Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219421511G>T | CA217032 | DES | n.669G>T n.583G>T c.1195G>T (p.Asp399Tyr) n.667G>T n.590G>T c.1192G>T (p.Asp398Tyr) c.763G>T (p.Asp255Tyr) c.1126G>T (p.Asp376Tyr) c.1174G>T (p.Asp392Tyr) c.925G>T (p.Asp309Tyr) | ClinVar dbSNP |
2 | g.219421511G= | CA1329211331 | DES | n.669G= n.583G= c.1195G= (p.Asp399=) n.667G= n.590G= c.1192G= (p.Asp398=) c.763G= (p.Asp255=) c.1126G= (p.Asp376=) c.1174G= (p.Asp392=) c.925G= (p.Asp309=) | dbSNP |