| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219423787C>T | CA217034 | DES | n.729C>T n.643C>T c.1255C>T (p.Pro419Ser) n.727C>T n.650C>T c.1252C>T (p.Pro418Ser) c.823C>T (p.Pro275Ser) c.1186C>T (p.Pro396Ser) c.1234C>T (p.Pro412Ser) c.985C>T (p.Pro329Ser) | ClinVar dbSNP |
| 2 | g.219423787C>A | CA350696531 | DES | n.729C>A n.643C>A c.1255C>A (p.Pro419Thr) n.727C>A n.650C>A c.1252C>A (p.Pro418Thr) c.823C>A (p.Pro275Thr) c.1186C>A (p.Pro396Thr) c.1234C>A (p.Pro412Thr) c.985C>A (p.Pro329Thr) | ClinVar dbSNP |
| 2 | g.219423787C= | CA1329212297 | DES | n.729C= n.643C= c.1255C= (p.Pro419=) n.727C= n.650C= c.1252C= (p.Pro418=) c.823C= (p.Pro275=) c.1186C= (p.Pro396=) c.1234C= (p.Pro412=) c.985C= (p.Pro329=) | dbSNP |