Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31271091C>T | CA3710659 | HLA-C | c.601G>A (p.Glu201Lys) c.*188G>A (n.*188G>A) c.599G>A n.960G>A n.790G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31271091C>G | CA136866370 | HLA-C | c.601G>C (p.Glu201Gln) c.*188G>C (n.*188G>C) c.599G>C n.960G>C n.790G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31271091C>A | CA363324321 | HLA-C | c.601G>T (p.Glu201Ter) c.*188G>T (n.*188G>T) c.599G>T n.960G>T n.790G>T | dbSNP gnomAD v3 gnomAD v4 |