Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908601C>G | CA042073 | APOE | c.305C>G (p.Pro102Arg) c.383C>G (p.Pro128Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908601C>A | CA308885274 | APOE | c.305C>A (p.Pro102Gln) c.383C>A (p.Pro128Gln) | dbSNP |
19 | g.44908601C>T | CA308885271 | APOE | c.305C>T (p.Pro102Leu) c.383C>T (p.Pro128Leu) | dbSNP gnomAD v2 |