| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117509131_117509132del | CA325612 | CFTR | c.262_263del (p.Leu88IlefsTer22) c.*159_*160del (n.*159_*160del) c.*86_*87del (n.*86_*87del) c.19_20del (p.Leu7IlefsTer22) n.346_347del n.419_420del c.352_353del (p.Leu118IlefsTer22) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117509131_117509132dup | CA1737340627 | CFTR | c.262_263dup (p.Leu88PhefsTer4) c.*159_*160dup (n.*159_*160dup) c.*86_*87dup (n.*86_*87dup) c.19_20dup (p.Leu7PhefsTer4) n.346_347dup n.419_420dup c.352_353dup (p.Leu118PhefsTer4) | dbSNP |
| 7 | g.117509132del | CA2578999901 | CFTR | c.263del (p.Leu88TyrfsTer3) c.*160del (n.*160del) c.*87del (n.*87del) c.20del (p.Leu7TyrfsTer3) n.347del n.420del c.353del (p.Leu118TyrfsTer3) | dbSNP gnomAD v4 |