| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39013522T>C | CA236034 | SOS1 | c.872A>G (p.Tyr291Cys) n.2326A>G n.2112A>G n.194A>G c.1994A>G (p.Tyr665Cys) c.2105A>G (p.Tyr702Cys) c.2198A>G (p.Tyr733Cys) c.2084A>G (p.Tyr695Cys) c.2081A>G (p.Tyr694Cys) c.1934A>G (p.Tyr645Cys) c.1040A>G (p.Tyr347Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.39013522T>G | CA346364638 | SOS1 | c.872A>C (p.Tyr291Ser) n.2326A>C n.2112A>C n.194A>C c.1994A>C (p.Tyr665Ser) c.2105A>C (p.Tyr702Ser) c.2198A>C (p.Tyr733Ser) c.2084A>C (p.Tyr695Ser) c.2081A>C (p.Tyr694Ser) c.1934A>C (p.Tyr645Ser) c.1040A>C (p.Tyr347Ser) | ClinVar dbSNP |
| 2 | g.39013522T= | CA1246131885 | SOS1 | c.872A= (p.Tyr291=) n.2326A= n.2112A= n.194A= c.1994A= (p.Tyr665=) c.2105A= (p.Tyr702=) c.2198A= (p.Tyr733=) c.2084A= (p.Tyr695=) c.2081A= (p.Tyr694=) c.1934A= (p.Tyr645=) c.1040A= (p.Tyr347=) | dbSNP |