| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534419G>A | CA120955 | G6PD | c.563C>T (p.Ser188Phe) c.566C>T (p.Ser189Phe) c.426C>T c.429C>T c.443C>T (p.Ser148Phe) c.*405C>T (n.*405C>T) c.653C>T (p.Ser218Phe) c.656C>T (p.Ser219Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154534419G= | CA2466724173 | G6PD | c.563C= (p.Ser188=) c.566C= (p.Ser189=) c.426C= c.429C= c.443C= (p.Ser148=) c.*405C= (n.*405C=) c.653C= (p.Ser218=) c.656C= (p.Ser219=) | dbSNP |