| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39013523A>G | CA273696 | SOS1 | c.871T>C (p.Tyr291His) n.2325T>C n.2111T>C n.193T>C c.1993T>C (p.Tyr665His) c.2104T>C (p.Tyr702His) c.2197T>C (p.Tyr733His) c.2083T>C (p.Tyr695His) c.2080T>C (p.Tyr694His) c.1933T>C (p.Tyr645His) c.1039T>C (p.Tyr347His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.39013523A= | CA1246131886 | SOS1 | c.871T= (p.Tyr291=) n.2325T= n.2111T= n.193T= c.1993T= (p.Tyr665=) c.2104T= (p.Tyr702=) c.2197T= (p.Tyr733=) c.2083T= (p.Tyr695=) c.2080T= (p.Tyr694=) c.1933T= (p.Tyr645=) c.1039T= (p.Tyr347=) | dbSNP |