| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124405457A>T | CA113994 | OAT | c.627T>A (p.Tyr209Ter) n.428T>A n.473T>A c.213T>A (p.Tyr71Ter) c.306T>A (p.Tyr102Ter) c.27T>A (p.Tyr9Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124405457A>G | CA471762961 | OAT | c.627T>C (p.Tyr209=) n.428T>C n.473T>C c.213T>C (p.Tyr71=) c.306T>C (p.Tyr102=) c.27T>C (p.Tyr9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124405457A>C | CA378636187 | OAT | c.627T>G (p.Tyr209Ter) n.428T>G n.473T>G c.213T>G (p.Tyr71Ter) c.306T>G (p.Tyr102Ter) c.27T>G (p.Tyr9Ter) | ClinVar dbSNP |
| 10 | g.124405457A= | CA1942339066 | OAT | c.627T= (p.Tyr209=) n.428T= n.473T= c.213T= (p.Tyr71=) c.306T= (p.Tyr102=) c.27T= (p.Tyr9=) | dbSNP |