| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117594976G>A | CA328104 | CFTR | c.2537G>A (p.Trp846Ter) c.*2251G>A (n.*2251G>A) c.2354G>A (p.Trp785Ter) c.*837G>A (n.*837G>A) c.*2361G>A (n.*2361G>A) c.2111G>A (p.Trp704Ter) c.128G>A (p.Trp43Ter) c.187G>A c.1402-7850G>A (n.1402-7850G>A) c.2447G>A (p.Trp816Ter) c.2627G>A (p.Trp876Ter) c.2294G>A (p.Trp765Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117594976G= | CA1737397752 | CFTR | c.2537G= (p.Trp846=) c.*2251G= (n.*2251G=) c.2354G= (p.Trp785=) c.*837G= (n.*837G=) c.*2361G= (n.*2361G=) c.2111G= (p.Trp704=) c.128G= (p.Trp43=) c.187G= c.1402-7850G= (n.1402-7850G=) c.2447G= (p.Trp816=) c.2627G= (p.Trp876=) c.2294G= (p.Trp765=) | dbSNP |
| 7 | g.117594976G>T | CA368983913 | CFTR | c.2537G>T (p.Trp846Leu) c.*2251G>T (n.*2251G>T) c.2354G>T (p.Trp785Leu) c.*837G>T (n.*837G>T) c.*2361G>T (n.*2361G>T) c.2111G>T (p.Trp704Leu) c.128G>T (p.Trp43Leu) c.187G>T c.1402-7850G>T (n.1402-7850G>T) c.2447G>T (p.Trp816Leu) c.2627G>T (p.Trp876Leu) c.2294G>T (p.Trp765Leu) | dbSNP gnomAD v4 |