| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124405551C>A | CA378636714 | OAT | c.533G>T (p.Trp178Leu) n.334G>T n.379G>T c.119G>T (p.Trp40Leu) c.212G>T (p.Trp71Leu) c.-68G>T (n.-68G>T) | ClinVar dbSNP |
| 10 | g.124405551C>T | CA114006 | OAT | c.533G>A (p.Trp178Ter) n.334G>A n.379G>A c.119G>A (p.Trp40Ter) c.212G>A (p.Trp71Ter) c.-68G>A (n.-68G>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124405551C>G | CA378636717 | OAT | c.533G>C (p.Trp178Ser) n.334G>C n.379G>C c.119G>C (p.Trp40Ser) c.212G>C (p.Trp71Ser) c.-68G>C (n.-68G>C) | ClinVar dbSNP |