| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.18603930C= | CA2417974352 | CDKL5 | c.1006C= (p.Gln336=) c.955C= (p.Gln319=) c.874C= (p.Gln292=) n.1258C= | dbSNP |