Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19954174C>A | CA370468365 | LPL | c.596C>A (p.Ser199Tyr) | dbSNP |
8 | g.19954174C>T | CA4655478 | LPL | c.596C>T (p.Ser199Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19954174C>G | CA251882 | LPL | c.596C>G (p.Ser199Cys) | ClinVar dbSNP |
8 | g.19954174C= | CA1769102010 | LPL | c.596C= (p.Ser199=) | dbSNP |