| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124400881C>T | CA144134 | OAT | c.1118G>A (p.Gly373Glu) n.628G>A c.704G>A (p.Gly235Glu) c.797G>A (p.Gly266Glu) c.518G>A (p.Gly173Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124400881C= | CA1942337007 | OAT | c.1118G= (p.Gly373=) n.628G= c.704G= (p.Gly235=) c.797G= (p.Gly266=) c.518G= (p.Gly173=) | dbSNP |