| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031405G>A | CA519705681 | MECP2 | c.423C>T (p.Tyr141=) c.459C>T (p.Tyr153=) c.56C>T c.*477C>T (n.*477C>T) n.2771C>T c.411C>T (p.Tyr137=) c.144C>T (p.Tyr48=) c.-138C>T (n.-138C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154031405G>C | CA121710 | MECP2 | c.423C>G (p.Tyr141Ter) c.459C>G (p.Tyr153Ter) c.56C>G c.*477C>G (n.*477C>G) n.2771C>G c.411C>G (p.Tyr137Ter) c.144C>G (p.Tyr48Ter) c.-138C>G (n.-138C>G) | ClinVar dbSNP |
| X | g.154031405G>T | CA337264499 | MECP2 | c.423C>A (p.Tyr141Ter) c.459C>A (p.Tyr153Ter) c.56C>A c.*477C>A (n.*477C>A) n.2771C>A c.411C>A (p.Tyr137Ter) c.144C>A (p.Tyr48Ter) c.-138C>A (n.-138C>A) | ClinVar dbSNP |