| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117531034del | CA327397 | CFTR | c.409del (p.Leu137SerfsTer16) c.*306del (n.*306del) c.*233del (n.*233del) c.166del (p.Leu56SerfsTer16) c.499del (p.Leu167SerfsTer16) | ClinVar dbSNP |
| 7 | g.117531034C= | CA3146045907 | CFTR | c.409C= (p.Leu137=) c.*306C= (n.*306C=) c.*233C= (n.*233C=) c.166C= (p.Leu56=) c.499C= (p.Leu167=) | dbSNP dbSNP |