| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19951916C>G | CA370467709 | LPL | c.397C>G (p.Gln133Glu) c.169C>G (p.Gln57Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951916C>T | CA251862 | LPL | c.397C>T (p.Gln133Ter) c.169C>T (p.Gln57Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951916C= | CA1769097934 | LPL | c.397C= (p.Gln133=) c.169C= (p.Gln57=) | dbSNP |