| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33014263C>A | CA114646 | GLB1 | c.1527G>T (p.Trp509Cys) c.1134G>T (p.Trp378Cys) c.1437G>T (p.Trp479Cys) n.626G>T n.779G>T c.1671G>T (p.Trp557Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33014263C= | CA1355984364 | GLB1 | c.1527G= (p.Trp509=) c.1134G= (p.Trp378=) c.1437G= (p.Trp479=) n.626G= n.779G= c.1671G= (p.Trp557=) | dbSNP |