| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219423817C>T | CA273504 | DES | n.759C>T n.673C>T c.1285C>T (p.Arg429Ter) n.757C>T n.680C>T c.1282C>T (p.Arg428Ter) c.853C>T (p.Arg285Ter) c.1216C>T (p.Arg406Ter) c.1264C>T (p.Arg422Ter) c.1015C>T (p.Arg339Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.219423817C= | CA1329212318 | DES | n.759C= n.673C= c.1285C= (p.Arg429=) n.757C= n.680C= c.1282C= (p.Arg428=) c.853C= (p.Arg285=) c.1216C= (p.Arg406=) c.1264C= (p.Arg422=) c.1015C= (p.Arg339=) | dbSNP |