| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559558G>A | CA326501 | CFTR,CFTR-AS1 | c.1487G>A (p.Trp496Ter) c.*1201G>A (n.*1201G>A) c.1304G>A (p.Trp435Ter) c.*45G>A (n.*45G>A) c.*1311G>A (n.*1311G>A) c.1061G>A (p.Trp354Ter) c.1397G>A (p.Trp466Ter) c.1577G>A (p.Trp526Ter) c.1244G>A (p.Trp415Ter) n.221+1175C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117559558G= | CA1737384487 | CFTR,CFTR-AS1 | c.1487G= (p.Trp496=) c.*1201G= (n.*1201G=) c.1304G= (p.Trp435=) c.*45G= (n.*45G=) c.*1311G= (n.*1311G=) c.1061G= (p.Trp354=) c.1397G= (p.Trp466=) c.1577G= (p.Trp526=) c.1244G= (p.Trp415=) n.221+1175C= | dbSNP |