| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18575466C>G | CA412348813 | CDKL5 | c.258C>G (p.Tyr86Ter) c.126C>G (p.Tyr42Ter) n.510C>G | ClinVar dbSNP |
| X | g.18575466C>A | CA412348811 | CDKL5 | c.258C>A (p.Tyr86Ter) c.126C>A (p.Tyr42Ter) n.510C>A | ClinVar dbSNP |
| X | g.18575466C= | CA2417965335 | CDKL5 | c.258C= (p.Tyr86=) c.126C= (p.Tyr42=) n.510C= | dbSNP |