| 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 |