| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603613T>A | CA326903 | CFTR | c.2739T>A (p.Tyr913Ter) c.*2453T>A (n.*2453T>A) c.2556T>A (p.Tyr852Ter) c.*1039T>A (n.*1039T>A) c.*2563T>A (n.*2563T>A) c.2313T>A (p.Tyr771Ter) c.330T>A (p.Tyr110Ter) c.389T>A c.1521T>A (p.Tyr507Ter) c.2649T>A (p.Tyr883Ter) c.2829T>A (p.Tyr943Ter) c.2496T>A (p.Tyr832Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603613T>C | CA457227943 | CFTR | c.2739T>C (p.Tyr913=) c.*2453T>C (n.*2453T>C) c.2556T>C (p.Tyr852=) c.*1039T>C (n.*1039T>C) c.*2563T>C (n.*2563T>C) c.2313T>C (p.Tyr771=) c.330T>C (p.Tyr110=) c.389T>C c.1521T>C (p.Tyr507=) c.2649T>C (p.Tyr883=) c.2829T>C (p.Tyr943=) c.2496T>C (p.Tyr832=) | ClinVar dbSNP |
| 7 | g.117603613T= | CA1737374723 | CFTR | c.2739T= (p.Tyr913=) c.*2453T= (n.*2453T=) c.2556T= (p.Tyr852=) c.*1039T= (n.*1039T=) c.*2563T= (n.*2563T=) c.2313T= (p.Tyr771=) c.330T= (p.Tyr110=) c.389T= c.1521T= (p.Tyr507=) c.2649T= (p.Tyr883=) c.2829T= (p.Tyr943=) c.2496T= (p.Tyr832=) | dbSNP |
| 7 | g.117603613T>G | CA368986574 | CFTR | c.2739T>G (p.Tyr913Ter) c.*2453T>G (n.*2453T>G) c.2556T>G (p.Tyr852Ter) c.*1039T>G (n.*1039T>G) c.*2563T>G (n.*2563T>G) c.2313T>G (p.Tyr771Ter) c.330T>G (p.Tyr110Ter) c.389T>G c.1521T>G (p.Tyr507Ter) c.2649T>G (p.Tyr883Ter) c.2829T>G (p.Tyr943Ter) c.2496T>G (p.Tyr832Ter) | ClinVar dbSNP |