| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540269C>A | CA164953854 | CFTR | c.1039C>A (p.Arg347Ser) c.*936C>A (n.*936C>A) c.*863C>A (n.*863C>A) c.796C>A (p.Arg266Ser) c.949C>A (p.Arg317Ser) c.1129C>A (p.Arg377Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540269C>T | CA326373 | CFTR | c.1039C>T (p.Arg347Cys) c.*936C>T (n.*936C>T) c.*863C>T (n.*863C>T) c.796C>T (p.Arg266Cys) c.949C>T (p.Arg317Cys) c.1129C>T (p.Arg377Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |