| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559587A>C | CA326519 | CFTR,CFTR-AS1 | c.1516A>C (p.Ile506Leu) c.*1230A>C (n.*1230A>C) c.1333A>C (p.Ile445Leu) c.*74A>C (n.*74A>C) c.*1340A>C (n.*1340A>C) c.1090A>C (p.Ile364Leu) c.1426A>C (p.Ile476Leu) c.1606A>C (p.Ile536Leu) c.1273A>C (p.Ile425Leu) n.221+1146T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117559587A>G | CA254110 | CFTR,CFTR-AS1 | c.1516A>G (p.Ile506Val) c.*1230A>G (n.*1230A>G) c.1333A>G (p.Ile445Val) c.*74A>G (n.*74A>G) c.*1340A>G (n.*1340A>G) c.1090A>G (p.Ile364Val) c.1426A>G (p.Ile476Val) c.1606A>G (p.Ile536Val) c.1273A>G (p.Ile425Val) n.221+1146T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |