| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.88294111C>G | CA118692 | CTSC | c.1287G>C (p.Trp429Cys) n.5600G>C c.*1094G>C (n.*1094G>C) c.*793G>C (n.*793G>C) c.*964G>C (n.*964G>C) c.1254G>C (p.Trp418Cys) c.1248G>C (p.Trp416Cys) c.*938G>C (n.*938G>C) c.889+2022G>C (n.889+2022G>C) c.1155G>C (p.Trp385Cys) c.924G>C (p.Trp308Cys) n.4021G>C | ClinVar dbSNP |
| 11 | g.88294111C= | CA1989482634 | CTSC | c.1287G= (p.Trp429=) n.5600G= c.*1094G= (n.*1094G=) c.*793G= (n.*793G=) c.*964G= (n.*964G=) c.1254G= (p.Trp418=) c.1248G= (p.Trp416=) c.*938G= (n.*938G=) c.889+2022G= (n.889+2022G=) c.1155G= (p.Trp385=) c.924G= (p.Trp308=) n.4021G= | dbSNP |