| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559471T>C | CA342834 | CFTR,CFTR-AS1 | c.1400T>C (p.Leu467Pro) c.*1114T>C (n.*1114T>C) c.1217T>C (p.Leu406Pro) c.1395T>C (p.Thr465=) c.*1224T>C (n.*1224T>C) c.974T>C (p.Leu325Pro) c.1310T>C (p.Leu437Pro) c.1490T>C (p.Leu497Pro) c.1157T>C (p.Leu386Pro) n.221+1262A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559471T= | CA1737384078 | CFTR,CFTR-AS1 | c.1400T= (p.Leu467=) c.*1114T= (n.*1114T=) c.1217T= (p.Leu406=) c.1395T= (p.Thr465=) c.*1224T= (n.*1224T=) c.974T= (p.Leu325=) c.1310T= (p.Leu437=) c.1490T= (p.Leu497=) c.1157T= (p.Leu386=) n.221+1262A= | dbSNP |