| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117530955C>A | CA327140 | CFTR | c.330C>A (p.Asp110Glu) c.*227C>A (n.*227C>A) c.*154C>A (n.*154C>A) c.87C>A (p.Asp29Glu) c.420C>A (p.Asp140Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530955C>T | CA457448602 | CFTR | c.330C>T (p.Asp110=) c.*227C>T (n.*227C>T) c.*154C>T (n.*154C>T) c.87C>T (p.Asp29=) c.420C>T (p.Asp140=) | ClinVar dbSNP |
| 7 | g.117530955C>G | CA368974391 | CFTR | c.330C>G (p.Asp110Glu) c.*227C>G (n.*227C>G) c.*154C>G (n.*154C>G) c.87C>G (p.Asp29Glu) c.420C>G (p.Asp140Glu) | ClinVar dbSNP |
| 7 | g.117530955C= | CA1737359306 | CFTR | c.330C= (p.Asp110=) c.*227C= (n.*227C=) c.*154C= (n.*154C=) c.87C= (p.Asp29=) c.420C= (p.Asp140=) | dbSNP |