| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18575423T>A | CA170469 | CDKL5 | c.215T>A (p.Ile72Asn) c.83T>A (p.Ile28Asn) n.467T>A | ClinVar dbSNP |
| X | g.18575423T>C | CA121523 | CDKL5 | c.215T>C (p.Ile72Thr) c.83T>C (p.Ile28Thr) n.467T>C | ClinVar dbSNP |
| X | g.18575423T= | CA2417965314 | CDKL5 | c.215T= (p.Ile72=) c.83T= (p.Ile28=) n.467T= | dbSNP |