| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559644C>T | CA326532 | CFTR,CFTR-AS1 | c.1573C>T (p.Gln525Ter) c.*1287C>T (n.*1287C>T) c.1390C>T (p.Gln464Ter) c.*131C>T (n.*131C>T) c.*1397C>T (n.*1397C>T) c.1147C>T (p.Gln383Ter) c.1483C>T (p.Gln495Ter) n.7C>T c.1663C>T (p.Gln555Ter) c.1330C>T (p.Gln444Ter) n.221+1089G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559644C= | CA1737384899 | CFTR,CFTR-AS1 | c.1573C= (p.Gln525=) c.*1287C= (n.*1287C=) c.1390C= (p.Gln464=) c.*131C= (n.*131C=) c.*1397C= (n.*1397C=) c.1147C= (p.Gln383=) c.1483C= (p.Gln495=) n.7C= c.1663C= (p.Gln555=) c.1330C= (p.Gln444=) n.221+1089G= | dbSNP |