Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116835948C>A | CA382714613 | APOA1 | c.664G>T (p.Glu222Ter) c.598G>T (p.Glu200Ter) c.337G>T (p.Glu113Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116835948C>T | CA127546 | APOA1 | c.664G>A (p.Glu222Lys) c.598G>A (p.Glu200Lys) c.337G>A (p.Glu113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |