| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540218G>T | CA328133 | CFTR | c.988G>T (p.Gly330Ter) c.*885G>T (n.*885G>T) c.*812G>T (n.*812G>T) c.745G>T (p.Gly249Ter) c.898G>T (p.Gly300Ter) c.1078G>T (p.Gly360Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540218G= | CA1737332081 | CFTR | c.988G= (p.Gly330=) c.*885G= (n.*885G=) c.*812G= (n.*812G=) c.745G= (p.Gly249=) c.898G= (p.Gly300=) c.1078G= (p.Gly360=) | dbSNP |