| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590360T>G | CA326608 | CFTR | c.1687T>G (p.Tyr563Asp) c.*1401T>G (n.*1401T>G) c.1504T>G (p.Tyr502Asp) c.1682T>G (p.Ile561Arg) c.*1511T>G (n.*1511T>G) c.1261T>G (p.Tyr421Asp) c.1402-12466T>G (n.1402-12466T>G) c.1597T>G (p.Tyr533Asp) c.1777T>G (p.Tyr593Asp) c.1444T>G (p.Tyr482Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117590360T>C | CA368977018 | CFTR | c.1687T>C (p.Tyr563His) c.*1401T>C (n.*1401T>C) c.1504T>C (p.Tyr502His) c.1682T>C (p.Ile561Thr) c.*1511T>C (n.*1511T>C) c.1261T>C (p.Tyr421His) c.1402-12466T>C (n.1402-12466T>C) c.1597T>C (p.Tyr533His) c.1777T>C (p.Tyr593His) c.1444T>C (p.Tyr482His) | ClinVar dbSNP |
| 7 | g.117590360T>A | CA325520 | CFTR | c.1687T>A (p.Tyr563Asn) c.*1401T>A (n.*1401T>A) c.1504T>A (p.Tyr502Asn) c.1682T>A (p.Ile561Lys) c.*1511T>A (n.*1511T>A) c.1261T>A (p.Tyr421Asn) c.1402-12466T>A (n.1402-12466T>A) c.1597T>A (p.Tyr533Asn) c.1777T>A (p.Tyr593Asn) c.1444T>A (p.Tyr482Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |