| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18604161T>A | CA412360059 | CDKL5 | c.1237T>A (p.Ser413Thr) c.1186T>A (p.Ser396Thr) c.1105T>A (p.Ser369Thr) n.1489T>A | |
| X | g.18604161T>C | CA412360061 | CDKL5 | c.1237T>C (p.Ser413Pro) c.1186T>C (p.Ser396Pro) c.1105T>C (p.Ser369Pro) n.1489T>C | |
| X | g.18604161T>G | CA412360062 | CDKL5 | c.1237T>G (p.Ser413Ala) c.1186T>G (p.Ser396Ala) c.1105T>G (p.Ser369Ala) n.1489T>G | |
| X | g.18604162C>A | CA412360063 | CDKL5 | c.1238C>A (p.Ser413Ter) c.1187C>A (p.Ser396Ter) c.1106C>A (p.Ser369Ter) n.1490C>A | ClinVar dbSNP |
| X | g.18604162C= | CA2417973910 | CDKL5 | c.1238C= (p.Ser413=) c.1187C= (p.Ser396=) c.1106C= (p.Ser369=) n.1490C= | |
| X | g.18604162C>G | CA170440 | CDKL5 | c.1238C>G (p.Ser413Ter) c.1187C>G (p.Ser396Ter) c.1106C>G (p.Ser369Ter) n.1490C>G | ClinVar dbSNP |
| X | g.18604162C>T | CA412360066 | CDKL5 | c.1238C>T (p.Ser413Leu) c.1187C>T (p.Ser396Leu) c.1106C>T (p.Ser369Leu) n.1490C>T | |
| X | g.18604163A>C | CA515627672 | CDKL5 | c.1239A>C (p.Ser413=) c.1188A>C (p.Ser396=) c.1107A>C (p.Ser369=) n.1491A>C | |
| X | g.18604163A>G | CA515627673 | CDKL5 | c.1239A>G (p.Ser413=) c.1188A>G (p.Ser396=) c.1107A>G (p.Ser369=) n.1491A>G | |
| X | g.18604163A>T | CA515627675 | CDKL5 | c.1239A>T (p.Ser413=) c.1188A>T (p.Ser396=) c.1107A>T (p.Ser369=) n.1491A>T | |
| X | g.18604167dup | CA2580100409 | CDKL5 | c.1243dup (p.Thr415AsnfsTer4) c.1192dup (p.Thr398AsnfsTer4) c.1111dup (p.Thr371AsnfsTer4) n.1495dup | ClinVar |
| X | g.18604164A>C | CA412360071 | CDKL5 | c.1240A>C (p.Lys414Gln) c.1189A>C (p.Lys397Gln) c.1108A>C (p.Lys370Gln) n.1492A>C | |
| X | g.18604164A>G | CA412360068 | CDKL5 | c.1240A>G (p.Lys414Glu) c.1189A>G (p.Lys397Glu) c.1108A>G (p.Lys370Glu) n.1492A>G | |
| X | g.18604164A>T | CA412360067 | CDKL5 | c.1240A>T (p.Lys414Ter) c.1189A>T (p.Lys397Ter) c.1108A>T (p.Lys370Ter) n.1492A>T | |
| X | g.18604165A>C | CA412360072 | CDKL5 | c.1241A>C (p.Lys414Thr) c.1190A>C (p.Lys397Thr) c.1109A>C (p.Lys370Thr) n.1493A>C | |
| X | g.18604165A>G | CA412360074 | CDKL5 | c.1241A>G (p.Lys414Arg) c.1190A>G (p.Lys397Arg) c.1109A>G (p.Lys370Arg) n.1493A>G | |
| X | g.18604165A>T | CA412360076 | CDKL5 | c.1241A>T (p.Lys414Ile) c.1190A>T (p.Lys397Ile) c.1109A>T (p.Lys370Ile) n.1493A>T | |
| X | g.18604166A= | CA2417973917 | CDKL5 | c.1242A= (p.Lys414=) c.1191A= (p.Lys397=) c.1110A= (p.Lys370=) n.1494A= | |
| X | g.18604166A>C | CA412360077 | CDKL5 | c.1242A>C (p.Lys414Asn) c.1191A>C (p.Lys397Asn) c.1110A>C (p.Lys370Asn) n.1494A>C | |
| X | g.18604166A>G | CA515627678 | CDKL5 | c.1242A>G (p.Lys414=) c.1191A>G (p.Lys397=) c.1110A>G (p.Lys370=) n.1494A>G | ClinVar dbSNP |
| X | g.18604166A>T | CA412360078 | CDKL5 | c.1242A>T (p.Lys414Asn) c.1191A>T (p.Lys397Asn) c.1110A>T (p.Lys370Asn) n.1494A>T | |
| X | g.18604167A= | CA2417973921 | CDKL5 | c.1243A= (p.Thr415=) c.1192A= (p.Thr398=) c.1111A= (p.Thr371=) n.1495A= | |
| X | g.18604167A>C | CA412360079 | CDKL5 | c.1243A>C (p.Thr415Pro) c.1192A>C (p.Thr398Pro) c.1111A>C (p.Thr371Pro) n.1495A>C | |
| X | g.18604167A>G | CA10360369 | CDKL5 | c.1243A>G (p.Thr415Ala) c.1192A>G (p.Thr398Ala) c.1111A>G (p.Thr371Ala) n.1495A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18604167A>T | CA412360083 | CDKL5 | c.1243A>T (p.Thr415Ser) c.1192A>T (p.Thr398Ser) c.1111A>T (p.Thr371Ser) n.1495A>T | |
| X | g.18604168_18604169del | CA2695231307 | CDKL5 | c.1244_1245del (p.Thr415ArgfsTer3) c.1193_1194del (p.Thr398ArgfsTer3) c.1112_1113del (p.Thr371ArgfsTer3) n.1496_1497del | |
| X | g.18604168C>A | CA412360084 | CDKL5 | c.1244C>A (p.Thr415Lys) c.1193C>A (p.Thr398Lys) c.1112C>A (p.Thr371Lys) n.1496C>A | |
| X | g.18604168C>G | CA412360086 | CDKL5 | c.1244C>G (p.Thr415Arg) c.1193C>G (p.Thr398Arg) c.1112C>G (p.Thr371Arg) n.1496C>G | |
| X | g.18604168C>T | CA412360089 | CDKL5 | c.1244C>T (p.Thr415Ile) c.1193C>T (p.Thr398Ile) c.1112C>T (p.Thr371Ile) n.1496C>T | |
| X | g.18604168_18604170delinsCAG | CA2417973924 | CDKL5 | c.1244_1246delinsCAG (p.Thr415=) c.1193_1195delinsCAG (p.Thr398=) c.1112_1114delinsCAG (p.Thr371=) n.1496_1498delinsCAG | |
| X | g.18604169A>C | CA515627685 | CDKL5 | c.1245A>C (p.Thr415=) c.1194A>C (p.Thr398=) c.1113A>C (p.Thr371=) n.1497A>C | |
| X | g.18604169A>G | CA515627686 | CDKL5 | c.1245A>G (p.Thr415=) c.1194A>G (p.Thr398=) c.1113A>G (p.Thr371=) n.1497A>G | gnomAD v4 |
| X | g.18604169A>T | CA515627687 | CDKL5 | c.1245A>T (p.Thr415=) c.1194A>T (p.Thr398=) c.1113A>T (p.Thr371=) n.1497A>T | |
| X | g.18604171_18604172del | CA235608 | CDKL5 | c.1247_1248del (p.Glu416ValfsTer2) c.1196_1197del (p.Glu399ValfsTer2) c.1115_1116del (p.Glu372ValfsTer2) n.1499_1500del | ClinVar dbSNP |
| X | g.18604170G>A | CA412360096 | CDKL5 | c.1246G>A (p.Glu416Lys) c.1195G>A (p.Glu399Lys) c.1114G>A (p.Glu372Lys) n.1498G>A | |
| X | g.18604170G>C | CA412360091 | CDKL5 | c.1246G>C (p.Glu416Gln) c.1195G>C (p.Glu399Gln) c.1114G>C (p.Glu372Gln) n.1498G>C | |
| X | g.18604170G= | CA2417973930 | CDKL5 | c.1246G= (p.Glu416=) c.1195G= (p.Glu399=) c.1114G= (p.Glu372=) n.1498G= | |
| X | g.18604170G>T | CA412360098 | CDKL5 | c.1246G>T (p.Glu416Ter) c.1195G>T (p.Glu399Ter) c.1114G>T (p.Glu372Ter) n.1498G>T | ClinVar dbSNP |
| X | g.18604171A>C | CA412360100 | CDKL5 | c.1247A>C (p.Glu416Ala) c.1196A>C (p.Glu399Ala) c.1115A>C (p.Glu372Ala) n.1499A>C | |
| X | g.18604171A>G | CA412360104 | CDKL5 | c.1247A>G (p.Glu416Gly) c.1196A>G (p.Glu399Gly) c.1115A>G (p.Glu372Gly) n.1499A>G | |
| X | g.18604171A>T | CA412360106 | CDKL5 | c.1247A>T (p.Glu416Val) c.1196A>T (p.Glu399Val) c.1115A>T (p.Glu372Val) n.1499A>T | |
| X | g.18604172G>A | CA515627694 | CDKL5 | c.1248G>A (p.Glu416=) c.1197G>A (p.Glu399=) c.1116G>A (p.Glu372=) n.1500G>A | gnomAD v4 |
| X | g.18604172G>C | CA412360108 | CDKL5 | c.1248G>C (p.Glu416Asp) c.1197G>C (p.Glu399Asp) c.1116G>C (p.Glu372Asp) n.1500G>C | |
| X | g.18604172G>T | CA412360109 | CDKL5 | c.1248G>T (p.Glu416Asp) c.1197G>T (p.Glu399Asp) c.1116G>T (p.Glu372Asp) n.1500G>T | |
| X | g.18604173T>A | CA412360113 | CDKL5 | c.1249T>A (p.Phe417Ile) c.1198T>A (p.Phe400Ile) c.1117T>A (p.Phe373Ile) n.1501T>A | |
| X | g.18604173T>C | CA412360111 | CDKL5 | c.1249T>C (p.Phe417Leu) c.1198T>C (p.Phe400Leu) c.1117T>C (p.Phe373Leu) n.1501T>C | |
| X | g.18604173T>G | CA412360112 | CDKL5 | c.1249T>G (p.Phe417Val) c.1198T>G (p.Phe400Val) c.1117T>G (p.Phe373Val) n.1501T>G | |
| X | g.18604174T>A | CA412360115 | CDKL5 | c.1250T>A (p.Phe417Tyr) c.1199T>A (p.Phe400Tyr) c.1118T>A (p.Phe373Tyr) n.1502T>A | |
| X | g.18604174T>C | CA412360117 | CDKL5 | c.1250T>C (p.Phe417Ser) c.1199T>C (p.Phe400Ser) c.1118T>C (p.Phe373Ser) n.1502T>C | |
| X | g.18604174T>G | CA412360119 | CDKL5 | c.1250T>G (p.Phe417Cys) c.1199T>G (p.Phe400Cys) c.1118T>G (p.Phe373Cys) n.1502T>G | |
| X | g.18604175T>A | CA412360121 | CDKL5 | c.1251T>A (p.Phe417Leu) c.1200T>A (p.Phe400Leu) c.1119T>A (p.Phe373Leu) n.1503T>A | |
| X | g.18604175T>C | CA515627696 | CDKL5 | c.1251T>C (p.Phe417=) c.1200T>C (p.Phe400=) c.1119T>C (p.Phe373=) n.1503T>C | |
| X | g.18604175T>G | CA412360123 | CDKL5 | c.1251T>G (p.Phe417Leu) c.1200T>G (p.Phe400Leu) c.1119T>G (p.Phe373Leu) n.1503T>G | |
| X | g.18604176G>A | CA412360126 | CDKL5 | c.1252G>A (p.Asp418Asn) c.1201G>A (p.Asp401Asn) c.1120G>A (p.Asp374Asn) n.1504G>A | |
| X | g.18604176G>C | CA412360129 | CDKL5 | c.1252G>C (p.Asp418His) c.1201G>C (p.Asp401His) c.1120G>C (p.Asp374His) n.1504G>C | |
| X | g.18604176G>T | CA412360127 | CDKL5 | c.1252G>T (p.Asp418Tyr) c.1201G>T (p.Asp401Tyr) c.1120G>T (p.Asp374Tyr) n.1504G>T | |
| X | g.18604177A>C | CA412360131 | CDKL5 | c.1253A>C (p.Asp418Ala) c.1202A>C (p.Asp401Ala) c.1121A>C (p.Asp374Ala) n.1505A>C | |
| X | g.18604177A>G | CA412360132 | CDKL5 | c.1253A>G (p.Asp418Gly) c.1202A>G (p.Asp401Gly) c.1121A>G (p.Asp374Gly) n.1505A>G | |
| X | g.18604177A>T | CA412360134 | CDKL5 | c.1253A>T (p.Asp418Val) c.1202A>T (p.Asp401Val) c.1121A>T (p.Asp374Val) n.1505A>T | |
| X | g.18604178T>A | CA412360136 | CDKL5 | c.1254T>A (p.Asp418Glu) c.1203T>A (p.Asp401Glu) c.1122T>A (p.Asp374Glu) n.1506T>A | |
| X | g.18604178T>C | CA515627700 | CDKL5 | c.1254T>C (p.Asp418=) c.1203T>C (p.Asp401=) c.1122T>C (p.Asp374=) n.1506T>C | |
| X | g.18604178T>G | CA412360138 | CDKL5 | c.1254T>G (p.Asp418Glu) c.1203T>G (p.Asp401Glu) c.1122T>G (p.Asp374Glu) n.1506T>G | |
| X | g.18604179T>A | CA412360141 | CDKL5 | c.1255T>A (p.Phe419Ile) c.1204T>A (p.Phe402Ile) c.1123T>A (p.Phe375Ile) n.1507T>A | |
| X | g.18604179T>C | CA412360143 | CDKL5 | c.1255T>C (p.Phe419Leu) c.1204T>C (p.Phe402Leu) c.1123T>C (p.Phe375Leu) n.1507T>C | dbSNP gnomAD v2 |
| X | g.18604179T>G | CA412360145 | CDKL5 | c.1255T>G (p.Phe419Val) c.1204T>G (p.Phe402Val) c.1123T>G (p.Phe375Val) n.1507T>G | |
| X | g.18604179T= | CA2417973935 | CDKL5 | c.1255T= (p.Phe419=) c.1204T= (p.Phe402=) c.1123T= (p.Phe375=) n.1507T= | |
| X | g.18604180T>A | CA412360147 | CDKL5 | c.1256T>A (p.Phe419Tyr) c.1205T>A (p.Phe402Tyr) c.1124T>A (p.Phe375Tyr) n.1508T>A | |
| X | g.18604180T>C | CA412360148 | CDKL5 | c.1256T>C (p.Phe419Ser) c.1205T>C (p.Phe402Ser) c.1124T>C (p.Phe375Ser) n.1508T>C | |
| X | g.18604180T>G | CA412360150 | CDKL5 | c.1256T>G (p.Phe419Cys) c.1205T>G (p.Phe402Cys) c.1124T>G (p.Phe375Cys) n.1508T>G | |
| X | g.18604181T>A | CA412360155 | CDKL5 | c.1257T>A (p.Phe419Leu) c.1206T>A (p.Phe402Leu) c.1125T>A (p.Phe375Leu) n.1509T>A | |
| X | g.18604181T>C | CA515627705 | CDKL5 | c.1257T>C (p.Phe419=) c.1206T>C (p.Phe402=) c.1125T>C (p.Phe375=) n.1509T>C | |
| X | g.18604181T>G | CA412360153 | CDKL5 | c.1257T>G (p.Phe419Leu) c.1206T>G (p.Phe402Leu) c.1125T>G (p.Phe375Leu) n.1509T>G | |
| X | g.18604182A>C | CA412360157 | CDKL5 | c.1258A>C (p.Asn420His) c.1207A>C (p.Asn403His) c.1126A>C (p.Asn376His) n.1510A>C | |
| X | g.18604182A>G | CA412360159 | CDKL5 | c.1258A>G (p.Asn420Asp) c.1207A>G (p.Asn403Asp) c.1126A>G (p.Asn376Asp) n.1510A>G | |
| X | g.18604182A>T | CA412360161 | CDKL5 | c.1258A>T (p.Asn420Tyr) c.1207A>T (p.Asn403Tyr) c.1126A>T (p.Asn376Tyr) n.1510A>T | |
| X | g.18604183A>C | CA412360163 | CDKL5 | c.1259A>C (p.Asn420Thr) c.1208A>C (p.Asn403Thr) c.1127A>C (p.Asn376Thr) n.1511A>C | |
| X | g.18604183A>G | CA412360164 | CDKL5 | c.1259A>G (p.Asn420Ser) c.1208A>G (p.Asn403Ser) c.1127A>G (p.Asn376Ser) n.1511A>G | gnomAD v4 |
| X | g.18604183A>T | CA412360166 | CDKL5 | c.1259A>T (p.Asn420Ile) c.1208A>T (p.Asn403Ile) c.1127A>T (p.Asn376Ile) n.1511A>T | |
| X | g.18604184T>A | CA412360168 | CDKL5 | c.1260T>A (p.Asn420Lys) c.1209T>A (p.Asn403Lys) c.1128T>A (p.Asn376Lys) n.1512T>A | |
| X | g.18604184T>C | CA515627707 | CDKL5 | c.1260T>C (p.Asn420=) c.1209T>C (p.Asn403=) c.1128T>C (p.Asn376=) n.1512T>C | |
| X | g.18604184T>G | CA412360169 | CDKL5 | c.1260T>G (p.Asn420Lys) c.1209T>G (p.Asn403Lys) c.1128T>G (p.Asn376Lys) n.1512T>G | |
| X | g.18604185A>C | CA412360172 | CDKL5 | c.1261A>C (p.Ile421Leu) c.1210A>C (p.Ile404Leu) c.1129A>C (p.Ile377Leu) n.1513A>C | |
| X | g.18604185A>G | CA412360175 | CDKL5 | c.1261A>G (p.Ile421Val) c.1210A>G (p.Ile404Val) c.1129A>G (p.Ile377Val) n.1513A>G | |
| X | g.18604185A>T | CA412360173 | CDKL5 | c.1261A>T (p.Ile421Phe) c.1210A>T (p.Ile404Phe) c.1129A>T (p.Ile377Phe) n.1513A>T | |
| X | g.18604186T>A | CA412360177 | CDKL5 | c.1262T>A (p.Ile421Asn) c.1211T>A (p.Ile404Asn) c.1130T>A (p.Ile377Asn) n.1514T>A | |
| X | g.18604186T>C | CA412360178 | CDKL5 | c.1262T>C (p.Ile421Thr) c.1211T>C (p.Ile404Thr) c.1130T>C (p.Ile377Thr) n.1514T>C | dbSNP |
| X | g.18604186T>G | CA412360180 | CDKL5 | c.1262T>G (p.Ile421Ser) c.1211T>G (p.Ile404Ser) c.1130T>G (p.Ile377Ser) n.1514T>G | |
| X | g.18604186T= | CA2417973937 | CDKL5 | c.1262T= (p.Ile421=) c.1211T= (p.Ile404=) c.1130T= (p.Ile377=) n.1514T= | |
| X | g.18604187T>A | CA515627712 | CDKL5 | c.1263T>A (p.Ile421=) c.1212T>A (p.Ile404=) c.1131T>A (p.Ile377=) n.1515T>A | |
| X | g.18604187T>C | CA515627713 | CDKL5 | c.1263T>C (p.Ile421=) c.1212T>C (p.Ile404=) c.1131T>C (p.Ile377=) n.1515T>C | |
| X | g.18604187T>G | CA412360182 | CDKL5 | c.1263T>G (p.Ile421Met) c.1212T>G (p.Ile404Met) c.1131T>G (p.Ile377Met) n.1515T>G | |
| X | g.18604188G>A | CA412360184 | CDKL5 | c.1264G>A (p.Asp422Asn) c.1213G>A (p.Asp405Asn) c.1132G>A (p.Asp378Asn) n.1516G>A | COSMIC |
| X | g.18604188G>C | CA412360188 | CDKL5 | c.1264G>C (p.Asp422His) c.1213G>C (p.Asp405His) c.1132G>C (p.Asp378His) n.1516G>C | |
| X | g.18604188G>T | CA412360186 | CDKL5 | c.1264G>T (p.Asp422Tyr) c.1213G>T (p.Asp405Tyr) c.1132G>T (p.Asp378Tyr) n.1516G>T | |
| X | g.18604189A>C | CA412360191 | CDKL5 | c.1265A>C (p.Asp422Ala) c.1214A>C (p.Asp405Ala) c.1133A>C (p.Asp378Ala) n.1517A>C | |
| X | g.18604189A>G | CA412360192 | CDKL5 | c.1265A>G (p.Asp422Gly) c.1214A>G (p.Asp405Gly) c.1133A>G (p.Asp378Gly) n.1517A>G | |
| X | g.18604189A>T | CA412360193 | CDKL5 | c.1265A>T (p.Asp422Val) c.1214A>T (p.Asp405Val) c.1133A>T (p.Asp378Val) n.1517A>T | |
| X | g.18604190C>A | CA199421 | CDKL5 | c.1266C>A (p.Asp422Glu) c.1215C>A (p.Asp405Glu) c.1134C>A (p.Asp378Glu) n.1518C>A | ClinVar dbSNP |
| X | g.18604190C= | CA2417973941 | CDKL5 | c.1266C= (p.Asp422=) c.1215C= (p.Asp405=) c.1134C= (p.Asp378=) n.1518C= | |
| X | g.18604190C>G | CA412360197 | CDKL5 | c.1266C>G (p.Asp422Glu) c.1215C>G (p.Asp405Glu) c.1134C>G (p.Asp378Glu) n.1518C>G | |
| X | g.18604190C>T | CA10360370 | CDKL5 | c.1266C>T (p.Asp422=) c.1215C>T (p.Asp405=) c.1134C>T (p.Asp378=) n.1518C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18604191C>A | CA412360201 | CDKL5 | c.1267C>A (p.Pro423Thr) c.1216C>A (p.Pro406Thr) c.1135C>A (p.Pro379Thr) n.1519C>A | |
| X | g.18604191C= | CA2417973943 | CDKL5 | c.1267C= (p.Pro423=) c.1216C= (p.Pro406=) c.1135C= (p.Pro379=) n.1519C= | |
| X | g.18604191C>G | CA412360202 | CDKL5 | c.1267C>G (p.Pro423Ala) c.1216C>G (p.Pro406Ala) c.1135C>G (p.Pro379Ala) n.1519C>G | |
| X | g.18604191C>T | CA412360203 | CDKL5 | c.1267C>T (p.Pro423Ser) c.1216C>T (p.Pro406Ser) c.1135C>T (p.Pro379Ser) n.1519C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18604192C>A | CA412360206 | CDKL5 | c.1268C>A (p.Pro423Gln) c.1217C>A (p.Pro406Gln) c.1136C>A (p.Pro379Gln) n.1520C>A | |
| X | g.18604192C>G | CA412360208 | CDKL5 | c.1268C>G (p.Pro423Arg) c.1217C>G (p.Pro406Arg) c.1136C>G (p.Pro379Arg) n.1520C>G | |
| X | g.18604192C>T | CA412360210 | CDKL5 | c.1268C>T (p.Pro423Leu) c.1217C>T (p.Pro406Leu) c.1136C>T (p.Pro379Leu) n.1520C>T | |
| X | g.18604193A>C | CA515627720 | CDKL5 | c.1269A>C (p.Pro423=) c.1218A>C (p.Pro406=) c.1137A>C (p.Pro379=) n.1521A>C | |
| X | g.18604193A>G | CA515627721 | CDKL5 | c.1269A>G (p.Pro423=) c.1218A>G (p.Pro406=) c.1137A>G (p.Pro379=) n.1521A>G | |
| X | g.18604193A>T | CA515627724 | CDKL5 | c.1269A>T (p.Pro423=) c.1218A>T (p.Pro406=) c.1137A>T (p.Pro379=) n.1521A>T | |
| X | g.18604194A>C | CA412360215 | CDKL5 | c.1270A>C (p.Lys424Gln) c.1219A>C (p.Lys407Gln) c.1138A>C (p.Lys380Gln) n.1522A>C | |
| X | g.18604194A>G | CA412360212 | CDKL5 | c.1270A>G (p.Lys424Glu) c.1219A>G (p.Lys407Glu) c.1138A>G (p.Lys380Glu) n.1522A>G | |
| X | g.18604194A>T | CA412360214 | CDKL5 | c.1270A>T (p.Lys424Ter) c.1219A>T (p.Lys407Ter) c.1138A>T (p.Lys380Ter) n.1522A>T | |
| X | g.18604195A>C | CA412360218 | CDKL5 | c.1271A>C (p.Lys424Thr) c.1220A>C (p.Lys407Thr) c.1139A>C (p.Lys380Thr) n.1523A>C | gnomAD v4 COSMIC |
| X | g.18604195A>G | CA412360220 | CDKL5 | c.1271A>G (p.Lys424Arg) c.1220A>G (p.Lys407Arg) c.1139A>G (p.Lys380Arg) n.1523A>G | |
| X | g.18604195A>T | CA412360221 | CDKL5 | c.1271A>T (p.Lys424Met) c.1220A>T (p.Lys407Met) c.1139A>T (p.Lys380Met) n.1523A>T | |
| X | g.18604196G>A | CA515627728 | CDKL5 | c.1272G>A (p.Lys424=) c.1221G>A (p.Lys407=) c.1140G>A (p.Lys380=) n.1524G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.18604196G>C | CA412360224 | CDKL5 | c.1272G>C (p.Lys424Asn) c.1221G>C (p.Lys407Asn) c.1140G>C (p.Lys380Asn) n.1524G>C | |
| X | g.18604196G= | CA2417973946 | CDKL5 | c.1272G= (p.Lys424=) c.1221G= (p.Lys407=) c.1140G= (p.Lys380=) n.1524G= | |
| X | g.18604196G>T | CA412360226 | CDKL5 | c.1272G>T (p.Lys424Asn) c.1221G>T (p.Lys407Asn) c.1140G>T (p.Lys380Asn) n.1524G>T | |
| X | g.18604197C>A | CA412360230 | CDKL5 | c.1273C>A (p.Pro425Thr) c.1222C>A (p.Pro408Thr) c.1141C>A (p.Pro381Thr) n.1525C>A | |
| X | g.18604197C= | CA2417973949 | CDKL5 | c.1273C= (p.Pro425=) c.1222C= (p.Pro408=) c.1141C= (p.Pro381=) n.1525C= | |
| X | g.18604197C>G | CA412360229 | CDKL5 | c.1273C>G (p.Pro425Ala) c.1222C>G (p.Pro408Ala) c.1141C>G (p.Pro381Ala) n.1525C>G | |
| X | g.18604197C>T | CA412360227 | CDKL5 | c.1273C>T (p.Pro425Ser) c.1222C>T (p.Pro408Ser) c.1141C>T (p.Pro381Ser) n.1525C>T | ClinVar dbSNP |
| X | g.18604198C>A | CA412360233 | CDKL5 | c.1274C>A (p.Pro425His) c.1223C>A (p.Pro408His) c.1142C>A (p.Pro381His) n.1526C>A | |
| X | g.18604198C>G | CA412360235 | CDKL5 | c.1274C>G (p.Pro425Arg) c.1223C>G (p.Pro408Arg) c.1142C>G (p.Pro381Arg) n.1526C>G | |
| X | g.18604198C>T | CA412360237 | CDKL5 | c.1274C>T (p.Pro425Leu) c.1223C>T (p.Pro408Leu) c.1142C>T (p.Pro381Leu) n.1526C>T | |
| X | g.18604199T>A | CA515627735 | CDKL5 | c.1275T>A (p.Pro425=) c.1224T>A (p.Pro408=) c.1143T>A (p.Pro381=) n.1527T>A | |
| X | g.18604199T>C | CA515627736 | CDKL5 | c.1275T>C (p.Pro425=) c.1224T>C (p.Pro408=) c.1143T>C (p.Pro381=) n.1527T>C | |
| X | g.18604199T>G | CA515627737 | CDKL5 | c.1275T>G (p.Pro425=) c.1224T>G (p.Pro408=) c.1143T>G (p.Pro381=) n.1527T>G | |
| X | g.18604200T>A | CA412360239 | CDKL5 | c.1276T>A (p.Ser426Thr) c.1225T>A (p.Ser409Thr) c.1144T>A (p.Ser382Thr) n.1528T>A | |
| X | g.18604200T>C | CA412360241 | CDKL5 | c.1276T>C (p.Ser426Pro) c.1225T>C (p.Ser409Pro) c.1144T>C (p.Ser382Pro) n.1528T>C | |
| X | g.18604200T>G | CA412360242 | CDKL5 | c.1276T>G (p.Ser426Ala) c.1225T>G (p.Ser409Ala) c.1144T>G (p.Ser382Ala) n.1528T>G | |
| X | g.18604201C>A | CA412360247 | CDKL5 | c.1277C>A (p.Ser426Ter) c.1226C>A (p.Ser409Ter) c.1145C>A (p.Ser382Ter) n.1529C>A | |
| X | g.18604201C>G | CA412360245 | CDKL5 | c.1277C>G (p.Ser426Ter) c.1226C>G (p.Ser409Ter) c.1145C>G (p.Ser382Ter) n.1529C>G | |
| X | g.18604201C>T | CA412360246 | CDKL5 | c.1277C>T (p.Ser426Leu) c.1226C>T (p.Ser409Leu) c.1145C>T (p.Ser382Leu) n.1529C>T | |
| X | g.18604202A= | CA2417973954 | CDKL5 | c.1278A= (p.Ser426=) c.1227A= (p.Ser409=) c.1146A= (p.Ser382=) n.1530A= | |
| X | g.18604202A>C | CA170442 | CDKL5 | c.1278A>C (p.Ser426=) c.1227A>C (p.Ser409=) c.1146A>C (p.Ser382=) n.1530A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18604202A>G | CA515627742 | CDKL5 | c.1278A>G (p.Ser426=) c.1227A>G (p.Ser409=) c.1146A>G (p.Ser382=) n.1530A>G | |
| X | g.18604202A>T | CA515627743 | CDKL5 | c.1278A>T (p.Ser426=) c.1227A>T (p.Ser409=) c.1146A>T (p.Ser382=) n.1530A>T | |
| X | g.18604203G>A | CA412360250 | CDKL5 | c.1279G>A (p.Glu427Lys) c.1228G>A (p.Glu410Lys) c.1147G>A (p.Glu383Lys) n.1531G>A | |
| X | g.18604203G>C | CA412360251 | CDKL5 | c.1279G>C (p.Glu427Gln) c.1228G>C (p.Glu410Gln) c.1147G>C (p.Glu383Gln) n.1531G>C | |
| X | g.18604203G>T | CA412360253 | CDKL5 | c.1279G>T (p.Glu427Ter) c.1228G>T (p.Glu410Ter) c.1147G>T (p.Glu383Ter) n.1531G>T | |
| X | g.18604204A>C | CA412360255 | CDKL5 | c.1280A>C (p.Glu427Ala) c.1229A>C (p.Glu410Ala) c.1148A>C (p.Glu383Ala) n.1532A>C | |
| X | g.18604204A>G | CA412360257 | CDKL5 | c.1280A>G (p.Glu427Gly) c.1229A>G (p.Glu410Gly) c.1148A>G (p.Glu383Gly) n.1532A>G | |
| X | g.18604204A>T | CA412360259 | CDKL5 | c.1280A>T (p.Glu427Val) c.1229A>T (p.Glu410Val) c.1148A>T (p.Glu383Val) n.1532A>T | |
| X | g.18604205A>C | CA412360261 | CDKL5 | c.1281A>C (p.Glu427Asp) c.1230A>C (p.Glu410Asp) c.1149A>C (p.Glu383Asp) n.1533A>C | |
| X | g.18604205A>G | CA515627748 | CDKL5 | c.1281A>G (p.Glu427=) c.1230A>G (p.Glu410=) c.1149A>G (p.Glu383=) n.1533A>G | |
| X | g.18604205A>T | CA412360262 | CDKL5 | c.1281A>T (p.Glu427Asp) c.1230A>T (p.Glu410Asp) c.1149A>T (p.Glu383Asp) n.1533A>T | |
| X | g.18604206G>A | CA412360264 | CDKL5 | c.1282G>A (p.Gly428Ser) c.1231G>A (p.Gly411Ser) c.1150G>A (p.Gly384Ser) n.1534G>A | |
| X | g.18604206G>C | CA412360266 | CDKL5 | c.1282G>C (p.Gly428Arg) c.1231G>C (p.Gly411Arg) c.1150G>C (p.Gly384Arg) n.1534G>C | |
| X | g.18604206G>T | CA412360268 | CDKL5 | c.1282G>T (p.Gly428Cys) c.1231G>T (p.Gly411Cys) c.1150G>T (p.Gly384Cys) n.1534G>T | |
| X | g.18604207G>A | CA412360269 | CDKL5 | c.1283G>A (p.Gly428Asp) c.1232G>A (p.Gly411Asp) c.1151G>A (p.Gly384Asp) n.1535G>A | COSMIC |
| X | g.18604207G>C | CA412360273 | CDKL5 | c.1283G>C (p.Gly428Ala) c.1232G>C (p.Gly411Ala) c.1151G>C (p.Gly384Ala) n.1535G>C | gnomAD v4 |
| X | g.18604207G>T | CA412360271 | CDKL5 | c.1283G>T (p.Gly428Val) c.1232G>T (p.Gly411Val) c.1151G>T (p.Gly384Val) n.1535G>T | |
| X | g.18604208C>A | CA515627756 | CDKL5 | c.1284C>A (p.Gly428=) c.1233C>A (p.Gly411=) c.1152C>A (p.Gly384=) n.1536C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18604208C= | CA2417973961 | CDKL5 | c.1284C= (p.Gly428=) c.1233C= (p.Gly411=) c.1152C= (p.Gly384=) n.1536C= | |
| X | g.18604208C>G | CA515627755 | CDKL5 | c.1284C>G (p.Gly428=) c.1233C>G (p.Gly411=) c.1152C>G (p.Gly384=) n.1536C>G | |
| X | g.18604208C>T | CA515627753 | CDKL5 | c.1284C>T (p.Gly428=) c.1233C>T (p.Gly411=) c.1152C>T (p.Gly384=) n.1536C>T | gnomAD v4 COSMIC |
| X | g.18604209C>A | CA412360274 | CDKL5 | c.1285C>A (p.Pro429Thr) c.1234C>A (p.Pro412Thr) c.1153C>A (p.Pro385Thr) n.1537C>A | |
| X | g.18604209C>G | CA412360277 | CDKL5 | c.1285C>G (p.Pro429Ala) c.1234C>G (p.Pro412Ala) c.1153C>G (p.Pro385Ala) n.1537C>G | |
| X | g.18604209C>T | CA412360275 | CDKL5 | c.1285C>T (p.Pro429Ser) c.1234C>T (p.Pro412Ser) c.1153C>T (p.Pro385Ser) n.1537C>T | gnomAD v4 |
| X | g.18604210C>A | CA412360279 | CDKL5 | c.1286C>A (p.Pro429Gln) c.1235C>A (p.Pro412Gln) c.1154C>A (p.Pro385Gln) n.1538C>A | |
| X | g.18604210C= | CA2417973965 | CDKL5 | c.1286C= (p.Pro429=) c.1235C= (p.Pro412=) c.1154C= (p.Pro385=) n.1538C= | |
| X | g.18604210C>G | CA412360280 | CDKL5 | c.1286C>G (p.Pro429Arg) c.1235C>G (p.Pro412Arg) c.1154C>G (p.Pro385Arg) n.1538C>G | |
| X | g.18604210C>T | CA326987758 | CDKL5 | c.1286C>T (p.Pro429Leu) c.1235C>T (p.Pro412Leu) c.1154C>T (p.Pro385Leu) n.1538C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18604211A>C | CA515627760 | CDKL5 | c.1287A>C (p.Pro429=) c.1236A>C (p.Pro412=) c.1155A>C (p.Pro385=) n.1539A>C | |
| X | g.18604211A>G | CA515627762 | CDKL5 | c.1287A>G (p.Pro429=) c.1236A>G (p.Pro412=) c.1155A>G (p.Pro385=) n.1539A>G | ClinVar dbSNP |
| X | g.18604211A>T | CA515627761 | CDKL5 | c.1287A>T (p.Pro429=) c.1236A>T (p.Pro412=) c.1155A>T (p.Pro385=) n.1539A>T | |
| X | g.18604211dup | CA2740092028 | CDKL5 | c.1287dup (p.Gly430ArgfsTer?) c.1236dup (p.Gly413ArgfsTer?) c.1155dup (p.Gly386ArgfsTer?) n.1539dup | ClinVar |
| X | g.18604212G>A | CA412360284 | CDKL5 | c.1288G>A (p.Gly430Arg) c.1237G>A (p.Gly413Arg) c.1156G>A (p.Gly386Arg) n.1540G>A | ClinVar |
| X | g.18604212G>C | CA412360285 | CDKL5 | c.1288G>C (p.Gly430Arg) c.1237G>C (p.Gly413Arg) c.1156G>C (p.Gly386Arg) n.1540G>C | |
| X | g.18604212G>T | CA412360287 | CDKL5 | c.1288G>T (p.Gly430Trp) c.1237G>T (p.Gly413Trp) c.1156G>T (p.Gly386Trp) n.1540G>T | |
| X | g.18604213G>A | CA412360290 | CDKL5 | c.1289G>A (p.Gly430Glu) c.1238G>A (p.Gly413Glu) c.1157G>A (p.Gly386Glu) n.1541G>A | dbSNP |
| X | g.18604213G>C | CA412360291 | CDKL5 | c.1289G>C (p.Gly430Ala) c.1238G>C (p.Gly413Ala) c.1157G>C (p.Gly386Ala) n.1541G>C | gnomAD v4 |
| X | g.18604213G= | CA2417973972 | CDKL5 | c.1289G= (p.Gly430=) c.1238G= (p.Gly413=) c.1157G= (p.Gly386=) n.1541G= | |
| X | g.18604213G>T | CA412360293 | CDKL5 | c.1289G>T (p.Gly430Val) c.1238G>T (p.Gly413Val) c.1157G>T (p.Gly386Val) n.1541G>T | |
| X | g.18604214G>A | CA515627769 | CDKL5 | c.1290G>A (p.Gly430=) c.1239G>A (p.Gly413=) c.1158G>A (p.Gly386=) n.1542G>A | |
| X | g.18604214G>C | CA515627770 | CDKL5 | c.1290G>C (p.Gly430=) c.1239G>C (p.Gly413=) c.1158G>C (p.Gly386=) n.1542G>C | |
| X | g.18604214G>T | CA515627772 | CDKL5 | c.1290G>T (p.Gly430=) c.1239G>T (p.Gly413=) c.1158G>T (p.Gly386=) n.1542G>T | |
| X | g.18604215A>C | CA412360295 | CDKL5 | c.1291A>C (p.Thr431Pro) c.1240A>C (p.Thr414Pro) c.1159A>C (p.Thr387Pro) n.1543A>C | |
| X | g.18604215A>G | CA412360297 | CDKL5 | c.1291A>G (p.Thr431Ala) c.1240A>G (p.Thr414Ala) c.1159A>G (p.Thr387Ala) n.1543A>G | ClinVar |
| X | g.18604215A>T | CA412360299 | CDKL5 | c.1291A>T (p.Thr431Ser) c.1240A>T (p.Thr414Ser) c.1159A>T (p.Thr387Ser) n.1543A>T | |
| X | g.18604216_18604217del | CA2695231310 | CDKL5 | c.1292_1293del (p.Thr431LysfsTer?) c.1241_1242del (p.Thr414LysfsTer?) c.1160_1161del (p.Thr387LysfsTer?) n.1544_1545del | |
| X | g.18604216C>A | CA412360305 | CDKL5 | c.1292C>A (p.Thr431Lys) c.1241C>A (p.Thr414Lys) c.1160C>A (p.Thr387Lys) n.1544C>A | |
| X | g.18604216C>G | CA412360301 | CDKL5 | c.1292C>G (p.Thr431Arg) c.1241C>G (p.Thr414Arg) c.1160C>G (p.Thr387Arg) n.1544C>G | |
| X | g.18604216C>T | CA412360303 | CDKL5 | c.1292C>T (p.Thr431Ile) c.1241C>T (p.Thr414Ile) c.1160C>T (p.Thr387Ile) n.1544C>T | |
| X | g.18604217A>C | CA515627776 | CDKL5 | c.1293A>C (p.Thr431=) c.1242A>C (p.Thr414=) c.1161A>C (p.Thr387=) n.1545A>C | |
| X | g.18604217A>G | CA515627778 | CDKL5 | c.1293A>G (p.Thr431=) c.1242A>G (p.Thr414=) c.1161A>G (p.Thr387=) n.1545A>G | |
| X | g.18604217A>T | CA515627780 | CDKL5 | c.1293A>T (p.Thr431=) c.1242A>T (p.Thr414=) c.1161A>T (p.Thr387=) n.1545A>T | |
| X | g.18604219del | CA2695231311 | CDKL5 | c.1295del (p.Lys432SerfsTer?) c.1244del (p.Lys415SerfsTer?) c.1163del (p.Lys388SerfsTer?) n.1547del | |
| X | g.18604218A= | CA2417973978 | CDKL5 | c.1294A= (p.Lys432=) c.1243A= (p.Lys415=) c.1162A= (p.Lys388=) n.1546A= | |
| X | g.18604218A>C | CA412360307 | CDKL5 | c.1294A>C (p.Lys432Gln) c.1243A>C (p.Lys415Gln) c.1162A>C (p.Lys388Gln) n.1546A>C | |
| X | g.18604218A>G | CA412360308 | CDKL5 | c.1294A>G (p.Lys432Glu) c.1243A>G (p.Lys415Glu) c.1162A>G (p.Lys388Glu) n.1546A>G | dbSNP gnomAD v4 |
| X | g.18604218A>T | CA412360310 | CDKL5 | c.1294A>T (p.Lys432Ter) c.1243A>T (p.Lys415Ter) c.1162A>T (p.Lys388Ter) n.1546A>T | |
| X | g.18604218_18604221delinsAAGT | CA2417973977 | CDKL5 | c.1294_1297delinsAAGT (p.Lys432=) c.1243_1246delinsAAGT (p.Lys415=) c.1162_1165delinsAAGT (p.Lys388=) n.1546_1549delinsAAGT | |
| X | g.18604219A>C | CA412360312 | CDKL5 | c.1295A>C (p.Lys432Thr) c.1244A>C (p.Lys415Thr) c.1163A>C (p.Lys388Thr) n.1547A>C | |
| X | g.18604219A>G | CA412360313 | CDKL5 | c.1295A>G (p.Lys432Arg) c.1244A>G (p.Lys415Arg) c.1163A>G (p.Lys388Arg) n.1547A>G | |
| X | g.18604219A>T | CA412360316 | CDKL5 | c.1295A>T (p.Lys432Met) c.1244A>T (p.Lys415Met) c.1163A>T (p.Lys388Met) n.1547A>T | |
| X | g.18604220_18604222del | CA645373290 | CDKL5 | c.1296_1298del (p.Lys432_Tyr433delinsAsn) c.1245_1247del (p.Lys415_Tyr416delinsAsn) c.1164_1166del (p.Lys388_Tyr389delinsAsn) n.1548_1550del | ClinVar dbSNP |
| X | g.18604220G>A | CA515627783 | CDKL5 | c.1296G>A (p.Lys432=) c.1245G>A (p.Lys415=) c.1164G>A (p.Lys388=) n.1548G>A | |
| X | g.18604220G>C | CA412360318 | CDKL5 | c.1296G>C (p.Lys432Asn) c.1245G>C (p.Lys415Asn) c.1164G>C (p.Lys388Asn) n.1548G>C | |
| X | g.18604220G>T | CA412360319 | CDKL5 | c.1296G>T (p.Lys432Asn) c.1245G>T (p.Lys415Asn) c.1164G>T (p.Lys388Asn) n.1548G>T | |
| X | g.18604221T>A | CA412360320 | CDKL5 | c.1297T>A (p.Tyr433Asn) c.1246T>A (p.Tyr416Asn) c.1165T>A (p.Tyr389Asn) n.1549T>A | |
| X | g.18604221T>C | CA10360371 | CDKL5 | c.1297T>C (p.Tyr433His) c.1246T>C (p.Tyr416His) c.1165T>C (p.Tyr389His) n.1549T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18604221T>G | CA412360323 | CDKL5 | c.1297T>G (p.Tyr433Asp) c.1246T>G (p.Tyr416Asp) c.1165T>G (p.Tyr389Asp) n.1549T>G | |
| X | g.18604221T= | CA2417973985 | CDKL5 | c.1297T= (p.Tyr433=) c.1246T= (p.Tyr416=) c.1165T= (p.Tyr389=) n.1549T= | |
| X | g.18604222A>C | CA412360330 | CDKL5 | c.1298A>C (p.Tyr433Ser) c.1247A>C (p.Tyr416Ser) c.1166A>C (p.Tyr389Ser) n.1550A>C | |
| X | g.18604222A>G | CA412360327 | CDKL5 | c.1298A>G (p.Tyr433Cys) c.1247A>G (p.Tyr416Cys) c.1166A>G (p.Tyr389Cys) n.1550A>G | |
| X | g.18604222A>T | CA412360325 | CDKL5 | c.1298A>T (p.Tyr433Phe) c.1247A>T (p.Tyr416Phe) c.1166A>T (p.Tyr389Phe) n.1550A>T | COSMIC |
| X | g.18604223C>A | CA412360332 | CDKL5 | c.1299C>A (p.Tyr433Ter) c.1248C>A (p.Tyr416Ter) c.1167C>A (p.Tyr389Ter) n.1551C>A | |
| X | g.18604223C>G | CA412360334 | CDKL5 | c.1299C>G (p.Tyr433Ter) c.1248C>G (p.Tyr416Ter) c.1167C>G (p.Tyr389Ter) n.1551C>G | |
| X | g.18604223C>T | CA515627792 | CDKL5 | c.1299C>T (p.Tyr433=) c.1248C>T (p.Tyr416=) c.1167C>T (p.Tyr389=) n.1551C>T | gnomAD v4 |
| X | g.18604224C>A | CA412360336 | CDKL5 | c.1300C>A (p.Leu434Ile) c.1249C>A (p.Leu417Ile) c.1168C>A (p.Leu390Ile) n.1552C>A | |
| X | g.18604224C>G | CA412360337 | CDKL5 | c.1300C>G (p.Leu434Val) c.1249C>G (p.Leu417Val) c.1168C>G (p.Leu390Val) n.1552C>G | |
| X | g.18604224C>T | CA412360339 | CDKL5 | c.1300C>T (p.Leu434Phe) c.1249C>T (p.Leu417Phe) c.1168C>T (p.Leu390Phe) n.1552C>T | ClinVar |
| X | g.18604225T>A | CA412360342 | CDKL5 | c.1301T>A (p.Leu434His) c.1250T>A (p.Leu417His) c.1169T>A (p.Leu390His) n.1553T>A | |
| X | g.18604225T>C | CA412360344 | CDKL5 | c.1301T>C (p.Leu434Pro) c.1250T>C (p.Leu417Pro) c.1169T>C (p.Leu390Pro) n.1553T>C | |
| X | g.18604225T>G | CA412360346 | CDKL5 | c.1301T>G (p.Leu434Arg) c.1250T>G (p.Leu417Arg) c.1169T>G (p.Leu390Arg) n.1553T>G | |
| X | g.18604226C>A | CA515627797 | CDKL5 | c.1302C>A (p.Leu434=) c.1251C>A (p.Leu417=) c.1170C>A (p.Leu390=) n.1554C>A | dbSNP |
| X | g.18604226C>G | CA515627798 | CDKL5 | c.1302C>G (p.Leu434=) c.1251C>G (p.Leu417=) c.1170C>G (p.Leu390=) n.1554C>G | |
| X | g.18604226C>T | CA515627796 | CDKL5 | c.1302C>T (p.Leu434=) c.1251C>T (p.Leu417=) c.1170C>T (p.Leu390=) n.1554C>T | |
| X | g.18604227A>C | CA412360348 | CDKL5 | c.1303A>C (p.Lys435Gln) c.1252A>C (p.Lys418Gln) c.1171A>C (p.Lys391Gln) n.1555A>C | |
| X | g.18604227A>G | CA412360350 | CDKL5 | c.1303A>G (p.Lys435Glu) c.1252A>G (p.Lys418Glu) c.1171A>G (p.Lys391Glu) n.1555A>G | |
| X | g.18604227A>T | CA412360352 | CDKL5 | c.1303A>T (p.Lys435Ter) c.1252A>T (p.Lys418Ter) c.1171A>T (p.Lys391Ter) n.1555A>T | |
| X | g.18604228A= | CA2417973988 | CDKL5 | c.1304A= (p.Lys435=) c.1253A= (p.Lys418=) c.1172A= (p.Lys391=) n.1556A= | |
| X | g.18604228A>C | CA10360372 | CDKL5 | c.1304A>C (p.Lys435Thr) c.1253A>C (p.Lys418Thr) c.1172A>C (p.Lys391Thr) n.1556A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18604228A>G | CA412360354 | CDKL5 | c.1304A>G (p.Lys435Arg) c.1253A>G (p.Lys418Arg) c.1172A>G (p.Lys391Arg) n.1556A>G | |
| X | g.18604228A>T | CA412360356 | CDKL5 | c.1304A>T (p.Lys435Met) c.1253A>T (p.Lys418Met) c.1172A>T (p.Lys391Met) n.1556A>T | |
| X | g.18604229G>A | CA515627803 | CDKL5 | c.1305G>A (p.Lys435=) c.1254G>A (p.Lys418=) c.1173G>A (p.Lys391=) n.1557G>A | |
| X | g.18604229G>C | CA412360358 | CDKL5 | c.1305G>C (p.Lys435Asn) c.1254G>C (p.Lys418Asn) c.1173G>C (p.Lys391Asn) n.1557G>C | |
| X | g.18604229G>T | CA412360360 | CDKL5 | c.1305G>T (p.Lys435Asn) c.1254G>T (p.Lys418Asn) c.1173G>T (p.Lys391Asn) n.1557G>T | |
| X | g.18604230T>A | CA412360362 | CDKL5 | c.1306T>A (p.Ser436Thr) c.1255T>A (p.Ser419Thr) c.1174T>A (p.Ser392Thr) n.1558T>A | |
| X | g.18604230T>C | CA412360364 | CDKL5 | c.1306T>C (p.Ser436Pro) c.1255T>C (p.Ser419Pro) c.1174T>C (p.Ser392Pro) n.1558T>C | |
| X | g.18604230T>G | CA412360366 | CDKL5 | c.1306T>G (p.Ser436Ala) c.1255T>G (p.Ser419Ala) c.1174T>G (p.Ser392Ala) n.1558T>G | |
| X | g.18604231C>A | CA412360368 | CDKL5 | c.1307C>A (p.Ser436Ter) c.1256C>A (p.Ser419Ter) c.1175C>A (p.Ser392Ter) n.1559C>A | |
| X | g.18604231C>G | CA412360369 | CDKL5 | c.1307C>G (p.Ser436Ter) c.1256C>G (p.Ser419Ter) c.1175C>G (p.Ser392Ter) n.1559C>G | |
| X | g.18604231C>T | CA412360371 | CDKL5 | c.1307C>T (p.Ser436Leu) c.1256C>T (p.Ser419Leu) c.1175C>T (p.Ser392Leu) n.1559C>T | |
| X | g.18604232A>C | CA515627810 | CDKL5 | c.1308A>C (p.Ser436=) c.1257A>C (p.Ser419=) c.1176A>C (p.Ser392=) n.1560A>C | |
| X | g.18604232A>G | CA515627808 | CDKL5 | c.1308A>G (p.Ser436=) c.1257A>G (p.Ser419=) c.1176A>G (p.Ser392=) n.1560A>G | |
| X | g.18604232A>T | CA515627809 | CDKL5 | c.1308A>T (p.Ser436=) c.1257A>T (p.Ser419=) c.1176A>T (p.Ser392=) n.1560A>T | |
| X | g.18604233A>C | CA412360373 | CDKL5 | c.1309A>C (p.Asn437His) c.1258A>C (p.Asn420His) c.1177A>C (p.Asn393His) n.1561A>C | |
| X | g.18604233A>G | CA412360374 | CDKL5 | c.1309A>G (p.Asn437Asp) c.1258A>G (p.Asn420Asp) c.1177A>G (p.Asn393Asp) n.1561A>G | |
| X | g.18604233A>T | CA412360375 | CDKL5 | c.1309A>T (p.Asn437Tyr) c.1258A>T (p.Asn420Tyr) c.1177A>T (p.Asn393Tyr) n.1561A>T | |
| X | g.18604234A= | CA2417973992 | CDKL5 | c.1310A= (p.Asn437=) c.1259A= (p.Asn420=) c.1178A= (p.Asn393=) n.1562A= | |
| X | g.18604234A>C | CA412360378 | CDKL5 | c.1310A>C (p.Asn437Thr) c.1259A>C (p.Asn420Thr) c.1178A>C (p.Asn393Thr) n.1562A>C | |
| X | g.18604234A>G | CA412360379 | CDKL5 | c.1310A>G (p.Asn437Ser) c.1259A>G (p.Asn420Ser) c.1178A>G (p.Asn393Ser) n.1562A>G | |
| X | g.18604234A>T | CA412360381 | CDKL5 | c.1310A>T (p.Asn437Ile) c.1259A>T (p.Asn420Ile) c.1178A>T (p.Asn393Ile) n.1562A>T | |
| X | g.18604235C>A | CA412360385 | CDKL5 | c.1311C>A (p.Asn437Lys) c.1260C>A (p.Asn420Lys) c.1179C>A (p.Asn393Lys) n.1563C>A | |
| X | g.18604235C>G | CA412360383 | CDKL5 | c.1311C>G (p.Asn437Lys) c.1260C>G (p.Asn420Lys) c.1179C>G (p.Asn393Lys) n.1563C>G | |
| X | g.18604235C>T | CA515627813 | CDKL5 | c.1311C>T (p.Asn437=) c.1260C>T (p.Asn420=) c.1179C>T (p.Asn393=) n.1563C>T | ClinVar gnomAD v4 |
| X | g.18604235_18604236insCCCAACCAAACACACCC | CA2819902092 | CDKL5 | c.1311_1312insCCCAACCAAACACACCC (p.Ser438ProfsTer?) c.1260_1261insCCCAACCAAACACACCC (p.Ser421ProfsTer?) c.1179_1180insCCCAACCAAACACACCC (p.Ser394ProfsTer?) n.1563_1564insCCCAACCAAACACACCC | |
| X | g.18604235dup | CA170444 | CDKL5 | c.1311dup (p.Ser438GlnfsTer25) c.1260dup (p.Ser421GlnfsTer25) c.1179dup (p.Ser394GlnfsTer25) n.1563dup | ClinVar dbSNP |
| X | g.18604238_18604240del | CA2693222669 | CDKL5 | c.1314_1316del (p.Ser438del) c.1263_1265del (p.Ser421del) c.1182_1184del (p.Ser394del) n.1566_1568del | gnomAD v4 |
| X | g.18604236A= | CA2417973998 | CDKL5 | c.1312A= (p.Ser438=) c.1261A= (p.Ser421=) c.1180A= (p.Ser394=) n.1564A= | |
| X | g.18604236A>C | CA412360387 | CDKL5 | c.1312A>C (p.Ser438Arg) c.1261A>C (p.Ser421Arg) c.1180A>C (p.Ser394Arg) n.1564A>C | |
| X | g.18604236A>G | CA412360389 | CDKL5 | c.1312A>G (p.Ser438Gly) c.1261A>G (p.Ser421Gly) c.1180A>G (p.Ser394Gly) n.1564A>G | dbSNP |
| X | g.18604236A>T | CA412360388 | CDKL5 | c.1312A>T (p.Ser438Cys) c.1261A>T (p.Ser421Cys) c.1180A>T (p.Ser394Cys) n.1564A>T | |
| X | g.18604237G>A | CA412360392 | CDKL5 | c.1313G>A (p.Ser438Asn) c.1262G>A (p.Ser421Asn) c.1181G>A (p.Ser394Asn) n.1565G>A | COSMIC |
| X | g.18604237G>C | CA412360396 | CDKL5 | c.1313G>C (p.Ser438Thr) c.1262G>C (p.Ser421Thr) c.1181G>C (p.Ser394Thr) n.1565G>C | |
| X | g.18604237G>T | CA412360394 | CDKL5 | c.1313G>T (p.Ser438Ile) c.1262G>T (p.Ser421Ile) c.1181G>T (p.Ser394Ile) n.1565G>T | |
| X | g.18604238C>A | CA412360398 | CDKL5 | c.1314C>A (p.Ser438Arg) c.1263C>A (p.Ser421Arg) c.1182C>A (p.Ser394Arg) n.1566C>A | ClinVar |
| X | g.18604238C>G | CA412360399 | CDKL5 | c.1314C>G (p.Ser438Arg) c.1263C>G (p.Ser421Arg) c.1182C>G (p.Ser394Arg) n.1566C>G | |
| X | g.18604238C>T | CA515627815 | CDKL5 | c.1314C>T (p.Ser438=) c.1263C>T (p.Ser421=) c.1182C>T (p.Ser394=) n.1566C>T | |
| X | g.18604239A>C | CA515627633 | CDKL5 | c.1315A>C (p.Arg439=) c.1264A>C (p.Arg422=) c.1183A>C (p.Arg395=) n.1567A>C | |
| X | g.18604239A>G | CA412360401 | CDKL5 | c.1315A>G (p.Arg439Gly) c.1264A>G (p.Arg422Gly) c.1183A>G (p.Arg395Gly) n.1567A>G | |
| X | g.18604239A>T | CA412360402 | CDKL5 | c.1315A>T (p.Arg439Ter) c.1264A>T (p.Arg422Ter) c.1183A>T (p.Arg395Ter) n.1567A>T | |
| X | g.18604240G>A | CA412360404 | CDKL5 | c.1316G>A (p.Arg439Lys) c.1265G>A (p.Arg422Lys) c.1184G>A (p.Arg395Lys) n.1568G>A | |
| X | g.18604240G>C | CA412360405 | CDKL5 | c.1316G>C (p.Arg439Thr) c.1265G>C (p.Arg422Thr) c.1184G>C (p.Arg395Thr) n.1568G>C | |
| X | g.18604240G>T | CA412360406 | CDKL5 | c.1316G>T (p.Arg439Ile) c.1265G>T (p.Arg422Ile) c.1184G>T (p.Arg395Ile) n.1568G>T | |
| X | g.18604241A>C | CA412360409 | CDKL5 | c.1317A>C (p.Arg439Ser) c.1266A>C (p.Arg422Ser) c.1185A>C (p.Arg395Ser) n.1569A>C | |
| X | g.18604241A>G | CA515627644 | CDKL5 | c.1317A>G (p.Arg439=) c.1266A>G (p.Arg422=) c.1185A>G (p.Arg395=) n.1569A>G | ClinVar dbSNP |
| X | g.18604241A>T | CA412360407 | CDKL5 | c.1317A>T (p.Arg439Ser) c.1266A>T (p.Arg422Ser) c.1185A>T (p.Arg395Ser) n.1569A>T | |
| X | g.18604242T>A | CA412360410 | CDKL5 | c.1318T>A (p.Ser440Thr) c.1267T>A (p.Ser423Thr) c.1186T>A (p.Ser396Thr) n.1570T>A | |
| X | g.18604242T>C | CA412360412 | CDKL5 | c.1318T>C (p.Ser440Pro) c.1267T>C (p.Ser423Pro) c.1186T>C (p.Ser396Pro) n.1570T>C | |
| X | g.18604242T>G | CA412360413 | CDKL5 | c.1318T>G (p.Ser440Ala) c.1267T>G (p.Ser423Ala) c.1186T>G (p.Ser396Ala) n.1570T>G | |
| X | g.18604243C>A | CA412360414 | CDKL5 | c.1319C>A (p.Ser440Tyr) c.1268C>A (p.Ser423Tyr) c.1187C>A (p.Ser396Tyr) n.1571C>A | |
| X | g.18604243C>G | CA412360415 | CDKL5 | c.1319C>G (p.Ser440Cys) c.1268C>G (p.Ser423Cys) c.1187C>G (p.Ser396Cys) n.1571C>G | |
| X | g.18604243C>T | CA412360417 | CDKL5 | c.1319C>T (p.Ser440Phe) c.1268C>T (p.Ser423Phe) c.1187C>T (p.Ser396Phe) n.1571C>T | |
| X | g.18604244T>A | CA515627654 | CDKL5 | c.1320T>A (p.Ser440=) c.1269T>A (p.Ser423=) c.1188T>A (p.Ser396=) n.1572T>A | |
| X | g.18604244T>C | CA515627655 | CDKL5 | c.1320T>C (p.Ser440=) c.1269T>C (p.Ser423=) c.1188T>C (p.Ser396=) n.1572T>C | dbSNP gnomAD v2 |
| X | g.18604244T>G | CA515627656 | CDKL5 | c.1320T>G (p.Ser440=) c.1269T>G (p.Ser423=) c.1188T>G (p.Ser396=) n.1572T>G | |
| X | g.18604244T= | CA2417974001 | CDKL5 | c.1320T= (p.Ser440=) c.1269T= (p.Ser423=) c.1188T= (p.Ser396=) n.1572T= | |
| X | g.18604245C>A | CA412360421 | CDKL5 | c.1321C>A (p.Gln441Lys) c.1270C>A (p.Gln424Lys) c.1189C>A (p.Gln397Lys) n.1573C>A | |
| X | g.18604245C>G | CA412360419 | CDKL5 | c.1321C>G (p.Gln441Glu) c.1270C>G (p.Gln424Glu) c.1189C>G (p.Gln397Glu) n.1573C>G | |
| X | g.18604245C>T | CA412360420 | CDKL5 | c.1321C>T (p.Gln441Ter) c.1270C>T (p.Gln424Ter) c.1189C>T (p.Gln397Ter) n.1573C>T | ClinVar |
| X | g.18604246A>C | CA412360423 | CDKL5 | c.1322A>C (p.Gln441Pro) c.1271A>C (p.Gln424Pro) c.1190A>C (p.Gln397Pro) n.1574A>C | |
| X | g.18604246A>G | CA412360425 | CDKL5 | c.1322A>G (p.Gln441Arg) c.1271A>G (p.Gln424Arg) c.1190A>G (p.Gln397Arg) n.1574A>G | |
| X | g.18604246A>T | CA412360426 | CDKL5 | c.1322A>T (p.Gln441Leu) c.1271A>T (p.Gln424Leu) c.1190A>T (p.Gln397Leu) n.1574A>T | |
| X | g.18604247G>A | CA515627660 | CDKL5 | c.1323G>A (p.Gln441=) c.1272G>A (p.Gln424=) c.1191G>A (p.Gln397=) n.1575G>A | |
| X | g.18604247G>C | CA412360428 | CDKL5 | c.1323G>C (p.Gln441His) c.1272G>C (p.Gln424His) c.1191G>C (p.Gln397His) n.1575G>C | |
| X | g.18604247G>T | CA412360430 | CDKL5 | c.1323G>T (p.Gln441His) c.1272G>T (p.Gln424His) c.1191G>T (p.Gln397His) n.1575G>T | |
| X | g.18604248C>A | CA412360432 | CDKL5 | c.1324C>A (p.Gln442Lys) c.1273C>A (p.Gln425Lys) c.1192C>A (p.Gln398Lys) n.1576C>A | |
| X | g.18604248C= | CA2417974005 | CDKL5 | c.1324C= (p.Gln442=) c.1273C= (p.Gln425=) c.1192C= (p.Gln398=) n.1576C= | |
| X | g.18604248C>G | CA412360434 | CDKL5 | c.1324C>G (p.Gln442Glu) c.1273C>G (p.Gln425Glu) c.1192C>G (p.Gln398Glu) n.1576C>G | |
| X | g.18604248C>T | CA294749 | CDKL5 | c.1324C>T (p.Gln442Ter) c.1273C>T (p.Gln425Ter) c.1192C>T (p.Gln398Ter) n.1576C>T | ClinVar dbSNP |
| X | g.18604249A>C | CA412360435 | CDKL5 | c.1325A>C (p.Gln442Pro) c.1274A>C (p.Gln425Pro) c.1193A>C (p.Gln398Pro) n.1577A>C | |
| X | g.18604249A>G | CA412360437 | CDKL5 | c.1325A>G (p.Gln442Arg) c.1274A>G (p.Gln425Arg) c.1193A>G (p.Gln398Arg) n.1577A>G | |
| X | g.18604249A>T | CA412360438 | CDKL5 | c.1325A>T (p.Gln442Leu) c.1274A>T (p.Gln425Leu) c.1193A>T (p.Gln398Leu) n.1577A>T | |
| X | g.18604250G>A | CA515627666 | CDKL5 | c.1326G>A (p.Gln442=) c.1275G>A (p.Gln425=) c.1194G>A (p.Gln398=) n.1578G>A | |
| X | g.18604250G>C | CA412360441 | CDKL5 | c.1326G>C (p.Gln442His) c.1275G>C (p.Gln425His) c.1194G>C (p.Gln398His) n.1578G>C | |
| X | g.18604250G>T | CA412360442 | CDKL5 | c.1326G>T (p.Gln442His) c.1275G>T (p.Gln425His) c.1194G>T (p.Gln398His) n.1578G>T | |
| X | g.18604250_18604251insT | CA2695231314 | CDKL5 | c.1326_1327insT (p.Asn443Ter) c.1275_1276insT (p.Asn426Ter) c.1194_1195insT (p.Asn399Ter) n.1578_1579insT | |
| X | g.18604251A>C | CA412360444 | CDKL5 | c.1327A>C (p.Asn443His) c.1276A>C (p.Asn426His) c.1195A>C (p.Asn399His) n.1579A>C | |
| X | g.18604251A>G | CA412360447 | CDKL5 | c.1327A>G (p.Asn443Asp) c.1276A>G (p.Asn426Asp) c.1195A>G (p.Asn399Asp) n.1579A>G | |
| X | g.18604251A>T | CA412360445 | CDKL5 | c.1327A>T (p.Asn443Tyr) c.1276A>T (p.Asn426Tyr) c.1195A>T (p.Asn399Tyr) n.1579A>T | |
| X | g.18604252A= | CA2417974012 | CDKL5 | c.1328A= (p.Asn443=) c.1277A= (p.Asn426=) c.1196A= (p.Asn399=) n.1580A= | |
| X | g.18604252A>C | CA10360373 | CDKL5 | c.1328A>C (p.Asn443Thr) c.1277A>C (p.Asn426Thr) c.1196A>C (p.Asn399Thr) n.1580A>C | dbSNP ExAC gnomAD v2 |
| X | g.18604252A>G | CA412360450 | CDKL5 | c.1328A>G (p.Asn443Ser) c.1277A>G (p.Asn426Ser) c.1196A>G (p.Asn399Ser) n.1580A>G | |
| X | g.18604252A>T | CA412360451 | CDKL5 | c.1328A>T (p.Asn443Ile) c.1277A>T (p.Asn426Ile) c.1196A>T (p.Asn399Ile) n.1580A>T | ClinVar |
| X | g.18604253C>A | CA412360453 | CDKL5 | c.1329C>A (p.Asn443Lys) c.1278C>A (p.Asn426Lys) c.1197C>A (p.Asn399Lys) n.1581C>A | |
| X | g.18604253C>G | CA412360455 | CDKL5 | c.1329C>G (p.Asn443Lys) c.1278C>G (p.Asn426Lys) c.1197C>G (p.Asn399Lys) n.1581C>G | |
| X | g.18604253C>T | CA515627670 | CDKL5 | c.1329C>T (p.Asn443=) c.1278C>T (p.Asn426=) c.1197C>T (p.Asn399=) n.1581C>T | gnomAD v4 |
| X | g.18604255_18604257dup | CA2693222670 | CDKL5 | c.1331_1333dup (p.Arg444_His445insArg) c.1280_1282dup (p.Arg427_His428insArg) c.1199_1201dup (p.Arg400_His401insArg) n.1583_1585dup | gnomAD v4 |
| X | g.18604254C>A | CA412360457 | CDKL5 | c.1330C>A (p.Arg444Ser) c.1279C>A (p.Arg427Ser) c.1198C>A (p.Arg400Ser) n.1582C>A | |
| X | g.18604254C= | CA2417974016 | CDKL5 | c.1330C= (p.Arg444=) c.1279C= (p.Arg427=) c.1198C= (p.Arg400=) n.1582C= | |
| X | g.18604254C>G | CA412360458 | CDKL5 | c.1330C>G (p.Arg444Gly) c.1279C>G (p.Arg427Gly) c.1198C>G (p.Arg400Gly) n.1582C>G | |
| X | g.18604254C>T | CA171608 | CDKL5 | c.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 |
| X | g.18604254_18604266del | CA2740092029 | CDKL5 | c.1330_1342del (p.Arg444TrpfsTer?) c.1279_1291del (p.Arg427TrpfsTer?) c.1198_1210del (p.Arg400TrpfsTer?) n.1582_1594del | ClinVar |
| X | g.18604255G>A | CA326987768 | CDKL5 | c.1331G>A (p.Arg444His) c.1280G>A (p.Arg427His) c.1199G>A (p.Arg400His) n.1583G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.18604255G>C | CA412360462 | CDKL5 | c.1331G>C (p.Arg444Pro) c.1280G>C (p.Arg427Pro) c.1199G>C (p.Arg400Pro) n.1583G>C | |
| X | g.18604255G= | CA2417974023 | CDKL5 | c.1331G= (p.Arg444=) c.1280G= (p.Arg427=) c.1199G= (p.Arg400=) n.1583G= | |
| X | g.18604255G>T | CA412360463 | CDKL5 | c.1331G>T (p.Arg444Leu) c.1280G>T (p.Arg427Leu) c.1199G>T (p.Arg400Leu) n.1583G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18604256C>A | CA515627674 | CDKL5 | c.1332C>A (p.Arg444=) c.1281C>A (p.Arg427=) c.1200C>A (p.Arg400=) n.1584C>A | |
| X | g.18604256C= | CA2417974027 | CDKL5 | c.1332C= (p.Arg444=) c.1281C= (p.Arg427=) c.1200C= (p.Arg400=) n.1584C= | |
| X | g.18604256C>G | CA515627676 | CDKL5 | c.1332C>G (p.Arg444=) c.1281C>G (p.Arg427=) c.1200C>G (p.Arg400=) n.1584C>G | gnomAD v4 |
| X | g.18604256C>T | CA200937 | CDKL5 | c.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 |
| X | g.18604257C>A | CA412360468 | CDKL5 | c.1333C>A (p.His445Asn) c.1282C>A (p.His428Asn) c.1201C>A (p.His401Asn) n.1585C>A | |
| X | g.18604257C>G | CA412360467 | CDKL5 | c.1333C>G (p.His445Asp) c.1282C>G (p.His428Asp) c.1201C>G (p.His401Asp) n.1585C>G | |
| X | g.18604257C>T | CA412360466 | CDKL5 | c.1333C>T (p.His445Tyr) c.1282C>T (p.His428Tyr) c.1201C>T (p.His401Tyr) n.1585C>T | gnomAD v4 |
| X | g.18604258A>C | CA412360471 | CDKL5 | c.1334A>C (p.His445Pro) c.1283A>C (p.His428Pro) c.1202A>C (p.His401Pro) n.1586A>C | |
| X | g.18604258A>G | CA412360474 | CDKL5 | c.1334A>G (p.His445Arg) c.1283A>G (p.His428Arg) c.1202A>G (p.His401Arg) n.1586A>G | |
| X | g.18604258A>T | CA412360475 | CDKL5 | c.1334A>T (p.His445Leu) c.1283A>T (p.His428Leu) c.1202A>T (p.His401Leu) n.1586A>T | |
| X | g.18604258_18604259insAACACACCCAA | CA2819902109 | CDKL5 | c.1334_1335insAACACACCCAA (p.His445GlnfsTer?) c.1283_1284insAACACACCCAA (p.His428GlnfsTer?) c.1202_1203insAACACACCCAA (p.His401GlnfsTer?) n.1586_1587insAACACACCCAA | |
| X | g.18604259_18604260insCAAACACACCCAAC | CA2819902110 | CDKL5 | c.1335_1336insCAAACACACCCAAC (p.Ser446GlnfsTer?) c.1284_1285insCAAACACACCCAAC (p.Ser429GlnfsTer?) c.1203_1204insCAAACACACCCAAC (p.Ser402GlnfsTer?) n.1587_1588insCAAACACACCCAAC | |
| X | g.18604259C>A | CA412360476 | CDKL5 | c.1335C>A (p.His445Gln) c.1284C>A (p.His428Gln) c.1203C>A (p.His401Gln) n.1587C>A | |
| X | g.18604259C>G | CA412360477 | CDKL5 | c.1335C>G (p.His445Gln) c.1284C>G (p.His428Gln) c.1203C>G (p.His401Gln) n.1587C>G | |
| X | g.18604259C>T | CA515627680 | CDKL5 | c.1335C>T (p.His445=) c.1284C>T (p.His428=) c.1203C>T (p.His401=) n.1587C>T | gnomAD v4 |
| X | g.18604260T>A | CA412360478 | CDKL5 | c.1336T>A (p.Ser446Thr) c.1285T>A (p.Ser429Thr) c.1204T>A (p.Ser402Thr) n.1588T>A | |
| X | g.18604260T>C | CA412360480 | CDKL5 | c.1336T>C (p.Ser446Pro) c.1285T>C (p.Ser429Pro) c.1204T>C (p.Ser402Pro) n.1588T>C | |
| X | g.18604260T>G | CA412360482 | CDKL5 | c.1336T>G (p.Ser446Ala) c.1285T>G (p.Ser429Ala) c.1204T>G (p.Ser402Ala) n.1588T>G | |
| X | g.18604261C>A | CA412360484 | CDKL5 | c.1337C>A (p.Ser446Ter) c.1286C>A (p.Ser429Ter) c.1205C>A (p.Ser402Ter) n.1589C>A | |
| X | g.18604261C= | CA2417974030 | CDKL5 | c.1337C= (p.Ser446=) c.1286C= (p.Ser429=) c.1205C= (p.Ser402=) n.1589C= | |
| X | g.18604261C>G | CA412360485 | CDKL5 | c.1337C>G (p.Ser446Ter) c.1286C>G (p.Ser429Ter) c.1205C>G (p.Ser402Ter) n.1589C>G | |
| X | g.18604261C>T | CA412360487 | CDKL5 | c.1337C>T (p.Ser446Leu) c.1286C>T (p.Ser429Leu) c.1205C>T (p.Ser402Leu) n.1589C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |