| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154533025A>G | CA120992 | G6PD | c.968T>C (p.Leu323Pro) c.971T>C (p.Leu324Pro) c.831T>C c.834T>C c.820T>C (n.820T>C) c.865-223T>C (n.865-223T>C) c.*428T>C (n.*428T>C) c.975T>C (p.Pro325=) c.*810T>C (n.*810T>C) c.1106T>C (p.Leu369Pro) c.1058T>C (p.Leu353Pro) n.50T>C c.1061T>C (p.Leu354Pro) c.958-223T>C (n.958-223T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533025A= | CA2466723594 | G6PD | c.968T= (p.Leu323=) c.971T= (p.Leu324=) c.831T= c.834T= c.820T= (n.820T=) c.865-223T= (n.865-223T=) c.*428T= (n.*428T=) c.975T= (p.Pro325=) c.*810T= (n.*810T=) c.1106T= (p.Leu369=) c.1058T= (p.Leu353=) n.50T= c.1061T= (p.Leu354=) c.958-223T= (n.958-223T=) | dbSNP |