| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51788890G>A | CA340059 | SALL4 | c.2713C>T (p.Arg905Ter) c.382C>T (p.Arg128Ter) c.1402C>T (p.Arg468Ter) c.2407C>T (p.Arg803Ter) c.2587C>T (p.Arg863Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51788890G= | CA2369157326 | SALL4 | c.2713C= (p.Arg905=) c.382C= (p.Arg128=) c.1402C= (p.Arg468=) c.2407C= (p.Arg803=) c.2587C= (p.Arg863=) | dbSNP |