| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18608882del | CA170466 | CDKL5 | c.2016del (p.Ser673LeufsTer?) c.1965del (p.Ser656LeufsTer?) c.1884del (p.Ser629LeufsTer?) n.2268del | ClinVar dbSNP |
| X | g.18608882dup | CA170467 | CDKL5 | c.2016dup (p.Ser673LeufsTer10) c.1965dup (p.Ser656LeufsTer10) c.1884dup (p.Ser629LeufsTer10) n.2268dup | ClinVar dbSNP |