| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19951791G>A | CA251879 | LPL | c.272G>A (p.Trp91Ter) c.44G>A (p.Trp15Ter) n.529G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951791G= | CA1769097494 | LPL | c.272G= (p.Trp91=) c.44G= (p.Trp15=) n.529G= | dbSNP |
| 8 | g.19951791G>C | CA370467390 | LPL | c.272G>C (p.Trp91Ser) c.44G>C (p.Trp15Ser) n.529G>C | ClinVar dbSNP |