| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117509044dup | CA326655 | CFTR | c.175dup (p.Arg59LysfsTer10) c.*72dup (n.*72dup) c.173dup (p.Ter58=) c.-69dup (n.-69dup) n.259dup n.332dup c.265dup (p.Arg89LysfsTer10) | ClinVar dbSNP |
| 7 | g.117509044A= | CA3146045895 | CFTR | c.175A= (p.Arg59=) c.*72A= (n.*72A=) c.173A= (p.Ter58=) c.-69A= (n.-69A=) n.259A= n.332A= c.265A= (p.Arg89=) | dbSNP dbSNP |