| 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 |
| 11 | g.88294163T= | CA1989482656 | CTSC | c.1235A= (p.Tyr412=) n.5548A= c.*1042A= (n.*1042A=) c.*741A= (n.*741A=) c.*912A= (n.*912A=) c.1202A= (p.Tyr401=) c.1196A= (p.Tyr399=) c.*886A= (n.*886A=) c.889+1970A= (n.889+1970A=) c.1103A= (p.Tyr368=) c.872A= (p.Tyr291=) n.3969A= | dbSNP |