| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117509039G>A | CA326628 | CFTR | c.170G>A (p.Trp57Ter) c.*67G>A (n.*67G>A) c.168G>A (p.Met56Ile) c.-74G>A (n.-74G>A) n.254G>A n.327G>A c.260G>A (p.Trp87Ter) | ClinVar dbSNP |
| 7 | g.117509039G= | CA1737340258 | CFTR | c.170G= (p.Trp57=) c.*67G= (n.*67G=) c.168G= (p.Met56=) c.-74G= (n.-74G=) n.254G= n.327G= c.260G= (p.Trp87=) | dbSNP |