| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.75196537C>T | CA6188400 | SLCO2B1 | c.1457C>T (p.Ser486Phe) c.1391C>T (p.Ser464Phe) c.776C>T (p.Ser259Phe) c.1025C>T (p.Ser342Phe) n.263C>T n.284C>T n.1004C>T c.1109C>T (p.Ser370Phe) c.1463C>T (p.Ser488Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196537C= | CA1983218000 | SLCO2B1 | c.1457C= (p.Ser486=) c.1391C= (p.Ser464=) c.776C= (p.Ser259=) c.1025C= (p.Ser342=) n.263C= n.284C= n.1004C= c.1109C= (p.Ser370=) c.1463C= (p.Ser488=) | dbSNP |