| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532390G>A | CA200806 | G6PD | c.1360C>T (p.Arg454Cys) c.1363C>T (p.Arg455Cys) c.1223C>T c.1226C>T c.1212C>T (n.1212C>T) c.*273C>T (n.*273C>T) c.*820C>T (n.*820C>T) c.*320C>T (n.*320C>T) c.*1202C>T (n.*1202C>T) c.1498C>T (p.Arg500Cys) c.1450C>T (p.Arg484Cys) n.581C>T c.1453C>T (p.Arg485Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154532390G= | CA2466723341 | G6PD | c.1360C= (p.Arg454=) c.1363C= (p.Arg455=) c.1223C= c.1226C= c.1212C= (n.1212C=) c.*273C= (n.*273C=) c.*820C= (n.*820C=) c.*320C= (n.*320C=) c.*1202C= (n.*1202C=) c.1498C= (p.Arg500=) c.1450C= (p.Arg484=) n.581C= c.1453C= (p.Arg485=) | dbSNP |