| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154536032C>T | CA120957 | G6PD | c.172G>A (p.Asp58Asn) c.52G>A c.52G>A (p.Asp18Asn) c.*14G>A (n.*14G>A) c.262G>A (p.Asp88Asn) n.126G>A | ClinVar dbSNP gnomAD v4 |
| X | g.154536032C>G | CA415239974 | G6PD | c.172G>C (p.Asp58His) c.52G>C c.52G>C (p.Asp18His) c.*14G>C (n.*14G>C) c.262G>C (p.Asp88His) n.126G>C | dbSNP gnomAD v4 |
| X | g.154536032C= | CA2466724828 | G6PD | c.172G= (p.Asp58=) c.52G= c.52G= (p.Asp18=) c.*14G= (n.*14G=) c.262G= (p.Asp88=) n.126G= | dbSNP |