Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=
Xg.18604289_18604290insACA10606737CDKL5c.1365_1366insA (p.Gly456ArgfsTer7)
c.1314_1315insA (p.Gly439ArgfsTer7)
c.1233_1234insA (p.Gly412ArgfsTer7)
n.1617_1618insA
 ClinVar dbSNP
Xg.18604290G>ACA412360611CDKL5c.1366G>A (p.Gly456Arg)
c.1315G>A (p.Gly439Arg)
c.1234G>A (p.Gly412Arg)
n.1618G>A
Xg.18604290G>CCA412360613CDKL5c.1366G>C (p.Gly456Arg)
c.1315G>C (p.Gly439Arg)
c.1234G>C (p.Gly412Arg)
n.1618G>C
Xg.18604290G>TCA412360615CDKL5c.1366G>T (p.Gly456Trp)
c.1315G>T (p.Gly439Trp)
c.1234G>T (p.Gly412Trp)
n.1618G>T
Xg.18604291G>ACA412360616CDKL5c.1367G>A (p.Gly456Glu)
c.1316G>A (p.Gly439Glu)
c.1235G>A (p.Gly412Glu)
n.1619G>A
 COSMIC
Xg.18604291G>CCA10360377CDKL5c.1367G>C (p.Gly456Ala)
c.1316G>C (p.Gly439Ala)
c.1235G>C (p.Gly412Ala)
n.1619G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.18604291G=CA2417974097CDKL5c.1367G= (p.Gly456=)
c.1316G= (p.Gly439=)
c.1235G= (p.Gly412=)
n.1619G=
Xg.18604291G>TCA412360617CDKL5c.1367G>T (p.Gly456Val)
c.1316G>T (p.Gly439Val)
c.1235G>T (p.Gly412Val)
n.1619G>T
Xg.18604292G>ACA515627766CDKL5c.1368G>A (p.Gly456=)
c.1317G>A (p.Gly439=)
c.1236G>A (p.Gly412=)
n.1620G>A
Xg.18604292G>CCA515627767CDKL5c.1368G>C (p.Gly456=)
c.1317G>C (p.Gly439=)
c.1236G>C (p.Gly412=)
n.1620G>C
Xg.18604292G>TCA515627768CDKL5c.1368G>T (p.Gly456=)
c.1317G>T (p.Gly439=)
c.1236G>T (p.Gly412=)
n.1620G>T
Xg.18604293A>CCA412360618CDKL5c.1369A>C (p.Thr457Pro)
c.1318A>C (p.Thr440Pro)
c.1237A>C (p.Thr413Pro)
n.1621A>C
Xg.18604293A>GCA412360619CDKL5c.1369A>G (p.Thr457Ala)
c.1318A>G (p.Thr440Ala)
c.1237A>G (p.Thr413Ala)
n.1621A>G
Xg.18604293A>TCA412360620CDKL5c.1369A>T (p.Thr457Ser)
c.1318A>T (p.Thr440Ser)
c.1237A>T (p.Thr413Ser)
n.1621A>T
Xg.18604294C>ACA412360621CDKL5c.1370C>A (p.Thr457Lys)
c.1319C>A (p.Thr440Lys)
c.1238C>A (p.Thr413Lys)
n.1622C>A
Xg.18604294C>GCA412360624CDKL5c.1370C>G (p.Thr457Arg)
c.1319C>G (p.Thr440Arg)
c.1238C>G (p.Thr413Arg)
n.1622C>G
Xg.18604294C>TCA412360622CDKL5c.1370C>T (p.Thr457Ile)
c.1319C>T (p.Thr440Ile)
c.1238C>T (p.Thr413Ile)
n.1622C>T
Xg.18604295A>CCA515627775CDKL5c.1371A>C (p.Thr457=)
c.1320A>C (p.Thr440=)
c.1239A>C (p.Thr413=)
n.1623A>C
Xg.18604295A>GCA515627777CDKL5c.1371A>G (p.Thr457=)
c.1320A>G (p.Thr440=)
c.1239A>G (p.Thr413=)
n.1623A>G
 gnomAD v4
Xg.18604295A>TCA515627779CDKL5c.1371A>T (p.Thr457=)
c.1320A>T (p.Thr440=)
c.1239A>T (p.Thr413=)
n.1623A>T
Xg.18604295dupCA2695231319CDKL5c.1371dup (p.Leu458ThrfsTer5)
c.1320dup (p.Leu441ThrfsTer5)
c.1239dup (p.Leu414ThrfsTer5)
n.1623dup
Xg.18604296C>ACA412360626CDKL5c.1372C>A (p.Leu458Met)
c.1321C>A (p.Leu441Met)
c.1240C>A (p.Leu414Met)
n.1624C>A
Xg.18604296C>GCA412360628CDKL5c.1372C>G (p.Leu458Val)
c.1321C>G (p.Leu441Val)
c.1240C>G (p.Leu414Val)
n.1624C>G
Xg.18604296C>TCA515627782CDKL5c.1372C>T (p.Leu458=)
c.1321C>T (p.Leu441=)
c.1240C>T (p.Leu414=)
n.1624C>T
Xg.18604297T>ACA412360630CDKL5c.1373T>A (p.Leu458Gln)
c.1322T>A (p.Leu441Gln)
c.1241T>A (p.Leu414Gln)
n.1625T>A
Xg.18604297T>CCA412360632CDKL5c.1373T>C (p.Leu458Pro)
c.1322T>C (p.Leu441Pro)
c.1241T>C (p.Leu414Pro)
n.1625T>C
Xg.18604297T>GCA412360639CDKL5c.1373T>G (p.Leu458Arg)
c.1322T>G (p.Leu441Arg)
c.1241T>G (p.Leu414Arg)
n.1625T>G
Xg.18604298G>ACA515627786CDKL5c.1374G>A (p.Leu458=)
c.1323G>A (p.Leu441=)
c.1242G>A (p.Leu414=)
n.1626G>A
Xg.18604298G>CCA515627787CDKL5c.1374G>C (p.Leu458=)
c.1323G>C (p.Leu441=)
c.1242G>C (p.Leu414=)
n.1626G>C
Xg.18604298G>TCA515627788CDKL5c.1374G>T (p.Leu458=)
c.1323G>T (p.Leu441=)
c.1242G>T (p.Leu414=)
n.1626G>T
Xg.18604299C>ACA412360641CDKL5c.1375C>A (p.Gln459Lys)
c.1324C>A (p.Gln442Lys)
c.1243C>A (p.Gln415Lys)
n.1627C>A
Xg.18604299C=CA2417974101CDKL5c.1375C= (p.Gln459=)
c.1324C= (p.Gln442=)
c.1243C= (p.Gln415=)
n.1627C=
Xg.18604299C>GCA412360643CDKL5c.1375C>G (p.Gln459Glu)
c.1324C>G (p.Gln442Glu)
c.1243C>G (p.Gln415Glu)
n.1627C>G
Xg.18604299C>TCA199377CDKL5c.1375C>T (p.Gln459Ter)
c.1324C>T (p.Gln442Ter)
c.1243C>T (p.Gln415Ter)
n.1627C>T
 ClinVar dbSNP
Xg.18604300A>CCA412360646CDKL5c.1376A>C (p.Gln459Pro)
c.1325A>C (p.Gln442Pro)
c.1244A>C (p.Gln415Pro)
n.1628A>C
Xg.18604300A>GCA412360648CDKL5c.1376A>G (p.Gln459Arg)
c.1325A>G (p.Gln442Arg)
c.1244A>G (p.Gln415Arg)
n.1628A>G
Xg.18604300A>TCA412360649CDKL5c.1376A>T (p.Gln459Leu)
c.1325A>T (p.Gln442Leu)
c.1244A>T (p.Gln415Leu)
n.1628A>T
Xg.18604301G>ACA515627793CDKL5c.1377G>A (p.Gln459=)
c.1326G>A (p.Gln442=)
c.1245G>A (p.Gln415=)
n.1629G>A
 ClinVar dbSNP gnomAD v4
Xg.18604301G>CCA412360651CDKL5c.1377G>C (p.Gln459His)
c.1326G>C (p.Gln442His)
c.1245G>C (p.Gln415His)
n.1629G>C
Xg.18604301G>TCA412360650CDKL5c.1377G>T (p.Gln459His)
c.1326G>T (p.Gln442His)
c.1245G>T (p.Gln415His)
n.1629G>T
Xg.18604302C>ACA412360652CDKL5c.1378C>A (p.Pro460Thr)
c.1327C>A (p.Pro443Thr)
c.1246C>A (p.Pro416Thr)
n.1630C>A
Xg.18604302C=CA2417974104CDKL5c.1378C= (p.Pro460=)
c.1327C= (p.Pro443=)
c.1246C= (p.Pro416=)
n.1630C=
Xg.18604302C>GCA412360653CDKL5c.1378C>G (p.Pro460Ala)
c.1327C>G (p.Pro443Ala)
c.1246C>G (p.Pro416Ala)
n.1630C>G
Xg.18604302C>TCA326987784CDKL5c.1378C>T (p.Pro460Ser)
c.1327C>T (p.Pro443Ser)
c.1246C>T (p.Pro416Ser)
n.1630C>T
 dbSNP
Xg.18604303C>ACA412360655CDKL5c.1379C>A (p.Pro460His)
c.1328C>A (p.Pro443His)
c.1247C>A (p.Pro416His)
n.1631C>A
 gnomAD v4
Xg.18604303C>GCA412360656CDKL5c.1379C>G (p.Pro460Arg)
c.1328C>G (p.Pro443Arg)
c.1247C>G (p.Pro416Arg)
n.1631C>G
Xg.18604303C>TCA412360657CDKL5c.1379C>T (p.Pro460Leu)
c.1328C>T (p.Pro443Leu)
c.1247C>T (p.Pro416Leu)
n.1631C>T
Xg.18604304C>ACA515627805CDKL5c.1380C>A (p.Pro460=)
c.1329C>A (p.Pro443=)
c.1248C>A (p.Pro416=)
n.1632C>A
Xg.18604304C>GCA515627806CDKL5c.1380C>G (p.Pro460=)
c.1329C>G (p.Pro443=)
c.1248C>G (p.Pro416=)
n.1632C>G
Xg.18604304C>TCA515627804CDKL5c.1380C>T (p.Pro460=)
c.1329C>T (p.Pro443=)
c.1248C>T (p.Pro416=)
n.1632C>T
Xg.18604305A=CA2417974107CDKL5c.1381A= (p.Asn461=)
c.1330A= (p.Asn444=)
c.1249A= (p.Asn417=)
n.1633A=
Xg.18604305A>CCA412360659CDKL5c.1381A>C (p.Asn461His)
c.1330A>C (p.Asn444His)
c.1249A>C (p.Asn417His)
n.1633A>C
Xg.18604305A>GCA10360378CDKL5c.1381A>G (p.Asn461Asp)
c.1330A>G (p.Asn444Asp)
c.1249A>G (p.Asn417Asp)
n.1633A>G
 dbSNP ExAC gnomAD v2
Xg.18604305A>TCA412360658CDKL5c.1381A>T (p.Asn461Tyr)
c.1330A>T (p.Asn444Tyr)
c.1249A>T (p.Asn417Tyr)
n.1633A>T
Xg.18604306A=CA2417974115CDKL5c.1382A= (p.Asn461=)
c.1331A= (p.Asn444=)
c.1250A= (p.Asn417=)
n.1634A=
Xg.18604306A>CCA412360661CDKL5c.1382A>C (p.Asn461Thr)
c.1331A>C (p.Asn444Thr)
c.1250A>C (p.Asn417Thr)
n.1634A>C
 gnomAD v4
Xg.18604306A>GCA170445CDKL5c.1382A>G (p.Asn461Ser)
c.1331A>G (p.Asn444Ser)
c.1250A>G (p.Asn417Ser)
n.1634A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604306A>TCA10360379CDKL5c.1382A>T (p.Asn461Ile)
c.1331A>T (p.Asn444Ile)
c.1250A>T (p.Asn417Ile)
n.1634A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604307T>ACA412360664CDKL5c.1383T>A (p.Asn461Lys)
c.1332T>A (p.Asn444Lys)
c.1251T>A (p.Asn417Lys)
n.1635T>A
Xg.18604307T>CCA515627812CDKL5c.1383T>C (p.Asn461=)
c.1332T>C (p.Asn444=)
c.1251T>C (p.Asn417=)
n.1635T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.18604307T>GCA412360665CDKL5c.1383T>G (p.Asn461Lys)
c.1332T>G (p.Asn444Lys)
c.1251T>G (p.Asn417Lys)
n.1635T>G
Xg.18604307T=CA2417974125CDKL5c.1383T= (p.Asn461=)
c.1332T= (p.Asn444=)
c.1251T= (p.Asn417=)
n.1635T=
Xg.18604308G>ACA412360667CDKL5c.1384G>A (p.Glu462Lys)
c.1333G>A (p.Glu445Lys)
c.1252G>A (p.Glu418Lys)
n.1636G>A
Xg.18604308G>CCA412360670CDKL5c.1384G>C (p.Glu462Gln)
c.1333G>C (p.Glu445Gln)
c.1252G>C (p.Glu418Gln)
n.1636G>C
Xg.18604308G>TCA412360669CDKL5c.1384G>T (p.Glu462Ter)
c.1333G>T (p.Glu445Ter)
c.1252G>T (p.Glu418Ter)
n.1636G>T
 dbSNP
Xg.18604309A>CCA412360678CDKL5c.1385A>C (p.Glu462Ala)
c.1334A>C (p.Glu445Ala)
c.1253A>C (p.Glu418Ala)
n.1637A>C
Xg.18604309A>GCA412360681CDKL5c.1385A>G (p.Glu462Gly)
c.1334A>G (p.Glu445Gly)
c.1253A>G (p.Glu418Gly)
n.1637A>G
 gnomAD v4
Xg.18604309A>TCA412360682CDKL5c.1385A>T (p.Glu462Val)
c.1334A>T (p.Glu445Val)
c.1253A>T (p.Glu418Val)
n.1637A>T
Xg.18604310A=CA2417974130CDKL5c.1386A= (p.Glu462=)
c.1335A= (p.Glu445=)
c.1254A= (p.Glu418=)
n.1638A=
Xg.18604310A>CCA10360380CDKL5c.1386A>C (p.Glu462Asp)
c.1335A>C (p.Glu445Asp)
c.1254A>C (p.Glu418Asp)
n.1638A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604310A>GCA515627816CDKL5c.1386A>G (p.Glu462=)
c.1335A>G (p.Glu445=)
c.1254A>G (p.Glu418=)
n.1638A>G
Xg.18604310A>TCA412360683CDKL5c.1386A>T (p.Glu462Asp)
c.1335A>T (p.Glu445Asp)
c.1254A>T (p.Glu418Asp)
n.1638A>T

Number of alleles fetched