| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3792054C>G | CA394560775 | CREBBP | c.1257G>C (p.Trp419Cys) c.1216+1332G>C (n.1216+1332G>C) c.1203G>C (p.Trp401Cys) c.504G>C (p.Trp168Cys) | dbSNP |
| 16 | g.3792054C>T | CA271360 | CREBBP | c.1257G>A (p.Trp419Ter) c.1216+1332G>A (n.1216+1332G>A) c.1203G>A (p.Trp401Ter) c.504G>A (p.Trp168Ter) | ClinVar dbSNP |