| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21012603C>G | CA43508660 | APOB | c.*3571G>C (n.*3571G>C) c.3979G>C (n.3979G>C) c.4265G>C (p.Cys1422Ser) | dbSNP |
| 2 | g.21012603C>T | CA43508675 | APOB | c.*3571G>A (n.*3571G>A) c.3979G>A (n.3979G>A) c.4265G>A (p.Cys1422Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21012603C>A | CA43508657 | APOB | c.*3571G>T (n.*3571G>T) c.3979G>T (n.3979G>T) c.4265G>T (p.Cys1422Phe) | dbSNP |