| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534440T>G | CA415238027 | G6PD | c.542A>C (p.Asp181Ala) c.545A>C (p.Asp182Ala) c.405A>C c.408A>C c.422A>C (p.Asp141Ala) c.*384A>C (n.*384A>C) c.632A>C (p.Asp211Ala) c.635A>C (p.Asp212Ala) | dbSNP |
| X | g.154534440T>A | CA130188 | G6PD | c.542A>T (p.Asp181Val) c.545A>T (p.Asp182Val) c.405A>T c.408A>T c.422A>T (p.Asp141Val) c.*384A>T (n.*384A>T) c.632A>T (p.Asp211Val) c.635A>T (p.Asp212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534440T= | CA2466724188 | G6PD | c.542A= (p.Asp181=) c.545A= (p.Asp182=) c.405A= c.408A= c.422A= (p.Asp141=) c.*384A= (n.*384A=) c.632A= (p.Asp211=) c.635A= (p.Asp212=) | dbSNP |