| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3850497G>A | CA271434 | CREBBP | c.598C>T (p.Gln200Ter) c.544C>T (p.Gln182Ter) | ClinVar dbSNP COSMIC |
| 16 | g.3850497G>C | CA394560417 | CREBBP | c.598C>G (p.Gln200Glu) c.544C>G (p.Gln182Glu) | dbSNP gnomAD v4 |
| 16 | g.3850497G= | CA2202994052 | CREBBP | c.598C= (p.Gln200=) c.544C= (p.Gln182=) | dbSNP |