| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168990819T>C | CA253878 | ABCB11 | c.890A>G (p.Glu297Gly) c.932A>G (p.Glu311Gly) c.992A>G (p.Glu331Gly) c.221A>G (p.Glu74Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.168990819T= | CA1306237636 | ABCB11 | c.890A= (p.Glu297=) c.932A= (p.Glu311=) c.992A= (p.Glu331=) c.221A= (p.Glu74=) | dbSNP |