| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.95067273C>T | CA5617795 | CYP2C8 | c.416G>A (p.Arg139Lys) n.720G>A c.*202G>A (n.*202G>A) c.291G>A (p.Glu97=) n.671G>A n.650G>A c.110G>A (p.Arg37Lys) c.206G>A (p.Arg69Lys) c.158G>A (p.Arg53Lys) n.512G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95067273C>A | CA211730615 | CYP2C8 | c.416G>T (p.Arg139Met) n.720G>T c.*202G>T (n.*202G>T) c.291G>T (p.Glu97Asp) n.671G>T n.650G>T c.110G>T (p.Arg37Met) c.206G>T (p.Arg69Met) c.158G>T (p.Arg53Met) n.512G>T | dbSNP |
| 10 | g.95067273C= | CA1929388272 | CYP2C8 | c.416G= (p.Arg139=) n.720G= c.*202G= (n.*202G=) c.291G= (p.Glu97=) n.671G= n.650G= c.110G= (p.Arg37=) c.206G= (p.Arg69=) c.158G= (p.Arg53=) n.512G= | dbSNP |
| 10 | g.95067273C>G | CA377682964 | CYP2C8 | c.416G>C (p.Arg139Thr) n.720G>C c.*202G>C (n.*202G>C) c.291G>C (p.Glu97Asp) n.671G>C n.650G>C c.110G>C (p.Arg37Thr) c.206G>C (p.Arg69Thr) c.158G>C (p.Arg53Thr) n.512G>C | dbSNP |