| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534125C>A | CA120990 | G6PD | c.680G>T (p.Arg227Leu) c.683G>T (p.Arg228Leu) c.543G>T c.546G>T c.560G>T (p.Arg187Leu) c.*522G>T (n.*522G>T) c.770G>T (p.Arg257Leu) n.69G>T c.773G>T (p.Arg258Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534125C>T | CA121004 | G6PD | c.680G>A (p.Arg227Gln) c.683G>A (p.Arg228Gln) c.543G>A c.546G>A c.560G>A (p.Arg187Gln) c.*522G>A (n.*522G>A) c.770G>A (p.Arg257Gln) n.69G>A c.773G>A (p.Arg258Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534125C= | CA2466724026 | G6PD | c.680G= (p.Arg227=) c.683G= (p.Arg228=) c.543G= c.546G= c.560G= (p.Arg187=) c.*522G= (n.*522G=) c.770G= (p.Arg257=) n.69G= c.773G= (p.Arg258=) | dbSNP |