| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535248G>T | CA368976699 | CFTR | c.580G>T (p.Gly194Ter) c.*477G>T (n.*477G>T) c.*404G>T (n.*404G>T) c.337G>T (p.Gly113Ter) c.490G>T (p.Gly164Ter) c.670G>T (p.Gly224Ter) | ClinVar dbSNP |
| 7 | g.117535248G>A | CA164945384 | CFTR | c.580G>A (p.Gly194Arg) c.*477G>A (n.*477G>A) c.*404G>A (n.*404G>A) c.337G>A (p.Gly113Arg) c.490G>A (p.Gly164Arg) c.670G>A (p.Gly224Arg) | ClinVar dbSNP |