Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154536168G>C | CA121031 | G6PD | c.131C>G (p.Ala44Gly) c.11C>G c.11C>G (p.Ala4Gly) c.221C>G (p.Ala74Gly) n.85C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154536168G= | CA2466724878 | G6PD | c.131C= (p.Ala44=) c.11C= c.11C= (p.Ala4=) c.221C= (p.Ala74=) n.85C= | dbSNP |