Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.32816899C>A | CA363575787 | HLA-DOB | c.53G>T (p.Arg18Leu) c.12G>T c.1986G>T (p.Pro662=) n.90G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32816899C>T | CA3745676 | HLA-DOB | c.53G>A (p.Arg18Gln) c.12G>A c.1986G>A (p.Pro662=) n.90G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32816899C= | CA1619748519 | HLA-DOB | c.53G= (p.Arg18=) c.12G= c.1986G= (p.Pro662=) n.90G= | dbSNP |
6 | g.32816899C>G | CA363575788 | HLA-DOB | c.53G>C (p.Arg18Pro) c.12G>C c.1986G>C (p.Pro662=) n.90G>C | dbSNP |