Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124403019C>G | CA113934 | OAT | c.808G>C (p.Ala270Pro) n.609G>C n.318G>C c.394G>C (p.Ala132Pro) c.487G>C (p.Ala163Pro) c.208G>C (p.Ala70Pro) | ClinVar dbSNP gnomAD v4 |
10 | g.124403019C= | CA1942337938 | OAT | c.808G= (p.Ala270=) n.609G= n.318G= c.394G= (p.Ala132=) c.487G= (p.Ala163=) c.208G= (p.Ala70=) | dbSNP |