| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18587989T>G | CA16608793 | CDKL5 | c.590T>G (p.Val197Gly) n.304T>G c.458T>G (p.Val153Gly) n.842T>G | ClinVar dbSNP |
| X | g.18587989T= | CA2417969117 | CDKL5 | c.590T= (p.Val197=) n.304T= c.458T= (p.Val153=) n.842T= | dbSNP |