Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116836022C>T | CA382715052 | APOA1 | c.590G>A (p.Arg197His) c.524G>A (p.Arg175His) c.263G>A (p.Arg88His) | dbSNP gnomAD v4 |
11 | g.116836022C>G | CA229324102 | APOA1 | c.590G>C (p.Arg197Pro) c.524G>C (p.Arg175Pro) c.263G>C (p.Arg88Pro) | ClinVar dbSNP |