| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031020G>C | CA233010 | MECP2 | c.808C>G (p.Arg270Gly) c.844C>G (p.Arg282Gly) c.66-84C>G c.*180C>G (n.*180C>G) c.796C>G (p.Arg266Gly) c.529C>G (p.Arg177Gly) c.139C>G (p.Arg47Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154031020G>A | CA172577 | MECP2 | c.808C>T (p.Arg270Ter) c.844C>T (p.Arg282Ter) c.66-84C>T c.*180C>T (n.*180C>T) c.796C>T (p.Arg266Ter) c.529C>T (p.Arg177Ter) c.139C>T (p.Arg47Ter) | ClinVar dbSNP COSMIC |