| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39022782G>T | CA297273 | SOS1 | n.1526C>A c.413C>A (p.Thr138Lys) n.1867C>A n.1653C>A c.1535C>A (p.Thr512Lys) c.1646C>A (p.Thr549Lys) c.1739C>A (p.Thr580Lys) c.1625C>A (p.Thr542Lys) c.1622C>A (p.Thr541Lys) c.1475C>A (p.Thr492Lys) c.581C>A (p.Thr194Lys) | ClinVar dbSNP |
| 2 | g.39022782G>A | CA346365695 | SOS1 | n.1526C>T c.413C>T (p.Thr138Ile) n.1867C>T n.1653C>T c.1535C>T (p.Thr512Ile) c.1646C>T (p.Thr549Ile) c.1739C>T (p.Thr580Ile) c.1625C>T (p.Thr542Ile) c.1622C>T (p.Thr541Ile) c.1475C>T (p.Thr492Ile) c.581C>T (p.Thr194Ile) | dbSNP |
| 2 | g.39022782G= | CA1246139517 | SOS1 | n.1526C= c.413C= (p.Thr138=) n.1867C= n.1653C= c.1535C= (p.Thr512=) c.1646C= (p.Thr549=) c.1739C= (p.Thr580=) c.1625C= (p.Thr542=) c.1622C= (p.Thr541=) c.1475C= (p.Thr492=) c.581C= (p.Thr194=) | dbSNP |