| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3850689G>C | CA276987267 | CREBBP | c.406C>G (p.Gln136Glu) c.352C>G (p.Gln118Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3850689G>A | CA254809 | CREBBP | c.406C>T (p.Gln136Ter) c.352C>T (p.Gln118Ter) | ClinVar dbSNP |
| 16 | g.3850689G= | CA2202994158 | CREBBP | c.406C= (p.Gln136=) c.352C= (p.Gln118=) | dbSNP |