| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3793502C>A | CA16042987 | CREBBP | c.1100G>T (p.Cys367Phe) c.1046G>T (p.Cys349Phe) c.347G>T (p.Cys116Phe) | ClinVar dbSNP COSMIC |
| 16 | g.3793502C= | CA2202955050 | CREBBP | c.1100G= (p.Cys367=) c.1046G= (p.Cys349=) c.347G= (p.Cys116=) | dbSNP |