| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.51791960T>A | CA252728 | SALL4 | c.523A>T (p.Lys175Ter) c.131-2819A>T (n.131-2819A>T) c.217A>T (p.Lys73Ter) c.397A>T (p.Lys133Ter) | ClinVar dbSNP |
| 20 | g.51791960T>C | CA409017085 | SALL4 | c.523A>G (p.Lys175Glu) c.131-2819A>G (n.131-2819A>G) c.217A>G (p.Lys73Glu) c.397A>G (p.Lys133Glu) | dbSNP gnomAD v4 |
| 20 | g.51791960T= | CA2369158604 | SALL4 | c.523A= (p.Lys175=) c.131-2819A= (n.131-2819A=) c.217A= (p.Lys73=) c.397A= (p.Lys133=) | dbSNP |