| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117610569del | CA327024 | CFTR | c.3039del (p.Tyr1014ThrfsTer9) c.*2753del (n.*2753del) c.2856del (p.Tyr953ThrfsTer9) c.*1339del (n.*1339del) c.*2863del (n.*2863del) c.2613del (p.Tyr872ThrfsTer9) c.630del (p.Tyr211ThrfsTer9) c.689del c.1821del (p.Tyr608ThrfsTer9) c.2949del (p.Tyr984ThrfsTer9) c.3129del (p.Tyr1044ThrfsTer9) c.2796del (p.Tyr933ThrfsTer9) | ClinVar dbSNP |
| 7 | g.117610569dup | CA327023 | CFTR | c.3039dup (p.Tyr1014LeufsTer?) c.*2753dup (n.*2753dup) c.2856dup (p.Tyr953LeufsTer?) c.*1339dup (n.*1339dup) c.*2863dup (n.*2863dup) c.2613dup (p.Tyr872LeufsTer?) c.630dup (p.Tyr211LeufsTer?) c.689dup c.1821dup (p.Tyr608LeufsTer?) c.2949dup (p.Tyr984LeufsTer?) c.3129dup (p.Tyr1044LeufsTer?) c.2796dup (p.Tyr933LeufsTer?) | ClinVar dbSNP |