Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124405488G>T | CA114019 | OAT | c.596C>A (p.Pro199Gln) n.397C>A n.442C>A c.182C>A (p.Pro61Gln) c.275C>A (p.Pro92Gln) c.-5C>A (n.-5C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124405488G= | CA1942339079 | OAT | c.596C= (p.Pro199=) n.397C= n.442C= c.182C= (p.Pro61=) c.275C= (p.Pro92=) c.-5C= (n.-5C=) | dbSNP |