| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154536156A>G | CA121021 | G6PD | c.143T>C (p.Ile48Thr) c.23T>C c.23T>C (p.Ile8Thr) c.233T>C (p.Ile78Thr) n.97T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154536156A= | CA2466724875 | G6PD | c.143T= (p.Ile48=) c.23T= c.23T= (p.Ile8=) c.233T= (p.Ile78=) n.97T= | dbSNP |