| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18604701del | CA16621279 | CDKL5 | c.1777del (p.Ser593LeufsTer23) c.1726del (p.Ser576LeufsTer23) c.1645del (p.Ser549LeufsTer23) n.2029del | ClinVar dbSNP |
| X | g.18604700_18604701del | CA16621278 | CDKL5 | c.1776_1777del (p.Ser593LeufsTer17) c.1725_1726del (p.Ser576LeufsTer17) c.1644_1645del (p.Ser549LeufsTer17) n.2028_2029del | ClinVar dbSNP |