| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51141396G>T | CA8053392 | SALL1 | c.826C>A (p.Arg276=) c.535C>A (p.Arg179=) c.77-3844C>A (n.77-3844C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141396G>A | CA340678 | SALL1 | c.826C>T (p.Arg276Ter) c.535C>T (p.Arg179Ter) c.77-3844C>T (n.77-3844C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.51141396G>C | CA395890674 | SALL1 | c.826C>G (p.Arg276Gly) c.535C>G (p.Arg179Gly) c.77-3844C>G (n.77-3844C>G) | dbSNP gnomAD v4 |
| 16 | g.51141396G= | CA2222022062 | SALL1 | c.826C= (p.Arg276=) c.535C= (p.Arg179=) c.77-3844C= (n.77-3844C=) | dbSNP |