| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590426G>T | CA345306 | CFTR | c.1753G>T (p.Glu585Ter) c.*1467G>T (n.*1467G>T) c.1570G>T (p.Glu524Ter) c.*53G>T (n.*53G>T) c.*1577G>T (n.*1577G>T) c.1327G>T (p.Glu443Ter) c.1402-12400G>T (n.1402-12400G>T) c.1663G>T (p.Glu555Ter) c.1843G>T (p.Glu615Ter) c.1510G>T (p.Glu504Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117590426G>A | CA368977278 | CFTR | c.1753G>A (p.Glu585Lys) c.*1467G>A (n.*1467G>A) c.1570G>A (p.Glu524Lys) c.*53G>A (n.*53G>A) c.*1577G>A (n.*1577G>A) c.1327G>A (p.Glu443Lys) c.1402-12400G>A (n.1402-12400G>A) c.1663G>A (p.Glu555Lys) c.1843G>A (p.Glu615Lys) c.1510G>A (p.Glu504Lys) | dbSNP gnomAD v2 gnomAD v4 |