Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.32829016G>A | CA3745745 | TAP2 | n.5880C>T c.1951C>T (p.Arg651Cys) c.1762C>T (p.Arg588Cys) c.1984C>T (p.Arg662Cys) c.1945C>T (p.Arg649Cys) c.1932+384C>T (n.1932+384C>T) n.777C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32829016G= | CA1619753325 | TAP2 | n.5880C= c.1951C= (p.Arg651=) c.1762C= (p.Arg588=) c.1984C= (p.Arg662=) c.1945C= (p.Arg649=) c.1932+384C= (n.1932+384C=) n.777C= | dbSNP |