| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18598499C>T | CA121525 | CDKL5 | c.863C>T (p.Thr288Ile) c.731C>T (p.Thr244Ile) n.1115C>T | ClinVar dbSNP |
| X | g.18598499C>G | CA412355847 | CDKL5 | c.863C>G (p.Thr288Arg) c.731C>G (p.Thr244Arg) n.1115C>G | ClinVar dbSNP |
| X | g.18598499C= | CA2417972579 | CDKL5 | c.863C= (p.Thr288=) c.731C= (p.Thr244=) n.1115C= | dbSNP |