| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117509123G>T | CA326843 | CFTR | c.254G>T (p.Gly85Val) c.*151G>T (n.*151G>T) c.*78G>T (n.*78G>T) c.11G>T (p.Gly4Val) n.338G>T n.411G>T c.344G>T (p.Gly115Val) | ClinVar dbSNP |
| 7 | g.117509123G>A | CA340647 | CFTR | c.254G>A (p.Gly85Glu) c.*151G>A (n.*151G>A) c.*78G>A (n.*78G>A) c.11G>A (p.Gly4Glu) n.338G>A n.411G>A c.344G>A (p.Gly115Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117509123G= | CA1737340591 | CFTR | c.254G= (p.Gly85=) c.*151G= (n.*151G=) c.*78G= (n.*78G=) c.11G= (p.Gly4=) n.338G= n.411G= c.344G= (p.Gly115=) | dbSNP |