Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31356218C>G | CA363312279 | HLA-B | n.2041G>C c.568G>C (p.Glu190Gln) c.601G>C (p.Glu201Gln) n.443G>C n.834G>C n.578G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31356218C>A | CA3711516 | HLA-B | n.2041G>T c.568G>T (p.Glu190Ter) c.601G>T (p.Glu201Ter) n.443G>T n.834G>T n.578G>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
6 | g.31356218C>T | CA136833719 | HLA-B | n.2041G>A c.568G>A (p.Glu190Lys) c.601G>A (p.Glu201Lys) n.443G>A n.834G>A n.578G>A | dbSNP gnomAD v2 gnomAD v4 |