| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51789010G>A | CA340056 | SALL4 | c.2593C>T (p.Arg865Ter) c.262C>T (p.Arg88Ter) c.1282C>T (p.Arg428Ter) c.2287C>T (p.Arg763Ter) c.2467C>T (p.Arg823Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 20 | g.51789010G>C | CA409006767 | SALL4 | c.2593C>G (p.Arg865Gly) c.262C>G (p.Arg88Gly) c.1282C>G (p.Arg428Gly) c.2287C>G (p.Arg763Gly) c.2467C>G (p.Arg823Gly) | dbSNP gnomAD v4 |
| 20 | g.51789010G= | CA2369157365 | SALL4 | c.2593C= (p.Arg865=) c.262C= (p.Arg88=) c.1282C= (p.Arg428=) c.2287C= (p.Arg763=) c.2467C= (p.Arg823=) | dbSNP |