| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540251T>C | CA328077 | CFTR | c.1021T>C (p.Ser341Pro) c.*918T>C (n.*918T>C) c.*845T>C (n.*845T>C) c.778T>C (p.Ser260Pro) c.931T>C (p.Ser311Pro) c.1111T>C (p.Ser371Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540251T= | CA1737332236 | CFTR | c.1021T= (p.Ser341=) c.*918T= (n.*918T=) c.*845T= (n.*845T=) c.778T= (p.Ser260=) c.931T= (p.Ser311=) c.1111T= (p.Ser371=) | dbSNP |