Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
Xg.18604199T>ACA515627735CDKL5c.1275T>A (p.Pro425=)
c.1224T>A (p.Pro408=)
c.1143T>A (p.Pro381=)
n.1527T>A
Xg.18604199T>CCA515627736CDKL5c.1275T>C (p.Pro425=)
c.1224T>C (p.Pro408=)
c.1143T>C (p.Pro381=)
n.1527T>C
Xg.18604199T>GCA515627737CDKL5c.1275T>G (p.Pro425=)
c.1224T>G (p.Pro408=)
c.1143T>G (p.Pro381=)
n.1527T>G
Xg.18604200T>ACA412360239CDKL5c.1276T>A (p.Ser426Thr)
c.1225T>A (p.Ser409Thr)
c.1144T>A (p.Ser382Thr)
n.1528T>A
Xg.18604200T>CCA412360241CDKL5c.1276T>C (p.Ser426Pro)
c.1225T>C (p.Ser409Pro)
c.1144T>C (p.Ser382Pro)
n.1528T>C
Xg.18604200T>GCA412360242CDKL5c.1276T>G (p.Ser426Ala)
c.1225T>G (p.Ser409Ala)
c.1144T>G (p.Ser382Ala)
n.1528T>G
Xg.18604201C>ACA412360247CDKL5c.1277C>A (p.Ser426Ter)
c.1226C>A (p.Ser409Ter)
c.1145C>A (p.Ser382Ter)
n.1529C>A
Xg.18604201C>GCA412360245CDKL5c.1277C>G (p.Ser426Ter)
c.1226C>G (p.Ser409Ter)
c.1145C>G (p.Ser382Ter)
n.1529C>G
Xg.18604201C>TCA412360246CDKL5c.1277C>T (p.Ser426Leu)
c.1226C>T (p.Ser409Leu)
c.1145C>T (p.Ser382Leu)
n.1529C>T
Xg.18604202A=CA2417973954CDKL5c.1278A= (p.Ser426=)
c.1227A= (p.Ser409=)
c.1146A= (p.Ser382=)
n.1530A=
Xg.18604202A>CCA170442CDKL5c.1278A>C (p.Ser426=)
c.1227A>C (p.Ser409=)
c.1146A>C (p.Ser382=)
n.1530A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604202A>GCA515627742CDKL5c.1278A>G (p.Ser426=)
c.1227A>G (p.Ser409=)
c.1146A>G (p.Ser382=)
n.1530A>G
Xg.18604202A>TCA515627743CDKL5c.1278A>T (p.Ser426=)
c.1227A>T (p.Ser409=)
c.1146A>T (p.Ser382=)
n.1530A>T
Xg.18604203G>ACA412360250CDKL5c.1279G>A (p.Glu427Lys)
c.1228G>A (p.Glu410Lys)
c.1147G>A (p.Glu383Lys)
n.1531G>A
Xg.18604203G>CCA412360251CDKL5c.1279G>C (p.Glu427Gln)
c.1228G>C (p.Glu410Gln)
c.1147G>C (p.Glu383Gln)
n.1531G>C
Xg.18604203G>TCA412360253CDKL5c.1279G>T (p.Glu427Ter)
c.1228G>T (p.Glu410Ter)
c.1147G>T (p.Glu383Ter)
n.1531G>T
Xg.18604204A>CCA412360255CDKL5c.1280A>C (p.Glu427Ala)
c.1229A>C (p.Glu410Ala)
c.1148A>C (p.Glu383Ala)
n.1532A>C
Xg.18604204A>GCA412360257CDKL5c.1280A>G (p.Glu427Gly)
c.1229A>G (p.Glu410Gly)
c.1148A>G (p.Glu383Gly)
n.1532A>G
Xg.18604204A>TCA412360259CDKL5c.1280A>T (p.Glu427Val)
c.1229A>T (p.Glu410Val)
c.1148A>T (p.Glu383Val)
n.1532A>T
Xg.18604205A>CCA412360261CDKL5c.1281A>C (p.Glu427Asp)
c.1230A>C (p.Glu410Asp)
c.1149A>C (p.Glu383Asp)
n.1533A>C
Xg.18604205A>GCA515627748CDKL5c.1281A>G (p.Glu427=)
c.1230A>G (p.Glu410=)
c.1149A>G (p.Glu383=)
n.1533A>G
Xg.18604205A>TCA412360262CDKL5c.1281A>T (p.Glu427Asp)
c.1230A>T (p.Glu410Asp)
c.1149A>T (p.Glu383Asp)
n.1533A>T
Xg.18604206G>ACA412360264CDKL5c.1282G>A (p.Gly428Ser)
c.1231G>A (p.Gly411Ser)
c.1150G>A (p.Gly384Ser)
n.1534G>A
Xg.18604206G>CCA412360266CDKL5c.1282G>C (p.Gly428Arg)
c.1231G>C (p.Gly411Arg)
c.1150G>C (p.Gly384Arg)
n.1534G>C
Xg.18604206G>TCA412360268CDKL5c.1282G>T (p.Gly428Cys)
c.1231G>T (p.Gly411Cys)
c.1150G>T (p.Gly384Cys)
n.1534G>T
Xg.18604207G>ACA412360269CDKL5c.1283G>A (p.Gly428Asp)
c.1232G>A (p.Gly411Asp)
c.1151G>A (p.Gly384Asp)
n.1535G>A
 COSMIC
Xg.18604207G>CCA412360273CDKL5c.1283G>C (p.Gly428Ala)
c.1232G>C (p.Gly411Ala)
c.1151G>C (p.Gly384Ala)
n.1535G>C
 gnomAD v4
Xg.18604207G>TCA412360271CDKL5c.1283G>T (p.Gly428Val)
c.1232G>T (p.Gly411Val)
c.1151G>T (p.Gly384Val)
n.1535G>T
Xg.18604208C>ACA515627756CDKL5c.1284C>A (p.Gly428=)
c.1233C>A (p.Gly411=)
c.1152C>A (p.Gly384=)
n.1536C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604208C=CA2417973961CDKL5c.1284C= (p.Gly428=)
c.1233C= (p.Gly411=)
c.1152C= (p.Gly384=)
n.1536C=
Xg.18604208C>GCA515627755CDKL5c.1284C>G (p.Gly428=)
c.1233C>G (p.Gly411=)
c.1152C>G (p.Gly384=)
n.1536C>G
Xg.18604208C>TCA515627753CDKL5c.1284C>T (p.Gly428=)
c.1233C>T (p.Gly411=)
c.1152C>T (p.Gly384=)
n.1536C>T
 gnomAD v4 COSMIC
Xg.18604209C>ACA412360274CDKL5c.1285C>A (p.Pro429Thr)
c.1234C>A (p.Pro412Thr)
c.1153C>A (p.Pro385Thr)
n.1537C>A
Xg.18604209C>GCA412360277CDKL5c.1285C>G (p.Pro429Ala)
c.1234C>G (p.Pro412Ala)
c.1153C>G (p.Pro385Ala)
n.1537C>G
Xg.18604209C>TCA412360275CDKL5c.1285C>T (p.Pro429Ser)
c.1234C>T (p.Pro412Ser)
c.1153C>T (p.Pro385Ser)
n.1537C>T
 gnomAD v4
Xg.18604210C>ACA412360279CDKL5c.1286C>A (p.Pro429Gln)
c.1235C>A (p.Pro412Gln)
c.1154C>A (p.Pro385Gln)
n.1538C>A
Xg.18604210C=CA2417973965CDKL5c.1286C= (p.Pro429=)
c.1235C= (p.Pro412=)
c.1154C= (p.Pro385=)
n.1538C=
Xg.18604210C>GCA412360280CDKL5c.1286C>G (p.Pro429Arg)
c.1235C>G (p.Pro412Arg)
c.1154C>G (p.Pro385Arg)
n.1538C>G
Xg.18604210C>TCA326987758CDKL5c.1286C>T (p.Pro429Leu)
c.1235C>T (p.Pro412Leu)
c.1154C>T (p.Pro385Leu)
n.1538C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18604211A>CCA515627760CDKL5c.1287A>C (p.Pro429=)
c.1236A>C (p.Pro412=)
c.1155A>C (p.Pro385=)
n.1539A>C
Xg.18604211A>GCA515627762CDKL5c.1287A>G (p.Pro429=)
c.1236A>G (p.Pro412=)
c.1155A>G (p.Pro385=)
n.1539A>G
 ClinVar dbSNP
Xg.18604211A>TCA515627761CDKL5c.1287A>T (p.Pro429=)
c.1236A>T (p.Pro412=)
c.1155A>T (p.Pro385=)
n.1539A>T
Xg.18604211dupCA2740092028CDKL5c.1287dup (p.Gly430ArgfsTer?)
c.1236dup (p.Gly413ArgfsTer?)
c.1155dup (p.Gly386ArgfsTer?)
n.1539dup
 ClinVar
Xg.18604212G>ACA412360284CDKL5c.1288G>A (p.Gly430Arg)
c.1237G>A (p.Gly413Arg)
c.1156G>A (p.Gly386Arg)
n.1540G>A
 ClinVar
Xg.18604212G>CCA412360285CDKL5c.1288G>C (p.Gly430Arg)
c.1237G>C (p.Gly413Arg)
c.1156G>C (p.Gly386Arg)
n.1540G>C
Xg.18604212G>TCA412360287CDKL5c.1288G>T (p.Gly430Trp)
c.1237G>T (p.Gly413Trp)
c.1156G>T (p.Gly386Trp)
n.1540G>T
Xg.18604213G>ACA412360290CDKL5c.1289G>A (p.Gly430Glu)
c.1238G>A (p.Gly413Glu)
c.1157G>A (p.Gly386Glu)
n.1541G>A
 dbSNP
Xg.18604213G>CCA412360291CDKL5c.1289G>C (p.Gly430Ala)
c.1238G>C (p.Gly413Ala)
c.1157G>C (p.Gly386Ala)
n.1541G>C
 gnomAD v4
Xg.18604213G=CA2417973972CDKL5c.1289G= (p.Gly430=)
c.1238G= (p.Gly413=)
c.1157G= (p.Gly386=)
n.1541G=
Xg.18604213G>TCA412360293CDKL5c.1289G>T (p.Gly430Val)
c.1238G>T (p.Gly413Val)
c.1157G>T (p.Gly386Val)
n.1541G>T
Xg.18604214G>ACA515627769CDKL5c.1290G>A (p.Gly430=)
c.1239G>A (p.Gly413=)
c.1158G>A (p.Gly386=)
n.1542G>A
Xg.18604214G>CCA515627770CDKL5c.1290G>C (p.Gly430=)
c.1239G>C (p.Gly413=)
c.1158G>C (p.Gly386=)
n.1542G>C
Xg.18604214G>TCA515627772CDKL5c.1290G>T (p.Gly430=)
c.1239G>T (p.Gly413=)
c.1158G>T (p.Gly386=)
n.1542G>T
Xg.18604215A>CCA412360295CDKL5c.1291A>C (p.Thr431Pro)
c.1240A>C (p.Thr414Pro)
c.1159A>C (p.Thr387Pro)
n.1543A>C
Xg.18604215A>GCA412360297CDKL5c.1291A>G (p.Thr431Ala)
c.1240A>G (p.Thr414Ala)
c.1159A>G (p.Thr387Ala)
n.1543A>G
 ClinVar
Xg.18604215A>TCA412360299CDKL5c.1291A>T (p.Thr431Ser)
c.1240A>T (p.Thr414Ser)
c.1159A>T (p.Thr387Ser)
n.1543A>T
Xg.18604216_18604217delCA2695231310CDKL5c.1292_1293del (p.Thr431LysfsTer?)
c.1241_1242del (p.Thr414LysfsTer?)
c.1160_1161del (p.Thr387LysfsTer?)
n.1544_1545del
Xg.18604216C>ACA412360305CDKL5c.1292C>A (p.Thr431Lys)
c.1241C>A (p.Thr414Lys)
c.1160C>A (p.Thr387Lys)
n.1544C>A
Xg.18604216C>GCA412360301CDKL5c.1292C>G (p.Thr431Arg)
c.1241C>G (p.Thr414Arg)
c.1160C>G (p.Thr387Arg)
n.1544C>G
Xg.18604216C>TCA412360303CDKL5c.1292C>T (p.Thr431Ile)
c.1241C>T (p.Thr414Ile)
c.1160C>T (p.Thr387Ile)
n.1544C>T
Xg.18604217A>CCA515627776CDKL5c.1293A>C (p.Thr431=)
c.1242A>C (p.Thr414=)
c.1161A>C (p.Thr387=)
n.1545A>C
Xg.18604217A>GCA515627778CDKL5c.1293A>G (p.Thr431=)
c.1242A>G (p.Thr414=)
c.1161A>G (p.Thr387=)
n.1545A>G
Xg.18604217A>TCA515627780CDKL5c.1293A>T (p.Thr431=)
c.1242A>T (p.Thr414=)
c.1161A>T (p.Thr387=)
n.1545A>T
Xg.18604219delCA2695231311CDKL5c.1295del (p.Lys432SerfsTer?)
c.1244del (p.Lys415SerfsTer?)
c.1163del (p.Lys388SerfsTer?)
n.1547del
Xg.18604218A=CA2417973978CDKL5c.1294A= (p.Lys432=)
c.1243A= (p.Lys415=)
c.1162A= (p.Lys388=)
n.1546A=
Xg.18604218A>CCA412360307CDKL5c.1294A>C (p.Lys432Gln)
c.1243A>C (p.Lys415Gln)
c.1162A>C (p.Lys388Gln)
n.1546A>C
Xg.18604218A>GCA412360308CDKL5c.1294A>G (p.Lys432Glu)
c.1243A>G (p.Lys415Glu)
c.1162A>G (p.Lys388Glu)
n.1546A>G
 dbSNP gnomAD v4
Xg.18604218A>TCA412360310CDKL5c.1294A>T (p.Lys432Ter)
c.1243A>T (p.Lys415Ter)
c.1162A>T (p.Lys388Ter)
n.1546A>T
Xg.18604218_18604221delinsAAGTCA2417973977CDKL5c.1294_1297delinsAAGT (p.Lys432=)
c.1243_1246delinsAAGT (p.Lys415=)
c.1162_1165delinsAAGT (p.Lys388=)
n.1546_1549delinsAAGT
Xg.18604219A>CCA412360312CDKL5c.1295A>C (p.Lys432Thr)
c.1244A>C (p.Lys415Thr)
c.1163A>C (p.Lys388Thr)
n.1547A>C
Xg.18604219A>GCA412360313CDKL5c.1295A>G (p.Lys432Arg)
c.1244A>G (p.Lys415Arg)
c.1163A>G (p.Lys388Arg)
n.1547A>G
Xg.18604219A>TCA412360316CDKL5c.1295A>T (p.Lys432Met)
c.1244A>T (p.Lys415Met)
c.1163A>T (p.Lys388Met)
n.1547A>T
Xg.18604220_18604222delCA645373290CDKL5c.1296_1298del (p.Lys432_Tyr433delinsAsn)
c.1245_1247del (p.Lys415_Tyr416delinsAsn)
c.1164_1166del (p.Lys388_Tyr389delinsAsn)
n.1548_1550del
 ClinVar dbSNP
Xg.18604220G>ACA515627783CDKL5c.1296G>A (p.Lys432=)
c.1245G>A (p.Lys415=)
c.1164G>A (p.Lys388=)
n.1548G>A
Xg.18604220G>CCA412360318CDKL5c.1296G>C (p.Lys432Asn)
c.1245G>C (p.Lys415Asn)
c.1164G>C (p.Lys388Asn)
n.1548G>C
Xg.18604220G>TCA412360319CDKL5c.1296G>T (p.Lys432Asn)
c.1245G>T (p.Lys415Asn)
c.1164G>T (p.Lys388Asn)
n.1548G>T
Xg.18604221T>ACA412360320CDKL5c.1297T>A (p.Tyr433Asn)
c.1246T>A (p.Tyr416Asn)
c.1165T>A (p.Tyr389Asn)
n.1549T>A
Xg.18604221T>CCA10360371CDKL5c.1297T>C (p.Tyr433His)
c.1246T>C (p.Tyr416His)
c.1165T>C (p.Tyr389His)
n.1549T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604221T>GCA412360323CDKL5c.1297T>G (p.Tyr433Asp)
c.1246T>G (p.Tyr416Asp)
c.1165T>G (p.Tyr389Asp)
n.1549T>G
Xg.18604221T=CA2417973985CDKL5c.1297T= (p.Tyr433=)
c.1246T= (p.Tyr416=)
c.1165T= (p.Tyr389=)
n.1549T=
Xg.18604222A>CCA412360330CDKL5c.1298A>C (p.Tyr433Ser)
c.1247A>C (p.Tyr416Ser)
c.1166A>C (p.Tyr389Ser)
n.1550A>C
Xg.18604222A>GCA412360327CDKL5c.1298A>G (p.Tyr433Cys)
c.1247A>G (p.Tyr416Cys)
c.1166A>G (p.Tyr389Cys)
n.1550A>G
Xg.18604222A>TCA412360325CDKL5c.1298A>T (p.Tyr433Phe)
c.1247A>T (p.Tyr416Phe)
c.1166A>T (p.Tyr389Phe)
n.1550A>T
 COSMIC
Xg.18604223C>ACA412360332CDKL5c.1299C>A (p.Tyr433Ter)
c.1248C>A (p.Tyr416Ter)
c.1167C>A (p.Tyr389Ter)
n.1551C>A
Xg.18604223C>GCA412360334CDKL5c.1299C>G (p.Tyr433Ter)
c.1248C>G (p.Tyr416Ter)
c.1167C>G (p.Tyr389Ter)
n.1551C>G
Xg.18604223C>TCA515627792CDKL5c.1299C>T (p.Tyr433=)
c.1248C>T (p.Tyr416=)
c.1167C>T (p.Tyr389=)
n.1551C>T
 gnomAD v4
Xg.18604224C>ACA412360336CDKL5c.1300C>A (p.Leu434Ile)
c.1249C>A (p.Leu417Ile)
c.1168C>A (p.Leu390Ile)
n.1552C>A
Xg.18604224C>GCA412360337CDKL5c.1300C>G (p.Leu434Val)
c.1249C>G (p.Leu417Val)
c.1168C>G (p.Leu390Val)
n.1552C>G
Xg.18604224C>TCA412360339CDKL5c.1300C>T (p.Leu434Phe)
c.1249C>T (p.Leu417Phe)
c.1168C>T (p.Leu390Phe)
n.1552C>T
 ClinVar
Xg.18604225T>ACA412360342CDKL5c.1301T>A (p.Leu434His)
c.1250T>A (p.Leu417His)
c.1169T>A (p.Leu390His)
n.1553T>A
Xg.18604225T>CCA412360344CDKL5c.1301T>C (p.Leu434Pro)
c.1250T>C (p.Leu417Pro)
c.1169T>C (p.Leu390Pro)
n.1553T>C
Xg.18604225T>GCA412360346CDKL5c.1301T>G (p.Leu434Arg)
c.1250T>G (p.Leu417Arg)
c.1169T>G (p.Leu390Arg)
n.1553T>G
Xg.18604226C>ACA515627797CDKL5c.1302C>A (p.Leu434=)
c.1251C>A (p.Leu417=)
c.1170C>A (p.Leu390=)
n.1554C>A
 dbSNP
Xg.18604226C>GCA515627798CDKL5c.1302C>G (p.Leu434=)
c.1251C>G (p.Leu417=)
c.1170C>G (p.Leu390=)
n.1554C>G
Xg.18604226C>TCA515627796CDKL5c.1302C>T (p.Leu434=)
c.1251C>T (p.Leu417=)
c.1170C>T (p.Leu390=)
n.1554C>T
Xg.18604227A>CCA412360348CDKL5c.1303A>C (p.Lys435Gln)
c.1252A>C (p.Lys418Gln)
c.1171A>C (p.Lys391Gln)
n.1555A>C
Xg.18604227A>GCA412360350CDKL5c.1303A>G (p.Lys435Glu)
c.1252A>G (p.Lys418Glu)
c.1171A>G (p.Lys391Glu)
n.1555A>G
Xg.18604227A>TCA412360352CDKL5c.1303A>T (p.Lys435Ter)
c.1252A>T (p.Lys418Ter)
c.1171A>T (p.Lys391Ter)
n.1555A>T
Xg.18604228A=CA2417973988CDKL5c.1304A= (p.Lys435=)
c.1253A= (p.Lys418=)
c.1172A= (p.Lys391=)
n.1556A=
Xg.18604228A>CCA10360372CDKL5c.1304A>C (p.Lys435Thr)
c.1253A>C (p.Lys418Thr)
c.1172A>C (p.Lys391Thr)
n.1556A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604228A>GCA412360354CDKL5c.1304A>G (p.Lys435Arg)
c.1253A>G (p.Lys418Arg)
c.1172A>G (p.Lys391Arg)
n.1556A>G
Xg.18604228A>TCA412360356CDKL5c.1304A>T (p.Lys435Met)
c.1253A>T (p.Lys418Met)
c.1172A>T (p.Lys391Met)
n.1556A>T
Xg.18604229G>ACA515627803CDKL5c.1305G>A (p.Lys435=)
c.1254G>A (p.Lys418=)
c.1173G>A (p.Lys391=)
n.1557G>A
Xg.18604229G>CCA412360358CDKL5c.1305G>C (p.Lys435Asn)
c.1254G>C (p.Lys418Asn)
c.1173G>C (p.Lys391Asn)
n.1557G>C
Xg.18604229G>TCA412360360CDKL5c.1305G>T (p.Lys435Asn)
c.1254G>T (p.Lys418Asn)
c.1173G>T (p.Lys391Asn)
n.1557G>T
Xg.18604230T>ACA412360362CDKL5c.1306T>A (p.Ser436Thr)
c.1255T>A (p.Ser419Thr)
c.1174T>A (p.Ser392Thr)
n.1558T>A
Xg.18604230T>CCA412360364CDKL5c.1306T>C (p.Ser436Pro)
c.1255T>C (p.Ser419Pro)
c.1174T>C (p.Ser392Pro)
n.1558T>C
Xg.18604230T>GCA412360366CDKL5c.1306T>G (p.Ser436Ala)
c.1255T>G (p.Ser419Ala)
c.1174T>G (p.Ser392Ala)
n.1558T>G
Xg.18604231C>ACA412360368CDKL5c.1307C>A (p.Ser436Ter)
c.1256C>A (p.Ser419Ter)
c.1175C>A (p.Ser392Ter)
n.1559C>A
Xg.18604231C>GCA412360369CDKL5c.1307C>G (p.Ser436Ter)
c.1256C>G (p.Ser419Ter)
c.1175C>G (p.Ser392Ter)
n.1559C>G
Xg.18604231C>TCA412360371CDKL5c.1307C>T (p.Ser436Leu)
c.1256C>T (p.Ser419Leu)
c.1175C>T (p.Ser392Leu)
n.1559C>T
Xg.18604232A>CCA515627810CDKL5c.1308A>C (p.Ser436=)
c.1257A>C (p.Ser419=)
c.1176A>C (p.Ser392=)
n.1560A>C
Xg.18604232A>GCA515627808CDKL5c.1308A>G (p.Ser436=)
c.1257A>G (p.Ser419=)
c.1176A>G (p.Ser392=)
n.1560A>G
Xg.18604232A>TCA515627809CDKL5c.1308A>T (p.Ser436=)
c.1257A>T (p.Ser419=)
c.1176A>T (p.Ser392=)
n.1560A>T
Xg.18604233A>CCA412360373CDKL5c.1309A>C (p.Asn437His)
c.1258A>C (p.Asn420His)
c.1177A>C (p.Asn393His)
n.1561A>C
Xg.18604233A>GCA412360374CDKL5c.1309A>G (p.Asn437Asp)
c.1258A>G (p.Asn420Asp)
c.1177A>G (p.Asn393Asp)
n.1561A>G
Xg.18604233A>TCA412360375CDKL5c.1309A>T (p.Asn437Tyr)
c.1258A>T (p.Asn420Tyr)
c.1177A>T (p.Asn393Tyr)
n.1561A>T
Xg.18604234A=CA2417973992CDKL5c.1310A= (p.Asn437=)
c.1259A= (p.Asn420=)
c.1178A= (p.Asn393=)
n.1562A=
Xg.18604234A>CCA412360378CDKL5c.1310A>C (p.Asn437Thr)
c.1259A>C (p.Asn420Thr)
c.1178A>C (p.Asn393Thr)
n.1562A>C
Xg.18604234A>GCA412360379CDKL5c.1310A>G (p.Asn437Ser)
c.1259A>G (p.Asn420Ser)
c.1178A>G (p.Asn393Ser)
n.1562A>G
Xg.18604234A>TCA412360381CDKL5c.1310A>T (p.Asn437Ile)
c.1259A>T (p.Asn420Ile)
c.1178A>T (p.Asn393Ile)
n.1562A>T
Xg.18604235C>ACA412360385CDKL5c.1311C>A (p.Asn437Lys)
c.1260C>A (p.Asn420Lys)
c.1179C>A (p.Asn393Lys)
n.1563C>A
Xg.18604235C>GCA412360383CDKL5c.1311C>G (p.Asn437Lys)
c.1260C>G (p.Asn420Lys)
c.1179C>G (p.Asn393Lys)
n.1563C>G
Xg.18604235C>TCA515627813CDKL5c.1311C>T (p.Asn437=)
c.1260C>T (p.Asn420=)
c.1179C>T (p.Asn393=)
n.1563C>T
 ClinVar gnomAD v4
Xg.18604235_18604236insCCCAACCAAACACACCCCA2819902092CDKL5c.1311_1312insCCCAACCAAACACACCC (p.Ser438ProfsTer?)
c.1260_1261insCCCAACCAAACACACCC (p.Ser421ProfsTer?)
c.1179_1180insCCCAACCAAACACACCC (p.Ser394ProfsTer?)
n.1563_1564insCCCAACCAAACACACCC
Xg.18604235dupCA170444CDKL5c.1311dup (p.Ser438GlnfsTer25)
c.1260dup (p.Ser421GlnfsTer25)
c.1179dup (p.Ser394GlnfsTer25)
n.1563dup
 ClinVar dbSNP
Xg.18604238_18604240delCA2693222669CDKL5c.1314_1316del (p.Ser438del)
c.1263_1265del (p.Ser421del)
c.1182_1184del (p.Ser394del)
n.1566_1568del
 gnomAD v4
Xg.18604236A=CA2417973998CDKL5c.1312A= (p.Ser438=)
c.1261A= (p.Ser421=)
c.1180A= (p.Ser394=)
n.1564A=
Xg.18604236A>CCA412360387CDKL5c.1312A>C (p.Ser438Arg)
c.1261A>C (p.Ser421Arg)
c.1180A>C (p.Ser394Arg)
n.1564A>C
Xg.18604236A>GCA412360389CDKL5c.1312A>G (p.Ser438Gly)
c.1261A>G (p.Ser421Gly)
c.1180A>G (p.Ser394Gly)
n.1564A>G
 dbSNP
Xg.18604236A>TCA412360388CDKL5c.1312A>T (p.Ser438Cys)
c.1261A>T (p.Ser421Cys)
c.1180A>T (p.Ser394Cys)
n.1564A>T
Xg.18604237G>ACA412360392CDKL5c.1313G>A (p.Ser438Asn)
c.1262G>A (p.Ser421Asn)
c.1181G>A (p.Ser394Asn)
n.1565G>A
 COSMIC
Xg.18604237G>CCA412360396CDKL5c.1313G>C (p.Ser438Thr)
c.1262G>C (p.Ser421Thr)
c.1181G>C (p.Ser394Thr)
n.1565G>C
Xg.18604237G>TCA412360394CDKL5c.1313G>T (p.Ser438Ile)
c.1262G>T (p.Ser421Ile)
c.1181G>T (p.Ser394Ile)
n.1565G>T
Xg.18604238C>ACA412360398CDKL5c.1314C>A (p.Ser438Arg)
c.1263C>A (p.Ser421Arg)
c.1182C>A (p.Ser394Arg)
n.1566C>A
 ClinVar
Xg.18604238C>GCA412360399CDKL5c.1314C>G (p.Ser438Arg)
c.1263C>G (p.Ser421Arg)
c.1182C>G (p.Ser394Arg)
n.1566C>G
Xg.18604238C>TCA515627815CDKL5c.1314C>T (p.Ser438=)
c.1263C>T (p.Ser421=)
c.1182C>T (p.Ser394=)
n.1566C>T
Xg.18604239A>CCA515627633CDKL5c.1315A>C (p.Arg439=)
c.1264A>C (p.Arg422=)
c.1183A>C (p.Arg395=)
n.1567A>C
Xg.18604239A>GCA412360401CDKL5c.1315A>G (p.Arg439Gly)
c.1264A>G (p.Arg422Gly)
c.1183A>G (p.Arg395Gly)
n.1567A>G
Xg.18604239A>TCA412360402CDKL5c.1315A>T (p.Arg439Ter)
c.1264A>T (p.Arg422Ter)
c.1183A>T (p.Arg395Ter)
n.1567A>T
Xg.18604240G>ACA412360404CDKL5c.1316G>A (p.Arg439Lys)
c.1265G>A (p.Arg422Lys)
c.1184G>A (p.Arg395Lys)
n.1568G>A
Xg.18604240G>CCA412360405CDKL5c.1316G>C (p.Arg439Thr)
c.1265G>C (p.Arg422Thr)
c.1184G>C (p.Arg395Thr)
n.1568G>C
Xg.18604240G>TCA412360406CDKL5c.1316G>T (p.Arg439Ile)
c.1265G>T (p.Arg422Ile)
c.1184G>T (p.Arg395Ile)
n.1568G>T
Xg.18604241A>CCA412360409CDKL5c.1317A>C (p.Arg439Ser)
c.1266A>C (p.Arg422Ser)
c.1185A>C (p.Arg395Ser)
n.1569A>C
Xg.18604241A>GCA515627644CDKL5c.1317A>G (p.Arg439=)
c.1266A>G (p.Arg422=)
c.1185A>G (p.Arg395=)
n.1569A>G
 ClinVar dbSNP
Xg.18604241A>TCA412360407CDKL5c.1317A>T (p.Arg439Ser)
c.1266A>T (p.Arg422Ser)
c.1185A>T (p.Arg395Ser)
n.1569A>T
Xg.18604242T>ACA412360410CDKL5c.1318T>A (p.Ser440Thr)
c.1267T>A (p.Ser423Thr)
c.1186T>A (p.Ser396Thr)
n.1570T>A
Xg.18604242T>CCA412360412CDKL5c.1318T>C (p.Ser440Pro)
c.1267T>C (p.Ser423Pro)
c.1186T>C (p.Ser396Pro)
n.1570T>C
Xg.18604242T>GCA412360413CDKL5c.1318T>G (p.Ser440Ala)
c.1267T>G (p.Ser423Ala)
c.1186T>G (p.Ser396Ala)
n.1570T>G
Xg.18604243C>ACA412360414CDKL5c.1319C>A (p.Ser440Tyr)
c.1268C>A (p.Ser423Tyr)
c.1187C>A (p.Ser396Tyr)
n.1571C>A
Xg.18604243C>GCA412360415CDKL5c.1319C>G (p.Ser440Cys)
c.1268C>G (p.Ser423Cys)
c.1187C>G (p.Ser396Cys)
n.1571C>G
Xg.18604243C>TCA412360417CDKL5c.1319C>T (p.Ser440Phe)
c.1268C>T (p.Ser423Phe)
c.1187C>T (p.Ser396Phe)
n.1571C>T
Xg.18604244T>ACA515627654CDKL5c.1320T>A (p.Ser440=)
c.1269T>A (p.Ser423=)
c.1188T>A (p.Ser396=)
n.1572T>A
Xg.18604244T>CCA515627655CDKL5c.1320T>C (p.Ser440=)
c.1269T>C (p.Ser423=)
c.1188T>C (p.Ser396=)
n.1572T>C
 dbSNP gnomAD v2
Xg.18604244T>GCA515627656CDKL5c.1320T>G (p.Ser440=)
c.1269T>G (p.Ser423=)
c.1188T>G (p.Ser396=)
n.1572T>G
Xg.18604244T=CA2417974001CDKL5c.1320T= (p.Ser440=)
c.1269T= (p.Ser423=)
c.1188T= (p.Ser396=)
n.1572T=
Xg.18604245C>ACA412360421CDKL5c.1321C>A (p.Gln441Lys)
c.1270C>A (p.Gln424Lys)
c.1189C>A (p.Gln397Lys)
n.1573C>A
Xg.18604245C>GCA412360419CDKL5c.1321C>G (p.Gln441Glu)
c.1270C>G (p.Gln424Glu)
c.1189C>G (p.Gln397Glu)
n.1573C>G
Xg.18604245C>TCA412360420CDKL5c.1321C>T (p.Gln441Ter)
c.1270C>T (p.Gln424Ter)
c.1189C>T (p.Gln397Ter)
n.1573C>T
 ClinVar
Xg.18604246A>CCA412360423CDKL5c.1322A>C (p.Gln441Pro)
c.1271A>C (p.Gln424Pro)
c.1190A>C (p.Gln397Pro)
n.1574A>C
Xg.18604246A>GCA412360425CDKL5c.1322A>G (p.Gln441Arg)
c.1271A>G (p.Gln424Arg)
c.1190A>G (p.Gln397Arg)
n.1574A>G
Xg.18604246A>TCA412360426CDKL5c.1322A>T (p.Gln441Leu)
c.1271A>T (p.Gln424Leu)
c.1190A>T (p.Gln397Leu)
n.1574A>T
Xg.18604247G>ACA515627660CDKL5c.1323G>A (p.Gln441=)
c.1272G>A (p.Gln424=)
c.1191G>A (p.Gln397=)
n.1575G>A
Xg.18604247G>CCA412360428CDKL5c.1323G>C (p.Gln441His)
c.1272G>C (p.Gln424His)
c.1191G>C (p.Gln397His)
n.1575G>C
Xg.18604247G>TCA412360430CDKL5c.1323G>T (p.Gln441His)
c.1272G>T (p.Gln424His)
c.1191G>T (p.Gln397His)
n.1575G>T
Xg.18604248C>ACA412360432CDKL5c.1324C>A (p.Gln442Lys)
c.1273C>A (p.Gln425Lys)
c.1192C>A (p.Gln398Lys)
n.1576C>A
Xg.18604248C=CA2417974005CDKL5c.1324C= (p.Gln442=)
c.1273C= (p.Gln425=)
c.1192C= (p.Gln398=)
n.1576C=
Xg.18604248C>GCA412360434CDKL5c.1324C>G (p.Gln442Glu)
c.1273C>G (p.Gln425Glu)
c.1192C>G (p.Gln398Glu)
n.1576C>G
Xg.18604248C>TCA294749CDKL5c.1324C>T (p.Gln442Ter)
c.1273C>T (p.Gln425Ter)
c.1192C>T (p.Gln398Ter)
n.1576C>T
 ClinVar dbSNP
Xg.18604249A>CCA412360435CDKL5c.1325A>C (p.Gln442Pro)
c.1274A>C (p.Gln425Pro)
c.1193A>C (p.Gln398Pro)
n.1577A>C
Xg.18604249A>GCA412360437CDKL5c.1325A>G (p.Gln442Arg)
c.1274A>G (p.Gln425Arg)
c.1193A>G (p.Gln398Arg)
n.1577A>G
Xg.18604249A>TCA412360438CDKL5c.1325A>T (p.Gln442Leu)
c.1274A>T (p.Gln425Leu)
c.1193A>T (p.Gln398Leu)
n.1577A>T
Xg.18604250G>ACA515627666CDKL5c.1326G>A (p.Gln442=)
c.1275G>A (p.Gln425=)
c.1194G>A (p.Gln398=)
n.1578G>A
Xg.18604250G>CCA412360441CDKL5c.1326G>C (p.Gln442His)
c.1275G>C (p.Gln425His)
c.1194G>C (p.Gln398His)
n.1578G>C
Xg.18604250G>TCA412360442CDKL5c.1326G>T (p.Gln442His)
c.1275G>T (p.Gln425His)
c.1194G>T (p.Gln398His)
n.1578G>T
Xg.18604250_18604251insTCA2695231314CDKL5c.1326_1327insT (p.Asn443Ter)
c.1275_1276insT (p.Asn426Ter)
c.1194_1195insT (p.Asn399Ter)
n.1578_1579insT
Xg.18604251A>CCA412360444CDKL5c.1327A>C (p.Asn443His)
c.1276A>C (p.Asn426His)
c.1195A>C (p.Asn399His)
n.1579A>C
Xg.18604251A>GCA412360447CDKL5c.1327A>G (p.Asn443Asp)
c.1276A>G (p.Asn426Asp)
c.1195A>G (p.Asn399Asp)
n.1579A>G
Xg.18604251A>TCA412360445CDKL5c.1327A>T (p.Asn443Tyr)
c.1276A>T (p.Asn426Tyr)
c.1195A>T (p.Asn399Tyr)
n.1579A>T
Xg.18604252A=CA2417974012CDKL5c.1328A= (p.Asn443=)
c.1277A= (p.Asn426=)
c.1196A= (p.Asn399=)
n.1580A=
Xg.18604252A>CCA10360373CDKL5c.1328A>C (p.Asn443Thr)
c.1277A>C (p.Asn426Thr)
c.1196A>C (p.Asn399Thr)
n.1580A>C
 dbSNP ExAC gnomAD v2
Xg.18604252A>GCA412360450CDKL5c.1328A>G (p.Asn443Ser)
c.1277A>G (p.Asn426Ser)
c.1196A>G (p.Asn399Ser)
n.1580A>G
Xg.18604252A>TCA412360451CDKL5c.1328A>T (p.Asn443Ile)
c.1277A>T (p.Asn426Ile)
c.1196A>T (p.Asn399Ile)
n.1580A>T
 ClinVar
Xg.18604253C>ACA412360453CDKL5c.1329C>A (p.Asn443Lys)
c.1278C>A (p.Asn426Lys)
c.1197C>A (p.Asn399Lys)
n.1581C>A
Xg.18604253C>GCA412360455CDKL5c.1329C>G (p.Asn443Lys)
c.1278C>G (p.Asn426Lys)
c.1197C>G (p.Asn399Lys)
n.1581C>G
Xg.18604253C>TCA515627670CDKL5c.1329C>T (p.Asn443=)
c.1278C>T (p.Asn426=)
c.1197C>T (p.Asn399=)
n.1581C>T
 gnomAD v4
Xg.18604255_18604257dupCA2693222670CDKL5c.1331_1333dup (p.Arg444_His445insArg)
c.1280_1282dup (p.Arg427_His428insArg)
c.1199_1201dup (p.Arg400_His401insArg)
n.1583_1585dup
 gnomAD v4
Xg.18604254C>ACA412360457CDKL5c.1330C>A (p.Arg444Ser)
c.1279C>A (p.Arg427Ser)
c.1198C>A (p.Arg400Ser)
n.1582C>A
Xg.18604254C=CA2417974016CDKL5c.1330C= (p.Arg444=)
c.1279C= (p.Arg427=)
c.1198C= (p.Arg400=)
n.1582C=
Xg.18604254C>GCA412360458CDKL5c.1330C>G (p.Arg444Gly)
c.1279C>G (p.Arg427Gly)
c.1198C>G (p.Arg400Gly)
n.1582C>G
Xg.18604254C>TCA171608CDKL5c.1330C>T (p.Arg444Cys)
c.1279C>T (p.Arg427Cys)
c.1198C>T (p.Arg400Cys)
n.1582C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604254_18604266delCA2740092029CDKL5c.1330_1342del (p.Arg444TrpfsTer?)
c.1279_1291del (p.Arg427TrpfsTer?)
c.1198_1210del (p.Arg400TrpfsTer?)
n.1582_1594del
 ClinVar
Xg.18604255G>ACA326987768CDKL5c.1331G>A (p.Arg444His)
c.1280G>A (p.Arg427His)
c.1199G>A (p.Arg400His)
n.1583G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.18604255G>CCA412360462CDKL5c.1331G>C (p.Arg444Pro)
c.1280G>C (p.Arg427Pro)
c.1199G>C (p.Arg400Pro)
n.1583G>C
Xg.18604255G=CA2417974023CDKL5c.1331G= (p.Arg444=)
c.1280G= (p.Arg427=)
c.1199G= (p.Arg400=)
n.1583G=
Xg.18604255G>TCA412360463CDKL5c.1331G>T (p.Arg444Leu)
c.1280G>T (p.Arg427Leu)
c.1199G>T (p.Arg400Leu)
n.1583G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.18604256C>ACA515627674CDKL5c.1332C>A (p.Arg444=)
c.1281C>A (p.Arg427=)
c.1200C>A (p.Arg400=)
n.1584C>A
Xg.18604256C=CA2417974027CDKL5c.1332C= (p.Arg444=)
c.1281C= (p.Arg427=)
c.1200C= (p.Arg400=)
n.1584C=
Xg.18604256C>GCA515627676CDKL5c.1332C>G (p.Arg444=)
c.1281C>G (p.Arg427=)
c.1200C>G (p.Arg400=)
n.1584C>G
 gnomAD v4
Xg.18604256C>TCA200937CDKL5c.1332C>T (p.Arg444=)
c.1281C>T (p.Arg427=)
c.1200C>T (p.Arg400=)
n.1584C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604257C>ACA412360468CDKL5c.1333C>A (p.His445Asn)
c.1282C>A (p.His428Asn)
c.1201C>A (p.His401Asn)
n.1585C>A
Xg.18604257C>GCA412360467CDKL5c.1333C>G (p.His445Asp)
c.1282C>G (p.His428Asp)
c.1201C>G (p.His401Asp)
n.1585C>G
Xg.18604257C>TCA412360466CDKL5c.1333C>T (p.His445Tyr)
c.1282C>T (p.His428Tyr)
c.1201C>T (p.His401Tyr)
n.1585C>T
 gnomAD v4
Xg.18604258A>CCA412360471CDKL5c.1334A>C (p.His445Pro)
c.1283A>C (p.His428Pro)
c.1202A>C (p.His401Pro)
n.1586A>C
Xg.18604258A>GCA412360474CDKL5c.1334A>G (p.His445Arg)
c.1283A>G (p.His428Arg)
c.1202A>G (p.His401Arg)
n.1586A>G
Xg.18604258A>TCA412360475CDKL5c.1334A>T (p.His445Leu)
c.1283A>T (p.His428Leu)
c.1202A>T (p.His401Leu)
n.1586A>T
Xg.18604258_18604259insAACACACCCAACA2819902109CDKL5c.1334_1335insAACACACCCAA (p.His445GlnfsTer?)
c.1283_1284insAACACACCCAA (p.His428GlnfsTer?)
c.1202_1203insAACACACCCAA (p.His401GlnfsTer?)
n.1586_1587insAACACACCCAA
Xg.18604259_18604260insCAAACACACCCAACCA2819902110CDKL5c.1335_1336insCAAACACACCCAAC (p.Ser446GlnfsTer?)
c.1284_1285insCAAACACACCCAAC (p.Ser429GlnfsTer?)
c.1203_1204insCAAACACACCCAAC (p.Ser402GlnfsTer?)
n.1587_1588insCAAACACACCCAAC
Xg.18604259C>ACA412360476CDKL5c.1335C>A (p.His445Gln)
c.1284C>A (p.His428Gln)
c.1203C>A (p.His401Gln)
n.1587C>A
Xg.18604259C>GCA412360477CDKL5c.1335C>G (p.His445Gln)
c.1284C>G (p.His428Gln)
c.1203C>G (p.His401Gln)
n.1587C>G
Xg.18604259C>TCA515627680CDKL5c.1335C>T (p.His445=)
c.1284C>T (p.His428=)
c.1203C>T (p.His401=)
n.1587C>T
 gnomAD v4
Xg.18604260T>ACA412360478CDKL5c.1336T>A (p.Ser446Thr)
c.1285T>A (p.Ser429Thr)
c.1204T>A (p.Ser402Thr)
n.1588T>A
Xg.18604260T>CCA412360480CDKL5c.1336T>C (p.Ser446Pro)
c.1285T>C (p.Ser429Pro)
c.1204T>C (p.Ser402Pro)
n.1588T>C
Xg.18604260T>GCA412360482CDKL5c.1336T>G (p.Ser446Ala)
c.1285T>G (p.Ser429Ala)
c.1204T>G (p.Ser402Ala)
n.1588T>G
Xg.18604261C>ACA412360484CDKL5c.1337C>A (p.Ser446Ter)
c.1286C>A (p.Ser429Ter)
c.1205C>A (p.Ser402Ter)
n.1589C>A
Xg.18604261C=CA2417974030CDKL5c.1337C= (p.Ser446=)
c.1286C= (p.Ser429=)
c.1205C= (p.Ser402=)
n.1589C=
Xg.18604261C>GCA412360485CDKL5c.1337C>G (p.Ser446Ter)
c.1286C>G (p.Ser429Ter)
c.1205C>G (p.Ser402Ter)
n.1589C>G
Xg.18604261C>TCA412360487CDKL5c.1337C>T (p.Ser446Leu)
c.1286C>T (p.Ser429Leu)
c.1205C>T (p.Ser402Leu)
n.1589C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604262A=CA2417974035CDKL5c.1338A= (p.Ser446=)
c.1287A= (p.Ser429=)
c.1206A= (p.Ser402=)
n.1590A=
Xg.18604262A>CCA515627689CDKL5c.1338A>C (p.Ser446=)
c.1287A>C (p.Ser429=)
c.1206A>C (p.Ser402=)
n.1590A>C
Xg.18604262A>GCA515627690CDKL5c.1338A>G (p.Ser446=)
c.1287A>G (p.Ser429=)
c.1206A>G (p.Ser402=)
n.1590A>G
Xg.18604262A>TCA10360374CDKL5c.1338A>T (p.Ser446=)
c.1287A>T (p.Ser429=)
c.1206A>T (p.Ser402=)
n.1590A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604263T>ACA412360489CDKL5c.1339T>A (p.Phe447Ile)
c.1288T>A (p.Phe430Ile)
c.1207T>A (p.Phe403Ile)
n.1591T>A
Xg.18604263T>CCA10360375CDKL5c.1339T>C (p.Phe447Leu)
c.1288T>C (p.Phe430Leu)
c.1207T>C (p.Phe403Leu)
n.1591T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604263T>GCA412360491CDKL5c.1339T>G (p.Phe447Val)
c.1288T>G (p.Phe430Val)
c.1207T>G (p.Phe403Val)
n.1591T>G
Xg.18604263T=CA2417974038CDKL5c.1339T= (p.Phe447=)
c.1288T= (p.Phe430=)
c.1207T= (p.Phe403=)
n.1591T=
Xg.18604264T>ACA412360493CDKL5c.1340T>A (p.Phe447Tyr)
c.1289T>A (p.Phe430Tyr)
c.1208T>A (p.Phe403Tyr)
n.1592T>A
Xg.18604264T>CCA412360500CDKL5c.1340T>C (p.Phe447Ser)
c.1289T>C (p.Phe430Ser)
c.1208T>C (p.Phe403Ser)
n.1592T>C
Xg.18604264T>GCA10360376CDKL5c.1340T>G (p.Phe447Cys)
c.1289T>G (p.Phe430Cys)
c.1208T>G (p.Phe403Cys)
n.1592T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604264T=CA2417974043CDKL5c.1340T= (p.Phe447=)
c.1289T= (p.Phe430=)
c.1208T= (p.Phe403=)
n.1592T=
Xg.18604264_18604265delinsTCCA2417974041CDKL5c.1340_1341delinsTC (p.Phe447=)
c.1289_1290delinsTC (p.Phe430=)
c.1208_1209delinsTC (p.Phe403=)
n.1592_1593delinsTC
Xg.18604265delCA199376CDKL5c.1341del (p.Phe447LeufsTer?)
c.1290del (p.Phe430LeufsTer?)
c.1209del (p.Phe403LeufsTer?)
n.1593del
 ClinVar dbSNP
Xg.18604265C>ACA412360501CDKL5c.1341C>A (p.Phe447Leu)
c.1290C>A (p.Phe430Leu)
c.1209C>A (p.Phe403Leu)
n.1593C>A
 gnomAD v4
Xg.18604265C>GCA412360504CDKL5c.1341C>G (p.Phe447Leu)
c.1290C>G (p.Phe430Leu)
c.1209C>G (p.Phe403Leu)
n.1593C>G
Xg.18604265C>TCA515627695CDKL5c.1341C>T (p.Phe447=)
c.1290C>T (p.Phe430=)
c.1209C>T (p.Phe403=)
n.1593C>T
Xg.18604266A=CA2417974051CDKL5c.1342A= (p.Met448=)
c.1291A= (p.Met431=)
c.1210A= (p.Met404=)
n.1594A=
Xg.18604266A>CCA412360507CDKL5c.1342A>C (p.Met448Leu)
c.1291A>C (p.Met431Leu)
c.1210A>C (p.Met404Leu)
n.1594A>C
Xg.18604266A>GCA412360508CDKL5c.1342A>G (p.Met448Val)
c.1291A>G (p.Met431Val)
c.1210A>G (p.Met404Val)
n.1594A>G
 ClinVar dbSNP
Xg.18604266A>TCA412360510CDKL5c.1342A>T (p.Met448Leu)
c.1291A>T (p.Met431Leu)
c.1210A>T (p.Met404Leu)
n.1594A>T
Xg.18604267T>ACA412360511CDKL5c.1343T>A (p.Met448Lys)
c.1292T>A (p.Met431Lys)
c.1211T>A (p.Met404Lys)
n.1595T>A
Xg.18604267T>CCA412360512CDKL5c.1343T>C (p.Met448Thr)
c.1292T>C (p.Met431Thr)
c.1211T>C (p.Met404Thr)
n.1595T>C
Xg.18604267T>GCA412360513CDKL5c.1343T>G (p.Met448Arg)
c.1292T>G (p.Met431Arg)
c.1211T>G (p.Met404Arg)
n.1595T>G
Xg.18604267_18604286delinsTGGAAAGCTCTCAAAGCAAACA2417974056CDKL5c.1343_1362delinsTGGAAAGCTCTCAAAGCAAA (p.Met448=)
c.1292_1311delinsTGGAAAGCTCTCAAAGCAAA (p.Met431=)
c.1211_1230delinsTGGAAAGCTCTCAAAGCAAA (p.Met404=)
n.1595_1614delinsTGGAAAGCTCTCAAAGCAAA
Xg.18604268G>ACA412360517CDKL5c.1344G>A (p.Met448Ile)
c.1293G>A (p.Met431Ile)
c.1212G>A (p.Met404Ile)
n.1596G>A
 ClinVar dbSNP
Xg.18604268G>CCA412360518CDKL5c.1344G>C (p.Met448Ile)
c.1293G>C (p.Met431Ile)
c.1212G>C (p.Met404Ile)
n.1596G>C
Xg.18604268G=CA2417974065CDKL5c.1344G= (p.Met448=)
c.1293G= (p.Met431=)
c.1212G= (p.Met404=)
n.1596G=
Xg.18604268G>TCA412360520CDKL5c.1344G>T (p.Met448Ile)
c.1293G>T (p.Met431Ile)
c.1212G>T (p.Met404Ile)
n.1596G>T
Xg.18604268_18604270delinsGGACA2417974063CDKL5c.1344_1346delinsGGA (p.Met448=)
c.1293_1295delinsGGA (p.Met431=)
c.1212_1214delinsGGA (p.Met404=)
n.1596_1598delinsGGA
Xg.18604269_18604287delCA294680CDKL5c.1345_1363del (p.Glu449LeufsTer?)
c.1294_1312del (p.Glu432LeufsTer?)
c.1213_1231del (p.Glu405LeufsTer?)
n.1597_1615del
 ClinVar dbSNP
Xg.18604269G>ACA412360529CDKL5c.1345G>A (p.Glu449Lys)
c.1294G>A (p.Glu432Lys)
c.1213G>A (p.Glu405Lys)
n.1597G>A
Xg.18604269G>CCA412360525CDKL5c.1345G>C (p.Glu449Gln)
c.1294G>C (p.Glu432Gln)
c.1213G>C (p.Glu405Gln)
n.1597G>C
Xg.18604269G=CA2417974074CDKL5c.1345G= (p.Glu449=)
c.1294G= (p.Glu432=)
c.1213G= (p.Glu405=)
n.1597G=
Xg.18604269G>TCA412360527CDKL5c.1345G>T (p.Glu449Ter)
c.1294G>T (p.Glu432Ter)
c.1213G>T (p.Glu405Ter)
n.1597G>T
 ClinVar dbSNP
Xg.18604269_18604270delCA171610CDKL5c.1345_1346del (p.Glu449LysfsTer13)
c.1294_1295del (p.Glu432LysfsTer13)
c.1213_1214del (p.Glu405LysfsTer13)
n.1597_1598del
 ClinVar dbSNP
Xg.18604270A>CCA412360531CDKL5c.1346A>C (p.Glu449Ala)
c.1295A>C (p.Glu432Ala)
c.1214A>C (p.Glu405Ala)
n.1598A>C
Xg.18604270A>GCA412360532CDKL5c.1346A>G (p.Glu449Gly)
c.1295A>G (p.Glu432Gly)
c.1214A>G (p.Glu405Gly)
n.1598A>G
Xg.18604270A>TCA412360535CDKL5c.1346A>T (p.Glu449Val)
c.1295A>T (p.Glu432Val)
c.1214A>T (p.Glu405Val)
n.1598A>T
Xg.18604271A=CA2417974077CDKL5c.1347A= (p.Glu449=)
c.1296A= (p.Glu432=)
c.1215A= (p.Glu405=)
n.1599A=
Xg.18604271A>CCA412360537CDKL5c.1347A>C (p.Glu449Asp)
c.1296A>C (p.Glu432Asp)
c.1215A>C (p.Glu405Asp)
n.1599A>C
Xg.18604271A>GCA326987778CDKL5c.1347A>G (p.Glu449=)
c.1296A>G (p.Glu432=)
c.1215A>G (p.Glu405=)
n.1599A>G
 dbSNP
Xg.18604271A>TCA412360539CDKL5c.1347A>T (p.Glu449Asp)
c.1296A>T (p.Glu432Asp)
c.1215A>T (p.Glu405Asp)
n.1599A>T
Xg.18604272A>CCA412360541CDKL5c.1348A>C (p.Ser450Arg)
c.1297A>C (p.Ser433Arg)
c.1216A>C (p.Ser406Arg)
n.1600A>C
Xg.18604272A>GCA412360543CDKL5c.1348A>G (p.Ser450Gly)
c.1297A>G (p.Ser433Gly)
c.1216A>G (p.Ser406Gly)
n.1600A>G
 gnomAD v4
Xg.18604272A>TCA412360545CDKL5c.1348A>T (p.Ser450Cys)
c.1297A>T (p.Ser433Cys)
c.1216A>T (p.Ser406Cys)
n.1600A>T
Xg.18604273G>ACA412360552CDKL5c.1349G>A (p.Ser450Asn)
c.1298G>A (p.Ser433Asn)
c.1217G>A (p.Ser406Asn)
n.1601G>A
 dbSNP
Xg.18604273G>CCA412360550CDKL5c.1349G>C (p.Ser450Thr)
c.1298G>C (p.Ser433Thr)
c.1217G>C (p.Ser406Thr)
n.1601G>C
Xg.18604273G=CA2417974082CDKL5c.1349G= (p.Ser450=)
c.1298G= (p.Ser433=)
c.1217G= (p.Ser406=)
n.1601G=
Xg.18604273G>TCA412360548CDKL5c.1349G>T (p.Ser450Ile)
c.1298G>T (p.Ser433Ile)
c.1217G>T (p.Ser406Ile)
n.1601G>T
 gnomAD v4
Xg.18604274C>ACA412360553CDKL5c.1350C>A (p.Ser450Arg)
c.1299C>A (p.Ser433Arg)
c.1218C>A (p.Ser406Arg)
n.1602C>A
Xg.18604274C>GCA412360554CDKL5c.1350C>G (p.Ser450Arg)
c.1299C>G (p.Ser433Arg)
c.1218C>G (p.Ser406Arg)
n.1602C>G
Xg.18604274C>TCA515627711CDKL5c.1350C>T (p.Ser450=)
c.1299C>T (p.Ser433=)
c.1218C>T (p.Ser406=)
n.1602C>T
Xg.18604275T>ACA412360555CDKL5c.1351T>A (p.Ser451Thr)
c.1300T>A (p.Ser434Thr)
c.1219T>A (p.Ser407Thr)
n.1603T>A
Xg.18604275T>CCA412360556CDKL5c.1351T>C (p.Ser451Pro)
c.1300T>C (p.Ser434Pro)
c.1219T>C (p.Ser407Pro)
n.1603T>C
 gnomAD v4
Xg.18604275T>GCA412360557CDKL5c.1351T>G (p.Ser451Ala)
c.1300T>G (p.Ser434Ala)
c.1219T>G (p.Ser407Ala)
n.1603T>G
Xg.18604276C>ACA412360558CDKL5c.1352C>A (p.Ser451Tyr)
c.1301C>A (p.Ser434Tyr)
c.1220C>A (p.Ser407Tyr)
n.1604C>A
Xg.18604276C>GCA412360559CDKL5c.1352C>G (p.Ser451Cys)
c.1301C>G (p.Ser434Cys)
c.1220C>G (p.Ser407Cys)
n.1604C>G
Xg.18604276C>TCA412360561CDKL5c.1352C>T (p.Ser451Phe)
c.1301C>T (p.Ser434Phe)
c.1220C>T (p.Ser407Phe)
n.1604C>T
Xg.18604277T>ACA515627718CDKL5c.1353T>A (p.Ser451=)
c.1302T>A (p.Ser434=)
c.1221T>A (p.Ser407=)
n.1605T>A
Xg.18604277T>CCA515627723CDKL5c.1353T>C (p.Ser451=)
c.1302T>C (p.Ser434=)
c.1221T>C (p.Ser407=)
n.1605T>C
Xg.18604277T>GCA515627725CDKL5c.1353T>G (p.Ser451=)
c.1302T>G (p.Ser434=)
c.1221T>G (p.Ser407=)
n.1605T>G
Xg.18604278C>ACA412360563CDKL5c.1354C>A (p.Gln452Lys)
c.1303C>A (p.Gln435Lys)
c.1222C>A (p.Gln408Lys)
n.1606C>A
Xg.18604278C=CA2417974086CDKL5c.1354C= (p.Gln452=)
c.1303C= (p.Gln435=)
c.1222C= (p.Gln408=)
n.1606C=
Xg.18604278C>GCA412360564CDKL5c.1354C>G (p.Gln452Glu)
c.1303C>G (p.Gln435Glu)
c.1222C>G (p.Gln408Glu)
n.1606C>G
 gnomAD v4
Xg.18604278C>TCA412360565CDKL5c.1354C>T (p.Gln452Ter)
c.1303C>T (p.Gln435Ter)
c.1222C>T (p.Gln408Ter)
n.1606C>T
 ClinVar dbSNP
Xg.18604279A>CCA412360571CDKL5c.1355A>C (p.Gln452Pro)
c.1304A>C (p.Gln435Pro)
c.1223A>C (p.Gln408Pro)
n.1607A>C
Xg.18604279A>GCA412360570CDKL5c.1355A>G (p.Gln452Arg)
c.1304A>G (p.Gln435Arg)
c.1223A>G (p.Gln408Arg)
n.1607A>G
Xg.18604279A>TCA412360568CDKL5c.1355A>T (p.Gln452Leu)
c.1304A>T (p.Gln435Leu)
c.1223A>T (p.Gln408Leu)
n.1607A>T
Xg.18604280A>CCA412360572CDKL5c.1356A>C (p.Gln452His)
c.1305A>C (p.Gln435His)
c.1224A>C (p.Gln408His)
n.1608A>C
Xg.18604280A>GCA515627727CDKL5c.1356A>G (p.Gln452=)
c.1305A>G (p.Gln435=)
c.1224A>G (p.Gln408=)
n.1608A>G
Xg.18604280A>TCA412360573CDKL5c.1356A>T (p.Gln452His)
c.1305A>T (p.Gln435His)
c.1224A>T (p.Gln408His)
n.1608A>T
Xg.18604281A>CCA412360574CDKL5c.1357A>C (p.Ser453Arg)
c.1306A>C (p.Ser436Arg)
c.1225A>C (p.Ser409Arg)
n.1609A>C
Xg.18604281A>GCA412360575CDKL5c.1357A>G (p.Ser453Gly)
c.1306A>G (p.Ser436Gly)
c.1225A>G (p.Ser409Gly)
n.1609A>G
Xg.18604281A>TCA412360576CDKL5c.1357A>T (p.Ser453Cys)
c.1306A>T (p.Ser436Cys)
c.1225A>T (p.Ser409Cys)
n.1609A>T
Xg.18604282G>ACA412360578CDKL5c.1358G>A (p.Ser453Asn)
c.1307G>A (p.Ser436Asn)
c.1226G>A (p.Ser409Asn)
n.1610G>A
 gnomAD v4
Xg.18604282G>CCA412360580CDKL5c.1358G>C (p.Ser453Thr)
c.1307G>C (p.Ser436Thr)
c.1226G>C (p.Ser409Thr)
n.1610G>C
Xg.18604282G>TCA412360582CDKL5c.1358G>T (p.Ser453Ile)
c.1307G>T (p.Ser436Ile)
c.1226G>T (p.Ser409Ile)
n.1610G>T
Xg.18604283C>ACA412360583CDKL5c.1359C>A (p.Ser453Arg)
c.1308C>A (p.Ser436Arg)
c.1227C>A (p.Ser409Arg)
n.1611C>A
Xg.18604283C>GCA412360585CDKL5c.1359C>G (p.Ser453Arg)
c.1308C>G (p.Ser436Arg)
c.1227C>G (p.Ser409Arg)
n.1611C>G
Xg.18604283C>TCA515627733CDKL5c.1359C>T (p.Ser453=)
c.1308C>T (p.Ser436=)
c.1227C>T (p.Ser409=)
n.1611C>T
Xg.18604284A=CA2417974088CDKL5c.1360A= (p.Lys454=)
c.1309A= (p.Lys437=)
c.1228A= (p.Lys410=)
n.1612A=
Xg.18604284A>CCA412360586CDKL5c.1360A>C (p.Lys454Gln)
c.1309A>C (p.Lys437Gln)
c.1228A>C (p.Lys410Gln)
n.1612A>C
Xg.18604284A>GCA412360587CDKL5c.1360A>G (p.Lys454Glu)
c.1309A>G (p.Lys437Glu)
c.1228A>G (p.Lys410Glu)
n.1612A>G
 dbSNP
Xg.18604284A>TCA412360591CDKL5c.1360A>T (p.Lys454Ter)
c.1309A>T (p.Lys437Ter)
c.1228A>T (p.Lys410Ter)
n.1612A>T
Xg.18604285A>CCA412360595CDKL5c.1361A>C (p.Lys454Thr)
c.1310A>C (p.Lys437Thr)
c.1229A>C (p.Lys410Thr)
n.1613A>C
Xg.18604285A>GCA412360594CDKL5c.1361A>G (p.Lys454Arg)
c.1310A>G (p.Lys437Arg)
c.1229A>G (p.Lys410Arg)
n.1613A>G
Xg.18604285A>TCA412360593CDKL5c.1361A>T (p.Lys454Ile)
c.1310A>T (p.Lys437Ile)
c.1229A>T (p.Lys410Ile)
n.1613A>T
Xg.18604286A>CCA412360598CDKL5c.1362A>C (p.Lys454Asn)
c.1311A>C (p.Lys437Asn)
c.1230A>C (p.Lys410Asn)
n.1614A>C
Xg.18604286A>GCA515627738CDKL5c.1362A>G (p.Lys454=)
c.1311A>G (p.Lys437=)
c.1230A>G (p.Lys410=)
n.1614A>G
 COSMIC
Xg.18604286A>TCA412360596CDKL5c.1362A>T (p.Lys454Asn)
c.1311A>T (p.Lys437Asn)
c.1230A>T (p.Lys410Asn)
n.1614A>T
Xg.18604286_18604287insCACACCCAACACACA2819902123CDKL5c.1362_1363insCACACCCAACACA (p.Ala455HisfsTer12)
c.1311_1312insCACACCCAACACA (p.Ala438HisfsTer12)
c.1230_1231insCACACCCAACACA (p.Ala411HisfsTer12)
n.1614_1615insCACACCCAACACA
Xg.18604287G>ACA412360602CDKL5c.1363G>A (p.Ala455Thr)
c.1312G>A (p.Ala438Thr)
c.1231G>A (p.Ala411Thr)
n.1615G>A
 COSMIC
Xg.18604287G>CCA412360600CDKL5c.1363G>C (p.Ala455Pro)
c.1312G>C (p.Ala438Pro)
c.1231G>C (p.Ala411Pro)
n.1615G>C
 gnomAD v4
Xg.18604287G>TCA412360604CDKL5c.1363G>T (p.Ala455Ser)
c.1312G>T (p.Ala438Ser)
c.1231G>T (p.Ala411Ser)
n.1615G>T
Xg.18604288C>ACA412360606CDKL5c.1364C>A (p.Ala455Asp)
c.1313C>A (p.Ala438Asp)
c.1232C>A (p.Ala411Asp)
n.1616C>A
Xg.18604288C>GCA412360608CDKL5c.1364C>G (p.Ala455Gly)
c.1313C>G (p.Ala438Gly)
c.1232C>G (p.Ala411Gly)
n.1616C>G
Xg.18604288C>TCA412360609CDKL5c.1364C>T (p.Ala455Val)
c.1313C>T (p.Ala438Val)
c.1232C>T (p.Ala411Val)
n.1616C>T
 gnomAD v4
Xg.18604289T>ACA515627754CDKL5c.1365T>A (p.Ala455=)
c.1314T>A (p.Ala438=)
c.1233T>A (p.Ala411=)
n.1617T>A
Xg.18604289T>CCA515627752CDKL5c.1365T>C (p.Ala455=)
c.1314T>C (p.Ala438=)
c.1233T>C (p.Ala411=)
n.1617T>C
Xg.18604289T>GCA515627751CDKL5c.1365T>G (p.Ala455=)
c.1314T>G (p.Ala438=)
c.1233T>G (p.Ala411=)
n.1617T>G
Xg.18604289T=CA2417974090CDKL5c.1365T= (p.Ala455=)
c.1314T= (p.Ala438=)
c.1233T= (p.Ala411=)
n.1617T=

Number of alleles fetched