| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33016743C>T | CA114644 | GLB1 | c.1445G>A (p.Arg482His) c.1052G>A (p.Arg351His) c.1355G>A (p.Arg452His) n.544G>A n.482G>A n.697G>A c.1589G>A (p.Arg530His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33016743C>A | CA351988815 | GLB1 | c.1445G>T (p.Arg482Leu) c.1052G>T (p.Arg351Leu) c.1355G>T (p.Arg452Leu) n.544G>T n.482G>T n.697G>T c.1589G>T (p.Arg530Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33016743C= | CA1355985395 | GLB1 | c.1445G= (p.Arg482=) c.1052G= (p.Arg351=) c.1355G= (p.Arg452=) n.544G= n.482G= n.697G= c.1589G= (p.Arg530=) | dbSNP |
| 3 | g.33016743C>G | CA351988805 | GLB1 | c.1445G>C (p.Arg482Pro) c.1052G>C (p.Arg351Pro) c.1355G>C (p.Arg452Pro) n.544G>C n.482G>C n.697G>C c.1589G>C (p.Arg530Pro) | dbSNP |