Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909021G>C | CA9506089 | APOE | c.725G>C (p.Arg242Pro) c.803G>C (p.Arg268Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909021G>A | CA041342 | APOE | c.725G>A (p.Arg242Gln) c.803G>A (p.Arg268Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909021G= | CA2338168022 | APOE | c.725G= (p.Arg242=) c.803G= (p.Arg268=) | dbSNP |
19 | g.44909021G>T | CA406304860 | APOE | c.725G>T (p.Arg242Leu) c.803G>T (p.Arg268Leu) | dbSNP gnomAD v4 |