| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532625C>T | CA121010 | G6PD | c.1229G>A (p.Gly410Asp) c.1232G>A (p.Gly411Asp) c.1092G>A c.1095G>A c.1081G>A (n.1081G>A) c.*142G>A (n.*142G>A) c.*689G>A (n.*689G>A) c.*189G>A (n.*189G>A) c.*1071G>A (n.*1071G>A) c.1367G>A (p.Gly456Asp) c.1319G>A (p.Gly440Asp) n.450G>A c.1322G>A (p.Gly441Asp) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.154532625C= | CA2466723426 | G6PD | c.1229G= (p.Gly410=) c.1232G= (p.Gly411=) c.1092G= c.1095G= c.1081G= (n.1081G=) c.*142G= (n.*142G=) c.*689G= (n.*689G=) c.*189G= (n.*189G=) c.*1071G= (n.*1071G=) c.1367G= (p.Gly456=) c.1319G= (p.Gly440=) n.450G= c.1322G= (p.Gly441=) | dbSNP |
| X | g.154532625C>G | CA415233934 | G6PD | c.1229G>C (p.Gly410Ala) c.1232G>C (p.Gly411Ala) c.1092G>C c.1095G>C c.1081G>C (n.1081G>C) c.*142G>C (n.*142G>C) c.*689G>C (n.*689G>C) c.*189G>C (n.*189G>C) c.*1071G>C (n.*1071G>C) c.1367G>C (p.Gly456Ala) c.1319G>C (p.Gly440Ala) n.450G>C c.1322G>C (p.Gly441Ala) | ClinVar dbSNP |