| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627658del | CA327239 | CFTR | c.3517+88del (n.3517+88del) c.*3319del (n.*3319del) c.3422del (p.Asp1141AlafsTer9) c.3605del (p.Asp1202AlafsTer9) c.*258del (n.*258del) c.*266del (n.*266del) c.*1980del (n.*1980del) c.3599del (p.Asp1200AlafsTer9) c.*3429del (n.*3429del) c.3179del (p.Asp1060AlafsTer9) c.353del (p.Asp118AlafsTer9) c.1392del (n.1392del) c.187del c.1167+88del c.2387del (p.Asp796AlafsTer9) c.3515del (p.Asp1172AlafsTer9) c.430del c.3695del (p.Asp1232AlafsTer9) c.3362del (p.Asp1121AlafsTer9) | ClinVar dbSNP |
| 7 | g.117627658A= | CA1737398678 | CFTR | c.3517+88A= (n.3517+88A=) c.*3319A= (n.*3319A=) c.3422A= (p.Asp1141=) c.3605A= (p.Asp1202=) c.*258A= (n.*258A=) c.*266A= (n.*266A=) c.*1980A= (n.*1980A=) c.3599A= (p.Asp1200=) c.*3429A= (n.*3429A=) c.3179A= (p.Asp1060=) c.353A= (p.Asp118=) c.1392A= (n.1392A=) c.187A= c.1167+88A= c.2387A= (p.Asp796=) c.3515A= (p.Asp1172=) c.430A= c.3695A= (p.Asp1232=) c.3362A= (p.Asp1121=) | dbSNP dbSNP |