| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587799A>C | CA254108 | CFTR | c.1645A>C (p.Ser549Arg) c.*1359A>C (n.*1359A>C) c.1462A>C (p.Ser488Arg) c.*1469A>C (n.*1469A>C) c.1219A>C (p.Ser407Arg) c.1402-15027A>C (n.1402-15027A>C) c.1555A>C (p.Ser519Arg) c.1735A>C (p.Ser579Arg) c.1402A>C (p.Ser468Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117587799A= | CA1737390469 | CFTR | c.1645A= (p.Ser549=) c.*1359A= (n.*1359A=) c.1462A= (p.Ser488=) c.*1469A= (n.*1469A=) c.1219A= (p.Ser407=) c.1402-15027A= (n.1402-15027A=) c.1555A= (p.Ser519=) c.1735A= (p.Ser579=) c.1402A= (p.Ser468=) | dbSNP |