| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51140829G>A | CA16043016 | SALL1 | c.1393C>T (p.Gln465Ter) c.1102C>T (p.Gln368Ter) c.77-3277C>T (n.77-3277C>T) | ClinVar dbSNP |
| 16 | g.51140829G= | CA2222020781 | SALL1 | c.1393C= (p.Gln465=) c.1102C= (p.Gln368=) c.77-3277C= (n.77-3277C=) | dbSNP |