| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39014846T>C | CA16042483 | SOS1 | c.626A>G (p.Asp209Gly) n.2080A>G n.1866A>G c.1748A>G (p.Asp583Gly) c.1859A>G (p.Asp620Gly) c.1952A>G (p.Asp651Gly) c.1838A>G (p.Asp613Gly) c.1835A>G (p.Asp612Gly) c.1688A>G (p.Asp563Gly) c.794A>G (p.Asp265Gly) | ClinVar dbSNP gnomAD v4 |
| 2 | g.39014846T= | CA1246132448 | SOS1 | c.626A= (p.Asp209=) n.2080A= n.1866A= c.1748A= (p.Asp583=) c.1859A= (p.Asp620=) c.1952A= (p.Asp651=) c.1838A= (p.Asp613=) c.1835A= (p.Asp612=) c.1688A= (p.Asp563=) c.794A= (p.Asp265=) | dbSNP |