| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592032G>A | CA326704 | CFTR | c.1865G>A (p.Gly622Asp) c.*1579G>A (n.*1579G>A) c.1682G>A (p.Gly561Asp) c.*165G>A (n.*165G>A) c.*1689G>A (n.*1689G>A) c.1439G>A (p.Gly480Asp) c.1402-10794G>A (n.1402-10794G>A) c.1775G>A (p.Gly592Asp) c.1955G>A (p.Gly652Asp) c.1622G>A (p.Gly541Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592032G= | CA1737394048 | CFTR | c.1865G= (p.Gly622=) c.*1579G= (n.*1579G=) c.1682G= (p.Gly561=) c.*165G= (n.*165G=) c.*1689G= (n.*1689G=) c.1439G= (p.Gly480=) c.1402-10794G= (n.1402-10794G=) c.1775G= (p.Gly592=) c.1955G= (p.Gly652=) c.1622G= (p.Gly541=) | dbSNP |