| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33051766T>C | CA114638 | GLB1 | c.947A>G (p.Tyr316Cys) c.554A>G (p.Tyr185Cys) c.857A>G (p.Tyr286Cys) c.470A>G (p.Tyr157Cys) n.322A>G n.350A>G n.473A>G c.1091A>G (p.Tyr364Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33051766T= | CA1356000954 | GLB1 | c.947A= (p.Tyr316=) c.554A= (p.Tyr185=) c.857A= (p.Tyr286=) c.470A= (p.Tyr157=) n.322A= n.350A= n.473A= c.1091A= (p.Tyr364=) | dbSNP |