| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108139009G>A | CA252462 | ACAT1 | c.547G>A (p.Gly183Arg) n.642G>A c.*105G>A (n.*105G>A) c.277G>A (p.Gly93Arg) c.184G>A (p.Gly62Arg) c.232G>A (p.Gly78Arg) n.635G>A c.353G>A c.*20G>A (n.*20G>A) n.42G>A n.290G>A c.169G>A (p.Gly57Arg) c.250G>A (p.Gly84Arg) n.587G>A n.580G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108139009G>T | CA382507285 | ACAT1 | c.547G>T (p.Gly183Trp) n.642G>T c.*105G>T (n.*105G>T) c.277G>T (p.Gly93Trp) c.184G>T (p.Gly62Trp) c.232G>T (p.Gly78Trp) n.635G>T c.353G>T c.*20G>T (n.*20G>T) n.42G>T n.290G>T c.169G>T (p.Gly57Trp) c.250G>T (p.Gly84Trp) n.587G>T n.580G>T | dbSNP gnomAD v4 |
| 11 | g.108139009G= | CA1998717060 | ACAT1 | c.547G= (p.Gly183=) n.642G= c.*105G= (n.*105G=) c.277G= (p.Gly93=) c.184G= (p.Gly62=) c.232G= (p.Gly78=) n.635G= c.353G= c.*20G= (n.*20G=) n.42G= n.290G= c.169G= (p.Gly57=) c.250G= (p.Gly84=) n.587G= n.580G= | dbSNP |