| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 2-44099233-G-A | ABCG8 | c.1083G>A | p.W361* | Nonsense | 7/13 | - |
| 19-11224013-C-T | LDLR | c.1246C>T | p.R416W | Missense | 9/18 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.R3527Q | Missense | 26/29 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
| 1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
| 2-21229161-G-A | APOB | c.10579C>T | p.R3527W | Missense | 26/29 | - |
| 19-11217344-T-A | LDLR | c.798T>A | p.D266E | Missense | 5/18 | - |
| 1-25870254-G-A | LDLRAP1 | c.65G>A | p.W22* | Nonsense | 1/9 | - |
| 19-11224326-G-A | LDLR | c.1474G>A | p.D492N | Missense | 10/18 | - |
| 19-11224419-G-A | LDLR | c.1567G>A | p.V523M | Missense | 10/18 | - |
| 1-25883731-C-CA | LDLRAP1 | c.432_433insA | p.A145Sfs*26 | Frameshift | 4/9 | - |
| 19-11227604-G-A | LDLR | c.1775G>A | p.G592E | Missense | 12/18 | - |
| 19-11216244-A-G | LDLR | c.662A>G | p.D221G | Missense | 4/18 | - |
| 2-21224811-ACTG-A | APOB | c.13480_13482delCAG | p.Q4494del | InFrameDeletion | 29/29 | - |
| 2-21238259-C-G | APOB | c.3491G>C | p.R1164T | Missense | 22/29 | - |
| 10-90984925-A-G | LIPA | c.599T>C | p.L200P | Missense | 6/10 | - |
| 19-11216208-G-A | LDLR | c.626G>A | p.C209Y | Missense | 4/18 | - |
| 19-11222190-A-C | LDLR | c.1061A>C | p.D354A | Missense | 8/18 | - |
| 1-25870255-G-A | LDLRAP1 | c.66G>A | p.W22* | Nonsense | 1/9 | - |
| 10-90983467-C-A | LIPA | c.796G>T | p.G266* | Nonsense | 7/10 | - |
| 2-44099232-G-A | ABCG8 | c.1082G>A | p.W361* | Nonsense | 7/13 | - |
| 2-44051154-G-A | ABCG5 | c.1222C>T | p.R408* | Nonsense | 9/13 | - |
| 15-58855756-G-A | LIPC | c.1222G>A | p.V408M | Missense | 8/9 | - |