| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39058794T>A | CA236037 | SOS1 | n.251A>T n.1062A>T n.231A>T c.324A>T c.224A>T (p.Gln75Leu) c.53A>T (p.Gln18Leu) c.317A>T (p.Gln106Leu) c.203A>T (p.Gln68Leu) c.200A>T (p.Gln67Leu) | ClinVar dbSNP |
| 2 | g.39058794T>C | CA346374046 | SOS1 | n.251A>G n.1062A>G n.231A>G c.324A>G c.224A>G (p.Gln75Arg) c.53A>G (p.Gln18Arg) c.317A>G (p.Gln106Arg) c.203A>G (p.Gln68Arg) c.200A>G (p.Gln67Arg) | ClinVar dbSNP |
| 2 | g.39058794T= | CA1246156105 | SOS1 | n.251A= n.1062A= n.231A= c.324A= c.224A= (p.Gln75=) c.53A= (p.Gln18=) c.317A= (p.Gln106=) c.203A= (p.Gln68=) c.200A= (p.Gln67=) | dbSNP |