| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559643C>A | CA325546 | CFTR,CFTR-AS1 | c.1572C>A (p.Cys524Ter) c.*1286C>A (n.*1286C>A) c.1389C>A (p.Cys463Ter) c.*130C>A (n.*130C>A) c.*1396C>A (n.*1396C>A) c.1146C>A (p.Cys382Ter) c.1482C>A (p.Cys494Ter) n.6C>A c.1662C>A (p.Cys554Ter) c.1329C>A (p.Cys443Ter) n.221+1090G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559643C= | CA1737384890 | CFTR,CFTR-AS1 | c.1572C= (p.Cys524=) c.*1286C= (n.*1286C=) c.1389C= (p.Cys463=) c.*130C= (n.*130C=) c.*1396C= (n.*1396C=) c.1146C= (p.Cys382=) c.1482C= (p.Cys494=) n.6C= c.1662C= (p.Cys554=) c.1329C= (p.Cys443=) n.221+1090G= | dbSNP |