| 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 |
| X | g.154532765G>A | CA519714555 | G6PD | c.1089C>T (p.Asn363=) c.1092C>T (p.Asn364=) c.952C>T c.955C>T c.941C>T (n.941C>T) c.*2C>T (n.*2C>T) c.*549C>T (n.*549C>T) c.*49C>T (n.*49C>T) c.*931C>T (n.*931C>T) c.1227C>T (p.Asn409=) c.1179C>T (p.Asn393=) n.310C>T c.1182C>T (p.Asn394=) | dbSNP gnomAD v4 |
| X | g.154532765G= | CA2466723474 | G6PD | c.1089C= (p.Asn363=) c.1092C= (p.Asn364=) c.952C= c.955C= c.941C= (n.941C=) c.*2C= (n.*2C=) c.*549C= (n.*549C=) c.*49C= (n.*49C=) c.*931C= (n.*931C=) c.1227C= (p.Asn409=) c.1179C= (p.Asn393=) n.310C= c.1182C= (p.Asn394=) | dbSNP |