| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154533596C>T | CA10566138 | G6PD | c.844G>A (p.Asp282Asn) c.847G>A (p.Asp283Asn) c.707G>A c.710G>A c.696G>A (p.Gln232=) c.*686G>A (n.*686G>A) c.982G>A (p.Asp328Asn) c.934G>A (p.Asp312Asn) n.233G>A c.937G>A (p.Asp313Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154533596C>A | CA415235126 | G6PD | c.844G>T (p.Asp282Tyr) c.847G>T (p.Asp283Tyr) c.707G>T c.710G>T c.696G>T (p.Gln232His) c.*686G>T (n.*686G>T) c.982G>T (p.Asp328Tyr) c.934G>T (p.Asp312Tyr) n.233G>T c.937G>T (p.Asp313Tyr) | ClinVar dbSNP |
| X | g.154533596C>G | CA120963 | G6PD | c.844G>C (p.Asp282His) c.847G>C (p.Asp283His) c.707G>C c.710G>C c.696G>C (p.Gln232His) c.*686G>C (n.*686G>C) c.982G>C (p.Asp328His) c.934G>C (p.Asp312His) n.233G>C c.937G>C (p.Asp313His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |