| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592220dup | CA276116 | CFTR | c.2053dup (p.Gln685ProfsTer4) c.*1767dup (n.*1767dup) c.1870dup (p.Gln624ProfsTer4) c.*353dup (n.*353dup) c.*1877dup (n.*1877dup) c.1627dup (p.Gln543ProfsTer4) c.1402-10606dup (n.1402-10606dup) c.1963dup (p.Gln655ProfsTer4) c.2143dup (p.Gln715ProfsTer4) c.1810dup (p.Gln604ProfsTer4) | 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 |