| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117606753G>A | CA221019 | CFTR | c.2988G>A (p.Gln996=) c.*2702G>A (n.*2702G>A) c.2805G>A (p.Gln935=) c.*1288G>A (n.*1288G>A) c.*2812G>A (n.*2812G>A) c.2562G>A (p.Gln854=) c.579G>A (p.Gln193=) c.638G>A c.1770G>A (p.Gln590=) c.2898G>A (p.Gln966=) c.3078G>A (p.Gln1026=) c.2745G>A (p.Gln915=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117606753G= | CA1737379824 | CFTR | c.2988G= (p.Gln996=) c.*2702G= (n.*2702G=) c.2805G= (p.Gln935=) c.*1288G= (n.*1288G=) c.*2812G= (n.*2812G=) c.2562G= (p.Gln854=) c.579G= (p.Gln193=) c.638G= c.1770G= (p.Gln590=) c.2898G= (p.Gln966=) c.3078G= (p.Gln1026=) c.2745G= (p.Gln915=) | dbSNP |