| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233682324T>G | CA2178266 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44947T>G (n.855+44947T>G) c.387T>G (p.Asn129Lys) c.855+63762T>G (n.855+63762T>G) c.855+9535T>G (n.855+9535T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233682324T>A | CA351085476 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44947T>A (n.855+44947T>A) c.387T>A (p.Asn129Lys) c.855+63762T>A (n.855+63762T>A) c.855+9535T>A (n.855+9535T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233682324T= | CA1335855946 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44947T= (n.855+44947T=) c.387T= (p.Asn129=) c.855+63762T= (n.855+63762T=) c.855+9535T= (n.855+9535T=) | dbSNP |