| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031154G>C | CA270500 | MECP2 | c.674C>G (p.Pro225Arg) c.710C>G (p.Pro237Arg) c.66-218C>G c.*46C>G (n.*46C>G) c.662C>G (p.Pro221Arg) c.395C>G (p.Pro132Arg) c.5C>G (p.Pro2Arg) | ClinVar dbSNP |
| X | g.154031154G>A | CA121713 | MECP2 | c.674C>T (p.Pro225Leu) c.710C>T (p.Pro237Leu) c.66-218C>T c.*46C>T (n.*46C>T) c.662C>T (p.Pro221Leu) c.395C>T (p.Pro132Leu) c.5C>T (p.Pro2Leu) | ClinVar dbSNP COSMIC |