| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540230C>T | CA340644 | CFTR | c.1000C>T (p.Arg334Trp) c.*897C>T (n.*897C>T) c.*824C>T (n.*824C>T) c.757C>T (p.Arg253Trp) c.910C>T (p.Arg304Trp) c.1090C>T (p.Arg364Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540230C= | CA1737332096 | CFTR | c.1000C= (p.Arg334=) c.*897C= (n.*897C=) c.*824C= (n.*824C=) c.757C= (p.Arg253=) c.910C= (p.Arg304=) c.1090C= (p.Arg364=) | dbSNP |