| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116836094C>G | CA127586 | APOA1 | c.518G>C (p.Arg173Pro) c.452G>C (p.Arg151Pro) c.191G>C (p.Arg64Pro) | ClinVar dbSNP |
| 11 | g.116836094C= | CA2002761894 | APOA1 | c.518G= (p.Arg173=) c.452G= (p.Arg151=) c.191G= (p.Arg64=) | dbSNP |
| 11 | g.116836094C>A | CA382715363 | APOA1 | c.518G>T (p.Arg173Leu) c.452G>T (p.Arg151Leu) c.191G>T (p.Arg64Leu) | dbSNP gnomAD v4 |