| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3739632A>T | CA394564797 | CREBBP | c.4226T>A (p.Phe1409Tyr) c.4112T>A (p.Phe1371Tyr) c.2861T>A (p.Phe954Tyr) c.532T>A n.215+767T>A n.3163T>A c.4181T>A (p.Phe1394Tyr) c.3809T>A (p.Phe1270Tyr) c.4133+767T>A (n.4133+767T>A) c.4172T>A (p.Phe1391Tyr) c.3473T>A (p.Phe1158Tyr) c.4220T>A (p.Phe1407Tyr) | dbSNP |
| 16 | g.3739632A>G | CA271408 | CREBBP | c.4226T>C (p.Phe1409Ser) c.4112T>C (p.Phe1371Ser) c.2861T>C (p.Phe954Ser) c.532T>C n.215+767T>C n.3163T>C c.4181T>C (p.Phe1394Ser) c.3809T>C (p.Phe1270Ser) c.4133+767T>C (n.4133+767T>C) c.4172T>C (p.Phe1391Ser) c.3473T>C (p.Phe1158Ser) c.4220T>C (p.Phe1407Ser) | ClinVar dbSNP |