| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117614703T>A | CA327194 | CFTR | c.3458T>A (p.Val1153Glu) c.*3172T>A (n.*3172T>A) c.3275T>A (p.Val1092Glu) c.*1833T>A (n.*1833T>A) c.3452T>A (p.Val1151Glu) c.*3282T>A (n.*3282T>A) c.3032T>A (p.Val1011Glu) c.206T>A (p.Val69Glu) c.1049T>A (p.Val350Glu) c.40T>A c.1108T>A c.2240T>A (p.Val747Glu) c.3368T>A (p.Val1123Glu) c.283T>A c.3548T>A (p.Val1183Glu) c.3215T>A (p.Val1072Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117614703T= | CA1737392253 | CFTR | c.3458T= (p.Val1153=) c.*3172T= (n.*3172T=) c.3275T= (p.Val1092=) c.*1833T= (n.*1833T=) c.3452T= (p.Val1151=) c.*3282T= (n.*3282T=) c.3032T= (p.Val1011=) c.206T= (p.Val69=) c.1049T= (p.Val350=) c.40T= c.1108T= c.2240T= (p.Val747=) c.3368T= (p.Val1123=) c.283T= c.3548T= (p.Val1183=) c.3215T= (p.Val1072=) | dbSNP |