| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590400G>T | CA4451073 | CFTR | c.1727G>T (p.Gly576Val) c.*1441G>T (n.*1441G>T) c.1544G>T (p.Gly515Val) c.*27G>T (n.*27G>T) c.*1551G>T (n.*1551G>T) c.1301G>T (p.Gly434Val) c.1402-12426G>T (n.1402-12426G>T) c.1637G>T (p.Gly546Val) c.1817G>T (p.Gly606Val) c.1484G>T (p.Gly495Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590400G>C | CA182838 | CFTR | c.1727G>C (p.Gly576Ala) c.*1441G>C (n.*1441G>C) c.1544G>C (p.Gly515Ala) c.*27G>C (n.*27G>C) c.*1551G>C (n.*1551G>C) c.1301G>C (p.Gly434Ala) c.1402-12426G>C (n.1402-12426G>C) c.1637G>C (p.Gly546Ala) c.1817G>C (p.Gly606Ala) c.1484G>C (p.Gly495Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |