Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909032C>T | CA127508 | APOE | c.736C>T (p.Arg246Cys) c.814C>T (p.Arg272Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909032C>A | CA406304904 | APOE | c.736C>A (p.Arg246Ser) c.814C>A (p.Arg272Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909032C= | CA2338168030 | APOE | c.736C= (p.Arg246=) c.814C= (p.Arg272=) | dbSNP |