| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116790940G>A | CA6289100 | APOA5 | c.289C>T (p.Gln97Ter) c.373C>T (p.Gln125Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790940G>T | CA6289101 | APOA5 | c.289C>A (p.Gln97Lys) c.373C>A (p.Gln125Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.116790940G= | CA2002741121 | APOA5 | c.289C= (p.Gln97=) c.373C= (p.Gln125=) | dbSNP |