| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647231A>G | CA226653 | CDKL5,RS1 | c.286T>C (p.Trp96Arg) c.2797+1141A>G (n.2797+1141A>G) n.777T>C c.2869+1141A>G (n.2869+1141A>G) c.2788+1141A>G (n.2788+1141A>G) n.3172+1141A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18647231A= | CA2417988231 | CDKL5,RS1 | c.286T= (p.Trp96=) c.2797+1141A= (n.2797+1141A=) n.777T= c.2869+1141A= (n.2869+1141A=) c.2788+1141A= (n.2788+1141A=) n.3172+1141A= | dbSNP |