| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39012333T>A | CA261731 | SOS1 | c.950A>T (p.Lys317Ile) n.3515A>T n.2190A>T n.272A>T c.2072A>T (p.Lys691Ile) c.934+1127A>T (n.934+1127A>T) c.2183A>T (p.Lys728Ile) c.2276A>T (p.Lys759Ile) c.2162A>T (p.Lys721Ile) c.2159A>T (p.Lys720Ile) c.2012A>T (p.Lys671Ile) c.1118A>T (p.Lys373Ile) | ClinVar dbSNP |
| 2 | g.39012333T>G | CA346364450 | SOS1 | c.950A>C (p.Lys317Thr) n.3515A>C n.2190A>C n.272A>C c.2072A>C (p.Lys691Thr) c.934+1127A>C (n.934+1127A>C) c.2183A>C (p.Lys728Thr) c.2276A>C (p.Lys759Thr) c.2162A>C (p.Lys721Thr) c.2159A>C (p.Lys720Thr) c.2012A>C (p.Lys671Thr) c.1118A>C (p.Lys373Thr) | ClinVar dbSNP |
| 2 | g.39012333T= | CA1246131381 | SOS1 | c.950A= (p.Lys317=) n.3515A= n.2190A= n.272A= c.2072A= (p.Lys691=) c.934+1127A= (n.934+1127A=) c.2183A= (p.Lys728=) c.2276A= (p.Lys759=) c.2162A= (p.Lys721=) c.2159A= (p.Lys720=) c.2012A= (p.Lys671=) c.1118A= (p.Lys373=) | dbSNP |