| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168990902A>G | CA1951788 | ABCB11 | c.807T>C (p.Tyr269=) c.849T>C (p.Tyr283=) c.909T>C (p.Tyr303=) c.138T>C (p.Tyr46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.168990902A>C | CA349125751 | ABCB11 | c.807T>G (p.Tyr269Ter) c.849T>G (p.Tyr283Ter) c.909T>G (p.Tyr303Ter) c.138T>G (p.Tyr46Ter) | ClinVar dbSNP |
| 2 | g.168990902A>T | CA349125753 | ABCB11 | c.807T>A (p.Tyr269Ter) c.849T>A (p.Tyr283Ter) c.909T>A (p.Tyr303Ter) c.138T>A (p.Tyr46Ter) | dbSNP |
| 2 | g.168990902A= | CA1306237789 | ABCB11 | c.807T= (p.Tyr269=) c.849T= (p.Tyr283=) c.909T= (p.Tyr303=) c.138T= (p.Tyr46=) | dbSNP |