| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592541C>T | CA326807 | CFTR | c.2374C>T (p.Arg792Ter) c.*2088C>T (n.*2088C>T) c.2191C>T (p.Arg731Ter) c.*674C>T (n.*674C>T) c.*2198C>T (n.*2198C>T) c.1948C>T (p.Arg650Ter) c.24C>T c.1402-10285C>T (n.1402-10285C>T) c.2284C>T (p.Arg762Ter) c.2464C>T (p.Arg822Ter) c.2131C>T (p.Arg711Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592541C>G | CA326806 | CFTR | c.2374C>G (p.Arg792Gly) c.*2088C>G (n.*2088C>G) c.2191C>G (p.Arg731Gly) c.*674C>G (n.*674C>G) c.*2198C>G (n.*2198C>G) c.1948C>G (p.Arg650Gly) c.24C>G c.1402-10285C>G (n.1402-10285C>G) c.2284C>G (p.Arg762Gly) c.2464C>G (p.Arg822Gly) c.2131C>G (p.Arg711Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592541C>A | CA457449914 | CFTR | c.2374C>A (p.Arg792=) c.*2088C>A (n.*2088C>A) c.2191C>A (p.Arg731=) c.*674C>A (n.*674C>A) c.*2198C>A (n.*2198C>A) c.1948C>A (p.Arg650=) c.24C>A c.1402-10285C>A (n.1402-10285C>A) c.2284C>A (p.Arg762=) c.2464C>A (p.Arg822=) c.2131C>A (p.Arg711=) | ClinVar dbSNP |
| 7 | g.117592541C= | CA1737395455 | CFTR | c.2374C= (p.Arg792=) c.*2088C= (n.*2088C=) c.2191C= (p.Arg731=) c.*674C= (n.*674C=) c.*2198C= (n.*2198C=) c.1948C= (p.Arg650=) c.24C= c.1402-10285C= (n.1402-10285C=) c.2284C= (p.Arg762=) c.2464C= (p.Arg822=) c.2131C= (p.Arg711=) | dbSNP |