Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104818830C>T | CA5168470 | ABCA1 | c.3295G>A (p.Asp1099Asn) c.3115G>A (p.Asp1039Asn) c.3370G>A (p.Asp1124Asn) c.2932G>A (p.Asp978Asn) c.3232G>A (p.Asp1078Asn) n.3683G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104818830C>A | CA120489 | ABCA1 | c.3295G>T (p.Asp1099Tyr) c.3115G>T (p.Asp1039Tyr) c.3370G>T (p.Asp1124Tyr) c.2932G>T (p.Asp978Tyr) c.3232G>T (p.Asp1078Tyr) n.3683G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |