| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3731244C>A | CA394558207 | CREBBP | c.5120G>T (p.Cys1707Phe) c.7G>T c.5006G>T (p.Cys1669Phe) c.5075G>T (p.Cys1692Phe) c.4703G>T (p.Cys1568Phe) c.4859G>T (p.Cys1620Phe) c.5066G>T (p.Cys1689Phe) c.4367G>T (p.Cys1456Phe) c.5114G>T (p.Cys1705Phe) | dbSNP |
| 16 | g.3731244C>T | CA394558209 | CREBBP | c.5120G>A (p.Cys1707Tyr) c.7G>A c.5006G>A (p.Cys1669Tyr) c.5075G>A (p.Cys1692Tyr) c.4703G>A (p.Cys1568Tyr) c.4859G>A (p.Cys1620Tyr) c.5066G>A (p.Cys1689Tyr) c.4367G>A (p.Cys1456Tyr) c.5114G>A (p.Cys1705Tyr) | dbSNP |
| 16 | g.3731244C>G | CA16620203 | CREBBP | c.5120G>C (p.Cys1707Ser) c.7G>C c.5006G>C (p.Cys1669Ser) c.5075G>C (p.Cys1692Ser) c.4703G>C (p.Cys1568Ser) c.4859G>C (p.Cys1620Ser) c.5066G>C (p.Cys1689Ser) c.4367G>C (p.Cys1456Ser) c.5114G>C (p.Cys1705Ser) | ClinVar dbSNP |