| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117531114G>A | CA327530 | CFTR | c.489G>A (p.Lys163=) c.*386G>A (n.*386G>A) c.*313G>A (n.*313G>A) c.246G>A (p.Lys82=) c.579G>A (p.Lys193=) | ClinVar dbSNP |
| 7 | g.117531114G= | CA1737359802 | CFTR | c.489G= (p.Lys163=) c.*386G= (n.*386G=) c.*313G= (n.*313G=) c.246G= (p.Lys82=) c.579G= (p.Lys193=) | dbSNP |