| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117610654C>T | CA327049 | CFTR | c.3124C>T (p.Gln1042Ter) c.*2838C>T (n.*2838C>T) c.2941C>T (p.Gln981Ter) c.*1424C>T (n.*1424C>T) c.*2948C>T (n.*2948C>T) c.2698C>T (p.Gln900Ter) c.715C>T (p.Gln239Ter) c.774C>T c.1906C>T (p.Gln636Ter) c.3034C>T (p.Gln1012Ter) c.3214C>T (p.Gln1072Ter) c.2881C>T (p.Gln961Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610654C= | CA1737385201 | CFTR | c.3124C= (p.Gln1042=) c.*2838C= (n.*2838C=) c.2941C= (p.Gln981=) c.*1424C= (n.*1424C=) c.*2948C= (n.*2948C=) c.2698C= (p.Gln900=) c.715C= (p.Gln239=) c.774C= c.1906C= (p.Gln636=) c.3034C= (p.Gln1012=) c.3214C= (p.Gln1072=) c.2881C= (p.Gln961=) | dbSNP |