| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587824del | CA326590 | CFTR | c.1670del (p.Ser557PhefsTer2) c.*1384del (n.*1384del) c.1487del (p.Ser496PhefsTer2) c.*1494del (n.*1494del) c.1244del (p.Ser415PhefsTer2) c.1402-15002del (n.1402-15002del) c.1580del (p.Ser527PhefsTer2) c.1760del (p.Ser587PhefsTer2) c.1427del (p.Ser476PhefsTer2) | ClinVar dbSNP |
| 7 | g.117587824C= | CA1737390595 | CFTR | c.1670C= (p.Ser557=) c.*1384C= (n.*1384C=) c.1487C= (p.Ser496=) c.*1494C= (n.*1494C=) c.1244C= (p.Ser415=) c.1402-15002C= (n.1402-15002C=) c.1580C= (p.Ser527=) c.1760C= (p.Ser587=) c.1427C= (p.Ser476=) | dbSNP dbSNP |