Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.39058695T>A | CA346373825 | SOS1 | n.350A>T n.1161A>T n.88A>T n.330A>T c.423A>T c.323A>T (p.Glu108Val) c.152A>T (p.Glu51Val) c.416A>T (p.Glu139Val) c.302A>T (p.Glu101Val) c.299A>T (p.Glu100Val) | ClinVar dbSNP |
2 | g.39058695T>C | CA10602855 | SOS1 | n.350A>G n.1161A>G n.88A>G n.330A>G c.423A>G c.323A>G (p.Glu108Gly) c.152A>G (p.Glu51Gly) c.416A>G (p.Glu139Gly) c.302A>G (p.Glu101Gly) c.299A>G (p.Glu100Gly) | ClinVar dbSNP gnomAD v4 |