Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19951783T>C | CA459678454 | LPL | c.264T>C (p.Tyr88=) c.36T>C (p.Tyr12=) n.521T>C | ClinVar dbSNP gnomAD v4 |
8 | g.19951783T>A | CA251873 | LPL | c.264T>A (p.Tyr88Ter) c.36T>A (p.Tyr12Ter) n.521T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19951783T= | CA1769097478 | LPL | c.264T= (p.Tyr88=) c.36T= (p.Tyr12=) n.521T= | dbSNP |