| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124398057A>C | CA378633188 | OAT | c.1205T>G (p.Leu402Arg) n.715T>G c.791T>G (p.Leu264Arg) c.884T>G (p.Leu295Arg) c.605T>G (p.Leu202Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398057A>G | CA113940 | OAT | c.1205T>C (p.Leu402Pro) n.715T>C c.791T>C (p.Leu264Pro) c.884T>C (p.Leu295Pro) c.605T>C (p.Leu202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |