| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603770del | CA326956 | CFTR | c.2896del (p.Thr966ArgfsTer2) c.*2610del (n.*2610del) c.2713del (p.Thr905ArgfsTer2) c.*1196del (n.*1196del) c.*2720del (n.*2720del) c.2470del (p.Thr824ArgfsTer2) c.487del (p.Thr163ArgfsTer2) c.546del c.1678del (p.Thr560ArgfsTer2) c.2806del (p.Thr936ArgfsTer2) c.2986del (p.Thr996ArgfsTer2) c.2653del (p.Thr885ArgfsTer2) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603770A= | CA3146045899 | CFTR | c.2896A= (p.Thr966=) c.*2610A= (n.*2610A=) c.2713A= (p.Thr905=) c.*1196A= (n.*1196A=) c.*2720A= (n.*2720A=) c.2470A= (p.Thr824=) c.487A= (p.Thr163=) c.546A= c.1678A= (p.Thr560=) c.2806A= (p.Thr936=) c.2986A= (p.Thr996=) c.2653A= (p.Thr885=) | dbSNP dbSNP |