| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117592457C>T | CA328100 | CFTR | c.2290C>T (p.Arg764Ter) c.*2004C>T (n.*2004C>T) c.2107C>T (p.Arg703Ter) c.*590C>T (n.*590C>T) c.*2114C>T (n.*2114C>T) c.1864C>T (p.Arg622Ter) c.1402-10369C>T (n.1402-10369C>T) c.2200C>T (p.Arg734Ter) c.2380C>T (p.Arg794Ter) c.2047C>T (p.Arg683Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592457C>A | CA457449666 | CFTR | c.2290C>A (p.Arg764=) c.*2004C>A (n.*2004C>A) c.2107C>A (p.Arg703=) c.*590C>A (n.*590C>A) c.*2114C>A (n.*2114C>A) c.1864C>A (p.Arg622=) c.1402-10369C>A (n.1402-10369C>A) c.2200C>A (p.Arg734=) c.2380C>A (p.Arg794=) c.2047C>A (p.Arg683=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592457C= | CA1737395194 | CFTR | c.2290C= (p.Arg764=) c.*2004C= (n.*2004C=) c.2107C= (p.Arg703=) c.*590C= (n.*590C=) c.*2114C= (n.*2114C=) c.1864C= (p.Arg622=) c.1402-10369C= (n.1402-10369C=) c.2200C= (p.Arg734=) c.2380C= (p.Arg794=) c.2047C= (p.Arg683=) | dbSNP |