| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39056704T>C | CA235342 | SOS1 | n.535A>G n.1346A>G n.273A>G n.515A>G c.608A>G c.508A>G (p.Lys170Glu) c.601A>G (p.Lys201Glu) c.487A>G (p.Lys163Glu) c.484A>G (p.Lys162Glu) c.337A>G (p.Lys113Glu) | ClinVar dbSNP |
| 2 | g.39056704T>G | CA346373390 | SOS1 | n.535A>C n.1346A>C n.273A>C n.515A>C c.608A>C c.508A>C (p.Lys170Gln) c.601A>C (p.Lys201Gln) c.487A>C (p.Lys163Gln) c.484A>C (p.Lys162Gln) c.337A>C (p.Lys113Gln) | ClinVar dbSNP |
| 2 | g.39056704T= | CA1246155140 | SOS1 | n.535A= n.1346A= n.273A= n.515A= c.608A= c.508A= (p.Lys170=) c.601A= (p.Lys201=) c.487A= (p.Lys163=) c.484A= (p.Lys162=) c.337A= (p.Lys113=) | dbSNP |