| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530991T>A | CA328118 | CFTR | c.366T>A (p.Tyr122Ter) c.*263T>A (n.*263T>A) c.*190T>A (n.*190T>A) c.123T>A (p.Tyr41Ter) c.456T>A (p.Tyr152Ter) | ClinVar dbSNP |
| 7 | g.117530991T= | CA1737359441 | CFTR | c.366T= (p.Tyr122=) c.*263T= (n.*263T=) c.*190T= (n.*190T=) c.123T= (p.Tyr41=) c.456T= (p.Tyr152=) | dbSNP |