| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18603912_18603934delinsGGCAAAAGTACTGCTTTGCAGTC | CA2417974346 | CDKL5 | c.988_1010delinsGGCAAAAGTACTGCTTTGCAGTC (p.Gly330=) c.937_959delinsGGCAAAAGTACTGCTTTGCAGTC (p.Gly313=) c.856_878delinsGGCAAAAGTACTGCTTTGCAGTC (p.Gly286=) n.1240_1262delinsGGCAAAAGTACTGCTTTGCAGTC | |
| X | g.18603913_18603934del | CA1139667241 | CDKL5 | c.989_1010del (p.Gly330ValfsTer13) c.938_959del (p.Gly313ValfsTer13) c.857_878del (p.Gly286ValfsTer13) n.1241_1262del | ClinVar dbSNP |
| X | g.18603929_18603937delinsGCAGTCTCA | CA2417974351 | CDKL5 | c.1005_1013delinsGCAGTCTCA (p.Leu335=) c.954_962delinsGCAGTCTCA (p.Leu318=) c.873_881delinsGCAGTCTCA (p.Leu291=) n.1257_1265delinsGCAGTCTCA | |
| X | g.18603930C>A | CA412358837 | CDKL5 | c.1006C>A (p.Gln336Lys) c.955C>A (p.Gln319Lys) c.874C>A (p.Gln292Lys) n.1258C>A | |
| X | g.18603930C= | CA2417974352 | CDKL5 | c.1006C= (p.Gln336=) c.955C= (p.Gln319=) c.874C= (p.Gln292=) n.1258C= | |
| X | g.18603930C>G | CA412358840 | CDKL5 | c.1006C>G (p.Gln336Glu) c.955C>G (p.Gln319Glu) c.874C>G (p.Gln292Glu) n.1258C>G | |
| X | g.18603930C>T | CA16043206 | CDKL5 | c.1006C>T (p.Gln336Ter) c.955C>T (p.Gln319Ter) c.874C>T (p.Gln292Ter) n.1258C>T | ClinVar dbSNP COSMIC |
| X | g.18603931_18603938del | CA16621275 | CDKL5 | c.1007_1014del (p.Gln336ProfsTer4) c.956_963del (p.Gln319ProfsTer4) c.875_882del (p.Gln292ProfsTer4) n.1259_1266del | ClinVar dbSNP |
| X | g.18603931A>C | CA412358841 | CDKL5 | c.1007A>C (p.Gln336Pro) c.956A>C (p.Gln319Pro) c.875A>C (p.Gln292Pro) n.1259A>C | |
| X | g.18603931A>G | CA412358842 | CDKL5 | c.1007A>G (p.Gln336Arg) c.956A>G (p.Gln319Arg) c.875A>G (p.Gln292Arg) n.1259A>G | |
| X | g.18603931A>T | CA412358845 | CDKL5 | c.1007A>T (p.Gln336Leu) c.956A>T (p.Gln319Leu) c.875A>T (p.Gln292Leu) n.1259A>T | |
| X | g.18603931_18603932delinsAG | CA2417974354 | CDKL5 | c.1007_1008delinsAG (p.Gln336=) c.956_957delinsAG (p.Gln319=) c.875_876delinsAG (p.Gln292=) n.1259_1260delinsAG | |
| X | g.18603931_18603953delinsAGTCTCACCACAGATCTAACAGC | CA2417974353 | CDKL5 | c.1007_1029delinsAGTCTCACCACAGATCTAACAGC (p.Gln336=) c.956_978delinsAGTCTCACCACAGATCTAACAGC (p.Gln319=) c.875_897delinsAGTCTCACCACAGATCTAACAGC (p.Gln292=) n.1259_1281delinsAGTCTCACCACAGATCTAACAGC | |
| X | g.18603932del | CA1139667242 | CDKL5 | c.1008del (p.Gln336HisfsTer14) c.957del (p.Gln319HisfsTer14) c.876del (p.Gln292HisfsTer14) n.1260del | ClinVar dbSNP |
| X | g.18603932G>A | CA10360335 | CDKL5 | c.1008G>A (p.Gln336=) c.957G>A (p.Gln319=) c.876G>A (p.Gln292=) n.1260G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18603932G>C | CA412358850 | CDKL5 | c.1008G>C (p.Gln336His) c.957G>C (p.Gln319His) c.876G>C (p.Gln292His) n.1260G>C | |
| X | g.18603932G= | CA2417974355 | CDKL5 | c.1008G= (p.Gln336=) c.957G= (p.Gln319=) c.876G= (p.Gln292=) n.1260G= | |
| X | g.18603932G>T | CA412358852 | CDKL5 | c.1008G>T (p.Gln336His) c.957G>T (p.Gln319His) c.876G>T (p.Gln292His) n.1260G>T | |
| X | g.18603932_18603953del | CA199373 | CDKL5 | c.1008_1029del (p.Ser337ArgfsTer6) c.957_978del (p.Ser320ArgfsTer6) c.876_897del (p.Ser293ArgfsTer6) n.1260_1281del | ClinVar dbSNP |
| X | g.18603933T>A | CA412358858 | CDKL5 | c.1009T>A (p.Ser337Thr) c.958T>A (p.Ser320Thr) c.877T>A (p.Ser293Thr) n.1261T>A | |
| X | g.18603933T>C | CA412358860 | CDKL5 | c.1009T>C (p.Ser337Pro) c.958T>C (p.Ser320Pro) c.877T>C (p.Ser293Pro) n.1261T>C | |
| X | g.18603933T>G | CA412358863 | CDKL5 | c.1009T>G (p.Ser337Ala) c.958T>G (p.Ser320Ala) c.877T>G (p.Ser293Ala) n.1261T>G | |
| X | g.18603934C>A | CA412358866 | CDKL5 | c.1010C>A (p.Ser337Tyr) c.959C>A (p.Ser320Tyr) c.878C>A (p.Ser293Tyr) n.1262C>A | |
| X | g.18603934C>G | CA412358867 | CDKL5 | c.1010C>G (p.Ser337Cys) c.959C>G (p.Ser320Cys) c.878C>G (p.Ser293Cys) n.1262C>G | |
| X | g.18603934C>T | CA412358870 | CDKL5 | c.1010C>T (p.Ser337Phe) c.959C>T (p.Ser320Phe) c.878C>T (p.Ser293Phe) n.1262C>T | |
| X | g.18603935T>A | CA515471859 | CDKL5 | c.1011T>A (p.Ser337=) c.960T>A (p.Ser320=) c.879T>A (p.Ser293=) n.1263T>A | |
| X | g.18603935T>C | CA515471861 | CDKL5 | c.1011T>C (p.Ser337=) c.960T>C (p.Ser320=) c.879T>C (p.Ser293=) n.1263T>C | ClinVar gnomAD v4 |
| X | g.18603935T>G | CA515471863 | CDKL5 | c.1011T>G (p.Ser337=) c.960T>G (p.Ser320=) c.879T>G (p.Ser293=) n.1263T>G | |
| X | g.18603935dup | CA2573158472 | CDKL5 | c.1011dup (p.His338SerfsTer5) c.960dup (p.His321SerfsTer5) c.879dup (p.His294SerfsTer5) n.1263dup | ClinVar dbSNP |
| X | g.18603936C>A | CA412358877 | CDKL5 | c.1012C>A (p.His338Asn) c.961C>A (p.His321Asn) c.880C>A (p.His294Asn) n.1264C>A | dbSNP |
| X | g.18603936C= | CA2417974356 | CDKL5 | c.1012C= (p.His338=) c.961C= (p.His321=) c.880C= (p.His294=) n.1264C= | |
| X | g.18603936C>G | CA10360337 | CDKL5 | c.1012C>G (p.His338Asp) c.961C>G (p.His321Asp) c.880C>G (p.His294Asp) n.1264C>G | dbSNP ExAC gnomAD v2 |
| X | g.18603936C>T | CA10360336 | CDKL5 | c.1012C>T (p.His338Tyr) c.961C>T (p.His321Tyr) c.880C>T (p.His294Tyr) n.1264C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18603937A>C | CA412358882 | CDKL5 | c.1013A>C (p.His338Pro) c.962A>C (p.His321Pro) c.881A>C (p.His294Pro) n.1265A>C | |
| X | g.18603937A>G | CA412358885 | CDKL5 | c.1013A>G (p.His338Arg) c.962A>G (p.His321Arg) c.881A>G (p.His294Arg) n.1265A>G | |
| X | g.18603937A>T | CA412358887 | CDKL5 | c.1013A>T (p.His338Leu) c.962A>T (p.His321Leu) c.881A>T (p.His294Leu) n.1265A>T | |
| X | g.18603938C>A | CA412358891 | CDKL5 | c.1014C>A (p.His338Gln) c.963C>A (p.His321Gln) c.882C>A (p.His294Gln) n.1266C>A | |
| X | g.18603938C>G | CA412358893 | CDKL5 | c.1014C>G (p.His338Gln) c.963C>G (p.His321Gln) c.882C>G (p.His294Gln) n.1266C>G | |
| X | g.18603938C>T | CA515471874 | CDKL5 | c.1014C>T (p.His338=) c.963C>T (p.His321=) c.882C>T (p.His294=) n.1266C>T | |
| X | g.18603939C>A | CA412358896 | CDKL5 | c.1015C>A (p.His339Asn) c.964C>A (p.His322Asn) c.883C>A (p.His295Asn) n.1267C>A | |
| X | g.18603939C>G | CA412358899 | CDKL5 | c.1015C>G (p.His339Asp) c.964C>G (p.His322Asp) c.883C>G (p.His295Asp) n.1267C>G | |
| X | g.18603939C>T | CA412358901 | CDKL5 | c.1015C>T (p.His339Tyr) c.964C>T (p.His322Tyr) c.883C>T (p.His295Tyr) n.1267C>T | |
| X | g.18603940A>C | CA412358904 | CDKL5 | c.1016A>C (p.His339Pro) c.965A>C (p.His322Pro) c.884A>C (p.His295Pro) n.1268A>C | |
| X | g.18603940A>G | CA412358907 | CDKL5 | c.1016A>G (p.His339Arg) c.965A>G (p.His322Arg) c.884A>G (p.His295Arg) n.1268A>G | |
| X | g.18603940A>T | CA412358909 | CDKL5 | c.1016A>T (p.His339Leu) c.965A>T (p.His322Leu) c.884A>T (p.His295Leu) n.1268A>T | |
| X | g.18603941C>A | CA412358912 | CDKL5 | c.1017C>A (p.His339Gln) c.966C>A (p.His322Gln) c.885C>A (p.His295Gln) n.1269C>A | |
| X | g.18603941C= | CA2417974357 | CDKL5 | c.1017C= (p.His339=) c.966C= (p.His322=) c.885C= (p.His295=) n.1269C= | |
| X | g.18603941C>G | CA412358915 | CDKL5 | c.1017C>G (p.His339Gln) c.966C>G (p.His322Gln) c.885C>G (p.His295Gln) n.1269C>G | |
| X | g.18603941C>T | CA515471884 | CDKL5 | c.1017C>T (p.His339=) c.966C>T (p.His322=) c.885C>T (p.His295=) n.1269C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18603942A>C | CA515471887 | CDKL5 | c.1018A>C (p.Arg340=) c.967A>C (p.Arg323=) c.886A>C (p.Arg296=) n.1270A>C | gnomAD v4 |