| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592310C>T | CA326751 | CFTR | c.2143C>T (p.Gln715Ter) c.*1857C>T (n.*1857C>T) c.1960C>T (p.Gln654Ter) c.*443C>T (n.*443C>T) c.*1967C>T (n.*1967C>T) c.1717C>T (p.Gln573Ter) c.1402-10516C>T (n.1402-10516C>T) c.2053C>T (p.Gln685Ter) c.2233C>T (p.Gln745Ter) c.1900C>T (p.Gln634Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592310C= | CA1737394868 | CFTR | c.2143C= (p.Gln715=) c.*1857C= (n.*1857C=) c.1960C= (p.Gln654=) c.*443C= (n.*443C=) c.*1967C= (n.*1967C=) c.1717C= (p.Gln573=) c.1402-10516C= (n.1402-10516C=) c.2053C= (p.Gln685=) c.2233C= (p.Gln745=) c.1900C= (p.Gln634=) | dbSNP |
| 7 | g.117592310C>G | CA368980001 | CFTR | c.2143C>G (p.Gln715Glu) c.*1857C>G (n.*1857C>G) c.1960C>G (p.Gln654Glu) c.*443C>G (n.*443C>G) c.*1967C>G (n.*1967C>G) c.1717C>G (p.Gln573Glu) c.1402-10516C>G (n.1402-10516C>G) c.2053C>G (p.Gln685Glu) c.2233C>G (p.Gln745Glu) c.1900C>G (p.Gln634Glu) | ClinVar dbSNP |