| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104814154C>T | CA120491 | ABCA1 | c.3865G>A (p.Asp1289Asn) c.3871G>A (p.Asp1291Asn) c.3691G>A (p.Asp1231Asn) c.3946G>A (p.Asp1316Asn) c.3940G>A (p.Asp1314Asn) c.3508G>A (p.Asp1170Asn) c.3808G>A (p.Asp1270Asn) n.4259G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104814154C= | CA1869941330 | ABCA1 | c.3865G= (p.Asp1289=) c.3871G= (p.Asp1291=) c.3691G= (p.Asp1231=) c.3946G= (p.Asp1316=) c.3940G= (p.Asp1314=) c.3508G= (p.Asp1170=) c.3808G= (p.Asp1270=) n.4259G= | dbSNP |
| 9 | g.104814154C>G | CA374317611 | ABCA1 | c.3865G>C (p.Asp1289His) c.3871G>C (p.Asp1291His) c.3691G>C (p.Asp1231His) c.3946G>C (p.Asp1316His) c.3940G>C (p.Asp1314His) c.3508G>C (p.Asp1170His) c.3808G>C (p.Asp1270His) n.4259G>C | dbSNP |