| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534390G>A | CA120998 | G6PD | c.592C>T (p.Arg198Cys) c.595C>T (p.Arg199Cys) c.455C>T c.458C>T c.472C>T (p.Arg158Cys) c.*434C>T (n.*434C>T) c.682C>T (p.Arg228Cys) c.685C>T (p.Arg229Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534390G>T | CA415237855 | G6PD | c.592C>A (p.Arg198Ser) c.595C>A (p.Arg199Ser) c.455C>A c.458C>A c.472C>A (p.Arg158Ser) c.*434C>A (n.*434C>A) c.682C>A (p.Arg228Ser) c.685C>A (p.Arg229Ser) | ClinVar dbSNP |
| X | g.154534390G= | CA2466724151 | G6PD | c.592C= (p.Arg198=) c.595C= (p.Arg199=) c.455C= c.458C= c.472C= (p.Arg158=) c.*434C= (n.*434C=) c.682C= (p.Arg228=) c.685C= (p.Arg229=) | dbSNP |