| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534489T>C | CA121000 | G6PD | c.493A>G (p.Asn165Asp) c.496A>G (p.Asn166Asp) c.356A>G c.359A>G c.373A>G (p.Asn125Asp) c.*335A>G (n.*335A>G) c.583A>G (p.Asn195Asp) c.586A>G (p.Asn196Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534489T= | CA2466724201 | G6PD | c.493A= (p.Asn165=) c.496A= (p.Asn166=) c.356A= c.359A= c.373A= (p.Asn125=) c.*335A= (n.*335A=) c.583A= (p.Asn195=) c.586A= (p.Asn196=) | dbSNP |