Table A4.
Patients with multiple variants.
| Patient Numbers | Phenotype | Variant 1 (Gene/Variant/Zygosity) |
Variant 2 (Gene/Variant/Zygosity) |
Cis/Trans Position (Evidence) |
|---|---|---|---|---|
| 423 | HoFH | LDLR:p.Gly592Glu (het) | LDLR:p.Glu418Ter (het) | Trans (genetic test of relatives) |
| 474 | Severe HetFH | LDLR:p.Gly592Glu (het) | LDLR:p.Ala771Glufs*9 (het) | Trans (long read sequencing) |
| 166 | HoFH | LDLR:c.941-3C > G (het) | LDLR:p.Cys329Tyr (het) | Trans (genetic test of relatives) |
| 722 | HoFH | LDLR:c.940 + 3_940 + 6del (het) | LDLR:p.Arg416Trp (het) | Unknown |
| 668 | HoFH | LDLR:p.Cys329Tyr (het) | LDLR:p.Gly592Glu (het) | Trans (genetic test of relatives) |
| 675 | HoFH | LDLR:p.Trp577Arg (hom) | ||
| 355 | HoFH | LDLR:p.Ile441Asn (het) | LDLR:p.Ile792LeufsTer137 (het) | Unknown |
| 687 | HetFH | LDLR:p.Leu401His (het) | PCSK9:p.Arg357Cys (het) | |
| 211 | Severe HetFH | LDLR:p.Cys329Tyr (het) | LDLR:p.Gly592Glu (het) | Cis (genetic test of relatives) |
| 336 | HetFH | LDLR:p.Lys390Glu (het) | PCSK9:p.Glu34Lys (het) | |
| R-6 | HetFH | LDLR:p.Val429Met (het) | APOB:p.Glu3971Lys (het) | |
| R-35 | HetFH | LDLR:p.Gly592Glu (het) | APOB:p.Arg3527Gln (het) | |
| R-83 | HetFH | LDLR:p.Gly592Glu (het) | APOB:p.Ser4392Asn (het) + PCSK9:p.Gly51Arg (het) | |
| R-115 | HetFH | APOB:p.Arg3527Gln (het) | PCSK9:p.Pro174Ser (het) | |
| 969 | HetFH | APOB:p.Arg3527Gln (het) | APOB:p.Gln4494del (het) | Unknown |