| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11211009-C-T | LDLR | c.178C>T | p.Q60* | Nonsense | 2/18 | - |
| 19-11230842-C-T | LDLR | c.1920C>T | p.N640= | Synonymous | 13/18 | - |
| 19-11213467-G-T | LDLR | c.313+5G>T | - | IntronicSNV | - | 3/17 |
| 19-11216268-A-T | LDLR | c.686A>T | p.E229V | Missense | 4/18 | - |
| 19-11221361-G-T | LDLR | c.974G>T | p.C325F | Missense | 7/18 | - |
| 19-11223968-C-T | LDLR | c.1201C>T | p.L401F | Missense | 9/18 | - |
| 19-11224290-G-A | LDLR | c.1438G>A | p.A480T | Missense | 10/18 | - |
| 19-11231164-G-A | LDLR | c.2106G>A | p.M702I | Missense | 14/18 | - |
| 19-11233876-G-T | LDLR | c.2167G>T | p.E723* | Nonsense | 15/18 | - |
| 19-11233920-G-T | LDLR | c.2211G>T | p.R737S | Missense | 15/18 | - |
| 19-11234020-G-A | LDLR | c.2311G>A | p.A771T | Missense | 15/18 | - |
| 19-11240281-T-A | LDLR | c.2482T>A | p.Y828N | Missense | 17/18 | - |
| 1-55525202-G-T | PCSK9 | c.1547G>T | p.G516V | Missense | 10/12 | - |
| 19-11222296-G-A | LDLR | c.1167G>A | p.T389= | Synonymous | 8/18 | - |
| 19-11230899-C-A | LDLR | c.1977C>A | p.T659= | Synonymous | 13/18 | - |
| 19-11216260-TGAC-T | LDLR | c.681_683delCGA | p.D227del | InFrameDeletion | 4/18 | - |
| 19-11221411-G-A | LDLR | c.1024G>A | p.D342N | Missense | 7/18 | - |
| 19-11233886-C-T | LDLR | c.2177C>T | p.T726I | Missense | 15/18 | - |
| 19-11222244-AG-A | LDLR | c.1118delG | p.G373Vfs*40 | Frameshift | 8/18 | - |
| 19-11234001-AGTGACAAT-A | LDLR | c.2295_2302delGACAATGT | p.T766Sfs*13 | Frameshift | 15/18 | - |
| 19-45411987-G-A | APOE | c.434G>A | p.G145D | Missense | 4/4 | - |
| 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 | - |
| 1-55505632-T-A | PCSK9 | c.122T>A | p.L41Q | Missense | 1/12 | - |
| 19-45412048-GCTC-G | APOE | c.500_502delTCC | p.L167del | InFrameDeletion | 4/4 | - |
| 2-21229068-G-A | APOB | c.10672C>T | p.R3558C | Missense | 26/29 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.G670E | Missense | 12/12 | - |
| 19-45411110-T-C | APOE | c.137T>C | p.L46P | Missense | 3/4 | - |
| 19-45412040-C-T | APOE | c.487C>T | p.R163C | Missense | 4/4 | - |
| 2-21250758-T-C | APOB | c.2009A>G | p.E670G | Missense | 14/29 | - |
| 1-55523855-G-A | PCSK9 | c.1327G>A | p.A443T | Missense | 8/12 | - |
| 19-11227559-G-A | LDLR | c.1730G>A | p.W577* | Nonsense | 12/18 | - |
| 19-11218079-G-A | LDLR | c.829G>A | p.E277K | Missense | 6/18 | - |
| 19-11218155-G-T | LDLR | c.905G>T | p.C302F | Missense | 6/18 | - |
| 2-21229446-G-C | APOB | c.10294C>G | p.Q3432E | Missense | 26/29 | - |