| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19962213C>G | CA115037 | LPL | c.1421C>G (p.Ser474Ter) c.361C>G (n.361C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19962213C>A | CA370639151 | LPL | c.1421C>A (p.Ser474Ter) c.361C>A (n.361C>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19962213C= | CA1769112026 | LPL | c.1421C= (p.Ser474=) c.361C= (n.361C=) | dbSNP |