| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18581942G>A | CA412351052 | CDKL5 | c.455G>A (p.Cys152Tyr) c.323G>A (p.Cys108Tyr) n.707G>A | ClinVar dbSNP |
| X | g.18581942G>T | CA121515 | CDKL5 | c.455G>T (p.Cys152Phe) c.323G>T (p.Cys108Phe) n.707G>T | ClinVar dbSNP |
| X | g.18581942G= | CA2417967337 | CDKL5 | c.455G= (p.Cys152=) c.323G= (p.Cys108=) n.707G= | dbSNP |