| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030612G>A | CA199472 | MECP2 | c.1216C>T (p.Gln406Ter) c.1252C>T (p.Gln418Ter) c.*588C>T (n.*588C>T) c.937C>T (p.Gln313Ter) c.547C>T (p.Gln183Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.154030612G= | CA2466570266 | MECP2 | c.1216C= (p.Gln406=) c.1252C= (p.Gln418=) c.*588C= (n.*588C=) c.937C= (p.Gln313=) c.547C= (p.Gln183=) | dbSNP |