| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540259del | CA326371 | CFTR | c.1029del (p.Cys343Ter) c.*926del (n.*926del) c.*853del (n.*853del) c.786del (p.Cys262Ter) c.939del (p.Cys313Ter) c.1119del (p.Cys373Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540259C= | CA1737332267 | CFTR | c.1029C= (p.Cys343=) c.*926C= (n.*926C=) c.*853C= (n.*853C=) c.786C= (p.Cys262=) c.939C= (p.Cys313=) c.1119C= (p.Cys373=) | dbSNP dbSNP |