| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117594930G>T | CA345311 | CFTR | c.2491G>T (p.Glu831Ter) c.*2205G>T (n.*2205G>T) c.2308G>T (p.Glu770Ter) c.*791G>T (n.*791G>T) c.*2315G>T (n.*2315G>T) c.2065G>T (p.Glu689Ter) c.82G>T (p.Glu28Ter) c.141G>T c.1402-7896G>T (n.1402-7896G>T) c.2401G>T (p.Glu801Ter) c.2581G>T (p.Glu861Ter) c.2248G>T (p.Glu750Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117594930G= | CA1737397649 | CFTR | c.2491G= (p.Glu831=) c.*2205G= (n.*2205G=) c.2308G= (p.Glu770=) c.*791G= (n.*791G=) c.*2315G= (n.*2315G=) c.2065G= (p.Glu689=) c.82G= (p.Glu28=) c.141G= c.1402-7896G= (n.1402-7896G=) c.2401G= (p.Glu801=) c.2581G= (p.Glu861=) c.2248G= (p.Glu750=) | dbSNP |