Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116790814G>A | CA116847 | APOA5 | c.415C>T (p.Gln139Ter) c.499C>T (p.Gln167Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.116790814G= | CA2002740972 | APOA5 | c.415C= (p.Gln139=) c.499C= (p.Gln167=) | dbSNP |
11 | g.116790814G>T | CA382738474 | APOA5 | c.415C>A (p.Gln139Lys) c.499C>A (p.Gln167Lys) | dbSNP gnomAD v4 |