| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117594990C>T | CA340645 | CFTR | c.2551C>T (p.Arg851Ter) c.*2265C>T (n.*2265C>T) c.2368C>T (p.Arg790Ter) c.*851C>T (n.*851C>T) c.*2375C>T (n.*2375C>T) c.2125C>T (p.Arg709Ter) c.142C>T (p.Arg48Ter) c.201C>T c.1402-7836C>T (n.1402-7836C>T) c.2461C>T (p.Arg821Ter) c.2641C>T (p.Arg881Ter) c.2308C>T (p.Arg770Ter) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117594990C>A | CA457227587 | CFTR | c.2551C>A (p.Arg851=) c.*2265C>A (n.*2265C>A) c.2368C>A (p.Arg790=) c.*851C>A (n.*851C>A) c.*2375C>A (n.*2375C>A) c.2125C>A (p.Arg709=) c.142C>A (p.Arg48=) c.201C>A c.1402-7836C>A (n.1402-7836C>A) c.2461C>A (p.Arg821=) c.2641C>A (p.Arg881=) c.2308C>A (p.Arg770=) | dbSNP gnomAD v4 |
| 7 | g.117594990C= | CA1737397791 | CFTR | c.2551C= (p.Arg851=) c.*2265C= (n.*2265C=) c.2368C= (p.Arg790=) c.*851C= (n.*851C=) c.*2375C= (n.*2375C=) c.2125C= (p.Arg709=) c.142C= (p.Arg48=) c.201C= c.1402-7836C= (n.1402-7836C=) c.2461C= (p.Arg821=) c.2641C= (p.Arg881=) c.2308C= (p.Arg770=) | dbSNP |