| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532772G>A | CA121039 | G6PD | c.1082C>T (p.Ala361Val) c.1085C>T (p.Ala362Val) c.945C>T c.948C>T c.934C>T (n.934C>T) c.895C>T (p.Pro299Ser) c.*542C>T (n.*542C>T) c.*42C>T (n.*42C>T) c.*924C>T (n.*924C>T) c.1220C>T (p.Ala407Val) c.1172C>T (p.Ala391Val) n.303C>T c.1175C>T (p.Ala392Val) c.988C>T (p.Pro330Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.154532772G= | CA2466723478 | G6PD | c.1082C= (p.Ala361=) c.1085C= (p.Ala362=) c.945C= c.948C= c.934C= (n.934C=) c.895C= (p.Pro299=) c.*542C= (n.*542C=) c.*42C= (n.*42C=) c.*924C= (n.*924C=) c.1220C= (p.Ala407=) c.1172C= (p.Ala391=) n.303C= c.1175C= (p.Ala392=) c.988C= (p.Pro330=) | dbSNP |