| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031065G>A | CA212520 | MECP2 | c.763C>T (p.Arg255Ter) c.799C>T (p.Arg267Ter) c.66-129C>T c.*135C>T (n.*135C>T) c.751C>T (p.Arg251Ter) c.484C>T (p.Arg162Ter) c.94C>T (p.Arg32Ter) | ClinVar dbSNP |
| X | g.154031065G>C | CA415171766 | MECP2 | c.763C>G (p.Arg255Gly) c.799C>G (p.Arg267Gly) c.66-129C>G c.*135C>G (n.*135C>G) c.751C>G (p.Arg251Gly) c.484C>G (p.Arg162Gly) c.94C>G (p.Arg32Gly) | ClinVar dbSNP |