| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587805G>A | CA325536 | CFTR | c.1651G>A (p.Gly551Ser) c.*1365G>A (n.*1365G>A) c.1468G>A (p.Gly490Ser) c.*1475G>A (n.*1475G>A) c.1225G>A (p.Gly409Ser) c.1402-15021G>A (n.1402-15021G>A) c.1561G>A (p.Gly521Ser) c.1741G>A (p.Gly581Ser) c.1408G>A (p.Gly470Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117587805G= | CA1737390517 | CFTR | c.1651G= (p.Gly551=) c.*1365G= (n.*1365G=) c.1468G= (p.Gly490=) c.*1475G= (n.*1475G=) c.1225G= (p.Gly409=) c.1402-15021G= (n.1402-15021G=) c.1561G= (p.Gly521=) c.1741G= (p.Gly581=) c.1408G= (p.Gly470=) | dbSNP |