Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154031415A>G | CA270407 | MECP2 | c.413T>C (p.Leu138Ser) c.449T>C (p.Leu150Ser) c.46T>C c.*467T>C (n.*467T>C) n.2761T>C c.401T>C (p.Leu134Ser) c.134T>C (p.Leu45Ser) c.-148T>C (n.-148T>C) | ClinVar dbSNP |
X | g.154031415A>T | CA270404 | MECP2 | c.413T>A (p.Leu138Ter) c.449T>A (p.Leu150Ter) c.46T>A c.*467T>A (n.*467T>A) n.2761T>A c.401T>A (p.Leu134Ter) c.134T>A (p.Leu45Ter) c.-148T>A (n.-148T>A) | ClinVar dbSNP |