| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559537C>A | CA328087 | CFTR,CFTR-AS1 | c.1466C>A (p.Ser489Ter) c.*1180C>A (n.*1180C>A) c.1283C>A (p.Ser428Ter) c.*24C>A (n.*24C>A) c.*1290C>A (n.*1290C>A) c.1040C>A (p.Ser347Ter) c.1376C>A (p.Ser459Ter) c.1556C>A (p.Ser519Ter) c.1223C>A (p.Ser408Ter) n.221+1196G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559537C>G | CA368984509 | CFTR,CFTR-AS1 | c.1466C>G (p.Ser489Ter) c.*1180C>G (n.*1180C>G) c.1283C>G (p.Ser428Ter) c.*24C>G (n.*24C>G) c.*1290C>G (n.*1290C>G) c.1040C>G (p.Ser347Ter) c.1376C>G (p.Ser459Ter) c.1556C>G (p.Ser519Ter) c.1223C>G (p.Ser408Ter) n.221+1196G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559537C>T | CA164967713 | CFTR,CFTR-AS1 | c.1466C>T (p.Ser489Leu) c.*1180C>T (n.*1180C>T) c.1283C>T (p.Ser428Leu) c.*24C>T (n.*24C>T) c.*1290C>T (n.*1290C>T) c.1040C>T (p.Ser347Leu) c.1376C>T (p.Ser459Leu) c.1556C>T (p.Ser519Leu) c.1223C>T (p.Ser408Leu) n.221+1196G>A | dbSNP COSMIC |
| 7 | g.117559537C= | CA1737384340 | CFTR,CFTR-AS1 | c.1466C= (p.Ser489=) c.*1180C= (n.*1180C=) c.1283C= (p.Ser428=) c.*24C= (n.*24C=) c.*1290C= (n.*1290C=) c.1040C= (p.Ser347=) c.1376C= (p.Ser459=) c.1556C= (p.Ser519=) c.1223C= (p.Ser408=) n.221+1196G= | dbSNP |