| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117665466C>T | CA327424 | CFTR | c.*353C>T (n.*353C>T) c.*3858C>T (n.*3858C>T) c.3961C>T (p.Gln1321Ter) c.*357C>T (n.*357C>T) c.*797C>T (n.*797C>T) c.4144C>T (p.Gln1382Ter) c.*805C>T (n.*805C>T) c.*2519C>T (n.*2519C>T) c.4138C>T (p.Gln1380Ter) c.*3968C>T (n.*3968C>T) c.3718C>T (p.Gln1240Ter) n.2312C>T c.1008C>T (n.1008C>T) c.1931C>T (n.1931C>T) c.726C>T c.1594C>T c.4054C>T (p.Gln1352Ter) c.270C>T c.4234C>T (p.Gln1412Ter) c.3901C>T (p.Gln1301Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117665466C>A | CA4451653 | CFTR | c.*353C>A (n.*353C>A) c.*3858C>A (n.*3858C>A) c.3961C>A (p.Gln1321Lys) c.*357C>A (n.*357C>A) c.*797C>A (n.*797C>A) c.4144C>A (p.Gln1382Lys) c.*805C>A (n.*805C>A) c.*2519C>A (n.*2519C>A) c.4138C>A (p.Gln1380Lys) c.*3968C>A (n.*3968C>A) c.3718C>A (p.Gln1240Lys) n.2312C>A c.1008C>A (n.1008C>A) c.1931C>A (n.1931C>A) c.726C>A c.1594C>A c.4054C>A (p.Gln1352Lys) c.270C>A c.4234C>A (p.Gln1412Lys) c.3901C>A (p.Gln1301Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |