| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421532C>T | CA257646 | DES | n.690C>T n.604C>T c.1216C>T (p.Arg406Trp) n.688C>T n.611C>T c.1213C>T (p.Arg405Trp) c.784C>T (p.Arg262Trp) c.1147C>T (p.Arg383Trp) c.1195C>T (p.Arg399Trp) c.946C>T (p.Arg316Trp) | ClinVar dbSNP |
| 2 | g.219421532C>A | CA431284495 | DES | n.690C>A n.604C>A c.1216C>A (p.Arg406=) n.688C>A n.611C>A c.1213C>A (p.Arg405=) c.784C>A (p.Arg262=) c.1147C>A (p.Arg383=) c.1195C>A (p.Arg399=) c.946C>A (p.Arg316=) | dbSNP gnomAD v4 |
| 2 | g.219421532C= | CA1329211340 | DES | n.690C= n.604C= c.1216C= (p.Arg406=) n.688C= n.611C= c.1213C= (p.Arg405=) c.784C= (p.Arg262=) c.1147C= (p.Arg383=) c.1195C= (p.Arg399=) c.946C= (p.Arg316=) | dbSNP |