| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21008652G>A | CA022935 | APOB | c.8216C>T (p.Pro2739Leu) c.5869+2081C>T (n.5869+2081C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21008652G>T | CA43500986 | APOB | c.8216C>A (p.Pro2739Gln) c.5869+2081C>A (n.5869+2081C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21008652G= | CA2493475865 | APOB | c.8216C= (p.Pro2739=) c.5869+2081C= (n.5869+2081C=) | dbSNP |