Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154030710G>T | CA10558504 | MECP2 | c.1118C>A (p.Ser373Ter) c.1154C>A (p.Ser385Ter) c.*490C>A (n.*490C>A) c.839C>A (p.Ser280Ter) c.449C>A (p.Ser150Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154030710G>C | CA232891 | MECP2 | c.1118C>G (p.Ser373Ter) c.1154C>G (p.Ser385Ter) c.*490C>G (n.*490C>G) c.839C>G (p.Ser280Ter) c.449C>G (p.Ser150Ter) | ClinVar dbSNP |