| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51140464del | CA622654495 | SALL1 | c.1763del (p.Pro588GlnfsTer18) c.1472del (p.Pro491GlnfsTer18) c.77-2907del (n.77-2907del) | dbSNP gnomAD v2 |
| 16 | g.51140464dup | CA16042945 | SALL1 | c.1763dup (p.Gly589ArgfsTer6) c.1472dup (p.Gly492ArgfsTer6) c.77-2907dup (n.77-2907dup) | ClinVar dbSNP |