| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33016819G>A | CA114630 | GLB1 | c.1369C>T (p.Arg457Ter) c.976C>T (p.Arg326Ter) c.1279C>T (p.Arg427Ter) n.468C>T n.406C>T n.621C>T c.1513C>T (p.Arg505Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33016819G>C | CA351989831 | GLB1 | c.1369C>G (p.Arg457Gly) c.976C>G (p.Arg326Gly) c.1279C>G (p.Arg427Gly) n.468C>G n.406C>G n.621C>G c.1513C>G (p.Arg505Gly) | dbSNP gnomAD v4 |
| 3 | g.33016819G= | CA1355985422 | GLB1 | c.1369C= (p.Arg457=) c.976C= (p.Arg326=) c.1279C= (p.Arg427=) n.468C= n.406C= n.621C= c.1513C= (p.Arg505=) | dbSNP |