| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3793446G>A | CA271358 | CREBBP | c.1156C>T (p.Arg386Ter) c.1102C>T (p.Arg368Ter) c.403C>T (p.Arg135Ter) | ClinVar dbSNP |
| 16 | g.3793446G>C | CA394562605 | CREBBP | c.1156C>G (p.Arg386Gly) c.1102C>G (p.Arg368Gly) c.403C>G (p.Arg135Gly) | dbSNP gnomAD v4 |
| 16 | g.3793446G= | CA2202954978 | CREBBP | c.1156C= (p.Arg386=) c.1102C= (p.Arg368=) c.403C= (p.Arg135=) | dbSNP |