| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611622G>C | CA221023 | CFTR | c.3181G>C (p.Gly1061Arg) c.*2895G>C (n.*2895G>C) c.2998G>C (p.Gly1000Arg) c.*1481G>C (n.*1481G>C) c.*3005G>C (n.*3005G>C) c.2755G>C (p.Gly919Arg) c.772G>C (p.Gly258Arg) c.831G>C c.1963G>C (p.Gly655Arg) c.3091G>C (p.Gly1031Arg) c.6G>C c.3271G>C (p.Gly1091Arg) c.2938G>C (p.Gly980Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611622G>A | CA368991973 | CFTR | c.3181G>A (p.Gly1061Arg) c.*2895G>A (n.*2895G>A) c.2998G>A (p.Gly1000Arg) c.*1481G>A (n.*1481G>A) c.*3005G>A (n.*3005G>A) c.2755G>A (p.Gly919Arg) c.772G>A (p.Gly258Arg) c.831G>A c.1963G>A (p.Gly655Arg) c.3091G>A (p.Gly1031Arg) c.6G>A c.3271G>A (p.Gly1091Arg) c.2938G>A (p.Gly980Arg) | dbSNP gnomAD v3 gnomAD v4 |