| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117534363G>A | CA327578 | CFTR | c.577G>A (p.Glu193Lys) c.667G>A (p.Glu223Lys) c.334G>A (p.Glu112Lys) n.490-885G>A (p.=) | ClinVar dbSNP gnomAD COSMIC |
| 7 | g.117534363G>T | CA221033 | CFTR | c.577G>T (p.Glu193Ter) c.667G>T (p.Glu223Ter) c.334G>T (p.Glu112Ter) n.490-885G>T (p.=) | ClinVar dbSNP |