| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3738577T>C | CA271411 | CREBBP | c.4376A>G (p.Glu1459Gly) c.4262A>G (p.Glu1421Gly) c.3011A>G (p.Glu1004Gly) n.216-1762A>G n.3217+1001A>G c.4331A>G (p.Glu1444Gly) c.3959A>G (p.Glu1320Gly) c.4134-1762A>G (n.4134-1762A>G) c.4322A>G (p.Glu1441Gly) c.3623A>G (p.Glu1208Gly) c.4370A>G (p.Glu1457Gly) | ClinVar dbSNP |
| 16 | g.3738577T>A | CA394564310 | CREBBP | c.4376A>T (p.Glu1459Val) c.4262A>T (p.Glu1421Val) c.3011A>T (p.Glu1004Val) n.216-1762A>T n.3217+1001A>T c.4331A>T (p.Glu1444Val) c.3959A>T (p.Glu1320Val) c.4134-1762A>T (n.4134-1762A>T) c.4322A>T (p.Glu1441Val) c.3623A>T (p.Glu1208Val) c.4370A>T (p.Glu1457Val) | dbSNP |