| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43844604A>G | CA1636901 | ABCG8 | c.161A>G (p.Tyr54Cys) n.618A>G c.173A>G (p.Tyr58Cys) c.-56A>G (n.-56A>G) n.663A>G n.677A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43844604A= | CA1630834318 | ABCG8 | c.161A= (p.Tyr54=) n.618A= c.173A= (p.Tyr58=) c.-56A= (n.-56A=) n.663A= n.677A= | dbSNP |