| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587806G>A | CA340634 | CFTR | c.1652G>A (p.Gly551Asp) c.*1366G>A (n.*1366G>A) c.1469G>A (p.Gly490Asp) c.*1476G>A (n.*1476G>A) c.1226G>A (p.Gly409Asp) c.1402-15020G>A (n.1402-15020G>A) c.1562G>A (p.Gly521Asp) c.1742G>A (p.Gly581Asp) c.1409G>A (p.Gly470Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587806G>T | CA368976106 | CFTR | c.1652G>T (p.Gly551Val) c.*1366G>T (n.*1366G>T) c.1469G>T (p.Gly490Val) c.*1476G>T (n.*1476G>T) c.1226G>T (p.Gly409Val) c.1402-15020G>T (n.1402-15020G>T) c.1562G>T (p.Gly521Val) c.1742G>T (p.Gly581Val) c.1409G>T (p.Gly470Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117587806G= | CA1737390524 | CFTR | c.1652G= (p.Gly551=) c.*1366G= (n.*1366G=) c.1469G= (p.Gly490=) c.*1476G= (n.*1476G=) c.1226G= (p.Gly409=) c.1402-15020G= (n.1402-15020G=) c.1562G= (p.Gly521=) c.1742G= (p.Gly581=) c.1409G= (p.Gly470=) | dbSNP |