Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908756C>A | CA127501 | APOE | c.460C>A (p.Arg154Ser) c.538C>A (p.Arg180Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908756C>T | CA9506071 | APOE | c.460C>T (p.Arg154Cys) c.538C>T (p.Arg180Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908756C= | CA2338167722 | APOE | c.460C= (p.Arg154=) c.538C= (p.Arg180=) | dbSNP |