| 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 |
| 16 | g.3738577T>G | CA394564311 | CREBBP | c.4376A>C (p.Glu1459Ala) c.4262A>C (p.Glu1421Ala) c.3011A>C (p.Glu1004Ala) n.216-1762A>C n.3217+1001A>C c.4331A>C (p.Glu1444Ala) c.3959A>C (p.Glu1320Ala) c.4134-1762A>C (n.4134-1762A>C) c.4322A>C (p.Glu1441Ala) c.3623A>C (p.Glu1208Ala) c.4370A>C (p.Glu1457Ala) | dbSNP gnomAD v4 |
| 16 | g.3738577T= | CA2202938883 | CREBBP | c.4376A= (p.Glu1459=) c.4262A= (p.Glu1421=) c.3011A= (p.Glu1004=) n.216-1762A= n.3217+1001A= c.4331A= (p.Glu1444=) c.3959A= (p.Glu1320=) c.4134-1762A= (n.4134-1762A=) c.4322A= (p.Glu1441=) c.3623A= (p.Glu1208=) c.4370A= (p.Glu1457=) | dbSNP |