| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33046184G>A | CA200673 | GLB1 | c.1004C>T (p.Ala335Val) c.611C>T (p.Ala204Val) c.914C>T (p.Ala305Val) c.527C>T (p.Ala176Val) n.379C>T n.407C>T n.9C>T n.530C>T c.1148C>T (p.Ala383Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33046184G= | CA1355998428 | GLB1 | c.1004C= (p.Ala335=) c.611C= (p.Ala204=) c.914C= (p.Ala305=) c.527C= (p.Ala176=) n.379C= n.407C= n.9C= n.530C= c.1148C= (p.Ala383=) | dbSNP |