| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21012439G>A | CA022836 | APOB | c.*3735C>T (n.*3735C>T) c.4143C>T (n.4143C>T) c.4429C>T (p.Gln1477Ter) | ClinVar dbSNP |
| 2 | g.21012439G>C | CA16621979 | APOB | c.*3735C>G (n.*3735C>G) c.4143C>G (n.4143C>G) c.4429C>G (p.Gln1477Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21012439G= | CA2493477671 | APOB | c.*3735C= (n.*3735C=) c.4143C= (n.4143C=) c.4429C= (p.Gln1477=) | dbSNP |