| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590397T>A | CA4451072 | CFTR | c.1724T>A (p.Phe575Tyr) c.*1438T>A (n.*1438T>A) c.1541T>A (p.Phe514Tyr) c.*24T>A (n.*24T>A) c.*1548T>A (n.*1548T>A) c.1298T>A (p.Phe433Tyr) c.1402-12429T>A (n.1402-12429T>A) c.1634T>A (p.Phe545Tyr) c.1814T>A (p.Phe605Tyr) c.1481T>A (p.Phe494Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590397T= | CA1737392384 | CFTR | c.1724T= (p.Phe575=) c.*1438T= (n.*1438T=) c.1541T= (p.Phe514=) c.*24T= (n.*24T=) c.*1548T= (n.*1548T=) c.1298T= (p.Phe433=) c.1402-12429T= (n.1402-12429T=) c.1634T= (p.Phe545=) c.1814T= (p.Phe605=) c.1481T= (p.Phe494=) | dbSNP |