Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18603975_18603976del | CA2843744756 | CDKL5 | c.1051_1052del (p.Val351ArgfsTer6) c.1000_1001del (p.Val334ArgfsTer6) c.919_920del (p.Val307ArgfsTer6) n.1303_1304del | |
X | g.18603976T>A | CA412359147 | CDKL5 | c.1052T>A (p.Val351Glu) c.1001T>A (p.Val334Glu) c.920T>A (p.Val307Glu) n.1304T>A | |
X | g.18603976T>C | CA412359150 | CDKL5 | c.1052T>C (p.Val351Ala) c.1001T>C (p.Val334Ala) c.920T>C (p.Val307Ala) n.1304T>C | |
X | g.18603976T>G | CA412359153 | CDKL5 | c.1052T>G (p.Val351Gly) c.1001T>G (p.Val334Gly) c.920T>G (p.Val307Gly) n.1304T>G | |
X | g.18603977A>C | CA515471979 | CDKL5 | c.1053A>C (p.Val351=) c.1002A>C (p.Val334=) c.921A>C (p.Val307=) n.1305A>C | |
X | g.18603977A>G | CA515471980 | CDKL5 | c.1053A>G (p.Val351=) c.1002A>G (p.Val334=) c.921A>G (p.Val307=) n.1305A>G | |
X | g.18603977A>T | CA515471981 | CDKL5 | c.1053A>T (p.Val351=) c.1002A>T (p.Val334=) c.921A>T (p.Val307=) n.1305A>T | |
X | g.18603977_18603980dup | CA2499226535 | CDKL5 | c.1053_1056dup (p.Leu353ArgfsTer6) c.1002_1005dup (p.Leu336ArgfsTer6) c.921_924dup (p.Leu309ArgfsTer6) n.1305_1308dup | ClinVar dbSNP |
X | g.18603978G>A | CA412359156 | CDKL5 | c.1054G>A (p.Gly352Ser) c.1003G>A (p.Gly335Ser) c.922G>A (p.Gly308Ser) n.1306G>A | |
X | g.18603978G>C | CA10360342 | CDKL5 | c.1054G>C (p.Gly352Arg) c.1003G>C (p.Gly335Arg) c.922G>C (p.Gly308Arg) n.1306G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18603978G= | CA2417974367 | CDKL5 | c.1054G= (p.Gly352=) c.1003G= (p.Gly335=) c.922G= (p.Gly308=) n.1306G= | |
X | g.18603978G>T | CA412359161 | CDKL5 | c.1054G>T (p.Gly352Cys) c.1003G>T (p.Gly335Cys) c.922G>T (p.Gly308Cys) n.1306G>T | |
X | g.18603979G>A | CA412359164 | CDKL5 | c.1055G>A (p.Gly352Asp) c.1004G>A (p.Gly335Asp) c.923G>A (p.Gly308Asp) n.1307G>A | gnomAD v4 |
X | g.18603979G>C | CA412359167 | CDKL5 | c.1055G>C (p.Gly352Ala) c.1004G>C (p.Gly335Ala) c.923G>C (p.Gly308Ala) n.1307G>C | |
X | g.18603979G>T | CA412359170 | CDKL5 | c.1055G>T (p.Gly352Val) c.1004G>T (p.Gly335Val) c.923G>T (p.Gly308Val) n.1307G>T | |
X | g.18603980C>A | CA515471982 | CDKL5 | c.1056C>A (p.Gly352=) c.1005C>A (p.Gly335=) c.924C>A (p.Gly308=) n.1308C>A | |
X | g.18603980C>G | CA515471983 | CDKL5 | c.1056C>G (p.Gly352=) c.1005C>G (p.Gly335=) c.924C>G (p.Gly308=) n.1308C>G | |
X | g.18603980C>T | CA515471984 | CDKL5 | c.1056C>T (p.Gly352=) c.1005C>T (p.Gly335=) c.924C>T (p.Gly308=) n.1308C>T | gnomAD v4 |
X | g.18603981C>A | CA412359173 | CDKL5 | c.1057C>A (p.Leu353Met) c.1006C>A (p.Leu336Met) c.925C>A (p.Leu309Met) n.1309C>A | |
X | g.18603981C= | CA2417974368 | CDKL5 | c.1057C= (p.Leu353=) c.1006C= (p.Leu336=) c.925C= (p.Leu309=) n.1309C= | |
X | g.18603981C>G | CA412359176 | CDKL5 | c.1057C>G (p.Leu353Val) c.1006C>G (p.Leu336Val) c.925C>G (p.Leu309Val) n.1309C>G | |
X | g.18603981C>T | CA515471985 | CDKL5 | c.1057C>T (p.Leu353=) c.1006C>T (p.Leu336=) c.925C>T (p.Leu309=) n.1309C>T | dbSNP gnomAD v4 |
X | g.18603982T>A | CA412359185 | CDKL5 | c.1058T>A (p.Leu353Gln) c.1007T>A (p.Leu336Gln) c.926T>A (p.Leu309Gln) n.1310T>A | |
X | g.18603982T>C | CA412359184 | CDKL5 | c.1058T>C (p.Leu353Pro) c.1007T>C (p.Leu336Pro) c.926T>C (p.Leu309Pro) n.1310T>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18603982T>G | CA412359181 | CDKL5 | c.1058T>G (p.Leu353Arg) c.1007T>G (p.Leu336Arg) c.926T>G (p.Leu309Arg) n.1310T>G | |
X | g.18603982T= | CA2417974369 | CDKL5 | c.1058T= (p.Leu353=) c.1007T= (p.Leu336=) c.926T= (p.Leu309=) n.1310T= | |
X | g.18603983G>A | CA515627442 | CDKL5 | c.1059G>A (p.Leu353=) c.1008G>A (p.Leu336=) c.927G>A (p.Leu309=) n.1311G>A | gnomAD v4 |
X | g.18603983G>C | CA515627444 | CDKL5 | c.1059G>C (p.Leu353=) c.1008G>C (p.Leu336=) c.927G>C (p.Leu309=) n.1311G>C | |
X | g.18603983G>T | CA515627445 | CDKL5 | c.1059G>T (p.Leu353=) c.1008G>T (p.Leu336=) c.927G>T (p.Leu309=) n.1311G>T | gnomAD v4 |
X | g.18603983_18603986del | CA2693222664 | CDKL5 | c.1059_1062del (p.Pro354GlyfsTer13) c.1008_1011del (p.Pro337GlyfsTer13) c.927_930del (p.Pro310GlyfsTer13) n.1311_1314del | gnomAD v4 |
X | g.18603984C>A | CA412359188 | CDKL5 | c.1060C>A (p.Pro354Thr) c.1009C>A (p.Pro337Thr) c.928C>A (p.Pro310Thr) n.1312C>A | |
X | g.18603984C= | CA2417974370 | CDKL5 | c.1060C= (p.Pro354=) c.1009C= (p.Pro337=) c.928C= (p.Pro310=) n.1312C= | |
X | g.18603984C>G | CA412359190 | CDKL5 | c.1060C>G (p.Pro354Ala) c.1009C>G (p.Pro337Ala) c.928C>G (p.Pro310Ala) n.1312C>G | |
X | g.18603984C>T | CA16621276 | CDKL5 | c.1060C>T (p.Pro354Ser) c.1009C>T (p.Pro337Ser) c.928C>T (p.Pro310Ser) n.1312C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18603985C>A | CA412359194 | CDKL5 | c.1061C>A (p.Pro354His) c.1010C>A (p.Pro337His) c.929C>A (p.Pro310His) n.1313C>A | |
X | g.18603985C>G | CA412359197 | CDKL5 | c.1061C>G (p.Pro354Arg) c.1010C>G (p.Pro337Arg) c.929C>G (p.Pro310Arg) n.1313C>G | |
X | g.18603985C>T | CA412359199 | CDKL5 | c.1061C>T (p.Pro354Leu) c.1010C>T (p.Pro337Leu) c.929C>T (p.Pro310Leu) n.1313C>T | COSMIC |
X | g.18603986C>A | CA515627446 | CDKL5 | c.1062C>A (p.Pro354=) c.1011C>A (p.Pro337=) c.930C>A (p.Pro310=) n.1314C>A | |
X | g.18603986C= | CA2417974371 | CDKL5 | c.1062C= (p.Pro354=) c.1011C= (p.Pro337=) c.930C= (p.Pro310=) n.1314C= | |
X | g.18603986C>G | CA515627447 | CDKL5 | c.1062C>G (p.Pro354=) c.1011C>G (p.Pro337=) c.930C>G (p.Pro310=) n.1314C>G | |
X | g.18603986C>T | CA515627448 | CDKL5 | c.1062C>T (p.Pro354=) c.1011C>T (p.Pro337=) c.930C>T (p.Pro310=) n.1314C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18603987C>A | CA515627449 | CDKL5 | c.1063C>A (p.Arg355=) c.1012C>A (p.Arg338=) c.931C>A (p.Arg311=) n.1315C>A | |
X | g.18603987C= | CA2417974372 | CDKL5 | c.1063C= (p.Arg355=) c.1012C= (p.Arg338=) c.931C= (p.Arg311=) n.1315C= | |
X | g.18603987C>G | CA412359205 | CDKL5 | c.1063C>G (p.Arg355Gly) c.1012C>G (p.Arg338Gly) c.931C>G (p.Arg311Gly) n.1315C>G | gnomAD v4 |
X | g.18603987C>T | CA412359207 | CDKL5 | c.1063C>T (p.Arg355Trp) c.1012C>T (p.Arg338Trp) c.931C>T (p.Arg311Trp) n.1315C>T | dbSNP gnomAD v4 COSMIC |
X | g.18603988G>A | CA10360343 | CDKL5 | c.1064G>A (p.Arg355Gln) c.1013G>A (p.Arg338Gln) c.932G>A (p.Arg311Gln) n.1316G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18603988G>C | CA412359212 | CDKL5 | c.1064G>C (p.Arg355Pro) c.1013G>C (p.Arg338Pro) c.932G>C (p.Arg311Pro) n.1316G>C | |
X | g.18603988G= | CA2417974373 | CDKL5 | c.1064G= (p.Arg355=) c.1013G= (p.Arg338=) c.932G= (p.Arg311=) n.1316G= | |
X | g.18603988G>T | CA412359215 | CDKL5 | c.1064G>T (p.Arg355Leu) c.1013G>T (p.Arg338Leu) c.932G>T (p.Arg311Leu) n.1316G>T | |
X | g.18603990dup | CA2573158474 | CDKL5 | c.1066dup (p.Ala356GlyfsTer2) c.1015dup (p.Ala339GlyfsTer2) c.934dup (p.Ala312GlyfsTer2) n.1318dup | ClinVar dbSNP |
X | g.18603989G>A | CA515627450 | CDKL5 | c.1065G>A (p.Arg355=) c.1014G>A (p.Arg338=) c.933G>A (p.Arg311=) n.1317G>A | |
X | g.18603989G>C | CA515627452 | CDKL5 | c.1065G>C (p.Arg355=) c.1014G>C (p.Arg338=) c.933G>C (p.Arg311=) n.1317G>C | gnomAD v4 |
X | g.18603989G>T | CA515627453 | CDKL5 | c.1065G>T (p.Arg355=) c.1014G>T (p.Arg338=) c.933G>T (p.Arg311=) n.1317G>T | |
X | g.18603990G>A | CA412359221 | CDKL5 | c.1066G>A (p.Ala356Thr) c.1015G>A (p.Ala339Thr) c.934G>A (p.Ala312Thr) n.1318G>A | |
X | g.18603990G>C | CA10360344 | CDKL5 | c.1066G>C (p.Ala356Pro) c.1015G>C (p.Ala339Pro) c.934G>C (p.Ala312Pro) n.1318G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18603990G= | CA2417974374 | CDKL5 | c.1066G= (p.Ala356=) c.1015G= (p.Ala339=) c.934G= (p.Ala312=) n.1318G= | |
X | g.18603990G>T | CA412359218 | CDKL5 | c.1066G>T (p.Ala356Ser) c.1015G>T (p.Ala339Ser) c.934G>T (p.Ala312Ser) n.1318G>T | |
X | g.18603990_18603991del | CA2693222665 | CDKL5 | c.1066_1067del (p.Ala356Ter) c.1015_1016del (p.Ala339Ter) c.934_935del (p.Ala312Ter) n.1318_1319del | gnomAD v4 |
X | g.18603991C>A | CA412359225 | CDKL5 | c.1067C>A (p.Ala356Asp) c.1016C>A (p.Ala339Asp) c.935C>A (p.Ala312Asp) n.1319C>A | |
X | g.18603991C>G | CA412359227 | CDKL5 | c.1067C>G (p.Ala356Gly) c.1016C>G (p.Ala339Gly) c.935C>G (p.Ala312Gly) n.1319C>G | gnomAD v4 |
X | g.18603991C>T | CA412359229 | CDKL5 | c.1067C>T (p.Ala356Val) c.1016C>T (p.Ala339Val) c.935C>T (p.Ala312Val) n.1319C>T | |
X | g.18603992T>A | CA515627455 | CDKL5 | c.1068T>A (p.Ala356=) c.1017T>A (p.Ala339=) c.936T>A (p.Ala312=) n.1320T>A | |
X | g.18603992T>C | CA515627457 | CDKL5 | c.1068T>C (p.Ala356=) c.1017T>C (p.Ala339=) c.936T>C (p.Ala312=) n.1320T>C | |
X | g.18603992T>G | CA515627459 | CDKL5 | c.1068T>G (p.Ala356=) c.1017T>G (p.Ala339=) c.936T>G (p.Ala312=) n.1320T>G | |
X | g.18603993G>A | CA412359233 | CDKL5 | c.1069G>A (p.Asp357Asn) c.1018G>A (p.Asp340Asn) c.937G>A (p.Asp313Asn) n.1321G>A | |
X | g.18603993G>C | CA412359235 | CDKL5 | c.1069G>C (p.Asp357His) c.1018G>C (p.Asp340His) c.937G>C (p.Asp313His) n.1321G>C | |
X | g.18603993G>T | CA412359238 | CDKL5 | c.1069G>T (p.Asp357Tyr) c.1018G>T (p.Asp340Tyr) c.937G>T (p.Asp313Tyr) n.1321G>T | |
X | g.18603994_18603999del | CA2693222666 | CDKL5 | c.1070_1075del (p.Asp357_Glu358del) c.1019_1024del (p.Asp340_Glu341del) c.938_943del (p.Asp313_Glu314del) n.1322_1327del | gnomAD v4 |
X | g.18603994A>C | CA412359241 | CDKL5 | c.1070A>C (p.Asp357Ala) c.1019A>C (p.Asp340Ala) c.938A>C (p.Asp313Ala) n.1322A>C | |
X | g.18603994A>G | CA412359244 | CDKL5 | c.1070A>G (p.Asp357Gly) c.1019A>G (p.Asp340Gly) c.938A>G (p.Asp313Gly) n.1322A>G | |
X | g.18603994A>T | CA412359246 | CDKL5 | c.1070A>T (p.Asp357Val) c.1019A>T (p.Asp340Val) c.938A>T (p.Asp313Val) n.1322A>T | |
X | g.18603994_18603995delinsAC | CA2417974375 | CDKL5 | c.1070_1071delinsAC (p.Asp357=) c.1019_1020delinsAC (p.Asp340=) c.938_939delinsAC (p.Asp313=) n.1322_1323delinsAC | |
X | g.18603995del | CA235607 | CDKL5 | c.1071del (p.Asp357GlufsTer11) c.1020del (p.Asp340GlufsTer11) c.939del (p.Asp313GlufsTer11) n.1323del | ClinVar dbSNP |
X | g.18603995C>A | CA412359251 | CDKL5 | c.1071C>A (p.Asp357Glu) c.1020C>A (p.Asp340Glu) c.939C>A (p.Asp313Glu) n.1323C>A | |
X | g.18603995C= | CA2417974376 | CDKL5 | c.1071C= (p.Asp357=) c.1020C= (p.Asp340=) c.939C= (p.Asp313=) n.1323C= | |
X | g.18603995C>G | CA412359254 | CDKL5 | c.1071C>G (p.Asp357Glu) c.1020C>G (p.Asp340Glu) c.939C>G (p.Asp313Glu) n.1323C>G | dbSNP |
X | g.18603995C>T | CA171604 | CDKL5 | c.1071C>T (p.Asp357=) c.1020C>T (p.Asp340=) c.939C>T (p.Asp313=) n.1323C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18603996G>A | CA10360345 | CDKL5 | c.1072G>A (p.Glu358Lys) c.1021G>A (p.Glu341Lys) c.940G>A (p.Glu314Lys) n.1324G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.18603996G>C | CA412359266 | CDKL5 | c.1072G>C (p.Glu358Gln) c.1021G>C (p.Glu341Gln) c.940G>C (p.Glu314Gln) n.1324G>C | |
X | g.18603996G= | CA2417974377 | CDKL5 | c.1072G= (p.Glu358=) c.1021G= (p.Glu341=) c.940G= (p.Glu314=) n.1324G= | |
X | g.18603996G>T | CA412359262 | CDKL5 | c.1072G>T (p.Glu358Ter) c.1021G>T (p.Glu341Ter) c.940G>T (p.Glu314Ter) n.1324G>T | |
X | g.18603997A= | CA2417974378 | CDKL5 | c.1073A= (p.Glu358=) c.1022A= (p.Glu341=) c.941A= (p.Glu314=) n.1325A= | |
X | g.18603997A>C | CA412359274 | CDKL5 | c.1073A>C (p.Glu358Ala) c.1022A>C (p.Glu341Ala) c.941A>C (p.Glu314Ala) n.1325A>C | |
X | g.18603997A>G | CA412359269 | CDKL5 | c.1073A>G (p.Glu358Gly) c.1022A>G (p.Glu341Gly) c.941A>G (p.Glu314Gly) n.1325A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18603997A>T | CA412359272 | CDKL5 | c.1073A>T (p.Glu358Val) c.1022A>T (p.Glu341Val) c.941A>T (p.Glu314Val) n.1325A>T | |
X | g.18603998A>C | CA412359277 | CDKL5 | c.1074A>C (p.Glu358Asp) c.1023A>C (p.Glu341Asp) c.942A>C (p.Glu314Asp) n.1326A>C | |
X | g.18603998A>G | CA515627464 | CDKL5 | c.1074A>G (p.Glu358=) c.1023A>G (p.Glu341=) c.942A>G (p.Glu314=) n.1326A>G | |
X | g.18603998A>T | CA412359279 | CDKL5 | c.1074A>T (p.Glu358Asp) c.1023A>T (p.Glu341Asp) c.942A>T (p.Glu314Asp) n.1326A>T | |
X | g.18603999G>A | CA412359282 | CDKL5 | c.1075G>A (p.Gly359Ser) c.1024G>A (p.Gly342Ser) c.943G>A (p.Gly315Ser) n.1327G>A | |
X | g.18603999G>C | CA412359285 | CDKL5 | c.1075G>C (p.Gly359Arg) c.1024G>C (p.Gly342Arg) c.943G>C (p.Gly315Arg) n.1327G>C | |
X | g.18603999G>T | CA412359288 | CDKL5 | c.1075G>T (p.Gly359Cys) c.1024G>T (p.Gly342Cys) c.943G>T (p.Gly315Cys) n.1327G>T | |
X | g.18604000G>A | CA412359292 | CDKL5 | c.1076G>A (p.Gly359Asp) c.1025G>A (p.Gly342Asp) c.944G>A (p.Gly315Asp) n.1328G>A | |
X | g.18604000G>C | CA412359299 | CDKL5 | c.1076G>C (p.Gly359Ala) c.1025G>C (p.Gly342Ala) c.944G>C (p.Gly315Ala) n.1328G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604000G= | CA2417974379 | CDKL5 | c.1076G= (p.Gly359=) c.1025G= (p.Gly342=) c.944G= (p.Gly315=) n.1328G= | |
X | g.18604000G>T | CA412359302 | CDKL5 | c.1076G>T (p.Gly359Val) c.1025G>T (p.Gly342Val) c.944G>T (p.Gly315Val) n.1328G>T | dbSNP gnomAD v4 |
X | g.18604001T>A | CA515627467 | CDKL5 | c.1077T>A (p.Gly359=) c.1026T>A (p.Gly342=) c.945T>A (p.Gly315=) n.1329T>A | |
X | g.18604001T>C | CA515627470 | CDKL5 | c.1077T>C (p.Gly359=) c.1026T>C (p.Gly342=) c.945T>C (p.Gly315=) n.1329T>C | gnomAD v4 |
X | g.18604001T>G | CA515627468 | CDKL5 | c.1077T>G (p.Gly359=) c.1026T>G (p.Gly342=) c.945T>G (p.Gly315=) n.1329T>G | |
X | g.18604002C>A | CA412359305 | CDKL5 | c.1078C>A (p.Leu360Ile) c.1027C>A (p.Leu343Ile) c.946C>A (p.Leu316Ile) n.1330C>A | |
X | g.18604002C>G | CA412359307 | CDKL5 | c.1078C>G (p.Leu360Val) c.1027C>G (p.Leu343Val) c.946C>G (p.Leu316Val) n.1330C>G | |
X | g.18604002C>T | CA412359311 | CDKL5 | c.1078C>T (p.Leu360Phe) c.1027C>T (p.Leu343Phe) c.946C>T (p.Leu316Phe) n.1330C>T | |
X | g.18604002_18604003delinsCT | CA2417974380 | CDKL5 | c.1078_1079delinsCT (p.Leu360=) c.1027_1028delinsCT (p.Leu343=) c.946_947delinsCT (p.Leu316=) n.1330_1331delinsCT | |
X | g.18604003del | CA170436 | CDKL5 | c.1079del (p.Leu360ProfsTer8) c.1028del (p.Leu343ProfsTer8) c.947del (p.Leu316ProfsTer8) n.1331del | ClinVar dbSNP |
X | g.18604003T>A | CA412359322 | CDKL5 | c.1079T>A (p.Leu360His) c.1028T>A (p.Leu343His) c.947T>A (p.Leu316His) n.1331T>A | |
X | g.18604003T>C | CA10360346 | CDKL5 | c.1079T>C (p.Leu360Pro) c.1028T>C (p.Leu343Pro) c.947T>C (p.Leu316Pro) n.1331T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604003T>G | CA412359318 | CDKL5 | c.1079T>G (p.Leu360Arg) c.1028T>G (p.Leu343Arg) c.947T>G (p.Leu316Arg) n.1331T>G | gnomAD v4 |
X | g.18604003T= | CA2417974381 | CDKL5 | c.1079T= (p.Leu360=) c.1028T= (p.Leu343=) c.947T= (p.Leu316=) n.1331T= | |
X | g.18604004C>A | CA515627473 | CDKL5 | c.1080C>A (p.Leu360=) c.1029C>A (p.Leu343=) c.948C>A (p.Leu316=) n.1332C>A | |
X | g.18604004C= | CA2417974382 | CDKL5 | c.1080C= (p.Leu360=) c.1029C= (p.Leu343=) c.948C= (p.Leu316=) n.1332C= | |
X | g.18604004C>G | CA515627475 | CDKL5 | c.1080C>G (p.Leu360=) c.1029C>G (p.Leu343=) c.948C>G (p.Leu316=) n.1332C>G | |
X | g.18604004C>T | CA326987709 | CDKL5 | c.1080C>T (p.Leu360=) c.1029C>T (p.Leu343=) c.948C>T (p.Leu316=) n.1332C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604006dup | CA170437 | CDKL5 | c.1082dup (p.Ala362CysfsTer3) c.1031dup (p.Ala345CysfsTer3) c.950dup (p.Ala318CysfsTer3) n.1334dup | ClinVar dbSNP |
X | g.18604006del | CA2697552874 | CDKL5 | c.1082del (p.Pro361LeufsTer7) c.1031del (p.Pro344LeufsTer7) c.950del (p.Pro317LeufsTer7) n.1334del | ClinVar |
X | g.18604005C>A | CA412359325 | CDKL5 | c.1081C>A (p.Pro361Thr) c.1030C>A (p.Pro344Thr) c.949C>A (p.Pro317Thr) n.1333C>A | |
X | g.18604005C>G | CA412359327 | CDKL5 | c.1081C>G (p.Pro361Ala) c.1030C>G (p.Pro344Ala) c.949C>G (p.Pro317Ala) n.1333C>G | |
X | g.18604005C>T | CA412359329 | CDKL5 | c.1081C>T (p.Pro361Ser) c.1030C>T (p.Pro344Ser) c.949C>T (p.Pro317Ser) n.1333C>T | |
X | g.18604006C>A | CA412359332 | CDKL5 | c.1082C>A (p.Pro361His) c.1031C>A (p.Pro344His) c.950C>A (p.Pro317His) n.1334C>A | |
X | g.18604006C>G | CA412359334 | CDKL5 | c.1082C>G (p.Pro361Arg) c.1031C>G (p.Pro344Arg) c.950C>G (p.Pro317Arg) n.1334C>G | gnomAD v4 |
X | g.18604006C>T | CA412359336 | CDKL5 | c.1082C>T (p.Pro361Leu) c.1031C>T (p.Pro344Leu) c.950C>T (p.Pro317Leu) n.1334C>T | |
X | g.18604007T>A | CA515627477 | CDKL5 | c.1083T>A (p.Pro361=) c.1032T>A (p.Pro344=) c.951T>A (p.Pro317=) n.1335T>A | |
X | g.18604007T>C | CA515627478 | CDKL5 | c.1083T>C (p.Pro361=) c.1032T>C (p.Pro344=) c.951T>C (p.Pro317=) n.1335T>C | ClinVar |
X | g.18604007T>G | CA515627480 | CDKL5 | c.1083T>G (p.Pro361=) c.1032T>G (p.Pro344=) c.951T>G (p.Pro317=) n.1335T>G | |
X | g.18604007_18604008insATCATTAAAAAA | CA2693222667 | CDKL5 | c.1083_1084insATCATTAAAAAA (p.Pro361_Ala362insIleIleLysLys) c.1032_1033insATCATTAAAAAA (p.Pro344_Ala345insIleIleLysLys) c.951_952insATCATTAAAAAA (p.Pro317_Ala318insIleIleLysLys) n.1335_1336insATCATTAAAAAA | gnomAD v4 |
X | g.18604008G>A | CA412359339 | CDKL5 | c.1084G>A (p.Ala362Thr) c.1033G>A (p.Ala345Thr) c.952G>A (p.Ala318Thr) n.1336G>A | |
X | g.18604008G>C | CA412359344 | CDKL5 | c.1084G>C (p.Ala362Pro) c.1033G>C (p.Ala345Pro) c.952G>C (p.Ala318Pro) n.1336G>C | |
X | g.18604008G= | CA2417974383 | CDKL5 | c.1084G= (p.Ala362=) c.1033G= (p.Ala345=) c.952G= (p.Ala318=) n.1336G= | |
X | g.18604008G>T | CA412359346 | CDKL5 | c.1084G>T (p.Ala362Ser) c.1033G>T (p.Ala345Ser) c.952G>T (p.Ala318Ser) n.1336G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604009C>A | CA412359348 | CDKL5 | c.1085C>A (p.Ala362Asp) c.1034C>A (p.Ala345Asp) c.953C>A (p.Ala318Asp) n.1337C>A | |
X | g.18604009C>G | CA412359352 | CDKL5 | c.1085C>G (p.Ala362Gly) c.1034C>G (p.Ala345Gly) c.953C>G (p.Ala318Gly) n.1337C>G | |
X | g.18604009C>T | CA412359355 | CDKL5 | c.1085C>T (p.Ala362Val) c.1034C>T (p.Ala345Val) c.953C>T (p.Ala318Val) n.1337C>T | |
X | g.18604010C>A | CA515627484 | CDKL5 | c.1086C>A (p.Ala362=) c.1035C>A (p.Ala345=) c.954C>A (p.Ala318=) n.1338C>A | |
X | g.18604010C= | CA2417974384 | CDKL5 | c.1086C= (p.Ala362=) c.1035C= (p.Ala345=) c.954C= (p.Ala318=) n.1338C= | |
X | g.18604010C>G | CA515627482 | CDKL5 | c.1086C>G (p.Ala362=) c.1035C>G (p.Ala345=) c.954C>G (p.Ala318=) n.1338C>G | |
X | g.18604010C>T | CA10360347 | CDKL5 | c.1086C>T (p.Ala362=) c.1035C>T (p.Ala345=) c.954C>T (p.Ala318=) n.1338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604011A= | CA2417974385 | CDKL5 | c.1087A= (p.Asn363=) c.1036A= (p.Asn346=) c.955A= (p.Asn319=) n.1339A= | |
X | g.18604011A>C | CA412359366 | CDKL5 | c.1087A>C (p.Asn363His) c.1036A>C (p.Asn346His) c.955A>C (p.Asn319His) n.1339A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604011A>G | CA412359362 | CDKL5 | c.1087A>G (p.Asn363Asp) c.1036A>G (p.Asn346Asp) c.955A>G (p.Asn319Asp) n.1339A>G | |
X | g.18604011A>T | CA412359364 | CDKL5 | c.1087A>T (p.Asn363Tyr) c.1036A>T (p.Asn346Tyr) c.955A>T (p.Asn319Tyr) n.1339A>T | |
X | g.18604012A= | CA2417974386 | CDKL5 | c.1088A= (p.Asn363=) c.1037A= (p.Asn346=) c.956A= (p.Asn319=) n.1340A= | |
X | g.18604012A>C | CA412359368 | CDKL5 | c.1088A>C (p.Asn363Thr) c.1037A>C (p.Asn346Thr) c.956A>C (p.Asn319Thr) n.1340A>C | |
X | g.18604012A>G | CA10360348 | CDKL5 | c.1088A>G (p.Asn363Ser) c.1037A>G (p.Asn346Ser) c.956A>G (p.Asn319Ser) n.1340A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604012A>T | CA412359373 | CDKL5 | c.1088A>T (p.Asn363Ile) c.1037A>T (p.Asn346Ile) c.956A>T (p.Asn319Ile) n.1340A>T | |
X | g.18604013T>A | CA412359376 | CDKL5 | c.1089T>A (p.Asn363Lys) c.1038T>A (p.Asn346Lys) c.957T>A (p.Asn319Lys) n.1341T>A | |
X | g.18604013T>C | CA515627486 | CDKL5 | c.1089T>C (p.Asn363=) c.1038T>C (p.Asn346=) c.957T>C (p.Asn319=) n.1341T>C | |
X | g.18604013T>G | CA412359378 | CDKL5 | c.1089T>G (p.Asn363Lys) c.1038T>G (p.Asn346Lys) c.957T>G (p.Asn319Lys) n.1341T>G | |
X | g.18604014G>A | CA412359379 | CDKL5 | c.1090G>A (p.Glu364Lys) c.1039G>A (p.Glu347Lys) c.958G>A (p.Glu320Lys) n.1342G>A | |
X | g.18604014G>C | CA412359381 | CDKL5 | c.1090G>C (p.Glu364Gln) c.1039G>C (p.Glu347Gln) c.958G>C (p.Glu320Gln) n.1342G>C | |
X | g.18604014G= | CA2417974387 | CDKL5 | c.1090G= (p.Glu364=) c.1039G= (p.Glu347=) c.958G= (p.Glu320=) n.1342G= | |
X | g.18604014G>T | CA199374 | CDKL5 | c.1090G>T (p.Glu364Ter) c.1039G>T (p.Glu347Ter) c.958G>T (p.Glu320Ter) n.1342G>T | ClinVar dbSNP |
X | g.18604015A>C | CA412359386 | CDKL5 | c.1091A>C (p.Glu364Ala) c.1040A>C (p.Glu347Ala) c.959A>C (p.Glu320Ala) n.1343A>C | |
X | g.18604015A>G | CA412359388 | CDKL5 | c.1091A>G (p.Glu364Gly) c.1040A>G (p.Glu347Gly) c.959A>G (p.Glu320Gly) n.1343A>G | |
X | g.18604015A>T | CA412359391 | CDKL5 | c.1091A>T (p.Glu364Val) c.1040A>T (p.Glu347Val) c.959A>T (p.Glu320Val) n.1343A>T | |
X | g.18604018_18604027del | CA2695231301 | CDKL5 | c.1094_1103del (p.Ser365MetfsTer?) c.1043_1052del (p.Ser348MetfsTer?) c.962_971del (p.Ser321MetfsTer?) n.1346_1355del | |
X | g.18604016A>C | CA412359397 | CDKL5 | c.1092A>C (p.Glu364Asp) c.1041A>C (p.Glu347Asp) c.960A>C (p.Glu320Asp) n.1344A>C | |
X | g.18604016A>G | CA515627490 | CDKL5 | c.1092A>G (p.Glu364=) c.1041A>G (p.Glu347=) c.960A>G (p.Glu320=) n.1344A>G | |
X | g.18604016A>T | CA412359394 | CDKL5 | c.1092A>T (p.Glu364Asp) c.1041A>T (p.Glu347Asp) c.960A>T (p.Glu320Asp) n.1344A>T | |
X | g.18604017A= | CA2417974388 | CDKL5 | c.1093A= (p.Ser365=) c.1042A= (p.Ser348=) c.961A= (p.Ser321=) n.1345A= | |
X | g.18604017A>C | CA412359403 | CDKL5 | c.1093A>C (p.Ser365Arg) c.1042A>C (p.Ser348Arg) c.961A>C (p.Ser321Arg) n.1345A>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604017A>G | CA412359406 | CDKL5 | c.1093A>G (p.Ser365Gly) c.1042A>G (p.Ser348Gly) c.961A>G (p.Ser321Gly) n.1345A>G | |
X | g.18604017A>T | CA412359410 | CDKL5 | c.1093A>T (p.Ser365Cys) c.1042A>T (p.Ser348Cys) c.961A>T (p.Ser321Cys) n.1345A>T | dbSNP gnomAD v4 |
X | g.18604018G>A | CA412359413 | CDKL5 | c.1094G>A (p.Ser365Asn) c.1043G>A (p.Ser348Asn) c.962G>A (p.Ser321Asn) n.1346G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604018G>C | CA412359416 | CDKL5 | c.1094G>C (p.Ser365Thr) c.1043G>C (p.Ser348Thr) c.962G>C (p.Ser321Thr) n.1346G>C | ClinVar dbSNP |
X | g.18604018G= | CA2417974389 | CDKL5 | c.1094G= (p.Ser365=) c.1043G= (p.Ser348=) c.962G= (p.Ser321=) n.1346G= | |
X | g.18604018G>T | CA412359418 | CDKL5 | c.1094G>T (p.Ser365Ile) c.1043G>T (p.Ser348Ile) c.962G>T (p.Ser321Ile) n.1346G>T | |
X | g.18604018dup | CA1139667243 | CDKL5 | c.1094dup (p.Ser365ArgfsTer11) c.1043dup (p.Ser348ArgfsTer11) c.962dup (p.Ser321ArgfsTer11) n.1346dup | ClinVar dbSNP |
X | g.18604019C>A | CA412359421 | CDKL5 | c.1095C>A (p.Ser365Arg) c.1044C>A (p.Ser348Arg) c.963C>A (p.Ser321Arg) n.1347C>A | |
X | g.18604019C>G | CA412359424 | CDKL5 | c.1095C>G (p.Ser365Arg) c.1044C>G (p.Ser348Arg) c.963C>G (p.Ser321Arg) n.1347C>G | |
X | g.18604019C>T | CA515627492 | CDKL5 | c.1095C>T (p.Ser365=) c.1044C>T (p.Ser348=) c.963C>T (p.Ser321=) n.1347C>T | |
X | g.18604020T>A | CA412359427 | CDKL5 | c.1096T>A (p.Phe366Ile) c.1045T>A (p.Phe349Ile) c.964T>A (p.Phe322Ile) n.1348T>A | |
X | g.18604020T>C | CA412359429 | CDKL5 | c.1096T>C (p.Phe366Leu) c.1045T>C (p.Phe349Leu) c.964T>C (p.Phe322Leu) n.1348T>C | |
X | g.18604020T>G | CA412359432 | CDKL5 | c.1096T>G (p.Phe366Val) c.1045T>G (p.Phe349Val) c.964T>G (p.Phe322Val) n.1348T>G | |
X | g.18604021T>A | CA412359436 | CDKL5 | c.1097T>A (p.Phe366Tyr) c.1046T>A (p.Phe349Tyr) c.965T>A (p.Phe322Tyr) n.1349T>A | |
X | g.18604021T>C | CA412359438 | CDKL5 | c.1097T>C (p.Phe366Ser) c.1046T>C (p.Phe349Ser) c.965T>C (p.Phe322Ser) n.1349T>C | COSMIC |
X | g.18604021T>G | CA412359442 | CDKL5 | c.1097T>G (p.Phe366Cys) c.1046T>G (p.Phe349Cys) c.965T>G (p.Phe322Cys) n.1349T>G | |
X | g.18604022C>A | CA412359448 | CDKL5 | c.1098C>A (p.Phe366Leu) c.1047C>A (p.Phe349Leu) c.966C>A (p.Phe322Leu) n.1350C>A | COSMIC |
X | g.18604022C= | CA2417974390 | CDKL5 | c.1098C= (p.Phe366=) c.1047C= (p.Phe349=) c.966C= (p.Phe322=) n.1350C= | |
X | g.18604022C>G | CA412359451 | CDKL5 | c.1098C>G (p.Phe366Leu) c.1047C>G (p.Phe349Leu) c.966C>G (p.Phe322Leu) n.1350C>G | |
X | g.18604022C>T | CA10360349 | CDKL5 | c.1098C>T (p.Phe366=) c.1047C>T (p.Phe349=) c.966C>T (p.Phe322=) n.1350C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604023C>A | CA412359454 | CDKL5 | c.1099C>A (p.Leu367Ile) c.1048C>A (p.Leu350Ile) c.967C>A (p.Leu323Ile) n.1351C>A | |
X | g.18604023C= | CA2417974391 | CDKL5 | c.1099C= (p.Leu367=) c.1048C= (p.Leu350=) c.967C= (p.Leu323=) n.1351C= | |
X | g.18604023C>G | CA412359457 | CDKL5 | c.1099C>G (p.Leu367Val) c.1048C>G (p.Leu350Val) c.967C>G (p.Leu323Val) n.1351C>G | |
X | g.18604023C>T | CA515627496 | CDKL5 | c.1099C>T (p.Leu367=) c.1048C>T (p.Leu350=) c.967C>T (p.Leu323=) n.1351C>T | ClinVar |
X | g.18604024T>A | CA412359460 | CDKL5 | c.1100T>A (p.Leu367Gln) c.1049T>A (p.Leu350Gln) c.968T>A (p.Leu323Gln) n.1352T>A | |
X | g.18604024T>C | CA412359465 | CDKL5 | c.1100T>C (p.Leu367Pro) c.1049T>C (p.Leu350Pro) c.968T>C (p.Leu323Pro) n.1352T>C | |
X | g.18604024T>G | CA412359463 | CDKL5 | c.1100T>G (p.Leu367Arg) c.1049T>G (p.Leu350Arg) c.968T>G (p.Leu323Arg) n.1352T>G | |
X | g.18604024T= | CA2417974392 | CDKL5 | c.1100T= (p.Leu367=) c.1049T= (p.Leu350=) c.968T= (p.Leu323=) n.1352T= | |
X | g.18604024dup | CA645620497 | CDKL5 | c.1100dup (p.Asn368LysfsTer8) c.1049dup (p.Asn351LysfsTer8) c.968dup (p.Asn324LysfsTer8) n.1352dup | COSMIC |
X | g.18604025A= | CA2417974393 | CDKL5 | c.1101A= (p.Leu367=) c.1050A= (p.Leu350=) c.969A= (p.Leu323=) n.1353A= | |
X | g.18604025A>C | CA515627498 | CDKL5 | c.1101A>C (p.Leu367=) c.1050A>C (p.Leu350=) c.969A>C (p.Leu323=) n.1353A>C | |
X | g.18604025A>G | CA10360350 | CDKL5 | c.1101A>G (p.Leu367=) c.1050A>G (p.Leu350=) c.969A>G (p.Leu323=) n.1353A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604025A>T | CA515627499 | CDKL5 | c.1101A>T (p.Leu367=) c.1050A>T (p.Leu350=) c.969A>T (p.Leu323=) n.1353A>T | |
X | g.18604027dup | CA1139667244 | CDKL5 | c.1103dup (p.Asn368LysfsTer8) c.1052dup (p.Asn351LysfsTer8) c.971dup (p.Asn324LysfsTer8) n.1355dup | ClinVar dbSNP |
X | g.18604027del | CA2819902038 | CDKL5 | c.1103del (p.Asn368MetfsTer?) c.1052del (p.Asn351MetfsTer?) c.971del (p.Asn324MetfsTer?) n.1355del | |
X | g.18604026A= | CA2417974394 | CDKL5 | c.1102A= (p.Asn368=) c.1051A= (p.Asn351=) c.970A= (p.Asn324=) n.1354A= | |
X | g.18604026A>C | CA412359476 | CDKL5 | c.1102A>C (p.Asn368His) c.1051A>C (p.Asn351His) c.970A>C (p.Asn324His) n.1354A>C | COSMIC |
X | g.18604026A>G | CA10360351 | CDKL5 | c.1102A>G (p.Asn368Asp) c.1051A>G (p.Asn351Asp) c.970A>G (p.Asn324Asp) n.1354A>G | ClinVar dbSNP ExAC gnomAD v2 |
X | g.18604026A>T | CA412359473 | CDKL5 | c.1102A>T (p.Asn368Tyr) c.1051A>T (p.Asn351Tyr) c.970A>T (p.Asn324Tyr) n.1354A>T | |
X | g.18604027A>C | CA412359479 | CDKL5 | c.1103A>C (p.Asn368Thr) c.1052A>C (p.Asn351Thr) c.971A>C (p.Asn324Thr) n.1355A>C | |
X | g.18604027A>G | CA412359481 | CDKL5 | c.1103A>G (p.Asn368Ser) c.1052A>G (p.Asn351Ser) c.971A>G (p.Asn324Ser) n.1355A>G | gnomAD v4 |
X | g.18604027A>T | CA412359486 | CDKL5 | c.1103A>T (p.Asn368Ile) c.1052A>T (p.Asn351Ile) c.971A>T (p.Asn324Ile) n.1355A>T | |
X | g.18604028T>A | CA412359488 | CDKL5 | c.1104T>A (p.Asn368Lys) c.1053T>A (p.Asn351Lys) c.972T>A (p.Asn324Lys) n.1356T>A | |
X | g.18604028T>C | CA515627502 | CDKL5 | c.1104T>C (p.Asn368=) c.1053T>C (p.Asn351=) c.972T>C (p.Asn324=) n.1356T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604028T>G | CA412359490 | CDKL5 | c.1104T>G (p.Asn368Lys) c.1053T>G (p.Asn351Lys) c.972T>G (p.Asn324Lys) n.1356T>G | |
X | g.18604028T= | CA2417974395 | CDKL5 | c.1104T= (p.Asn368=) c.1053T= (p.Asn351=) c.972T= (p.Asn324=) n.1356T= | |
X | g.18604029G>A | CA412359497 | CDKL5 | c.1105G>A (p.Gly369Arg) c.1054G>A (p.Gly352Arg) c.973G>A (p.Gly325Arg) n.1357G>A | |
X | g.18604029G>C | CA412359498 | CDKL5 | c.1105G>C (p.Gly369Arg) c.1054G>C (p.Gly352Arg) c.973G>C (p.Gly325Arg) n.1357G>C | |
X | g.18604029G>T | CA412359499 | CDKL5 | c.1105G>T (p.Gly369Ter) c.1054G>T (p.Gly352Ter) c.973G>T (p.Gly325Ter) n.1357G>T | COSMIC |
X | g.18604029_18604043delinsGGAAACCTTGCTGGA | CA2417974396 | CDKL5 | c.1105_1119delinsGGAAACCTTGCTGGA (p.Gly369=) c.1054_1068delinsGGAAACCTTGCTGGA (p.Gly352=) c.973_987delinsGGAAACCTTGCTGGA (p.Gly325=) n.1357_1371delinsGGAAACCTTGCTGGA | |
X | g.18604030G>A | CA412359500 | CDKL5 | c.1106G>A (p.Gly369Glu) c.1055G>A (p.Gly352Glu) c.974G>A (p.Gly325Glu) n.1358G>A | ClinVar dbSNP |
X | g.18604030G>C | CA412359502 | CDKL5 | c.1106G>C (p.Gly369Ala) c.1055G>C (p.Gly352Ala) c.974G>C (p.Gly325Ala) n.1358G>C | |
X | g.18604030G= | CA2417974397 | CDKL5 | c.1106G= (p.Gly369=) c.1055G= (p.Gly352=) c.974G= (p.Gly325=) n.1358G= | |
X | g.18604030G>T | CA412359504 | CDKL5 | c.1106G>T (p.Gly369Val) c.1055G>T (p.Gly352Val) c.974G>T (p.Gly325Val) n.1358G>T | |
X | g.18604031_18604044del | CA658799607 | CDKL5 | c.1107_1120del (p.Asn370Ter) c.1056_1069del (p.Asn353Ter) c.975_988del (p.Asn326Ter) n.1359_1372del | ClinVar dbSNP |
X | g.18604031A>C | CA515627505 | CDKL5 | c.1107A>C (p.Gly369=) c.1056A>C (p.Gly352=) c.975A>C (p.Gly325=) n.1359A>C | |
X | g.18604031A>G | CA515627504 | CDKL5 | c.1107A>G (p.Gly369=) c.1056A>G (p.Gly352=) c.975A>G (p.Gly325=) n.1359A>G | |
X | g.18604031A>T | CA515627503 | CDKL5 | c.1107A>T (p.Gly369=) c.1056A>T (p.Gly352=) c.975A>T (p.Gly325=) n.1359A>T | |
X | g.18604032_18604033dup | CA10605888 | CDKL5 | c.1108_1109dup (p.Asn370LysfsTer?) c.1057_1058dup (p.Asn353LysfsTer?) c.976_977dup (p.Asn326LysfsTer?) n.1360_1361dup | ClinVar dbSNP |
X | g.18604032A>C | CA412359511 | CDKL5 | c.1108A>C (p.Asn370His) c.1057A>C (p.Asn353His) c.976A>C (p.Asn326His) n.1360A>C | |
X | g.18604032A>G | CA412359508 | CDKL5 | c.1108A>G (p.Asn370Asp) c.1057A>G (p.Asn353Asp) c.976A>G (p.Asn326Asp) n.1360A>G | |
X | g.18604032A>T | CA412359510 | CDKL5 | c.1108A>T (p.Asn370Tyr) c.1057A>T (p.Asn353Tyr) c.976A>T (p.Asn326Tyr) n.1360A>T | |
X | g.18604033A= | CA2417974398 | CDKL5 | c.1109A= (p.Asn370=) c.1058A= (p.Asn353=) c.977A= (p.Asn326=) n.1361A= | |
X | g.18604033A>C | CA412359512 | CDKL5 | c.1109A>C (p.Asn370Thr) c.1058A>C (p.Asn353Thr) c.977A>C (p.Asn326Thr) n.1361A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604033A>G | CA412359514 | CDKL5 | c.1109A>G (p.Asn370Ser) c.1058A>G (p.Asn353Ser) c.977A>G (p.Asn326Ser) n.1361A>G | ClinVar |
X | g.18604033A>T | CA412359515 | CDKL5 | c.1109A>T (p.Asn370Ile) c.1058A>T (p.Asn353Ile) c.977A>T (p.Asn326Ile) n.1361A>T | |
X | g.18604033_18604034delinsAC | CA2417974399 | CDKL5 | c.1109_1110delinsAC (p.Asn370=) c.1058_1059delinsAC (p.Asn353=) c.977_978delinsAC (p.Asn326=) n.1361_1362delinsAC | |
X | g.18604034C>A | CA412359516 | CDKL5 | c.1110C>A (p.Asn370Lys) c.1059C>A (p.Asn353Lys) c.978C>A (p.Asn326Lys) n.1362C>A | |
X | g.18604034C>G | CA412359518 | CDKL5 | c.1110C>G (p.Asn370Lys) c.1059C>G (p.Asn353Lys) c.978C>G (p.Asn326Lys) n.1362C>G | |
X | g.18604034C>T | CA515627507 | CDKL5 | c.1110C>T (p.Asn370=) c.1059C>T (p.Asn353=) c.978C>T (p.Asn326=) n.1362C>T | |
X | g.18604035del | CA658799608 | CDKL5 | c.1111del (p.Ala372LeufsTer?) c.1060del (p.Ala355LeufsTer?) c.979del (p.Ala328LeufsTer?) n.1363del | ClinVar dbSNP |
X | g.18604035C>A | CA412359519 | CDKL5 | c.1111C>A (p.Leu371Ile) c.1060C>A (p.Leu354Ile) c.979C>A (p.Leu327Ile) n.1363C>A | |
X | g.18604035C= | CA2417974400 | CDKL5 | c.1111C= (p.Leu371=) c.1060C= (p.Leu354=) c.979C= (p.Leu327=) n.1363C= | |
X | g.18604035C>G | CA412359520 | CDKL5 | c.1111C>G (p.Leu371Val) c.1060C>G (p.Leu354Val) c.979C>G (p.Leu327Val) n.1363C>G | |
X | g.18604035C>T | CA10360352 | CDKL5 | c.1111C>T (p.Leu371Phe) c.1060C>T (p.Leu354Phe) c.979C>T (p.Leu327Phe) n.1363C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604036T>A | CA412359524 | CDKL5 | c.1112T>A (p.Leu371His) c.1061T>A (p.Leu354His) c.980T>A (p.Leu327His) n.1364T>A | |
X | g.18604036T>C | CA412359525 | CDKL5 | c.1112T>C (p.Leu371Pro) c.1061T>C (p.Leu354Pro) c.980T>C (p.Leu327Pro) n.1364T>C | |
X | g.18604036T>G | CA412359527 | CDKL5 | c.1112T>G (p.Leu371Arg) c.1061T>G (p.Leu354Arg) c.980T>G (p.Leu327Arg) n.1364T>G | |
X | g.18604037T>A | CA515627511 | CDKL5 | c.1113T>A (p.Leu371=) c.1062T>A (p.Leu354=) c.981T>A (p.Leu327=) n.1365T>A | |
X | g.18604037T>C | CA515627512 | CDKL5 | c.1113T>C (p.Leu371=) c.1062T>C (p.Leu354=) c.981T>C (p.Leu327=) n.1365T>C | |
X | g.18604037T>G | CA515627513 | CDKL5 | c.1113T>G (p.Leu371=) c.1062T>G (p.Leu354=) c.981T>G (p.Leu327=) n.1365T>G | |
X | g.18604038G>A | CA412359531 | CDKL5 | c.1114G>A (p.Ala372Thr) c.1063G>A (p.Ala355Thr) c.982G>A (p.Ala328Thr) n.1366G>A | |
X | g.18604038G>C | CA412359535 | CDKL5 | c.1114G>C (p.Ala372Pro) c.1063G>C (p.Ala355Pro) c.982G>C (p.Ala328Pro) n.1366G>C | |
X | g.18604038G>T | CA412359533 | CDKL5 | c.1114G>T (p.Ala372Ser) c.1063G>T (p.Ala355Ser) c.982G>T (p.Ala328Ser) n.1366G>T | |
X | g.18604039C>A | CA412359538 | CDKL5 | c.1115C>A (p.Ala372Asp) c.1064C>A (p.Ala355Asp) c.983C>A (p.Ala328Asp) n.1367C>A | |
X | g.18604039C>G | CA412359539 | CDKL5 | c.1115C>G (p.Ala372Gly) c.1064C>G (p.Ala355Gly) c.983C>G (p.Ala328Gly) n.1367C>G | |
X | g.18604039C>T | CA412359540 | CDKL5 | c.1115C>T (p.Ala372Val) c.1064C>T (p.Ala355Val) c.983C>T (p.Ala328Val) n.1367C>T | |
X | g.18604040T>A | CA10360354 | CDKL5 | c.1116T>A (p.Ala372=) c.1065T>A (p.Ala355=) c.984T>A (p.Ala328=) n.1368T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604040T>C | CA515627515 | CDKL5 | c.1116T>C (p.Ala372=) c.1065T>C (p.Ala355=) c.984T>C (p.Ala328=) n.1368T>C | dbSNP gnomAD v4 |
X | g.18604040T>G | CA10360353 | CDKL5 | c.1116T>G (p.Ala372=) c.1065T>G (p.Ala355=) c.984T>G (p.Ala328=) n.1368T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604040T= | CA2417974401 | CDKL5 | c.1116T= (p.Ala372=) c.1065T= (p.Ala355=) c.984T= (p.Ala328=) n.1368T= | |
X | g.18604041G>A | CA412359542 | CDKL5 | c.1117G>A (p.Gly373Arg) c.1066G>A (p.Gly356Arg) c.985G>A (p.Gly329Arg) n.1369G>A | gnomAD v4 |
X | g.18604041G>C | CA412359545 | CDKL5 | c.1117G>C (p.Gly373Arg) c.1066G>C (p.Gly356Arg) c.985G>C (p.Gly329Arg) n.1369G>C | |
X | g.18604041G>T | CA412359547 | CDKL5 | c.1117G>T (p.Gly373Ter) c.1066G>T (p.Gly356Ter) c.985G>T (p.Gly329Ter) n.1369G>T | |
X | g.18604042G>A | CA412359550 | CDKL5 | c.1118G>A (p.Gly373Glu) c.1067G>A (p.Gly356Glu) c.986G>A (p.Gly329Glu) n.1370G>A | |
X | g.18604042G>C | CA412359551 | CDKL5 | c.1118G>C (p.Gly373Ala) c.1067G>C (p.Gly356Ala) c.986G>C (p.Gly329Ala) n.1370G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604042G= | CA2417974402 | CDKL5 | c.1118G= (p.Gly373=) c.1067G= (p.Gly356=) c.986G= (p.Gly329=) n.1370G= | |
X | g.18604042G>T | CA412359552 | CDKL5 | c.1118G>T (p.Gly373Val) c.1067G>T (p.Gly356Val) c.986G>T (p.Gly329Val) n.1370G>T | |
X | g.18604043A>C | CA515627519 | CDKL5 | c.1119A>C (p.Gly373=) c.1068A>C (p.Gly356=) c.987A>C (p.Gly329=) n.1371A>C | |
X | g.18604043A>G | CA515627520 | CDKL5 | c.1119A>G (p.Gly373=) c.1068A>G (p.Gly356=) c.987A>G (p.Gly329=) n.1371A>G | |
X | g.18604043A>T | CA515627521 | CDKL5 | c.1119A>T (p.Gly373=) c.1068A>T (p.Gly356=) c.987A>T (p.Gly329=) n.1371A>T | |
X | g.18604044G>A | CA412359555 | CDKL5 | c.1120G>A (p.Ala374Thr) c.1069G>A (p.Ala357Thr) c.988G>A (p.Ala330Thr) n.1372G>A | gnomAD v4 COSMIC |
X | g.18604044G>C | CA412359554 | CDKL5 | c.1120G>C (p.Ala374Pro) c.1069G>C (p.Ala357Pro) c.988G>C (p.Ala330Pro) n.1372G>C | |
X | g.18604044G>T | CA412359553 | CDKL5 | c.1120G>T (p.Ala374Ser) c.1069G>T (p.Ala357Ser) c.988G>T (p.Ala330Ser) n.1372G>T | COSMIC |
X | g.18604045C>A | CA412359557 | CDKL5 | c.1121C>A (p.Ala374Asp) c.1070C>A (p.Ala357Asp) c.989C>A (p.Ala330Asp) n.1373C>A | |
X | g.18604045C>G | CA412359559 | CDKL5 | c.1121C>G (p.Ala374Gly) c.1070C>G (p.Ala357Gly) c.989C>G (p.Ala330Gly) n.1373C>G | |
X | g.18604045C>T | CA412359560 | CDKL5 | c.1121C>T (p.Ala374Val) c.1070C>T (p.Ala357Val) c.989C>T (p.Ala330Val) n.1373C>T | |
X | g.18604046T>A | CA10360355 | CDKL5 | c.1122T>A (p.Ala374=) c.1071T>A (p.Ala357=) c.990T>A (p.Ala330=) n.1374T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604046T>C | CA515627523 | CDKL5 | c.1122T>C (p.Ala374=) c.1071T>C (p.Ala357=) c.990T>C (p.Ala330=) n.1374T>C | |
X | g.18604046T>G | CA515627524 | CDKL5 | c.1122T>G (p.Ala374=) c.1071T>G (p.Ala357=) c.990T>G (p.Ala330=) n.1374T>G | |
X | g.18604046T= | CA2417974403 | CDKL5 | c.1122T= (p.Ala374=) c.1071T= (p.Ala357=) c.990T= (p.Ala330=) n.1374T= | |
X | g.18604047A= | CA2417974404 | CDKL5 | c.1123A= (p.Ser375=) c.1072A= (p.Ser358=) c.991A= (p.Ser331=) n.1375A= | |
X | g.18604047A>C | CA412359563 | CDKL5 | c.1123A>C (p.Ser375Arg) c.1072A>C (p.Ser358Arg) c.991A>C (p.Ser331Arg) n.1375A>C | |
X | g.18604047A>G | CA412359565 | CDKL5 | c.1123A>G (p.Ser375Gly) c.1072A>G (p.Ser358Gly) c.991A>G (p.Ser331Gly) n.1375A>G | dbSNP gnomAD v4 |
X | g.18604047A>T | CA412359567 | CDKL5 | c.1123A>T (p.Ser375Cys) c.1072A>T (p.Ser358Cys) c.991A>T (p.Ser331Cys) n.1375A>T | |
X | g.18604048G>A | CA412359568 | CDKL5 | c.1124G>A (p.Ser375Asn) c.1073G>A (p.Ser358Asn) c.992G>A (p.Ser331Asn) n.1376G>A | |
X | g.18604048G>C | CA412359569 | CDKL5 | c.1124G>C (p.Ser375Thr) c.1073G>C (p.Ser358Thr) c.992G>C (p.Ser331Thr) n.1376G>C | |
X | g.18604048G>T | CA412359572 | CDKL5 | c.1124G>T (p.Ser375Ile) c.1073G>T (p.Ser358Ile) c.992G>T (p.Ser331Ile) n.1376G>T | |
X | g.18604049T>A | CA412359574 | CDKL5 | c.1125T>A (p.Ser375Arg) c.1074T>A (p.Ser358Arg) c.993T>A (p.Ser331Arg) n.1377T>A | |
X | g.18604049T>C | CA515627526 | CDKL5 | c.1125T>C (p.Ser375=) c.1074T>C (p.Ser358=) c.993T>C (p.Ser331=) n.1377T>C | |
X | g.18604049T>G | CA412359575 | CDKL5 | c.1125T>G (p.Ser375Arg) c.1074T>G (p.Ser358Arg) c.993T>G (p.Ser331Arg) n.1377T>G | |
X | g.18604050C>A | CA412359579 | CDKL5 | c.1126C>A (p.Leu376Ile) c.1075C>A (p.Leu359Ile) c.994C>A (p.Leu332Ile) n.1378C>A | |
X | g.18604050C>G | CA412359581 | CDKL5 | c.1126C>G (p.Leu376Val) c.1075C>G (p.Leu359Val) c.994C>G (p.Leu332Val) n.1378C>G | |
X | g.18604050C>T | CA412359577 | CDKL5 | c.1126C>T (p.Leu376Phe) c.1075C>T (p.Leu359Phe) c.994C>T (p.Leu332Phe) n.1378C>T | |
X | g.18604051T>A | CA412359585 | CDKL5 | c.1127T>A (p.Leu376His) c.1076T>A (p.Leu359His) c.995T>A (p.Leu332His) n.1379T>A | |
X | g.18604051T>C | CA412359583 | CDKL5 | c.1127T>C (p.Leu376Pro) c.1076T>C (p.Leu359Pro) c.995T>C (p.Leu332Pro) n.1379T>C | |
X | g.18604051T>G | CA412359584 | CDKL5 | c.1127T>G (p.Leu376Arg) c.1076T>G (p.Leu359Arg) c.995T>G (p.Leu332Arg) n.1379T>G | |
X | g.18604052T>A | CA515627532 | CDKL5 | c.1128T>A (p.Leu376=) c.1077T>A (p.Leu359=) c.996T>A (p.Leu332=) n.1380T>A | |
X | g.18604052T>C | CA515627531 | CDKL5 | c.1128T>C (p.Leu376=) c.1077T>C (p.Leu359=) c.996T>C (p.Leu332=) n.1380T>C | |
X | g.18604052T>G | CA515627530 | CDKL5 | c.1128T>G (p.Leu376=) c.1077T>G (p.Leu359=) c.996T>G (p.Leu332=) n.1380T>G | |
X | g.18604053A>C | CA412359588 | CDKL5 | c.1129A>C (p.Ser377Arg) c.1078A>C (p.Ser360Arg) c.997A>C (p.Ser333Arg) n.1381A>C | |
X | g.18604053A>G | CA412359590 | CDKL5 | c.1129A>G (p.Ser377Gly) c.1078A>G (p.Ser360Gly) c.997A>G (p.Ser333Gly) n.1381A>G | |
X | g.18604053A>T | CA412359592 | CDKL5 | c.1129A>T (p.Ser377Cys) c.1078A>T (p.Ser360Cys) c.997A>T (p.Ser333Cys) n.1381A>T | |
X | g.18604054G>A | CA412359594 | CDKL5 | c.1130G>A (p.Ser377Asn) c.1079G>A (p.Ser360Asn) c.998G>A (p.Ser333Asn) n.1382G>A | |
X | g.18604054G>C | CA412359596 | CDKL5 | c.1130G>C (p.Ser377Thr) c.1079G>C (p.Ser360Thr) c.998G>C (p.Ser333Thr) n.1382G>C | |
X | g.18604054G>T | CA412359597 | CDKL5 | c.1130G>T (p.Ser377Ile) c.1079G>T (p.Ser360Ile) c.998G>T (p.Ser333Ile) n.1382G>T | |
X | g.18604055T>A | CA412359599 | CDKL5 | c.1131T>A (p.Ser377Arg) c.1080T>A (p.Ser360Arg) c.999T>A (p.Ser333Arg) n.1383T>A | |
X | g.18604055T>C | CA515627535 | CDKL5 | c.1131T>C (p.Ser377=) c.1080T>C (p.Ser360=) c.999T>C (p.Ser333=) n.1383T>C | |
X | g.18604055T>G | CA412359601 | CDKL5 | c.1131T>G (p.Ser377Arg) c.1080T>G (p.Ser360Arg) c.999T>G (p.Ser333Arg) n.1383T>G | |
X | g.18604056C>A | CA412359603 | CDKL5 | c.1132C>A (p.Pro378Thr) c.1081C>A (p.Pro361Thr) c.1000C>A (p.Pro334Thr) n.1384C>A | |
X | g.18604056C>G | CA412359605 | CDKL5 | c.1132C>G (p.Pro378Ala) c.1081C>G (p.Pro361Ala) c.1000C>G (p.Pro334Ala) n.1384C>G | |
X | g.18604056C>T | CA412359606 | CDKL5 | c.1132C>T (p.Pro378Ser) c.1081C>T (p.Pro361Ser) c.1000C>T (p.Pro334Ser) n.1384C>T | |
X | g.18604057C>A | CA412359613 | CDKL5 | c.1133C>A (p.Pro378Gln) c.1082C>A (p.Pro361Gln) c.1001C>A (p.Pro334Gln) n.1385C>A | |
X | g.18604057C= | CA2417973817 | CDKL5 | c.1133C= (p.Pro378=) c.1082C= (p.Pro361=) c.1001C= (p.Pro334=) n.1385C= | |
X | g.18604057C>G | CA412359609 | CDKL5 | c.1133C>G (p.Pro378Arg) c.1082C>G (p.Pro361Arg) c.1001C>G (p.Pro334Arg) n.1385C>G | |
X | g.18604057C>T | CA412359611 | CDKL5 | c.1133C>T (p.Pro378Leu) c.1082C>T (p.Pro361Leu) c.1001C>T (p.Pro334Leu) n.1385C>T | dbSNP |
X | g.18604058A= | CA2417973818 | CDKL5 | c.1134A= (p.Pro378=) c.1083A= (p.Pro361=) c.1002A= (p.Pro334=) n.1386A= | |
X | g.18604058A>C | CA515627537 | CDKL5 | c.1134A>C (p.Pro378=) c.1083A>C (p.Pro361=) c.1002A>C (p.Pro334=) n.1386A>C | |
X | g.18604058A>G | CA10360356 | CDKL5 | c.1134A>G (p.Pro378=) c.1083A>G (p.Pro361=) c.1002A>G (p.Pro334=) n.1386A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604058A>T | CA515627538 | CDKL5 | c.1134A>T (p.Pro378=) c.1083A>T (p.Pro361=) c.1002A>T (p.Pro334=) n.1386A>T | |
X | g.18604059C>A | CA412359615 | CDKL5 | c.1135C>A (p.Leu379Met) c.1084C>A (p.Leu362Met) c.1003C>A (p.Leu335Met) n.1387C>A | |
X | g.18604059C>G | CA412359617 | CDKL5 | c.1135C>G (p.Leu379Val) c.1084C>G (p.Leu362Val) c.1003C>G (p.Leu335Val) n.1387C>G | |
X | g.18604059C>T | CA515627539 | CDKL5 | c.1135C>T (p.Leu379=) c.1084C>T (p.Leu362=) c.1003C>T (p.Leu335=) n.1387C>T | |
X | g.18604060T>A | CA412359619 | CDKL5 | c.1136T>A (p.Leu379Gln) c.1085T>A (p.Leu362Gln) c.1004T>A (p.Leu335Gln) n.1388T>A | |
X | g.18604060T>C | CA412359621 | CDKL5 | c.1136T>C (p.Leu379Pro) c.1085T>C (p.Leu362Pro) c.1004T>C (p.Leu335Pro) n.1388T>C | |
X | g.18604060T>G | CA10360357 | CDKL5 | c.1136T>G (p.Leu379Arg) c.1085T>G (p.Leu362Arg) c.1004T>G (p.Leu335Arg) n.1388T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604060T= | CA2417973819 | CDKL5 | c.1136T= (p.Leu379=) c.1085T= (p.Leu362=) c.1004T= (p.Leu335=) n.1388T= | |
X | g.18604060_18604063del | CA2695231303 | CDKL5 | c.1136_1139del (p.Leu379ProfsTer?) c.1085_1088del (p.Leu362ProfsTer?) c.1004_1007del (p.Leu335ProfsTer?) n.1388_1391del | |
X | g.18604061G>A | CA515627543 | CDKL5 | c.1137G>A (p.Leu379=) c.1086G>A (p.Leu362=) c.1005G>A (p.Leu335=) n.1389G>A | |
X | g.18604061G>C | CA515627542 | CDKL5 | c.1137G>C (p.Leu379=) c.1086G>C (p.Leu362=) c.1005G>C (p.Leu335=) n.1389G>C | |
X | g.18604061G>T | CA515627541 | CDKL5 | c.1137G>T (p.Leu379=) c.1086G>T (p.Leu362=) c.1005G>T (p.Leu335=) n.1389G>T | |
X | g.18604062C>A | CA326987724 | CDKL5 | c.1138C>A (p.His380Asn) c.1087C>A (p.His363Asn) c.1006C>A (p.His336Asn) n.1390C>A | dbSNP |
X | g.18604062C= | CA2417973820 | CDKL5 | c.1138C= (p.His380=) c.1087C= (p.His363=) c.1006C= (p.His336=) n.1390C= | |
X | g.18604062C>G | CA412359625 | CDKL5 | c.1138C>G (p.His380Asp) c.1087C>G (p.His363Asp) c.1006C>G (p.His336Asp) n.1390C>G | |
X | g.18604062C>T | CA412359627 | CDKL5 | c.1138C>T (p.His380Tyr) c.1087C>T (p.His363Tyr) c.1006C>T (p.His336Tyr) n.1390C>T | |
X | g.18604063A>C | CA412359629 | CDKL5 | c.1139A>C (p.His380Pro) c.1088A>C (p.His363Pro) c.1007A>C (p.His336Pro) n.1391A>C | |
X | g.18604063A>G | CA412359631 | CDKL5 | c.1139A>G (p.His380Arg) c.1088A>G (p.His363Arg) c.1007A>G (p.His336Arg) n.1391A>G | |
X | g.18604063A>T | CA412359633 | CDKL5 | c.1139A>T (p.His380Leu) c.1088A>T (p.His363Leu) c.1007A>T (p.His336Leu) n.1391A>T | |
X | g.18604064C>A | CA412359635 | CDKL5 | c.1140C>A (p.His380Gln) c.1089C>A (p.His363Gln) c.1008C>A (p.His336Gln) n.1392C>A | |
X | g.18604064C>G | CA412359637 | CDKL5 | c.1140C>G (p.His380Gln) c.1089C>G (p.His363Gln) c.1008C>G (p.His336Gln) n.1392C>G | |
X | g.18604064C>T | CA515627547 | CDKL5 | c.1140C>T (p.His380=) c.1089C>T (p.His363=) c.1008C>T (p.His336=) n.1392C>T | |
X | g.18604065A= | CA2417973821 | CDKL5 | c.1141A= (p.Thr381=) c.1090A= (p.Thr364=) c.1009A= (p.Thr337=) n.1393A= | |
X | g.18604065A>C | CA412359639 | CDKL5 | c.1141A>C (p.Thr381Pro) c.1090A>C (p.Thr364Pro) c.1009A>C (p.Thr337Pro) n.1393A>C | |
X | g.18604065A>G | CA412359641 | CDKL5 | c.1141A>G (p.Thr381Ala) c.1090A>G (p.Thr364Ala) c.1009A>G (p.Thr337Ala) n.1393A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604065A>T | CA412359643 | CDKL5 | c.1141A>T (p.Thr381Ser) c.1090A>T (p.Thr364Ser) c.1009A>T (p.Thr337Ser) n.1393A>T | |
X | g.18604066C>A | CA412359645 | CDKL5 | c.1142C>A (p.Thr381Asn) c.1091C>A (p.Thr364Asn) c.1010C>A (p.Thr337Asn) n.1394C>A | |
X | g.18604066C>G | CA412359647 | CDKL5 | c.1142C>G (p.Thr381Ser) c.1091C>G (p.Thr364Ser) c.1010C>G (p.Thr337Ser) n.1394C>G | |
X | g.18604066C>T | CA412359648 | CDKL5 | c.1142C>T (p.Thr381Ile) c.1091C>T (p.Thr364Ile) c.1010C>T (p.Thr337Ile) n.1394C>T | gnomAD v4 |
X | g.18604067C>A | CA515627551 | CDKL5 | c.1143C>A (p.Thr381=) c.1092C>A (p.Thr364=) c.1011C>A (p.Thr337=) n.1395C>A | COSMIC |
X | g.18604067C>G | CA515627552 | CDKL5 | c.1143C>G (p.Thr381=) c.1092C>G (p.Thr364=) c.1011C>G (p.Thr337=) n.1395C>G | |
X | g.18604067C>T | CA515627553 | CDKL5 | c.1143C>T (p.Thr381=) c.1092C>T (p.Thr364=) c.1011C>T (p.Thr337=) n.1395C>T | |
X | g.18604068A>C | CA412359655 | CDKL5 | c.1144A>C (p.Lys382Gln) c.1093A>C (p.Lys365Gln) c.1012A>C (p.Lys338Gln) n.1396A>C | gnomAD v4 |
X | g.18604068A>G | CA412359651 | CDKL5 | c.1144A>G (p.Lys382Glu) c.1093A>G (p.Lys365Glu) c.1012A>G (p.Lys338Glu) n.1396A>G | |
X | g.18604068A>T | CA412359653 | CDKL5 | c.1144A>T (p.Lys382Ter) c.1093A>T (p.Lys365Ter) c.1012A>T (p.Lys338Ter) n.1396A>T | |
X | g.18604069A>C | CA412359657 | CDKL5 | c.1145A>C (p.Lys382Thr) c.1094A>C (p.Lys365Thr) c.1013A>C (p.Lys338Thr) n.1397A>C | |
X | g.18604069A>G | CA412359658 | CDKL5 | c.1145A>G (p.Lys382Arg) c.1094A>G (p.Lys365Arg) c.1013A>G (p.Lys338Arg) n.1397A>G | gnomAD v4 |
X | g.18604069A>T | CA412359661 | CDKL5 | c.1145A>T (p.Lys382Ile) c.1094A>T (p.Lys365Ile) c.1013A>T (p.Lys338Ile) n.1397A>T | |
X | g.18604069_18604074delinsAAACCT | CA2417973822 | CDKL5 | c.1145_1150delinsAAACCT (p.Lys382=) c.1094_1099delinsAAACCT (p.Lys365=) c.1013_1018delinsAAACCT (p.Lys338=) n.1397_1402delinsAAACCT | |
X | g.18604070A= | CA2417973823 | CDKL5 | c.1146A= (p.Lys382=) c.1095A= (p.Lys365=) c.1014A= (p.Lys338=) n.1398A= | |
X | g.18604070A>C | CA412359663 | CDKL5 | c.1146A>C (p.Lys382Asn) c.1095A>C (p.Lys365Asn) c.1014A>C (p.Lys338Asn) n.1398A>C | |
X | g.18604070A>G | CA515627557 | CDKL5 | c.1146A>G (p.Lys382=) c.1095A>G (p.Lys365=) c.1014A>G (p.Lys338=) n.1398A>G | dbSNP |
X | g.18604070A>T | CA412359664 | CDKL5 | c.1146A>T (p.Lys382Asn) c.1095A>T (p.Lys365Asn) c.1014A>T (p.Lys338Asn) n.1398A>T | |
X | g.18604071_18604075del | CA913190338 | CDKL5 | c.1147_1151del (p.Thr383ProfsTer23) c.1096_1100del (p.Thr366ProfsTer23) c.1015_1019del (p.Thr339ProfsTer23) n.1399_1403del | ClinVar dbSNP |
X | g.18604071A>C | CA412359668 | CDKL5 | c.1147A>C (p.Thr383Pro) c.1096A>C (p.Thr366Pro) c.1015A>C (p.Thr339Pro) n.1399A>C | |
X | g.18604071A>G | CA412359671 | CDKL5 | c.1147A>G (p.Thr383Ala) c.1096A>G (p.Thr366Ala) c.1015A>G (p.Thr339Ala) n.1399A>G | |
X | g.18604071A>T | CA412359669 | CDKL5 | c.1147A>T (p.Thr383Ser) c.1096A>T (p.Thr366Ser) c.1015A>T (p.Thr339Ser) n.1399A>T | |
X | g.18604072C>A | CA412359673 | CDKL5 | c.1148C>A (p.Thr383Asn) c.1097C>A (p.Thr366Asn) c.1016C>A (p.Thr339Asn) n.1400C>A | |
X | g.18604072C>G | CA412359675 | CDKL5 | c.1148C>G (p.Thr383Ser) c.1097C>G (p.Thr366Ser) c.1016C>G (p.Thr339Ser) n.1400C>G | |
X | g.18604072C>T | CA412359677 | CDKL5 | c.1148C>T (p.Thr383Ile) c.1097C>T (p.Thr366Ile) c.1016C>T (p.Thr339Ile) n.1400C>T | |
X | g.18604073C>A | CA515627559 | CDKL5 | c.1149C>A (p.Thr383=) c.1098C>A (p.Thr366=) c.1017C>A (p.Thr339=) n.1401C>A | |
X | g.18604073C>G | CA515627560 | CDKL5 | c.1149C>G (p.Thr383=) c.1098C>G (p.Thr366=) c.1017C>G (p.Thr339=) n.1401C>G | |
X | g.18604073C>T | CA515627561 | CDKL5 | c.1149C>T (p.Thr383=) c.1098C>T (p.Thr366=) c.1017C>T (p.Thr339=) n.1401C>T | |
X | g.18604074T>A | CA412359679 | CDKL5 | c.1150T>A (p.Tyr384Asn) c.1099T>A (p.Tyr367Asn) c.1018T>A (p.Tyr340Asn) n.1402T>A | |
X | g.18604074T>C | CA412359681 | CDKL5 | c.1150T>C (p.Tyr384His) c.1099T>C (p.Tyr367His) c.1018T>C (p.Tyr340His) n.1402T>C | |
X | g.18604074T>G | CA412359682 | CDKL5 | c.1150T>G (p.Tyr384Asp) c.1099T>G (p.Tyr367Asp) c.1018T>G (p.Tyr340Asp) n.1402T>G | |
X | g.18604075A>C | CA412359684 | CDKL5 | c.1151A>C (p.Tyr384Ser) c.1100A>C (p.Tyr367Ser) c.1019A>C (p.Tyr340Ser) n.1403A>C | |
X | g.18604075A>G | CA412359686 | CDKL5 | c.1151A>G (p.Tyr384Cys) c.1100A>G (p.Tyr367Cys) c.1019A>G (p.Tyr340Cys) n.1403A>G | |
X | g.18604075A>T | CA412359688 | CDKL5 | c.1151A>T (p.Tyr384Phe) c.1100A>T (p.Tyr367Phe) c.1019A>T (p.Tyr340Phe) n.1403A>T | |
X | g.18604076C>A | CA412359690 | CDKL5 | c.1152C>A (p.Tyr384Ter) c.1101C>A (p.Tyr367Ter) c.1020C>A (p.Tyr340Ter) n.1404C>A | |
X | g.18604076C= | CA2417973826 | CDKL5 | c.1152C= (p.Tyr384=) c.1101C= (p.Tyr367=) c.1020C= (p.Tyr340=) n.1404C= | |
X | g.18604076C>G | CA200935 | CDKL5 | c.1152C>G (p.Tyr384Ter) c.1101C>G (p.Tyr367Ter) c.1020C>G (p.Tyr340Ter) n.1404C>G | ClinVar dbSNP |
X | g.18604076C>T | CA515627565 | CDKL5 | c.1152C>T (p.Tyr384=) c.1101C>T (p.Tyr367=) c.1020C>T (p.Tyr340=) n.1404C>T |