| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117509140G>A | CA325573 | CFTR | c.271G>A (p.Gly91Arg) c.*168G>A (n.*168G>A) c.*95G>A (n.*95G>A) c.28G>A (p.Gly10Arg) n.355G>A n.428G>A c.361G>A (p.Gly121Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117509140G= | CA1737340692 | CFTR | c.271G= (p.Gly91=) c.*168G= (n.*168G=) c.*95G= (n.*95G=) c.28G= (p.Gly10=) n.355G= n.428G= c.361G= (p.Gly121=) | dbSNP |