| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39007168C>T | CA261734 | SOS1 | c.1303G>A (p.Glu435Lys) n.2543G>A c.2425G>A (p.Glu809Lys) c.2305G>A (p.Glu769Lys) c.232G>A (p.Glu78Lys) c.*123G>A (n.*123G>A) c.2536G>A (p.Glu846Lys) n.332G>A c.2629G>A (p.Glu877Lys) c.2515G>A (p.Glu839Lys) c.2512G>A (p.Glu838Lys) c.2365G>A (p.Glu789Lys) c.1471G>A (p.Glu491Lys) | ClinVar dbSNP COSMIC |
| 2 | g.39007168C= | CA1246128904 | SOS1 | c.1303G= (p.Glu435=) n.2543G= c.2425G= (p.Glu809=) c.2305G= (p.Glu769=) c.232G= (p.Glu78=) c.*123G= (n.*123G=) c.2536G= (p.Glu846=) n.332G= c.2629G= (p.Glu877=) c.2515G= (p.Glu839=) c.2512G= (p.Glu838=) c.2365G= (p.Glu789=) c.1471G= (p.Glu491=) | dbSNP |