Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117594986C>A | CA326841 | CFTR | c.2547C>A (p.Tyr849Ter) c.*2261C>A (n.*2261C>A) c.2364C>A (p.Tyr788Ter) c.*847C>A (n.*847C>A) c.*2371C>A (n.*2371C>A) c.2121C>A (p.Tyr707Ter) c.138C>A (p.Tyr46Ter) c.197C>A c.1402-7840C>A (n.1402-7840C>A) c.2457C>A (p.Tyr819Ter) c.2637C>A (p.Tyr879Ter) c.2304C>A (p.Tyr768Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117594986C>T | CA457227583 | CFTR | c.2547C>T (p.Tyr849=) c.*2261C>T (n.*2261C>T) c.2364C>T (p.Tyr788=) c.*847C>T (n.*847C>T) c.*2371C>T (n.*2371C>T) c.2121C>T (p.Tyr707=) c.138C>T (p.Tyr46=) c.197C>T c.1402-7840C>T (n.1402-7840C>T) c.2457C>T (p.Tyr819=) c.2637C>T (p.Tyr879=) c.2304C>T (p.Tyr768=) | ClinVar dbSNP gnomAD v4 |