| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3792041G>A | CA271362 | CREBBP | c.1270C>T (p.Arg424Ter) c.1216+1345C>T (n.1216+1345C>T) c.1216C>T (p.Arg406Ter) c.517C>T (p.Arg173Ter) | ClinVar dbSNP |
| 16 | g.3792041G= | CA2202953675 | CREBBP | c.1270C= (p.Arg424=) c.1216+1345C= (n.1216+1345C=) c.1216C= (p.Arg406=) c.517C= (p.Arg173=) | dbSNP |