Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117509102dup | CA326794 | CFTR | c.233dup (p.Trp79LeufsTer?) c.*130dup (n.*130dup) c.*57dup (n.*57dup) c.-11dup (n.-11dup) n.317dup n.390dup c.323dup (p.Trp109LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117509102del | CA326795 | CFTR | c.233del (p.Phe78SerfsTer13) c.*130del (n.*130del) c.*57del (n.*57del) c.-11del (n.-11del) n.317del n.390del c.323del (p.Phe108SerfsTer13) | ClinVar dbSNP gnomAD v4 |