| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117542108G>C | CA326435 | CFTR | c.1209G>C (p.Glu403Asp) c.*1106G>C (n.*1106G>C) c.*1033G>C (n.*1033G>C) c.966G>C (p.Glu322Asp) c.1119G>C (p.Glu373Asp) c.1299G>C (p.Glu433Asp) | ClinVar dbSNP |
| 7 | g.117542108G>A | CA326433 | CFTR | c.1209G>A (p.Glu403=) c.*1106G>A (n.*1106G>A) c.*1033G>A (n.*1033G>A) c.966G>A (p.Glu322=) c.1119G>A (p.Glu373=) c.1299G>A (p.Glu433=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117542108G= | CA1737335174 | CFTR | c.1209G= (p.Glu403=) c.*1106G= (n.*1106G=) c.*1033G= (n.*1033G=) c.966G= (p.Glu322=) c.1119G= (p.Glu373=) c.1299G= (p.Glu433=) | dbSNP |
| 7 | g.117542108G>T | CA368980326 | CFTR | c.1209G>T (p.Glu403Asp) c.*1106G>T (n.*1106G>T) c.*1033G>T (n.*1033G>T) c.966G>T (p.Glu322Asp) c.1119G>T (p.Glu373Asp) c.1299G>T (p.Glu433Asp) | ClinVar dbSNP |