| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154533029A>G | CA121049 | G6PD | c.964T>C (p.Tyr322His) c.967T>C (p.Tyr323His) c.827T>C c.830T>C c.816T>C (n.816T>C) c.865-227T>C (n.865-227T>C) c.*424T>C (n.*424T>C) c.971T>C (p.Val324Ala) c.*806T>C (n.*806T>C) c.1102T>C (p.Tyr368His) c.1054T>C (p.Tyr352His) n.46T>C c.1057T>C (p.Tyr353His) c.958-227T>C (n.958-227T>C) | ClinVar dbSNP |
| X | g.154533029A= | CA2466723595 | G6PD | c.964T= (p.Tyr322=) c.967T= (p.Tyr323=) c.827T= c.830T= c.816T= (n.816T=) c.865-227T= (n.865-227T=) c.*424T= (n.*424T=) c.971T= (p.Val324=) c.*806T= (n.*806T=) c.1102T= (p.Tyr368=) c.1054T= (p.Tyr352=) n.46T= c.1057T= (p.Tyr353=) c.958-227T= (n.958-227T=) | dbSNP |