| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51141255G>A | CA118793 | SALL1 | c.967C>T (p.Gln323Ter) c.676C>T (p.Gln226Ter) c.77-3703C>T (n.77-3703C>T) | ClinVar dbSNP |
| 16 | g.51141255G= | CA2222021771 | SALL1 | c.967C= (p.Gln323=) c.676C= (p.Gln226=) c.77-3703C= (n.77-3703C=) | dbSNP |