| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124398081C>T | CA144137 | OAT | c.1181G>A (p.Cys394Tyr) n.691G>A c.767G>A (p.Cys256Tyr) c.860G>A (p.Cys287Tyr) c.581G>A (p.Cys194Tyr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124398081C= | CA1942335691 | OAT | c.1181G= (p.Cys394=) n.691G= c.767G= (p.Cys256=) c.860G= (p.Cys287=) c.581G= (p.Cys194=) | dbSNP |