| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.88294358T>C | CA118701 | CTSC | c.1040A>G (p.Tyr347Cys) n.5353A>G c.*847A>G (n.*847A>G) c.*546A>G (n.*546A>G) c.*717A>G (n.*717A>G) c.1007A>G (p.Tyr336Cys) c.1001A>G (p.Tyr334Cys) c.*691A>G (n.*691A>G) c.889+1775A>G (n.889+1775A>G) c.908A>G (p.Tyr303Cys) c.677A>G (p.Tyr226Cys) n.3774A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.88294358T= | CA1989482757 | CTSC | c.1040A= (p.Tyr347=) n.5353A= c.*847A= (n.*847A=) c.*546A= (n.*546A=) c.*717A= (n.*717A=) c.1007A= (p.Tyr336=) c.1001A= (p.Tyr334=) c.*691A= (n.*691A=) c.889+1775A= (n.889+1775A=) c.908A= (p.Tyr303=) c.677A= (p.Tyr226=) n.3774A= | dbSNP |