| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117536629C>G | CA325712 | CFTR | c.825C>G (p.Tyr275Ter) c.*722C>G (n.*722C>G) c.*649C>G (n.*649C>G) c.582C>G (p.Tyr194Ter) c.735C>G (p.Tyr245Ter) c.915C>G (p.Tyr305Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117536629C= | CA1737327190 | CFTR | c.825C= (p.Tyr275=) c.*722C= (n.*722C=) c.*649C= (n.*649C=) c.582C= (p.Tyr194=) c.735C= (p.Tyr245=) c.915C= (p.Tyr305=) | dbSNP |
| 7 | g.117536629C>T | CA457227403 | CFTR | c.825C>T (p.Tyr275=) c.*722C>T (n.*722C>T) c.*649C>T (n.*649C>T) c.582C>T (p.Tyr194=) c.735C>T (p.Tyr245=) c.915C>T (p.Tyr305=) | ClinVar dbSNP |