| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124400941C>T | CA113981 | OAT | c.1058G>A (p.Gly353Asp) n.568G>A c.644G>A (p.Gly215Asp) c.737G>A (p.Gly246Asp) c.458G>A (p.Gly153Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124400941C>A | CA378633715 | OAT | c.1058G>T (p.Gly353Val) n.568G>T c.644G>T (p.Gly215Val) c.737G>T (p.Gly246Val) c.458G>T (p.Gly153Val) | dbSNP gnomAD v4 |
| 10 | g.124400941C= | CA1942337034 | OAT | c.1058G= (p.Gly353=) n.568G= c.644G= (p.Gly215=) c.737G= (p.Gly246=) c.458G= (p.Gly153=) | dbSNP |