| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532765G>T | CA120996 | G6PD | c.1089C>A (p.Asn363Lys) c.1092C>A (p.Asn364Lys) c.952C>A c.955C>A c.941C>A (n.941C>A) c.*2C>A (n.*2C>A) c.*549C>A (n.*549C>A) c.*49C>A (n.*49C>A) c.*931C>A (n.*931C>A) c.1227C>A (p.Asn409Lys) c.1179C>A (p.Asn393Lys) n.310C>A c.1182C>A (p.Asn394Lys) | ClinVar dbSNP |
| X | g.154532765G>C | CA415234252 | G6PD | c.1089C>G (p.Asn363Lys) c.1092C>G (p.Asn364Lys) c.952C>G c.955C>G c.941C>G (n.941C>G) c.*2C>G (n.*2C>G) c.*549C>G (n.*549C>G) c.*49C>G (n.*49C>G) c.*931C>G (n.*931C>G) c.1227C>G (p.Asn409Lys) c.1179C>G (p.Asn393Lys) n.310C>G c.1182C>G (p.Asn394Lys) | ClinVar dbSNP |