| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559546C>T | CA325551 | CFTR,CFTR-AS1 | c.1475C>T (p.Ser492Phe) c.*1189C>T (n.*1189C>T) c.1292C>T (p.Ser431Phe) c.*33C>T (n.*33C>T) c.*1299C>T (n.*1299C>T) c.1049C>T (p.Ser350Phe) c.1385C>T (p.Ser462Phe) c.1565C>T (p.Ser522Phe) c.1232C>T (p.Ser411Phe) n.221+1187G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117559546C= | CA1737384406 | CFTR,CFTR-AS1 | c.1475C= (p.Ser492=) c.*1189C= (n.*1189C=) c.1292C= (p.Ser431=) c.*33C= (n.*33C=) c.*1299C= (n.*1299C=) c.1049C= (p.Ser350=) c.1385C= (p.Ser462=) c.1565C= (p.Ser522=) c.1232C= (p.Ser411=) n.221+1187G= | dbSNP |