) c.1065C>T (p.Asn355=) n.1449C>T | dbSNP gnomAD v4 |
X | g.18604122A= | CA2417973861 | CDKL5 | c.1198A= (p.Asn400=) c.1147A= (p.Asn383=) c.1066A= (p.Asn356=) n.1450A= | |
X | g.18604122A>C | CA326987740 | CDKL5 | c.1198A>C (p.Asn400His) c.1147A>C (p.Asn383His) c.1066A>C (p.Asn356His) n.1450A>C | ClinVar dbSNP gnomAD v4 |
X | g.18604122A>G | CA412359890 | CDKL5 | c.1198A>G (p.Asn400Asp) c.1147A>G (p.Asn383Asp) c.1066A>G (p.Asn356Asp) n.1450A>G | |
X | g.18604122A>T | CA412359892 | CDKL5 | c.1198A>T (p.Asn400Tyr) c.1147A>T (p.Asn383Tyr) c.1066A>T (p.Asn356Tyr) n.1450A>T | |
X | g.18604123A>C | CA412359894 | CDKL5 | c.1199A>C (p.Asn400Thr) c.1148A>C (p.Asn383Thr) c.1067A>C (p.Asn356Thr) n.1451A>C | |
X | g.18604123A>G | CA412359896 | CDKL5 | c.1199A>G (p.Asn400Ser) c.1148A>G (p.Asn383Ser) c.1067A>G (p.Asn356Ser) n.1451A>G | |
X | g.18604123A>T | CA412359897 | CDKL5 | c.1199A>T (p.Asn400Ile) c.1148A>T (p.Asn383Ile) c.1067A>T (p.Asn356Ile) n.1451A>T | |
X | g.18604124C>A | CA412359900 | CDKL5 | c.1200C>A (p.Asn400Lys) c.1149C>A (p.Asn383Lys) c.1068C>A (p.Asn356Lys) n.1452C>A | |
X | g.18604124C>G | CA412359902 | CDKL5 | c.1200C>G (p.Asn400Lys) c.1149C>G (p.Asn383Lys) c.1068C>G (p.Asn356Lys) n.1452C>G | |
X | g.18604124C>T | CA515627616 | CDKL5 | c.1200C>T (p.Asn400=) c.1149C>T (p.Asn383=) c.1068C>T (p.Asn356=) n.1452C>T | |
X | g.18604125A>C | CA412359903 | CDKL5 | c.1201A>C (p.Asn401His) c.1150A>C (p.Asn384His) c.1069A>C (p.Asn357His) n.1453A>C | |
X | g.18604125A>G | CA412359905 | CDKL5 | c.1201A>G (p.Asn401Asp) c.1150A>G (p.Asn384Asp) c.1069A>G (p.Asn357Asp) n.1453A>G | |
X | g.18604125A>T | CA412359907 | CDKL5 | c.1201A>T (p.Asn401Tyr) c.1150A>T (p.Asn384Tyr) c.1069A>T (p.Asn357Tyr) n.1453A>T | |
X | g.18604126A= | CA2417973864 | CDKL5 | c.1202A= (p.Asn401=) c.1151A= (p.Asn384=) c.1070A= (p.Asn357=) n.1454A= | |
X | g.18604126A>C | CA412359909 | CDKL5 | c.1202A>C (p.Asn401Thr) c.1151A>C (p.Asn384Thr) c.1070A>C (p.Asn357Thr) n.1454A>C | |
X | g.18604126A>G | CA412359911 | CDKL5 | c.1202A>G (p.Asn401Ser) c.1151A>G (p.Asn384Ser) c.1070A>G (p.Asn357Ser) n.1454A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604126A>T | CA412359913 | CDKL5 | c.1202A>T (p.Asn401Ile) c.1151A>T (p.Asn384Ile) c.1070A>T (p.Asn357Ile) n.1454A>T | |
X | g.18604127C>A | CA412359915 | CDKL5 | c.1203C>A (p.Asn401Lys) c.1152C>A (p.Asn384Lys) c.1071C>A (p.Asn357Lys) n.1455C>A | |
X | g.18604127C>G | CA412359916 | CDKL5 | c.1203C>G (p.Asn401Lys) c.1152C>G (p.Asn384Lys) c.1071C>G (p.Asn357Lys) n.1455C>G | |
X | g.18604127C>T | CA515627620 | CDKL5 | c.1203C>T (p.Asn401=) c.1152C>T (p.Asn384=) c.1071C>T (p.Asn357=) n.1455C>T | gnomAD v4 |
X | g.18604128A>C | CA412359919 | CDKL5 | c.1204A>C (p.Ile402Leu) c.1153A>C (p.Ile385Leu) c.1072A>C (p.Ile358Leu) n.1456A>C | |
X | g.18604128A>G | CA412359921 | CDKL5 | c.1204A>G (p.Ile402Val) c.1153A>G (p.Ile385Val) c.1072A>G (p.Ile358Val) n.1456A>G | |
X | g.18604128A>T | CA412359922 | CDKL5 | c.1204A>T (p.Ile402Leu) c.1153A>T (p.Ile385Leu) c.1072A>T (p.Ile358Leu) n.1456A>T | |
X | g.18604129T>A | CA10360363 | CDKL5 | c.1205T>A (p.Ile402Lys) c.1154T>A (p.Ile385Lys) c.1073T>A (p.Ile358Lys) n.1457T>A | dbSNP ExAC |
X | g.18604129T>C | CA412359926 | CDKL5 | c.1205T>C (p.Ile402Thr) c.1154T>C (p.Ile385Thr) c.1073T>C (p.Ile358Thr) n.1457T>C | |
X | g.18604129T>G | CA412359925 | CDKL5 | c.1205T>G (p.Ile402Arg) c.1154T>G (p.Ile385Arg) c.1073T>G (p.Ile358Arg) n.1457T>G | |
X | g.18604129T= | CA2417973866 | CDKL5 | c.1205T= (p.Ile402=) c.1154T= (p.Ile385=) c.1073T= (p.Ile358=) n.1457T= | |
X | g.18604130A>C | CA515627622 | CDKL5 | c.1206A>C (p.Ile402=) c.1155A>C (p.Ile385=) c.1074A>C (p.Ile358=) n.1458A>C | |
X | g.18604130A>G | CA412359928 | CDKL5 | c.1206A>G (p.Ile402Met) c.1155A>G (p.Ile385Met) c.1074A>G (p.Ile358Met) n.1458A>G | |
X | g.18604130A>T | CA515627623 | CDKL5 | c.1206A>T (p.Ile402=) c.1155A>T (p.Ile385=) c.1074A>T (p.Ile358=) n.1458A>T | |
X | g.18604131C>A | CA412359934 | CDKL5 | c.1207C>A (p.Pro403Thr) c.1156C>A (p.Pro386Thr) c.1075C>A (p.Pro359Thr) n.1459C>A | |
X | g.18604131C= | CA2417973868 | CDKL5 | c.1207C= (p.Pro403=) c.1156C= (p.Pro386=) c.1075C= (p.Pro359=) n.1459C= | |
X | g.18604131C>G | CA412359931 | CDKL5 | c.1207C>G (p.Pro403Ala) c.1156C>G (p.Pro386Ala) c.1075C>G (p.Pro359Ala) n.1459C>G | |
X | g.18604131C>T | CA412359932 | CDKL5 | c.1207C>T (p.Pro403Ser) c.1156C>T (p.Pro386Ser) c.1075C>T (p.Pro359Ser) n.1459C>T | |
X | g.18604132del | CA2580100406 | CDKL5 | c.1208del (p.Pro403HisfsTer?) c.1157del (p.Pro386HisfsTer?) c.1076del (p.Pro359HisfsTer?) n.1460del | ClinVar |
X | g.18604132C>A | CA412359937 | CDKL5 | c.1208C>A (p.Pro403Gln) c.1157C>A (p.Pro386Gln) c.1076C>A (p.Pro359Gln) n.1460C>A | |
X | g.18604132C>G | CA412359938 | CDKL5 | c.1208C>G (p.Pro403Arg) c.1157C>G (p.Pro386Arg) c.1076C>G (p.Pro359Arg) n.1460C>G | |
X | g.18604132C>T | CA412359940 | CDKL5 | c.1208C>T (p.Pro403Leu) c.1157C>T (p.Pro386Leu) c.1076C>T (p.Pro359Leu) n.1460C>T | |
X | g.18604135_18604136dup | CA16621277 | CDKL5 | c.1211_1212dup (p.Leu405ThrfsTer?) c.1160_1161dup (p.Leu388ThrfsTer?) c.1079_1080dup (p.Leu361ThrfsTer?) n.1463_1464dup | ClinVar dbSNP |
X | g.18604133A= | CA2417973874 | CDKL5 | c.1209A= (p.Pro403=) c.1158A= (p.Pro386=) c.1077A= (p.Pro359=) n.1461A= | |
X | g.18604133A>C | CA515627625 | CDKL5 | c.1209A>C (p.Pro403=) c.1158A>C (p.Pro386=) c.1077A>C (p.Pro359=) n.1461A>C | |
X | g.18604133A>G | CA10360364 | CDKL5 | c.1209A>G (p.Pro403=) c.1158A>G (p.Pro386=) c.1077A>G (p.Pro359=) n.1461A>G | dbSNP ExAC |
X | g.18604133A>T | CA515627626 | CDKL5 | c.1209A>T (p.Pro403=) c.1158A>T (p.Pro386=) c.1077A>T (p.Pro359=) n.1461A>T | |
X | g.18604134C>A | CA412359945 | CDKL5 | c.1210C>A (p.His404Asn) c.1159C>A (p.His387Asn) c.1078C>A (p.His360Asn) n.1462C>A | |
X | g.18604134C>G | CA412359943 | CDKL5 | c.1210C>G (p.His404Asp) c.1159C>G (p.His387Asp) c.1078C>G (p.His360Asp) n.1462C>G | |
X | g.18604134C>T | CA412359942 | CDKL5 | c.1210C>T (p.His404Tyr) c.1159C>T (p.His387Tyr) c.1078C>T (p.His360Tyr) n.1462C>T | |
X | g.18604135A>C | CA412359947 | CDKL5 | c.1211A>C (p.His404Pro) c.1160A>C (p.His387Pro) c.1079A>C (p.His360Pro) n.1463A>C | |
X | g.18604135A>G | CA412359948 | CDKL5 | c.1211A>G (p.His404Arg) c.1160A>G (p.His387Arg) c.1079A>G (p.His360Arg) n.1463A>G | |
X | g.18604135A>T | CA412359950 | CDKL5 | c.1211A>T (p.His404Leu) c.1160A>T (p.His387Leu) c.1079A>T (p.His360Leu) n.1463A>T | |
X | g.18604136C>A | CA412359953 | CDKL5 | c.1212C>A (p.His404Gln) c.1161C>A (p.His387Gln) c.1080C>A (p.His360Gln) n.1464C>A | |
X | g.18604136C>G | CA412359954 | CDKL5 | c.1212C>G (p.His404Gln) c.1161C>G (p.His387Gln) c.1080C>G (p.His360Gln) n.1464C>G | |
X | g.18604136C>T | CA515627631 | CDKL5 | c.1212C>T (p.His404=) c.1161C>T (p.His387=) c.1080C>T (p.His360=) n.1464C>T | gnomAD v4 |
X | g.18604136_18604139delinsCCTT | CA2417973880 | CDKL5 | c.1212_1215delinsCCTT (p.His404=) c.1161_1164delinsCCTT (p.His387=) c.1080_1083delinsCCTT (p.His360=) n.1464_1467delinsCCTT | |
X | g.18604138_18604146del | CA2819902067 | CDKL5 | c.1214_1222del (p.Leu405_Ser407del) c.1163_1171del (p.Leu388_Ser390del) c.1082_1090del (p.Leu361_Ser363del) n.1466_1474del | |
X | g.18604137C>A | CA412359963 | CDKL5 | c.1213C>A (p.Leu405Ile) c.1162C>A (p.Leu388Ile) c.1081C>A (p.Leu361Ile) n.1465C>A | |
X | g.18604137C= | CA2417973884 | CDKL5 | c.1213C= (p.Leu405=) c.1162C= (p.Leu388=) c.1081C= (p.Leu361=) n.1465C= | |
X | g.18604137C>G | CA412359962 | CDKL5 | c.1213C>G (p.Leu405Val) c.1162C>G (p.Leu388Val) c.1081C>G (p.Leu361Val) n.1465C>G | ClinVar dbSNP gnomAD v4 |
X | g.18604137C>T | CA412359958 | CDKL5 | c.1213C>T (p.Leu405Phe) c.1162C>T (p.Leu388Phe) c.1081C>T (p.Leu361Phe) n.1465C>T | |
X | g.18604140_18604142del | CA10360365 | CDKL5 | c.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 |
X | g.18604138T>A | CA412359965 | CDKL5 | c.1214T>A (p.Leu405His) c.1163T>A (p.Leu388His) c.1082T>A (p.Leu361His) n.1466T>A | |
X | g.18604138T>C | CA412359967 | CDKL5 | c.1214T>C (p.Leu405Pro) c.1163T>C (p.Leu388Pro) c.1082T>C (p.Leu361Pro) n.1466T>C | |
X | g.18604138T>G | CA412359968 | CDKL5 | c.1214T>G (p.Leu405Arg) c.1163T>G (p.Leu388Arg) c.1082T>G (p.Leu361Arg) n.1466T>G | |
X | g.18604139T>A | CA515627634 | CDKL5 | c.1215T>A (p.Leu405=) c.1164T>A (p.Leu388=) c.1083T>A (p.Leu361=) n.1467T>A | |
X | g.18604139T>C | CA515627635 | CDKL5 | c.1215T>C (p.Leu405=) c.1164T>C (p.Leu388=) c.1083T>C (p.Leu361=) n.1467T>C | |
X | g.18604139T>G | CA515627636 | CDKL5 | c.1215T>G (p.Leu405=) c.1164T>G (p.Leu388=) c.1083T>G (p.Leu361=) n.1467T>G | |
X | g.18604140C>A | CA412359970 | CDKL5 | c.1216C>A (p.Leu406Ile) c.1165C>A (p.Leu389Ile) c.1084C>A (p.Leu362Ile) n.1468C>A | |
X | g.18604140C>G | CA412359972 | CDKL5 | c.1216C>G (p.Leu406Val) c.1165C>G (p.Leu389Val) c.1084C>G (p.Leu362Val) n.1468C>G | |
X | g.18604140C>T | CA412359974 | CDKL5 | c.1216C>T (p.Leu406Phe) c.1165C>T (p.Leu389Phe) c.1084C>T (p.Leu362Phe) n.1468C>T | gnomAD v4 |
X | g.18604141T>A | CA412359975 | CDKL5 | c.1217T>A (p.Leu406His) c.1166T>A (p.Leu389His) c.1085T>A (p.Leu362His) n.1469T>A | |
X | g.18604141T>C | CA412359976 | CDKL5 | c.1217T>C (p.Leu406Pro) c.1166T>C (p.Leu389Pro) c.1085T>C (p.Leu362Pro) n.1469T>C | |
X | g.18604141T>G | CA412359978 | CDKL5 | c.1217T>G (p.Leu406Arg) c.1166T>G (p.Leu389Arg) c.1085T>G (p.Leu362Arg) n.1469T>G | |
X | g.18604142T>A | CA515627638 | CDKL5 | c.1218T>A (p.Leu406=) c.1167T>A (p.Leu389=) c.1086T>A (p.Leu362=) n.1470T>A | |
X | g.18604142T>C | CA515627637 | CDKL5 | c.1218T>C (p.Leu406=) c.1167T>C (p.Leu389=) c.1086T>C (p.Leu362=) n.1470T>C | |
X | g.18604142T>G | CA515627640 | CDKL5 | c.1218T>G (p.Leu406=) c.1167T>G (p.Leu389=) c.1086T>G (p.Leu362=) n.1470T>G | |
X | g.18604143A>C | CA412359979 | CDKL5 | c.1219A>C (p.Ser407Arg) c.1168A>C (p.Ser390Arg) c.1087A>C (p.Ser363Arg) n.1471A>C | |
X | g.18604143A>G | CA412359980 | CDKL5 | c.1219A>G (p.Ser407Gly) c.1168A>G (p.Ser390Gly) c.1087A>G (p.Ser363Gly) n.1471A>G | |
X | g.18604143A>T | CA412359981 | CDKL5 | c.1219A>T (p.Ser407Cys) c.1168A>T (p.Ser390Cys) c.1087A>T (p.Ser363Cys) n.1471A>T | |
X | g.18604144G>A | CA412359984 | CDKL5 | c.1220G>A (p.Ser407Asn) c.1169G>A (p.Ser390Asn) c.1088G>A (p.Ser363Asn) n.1472G>A | |
X | g.18604144G>C | CA412359987 | CDKL5 | c.1220G>C (p.Ser407Thr) c.1169G>C (p.Ser390Thr) c.1088G>C (p.Ser363Thr) n.1472G>C | |
X | g.18604144G>T | CA412359986 | CDKL5 | c.1220G>T (p.Ser407Ile) c.1169G>T (p.Ser390Ile) c.1088G>T (p.Ser363Ile) n.1472G>T | |
X | g.18604145C>A | CA412359989 | CDKL5 | c.1221C>A (p.Ser407Arg) c.1170C>A (p.Ser390Arg) c.1089C>A (p.Ser363Arg) n.1473C>A | |
X | g.18604145C>G | CA412359991 | CDKL5 | c.1221C>G (p.Ser407Arg) c.1170C>G (p.Ser390Arg) c.1089C>G (p.Ser363Arg) n.1473C>G | |
X | g.18604145C>T | CA515627645 | CDKL5 | c.1221C>T (p.Ser407=) c.1170C>T (p.Ser390=) c.1089C>T (p.Ser363=) n.1473C>T | |
X | g.18604146C>A | CA412359993 | CDKL5 | c.1222C>A (p.Pro408Thr) c.1171C>A (p.Pro391Thr) c.1090C>A (p.Pro364Thr) n.1474C>A | |
X | g.18604146C>G | CA412359994 | CDKL5 | c.1222C>G (p.Pro408Ala) c.1171C>G (p.Pro391Ala) c.1090C>G (p.Pro364Ala) n.1474C>G | |
X | g.18604146C>T | CA412359997 | CDKL5 | c.1222C>T (p.Pro408Ser) c.1171C>T (p.Pro391Ser) c.1090C>T (p.Pro364Ser) n.1474C>T | |
X | g.18604147C>A | CA412359999 | CDKL5 | c.1223C>A (p.Pro408Gln) c.1172C>A (p.Pro391Gln) c.1091C>A (p.Pro364Gln) n.1475C>A | |
X | g.18604147C>G | CA412360000 | CDKL5 | c.1223C>G (p.Pro408Arg) c.1172C>G (p.Pro391Arg) c.1091C>G (p.Pro364Arg) n.1475C>G | |
X | g.18604147C>T | CA412360002 | CDKL5 | c.1223C>T (p.Pro408Leu) c.1172C>T (p.Pro391Leu) c.1091C>T (p.Pro364Leu) n.1475C>T | |
X | g.18604148A>C | CA515627650 | CDKL5 | c.1224A>C (p.Pro408=) c.1173A>C (p.Pro391=) c.1092A>C (p.Pro364=) n.1476A>C | |
X | g.18604148A>G | CA515627651 | CDKL5 | c.1224A>G (p.Pro408=) c.1173A>G (p.Pro391=) c.1092A>G (p.Pro364=) n.1476A>G | |
X | g.18604148A>T | CA515627653 | CDKL5 | c.1224A>T (p.Pro408=) c.1173A>T (p.Pro391=) c.1092A>T (p.Pro364=) n.1476A>T | |
X | g.18604149A= | CA2417973887 | CDKL5 | c.1225A= (p.Lys409=) c.1174A= (p.Lys392=) c.1093A= (p.Lys365=) n.1477A= | |
X | g.18604149A>C | CA412360005 | CDKL5 | c.1225A>C (p.Lys409Gln) c.1174A>C (p.Lys392Gln) c.1093A>C (p.Lys365Gln) n.1477A>C | |
X | g.18604149A>G | CA10360366 | CDKL5 | c.1225A>G (p.Lys409Glu) c.1174A>G (p.Lys392Glu) c.1093A>G (p.Lys365Glu) n.1477A>G | dbSNP ExAC gnomAD v2 |
X | g.18604149A>T | CA412360007 | CDKL5 | c.1225A>T (p.Lys409Ter) c.1174A>T (p.Lys392Ter) c.1093A>T (p.Lys365Ter) n.1477A>T | |
X | g.18604150A>C | CA412360009 | CDKL5 | c.1226A>C (p.Lys409Thr) c.1175A>C (p.Lys392Thr) c.1094A>C (p.Lys365Thr) n.1478A>C | |
X | g.18604150A>G | CA412360010 | CDKL5 | c.1226A>G (p.Lys409Arg) c.1175A>G (p.Lys392Arg) c.1094A>G (p.Lys365Arg) n.1478A>G | |
X | g.18604150A>T | CA412360012 | CDKL5 | c.1226A>T (p.Lys409Ile) c.1175A>T (p.Lys392Ile) c.1094A>T (p.Lys365Ile) n.1478A>T | |
X | g.18604151A>C | CA412360014 | CDKL5 | c.1227A>C (p.Lys409Asn) c.1176A>C (p.Lys392Asn) c.1095A>C (p.Lys365Asn) n.1479A>C | |
X | g.18604151A>G | CA515627657 | CDKL5 | c.1227A>G (p.Lys409=) c.1176A>G (p.Lys392=) c.1095A>G (p.Lys365=) n.1479A>G | |
X | g.18604151A>T | CA412360016 | CDKL5 | c.1227A>T (p.Lys409Asn) c.1176A>T (p.Lys392Asn) c.1095A>T (p.Lys365Asn) n.1479A>T | |
X | g.18604152G>A | CA412360018 | CDKL5 | c.1228G>A (p.Glu410Lys) c.1177G>A (p.Glu393Lys) c.1096G>A (p.Glu366Lys) n.1480G>A | |
X | g.18604152G>C | CA412360020 | CDKL5 | c.1228G>C (p.Glu410Gln) c.1177G>C (p.Glu393Gln) c.1096G>C (p.Glu366Gln) n.1480G>C | |
X | g.18604152G>T | CA412360022 | CDKL5 | c.1228G>T (p.Glu410Ter) c.1177G>T (p.Glu393Ter) c.1096G>T (p.Glu366Ter) n.1480G>T | |
X | g.18604153A>C | CA412360024 | CDKL5 | c.1229A>C (p.Glu410Ala) c.1178A>C (p.Glu393Ala) c.1097A>C (p.Glu366Ala) n.1481A>C | |
X | g.18604153A>G | CA412360026 | CDKL5 | c.1229A>G (p.Glu410Gly) c.1178A>G (p.Glu393Gly) c.1097A>G (p.Glu366Gly) n.1481A>G | |
X | g.18604153A>T | CA412360028 | CDKL5 | c.1229A>T (p.Glu410Val) c.1178A>T (p.Glu393Val) c.1097A>T (p.Glu366Val) n.1481A>T | |
X | g.18604154A= | CA2417973890 | CDKL5 | c.1230A= (p.Glu410=) c.1179A= (p.Glu393=) c.1098A= (p.Glu366=) n.1482A= | |
X | g.18604154A>C | CA10360367 | CDKL5 | c.1230A>C (p.Glu410Asp) c.1179A>C (p.Glu393Asp) c.1098A>C (p.Glu366Asp) n.1482A>C | ClinVar dbSNP ExAC gnomAD v2 |
X | g.18604154A>G | CA515627663 | CDKL5 | c.1230A>G (p.Glu410=) c.1179A>G (p.Glu393=) c.1098A>G (p.Glu366=) n.1482A>G | |
X | g.18604154A>T | CA412360031 | CDKL5 | c.1230A>T (p.Glu410Asp) c.1179A>T (p.Glu393Asp) c.1098A>T (p.Glu366Asp) n.1482A>T | ClinVar |
X | g.18604155G>A | CA412360033 | CDKL5 | c.1231G>A (p.Ala411Thr) c.1180G>A (p.Ala394Thr) c.1099G>A (p.Ala367Thr) n.1483G>A | |
X | g.18604155G>C | CA412360035 | CDKL5 | c.1231G>C (p.Ala411Pro) c.1180G>C (p.Ala394Pro) c.1099G>C (p.Ala367Pro) n.1483G>C | |
X | g.18604155G>T | CA412360037 | CDKL5 | c.1231G>T (p.Ala411Ser) c.1180G>T (p.Ala394Ser) c.1099G>T (p.Ala367Ser) n.1483G>T | |
X | g.18604156C>A | CA412360039 | CDKL5 | c.1232C>A (p.Ala411Asp) c.1181C>A (p.Ala394Asp) c.1100C>A (p.Ala367Asp) n.1484C>A | |
X | g.18604156C>G | CA412360043 | CDKL5 | c.1232C>G (p.Ala411Gly) c.1181C>G (p.Ala394Gly) c.1100C>G (p.Ala367Gly) n.1484C>G | gnomAD v4 |
X | g.18604156C>T | CA412360041 | CDKL5 | c.1232C>T (p.Ala411Val) c.1181C>T (p.Ala394Val) c.1100C>T (p.Ala367Val) n.1484C>T | |
X | g.18604157C>A | CA515627664 | CDKL5 | c.1233C>A (p.Ala411=) c.1182C>A (p.Ala394=) c.1101C>A (p.Ala367=) n.1485C>A | |
X | g.18604157C= | CA2417973894 | CDKL5 | c.1233C= (p.Ala411=) c.1182C= (p.Ala394=) c.1101C= (p.Ala367=) n.1485C= | |
X | g.18604157C>G | CA515627667 | CDKL5 | c.1233C>G (p.Ala411=) c.1182C>G (p.Ala394=) c.1101C>G (p.Ala367=) n.1485C>G | gnomAD v4 |
X | g.18604157C>T | CA326987748 | CDKL5 | c.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 |
X | g.18604158A= | CA2417973898 | CDKL5 | c.1234A= (p.Lys412=) c.1183A= (p.Lys395=) c.1102A= (p.Lys368=) n.1486A= | |
X | g.18604158A>C | CA412360045 | CDKL5 | c.1234A>C (p.Lys412Gln) c.1183A>C (p.Lys395Gln) c.1102A>C (p.Lys368Gln) n.1486A>C | |
X | g.18604158A>G | CA10360368 | CDKL5 | c.1234A>G (p.Lys412Glu) c.1183A>G (p.Lys395Glu) c.1102A>G (p.Lys368Glu) n.1486A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604158A>T | CA412360047 | CDKL5 | c.1234A>T (p.Lys412Ter) c.1183A>T (p.Lys395Ter) c.1102A>T (p.Lys368Ter) n.1486A>T | |
X | g.18604159A>C | CA412360050 | CDKL5 | c.1235A>C (p.Lys412Thr) c.1184A>C (p.Lys395Thr) c.1103A>C (p.Lys368Thr) n.1487A>C | |
X | g.18604159A>G | CA412360051 | CDKL5 | c.1235A>G (p.Lys412Arg) c.1184A>G (p.Lys395Arg) c.1103A>G (p.Lys368Arg) n.1487A>G | |
X | g.18604159A>T | CA412360053 | CDKL5 | c.1235A>T (p.Lys412Met) c.1184A>T (p.Lys395Met) c.1103A>T (p.Lys368Met) n.1487A>T | |
X | g.18604160G>A | CA515627669 | CDKL5 | c.1236G>A (p.Lys412=) c.1185G>A (p.Lys395=) c.1104G>A (p.Lys368=) n.1488G>A | |
X | g.18604160G>C | CA412360055 | CDKL5 | c.1236G>C (p.Lys412Asn) c.1185G>C (p.Lys395Asn) c.1104G>C (p.Lys368Asn) n.1488G>C | |
X | g.18604160G>T | CA412360056 | CDKL5 | c.1236G>T (p.Lys412Asn) c.1185G>T (p.Lys395Asn) c.1104G>T (p.Lys368Asn) n.1488G>T | |
X | g.18604161T>A | CA412360059 | CDKL5 | c.1237T>A (p.Ser413Thr) c.1186T>A (p.Ser396Thr) c.1105T>A (p.Ser369Thr) n.1489T>A | |
X | g.18604161T>C | CA412360061 | CDKL5 | c.1237T>C (p.Ser413Pro) c.1186T>C (p.Ser396Pro) c.1105T>C (p.Ser369Pro) n.1489T>C | |
X | g.18604161T>G | CA412360062 | CDKL5 | c.1237T>G (p.Ser413Ala) c.1186T>G (p.Ser396Ala) c.1105T>G (p.Ser369Ala) n.1489T>G | |
X | g.18604162C>A | CA412360063 | CDKL5 | c.1238C>A (p.Ser413Ter) c.1187C>A (p.Ser396Ter) c.1106C>A (p.Ser369Ter) n.1490C>A | ClinVar dbSNP |
X | g.18604162C= | CA2417973910 | CDKL5 | c.1238C= (p.Ser413=) c.1187C= (p.Ser396=) c.1106C= (p.Ser369=) n.1490C= | |
X | g.18604162C>G | CA170440 | CDKL5 | c.1238C>G (p.Ser413Ter) c.1187C>G (p.Ser396Ter) c.1106C>G (p.Ser369Ter) n.1490C>G | ClinVar dbSNP |
X | g.18604162C>T | CA412360066 | CDKL5 | c.1238C>T (p.Ser413Leu) c.1187C>T (p.Ser396Leu) c.1106C>T (p.Ser369Leu) n.1490C>T | |
X | g.18604163A>C | CA515627672 | CDKL5 | c.1239A>C (p.Ser413=) c.1188A>C (p.Ser396=) c.1107A>C (p.Ser369=) n.1491A>C | |
X | g.18604163A>G | CA515627673 | CDKL5 | c.1239A>G (p.Ser413=) c.1188A>G (p.Ser396=) c.1107A>G (p.Ser369=) n.1491A>G | |
X | g.18604163A>T | CA515627675 | CDKL5 | c.1239A>T (p.Ser413=) c.1188A>T (p.Ser396=) c.1107A>T (p.Ser369=) n.1491A>T | |
X | g.18604167dup | CA2580100409 | CDKL5 | c.1243dup (p.Thr415AsnfsTer4) c.1192dup (p.Thr398AsnfsTer4) c.1111dup (p.Thr371AsnfsTer4) n.1495dup | ClinVar |
X | g.18604164A>C | CA412360071 | CDKL5 | c.1240A>C (p.Lys414Gln) c.1189A>C (p.Lys397Gln) c.1108A>C (p.Lys370Gln) n.1492A>C | |
X | g.18604164A>G | CA412360068 | CDKL5 | c.1240A>G (p.Lys414Glu) c.1189A>G (p.Lys397Glu) c.1108A>G (p.Lys370Glu) n.1492A>G | |
X | g.18604164A>T | CA412360067 | CDKL5 | c.1240A>T (p.Lys414Ter) c.1189A>T (p.Lys397Ter) c.1108A>T (p.Lys370Ter) n.1492A>T | |
X | g.18604165A>C | CA412360072 | CDKL5 | c.1241A>C (p.Lys414Thr) c.1190A>C (p.Lys397Thr) c.1109A>C (p.Lys370Thr) n.1493A>C | |
X | g.18604165A>G | CA412360074 | CDKL5 | c.1241A>G (p.Lys414Arg) c.1190A>G (p.Lys397Arg) c.1109A>G (p.Lys370Arg) n.1493A>G | |
X | g.18604165A>T | CA412360076 | CDKL5 | c.1241A>T (p.Lys414Ile) c.1190A>T (p.Lys397Ile) c.1109A>T (p.Lys370Ile) n.1493A>T | |
X | g.18604166A= | CA2417973917 | CDKL5 | c.1242A= (p.Lys414=) c.1191A= (p.Lys397=) c.1110A= (p.Lys370=) n.1494A= | |
X | g.18604166A>C | CA412360077 | CDKL5 | c.1242A>C (p.Lys414Asn) c.1191A>C (p.Lys397Asn) c.1110A>C (p.Lys370Asn) n.1494A>C | |
X | g.18604166A>G | CA515627678 | CDKL5 | c.1242A>G (p.Lys414=) c.1191A>G (p.Lys397=) c.1110A>G (p.Lys370=) n.1494A>G | ClinVar dbSNP |
X | g.18604166A>T | CA412360078 | CDKL5 | c.1242A>T (p.Lys414Asn) c.1191A>T (p.Lys397Asn) c.1110A>T (p.Lys370Asn) n.1494A>T | |
X | g.18604167A= | CA2417973921 | CDKL5 | c.1243A= (p.Thr415=) c.1192A= (p.Thr398=) c.1111A= (p.Thr371=) n.1495A= | |
X | g.18604167A>C | CA412360079 | CDKL5 | c.1243A>C (p.Thr415Pro) c.1192A>C (p.Thr398Pro) c.1111A>C (p.Thr371Pro) n.1495A>C | |
X | g.18604167A>G | CA10360369 | CDKL5 | c.1243A>G (p.Thr415Ala) c.1192A>G (p.Thr398Ala) c.1111A>G (p.Thr371Ala) n.1495A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604167A>T | CA412360083 | CDKL5 | c.1243A>T (p.Thr415Ser) c.1192A>T (p.Thr398Ser) c.1111A>T (p.Thr371Ser) n.1495A>T | |
X | g.18604168_18604169del | CA2695231307 | CDKL5 | c.1244_1245del (p.Thr415ArgfsTer3) c.1193_1194del (p.Thr398ArgfsTer3) c.1112_1113del (p.Thr371ArgfsTer3) n.1496_1497del | |
X | g.18604168C>A | CA412360084 | CDKL5 | c.1244C>A (p.Thr415Lys) c.1193C>A (p.Thr398Lys) c.1112C>A (p.Thr371Lys) n.1496C>A | |
X | g.18604168C>G | CA412360086 | CDKL5 | c.1244C>G (p.Thr415Arg) c.1193C>G (p.Thr398Arg) c.1112C>G (p.Thr371Arg) n.1496C>G | |
X | g.18604168C>T | CA412360089 | CDKL5 | c.1244C>T (p.Thr415Ile) c.1193C>T (p.Thr398Ile) c.1112C>T (p.Thr371Ile) n.1496C>T | |
X | g.18604168_18604170delinsCAG | CA2417973924 | CDKL5 | c.1244_1246delinsCAG (p.Thr415=) c.1193_1195delinsCAG (p.Thr398=) c.1112_1114delinsCAG (p.Thr371=) n.1496_1498delinsCAG | |
X | g.18604169A>C | CA515627685 | CDKL5 | c.1245A>C (p.Thr415=) c.1194A>C (p.Thr398=) c.1113A>C (p.Thr371=) n.1497A>C | |
X | g.18604169A>G | CA515627686 | CDKL5 | c.1245A>G (p.Thr415=) c.1194A>G (p.Thr398=) c.1113A>G (p.Thr371=) n.1497A>G | gnomAD v4 |
X | g.18604169A>T | CA515627687 | CDKL5 | c.1245A>T (p.Thr415=) c.1194A>T (p.Thr398=) c.1113A>T (p.Thr371=) n.1497A>T | |
X | g.18604171_18604172del | CA235608 | CDKL5 | c.1247_1248del (p.Glu416ValfsTer2) c.1196_1197del (p.Glu399ValfsTer2) c.1115_1116del (p.Glu372ValfsTer2) n.1499_1500del | ClinVar dbSNP |
X | g.18604170G>A | CA412360096 | CDKL5 | c.1246G>A (p.Glu416Lys) c.1195G>A (p.Glu399Lys) c.1114G>A (p.Glu372Lys) n.1498G>A | |
X | g.18604170G>C | CA412360091 | CDKL5 | c.1246G>C (p.Glu416Gln) c.1195G>C (p.Glu399Gln) c.1114G>C (p.Glu372Gln) n.1498G>C | |
X | g.18604170G= | CA2417973930 | CDKL5 | c.1246G= (p.Glu416=) c.1195G= (p.Glu399=) c.1114G= (p.Glu372=) n.1498G= | |
X | g.18604170G>T | CA412360098 | CDKL5 | c.1246G>T (p.Glu416Ter) c.1195G>T (p.Glu399Ter) c.1114G>T (p.Glu372Ter) n.1498G>T | ClinVar dbSNP |
X | g.18604171A>C | CA412360100 | CDKL5 | c.1247A>C (p.Glu416Ala) c.1196A>C (p.Glu399Ala) c.1115A>C (p.Glu372Ala) n.1499A>C | |
X | g.18604171A>G | CA412360104 | CDKL5 | c.1247A>G (p.Glu416Gly) c.1196A>G (p.Glu399Gly) c.1115A>G (p.Glu372Gly) n.1499A>G | |
X | g.18604171A>T | CA412360106 | CDKL5 | c.1247A>T (p.Glu416Val) c.1196A>T (p.Glu399Val) c.1115A>T (p.Glu372Val) n.1499A>T | |
X | g.18604172G>A | CA515627694 | CDKL5 | c.1248G>A (p.Glu416=) c.1197G>A (p.Glu399=) c.1116G>A (p.Glu372=) n.1500G>A | gnomAD v4 |
X | g.18604172G>C | CA412360108 | CDKL5 | c.1248G>C (p.Glu416Asp) c.1197G>C (p.Glu399Asp) c.1116G>C (p.Glu372Asp) n.1500G>C | |
X | g.18604172G>T | CA412360109 | CDKL5 | c.1248G>T (p.Glu416Asp) c.1197G>T (p.Glu399Asp) c.1116G>T (p.Glu372Asp) n.1500G>T | |
X | g.18604173T>A | CA412360113 | CDKL5 | c.1249T>A (p.Phe417Ile) c.1198T>A (p.Phe400Ile) c.1117T>A (p.Phe373Ile) n.1501T>A | |
X | g.18604173T>C | CA412360111 | CDKL5 | c.1249T>C (p.Phe417Leu) c.1198T>C (p.Phe400Leu) c.1117T>C (p.Phe373Leu) n.1501T>C | |
X | g.18604173T>G | CA412360112 | CDKL5 | c.1249T>G (p.Phe417Val) c.1198T>G (p.Phe400Val) c.1117T>G (p.Phe373Val) n.1501T>G | |
X | g.18604174T>A | CA412360115 | CDKL5 | c.1250T>A (p.Phe417Tyr) c.1199T>A (p.Phe400Tyr) c.1118T>A (p.Phe373Tyr) n.1502T>A | |
X | g.18604174T>C | CA412360117 | CDKL5 | c.1250T>C (p.Phe417Ser) c.1199T>C (p.Phe400Ser) c.1118T>C (p.Phe373Ser) n.1502T>C | |
X | g.18604174T>G | CA412360119 | CDKL5 | c.1250T>G (p.Phe417Cys) c.1199T>G (p.Phe400Cys) c.1118T>G (p.Phe373Cys) n.1502T>G | |
X | g.18604175T>A | CA412360121 | CDKL5 | c.1251T>A (p.Phe417Leu) c.1200T>A (p.Phe400Leu) c.1119T>A (p.Phe373Leu) n.1503T>A | |
X | g.18604175T>C | CA515627696 | CDKL5 | c.1251T>C (p.Phe417=) c.1200T>C (p.Phe400=) c.1119T>C (p.Phe373=) n.1503T>C | |
X | g.18604175T>G | CA412360123 | CDKL5 | c.1251T>G (p.Phe417Leu) c.1200T>G (p.Phe400Leu) c.1119T>G (p.Phe373Leu) n.1503T>G | |
X | g.18604176G>A | CA412360126 | CDKL5 | c.1252G>A (p.Asp418Asn) c.1201G>A (p.Asp401Asn) c.1120G>A (p.Asp374Asn) n.1504G>A | |
X | g.18604176G>C | CA412360129 | CDKL5 | c.1252G>C (p.Asp418His) c.1201G>C (p.Asp401His) c.1120G>C (p.Asp374His) n.1504G>C | |
X | g.18604176G>T | CA412360127 | CDKL5 | c.1252G>T (p.Asp418Tyr) c.1201G>T (p.Asp401Tyr) c.1120G>T (p.Asp374Tyr) n.1504G>T | |
X | g.18604177A>C | CA412360131 | CDKL5 | c.1253A>C (p.Asp418Ala) c.1202A>C (p.Asp401Ala) c.1121A>C (p.Asp374Ala) n.1505A>C | |
X | g.18604177A>G | CA412360132 | CDKL5 | c.1253A>G (p.Asp418Gly) c.1202A>G (p.Asp401Gly) c.1121A>G (p.Asp374Gly) n.1505A>G | |
X | g.18604177A>T | CA412360134 | CDKL5 | c.1253A>T (p.Asp418Val) c.1202A>T (p.Asp401Val) c.1121A>T (p.Asp374Val) n.1505A>T | |
X | g.18604178T>A | CA412360136 | CDKL5 | c.1254T>A (p.Asp418Glu) c.1203T>A (p.Asp401Glu) c.1122T>A (p.Asp374Glu) n.1506T>A | |
X | g.18604178T>C | CA515627700 | CDKL5 | c.1254T>C (p.Asp418=) c.1203T>C (p.Asp401=) c.1122T>C (p.Asp374=) n.1506T>C | |
X | g.18604178T>G | CA412360138 | CDKL5 | c.1254T>G (p.Asp418Glu) c.1203T>G (p.Asp401Glu) c.1122T>G (p.Asp374Glu) n.1506T>G | |
X | g.18604179T>A | CA412360141 | CDKL5 | c.1255T>A (p.Phe419Ile) c.1204T>A (p.Phe402Ile) c.1123T>A (p.Phe375Ile) n.1507T>A | |
X | g.18604179T>C | CA412360143 | CDKL5 | c.1255T>C (p.Phe419Leu) c.1204T>C (p.Phe402Leu) c.1123T>C (p.Phe375Leu) n.1507T>C | dbSNP gnomAD v2 |
X | g.18604179T>G | CA412360145 | CDKL5 | c.1255T>G (p.Phe419Val) c.1204T>G (p.Phe402Val) c.1123T>G (p.Phe375Val) n.1507T>G | |
X | g.18604179T= | CA2417973935 | CDKL5 | c.1255T= (p.Phe419=) c.1204T= (p.Phe402=) c.1123T= (p.Phe375=) n.1507T= | |
X | g.18604180T>A | CA412360147 | CDKL5 | c.1256T>A (p.Phe419Tyr) c.1205T>A (p.Phe402Tyr) c.1124T>A (p.Phe375Tyr) n.1508T>A | |
X | g.18604180T>C | CA412360148 | CDKL5 | c.1256T>C (p.Phe419Ser) c.1205T>C (p.Phe402Ser) c.1124T>C (p.Phe375Ser) n.1508T>C | |
X | g.18604180T>G | CA412360150 | CDKL5 | c.1256T>G (p.Phe419Cys) c.1205T>G (p.Phe402Cys) c.1124T>G (p.Phe375Cys) n.1508T>G | |
X | g.18604181T>A | CA412360155 | CDKL5 | c.1257T>A (p.Phe419Leu) c.1206T>A (p.Phe402Leu) c.1125T>A (p.Phe375Leu) n.1509T>A | |
X | g.18604181T>C | CA515627705 | CDKL5 | c.1257T>C (p.Phe419=) c.1206T>C (p.Phe402=) c.1125T>C (p.Phe375=) n.1509T>C | |
X | g.18604181T>G | CA412360153 | CDKL5 | c.1257T>G (p.Phe419Leu) c.1206T>G (p.Phe402Leu) c.1125T>G (p.Phe375Leu) n.1509T>G | |
X | g.18604182A>C | CA412360157 | CDKL5 | c.1258A>C (p.Asn420His) c.1207A>C (p.Asn403His) c.1126A>C (p.Asn376His) n.1510A>C | |
X | g.18604182A>G | CA412360159 | CDKL5 | c.1258A>G (p.Asn420Asp) c.1207A>G (p.Asn403Asp) c.1126A>G (p.Asn376Asp) n.1510A>G | |
X | g.18604182A>T | CA412360161 | CDKL5 | c.1258A>T (p.Asn420Tyr) c.1207A>T (p.Asn403Tyr) c.1126A>T (p.Asn376Tyr) n.1510A>T | |
X | g.18604183A>C | CA412360163 | CDKL5 | c.1259A>C (p.Asn420Thr) c.1208A>C (p.Asn403Thr) c.1127A>C (p.Asn376Thr) n.1511A>C | |
X | g.18604183A>G | CA412360164 | CDKL5 | c.1259A>G (p.Asn420Ser) c.1208A>G (p.Asn403Ser) c.1127A>G (p.Asn376Ser) n.1511A>G | gnomAD v4 |
X | g.18604183A>T | CA412360166 | CDKL5 | c.1259A>T (p.Asn420Ile) c.1208A>T (p.Asn403Ile) c.1127A>T (p.Asn376Ile) n.1511A>T | |
X | g.18604184T>A | CA412360168 | CDKL5 | c.1260T>A (p.Asn420Lys) c.1209T>A (p.Asn403Lys) c.1128T>A (p.Asn376Lys) n.1512T>A | |
X | g.18604184T>C | CA515627707 | CDKL5 | c.1260T>C (p.Asn420=) c.1209T>C (p.Asn403=) c.1128T>C (p.Asn376=) n.1512T>C | |
X | g.18604184T>G | CA412360169 | CDKL5 | c.1260T>G (p.Asn420Lys) c.1209T>G (p.Asn403Lys) c.1128T>G (p.Asn376Lys) n.1512T>G | |
X | g.18604185A>C | CA412360172 | CDKL5 | c.1261A>C (p.Ile421Leu) c.1210A>C (p.Ile404Leu) c.1129A>C (p.Ile377Leu) n.1513A>C | |
X | g.18604185A>G | CA412360175 | CDKL5 | c.1261A>G (p.Ile421Val) c.1210A>G (p.Ile404Val) c.1129A>G (p.Ile377Val) n.1513A>G | |
X | g.18604185A>T | CA412360173 | CDKL5 | c.1261A>T (p.Ile421Phe) c.1210A>T (p.Ile404Phe) c.1129A>T (p.Ile377Phe) n.1513A>T | |
X | g.18604186T>A | CA412360177 | CDKL5 | c.1262T>A (p.Ile421Asn) c.1211T>A (p.Ile404Asn) c.1130T>A (p.Ile377Asn) n.1514T>A | |
X | g.18604186T>C | CA412360178 | CDKL5 | c.1262T>C (p.Ile421Thr) c.1211T>C (p.Ile404Thr) c.1130T>C (p.Ile377Thr) n.1514T>C | dbSNP |
X | g.18604186T>G | CA412360180 | CDKL5 | c.1262T>G (p.Ile421Ser) c.1211T>G (p.Ile404Ser) c.1130T>G (p.Ile377Ser) n.1514T>G | |
X | g.18604186T= | CA2417973937 | CDKL5 | c.1262T= (p.Ile421=) c.1211T= (p.Ile404=) c.1130T= (p.Ile377=) n.1514T= | |
X | g.18604187T>A | CA515627712 | CDKL5 | c.1263T>A (p.Ile421=) c.1212T>A (p.Ile404=) c.1131T>A (p.Ile377=) n.1515T>A | |
X | g.18604187T>C | CA515627713 | CDKL5 | c.1263T>C (p.Ile421=) c.1212T>C (p.Ile404=) c.1131T>C (p.Ile377=) n.1515T>C | |
X | g.18604187T>G | CA412360182 | CDKL5 | c.1263T>G (p.Ile421Met) c.1212T>G (p.Ile404Met) c.1131T>G (p.Ile377Met) n.1515T>G | |
X | g.18604188G>A | CA412360184 | CDKL5 | c.1264G>A (p.Asp422Asn) c.1213G>A (p.Asp405Asn) c.1132G>A (p.Asp378Asn) n.1516G>A | COSMIC |
X | g.18604188G>C | CA412360188 | CDKL5 | c.1264G>C (p.Asp422His) c.1213G>C (p.Asp405His) c.1132G>C (p.Asp378His) n.1516G>C | |
X | g.18604188G>T | CA412360186 | CDKL5 | c.1264G>T (p.Asp422Tyr) c.1213G>T (p.Asp405Tyr) c.1132G>T (p.Asp378Tyr) n.1516G>T | |
X | g.18604189A>C | CA412360191 | CDKL5 | c.1265A>C (p.Asp422Ala) c.1214A>C (p.Asp405Ala) c.1133A>C (p.Asp378Ala) n.1517A>C | |
X | g.18604189A>G | CA412360192 | CDKL5 | c.1265A>G (p.Asp422Gly) c.1214A>G (p.Asp405Gly) c.1133A>G (p.Asp378Gly) n.1517A>G | |
X | g.18604189A>T | CA412360193 | CDKL5 | c.1265A>T (p.Asp422Val) c.1214A>T (p.Asp405Val) c.1133A>T (p.Asp378Val) n.1517A>T | |
X | g.18604190C>A | CA199421 | CDKL5 | c.1266C>A (p.Asp422Glu) c.1215C>A (p.Asp405Glu) c.1134C>A (p.Asp378Glu) n.1518C>A | ClinVar dbSNP |
X | g.18604190C= | CA2417973941 | CDKL5 | c.1266C= (p.Asp422=) c.1215C= (p.Asp405=) c.1134C= (p.Asp378=) n.1518C= | |
X | g.18604190C>G | CA412360197 | CDKL5 | c.1266C>G (p.Asp422Glu) c.1215C>G (p.Asp405Glu) c.1134C>G (p.Asp378Glu) n.1518C>G | |
X | g.18604190C>T | CA10360370 | CDKL5 | c.1266C>T (p.Asp422=) c.1215C>T (p.Asp405=) c.1134C>T (p.Asp378=) n.1518C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604191C>A | CA412360201 | CDKL5 | c.1267C>A (p.Pro423Thr) c.1216C>A (p.Pro406Thr) c.1135C>A (p.Pro379Thr) n.1519C>A | |
X | g.18604191C= | CA2417973943 | CDKL5 | c.1267C= (p.Pro423=) c.1216C= (p.Pro406=) c.1135C= (p.Pro379=) n.1519C= | |
X | g.18604191C>G | CA412360202 | CDKL5 | c.1267C>G (p.Pro423Ala) c.1216C>G (p.Pro406Ala) c.1135C>G (p.Pro379Ala) n.1519C>G | |
X | g.18604191C>T | CA412360203 | CDKL5 | c.1267C>T (p.Pro423Ser) c.1216C>T (p.Pro406Ser) c.1135C>T (p.Pro379Ser) n.1519C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604192C>A | CA412360206 | CDKL5 | c.1268C>A (p.Pro423Gln) c.1217C>A (p.Pro406Gln) c.1136C>A (p.Pro379Gln) n.1520C>A | |
X | g.18604192C>G | CA412360208 | CDKL5 | c.1268C>G (p.Pro423Arg) c.1217C>G (p.Pro406Arg) c.1136C>G (p.Pro379Arg) n.1520C>G | |
X | g.18604192C>T | CA412360210 | CDKL5 | c.1268C>T (p.Pro423Leu) c.1217C>T (p.Pro406Leu) c.1136C>T (p.Pro379Leu) n.1520C>T |