| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.88294163T>C | CA118698 | CTSC | c.1235A>G (p.Tyr412Cys) n.5548A>G c.*1042A>G (n.*1042A>G) c.*741A>G (n.*741A>G) c.*912A>G (n.*912A>G) c.1202A>G (p.Tyr401Cys) c.1196A>G (p.Tyr399Cys) c.*886A>G (n.*886A>G) c.889+1970A>G (n.889+1970A>G) c.1103A>G (p.Tyr368Cys) c.872A>G (p.Tyr291Cys) n.3969A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.88294163T>A | CA382021581 | CTSC | c.1235A>T (p.Tyr412Phe) n.5548A>T c.*1042A>T (n.*1042A>T) c.*741A>T (n.*741A>T) c.*912A>T (n.*912A>T) c.1202A>T (p.Tyr401Phe) c.1196A>T (p.Tyr399Phe) c.*886A>T (n.*886A>T) c.889+1970A>T (n.889+1970A>T) c.1103A>T (p.Tyr368Phe) c.872A>T (p.Tyr291Phe) n.3969A>T | dbSNP |