| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154536002C>T | CA090913 | G6PD | c.202G>A (p.Val68Met) c.82G>A c.82G>A (p.Val28Met) c.*44G>A (n.*44G>A) c.292G>A (p.Val98Met) n.156G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154536002C= | CA2466724817 | G6PD | c.202G= (p.Val68=) c.82G= c.82G= (p.Val28=) c.*44G= (n.*44G=) c.292G= (p.Val98=) n.156G= | dbSNP |