| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38996981A>G | CA261736 | SOS1 | c.1789T>C (p.Tyr597His) n.3029T>C c.*328T>C (n.*328T>C) c.2791T>C (p.Tyr931His) c.2911T>C (p.Tyr971His) c.718T>C (p.Tyr240His) c.*609T>C (n.*609T>C) c.3022T>C (p.Tyr1008His) c.3115T>C (p.Tyr1039His) c.3001T>C (p.Tyr1001His) c.2998T>C (p.Tyr1000His) c.2851T>C (p.Tyr951His) c.1957T>C (p.Tyr653His) | ClinVar dbSNP |
| 2 | g.38996981A= | CA1246123928 | SOS1 | c.1789T= (p.Tyr597=) n.3029T= c.*328T= (n.*328T=) c.2791T= (p.Tyr931=) c.2911T= (p.Tyr971=) c.718T= (p.Tyr240=) c.*609T= (n.*609T=) c.3022T= (p.Tyr1008=) c.3115T= (p.Tyr1039=) c.3001T= (p.Tyr1001=) c.2998T= (p.Tyr1000=) c.2851T= (p.Tyr951=) c.1957T= (p.Tyr653=) | dbSNP |