| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117534280T>C | CA327535 | CFTR | c.494T>C (p.Leu165Ser) c.*391T>C (n.*391T>C) c.*318T>C (n.*318T>C) c.251T>C (p.Leu84Ser) c.490-968T>C (n.490-968T>C) c.584T>C (p.Leu195Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117534280T= | CA1737361697 | CFTR | c.494T= (p.Leu165=) c.*391T= (n.*391T=) c.*318T= (n.*318T=) c.251T= (p.Leu84=) c.490-968T= (n.490-968T=) c.584T= (p.Leu195=) | dbSNP |