| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39012319T>G | CA1624442 | SOS1 | c.964A>C (p.Ile322Leu) n.3529A>C n.2204A>C n.286A>C c.2086A>C (p.Ile696Leu) c.934+1141A>C (n.934+1141A>C) c.2197A>C (p.Ile733Leu) c.2290A>C (p.Ile764Leu) c.2176A>C (p.Ile726Leu) c.2173A>C (p.Ile725Leu) c.2026A>C (p.Ile676Leu) c.1132A>C (p.Ile378Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.39012319T>A | CA297205 | SOS1 | c.964A>T (p.Ile322Phe) n.3529A>T n.2204A>T n.286A>T c.2086A>T (p.Ile696Phe) c.934+1141A>T (n.934+1141A>T) c.2197A>T (p.Ile733Phe) c.2290A>T (p.Ile764Phe) c.2176A>T (p.Ile726Phe) c.2173A>T (p.Ile725Phe) c.2026A>T (p.Ile676Phe) c.1132A>T (p.Ile378Phe) | ClinVar dbSNP |
| 2 | g.39012319T= | CA1246131376 | SOS1 | c.964A= (p.Ile322=) n.3529A= n.2204A= n.286A= c.2086A= (p.Ile696=) c.934+1141A= (n.934+1141A=) c.2197A= (p.Ile733=) c.2290A= (p.Ile764=) c.2176A= (p.Ile726=) c.2173A= (p.Ile725=) c.2026A= (p.Ile676=) c.1132A= (p.Ile378=) | dbSNP |