| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532626C>T | CA415233937 | G6PD | c.1228G>A (p.Gly410Ser) c.1231G>A (p.Gly411Ser) c.1091G>A c.1094G>A c.1080G>A (n.1080G>A) c.*141G>A (n.*141G>A) c.*688G>A (n.*688G>A) c.*188G>A (n.*188G>A) c.*1070G>A (n.*1070G>A) c.1366G>A (p.Gly456Ser) c.1318G>A (p.Gly440Ser) n.449G>A c.1321G>A (p.Gly441Ser) | dbSNP |
| X | g.154532626C>A | CA120974 | G6PD | c.1228G>T (p.Gly410Cys) c.1231G>T (p.Gly411Cys) c.1091G>T c.1094G>T c.1080G>T (n.1080G>T) c.*141G>T (n.*141G>T) c.*688G>T (n.*688G>T) c.*188G>T (n.*188G>T) c.*1070G>T (n.*1070G>T) c.1366G>T (p.Gly456Cys) c.1318G>T (p.Gly440Cys) n.449G>T c.1321G>T (p.Gly441Cys) | ClinVar dbSNP |
| X | g.154532626C= | CA2466723427 | G6PD | c.1228G= (p.Gly410=) c.1231G= (p.Gly411=) c.1091G= c.1094G= c.1080G= (n.1080G=) c.*141G= (n.*141G=) c.*688G= (n.*688G=) c.*188G= (n.*188G=) c.*1070G= (n.*1070G=) c.1366G= (p.Gly456=) c.1318G= (p.Gly440=) n.449G= c.1321G= (p.Gly441=) | dbSNP |