| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.122378544G>A | CA5224750 | PTGS1 | c.323G>A (p.Arg108Gln) c.-5G>A (n.-5G>A) c.206G>A (p.Arg69Gln) c.248G>A (p.Arg83Gln) n.417G>A n.490G>A c.*168G>A (n.*168G>A) c.197G>A (p.Arg66Gln) c.416G>A (p.Arg139Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122378544G= | CA1877495321 | PTGS1 | c.323G= (p.Arg108=) c.-5G= (n.-5G=) c.206G= (p.Arg69=) c.248G= (p.Arg83=) n.417G= n.490G= c.*168G= (n.*168G=) c.197G= (p.Arg66=) c.416G= (p.Arg139=) | dbSNP |