| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51139068G>A | CA16042991 | SALL1 | c.3154C>T (p.Gln1052Ter) c.2863C>T (p.Gln955Ter) c.77-1516C>T (n.77-1516C>T) | ClinVar dbSNP COSMIC |
| 16 | g.51139068G>C | CA395881681 | SALL1 | c.3154C>G (p.Gln1052Glu) c.2863C>G (p.Gln955Glu) c.77-1516C>G (n.77-1516C>G) | dbSNP gnomAD v4 |
| 16 | g.51139068G= | CA2222017373 | SALL1 | c.3154C= (p.Gln1052=) c.2863C= (p.Gln955=) c.77-1516C= (n.77-1516C=) | dbSNP |