Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124401746C>T | CA113959 | OAT | c.994G>A (p.Val332Met) n.795G>A n.504G>A c.580G>A (p.Val194Met) c.673G>A (p.Val225Met) c.394G>A (p.Val132Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124401746C= | CA1942337391 | OAT | c.994G= (p.Val332=) n.795G= n.504G= c.580G= (p.Val194=) c.673G= (p.Val225=) c.394G= (p.Val132=) | dbSNP |