| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534438G>A | CA033252 | G6PD | c.544C>T (p.Arg182Trp) c.547C>T (p.Arg183Trp) c.407C>T c.410C>T c.424C>T (p.Arg142Trp) c.*386C>T (n.*386C>T) c.634C>T (p.Arg212Trp) c.637C>T (p.Arg213Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534438G= | CA2466724187 | G6PD | c.544C= (p.Arg182=) c.547C= (p.Arg183=) c.407C= c.410C= c.424C= (p.Arg142=) c.*386C= (n.*386C=) c.634C= (p.Arg212=) c.637C= (p.Arg213=) | dbSNP |