| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51141107G>T | CA254169 | SALL1 | c.1115C>A (p.Ser372Ter) c.824C>A (p.Ser275Ter) c.77-3555C>A (n.77-3555C>A) | ClinVar dbSNP |
| 16 | g.51141107G>C | CA254172 | SALL1 | c.1115C>G (p.Ser372Ter) c.824C>G (p.Ser275Ter) c.77-3555C>G (n.77-3555C>G) | ClinVar dbSNP |
| 16 | g.51141107G= | CA2222021433 | SALL1 | c.1115C= (p.Ser372=) c.824C= (p.Ser275=) c.77-3555C= (n.77-3555C=) | dbSNP |