| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.9263851G>C | CA575286 | H6PD | c.1358G>C (p.Arg453Pro) c.1391G>C (p.Arg464Pro) c.1385G>C (p.Arg462Pro) c.290G>C (p.Arg97Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.9263851G>A | CA126206 | H6PD | c.1358G>A (p.Arg453Gln) c.1391G>A (p.Arg464Gln) c.1385G>A (p.Arg462Gln) c.290G>A (p.Arg97Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |