| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31271324G>T | CA3710781 | HLA-C | c.368C>A (p.Ser123Tyr) c.351C>A (p.Val117=) c.366C>A n.637C>A n.727C>A n.557C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31271324G>C | CA3710783 | HLA-C | c.368C>G (p.Ser123Cys) c.351C>G (p.Val117=) c.366C>G n.637C>G n.727C>G n.557C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.31271324G>A | CA3710782 | HLA-C | c.368C>T (p.Ser123Phe) c.351C>T (p.Val117=) c.366C>T n.637C>T n.727C>T n.557C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |