| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.9264154C>T | CA575372 | H6PD | c.1661C>T (p.Pro554Leu) c.1694C>T (p.Pro565Leu) c.1688C>T (p.Pro563Leu) c.593C>T (p.Pro198Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.9264154C>A | CA575373 | H6PD | c.1661C>A (p.Pro554Gln) c.1694C>A (p.Pro565Gln) c.1688C>A (p.Pro563Gln) c.593C>A (p.Pro198Gln) | dbSNP ExAC |
| 1 | g.9264154C= | CA1140467451 | H6PD | c.1661C= (p.Pro554=) c.1694C= (p.Pro565=) c.1688C= (p.Pro563=) c.593C= (p.Pro198=) | dbSNP |