| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51141273G>A | CA339760 | SALL1 | c.949C>T (p.Pro317Ser) c.658C>T (p.Pro220Ser) c.77-3721C>T (n.77-3721C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141273G>T | CA395890275 | SALL1 | c.949C>A (p.Pro317Thr) c.658C>A (p.Pro220Thr) c.77-3721C>A (n.77-3721C>A) | dbSNP gnomAD v2 gnomAD v4 |