| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3757918T>C | CA271389 | CREBBP | c.3500A>G (p.Tyr1167Cys) c.3386A>G (p.Tyr1129Cys) c.2105A>G (p.Tyr702Cys) c.3455A>G (p.Tyr1152Cys) c.3083A>G (p.Tyr1028Cys) c.3446A>G (p.Tyr1149Cys) c.2747A>G (p.Tyr916Cys) c.3494A>G (p.Tyr1165Cys) | ClinVar dbSNP |
| 16 | g.3757918T= | CA2202943284 | CREBBP | c.3500A= (p.Tyr1167=) c.3386A= (p.Tyr1129=) c.2105A= (p.Tyr702=) c.3455A= (p.Tyr1152=) c.3083A= (p.Tyr1028=) c.3446A= (p.Tyr1149=) c.2747A= (p.Tyr916=) c.3494A= (p.Tyr1165=) | dbSNP |