| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540311del | CA325533 | CFTR | c.1081del (p.Trp361GlyfsTer8) c.*978del (n.*978del) c.*905del (n.*905del) c.838del (p.Trp280GlyfsTer8) c.991del (p.Trp331GlyfsTer8) c.1171del (p.Trp391GlyfsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540311T= | CA1737332606 | CFTR | c.1081T= (p.Trp361=) c.*978T= (n.*978T=) c.*905T= (n.*905T=) c.838T= (p.Trp280=) c.991T= (p.Trp331=) c.1171T= (p.Trp391=) | dbSNP dbSNP |