| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1043104G>C | CA402942042 | ABCA7 | c.643G>C (p.Gly215Arg) n.1323G>C c.229G>C (p.Gly77Arg) c.187G>C (p.Gly63Arg) n.861G>C | dbSNP |
| 19 | g.1043104G>A | CA9032720 | ABCA7 | c.643G>A (p.Gly215Ser) n.1323G>A c.229G>A (p.Gly77Ser) c.187G>A (p.Gly63Ser) n.861G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |