Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.21861017T>A | CA16607204 | ABCC9 | c.2378A>T (p.Asp793Val) c.*1476A>T (n.*1476A>T) n.2684A>T c.1259A>T (p.Asp420Val) c.2339A>T (p.Asp780Val) c.2237A>T (p.Asp746Val) c.1511A>T (p.Asp504Val) | ClinVar dbSNP |
12 | g.21861017T= | CA2021305851 | ABCC9 | c.2378A= (p.Asp793=) c.*1476A= (n.*1476A=) n.2684A= c.1259A= (p.Asp420=) c.2339A= (p.Asp780=) c.2237A= (p.Asp746=) c.1511A= (p.Asp504=) | dbSNP |