| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534465A>G | CA121033 | G6PD | c.517T>C (p.Phe173Leu) c.520T>C (p.Phe174Leu) c.380T>C c.383T>C c.397T>C (p.Phe133Leu) c.*359T>C (n.*359T>C) c.607T>C (p.Phe203Leu) c.610T>C (p.Phe204Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534465A= | CA2466724195 | G6PD | c.517T= (p.Phe173=) c.520T= (p.Phe174=) c.380T= c.383T= c.397T= (p.Phe133=) c.*359T= (n.*359T=) c.607T= (p.Phe203=) c.610T= (p.Phe204=) | dbSNP |