| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729724A>G | CA16607414 | CREBBP | c.5323T>C (p.Cys1775Arg) c.5209T>C (p.Cys1737Arg) c.5278T>C (p.Cys1760Arg) c.4906T>C (p.Cys1636Arg) c.5062T>C (p.Cys1688Arg) c.5269T>C (p.Cys1757Arg) c.4570T>C (p.Cys1524Arg) c.5317T>C (p.Cys1773Arg) | ClinVar dbSNP |
| 16 | g.3729724A>T | CA394557177 | CREBBP | c.5323T>A (p.Cys1775Ser) c.5209T>A (p.Cys1737Ser) c.5278T>A (p.Cys1760Ser) c.4906T>A (p.Cys1636Ser) c.5062T>A (p.Cys1688Ser) c.5269T>A (p.Cys1757Ser) c.4570T>A (p.Cys1524Ser) c.5317T>A (p.Cys1773Ser) | dbSNP |
| 16 | g.3729724A= | CA2202916509 | CREBBP | c.5323T= (p.Cys1775=) c.5209T= (p.Cys1737=) c.5278T= (p.Cys1760=) c.4906T= (p.Cys1636=) c.5062T= (p.Cys1688=) c.5269T= (p.Cys1757=) c.4570T= (p.Cys1524=) c.5317T= (p.Cys1773=) | dbSNP |