Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154535336G>A | CA10566265 | G6PD | c.317C>T (p.Ser106Phe) c.180C>T c.197C>T (p.Ser66Phe) c.*159C>T (n.*159C>T) c.407C>T (p.Ser136Phe) n.271C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154535336G>C | CA033211 | G6PD | c.317C>G (p.Ser106Cys) c.180C>G c.197C>G (p.Ser66Cys) c.*159C>G (n.*159C>G) c.407C>G (p.Ser136Cys) n.271C>G | dbSNP |