| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33007157G>C | CA449835607 | HLA-DOA | c.672C>G (p.Gly224=) c.*485C>G (n.*485C>G) n.478C>G n.90C>G c.629C>G (p.Ala210Gly) c.582C>G (p.Gly194=) c.390C>G (p.Gly130=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33007157G>A | CA3748989 | HLA-DOA | c.672C>T (p.Gly224=) c.*485C>T (n.*485C>T) n.478C>T n.90C>T c.629C>T (p.Ala210Val) c.582C>T (p.Gly194=) c.390C>T (p.Gly130=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |