| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124400875C>G | CA113949 | OAT | c.1124G>C (p.Gly375Ala) n.634G>C c.710G>C (p.Gly237Ala) c.803G>C (p.Gly268Ala) c.524G>C (p.Gly175Ala) | ClinVar dbSNP |
| 10 | g.124400875C= | CA1942337005 | OAT | c.1124G= (p.Gly375=) n.634G= c.710G= (p.Gly237=) c.803G= (p.Gly268=) c.524G= (p.Gly175=) | dbSNP |
| 10 | g.124400875C>T | CA378633575 | OAT | c.1124G>A (p.Gly375Glu) n.634G>A c.710G>A (p.Gly237Glu) c.803G>A (p.Gly268Glu) c.524G>A (p.Gly175Glu) | dbSNP gnomAD v4 |