| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590378T>G | CA326624 | CFTR | c.1705T>G (p.Tyr569Asp) c.*1419T>G (n.*1419T>G) c.1522T>G (p.Tyr508Asp) c.*5T>G (n.*5T>G) c.*1529T>G (n.*1529T>G) c.1279T>G (p.Tyr427Asp) c.1402-12448T>G (n.1402-12448T>G) c.1615T>G (p.Tyr539Asp) c.1795T>G (p.Tyr599Asp) c.1462T>G (p.Tyr488Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590378T>C | CA326623 | CFTR | c.1705T>C (p.Tyr569His) c.*1419T>C (n.*1419T>C) c.1522T>C (p.Tyr508His) c.*5T>C (n.*5T>C) c.*1529T>C (n.*1529T>C) c.1279T>C (p.Tyr427His) c.1402-12448T>C (n.1402-12448T>C) c.1615T>C (p.Tyr539His) c.1795T>C (p.Tyr599His) c.1462T>C (p.Tyr488His) | ClinVar dbSNP |