| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33016744G>A | CA156185 | GLB1 | c.1444C>T (p.Arg482Cys) c.1051C>T (p.Arg351Cys) c.1354C>T (p.Arg452Cys) n.543C>T n.481C>T n.696C>T c.1588C>T (p.Arg530Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33016744G= | CA1355985396 | GLB1 | c.1444C= (p.Arg482=) c.1051C= (p.Arg351=) c.1354C= (p.Arg452=) n.543C= n.481C= n.696C= c.1588C= (p.Arg530=) | dbSNP |