| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124398090C>T | CA113984 | OAT | c.1172G>A (p.Trp391Ter) n.682G>A c.758G>A (p.Trp253Ter) c.851G>A (p.Trp284Ter) c.572G>A (p.Trp191Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124398090C= | CA1942335695 | OAT | c.1172G= (p.Trp391=) n.682G= c.758G= (p.Trp253=) c.851G= (p.Trp284=) c.572G= (p.Trp191=) | dbSNP |
| 10 | g.124398090C>A | CA378633250 | OAT | c.1172G>T (p.Trp391Leu) n.682G>T c.758G>T (p.Trp253Leu) c.851G>T (p.Trp284Leu) c.572G>T (p.Trp191Leu) | dbSNP gnomAD v4 |