| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11217344-T-A | LDLR | c.798T>A | p.Asp266Glu | Missense | 5/18 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 19-11216244-A-G | LDLR | c.662A>G | p.Asp221Gly | Missense | 4/18 | - |
| 10-90984925-A-G | LIPA | c.599T>C | p.Leu200Pro | Missense | 6/10 | - |
| 19-11224419-G-A | LDLR | c.1567G>A | p.Val523Met | Missense | 10/18 | - |
| 15-58855756-G-A | LIPC | c.1222G>A | p.Val408Met | Missense | 8/9 | - |
| 1-25870255-G-A | LDLRAP1 | c.66G>A | p.Trp22* | Nonsense | 1/9 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
| 19-11224013-C-T | LDLR | c.1246C>T | p.Arg416Trp | Missense | 9/18 | - |
| 19-11216208-G-A | LDLR | c.626G>A | p.Cys209Tyr | Missense | 4/18 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 1-25870254-G-A | LDLRAP1 | c.65G>A | p.Trp22* | Nonsense | 1/9 | - |
| 1-25883731-C-CA | LDLRAP1 | c.432_433insA | p.Ala145Serfs*26 | Frameshift | 4/9 | - |
| 19-11227604-G-A | LDLR | c.1775G>A | p.Gly592Glu | Missense | 12/18 | - |
| 19-11224326-G-A | LDLR | c.1474G>A | p.Asp492Asn | Missense | 10/18 | - |
| 2-44051154-G-A | ABCG5 | c.1222C>T | p.Arg408* | Nonsense | 9/13 | - |
| 19-11222190-A-C | LDLR | c.1061A>C | p.Asp354Ala | Missense | 8/18 | - |
| 2-44099233-G-A | ABCG8 | c.1083G>A | p.Trp361* | Nonsense | 7/13 | - |
| 10-90983467-C-A | LIPA | c.796G>T | p.Gly266* | Nonsense | 7/10 | - |
| 2-21229161-G-A | APOB | c.10579C>T | p.Arg3527Trp | Missense | 26/29 | - |