| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117595040dup | CA326861 | CFTR | c.2601dup (p.Val868SerfsTer28) c.*2315dup (n.*2315dup) c.2418dup (p.Val807SerfsTer28) c.*901dup (n.*901dup) c.*2425dup (n.*2425dup) c.2175dup (p.Val726SerfsTer28) c.192dup (p.Val65SerfsTer28) c.251dup c.1402-7786dup (n.1402-7786dup) c.2511dup (p.Val838SerfsTer28) c.2691dup (p.Val898SerfsTer28) c.2358dup (p.Val787SerfsTer28) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117595040A= | CA3146045894 | CFTR | c.2601A= (p.Leu867=) c.*2315A= (n.*2315A=) c.2418A= (p.Leu806=) c.*901A= (n.*901A=) c.*2425A= (n.*2425A=) c.2175A= (p.Leu725=) c.192A= (p.Leu64=) c.251A= c.1402-7786A= (n.1402-7786A=) c.2511A= (p.Leu837=) c.2691A= (p.Leu897=) c.2358A= (p.Leu786=) | dbSNP |