| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19951819C>A | CA251869 | LPL | c.300C>A (p.Tyr100Ter) c.72C>A (p.Tyr24Ter) n.557C>A | ClinVar dbSNP |
| 8 | g.19951819C>T | CA173376354 | LPL | c.300C>T (p.Tyr100=) c.72C>T (p.Tyr24=) n.557C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951819C= | CA1769097612 | LPL | c.300C= (p.Tyr100=) c.72C= (p.Tyr24=) n.557C= | dbSNP |