| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627529C>T | CA327210 | CFTR | c.3476C>T (p.Ser1159Phe) c.*3190C>T (n.*3190C>T) c.3293C>T (p.Ser1098Phe) c.*129C>T (n.*129C>T) c.*137C>T (n.*137C>T) c.*1851C>T (n.*1851C>T) c.3470C>T (p.Ser1157Phe) c.*3300C>T (n.*3300C>T) c.3050C>T (p.Ser1017Phe) c.224C>T (p.Ser75Phe) c.1263C>T (n.1263C>T) c.58C>T c.1126C>T c.2258C>T (p.Ser753Phe) c.3386C>T (p.Ser1129Phe) c.301C>T c.3566C>T (p.Ser1189Phe) c.3233C>T (p.Ser1078Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627529C= | CA1737398604 | CFTR | c.3476C= (p.Ser1159=) c.*3190C= (n.*3190C=) c.3293C= (p.Ser1098=) c.*129C= (n.*129C=) c.*137C= (n.*137C=) c.*1851C= (n.*1851C=) c.3470C= (p.Ser1157=) c.*3300C= (n.*3300C=) c.3050C= (p.Ser1017=) c.224C= (p.Ser75=) c.1263C= (n.1263C=) c.58C= c.1126C= c.2258C= (p.Ser753=) c.3386C= (p.Ser1129=) c.301C= c.3566C= (p.Ser1189=) c.3233C= (p.Ser1078=) | dbSNP |