| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18584323G>C | CA412352453 | CDKL5 | c.524G>C (p.Arg175Thr) c.392G>C (p.Arg131Thr) n.776G>C | ClinVar dbSNP |
| X | g.18584323G>T | CA16621270 | CDKL5 | c.524G>T (p.Arg175Ile) c.392G>T (p.Arg131Ile) n.776G>T | ClinVar dbSNP |
| X | g.18584323G>A | CA412352455 | CDKL5 | c.524G>A (p.Arg175Lys) c.392G>A (p.Arg131Lys) n.776G>A | ClinVar dbSNP |
| X | g.18584323G= | CA2417968027 | CDKL5 | c.524G= (p.Arg175=) c.392G= (p.Arg131=) n.776G= | dbSNP |