| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611650G>A | CA275095 | CFTR | c.3209G>A (p.Arg1070Gln) c.*2923G>A (n.*2923G>A) c.3026G>A (p.Arg1009Gln) c.*1509G>A (n.*1509G>A) c.*3033G>A (n.*3033G>A) c.2783G>A (p.Arg928Gln) c.800G>A (p.Arg267Gln) c.859G>A c.1991G>A (p.Arg664Gln) c.3119G>A (p.Arg1040Gln) c.34G>A c.3299G>A (p.Arg1100Gln) c.2966G>A (p.Arg989Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611650G>C | CA327100 | CFTR | c.3209G>C (p.Arg1070Pro) c.*2923G>C (n.*2923G>C) c.3026G>C (p.Arg1009Pro) c.*1509G>C (n.*1509G>C) c.*3033G>C (n.*3033G>C) c.2783G>C (p.Arg928Pro) c.800G>C (p.Arg267Pro) c.859G>C c.1991G>C (p.Arg664Pro) c.3119G>C (p.Arg1040Pro) c.34G>C c.3299G>C (p.Arg1100Pro) c.2966G>C (p.Arg989Pro) | ClinVar dbSNP |