| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39022774T>C | CA235350 | SOS1 | n.1534A>G c.421A>G (p.Arg141Gly) n.1875A>G n.1661A>G c.1543A>G (p.Arg515Gly) c.1654A>G (p.Arg552Gly) c.1747A>G (p.Arg583Gly) c.1633A>G (p.Arg545Gly) c.1630A>G (p.Arg544Gly) c.1483A>G (p.Arg495Gly) c.589A>G (p.Arg197Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.39022774T>A | CA16042455 | SOS1 | n.1534A>T c.421A>T (p.Arg141Trp) n.1875A>T n.1661A>T c.1543A>T (p.Arg515Trp) c.1654A>T (p.Arg552Trp) c.1747A>T (p.Arg583Trp) c.1633A>T (p.Arg545Trp) c.1630A>T (p.Arg544Trp) c.1483A>T (p.Arg495Trp) c.589A>T (p.Arg197Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |