| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535263C>T | CA328129 | CFTR | c.595C>T (p.His199Tyr) c.*492C>T (n.*492C>T) c.*419C>T (n.*419C>T) c.352C>T (p.His118Tyr) c.505C>T (p.His169Tyr) c.685C>T (p.His229Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117535263C= | CA1737362114 | CFTR | c.595C= (p.His199=) c.*492C= (n.*492C=) c.*419C= (n.*419C=) c.352C= (p.His118=) c.505C= (p.His169=) c.685C= (p.His229=) | dbSNP |