| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603654T>A | CA368986791 | CFTR | c.2780T>A (p.Leu927His) c.*2494T>A (n.*2494T>A) c.2597T>A (p.Leu866His) c.*1080T>A (n.*1080T>A) c.*2604T>A (n.*2604T>A) c.2354T>A (p.Leu785His) c.371T>A (p.Leu124His) c.430T>A c.1562T>A (p.Leu521His) c.2690T>A (p.Leu897His) c.2870T>A (p.Leu957His) c.2537T>A (p.Leu846His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603654T>C | CA328107 | CFTR | c.2780T>C (p.Leu927Pro) c.*2494T>C (n.*2494T>C) c.2597T>C (p.Leu866Pro) c.*1080T>C (n.*1080T>C) c.*2604T>C (n.*2604T>C) c.2354T>C (p.Leu785Pro) c.371T>C (p.Leu124Pro) c.430T>C c.1562T>C (p.Leu521Pro) c.2690T>C (p.Leu897Pro) c.2870T>C (p.Leu957Pro) c.2537T>C (p.Leu846Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603654T= | CA1737375026 | CFTR | c.2780T= (p.Leu927=) c.*2494T= (n.*2494T=) c.2597T= (p.Leu866=) c.*1080T= (n.*1080T=) c.*2604T= (n.*2604T=) c.2354T= (p.Leu785=) c.371T= (p.Leu124=) c.430T= c.1562T= (p.Leu521=) c.2690T= (p.Leu897=) c.2870T= (p.Leu957=) c.2537T= (p.Leu846=) | dbSNP |