| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168970131G>A | CA253876 | ABCB11 | c.40C>T (p.Arg14Ter) c.1723C>T (p.Arg575Ter) c.412C>T (n.412C>T) n.461C>T c.1765C>T (p.Arg589Ter) c.1825C>T (p.Arg609Ter) c.49C>T (p.Arg17Ter) c.1054C>T (p.Arg352Ter) c.508C>T (p.Arg170Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.168970131G= | CA1306224836 | ABCB11 | c.40C= (p.Arg14=) c.1723C= (p.Arg575=) c.412C= (n.412C=) n.461C= c.1765C= (p.Arg589=) c.1825C= (p.Arg609=) c.49C= (p.Arg17=) c.1054C= (p.Arg352=) c.508C= (p.Arg170=) | dbSNP |
| 2 | g.168970131G>T | CA429914390 | ABCB11 | c.40C>A (p.Arg14=) c.1723C>A (p.Arg575=) c.412C>A (n.412C>A) n.461C>A c.1765C>A (p.Arg589=) c.1825C>A (p.Arg609=) c.49C>A (p.Arg17=) c.1054C>A (p.Arg352=) c.508C>A (p.Arg170=) | dbSNP gnomAD v4 |