| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33014057T>C | CA2299321 | GLB1 | c.1733A>G (p.Lys578Arg) c.1340A>G (p.Lys447Arg) c.1643A>G (p.Lys548Arg) c.1877A>G (p.Lys626Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014057T= | CA1355984263 | GLB1 | c.1733A= (p.Lys578=) c.1340A= (p.Lys447=) c.1643A= (p.Lys548=) c.1877A= (p.Lys626=) | dbSNP |