| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18584312C>G | CA412352405 | CDKL5 | c.513C>G (p.Tyr171Ter) c.381C>G (p.Tyr127Ter) n.765C>G | ClinVar dbSNP |
| X | g.18584312C>T | CA326984734 | CDKL5 | c.513C>T (p.Tyr171=) c.381C>T (p.Tyr127=) n.765C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18584312C>A | CA171644 | CDKL5 | c.513C>A (p.Tyr171Ter) c.381C>A (p.Tyr127Ter) n.765C>A | ClinVar dbSNP |