Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.32814372G>A | CA3745538 | HLA-DOB | c.591C>T (p.Tyr197=) c.541C>T c.2412C>T (p.Tyr804=) n.628C>T c.*362C>T (n.*362C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32814372G>T | CA363573647 | HLA-DOB | c.591C>A (p.Tyr197Ter) c.541C>A c.2412C>A (p.Tyr804Ter) n.628C>A c.*362C>A (n.*362C>A) | dbSNP gnomAD v4 |
6 | g.32814372G= | CA1619747549 | HLA-DOB | c.591C= (p.Tyr197=) c.541C= c.2412C= (p.Tyr804=) n.628C= c.*362C= (n.*362C=) | dbSNP |