| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37252940C>T | CA8515710 | ACACA | c.1923G>A (p.Gln641=) c.1638G>A (p.Gln546=) n.2008G>A c.1812G>A (p.Gln604=) c.1578G>A (p.Gln526=) c.1833G>A (p.Gln611=) n.2446G>A c.1947G>A (p.Gln649=) n.2470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37252940C>G | CA399194415 | ACACA | c.1923G>C (p.Gln641His) c.1638G>C (p.Gln546His) n.2008G>C c.1812G>C (p.Gln604His) c.1578G>C (p.Gln526His) c.1833G>C (p.Gln611His) n.2446G>C c.1947G>C (p.Gln649His) n.2470G>C | dbSNP |