Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117534317dup | CA658683489 | CFTR | c.531dup (p.Gly178TrpfsTer5) c.*428dup (n.*428dup) c.*355dup (n.*355dup) c.288dup (p.Gly97TrpfsTer5) c.490-931dup (n.490-931dup) c.621dup (p.Gly208TrpfsTer5) | ClinVar dbSNP |
7 | g.117534317del | CA328124 | CFTR | c.531del (p.Ile177MetfsTer12) c.*428del (n.*428del) c.*355del (n.*355del) c.288del (p.Ile96MetfsTer12) c.490-931del (n.490-931del) c.621del (p.Ile207MetfsTer12) | ClinVar dbSNP gnomAD v4 |