| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030948G>A | CA121700 | MECP2 | c.880C>T (p.Arg294Ter) c.916C>T (p.Arg306Ter) c.66-12C>T c.*252C>T (n.*252C>T) c.866C>T (p.Pro289Leu) c.601C>T (p.Arg201Ter) c.211C>T (p.Arg71Ter) | ClinVar dbSNP |
| X | g.154030948G>C | CA10558539 | MECP2 | c.880C>G (p.Arg294Gly) c.916C>G (p.Arg306Gly) c.66-12C>G c.*252C>G (n.*252C>G) c.866C>G (p.Pro289Arg) c.601C>G (p.Arg201Gly) c.211C>G (p.Arg71Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030948G= | CA2466570756 | MECP2 | c.880C= (p.Arg294=) c.916C= (p.Arg306=) c.66-12C= c.*252C= (n.*252C=) c.866C= (p.Pro289=) c.601C= (p.Arg201=) c.211C= (p.Arg71=) | dbSNP |