| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587800G>A | CA325521 | CFTR | c.1646G>A (p.Ser549Asn) c.*1360G>A (n.*1360G>A) c.1463G>A (p.Ser488Asn) c.*1470G>A (n.*1470G>A) c.1220G>A (p.Ser407Asn) c.1402-15026G>A (n.1402-15026G>A) c.1556G>A (p.Ser519Asn) c.1736G>A (p.Ser579Asn) c.1403G>A (p.Ser468Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587800G>T | CA325522 | CFTR | c.1646G>T (p.Ser549Ile) c.*1360G>T (n.*1360G>T) c.1463G>T (p.Ser488Ile) c.*1470G>T (n.*1470G>T) c.1220G>T (p.Ser407Ile) c.1402-15026G>T (n.1402-15026G>T) c.1556G>T (p.Ser519Ile) c.1736G>T (p.Ser579Ile) c.1403G>T (p.Ser468Ile) | ClinVar dbSNP |