| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540237T>C | CA4450876 | CFTR | c.1007T>C (p.Ile336Thr) c.*904T>C (n.*904T>C) c.*831T>C (n.*831T>C) c.764T>C (p.Ile255Thr) c.917T>C (p.Ile306Thr) c.1097T>C (p.Ile366Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540237T>A | CA345302 | CFTR | c.1007T>A (p.Ile336Lys) c.*904T>A (n.*904T>A) c.*831T>A (n.*831T>A) c.764T>A (p.Ile255Lys) c.917T>A (p.Ile306Lys) c.1097T>A (p.Ile366Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540237T= | CA1737332163 | CFTR | c.1007T= (p.Ile336=) c.*904T= (n.*904T=) c.*831T= (n.*831T=) c.764T= (p.Ile255=) c.917T= (p.Ile306=) c.1097T= (p.Ile366=) | dbSNP |