| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124403003C>T | CA114010 | OAT | c.824G>A (p.Trp275Ter) n.625G>A n.334G>A c.410G>A (p.Trp137Ter) c.503G>A (p.Trp168Ter) c.224G>A (p.Trp75Ter) | ClinVar dbSNP gnomAD v2 |
| 10 | g.124403003C= | CA1942337933 | OAT | c.824G= (p.Trp275=) n.625G= n.334G= c.410G= (p.Trp137=) c.503G= (p.Trp168=) c.224G= (p.Trp75=) | dbSNP |