| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031123dup | CA270507 | MECP2 | c.710dup (p.Gly238TrpfsTer21) c.746dup (p.Gly250TrpfsTer21) c.66-182dup c.*82dup (n.*82dup) c.698dup (p.Gly234TrpfsTer21) c.431dup (p.Gly145TrpfsTer21) c.41dup (p.Gly15TrpfsTer21) | ClinVar dbSNP |
| X | g.154031123del | CA256097 | MECP2 | c.710del (p.Gly237ValfsTer11) c.746del (p.Gly249ValfsTer11) c.66-182del c.*82del (n.*82del) c.698del (p.Gly233ValfsTer11) c.431del (p.Gly144ValfsTer11) c.41del (p.Gly14ValfsTer11) | ClinVar dbSNP COSMIC |