| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.75172532G>A | CA6188232 | SLCO2B1 | c.935G>A (p.Arg312Gln) c.869G>A (p.Arg290Gln) c.254G>A (p.Arg85Gln) c.503G>A (p.Arg168Gln) n.447G>A n.482G>A c.587G>A (p.Arg196Gln) c.941G>A (p.Arg314Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75172532G>T | CA381870256 | SLCO2B1 | c.935G>T (p.Arg312Leu) c.869G>T (p.Arg290Leu) c.254G>T (p.Arg85Leu) c.503G>T (p.Arg168Leu) n.447G>T n.482G>T c.587G>T (p.Arg196Leu) c.941G>T (p.Arg314Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75172532G= | CA1983207134 | SLCO2B1 | c.935G= (p.Arg312=) c.869G= (p.Arg290=) c.254G= (p.Arg85=) c.503G= (p.Arg168=) n.447G= n.482G= c.587G= (p.Arg196=) c.941G= (p.Arg314=) | dbSNP |