| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108141688C>G | CA382507900 | ACAT1 | c.814C>G (p.Gln272Glu) n.909C>G c.544C>G (p.Gln182Glu) c.451C>G (p.Gln151Glu) c.*69C>G (n.*69C>G) c.499C>G (p.Gln167Glu) n.902C>G c.*287C>G (n.*287C>G) n.309C>G n.275C>G c.436C>G (p.Gln146Glu) c.517C>G (p.Gln173Glu) n.854C>G n.847C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108141688C>T | CA220228 | ACAT1 | c.814C>T (p.Gln272Ter) n.909C>T c.544C>T (p.Gln182Ter) c.451C>T (p.Gln151Ter) c.*69C>T (n.*69C>T) c.499C>T (p.Gln167Ter) n.902C>T c.*287C>T (n.*287C>T) n.309C>T n.275C>T c.436C>T (p.Gln146Ter) c.517C>T (p.Gln173Ter) n.854C>T n.847C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |