| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55523802-A-G | PCSK9 | c.1274A>G | p.N425S | Missense | 8/12 | - |
| 1-55524303-C-T | PCSK9 | c.1486C>T | p.R496W | Missense | 9/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 1-55518071-G-A | PCSK9 | c.644G>A | p.R215H | Missense | 4/12 | - |
| 1-55524313-G-A | PCSK9 | c.1496G>A | p.R499H | Missense | 9/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.R218S | Missense | 4/12 | - |
| 1-55523077-G-A | PCSK9 | c.1070G>A | p.R357H | Missense | 7/12 | - |
| 1-55509624-G-A | PCSK9 | c.316G>A | p.G106R | Missense | 2/12 | - |
| 1-55509624-G-C | PCSK9 | c.316G>C | p.G106R | Missense | 2/12 | - |
| 1-55518371-G-A | PCSK9 | c.706G>A | p.G236S | Missense | 5/12 | - |
| 1-55512267-C-G | PCSK9 | c.471C>G | p.N157K | Missense | 3/12 | - |
| 1-55512267-C-A | PCSK9 | c.471C>A | p.N157K | Missense | 3/12 | - |
| 1-55509585-C-T | PCSK9 | c.277C>T | p.R93C | Missense | 2/12 | - |
| 16-8905010-G-A | PMM2 | c.422G>A | p.R141H | Missense | 5/8 | - |
| 1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
| 1-55505604-G-A | PCSK9 | c.94G>A | p.E32K | Missense | 1/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.C679* | Nonsense | 12/12 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
| 1-55518081-A-C | PCSK9 | c.654A>C | p.R218S | Missense | 4/12 | - |
| 1-55523068-A-T | PCSK9 | c.1061A>T | p.N354I | Missense | 7/12 | - |
| 1-55509694-A-G | PCSK9 | c.386A>G | p.D129G | Missense | 2/12 | - |
| 1-55505613-G-T | PCSK9 | c.103G>T | p.D35Y | Missense | 1/12 | - |
| 1-55509631-T-G | PCSK9 | c.323T>G | p.L108R | Missense | 2/12 | - |
| 1-55524201-T-C | PCSK9 | c.1384T>C | p.S462P | Missense | 9/12 | - |
| 1-55509618-C-T | PCSK9 | c.310C>T | p.R104C | Missense | 2/12 | - |
| 1-55529084-A-C | PCSK9 | c.1906A>C | p.S636R | Missense | 12/12 | - |
| 1-55509595-G-T | PCSK9 | c.287G>T | p.R96L | Missense | 2/12 | - |
| 1-55518422-C-T | PCSK9 | c.757C>T | p.L253F | Missense | 5/12 | - |
| 1-55518323-G-A | PCSK9 | c.658G>A | p.A220T | Missense | 5/12 | - |
| 1-55509622-G-A | PCSK9 | c.314G>A | p.R105Q | Missense | 2/12 | - |
| 1-55521812-G-T | PCSK9 | c.946G>T | p.G316C | Missense | 6/12 | - |
| 1-55529086-T-G | PCSK9 | c.1908T>G | p.S636R | Missense | 12/12 | - |
| 16-8898650-C-T | PMM2 | c.205C>T | p.P69S | Missense | 3/8 | - |
| 1-55512299-C-A | PCSK9 | c.503C>A | p.A168E | Missense | 3/12 | - |
| 1-55529086-T-A | PCSK9 | c.1908T>A | p.S636R | Missense | 12/12 | - |
| 11-129999048-CGT-TGG | APLP2 | c.1402_1404delCGTinsTGG | p.R468W | Missense | 10/17 | - |
| 1-55524309-G-A | PCSK9 | c.1492G>A | p.E498K | Missense | 9/12 | - |
| 12-57550051-A-T | LRP1 | c.1402A>T | p.R468W | Missense | 9/89 | - |