Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154535963G>A | CA10566297 | G6PD | c.241C>T (p.Arg81Cys) c.121C>T c.121C>T (p.Arg41Cys) c.*83C>T (n.*83C>T) c.331C>T (p.Arg111Cys) n.195C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154535963G= | CA2466724805 | G6PD | c.241C= (p.Arg81=) c.121C= c.121C= (p.Arg41=) c.*83C= (n.*83C=) c.331C= (p.Arg111=) n.195C= | dbSNP |
X | g.154535963G>C | CA415239632 | G6PD | c.241C>G (p.Arg81Gly) c.121C>G c.121C>G (p.Arg41Gly) c.*83C>G (n.*83C>G) c.331C>G (p.Arg111Gly) n.195C>G | dbSNP gnomAD v4 |