| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33018482C>T | CA114656 | GLB1 | c.1313G>A (p.Gly438Glu) c.920G>A (p.Gly307Glu) c.1223G>A (p.Gly408Glu) n.412G>A n.350G>A n.565G>A c.1457G>A (p.Gly486Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33018482C= | CA1355986168 | GLB1 | c.1313G= (p.Gly438=) c.920G= (p.Gly307=) c.1223G= (p.Gly408=) n.412G= n.350G= n.565G= c.1457G= (p.Gly486=) | dbSNP |