| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33016818C>T | CA114640 | GLB1 | c.1370G>A (p.Arg457Gln) c.977G>A (p.Arg326Gln) c.1280G>A (p.Arg427Gln) n.469G>A n.407G>A n.622G>A c.1514G>A (p.Arg505Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.33016818C= | CA1355985421 | GLB1 | c.1370G= (p.Arg457=) c.977G= (p.Arg326=) c.1280G= (p.Arg427=) n.469G= n.407G= n.622G= c.1514G= (p.Arg505=) | dbSNP |