| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117534363G>A | CA327578 | CFTR | c.577G>A (p.Glu193Lys) c.*474G>A (n.*474G>A) c.*401G>A (n.*401G>A) c.334G>A (p.Glu112Lys) c.490-885G>A (n.490-885G>A) c.667G>A (p.Glu223Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117534363G>T | CA221033 | CFTR | c.577G>T (p.Glu193Ter) c.*474G>T (n.*474G>T) c.*401G>T (n.*401G>T) c.334G>T (p.Glu112Ter) c.490-885G>T (n.490-885G>T) c.667G>T (p.Glu223Ter) | ClinVar dbSNP gnomAD v4 |