| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602851G>A | CA326877 | CFTR | c.2645G>A (p.Trp882Ter) c.*2359G>A (n.*2359G>A) c.2462G>A (p.Trp821Ter) c.*945G>A (n.*945G>A) c.*2469G>A (n.*2469G>A) c.2219G>A (p.Trp740Ter) c.236G>A (p.Trp79Ter) c.295G>A c.1427G>A (p.Trp476Ter) c.2555G>A (p.Trp852Ter) c.2735G>A (p.Trp912Ter) c.2402G>A (p.Trp801Ter) | ClinVar dbSNP |
| 7 | g.117602851G= | CA1737373422 | CFTR | c.2645G= (p.Trp882=) c.*2359G= (n.*2359G=) c.2462G= (p.Trp821=) c.*945G= (n.*945G=) c.*2469G= (n.*2469G=) c.2219G= (p.Trp740=) c.236G= (p.Trp79=) c.295G= c.1427G= (p.Trp476=) c.2555G= (p.Trp852=) c.2735G= (p.Trp912=) c.2402G= (p.Trp801=) | dbSNP |