| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592220C>T | CA326740 | CFTR | c.2053C>T (p.Gln685Ter) c.*1767C>T (n.*1767C>T) c.1870C>T (p.Gln624Ter) c.*353C>T (n.*353C>T) c.*1877C>T (n.*1877C>T) c.1627C>T (p.Gln543Ter) c.1402-10606C>T (n.1402-10606C>T) c.1963C>T (p.Gln655Ter) c.2143C>T (p.Gln715Ter) c.1810C>T (p.Gln604Ter) | ClinVar dbSNP |
| 7 | g.117592220C= | CA1737394648 | CFTR | c.2053C= (p.Gln685=) c.*1767C= (n.*1767C=) c.1870C= (p.Gln624=) c.*353C= (n.*353C=) c.*1877C= (n.*1877C=) c.1627C= (p.Gln543=) c.1402-10606C= (n.1402-10606C=) c.1963C= (p.Gln655=) c.2143C= (p.Gln715=) c.1810C= (p.Gln604=) | dbSNP dbSNP |