| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39056862A>C | CA136140 | SOS1 | n.377T>G n.1188T>G n.115T>G n.357T>G c.450T>G c.350T>G (p.Val117Gly) c.179T>G (p.Val60Gly) c.443T>G (p.Val148Gly) c.329T>G (p.Val110Gly) c.326T>G (p.Val109Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.39056862A= | CA1246155183 | SOS1 | n.377T= n.1188T= n.115T= n.357T= c.450T= c.350T= (p.Val117=) c.179T= (p.Val60=) c.443T= (p.Val148=) c.329T= (p.Val110=) c.326T= (p.Val109=) | dbSNP |