| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.20858546T>C | CA384099193 | SLCO1B3,SLCO1B3-SLCO1B7 | c.334T>C (p.Ser112Pro) n.186T>C c.250T>C (p.Ser84Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.20858546T>G | CA6475135 | SLCO1B3,SLCO1B3-SLCO1B7 | c.334T>G (p.Ser112Ala) n.186T>G c.250T>G (p.Ser84Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20858546T= | CA2020843417 | SLCO1B3,SLCO1B3-SLCO1B7 | c.334T= (p.Ser112=) n.186T= c.250T= (p.Ser84=) | dbSNP |