| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39023043A>T | CA297267 | SOS1 | n.1265T>A c.152T>A (p.Phe51Tyr) n.1606T>A n.1392T>A c.1274T>A (p.Phe425Tyr) c.1385T>A (p.Phe462Tyr) n.229T>A c.1478T>A (p.Phe493Tyr) c.1364T>A (p.Phe455Tyr) c.1361T>A (p.Phe454Tyr) c.1214T>A (p.Phe405Tyr) c.320T>A (p.Phe107Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.39023043A= | CA1246139974 | SOS1 | n.1265T= c.152T= (p.Phe51=) n.1606T= n.1392T= c.1274T= (p.Phe425=) c.1385T= (p.Phe462=) n.229T= c.1478T= (p.Phe493=) c.1364T= (p.Phe455=) c.1361T= (p.Phe454=) c.1214T= (p.Phe405=) c.320T= (p.Phe107=) | dbSNP |