| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532797G>A | CA120986 | G6PD | c.1057C>T (p.Pro353Ser) c.1060C>T (p.Pro354Ser) c.920C>T c.923C>T c.909C>T (n.909C>T) c.870C>T (p.Cys290=) c.*517C>T (n.*517C>T) c.*17C>T (n.*17C>T) c.*899C>T (n.*899C>T) c.1195C>T (p.Pro399Ser) c.1147C>T (p.Pro383Ser) n.278C>T c.1150C>T (p.Pro384Ser) c.963C>T (p.Cys321=) | ClinVar dbSNP gnomAD v4 |
| X | g.154532797G= | CA2466723488 | G6PD | c.1057C= (p.Pro353=) c.1060C= (p.Pro354=) c.920C= c.923C= c.909C= (n.909C=) c.870C= (p.Cys290=) c.*517C= (n.*517C=) c.*17C= (n.*17C=) c.*899C= (n.*899C=) c.1195C= (p.Pro399=) c.1147C= (p.Pro383=) n.278C= c.1150C= (p.Pro384=) c.963C= (p.Cys321=) | dbSNP |