Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604060_18604063delCA2695231303CDKL5c.1136_1139del (p.Leu379ProfsTer?)
c.1085_1088del (p.Leu362ProfsTer?)
c.1004_1007del (p.Leu335ProfsTer?)
n.1388_1391del
Xg.18604061G>ACA515627543CDKL5c.1137G>A (p.Leu379=)
c.1086G>A (p.Leu362=)
c.1005G>A (p.Leu335=)
n.1389G>A
Xg.18604061G>CCA515627542CDKL5c.1137G>C (p.Leu379=)
c.1086G>C (p.Leu362=)
c.1005G>C (p.Leu335=)
n.1389G>C
Xg.18604061G>TCA515627541CDKL5c.1137G>T (p.Leu379=)
c.1086G>T (p.Leu362=)
c.1005G>T (p.Leu335=)
n.1389G>T
Xg.18604062C>ACA326987724CDKL5c.1138C>A (p.His380Asn)
c.1087C>A (p.His363Asn)
c.1006C>A (p.His336Asn)
n.1390C>A
 dbSNP
Xg.18604062C=CA2417973820CDKL5c.1138C= (p.His380=)
c.1087C= (p.His363=)
c.1006C= (p.His336=)
n.1390C=
Xg.18604062C>GCA412359625CDKL5c.1138C>G (p.His380Asp)
c.1087C>G (p.His363Asp)
c.1006C>G (p.His336Asp)
n.1390C>G
Xg.18604062C>TCA412359627CDKL5c.1138C>T (p.His380Tyr)
c.1087C>T (p.His363Tyr)
c.1006C>T (p.His336Tyr)
n.1390C>T
Xg.18604063A>CCA412359629CDKL5c.1139A>C (p.His380Pro)
c.1088A>C (p.His363Pro)
c.1007A>C (p.His336Pro)
n.1391A>C
Xg.18604063A>GCA412359631CDKL5c.1139A>G (p.His380Arg)
c.1088A>G (p.His363Arg)
c.1007A>G (p.His336Arg)
n.1391A>G
Xg.18604063A>TCA412359633CDKL5c.1139A>T (p.His380Leu)
c.1088A>T (p.His363Leu)
c.1007A>T (p.His336Leu)
n.1391A>T
Xg.18604064C>ACA412359635CDKL5c.1140C>A (p.His380Gln)
c.1089C>A (p.His363Gln)
c.1008C>A (p.His336Gln)
n.1392C>A
Xg.18604064C>GCA412359637CDKL5c.1140C>G (p.His380Gln)
c.1089C>G (p.His363Gln)
c.1008C>G (p.His336Gln)
n.1392C>G
Xg.18604064C>TCA515627547CDKL5c.1140C>T (p.His380=)
c.1089C>T (p.His363=)
c.1008C>T (p.His336=)
n.1392C>T
Xg.18604065A=CA2417973821CDKL5c.1141A= (p.Thr381=)
c.1090A= (p.Thr364=)
c.1009A= (p.Thr337=)
n.1393A=
Xg.18604065A>CCA412359639CDKL5c.1141A>C (p.Thr381Pro)
c.1090A>C (p.Thr364Pro)
c.1009A>C (p.Thr337Pro)
n.1393A>C
Xg.18604065A>GCA412359641CDKL5c.1141A>G (p.Thr381Ala)
c.1090A>G (p.Thr364Ala)
c.1009A>G (p.Thr337Ala)
n.1393A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18604065A>TCA412359643CDKL5c.1141A>T (p.Thr381Ser)
c.1090A>T (p.Thr364Ser)
c.1009A>T (p.Thr337Ser)
n.1393A>T
Xg.18604066C>ACA412359645CDKL5c.1142C>A (p.Thr381Asn)
c.1091C>A (p.Thr364Asn)
c.1010C>A (p.Thr337Asn)
n.1394C>A
Xg.18604066C>GCA412359647CDKL5c.1142C>G (p.Thr381Ser)
c.1091C>G (p.Thr364Ser)
c.1010C>G (p.Thr337Ser)
n.1394C>G
Xg.18604066C>TCA412359648CDKL5c.1142C>T (p.Thr381Ile)
c.1091C>T (p.Thr364Ile)
c.1010C>T (p.Thr337Ile)
n.1394C>T
 gnomAD v4
Xg.18604067C>ACA515627551CDKL5c.1143C>A (p.Thr381=)
c.1092C>A (p.Thr364=)
c.1011C>A (p.Thr337=)
n.1395C>A
 COSMIC
Xg.18604067C>GCA515627552CDKL5c.1143C>G (p.Thr381=)
c.1092C>G (p.Thr364=)
c.1011C>G (p.Thr337=)
n.1395C>G
Xg.18604067C>TCA515627553CDKL5c.1143C>T (p.Thr381=)
c.1092C>T (p.Thr364=)
c.1011C>T (p.Thr337=)
n.1395C>T
Xg.18604068A>CCA412359655CDKL5c.1144A>C (p.Lys382Gln)
c.1093A>C (p.Lys365Gln)
c.1012A>C (p.Lys338Gln)
n.1396A>C
 gnomAD v4
Xg.18604068A>GCA412359651CDKL5c.1144A>G (p.Lys382Glu)
c.1093A>G (p.Lys365Glu)
c.1012A>G (p.Lys338Glu)
n.1396A>G
Xg.18604068A>TCA412359653CDKL5c.1144A>T (p.Lys382Ter)
c.1093A>T (p.Lys365Ter)
c.1012A>T (p.Lys338Ter)
n.1396A>T
Xg.18604069A>CCA412359657CDKL5c.1145A>C (p.Lys382Thr)
c.1094A>C (p.Lys365Thr)
c.1013A>C (p.Lys338Thr)
n.1397A>C
Xg.18604069A>GCA412359658CDKL5c.1145A>G (p.Lys382Arg)
c.1094A>G (p.Lys365Arg)
c.1013A>G (p.Lys338Arg)
n.1397A>G
 gnomAD v4
Xg.18604069A>TCA412359661CDKL5c.1145A>T (p.Lys382Ile)
c.1094A>T (p.Lys365Ile)
c.1013A>T (p.Lys338Ile)
n.1397A>T
Xg.18604069_18604074delinsAAACCTCA2417973822CDKL5c.1145_1150delinsAAACCT (p.Lys382=)
c.1094_1099delinsAAACCT (p.Lys365=)
c.1013_1018delinsAAACCT (p.Lys338=)
n.1397_1402delinsAAACCT
Xg.18604070A=CA2417973823CDKL5c.1146A= (p.Lys382=)
c.1095A= (p.Lys365=)
c.1014A= (p.Lys338=)
n.1398A=
Xg.18604070A>CCA412359663CDKL5c.1146A>C (p.Lys382Asn)
c.1095A>C (p.Lys365Asn)
c.1014A>C (p.Lys338Asn)
n.1398A>C
Xg.18604070A>GCA515627557CDKL5c.1146A>G (p.Lys382=)
c.1095A>G (p.Lys365=)
c.1014A>G (p.Lys338=)
n.1398A>G
 dbSNP
Xg.18604070A>TCA412359664CDKL5c.1146A>T (p.Lys382Asn)
c.1095A>T (p.Lys365Asn)
c.1014A>T (p.Lys338Asn)
n.1398A>T
Xg.18604071_18604075delCA913190338CDKL5c.1147_1151del (p.Thr383ProfsTer23)
c.1096_1100del (p.Thr366ProfsTer23)
c.1015_1019del (p.Thr339ProfsTer23)
n.1399_1403del
 ClinVar dbSNP
Xg.18604071A>CCA412359668CDKL5c.1147A>C (p.Thr383Pro)
c.1096A>C (p.Thr366Pro)
c.1015A>C (p.Thr339Pro)
n.1399A>C
Xg.18604071A>GCA412359671CDKL5c.1147A>G (p.Thr383Ala)
c.1096A>G (p.Thr366Ala)
c.1015A>G (p.Thr339Ala)
n.1399A>G
Xg.18604071A>TCA412359669CDKL5c.1147A>T (p.Thr383Ser)
c.1096A>T (p.Thr366Ser)
c.1015A>T (p.Thr339Ser)
n.1399A>T
Xg.18604072C>ACA412359673CDKL5c.1148C>A (p.Thr383Asn)
c.1097C>A (p.Thr366Asn)
c.1016C>A (p.Thr339Asn)
n.1400C>A
Xg.18604072C>GCA412359675CDKL5c.1148C>G (p.Thr383Ser)
c.1097C>G (p.Thr366Ser)
c.1016C>G (p.Thr339Ser)
n.1400C>G
Xg.18604072C>TCA412359677CDKL5c.1148C>T (p.Thr383Ile)
c.1097C>T (p.Thr366Ile)
c.1016C>T (p.Thr339Ile)
n.1400C>T
Xg.18604073C>ACA515627559CDKL5c.1149C>A (p.Thr383=)
c.1098C>A (p.Thr366=)
c.1017C>A (p.Thr339=)
n.1401C>A
Xg.18604073C>GCA515627560CDKL5c.1149C>G (p.Thr383=)
c.1098C>G (p.Thr366=)
c.1017C>G (p.Thr339=)
n.1401C>G
Xg.18604073C>TCA515627561CDKL5c.1149C>T (p.Thr383=)
c.1098C>T (p.Thr366=)
c.1017C>T (p.Thr339=)
n.1401C>T
Xg.18604074T>ACA412359679CDKL5c.1150T>A (p.Tyr384Asn)
c.1099T>A (p.Tyr367Asn)
c.1018T>A (p.Tyr340Asn)
n.1402T>A
Xg.18604074T>CCA412359681CDKL5c.1150T>C (p.Tyr384His)
c.1099T>C (p.Tyr367His)
c.1018T>C (p.Tyr340His)
n.1402T>C
Xg.18604074T>GCA412359682CDKL5c.1150T>G (p.Tyr384Asp)
c.1099T>G (p.Tyr367Asp)
c.1018T>G (p.Tyr340Asp)
n.1402T>G
Xg.18604075A>CCA412359684CDKL5c.1151A>C (p.Tyr384Ser)
c.1100A>C (p.Tyr367Ser)
c.1019A>C (p.Tyr340Ser)
n.1403A>C
Xg.18604075A>GCA412359686CDKL5c.1151A>G (p.Tyr384Cys)
c.1100A>G (p.Tyr367Cys)
c.1019A>G (p.Tyr340Cys)
n.1403A>G
Xg.18604075A>TCA412359688CDKL5c.1151A>T (p.Tyr384Phe)
c.1100A>T (p.Tyr367Phe)
c.1019A>T (p.Tyr340Phe)
n.1403A>T
Xg.18604076C>ACA412359690CDKL5c.1152C>A (p.Tyr384Ter)
c.1101C>A (p.Tyr367Ter)
c.1020C>A (p.Tyr340Ter)
n.1404C>A
Xg.18604076C=CA2417973826CDKL5c.1152C= (p.Tyr384=)
c.1101C= (p.Tyr367=)
c.1020C= (p.Tyr340=)
n.1404C=
Xg.18604076C>GCA200935CDKL5c.1152C>G (p.Tyr384Ter)
c.1101C>G (p.Tyr367Ter)
c.1020C>G (p.Tyr340Ter)
n.1404C>G
 ClinVar dbSNP
Xg.18604076C>TCA515627565CDKL5c.1152C>T (p.Tyr384=)
c.1101C>T (p.Tyr367=)
c.1020C>T (p.Tyr340=)
n.1404C>T
Xg.18604077C>ACA10360358CDKL5c.1153C>A (p.Gln385Lys)
c.1102C>A (p.Gln368Lys)
c.1021C>A (p.Gln341Lys)
n.1405C>A
 dbSNP ExAC gnomAD v2
Xg.18604077C=CA2417973827CDKL5c.1153C= (p.Gln385=)
c.1102C= (p.Gln368=)
c.1021C= (p.Gln341=)
n.1405C=
Xg.18604077C>GCA412359694CDKL5c.1153C>G (p.Gln385Glu)
c.1102C>G (p.Gln368Glu)
c.1021C>G (p.Gln341Glu)
n.1405C>G
Xg.18604077C>TCA412359693CDKL5c.1153C>T (p.Gln385Ter)
c.1102C>T (p.Gln368Ter)
c.1021C>T (p.Gln341Ter)
n.1405C>T
Xg.18604078A>CCA412359697CDKL5c.1154A>C (p.Gln385Pro)
c.1103A>C (p.Gln368Pro)
c.1022A>C (p.Gln341Pro)
n.1406A>C
Xg.18604078A>GCA412359701CDKL5c.1154A>G (p.Gln385Arg)
c.1103A>G (p.Gln368Arg)
c.1022A>G (p.Gln341Arg)
n.1406A>G
Xg.18604078A>TCA412359698CDKL5c.1154A>T (p.Gln385Leu)
c.1103A>T (p.Gln368Leu)
c.1022A>T (p.Gln341Leu)
n.1406A>T
Xg.18604079A>CCA412359702CDKL5c.1155A>C (p.Gln385His)
c.1104A>C (p.Gln368His)
c.1023A>C (p.Gln341His)
n.1407A>C
Xg.18604079A>GCA515627568CDKL5c.1155A>G (p.Gln385=)
c.1104A>G (p.Gln368=)
c.1023A>G (p.Gln341=)
n.1407A>G
Xg.18604079A>TCA412359704CDKL5c.1155A>T (p.Gln385His)
c.1104A>T (p.Gln368His)
c.1023A>T (p.Gln341His)
n.1407A>T
Xg.18604080delCA2695231305CDKL5c.1156del (p.Ala386GlnfsTer?)
c.1105del (p.Ala369GlnfsTer?)
c.1024del (p.Ala342GlnfsTer?)
n.1408del
Xg.18604080G>ACA412359707CDKL5c.1156G>A (p.Ala386Thr)
c.1105G>A (p.Ala369Thr)
c.1024G>A (p.Ala342Thr)
n.1408G>A
Xg.18604080G>CCA412359708CDKL5c.1156G>C (p.Ala386Pro)
c.1105G>C (p.Ala369Pro)
c.1024G>C (p.Ala342Pro)
n.1408G>C
Xg.18604080G>TCA412359709CDKL5c.1156G>T (p.Ala386Ser)
c.1105G>T (p.Ala369Ser)
c.1024G>T (p.Ala342Ser)
n.1408G>T
Xg.18604081C>ACA412359711CDKL5c.1157C>A (p.Ala386Glu)
c.1106C>A (p.Ala369Glu)
c.1025C>A (p.Ala342Glu)
n.1409C>A
Xg.18604081C>GCA412359713CDKL5c.1157C>G (p.Ala386Gly)
c.1106C>G (p.Ala369Gly)
c.1025C>G (p.Ala342Gly)
n.1409C>G
Xg.18604081C>TCA412359715CDKL5c.1157C>T (p.Ala386Val)
c.1106C>T (p.Ala369Val)
c.1025C>T (p.Ala342Val)
n.1409C>T
Xg.18604082A>CCA515627571CDKL5c.1158A>C (p.Ala386=)
c.1107A>C (p.Ala369=)
c.1026A>C (p.Ala342=)
n.1410A>C
Xg.18604082A>GCA515627572CDKL5c.1158A>G (p.Ala386=)
c.1107A>G (p.Ala369=)
c.1026A>G (p.Ala342=)
n.1410A>G
Xg.18604082A>TCA515627573CDKL5c.1158A>T (p.Ala386=)
c.1107A>T (p.Ala369=)
c.1026A>T (p.Ala342=)
n.1410A>T
Xg.18604083A=CA2417973828CDKL5c.1159A= (p.Ser387=)
c.1108A= (p.Ser370=)
c.1027A= (p.Ser343=)
n.1411A=
Xg.18604083A>CCA412359717CDKL5c.1159A>C (p.Ser387Arg)
c.1108A>C (p.Ser370Arg)
c.1027A>C (p.Ser343Arg)
n.1411A>C
Xg.18604083A>GCA10360359CDKL5c.1159A>G (p.Ser387Gly)
c.1108A>G (p.Ser370Gly)
c.1027A>G (p.Ser343Gly)
n.1411A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604083A>TCA412359720CDKL5c.1159A>T (p.Ser387Cys)
c.1108A>T (p.Ser370Cys)
c.1027A>T (p.Ser343Cys)
n.1411A>T
Xg.18604084G>ACA412359722CDKL5c.1160G>A (p.Ser387Asn)
c.1109G>A (p.Ser370Asn)
c.1028G>A (p.Ser343Asn)
n.1412G>A
Xg.18604084G>CCA412359724CDKL5c.1160G>C (p.Ser387Thr)
c.1109G>C (p.Ser370Thr)
c.1028G>C (p.Ser343Thr)
n.1412G>C
Xg.18604084G>TCA412359726CDKL5c.1160G>T (p.Ser387Ile)
c.1109G>T (p.Ser370Ile)
c.1028G>T (p.Ser343Ile)
n.1412G>T
Xg.18604085C>ACA412359730CDKL5c.1161C>A (p.Ser387Arg)
c.1110C>A (p.Ser370Arg)
c.1029C>A (p.Ser343Arg)
n.1413C>A
Xg.18604085C>GCA412359729CDKL5c.1161C>G (p.Ser387Arg)
c.1110C>G (p.Ser370Arg)
c.1029C>G (p.Ser343Arg)
n.1413C>G
Xg.18604085C>TCA515627577CDKL5c.1161C>T (p.Ser387=)
c.1110C>T (p.Ser370=)
c.1029C>T (p.Ser343=)
n.1413C>T
Xg.18604090_18604093delCA2580615394CDKL5c.1166_1169del (p.Gln389LeufsTer?)
c.1115_1118del (p.Gln372LeufsTer?)
c.1034_1037del (p.Gln345LeufsTer?)
n.1418_1421del
 ClinVar
Xg.18604086A>CCA412359732CDKL5c.1162A>C (p.Ser388Arg)
c.1111A>C (p.Ser371Arg)
c.1030A>C (p.Ser344Arg)
n.1414A>C
Xg.18604086A>GCA412359734CDKL5c.1162A>G (p.Ser388Gly)
c.1111A>G (p.Ser371Gly)
c.1030A>G (p.Ser344Gly)
n.1414A>G
Xg.18604086A>TCA412359736CDKL5c.1162A>T (p.Ser388Cys)
c.1111A>T (p.Ser371Cys)
c.1030A>T (p.Ser344Cys)
n.1414A>T
Xg.18604087G>ACA10360360CDKL5c.1163G>A (p.Ser388Asn)
c.1112G>A (p.Ser371Asn)
c.1031G>A (p.Ser344Asn)
n.1415G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604087G>CCA412359739CDKL5c.1163G>C (p.Ser388Thr)
c.1112G>C (p.Ser371Thr)
c.1031G>C (p.Ser344Thr)
n.1415G>C
Xg.18604087G=CA2417973829CDKL5c.1163G= (p.Ser388=)
c.1112G= (p.Ser371=)
c.1031G= (p.Ser344=)
n.1415G=
Xg.18604087G>TCA412359741CDKL5c.1163G>T (p.Ser388Ile)
c.1112G>T (p.Ser371Ile)
c.1031G>T (p.Ser344Ile)
n.1415G>T
Xg.18604088C>ACA412359743CDKL5c.1164C>A (p.Ser388Arg)
c.1113C>A (p.Ser371Arg)
c.1032C>A (p.Ser344Arg)
n.1416C>A
Xg.18604088C>GCA412359744CDKL5c.1164C>G (p.Ser388Arg)
c.1113C>G (p.Ser371Arg)
c.1032C>G (p.Ser344Arg)
n.1416C>G
Xg.18604088C>TCA515627580CDKL5c.1164C>T (p.Ser388=)
c.1113C>T (p.Ser371=)
c.1032C>T (p.Ser344=)
n.1416C>T
 ClinVar
Xg.18604089C>ACA412359745CDKL5c.1165C>A (p.Gln389Lys)
c.1114C>A (p.Gln372Lys)
c.1033C>A (p.Gln345Lys)
n.1417C>A
Xg.18604089C=CA2417973830CDKL5c.1165C= (p.Gln389=)
c.1114C= (p.Gln372=)
c.1033C= (p.Gln345=)
n.1417C=
Xg.18604089C>GCA412359747CDKL5c.1165C>G (p.Gln389Glu)
c.1114C>G (p.Gln372Glu)
c.1033C>G (p.Gln345Glu)
n.1417C>G
Xg.18604089C>TCA412359749CDKL5c.1165C>T (p.Gln389Ter)
c.1114C>T (p.Gln372Ter)
c.1033C>T (p.Gln345Ter)
n.1417C>T
 ClinVar dbSNP
Xg.18604090A=CA2417973831CDKL5c.1166A= (p.Gln389=)
c.1115A= (p.Gln372=)
c.1034A= (p.Gln345=)
n.1418A=
Xg.18604090A>CCA412359755CDKL5c.1166A>C (p.Gln389Pro)
c.1115A>C (p.Gln372Pro)
c.1034A>C (p.Gln345Pro)
n.1418A>C
 dbSNP
Xg.18604090A>GCA412359753CDKL5c.1166A>G (p.Gln389Arg)
c.1115A>G (p.Gln372Arg)
c.1034A>G (p.Gln345Arg)
n.1418A>G
Xg.18604090A>TCA412359751CDKL5c.1166A>T (p.Gln389Leu)
c.1115A>T (p.Gln372Leu)
c.1034A>T (p.Gln345Leu)
n.1418A>T
 ClinVar
Xg.18604091G>ACA10360361CDKL5c.1167G>A (p.Gln389=)
c.1116G>A (p.Gln372=)
c.1035G>A (p.Gln345=)
n.1419G>A
 dbSNP ExAC gnomAD v2
Xg.18604091G>CCA412359758CDKL5c.1167G>C (p.Gln389His)
c.1116G>C (p.Gln372His)
c.1035G>C (p.Gln345His)
n.1419G>C
Xg.18604091G=CA2417973832CDKL5c.1167G= (p.Gln389=)
c.1116G= (p.Gln372=)
c.1035G= (p.Gln345=)
n.1419G=
Xg.18604091G>TCA412359760CDKL5c.1167G>T (p.Gln389His)
c.1116G>T (p.Gln372His)
c.1035G>T (p.Gln345His)
n.1419G>T
Xg.18604092C>ACA412359762CDKL5c.1168C>A (p.Pro390Thr)
c.1117C>A (p.Pro373Thr)
c.1036C>A (p.Pro346Thr)
n.1420C>A
Xg.18604092C>GCA412359764CDKL5c.1168C>G (p.Pro390Ala)
c.1117C>G (p.Pro373Ala)
c.1036C>G (p.Pro346Ala)
n.1420C>G
Xg.18604092C>TCA412359766CDKL5c.1168C>T (p.Pro390Ser)
c.1117C>T (p.Pro373Ser)
c.1036C>T (p.Pro346Ser)
n.1420C>T
Xg.18604093C>ACA412359768CDKL5c.1169C>A (p.Pro390His)
c.1118C>A (p.Pro373His)
c.1037C>A (p.Pro346His)
n.1421C>A
Xg.18604093C>GCA412359770CDKL5c.1169C>G (p.Pro390Arg)
c.1118C>G (p.Pro373Arg)
c.1037C>G (p.Pro346Arg)
n.1421C>G
Xg.18604093C>TCA412359772CDKL5c.1169C>T (p.Pro390Leu)
c.1118C>T (p.Pro373Leu)
c.1037C>T (p.Pro346Leu)
n.1421C>T
Xg.18604094T>ACA515627583CDKL5c.1170T>A (p.Pro390=)
c.1119T>A (p.Pro373=)
c.1038T>A (p.Pro346=)
n.1422T>A
Xg.18604094T>CCA515627581CDKL5c.1170T>C (p.Pro390=)
c.1119T>C (p.Pro373=)
c.1038T>C (p.Pro346=)
n.1422T>C
Xg.18604094T>GCA515627582CDKL5c.1170T>G (p.Pro390=)
c.1119T>G (p.Pro373=)
c.1038T>G (p.Pro346=)
n.1422T>G
 gnomAD v4
Xg.18604095G>ACA412359774CDKL5c.1171G>A (p.Gly391Arg)
c.1120G>A (p.Gly374Arg)
c.1039G>A (p.Gly347Arg)
n.1423G>A
Xg.18604095G>CCA412359776CDKL5c.1171G>C (p.Gly391Arg)
c.1120G>C (p.Gly374Arg)
c.1039G>C (p.Gly347Arg)
n.1423G>C
Xg.18604095G>TCA412359778CDKL5c.1171G>T (p.Gly391Trp)
c.1120G>T (p.Gly374Trp)
c.1039G>T (p.Gly347Trp)
n.1423G>T
Xg.18604096G>ACA412359783CDKL5c.1172G>A (p.Gly391Glu)
c.1121G>A (p.Gly374Glu)
c.1040G>A (p.Gly347Glu)
n.1424G>A
 dbSNP
Xg.18604096G>CCA412359780CDKL5c.1172G>C (p.Gly391Ala)
c.1121G>C (p.Gly374Ala)
c.1040G>C (p.Gly347Ala)
n.1424G>C
Xg.18604096G=CA2417973833CDKL5c.1172G= (p.Gly391=)
c.1121G= (p.Gly374=)
c.1040G= (p.Gly347=)
n.1424G=
Xg.18604096G>TCA412359782CDKL5c.1172G>T (p.Gly391Val)
c.1121G>T (p.Gly374Val)
c.1040G>T (p.Gly347Val)
n.1424G>T
Xg.18604097G>ACA515627584CDKL5c.1173G>A (p.Gly391=)
c.1122G>A (p.Gly374=)
c.1041G>A (p.Gly347=)
n.1425G>A
Xg.18604097G>CCA515627585CDKL5c.1173G>C (p.Gly391=)
c.1122G>C (p.Gly374=)
c.1041G>C (p.Gly347=)
n.1425G>C
Xg.18604097G>TCA515627586CDKL5c.1173G>T (p.Gly391=)
c.1122G>T (p.Gly374=)
c.1041G>T (p.Gly347=)
n.1425G>T
 COSMIC
Xg.18604098T>ACA412359786CDKL5c.1174T>A (p.Ser392Thr)
c.1123T>A (p.Ser375Thr)
c.1042T>A (p.Ser348Thr)
n.1426T>A
Xg.18604098T>CCA412359788CDKL5c.1174T>C (p.Ser392Pro)
c.1123T>C (p.Ser375Pro)
c.1042T>C (p.Ser348Pro)
n.1426T>C
Xg.18604098T>GCA412359789CDKL5c.1174T>G (p.Ser392Ala)
c.1123T>G (p.Ser375Ala)
c.1042T>G (p.Ser348Ala)
n.1426T>G
Xg.18604099C>ACA412359792CDKL5c.1175C>A (p.Ser392Tyr)
c.1124C>A (p.Ser375Tyr)
c.1043C>A (p.Ser348Tyr)
n.1427C>A
Xg.18604099C>GCA412359794CDKL5c.1175C>G (p.Ser392Cys)
c.1124C>G (p.Ser375Cys)
c.1043C>G (p.Ser348Cys)
n.1427C>G
Xg.18604099C>TCA412359795CDKL5c.1175C>T (p.Ser392Phe)
c.1124C>T (p.Ser375Phe)
c.1043C>T (p.Ser348Phe)
n.1427C>T
Xg.18604100T>ACA515627588CDKL5c.1176T>A (p.Ser392=)
c.1125T>A (p.Ser375=)
c.1044T>A (p.Ser348=)
n.1428T>A
Xg.18604100T>CCA515627587CDKL5c.1176T>C (p.Ser392=)
c.1125T>C (p.Ser375=)
c.1044T>C (p.Ser348=)
n.1428T>C
Xg.18604100T>GCA515627589CDKL5c.1176T>G (p.Ser392=)
c.1125T>G (p.Ser375=)
c.1044T>G (p.Ser348=)
n.1428T>G
Xg.18604101A=CA2417973834CDKL5c.1177A= (p.Thr393=)
c.1126A= (p.Thr376=)
c.1045A= (p.Thr349=)
n.1429A=
Xg.18604101A>CCA412359797CDKL5c.1177A>C (p.Thr393Pro)
c.1126A>C (p.Thr376Pro)
c.1045A>C (p.Thr349Pro)
n.1429A>C
Xg.18604101A>GCA412359799CDKL5c.1177A>G (p.Thr393Ala)
c.1126A>G (p.Thr376Ala)
c.1045A>G (p.Thr349Ala)
n.1429A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604101A>TCA412359800CDKL5c.1177A>T (p.Thr393Ser)
c.1126A>T (p.Thr376Ser)
c.1045A>T (p.Thr349Ser)
n.1429A>T
Xg.18604102C>ACA412359803CDKL5c.1178C>A (p.Thr393Asn)
c.1127C>A (p.Thr376Asn)
c.1046C>A (p.Thr349Asn)
n.1430C>A
Xg.18604102C>GCA412359805CDKL5c.1178C>G (p.Thr393Ser)
c.1127C>G (p.Thr376Ser)
c.1046C>G (p.Thr349Ser)
n.1430C>G
 gnomAD v4
Xg.18604102C>TCA412359806CDKL5c.1178C>T (p.Thr393Ile)
c.1127C>T (p.Thr376Ile)
c.1046C>T (p.Thr349Ile)
n.1430C>T
Xg.18604103C>ACA515627590CDKL5c.1179C>A (p.Thr393=)
c.1128C>A (p.Thr376=)
c.1047C>A (p.Thr349=)
n.1431C>A
Xg.18604103C>GCA515627592CDKL5c.1179C>G (p.Thr393=)
c.1128C>G (p.Thr376=)
c.1047C>G (p.Thr349=)
n.1431C>G
Xg.18604103C>TCA515627593CDKL5c.1179C>T (p.Thr393=)
c.1128C>T (p.Thr376=)
c.1047C>T (p.Thr349=)
n.1431C>T
Xg.18604104A>CCA412359810CDKL5c.1180A>C (p.Ser394Arg)
c.1129A>C (p.Ser377Arg)
c.1048A>C (p.Ser350Arg)
n.1432A>C
Xg.18604104A>GCA412359812CDKL5c.1180A>G (p.Ser394Gly)
c.1129A>G (p.Ser377Gly)
c.1048A>G (p.Ser350Gly)
n.1432A>G
Xg.18604104A>TCA412359808CDKL5c.1180A>T (p.Ser394Cys)
c.1129A>T (p.Ser377Cys)
c.1048A>T (p.Ser350Cys)
n.1432A>T
Xg.18604104_18604105dupCA2740092027CDKL5c.1180_1181dup (p.Ser394ArgfsTer?)
c.1129_1130dup (p.Ser377ArgfsTer?)
c.1048_1049dup (p.Ser350ArgfsTer?)
n.1432_1433dup
 ClinVar
Xg.18604105G>ACA412359814CDKL5c.1181G>A (p.Ser394Asn)
c.1130G>A (p.Ser377Asn)
c.1049G>A (p.Ser350Asn)
n.1433G>A
Xg.18604105G>CCA412359816CDKL5c.1181G>C (p.Ser394Thr)
c.1130G>C (p.Ser377Thr)
c.1049G>C (p.Ser350Thr)
n.1433G>C
Xg.18604105G>TCA412359817CDKL5c.1181G>T (p.Ser394Ile)
c.1130G>T (p.Ser377Ile)
c.1049G>T (p.Ser350Ile)
n.1433G>T
Xg.18604106C>ACA412359820CDKL5c.1182C>A (p.Ser394Arg)
c.1131C>A (p.Ser377Arg)
c.1050C>A (p.Ser350Arg)
n.1434C>A
Xg.18604106C>GCA412359822CDKL5c.1182C>G (p.Ser394Arg)
c.1131C>G (p.Ser377Arg)
c.1050C>G (p.Ser350Arg)
n.1434C>G
Xg.18604106C>TCA515627595CDKL5c.1182C>T (p.Ser394=)
c.1131C>T (p.Ser377=)
c.1050C>T (p.Ser350=)
n.1434C>T
Xg.18604107A>CCA412359824CDKL5c.1183A>C (p.Lys395Gln)
c.1132A>C (p.Lys378Gln)
c.1051A>C (p.Lys351Gln)
n.1435A>C
Xg.18604107A>GCA412359826CDKL5c.1183A>G (p.Lys395Glu)
c.1132A>G (p.Lys378Glu)
c.1051A>G (p.Lys351Glu)
n.1435A>G
Xg.18604107A>TCA412359827CDKL5c.1183A>T (p.Lys395Ter)
c.1132A>T (p.Lys378Ter)
c.1051A>T (p.Lys351Ter)
n.1435A>T
Xg.18604108A>CCA412359830CDKL5c.1184A>C (p.Lys395Thr)
c.1133A>C (p.Lys378Thr)
c.1052A>C (p.Lys351Thr)
n.1436A>C
Xg.18604108A>GCA412359832CDKL5c.1184A>G (p.Lys395Arg)
c.1133A>G (p.Lys378Arg)
c.1052A>G (p.Lys351Arg)
n.1436A>G
Xg.18604108A>TCA412359833CDKL5c.1184A>T (p.Lys395Ile)
c.1133A>T (p.Lys378Ile)
c.1052A>T (p.Lys351Ile)
n.1436A>T
Xg.18604109A>CCA412359836CDKL5c.1185A>C (p.Lys395Asn)
c.1134A>C (p.Lys378Asn)
c.1053A>C (p.Lys351Asn)
n.1437A>C
Xg.18604109A>GCA515627597CDKL5c.1185A>G (p.Lys395=)
c.1134A>G (p.Lys378=)
c.1053A>G (p.Lys351=)
n.1437A>G
Xg.18604109A>TCA412359838CDKL5c.1185A>T (p.Lys395Asn)
c.1134A>T (p.Lys378Asn)
c.1053A>T (p.Lys351Asn)
n.1437A>T
Xg.18604110G>ACA412359843CDKL5c.1186G>A (p.Asp396Asn)
c.1135G>A (p.Asp379Asn)
c.1054G>A (p.Asp352Asn)
n.1438G>A
 gnomAD v4
Xg.18604110G>CCA412359842CDKL5c.1186G>C (p.Asp396His)
c.1135G>C (p.Asp379His)
c.1054G>C (p.Asp352His)
n.1438G>C
Xg.18604110G>TCA412359841CDKL5c.1186G>T (p.Asp396Tyr)
c.1135G>T (p.Asp379Tyr)
c.1054G>T (p.Asp352Tyr)
n.1438G>T
Xg.18604111A>CCA412359846CDKL5c.1187A>C (p.Asp396Ala)
c.1136A>C (p.Asp379Ala)
c.1055A>C (p.Asp352Ala)
n.1439A>C
Xg.18604111A>GCA412359848CDKL5c.1187A>G (p.Asp396Gly)
c.1136A>G (p.Asp379Gly)
c.1055A>G (p.Asp352Gly)
n.1439A>G
Xg.18604111A>TCA412359849CDKL5c.1187A>T (p.Asp396Val)
c.1136A>T (p.Asp379Val)
c.1055A>T (p.Asp352Val)
n.1439A>T
Xg.18604112T>ACA10360362CDKL5c.1188T>A (p.Asp396Glu)
c.1137T>A (p.Asp379Glu)
c.1056T>A (p.Asp352Glu)
n.1440T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604112T>CCA515627601CDKL5c.1188T>C (p.Asp396=)
c.1137T>C (p.Asp379=)
c.1056T>C (p.Asp352=)
n.1440T>C
Xg.18604112T>GCA412359851CDKL5c.1188T>G (p.Asp396Glu)
c.1137T>G (p.Asp379Glu)
c.1056T>G (p.Asp352Glu)
n.1440T>G
 dbSNP
Xg.18604112T=CA2417973837CDKL5c.1188T= (p.Asp396=)
c.1137T= (p.Asp379=)
c.1056T= (p.Asp352=)
n.1440T=
Xg.18604113C>ACA412359853CDKL5c.1189C>A (p.Leu397Ile)
c.1138C>A (p.Leu380Ile)
c.1057C>A (p.Leu353Ile)
n.1441C>A
Xg.18604113C=CA2417973839CDKL5c.1189C= (p.Leu397=)
c.1138C= (p.Leu380=)
c.1057C= (p.Leu353=)
n.1441C=
Xg.18604113C>GCA412359855CDKL5c.1189C>G (p.Leu397Val)
c.1138C>G (p.Leu380Val)
c.1057C>G (p.Leu353Val)
n.1441C>G
 dbSNP
Xg.18604113C>TCA412359857CDKL5c.1189C>T (p.Leu397Phe)
c.1138C>T (p.Leu380Phe)
c.1057C>T (p.Leu353Phe)
n.1441C>T
Xg.18604114T>ACA412359859CDKL5c.1190T>A (p.Leu397His)
c.1139T>A (p.Leu380His)
c.1058T>A (p.Leu353His)
n.1442T>A
Xg.18604114T>CCA412359861CDKL5c.1190T>C (p.Leu397Pro)
c.1139T>C (p.Leu380Pro)
c.1058T>C (p.Leu353Pro)
n.1442T>C
Xg.18604114T>GCA412359863CDKL5c.1190T>G (p.Leu397Arg)
c.1139T>G (p.Leu380Arg)
c.1058T>G (p.Leu353Arg)
n.1442T>G
Xg.18604115C>ACA515627604CDKL5c.1191C>A (p.Leu397=)
c.1140C>A (p.Leu380=)
c.1059C>A (p.Leu353=)
n.1443C>A
Xg.18604115C>GCA515627603CDKL5c.1191C>G (p.Leu397=)
c.1140C>G (p.Leu380=)
c.1059C>G (p.Leu353=)
n.1443C>G
Xg.18604115C>TCA515627602CDKL5c.1191C>T (p.Leu397=)
c.1140C>T (p.Leu380=)
c.1059C>T (p.Leu353=)
n.1443C>T
Xg.18604116A=CA2417973843CDKL5c.1192A= (p.Thr398=)
c.1141A= (p.Thr381=)
c.1060A= (p.Thr354=)
n.1444A=
Xg.18604116A>CCA412359865CDKL5c.1192A>C (p.Thr398Pro)
c.1141A>C (p.Thr381Pro)
c.1060A>C (p.Thr354Pro)
n.1444A>C
Xg.18604116A>GCA326987735CDKL5c.1192A>G (p.Thr398Ala)
c.1141A>G (p.Thr381Ala)
c.1060A>G (p.Thr354Ala)
n.1444A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604116A>TCA412359867CDKL5c.1192A>T (p.Thr398Ser)
c.1141A>T (p.Thr381Ser)
c.1060A>T (p.Thr354Ser)
n.1444A>T
Xg.18604117C>ACA412359871CDKL5c.1193C>A (p.Thr398Asn)
c.1142C>A (p.Thr381Asn)
c.1061C>A (p.Thr354Asn)
n.1445C>A
Xg.18604117C>GCA412359873CDKL5c.1193C>G (p.Thr398Ser)
c.1142C>G (p.Thr381Ser)
c.1061C>G (p.Thr354Ser)
n.1445C>G
Xg.18604117C>TCA412359870CDKL5c.1193C>T (p.Thr398Ile)
c.1142C>T (p.Thr381Ile)
c.1061C>T (p.Thr354Ile)
n.1445C>T
Xg.18604118C>ACA515627606CDKL5c.1194C>A (p.Thr398=)
c.1143C>A (p.Thr381=)
c.1062C>A (p.Thr354=)
n.1446C>A
Xg.18604118C>GCA515627607CDKL5c.1194C>G (p.Thr398=)
c.1143C>G (p.Thr381=)
c.1062C>G (p.Thr354=)
n.1446C>G
Xg.18604118C>TCA515627608CDKL5c.1194C>T (p.Thr398=)
c.1143C>T (p.Thr381=)
c.1062C>T (p.Thr354=)
n.1446C>T
Xg.18604126_18604128delCA2693222668CDKL5c.1202_1204del (p.Asn401del)
c.1151_1153del (p.Asn384del)
c.1070_1072del (p.Asn357del)
n.1454_1456del
 gnomAD v4
Xg.18604119A>CCA412359875CDKL5c.1195A>C (p.Asn399His)
c.1144A>C (p.Asn382His)
c.1063A>C (p.Asn355His)
n.1447A>C
Xg.18604119A>GCA412359877CDKL5c.1195A>G (p.Asn399Asp)
c.1144A>G (p.Asn382Asp)
c.1063A>G (p.Asn355Asp)
n.1447A>G
Xg.18604119A>TCA412359879CDKL5c.1195A>T (p.Asn399Tyr)
c.1144A>T (p.Asn382Tyr)
c.1063A>T (p.Asn355Tyr)
n.1447A>T
Xg.18604120A=CA2417973847CDKL5c.1196A= (p.Asn399=)
c.1145A= (p.Asn382=)
c.1064A= (p.Asn355=)
n.1448A=
Xg.18604120A>CCA170438CDKL5c.1196A>C (p.Asn399Thr)
c.1145A>C (p.Asn382Thr)
c.1064A>C (p.Asn355Thr)
n.1448A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604120A>GCA412359882CDKL5c.1196A>G (p.Asn399Ser)
c.1145A>G (p.Asn382Ser)
c.1064A>G (p.Asn355Ser)
n.1448A>G
 ClinVar dbSNP
Xg.18604120A>TCA412359884CDKL5c.1196A>T (p.Asn399Ile)
c.1145A>T (p.Asn382Ile)
c.1064A>T (p.Asn355Ile)
n.1448A>T
Xg.18604121C>ACA412359886CDKL5c.1197C>A (p.Asn399Lys)
c.1146C>A (p.Asn382Lys)
c.1065C>A (p.Asn355Lys)
n.1449C>A
Xg.18604121C=CA2417973850CDKL5c.1197C= (p.Asn399=)
c.1146C= (p.Asn382=)
c.1065C= (p.Asn355=)
n.1449C=
Xg.18604121C>GCA412359888CDKL5c.1197C>G (p.Asn399Lys)
c.1146C>G (p.Asn382Lys)
c.1065C>G (p.Asn355Lys)
n.1449C>G
Xg.18604121C>TCA515627612CDKL5c.1197C>T (p.Asn399=)
c.1146C>T (p.Asn382=)
c.1065C>T (p.Asn355=)
n.1449C>T
 dbSNP gnomAD v4
Xg.18604122A=CA2417973861CDKL5c.1198A= (p.Asn400=)
c.1147A= (p.Asn383=)
c.1066A= (p.Asn356=)
n.1450A=
Xg.18604122A>CCA326987740CDKL5c.1198A>C (p.Asn400His)
c.1147A>C (p.Asn383His)
c.1066A>C (p.Asn356His)
n.1450A>C
 ClinVar dbSNP gnomAD v4
Xg.18604122A>GCA412359890CDKL5c.1198A>G (p.Asn400Asp)
c.1147A>G (p.Asn383Asp)
c.1066A>G (p.Asn356Asp)
n.1450A>G
Xg.18604122A>TCA412359892CDKL5c.1198A>T (p.Asn400Tyr)
c.1147A>T (p.Asn383Tyr)
c.1066A>T (p.Asn356Tyr)
n.1450A>T
Xg.18604123A>CCA412359894CDKL5c.1199A>C (p.Asn400Thr)
c.1148A>C (p.Asn383Thr)
c.1067A>C (p.Asn356Thr)
n.1451A>C
Xg.18604123A>GCA412359896CDKL5c.1199A>G (p.Asn400Ser)
c.1148A>G (p.Asn383Ser)
c.1067A>G (p.Asn356Ser)
n.1451A>G
Xg.18604123A>TCA412359897CDKL5c.1199A>T (p.Asn400Ile)
c.1148A>T (p.Asn383Ile)
c.1067A>T (p.Asn356Ile)
n.1451A>T
Xg.18604124C>ACA412359900CDKL5c.1200C>A (p.Asn400Lys)
c.1149C>A (p.Asn383Lys)
c.1068C>A (p.Asn356Lys)
n.1452C>A
Xg.18604124C>GCA412359902CDKL5c.1200C>G (p.Asn400Lys)
c.1149C>G (p.Asn383Lys)
c.1068C>G (p.Asn356Lys)
n.1452C>G
Xg.18604124C>TCA515627616CDKL5c.1200C>T (p.Asn400=)
c.1149C>T (p.Asn383=)
c.1068C>T (p.Asn356=)
n.1452C>T
Xg.18604125A>CCA412359903CDKL5c.1201A>C (p.Asn401His)
c.1150A>C (p.Asn384His)
c.1069A>C (p.Asn357His)
n.1453A>C
Xg.18604125A>GCA412359905CDKL5c.1201A>G (p.Asn401Asp)
c.1150A>G (p.Asn384Asp)
c.1069A>G (p.Asn357Asp)
n.1453A>G
Xg.18604125A>TCA412359907CDKL5c.1201A>T (p.Asn401Tyr)
c.1150A>T (p.Asn384Tyr)
c.1069A>T (p.Asn357Tyr)
n.1453A>T
Xg.18604126A=CA2417973864CDKL5c.1202A= (p.Asn401=)
c.1151A= (p.Asn384=)
c.1070A= (p.Asn357=)
n.1454A=
Xg.18604126A>CCA412359909CDKL5c.1202A>C (p.Asn401Thr)
c.1151A>C (p.Asn384Thr)
c.1070A>C (p.Asn357Thr)
n.1454A>C
Xg.18604126A>GCA412359911CDKL5c.1202A>G (p.Asn401Ser)
c.1151A>G (p.Asn384Ser)
c.1070A>G (p.Asn357Ser)
n.1454A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18604126A>TCA412359913CDKL5c.1202A>T (p.Asn401Ile)
c.1151A>T (p.Asn384Ile)
c.1070A>T (p.Asn357Ile)
n.1454A>T
Xg.18604127C>ACA412359915CDKL5c.1203C>A (p.Asn401Lys)
c.1152C>A (p.Asn384Lys)
c.1071C>A (p.Asn357Lys)
n.1455C>A
Xg.18604127C>GCA412359916CDKL5c.1203C>G (p.Asn401Lys)
c.1152C>G (p.Asn384Lys)
c.1071C>G (p.Asn357Lys)
n.1455C>G
Xg.18604127C>TCA515627620CDKL5c.1203C>T (p.Asn401=)
c.1152C>T (p.Asn384=)
c.1071C>T (p.Asn357=)
n.1455C>T
 gnomAD v4
Xg.18604128A>CCA412359919CDKL5c.1204A>C (p.Ile402Leu)
c.1153A>C (p.Ile385Leu)
c.1072A>C (p.Ile358Leu)
n.1456A>C
Xg.18604128A>GCA412359921CDKL5c.1204A>G (p.Ile402Val)
c.1153A>G (p.Ile385Val)
c.1072A>G (p.Ile358Val)
n.1456A>G
Xg.18604128A>TCA412359922CDKL5c.1204A>T (p.Ile402Leu)
c.1153A>T (p.Ile385Leu)
c.1072A>T (p.Ile358Leu)
n.1456A>T
Xg.18604129T>ACA10360363CDKL5c.1205T>A (p.Ile402Lys)
c.1154T>A (p.Ile385Lys)
c.1073T>A (p.Ile358Lys)
n.1457T>A
 dbSNP ExAC
Xg.18604129T>CCA412359926CDKL5c.1205T>C (p.Ile402Thr)
c.1154T>C (p.Ile385Thr)
c.1073T>C (p.Ile358Thr)
n.1457T>C
Xg.18604129T>GCA412359925CDKL5c.1205T>G (p.Ile402Arg)
c.1154T>G (p.Ile385Arg)
c.1073T>G (p.Ile358Arg)
n.1457T>G
Xg.18604129T=CA2417973866CDKL5c.1205T= (p.Ile402=)
c.1154T= (p.Ile385=)
c.1073T= (p.Ile358=)
n.1457T=
Xg.18604130A>CCA515627622CDKL5c.1206A>C (p.Ile402=)
c.1155A>C (p.Ile385=)
c.1074A>C (p.Ile358=)
n.1458A>C
Xg.18604130A>GCA412359928CDKL5c.1206A>G (p.Ile402Met)
c.1155A>G (p.Ile385Met)
c.1074A>G (p.Ile358Met)
n.1458A>G
Xg.18604130A>TCA515627623CDKL5c.1206A>T (p.Ile402=)
c.1155A>T (p.Ile385=)
c.1074A>T (p.Ile358=)
n.1458A>T
Xg.18604131C>ACA412359934CDKL5c.1207C>A (p.Pro403Thr)
c.1156C>A (p.Pro386Thr)
c.1075C>A (p.Pro359Thr)
n.1459C>A
Xg.18604131C=CA2417973868CDKL5c.1207C= (p.Pro403=)
c.1156C= (p.Pro386=)
c.1075C= (p.Pro359=)
n.1459C=
Xg.18604131C>GCA412359931CDKL5c.1207C>G (p.Pro403Ala)
c.1156C>G (p.Pro386Ala)
c.1075C>G (p.Pro359Ala)
n.1459C>G
Xg.18604131C>TCA412359932CDKL5c.1207C>T (p.Pro403Ser)
c.1156C>T (p.Pro386Ser)
c.1075C>T (p.Pro359Ser)
n.1459C>T
Xg.18604132delCA2580100406CDKL5c.1208del (p.Pro403HisfsTer?)
c.1157del (p.Pro386HisfsTer?)
c.1076del (p.Pro359HisfsTer?)
n.1460del
 ClinVar
Xg.18604132C>ACA412359937CDKL5c.1208C>A (p.Pro403Gln)
c.1157C>A (p.Pro386Gln)
c.1076C>A (p.Pro359Gln)
n.1460C>A
Xg.18604132C>GCA412359938CDKL5c.1208C>G (p.Pro403Arg)
c.1157C>G (p.Pro386Arg)
c.1076C>G (p.Pro359Arg)
n.1460C>G
Xg.18604132C>TCA412359940CDKL5c.1208C>T (p.Pro403Leu)
c.1157C>T (p.Pro386Leu)
c.1076C>T (p.Pro359Leu)
n.1460C>T
Xg.18604135_18604136dupCA16621277CDKL5c.1211_1212dup (p.Leu405ThrfsTer?)
c.1160_1161dup (p.Leu388ThrfsTer?)
c.1079_1080dup (p.Leu361ThrfsTer?)
n.1463_1464dup
 ClinVar dbSNP
Xg.18604133A=CA2417973874CDKL5c.1209A= (p.Pro403=)
c.1158A= (p.Pro386=)
c.1077A= (p.Pro359=)
n.1461A=
Xg.18604133A>CCA515627625CDKL5c.1209A>C (p.Pro403=)
c.1158A>C (p.Pro386=)
c.1077A>C (p.Pro359=)
n.1461A>C
Xg.18604133A>GCA10360364CDKL5c.1209A>G (p.Pro403=)
c.1158A>G (p.Pro386=)
c.1077A>G (p.Pro359=)
n.1461A>G
 dbSNP ExAC
Xg.18604133A>TCA515627626CDKL5c.1209A>T (p.Pro403=)
c.1158A>T (p.Pro386=)
c.1077A>T (p.Pro359=)
n.1461A>T
Xg.18604134C>ACA412359945CDKL5c.1210C>A (p.His404Asn)
c.1159C>A (p.His387Asn)
c.1078C>A (p.His360Asn)
n.1462C>A
Xg.18604134C>GCA412359943CDKL5c.1210C>G (p.His404Asp)
c.1159C>G (p.His387Asp)
c.1078C>G (p.His360Asp)
n.1462C>G
Xg.18604134C>TCA412359942CDKL5c.1210C>T (p.His404Tyr)
c.1159C>T (p.His387Tyr)
c.1078C>T (p.His360Tyr)
n.1462C>T
Xg.18604135A>CCA412359947CDKL5c.1211A>C (p.His404Pro)
c.1160A>C (p.His387Pro)
c.1079A>C (p.His360Pro)
n.1463A>C
Xg.18604135A>GCA412359948CDKL5c.1211A>G (p.His404Arg)
c.1160A>G (p.His387Arg)
c.1079A>G (p.His360Arg)
n.1463A>G
Xg.18604135A>TCA412359950CDKL5c.1211A>T (p.His404Leu)
c.1160A>T (p.His387Leu)
c.1079A>T (p.His360Leu)
n.1463A>T
Xg.18604136C>ACA412359953CDKL5c.1212C>A (p.His404Gln)
c.1161C>A (p.His387Gln)
c.1080C>A (p.His360Gln)
n.1464C>A
Xg.18604136C>GCA412359954CDKL5c.1212C>G (p.His404Gln)
c.1161C>G (p.His387Gln)
c.1080C>G (p.His360Gln)
n.1464C>G
Xg.18604136C>TCA515627631CDKL5c.1212C>T (p.His404=)
c.1161C>T (p.His387=)
c.1080C>T (p.His360=)
n.1464C>T
 gnomAD v4
Xg.18604136_18604139delinsCCTTCA2417973880CDKL5c.1212_1215delinsCCTT (p.His404=)
c.1161_1164delinsCCTT (p.His387=)
c.1080_1083delinsCCTT (p.His360=)
n.1464_1467delinsCCTT
Xg.18604138_18604146delCA2819902067CDKL5c.1214_1222del (p.Leu405_Ser407del)
c.1163_1171del (p.Leu388_Ser390del)
c.1082_1090del (p.Leu361_Ser363del)
n.1466_1474del
Xg.18604137C>ACA412359963CDKL5c.1213C>A (p.Leu405Ile)
c.1162C>A (p.Leu388Ile)
c.1081C>A (p.Leu361Ile)
n.1465C>A
Xg.18604137C=CA2417973884CDKL5c.1213C= (p.Leu405=)
c.1162C= (p.Leu388=)
c.1081C= (p.Leu361=)
n.1465C=
Xg.18604137C>GCA412359962CDKL5c.1213C>G (p.Leu405Val)
c.1162C>G (p.Leu388Val)
c.1081C>G (p.Leu361Val)
n.1465C>G
 ClinVar dbSNP gnomAD v4
Xg.18604137C>TCA412359958CDKL5c.1213C>T (p.Leu405Phe)
c.1162C>T (p.Leu388Phe)
c.1081C>T (p.Leu361Phe)
n.1465C>T
Xg.18604140_18604142delCA10360365CDKL5c.1216_1218del (p.Leu406del)
c.1165_1167del (p.Leu389del)
c.1084_1086del (p.Leu362del)
n.1468_1470del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604138T>ACA412359965CDKL5c.1214T>A (p.Leu405His)
c.1163T>A (p.Leu388His)
c.1082T>A (p.Leu361His)
n.1466T>A
Xg.18604138T>CCA412359967CDKL5c.1214T>C (p.Leu405Pro)
c.1163T>C (p.Leu388Pro)
c.1082T>C (p.Leu361Pro)
n.1466T>C
Xg.18604138T>GCA412359968CDKL5c.1214T>G (p.Leu405Arg)
c.1163T>G (p.Leu388Arg)
c.1082T>G (p.Leu361Arg)
n.1466T>G
Xg.18604139T>ACA515627634CDKL5c.1215T>A (p.Leu405=)
c.1164T>A (p.Leu388=)
c.1083T>A (p.Leu361=)
n.1467T>A
Xg.18604139T>CCA515627635CDKL5c.1215T>C (p.Leu405=)
c.1164T>C (p.Leu388=)
c.1083T>C (p.Leu361=)
n.1467T>C
Xg.18604139T>GCA515627636CDKL5c.1215T>G (p.Leu405=)
c.1164T>G (p.Leu388=)
c.1083T>G (p.Leu361=)
n.1467T>G
Xg.18604140C>ACA412359970CDKL5c.1216C>A (p.Leu406Ile)
c.1165C>A (p.Leu389Ile)
c.1084C>A (p.Leu362Ile)
n.1468C>A
Xg.18604140C>GCA412359972CDKL5c.1216C>G (p.Leu406Val)
c.1165C>G (p.Leu389Val)
c.1084C>G (p.Leu362Val)
n.1468C>G
Xg.18604140C>TCA412359974CDKL5c.1216C>T (p.Leu406Phe)
c.1165C>T (p.Leu389Phe)
c.1084C>T (p.Leu362Phe)
n.1468C>T
 gnomAD v4
Xg.18604141T>ACA412359975CDKL5c.1217T>A (p.Leu406His)
c.1166T>A (p.Leu389His)
c.1085T>A (p.Leu362His)
n.1469T>A
Xg.18604141T>CCA412359976CDKL5c.1217T>C (p.Leu406Pro)
c.1166T>C (p.Leu389Pro)
c.1085T>C (p.Leu362Pro)
n.1469T>C
Xg.18604141T>GCA412359978CDKL5c.1217T>G (p.Leu406Arg)
c.1166T>G (p.Leu389Arg)
c.1085T>G (p.Leu362Arg)
n.1469T>G
Xg.18604142T>ACA515627638CDKL5c.1218T>A (p.Leu406=)
c.1167T>A (p.Leu389=)
c.1086T>A (p.Leu362=)
n.1470T>A
Xg.18604142T>CCA515627637CDKL5c.1218T>C (p.Leu406=)
c.1167T>C (p.Leu389=)
c.1086T>C (p.Leu362=)
n.1470T>C
Xg.18604142T>GCA515627640CDKL5c.1218T>G (p.Leu406=)
c.1167T>G (p.Leu389=)
c.1086T>G (p.Leu362=)
n.1470T>G
Xg.18604143A>CCA412359979CDKL5c.1219A>C (p.Ser407Arg)
c.1168A>C (p.Ser390Arg)
c.1087A>C (p.Ser363Arg)
n.1471A>C
Xg.18604143A>GCA412359980CDKL5c.1219A>G (p.Ser407Gly)
c.1168A>G (p.Ser390Gly)
c.1087A>G (p.Ser363Gly)
n.1471A>G
Xg.18604143A>TCA412359981CDKL5c.1219A>T (p.Ser407Cys)
c.1168A>T (p.Ser390Cys)
c.1087A>T (p.Ser363Cys)
n.1471A>T
Xg.18604144G>ACA412359984CDKL5c.1220G>A (p.Ser407Asn)
c.1169G>A (p.Ser390Asn)
c.1088G>A (p.Ser363Asn)
n.1472G>A
Xg.18604144G>CCA412359987CDKL5c.1220G>C (p.Ser407Thr)
c.1169G>C (p.Ser390Thr)
c.1088G>C (p.Ser363Thr)
n.1472G>C
Xg.18604144G>TCA412359986CDKL5c.1220G>T (p.Ser407Ile)
c.1169G>T (p.Ser390Ile)
c.1088G>T (p.Ser363Ile)
n.1472G>T
Xg.18604145C>ACA412359989CDKL5c.1221C>A (p.Ser407Arg)
c.1170C>A (p.Ser390Arg)
c.1089C>A (p.Ser363Arg)
n.1473C>A
Xg.18604145C>GCA412359991CDKL5c.1221C>G (p.Ser407Arg)
c.1170C>G (p.Ser390Arg)
c.1089C>G (p.Ser363Arg)
n.1473C>G
Xg.18604145C>TCA515627645CDKL5c.1221C>T (p.Ser407=)
c.1170C>T (p.Ser390=)
c.1089C>T (p.Ser363=)
n.1473C>T
Xg.18604146C>ACA412359993CDKL5c.1222C>A (p.Pro408Thr)
c.1171C>A (p.Pro391Thr)
c.1090C>A (p.Pro364Thr)
n.1474C>A
Xg.18604146C>GCA412359994CDKL5c.1222C>G (p.Pro408Ala)
c.1171C>G (p.Pro391Ala)
c.1090C>G (p.Pro364Ala)
n.1474C>G
Xg.18604146C>TCA412359997CDKL5c.1222C>T (p.Pro408Ser)
c.1171C>T (p.Pro391Ser)
c.1090C>T (p.Pro364Ser)
n.1474C>T
Xg.18604147C>ACA412359999CDKL5c.1223C>A (p.Pro408Gln)
c.1172C>A (p.Pro391Gln)
c.1091C>A (p.Pro364Gln)
n.1475C>A
Xg.18604147C>GCA412360000CDKL5c.1223C>G (p.Pro408Arg)
c.1172C>G (p.Pro391Arg)
c.1091C>G (p.Pro364Arg)
n.1475C>G
Xg.18604147C>TCA412360002CDKL5c.1223C>T (p.Pro408Leu)
c.1172C>T (p.Pro391Leu)
c.1091C>T (p.Pro364Leu)
n.1475C>T
Xg.18604148A>CCA515627650CDKL5c.1224A>C (p.Pro408=)
c.1173A>C (p.Pro391=)
c.1092A>C (p.Pro364=)
n.1476A>C
Xg.18604148A>GCA515627651CDKL5c.1224A>G (p.Pro408=)
c.1173A>G (p.Pro391=)
c.1092A>G (p.Pro364=)
n.1476A>G
Xg.18604148A>TCA515627653CDKL5c.1224A>T (p.Pro408=)
c.1173A>T (p.Pro391=)
c.1092A>T (p.Pro364=)
n.1476A>T
Xg.18604149A=CA2417973887CDKL5c.1225A= (p.Lys409=)
c.1174A= (p.Lys392=)
c.1093A= (p.Lys365=)
n.1477A=
Xg.18604149A>CCA412360005CDKL5c.1225A>C (p.Lys409Gln)
c.1174A>C (p.Lys392Gln)
c.1093A>C (p.Lys365Gln)
n.1477A>C
Xg.18604149A>GCA10360366CDKL5c.1225A>G (p.Lys409Glu)
c.1174A>G (p.Lys392Glu)
c.1093A>G (p.Lys365Glu)
n.1477A>G
 dbSNP ExAC gnomAD v2
Xg.18604149A>TCA412360007CDKL5c.1225A>T (p.Lys409Ter)
c.1174A>T (p.Lys392Ter)
c.1093A>T (p.Lys365Ter)
n.1477A>T
Xg.18604150A>CCA412360009CDKL5c.1226A>C (p.Lys409Thr)
c.1175A>C (p.Lys392Thr)
c.1094A>C (p.Lys365Thr)
n.1478A>C
Xg.18604150A>GCA412360010CDKL5c.1226A>G (p.Lys409Arg)
c.1175A>G (p.Lys392Arg)
c.1094A>G (p.Lys365Arg)
n.1478A>G
Xg.18604150A>TCA412360012CDKL5c.1226A>T (p.Lys409Ile)
c.1175A>T (p.Lys392Ile)
c.1094A>T (p.Lys365Ile)
n.1478A>T
Xg.18604151A>CCA412360014CDKL5c.1227A>C (p.Lys409Asn)
c.1176A>C (p.Lys392Asn)
c.1095A>C (p.Lys365Asn)
n.1479A>C
Xg.18604151A>GCA515627657CDKL5c.1227A>G (p.Lys409=)
c.1176A>G (p.Lys392=)
c.1095A>G (p.Lys365=)
n.1479A>G
Xg.18604151A>TCA412360016CDKL5c.1227A>T (p.Lys409Asn)
c.1176A>T (p.Lys392Asn)
c.1095A>T (p.Lys365Asn)
n.1479A>T
Xg.18604152G>ACA412360018CDKL5c.1228G>A (p.Glu410Lys)
c.1177G>A (p.Glu393Lys)
c.1096G>A (p.Glu366Lys)
n.1480G>A
Xg.18604152G>CCA412360020CDKL5c.1228G>C (p.Glu410Gln)
c.1177G>C (p.Glu393Gln)
c.1096G>C (p.Glu366Gln)
n.1480G>C
Xg.18604152G>TCA412360022CDKL5c.1228G>T (p.Glu410Ter)
c.1177G>T (p.Glu393Ter)
c.1096G>T (p.Glu366Ter)
n.1480G>T
Xg.18604153A>CCA412360024CDKL5c.1229A>C (p.Glu410Ala)
c.1178A>C (p.Glu393Ala)
c.1097A>C (p.Glu366Ala)
n.1481A>C
Xg.18604153A>GCA412360026CDKL5c.1229A>G (p.Glu410Gly)
c.1178A>G (p.Glu393Gly)
c.1097A>G (p.Glu366Gly)
n.1481A>G
Xg.18604153A>TCA412360028CDKL5c.1229A>T (p.Glu410Val)
c.1178A>T (p.Glu393Val)
c.1097A>T (p.Glu366Val)
n.1481A>T
Xg.18604154A=CA2417973890CDKL5c.1230A= (p.Glu410=)
c.1179A= (p.Glu393=)
c.1098A= (p.Glu366=)
n.1482A=
Xg.18604154A>CCA10360367CDKL5c.1230A>C (p.Glu410Asp)
c.1179A>C (p.Glu393Asp)
c.1098A>C (p.Glu366Asp)
n.1482A>C
 ClinVar dbSNP ExAC gnomAD v2
Xg.18604154A>GCA515627663CDKL5c.1230A>G (p.Glu410=)
c.1179A>G (p.Glu393=)
c.1098A>G (p.Glu366=)
n.1482A>G
Xg.18604154A>TCA412360031CDKL5c.1230A>T (p.Glu410Asp)
c.1179A>T (p.Glu393Asp)
c.1098A>T (p.Glu366Asp)
n.1482A>T
 ClinVar
Xg.18604155G>ACA412360033CDKL5c.1231G>A (p.Ala411Thr)
c.1180G>A (p.Ala394Thr)
c.1099G>A (p.Ala367Thr)
n.1483G>A
Xg.18604155G>CCA412360035CDKL5c.1231G>C (p.Ala411Pro)
c.1180G>C (p.Ala394Pro)
c.1099G>C (p.Ala367Pro)
n.1483G>C
Xg.18604155G>TCA412360037CDKL5c.1231G>T (p.Ala411Ser)
c.1180G>T (p.Ala394Ser)
c.1099G>T (p.Ala367Ser)
n.1483G>T
Xg.18604156C>ACA412360039CDKL5c.1232C>A (p.Ala411Asp)
c.1181C>A (p.Ala394Asp)
c.1100C>A (p.Ala367Asp)
n.1484C>A
Xg.18604156C>GCA412360043CDKL5c.1232C>G (p.Ala411Gly)
c.1181C>G (p.Ala394Gly)
c.1100C>G (p.Ala367Gly)
n.1484C>G
 gnomAD v4
Xg.18604156C>TCA412360041CDKL5c.1232C>T (p.Ala411Val)
c.1181C>T (p.Ala394Val)
c.1100C>T (p.Ala367Val)
n.1484C>T
Xg.18604157C>ACA515627664CDKL5c.1233C>A (p.Ala411=)
c.1182C>A (p.Ala394=)
c.1101C>A (p.Ala367=)
n.1485C>A
Xg.18604157C=CA2417973894CDKL5c.1233C= (p.Ala411=)
c.1182C= (p.Ala394=)
c.1101C= (p.Ala367=)
n.1485C=
Xg.18604157C>GCA515627667CDKL5c.1233C>G (p.Ala411=)
c.1182C>G (p.Ala394=)
c.1101C>G (p.Ala367=)
n.1485C>G
 gnomAD v4
Xg.18604157C>TCA326987748CDKL5c.1233C>T (p.Ala411=)
c.1182C>T (p.Ala394=)
c.1101C>T (p.Ala367=)
n.1485C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604158A=CA2417973898CDKL5c.1234A= (p.Lys412=)
c.1183A= (p.Lys395=)
c.1102A= (p.Lys368=)
n.1486A=
Xg.18604158A>CCA412360045CDKL5c.1234A>C (p.Lys412Gln)
c.1183A>C (p.Lys395Gln)
c.1102A>C (p.Lys368Gln)
n.1486A>C
Xg.18604158A>GCA10360368CDKL5c.1234A>G (p.Lys412Glu)
c.1183A>G (p.Lys395Glu)
c.1102A>G (p.Lys368Glu)
n.1486A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604158A>TCA412360047CDKL5c.1234A>T (p.Lys412Ter)
c.1183A>T (p.Lys395Ter)
c.1102A>T (p.Lys368Ter)
n.1486A>T
Xg.18604159A>CCA412360050CDKL5c.1235A>C (p.Lys412Thr)
c.1184A>C (p.Lys395Thr)
c.1103A>C (p.Lys368Thr)
n.1487A>C
Xg.18604159A>GCA412360051CDKL5c.1235A>G (p.Lys412Arg)
c.1184A>G (p.Lys395Arg)
c.1103A>G (p.Lys368Arg)
n.1487A>G
Xg.18604159A>TCA412360053CDKL5c.1235A>T (p.Lys412Met)
c.1184A>T (p.Lys395Met)
c.1103A>T (p.Lys368Met)
n.1487A>T
Xg.18604160G>ACA515627669CDKL5c.1236G>A (p.Lys412=)
c.1185G>A (p.Lys395=)
c.1104G>A (p.Lys368=)
n.1488G>A
Xg.18604160G>CCA412360055CDKL5c.1236G>C (p.Lys412Asn)
c.1185G>C (p.Lys395Asn)
c.1104G>C (p.Lys368Asn)
n.1488G>C
Xg.18604160G>TCA412360056CDKL5c.1236G>T (p.Lys412Asn)
c.1185G>T (p.Lys395Asn)
c.1104G>T (p.Lys368Asn)
n.1488G>T
Xg.18604161T>ACA412360059CDKL5c.1237T>A (p.Ser413Thr)
c.1186T>A (p.Ser396Thr)
c.1105T>A (p.Ser369Thr)
n.1489T>A
Xg.18604161T>CCA412360061CDKL5c.1237T>C (p.Ser413Pro)
c.1186T>C (p.Ser396Pro)
c.1105T>C (p.Ser369Pro)
n.1489T>C
Xg.18604161T>GCA412360062CDKL5c.1237T>G (p.Ser413Ala)
c.1186T>G (p.Ser396Ala)
c.1105T>G (p.Ser369Ala)
n.1489T>G

Number of alleles fetched