| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.28529157C>T | CA119892 | FOXN1 | c.763C>T (p.Arg255Ter) c.*1196-73048G>A (n.*1196-73048G>A) c.820C>T (p.Arg274Ter) c.817C>T (p.Arg273Ter) c.799C>T (p.Arg267Ter) c.766C>T (p.Arg256Ter) c.298C>T (p.Arg100Ter) c.220C>T (p.Arg74Ter) c.205C>T (p.Arg69Ter) c.127C>T (p.Arg43Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.28529157C>A | CA499088146 | FOXN1 | c.763C>A (p.Arg255=) c.*1196-73048G>T (n.*1196-73048G>T) c.820C>A (p.Arg274=) c.817C>A (p.Arg273=) c.799C>A (p.Arg267=) c.766C>A (p.Arg256=) c.298C>A (p.Arg100=) c.220C>A (p.Arg74=) c.205C>A (p.Arg69=) c.127C>A (p.Arg43=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.28529157C= | CA2254345689 | FOXN1 | c.763C= (p.Arg255=) c.*1196-73048G= (n.*1196-73048G=) c.820C= (p.Arg274=) c.817C= (p.Arg273=) c.799C= (p.Arg267=) c.766C= (p.Arg256=) c.298C= (p.Arg100=) c.220C= (p.Arg74=) c.205C= (p.Arg69=) c.127C= (p.Arg43=) | dbSNP |