| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532989G>A | CA415234443 | G6PD | c.1004C>T (p.Ala335Val) c.1007C>T (p.Ala336Val) c.867C>T c.870C>T c.856C>T (n.856C>T) c.865-187C>T (n.865-187C>T) c.*464C>T (n.*464C>T) c.1011C>T (p.Arg337=) c.*846C>T (n.*846C>T) c.1142C>T (p.Ala381Val) c.1094C>T (p.Ala365Val) n.86C>T c.1097C>T (p.Ala366Val) c.958-187C>T (n.958-187C>T) | dbSNP |
| X | g.154532989G>T | CA415234445 | G6PD | c.1004C>A (p.Ala335Asp) c.1007C>A (p.Ala336Asp) c.867C>A c.870C>A c.856C>A (n.856C>A) c.865-187C>A (n.865-187C>A) c.*464C>A (n.*464C>A) c.1011C>A (p.Arg337=) c.*846C>A (n.*846C>A) c.1142C>A (p.Ala381Asp) c.1094C>A (p.Ala365Asp) n.86C>A c.1097C>A (p.Ala366Asp) c.958-187C>A (n.958-187C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |