| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559548C>T | CA325518 | CFTR,CFTR-AS1 | c.1477C>T (p.Gln493Ter) c.*1191C>T (n.*1191C>T) c.1294C>T (p.Gln432Ter) c.*35C>T (n.*35C>T) c.*1301C>T (n.*1301C>T) c.1051C>T (p.Gln351Ter) c.1387C>T (p.Gln463Ter) c.1567C>T (p.Gln523Ter) c.1234C>T (p.Gln412Ter) n.221+1185G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559548C= | CA1737384422 | CFTR,CFTR-AS1 | c.1477C= (p.Gln493=) c.*1191C= (n.*1191C=) c.1294C= (p.Gln432=) c.*35C= (n.*35C=) c.*1301C= (n.*1301C=) c.1051C= (p.Gln351=) c.1387C= (p.Gln463=) c.1567C= (p.Gln523=) c.1234C= (p.Gln412=) n.221+1185G= | dbSNP |