| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32997310C>T | CA201251 | GLB1 | c.1769G>A (p.Arg590His) c.1376G>A (p.Arg459His) c.1679G>A (p.Arg560His) c.1913G>A (p.Arg638His) c.1734+16746G>A (n.1734+16746G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997310C= | CA1355976983 | GLB1 | c.1769G= (p.Arg590=) c.1376G= (p.Arg459=) c.1679G= (p.Arg560=) c.1913G= (p.Arg638=) c.1734+16746G= (n.1734+16746G=) | dbSNP dbSNP |