| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559509G>A | CA326484 | CFTR,CFTR-AS1 | c.1438G>A (p.Gly480Ser) c.*1152G>A (n.*1152G>A) c.1255G>A (p.Gly419Ser) c.1433G>A (p.Gly478Glu) c.*1262G>A (n.*1262G>A) c.1012G>A (p.Gly338Ser) c.1348G>A (p.Gly450Ser) c.1528G>A (p.Gly510Ser) c.1195G>A (p.Gly399Ser) n.221+1224C>T | ClinVar dbSNP |
| 7 | g.117559509G>T | CA221007 | CFTR,CFTR-AS1 | c.1438G>T (p.Gly480Cys) c.*1152G>T (n.*1152G>T) c.1255G>T (p.Gly419Cys) c.1433G>T (p.Gly478Val) c.*1262G>T (n.*1262G>T) c.1012G>T (p.Gly338Cys) c.1348G>T (p.Gly450Cys) c.1528G>T (p.Gly510Cys) c.1195G>T (p.Gly399Cys) n.221+1224C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |