| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117531067del | CA328123 | CFTR | c.442del (p.Ile148LeufsTer5) c.*339del (n.*339del) c.*266del (n.*266del) c.199del (p.Ile67LeufsTer5) c.532del (p.Ile178LeufsTer5) | ClinVar dbSNP |
| 7 | g.117531067A= | CA1737359642 | CFTR | c.442A= (p.Ile148=) c.*339A= (n.*339A=) c.*266A= (n.*266A=) c.199A= (p.Ile67=) c.532A= (p.Ile178=) | dbSNP dbSNP |