| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168932421G>A | CA253881 | ABCB11 | c.1486C>T (p.Arg496Ter) c.3169C>T (p.Arg1057Ter) c.1858C>T (n.1858C>T) c.3211C>T (p.Arg1071Ter) c.3271C>T (p.Arg1091Ter) c.1495C>T (p.Arg499Ter) c.2500C>T (p.Arg834Ter) c.1954C>T (p.Arg652Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.168932421G= | CA1306208140 | ABCB11 | c.1486C= (p.Arg496=) c.3169C= (p.Arg1057=) c.1858C= (n.1858C=) c.3211C= (p.Arg1071=) c.3271C= (p.Arg1091=) c.1495C= (p.Arg499=) c.2500C= (p.Arg834=) c.1954C= (p.Arg652=) | dbSNP |