| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116836023G>A | CA127537 | APOA1 | c.589C>T (p.Arg197Cys) c.523C>T (p.Arg175Cys) c.262C>T (p.Arg88Cys) | ClinVar dbSNP |
| 11 | g.116836023G>T | CA382715059 | APOA1 | c.589C>A (p.Arg197Ser) c.523C>A (p.Arg175Ser) c.262C>A (p.Arg88Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116836023G= | CA2002761847 | APOA1 | c.589C= (p.Arg197=) c.523C= (p.Arg175=) c.262C= (p.Arg88=) | dbSNP |