| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535277T>C | CA120939 | G6PD | c.376A>G (p.Asn126Asp) c.239A>G c.256A>G (p.Asn86Asp) c.*218A>G (n.*218A>G) c.466A>G (p.Asn156Asp) n.330A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154535277T>A | CA10566254 | G6PD | c.376A>T (p.Asn126Tyr) c.239A>T c.256A>T (p.Asn86Tyr) c.*218A>T (n.*218A>T) c.466A>T (p.Asn156Tyr) n.330A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154535277T= | CA2466724554 | G6PD | c.376A= (p.Asn126=) c.239A= c.256A= (p.Asn86=) c.*218A= (n.*218A=) c.466A= (p.Asn156=) n.330A= | dbSNP |