| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540285G>A | CA325583 | CFTR | c.1055G>A (p.Arg352Gln) c.*952G>A (n.*952G>A) c.*879G>A (n.*879G>A) c.812G>A (p.Arg271Gln) c.965G>A (p.Arg322Gln) c.1145G>A (p.Arg382Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117540285G= | CA1737332436 | CFTR | c.1055G= (p.Arg352=) c.*952G= (n.*952G=) c.*879G= (n.*879G=) c.812G= (p.Arg271=) c.965G= (p.Arg322=) c.1145G= (p.Arg382=) | dbSNP |