| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559479G>A | CA132747 | CFTR,CFTR-AS1 | c.1408G>A (p.Val470Met) c.*1122G>A (n.*1122G>A) c.1225G>A (p.Val409Met) c.1403G>A (p.Gly468Asp) c.*1232G>A (n.*1232G>A) c.982G>A (p.Val328Met) c.1318G>A (p.Val440Met) c.1498G>A (p.Val500Met) c.1165G>A (p.Val389Met) n.221+1254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559479G= | CA215118 | CFTR,CFTR-AS1 | c.1408G= (p.Val470=) c.*1122G= (n.*1122G=) c.1225G= (p.Val409=) c.1403G= (p.Gly468=) c.*1232G= (n.*1232G=) c.982G= (p.Val328=) c.1318G= (p.Val440=) c.1498G= (p.Val500=) c.1165G= (p.Val389=) n.221+1254C= | ClinVar dbSNP |