| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1056493G>C | CA9034525 | ABCA7 | c.4580G>C (p.Gly1527Ala) n.4880G>C c.2065G>C (n.2065G>C) n.423G>C c.4166G>C (p.Gly1389Ala) c.2237G>C (p.Gly746Ala) c.4553G>C (p.Gly1518Ala) c.4124G>C (p.Gly1375Ala) c.*28G>C (n.*28G>C) n.4798G>C c.4325G>C (p.Gly1442Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1056493G>T | CA9034526 | ABCA7 | c.4580G>T (p.Gly1527Val) n.4880G>T c.2065G>T (n.2065G>T) n.423G>T c.4166G>T (p.Gly1389Val) c.2237G>T (p.Gly746Val) c.4553G>T (p.Gly1518Val) c.4124G>T (p.Gly1375Val) c.*28G>T (n.*28G>T) n.4798G>T c.4325G>T (p.Gly1442Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1056493G= | CA2317489565 | ABCA7 | c.4580G= (p.Gly1527=) n.4880G= c.2065G= (n.2065G=) n.423G= c.4166G= (p.Gly1389=) c.2237G= (p.Gly746=) c.4553G= (p.Gly1518=) c.4124G= (p.Gly1375=) c.*28G= (n.*28G=) n.4798G= c.4325G= (p.Gly1442=) | dbSNP |