| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 19-11224041-A-G | LDLR | c.1274A>G | p.Asn425Ser | Missense | 9/18 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 1-55529108-GT-CG | PCSK9 | c.1930_1931delGTinsCG | p.Val644Arg | Missense | 12/12 | - |
| 1-55518374-C-T | PCSK9 | c.709C>T | p.Arg237Trp | Missense | 5/12 | - |
| 1-55524303-C-T | PCSK9 | c.1486C>T | p.Arg496Trp | Missense | 9/12 | - |
| 1-55509618-C-T | PCSK9 | c.310C>T | p.Arg104Cys | Missense | 2/12 | - |
| 1-55509694-A-G | PCSK9 | c.386A>G | p.Asp129Gly | Missense | 2/12 | - |
| 1-55525204-G-C | PCSK9 | c.1549G>C | p.Gly517Arg | Missense | 10/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55512299-C-A | PCSK9 | c.503C>A | p.Ala168Glu | Missense | 3/12 | - |
| 1-55509624-G-A | PCSK9 | c.316G>A | p.Gly106Arg | Missense | 2/12 | - |
| 1-55524313-G-A | PCSK9 | c.1496G>A | p.Arg499His | Missense | 9/12 | - |
| 1-55509624-G-C | PCSK9 | c.316G>C | p.Gly106Arg | Missense | 2/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 1-55518422-C-T | PCSK9 | c.757C>T | p.Leu253Phe | Missense | 5/12 | - |
| 2-21250758-T-C | APOB | c.2009A>G | p.Glu670Gly | Missense | 14/29 | - |
| 4-68441201-G-C | STAP1 | c.291G>C | p.Glu97Asp | Missense | 3/9 | - |
| 1-55509585-C-T | PCSK9 | c.277C>T | p.Arg93Cys | Missense | 2/12 | - |
| 1-55505604-G-A | PCSK9 | c.94G>A | p.Glu32Lys | Missense | 1/12 | - |
| 1-55524201-T-C | PCSK9 | c.1384T>C | p.Ser462Pro | Missense | 9/12 | - |
| 1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
| 1-55523077-G-A | PCSK9 | c.1070G>A | p.Arg357His | Missense | 7/12 | - |
| 1-55509621-C-T | PCSK9 | c.313C>T | p.Arg105Trp | Missense | 2/12 | - |
| 4-68447185-C-T | STAP1 | c.526C>T | p.Pro176Ser | Missense | 5/9 | - |
| 1-55527194-GT-CG | PCSK9 | c.1828_1829delGTinsCG | p.Val610Arg | Missense | 11/12 | - |
| 2-21229554-C-T | APOB | c.10186G>A | p.Ala3396Thr | Missense | 26/29 | - |
| 2-21252820-T-C | APOB | c.1420A>G | p.Ile474Val | Missense | 11/29 | - |
| 1-55505712-CG-C | PCSK9 | c.202delG | p.Ala68Profs*15 | Frameshift | 1/12 | - |
| 1-55521681-G-A | PCSK9 | c.815G>A | p.Arg272Gln | Missense | 6/12 | - |
| 1-55529084-A-C | PCSK9 | c.1906A>C | p.Ser636Arg | Missense | 12/12 | - |
| 1-55524222-C-T | PCSK9 | c.1405C>T | p.Arg469Trp | Missense | 9/12 | - |
| 1-55512252-G-T | PCSK9 | c.456G>T | p.Gln152His | Missense | 3/12 | - |
| 4-68441122-T-C | STAP1 | c.212T>C | p.Ile71Thr | Missense | 3/9 | - |
| 1-55523068-A-T | PCSK9 | c.1061A>T | p.Asn354Ile | Missense | 7/12 | - |
| 1-55509594-C-T | PCSK9 | c.286C>T | p.Arg96Cys | Missense | 2/12 | - |
| 8-131894883-G-A | ADCY8 | c.2109+1927C>T | - | IntronicSNV | - | 8/17 |
| 1-55523127-G-C | PCSK9 | c.1120G>C | p.Asp374His | Missense | 7/12 | - |
| 1-55518371-G-A | PCSK9 | c.706G>A | p.Gly236Ser | Missense | 5/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |
| 1-55509595-G-T | PCSK9 | c.287G>T | p.Arg96Leu | Missense | 2/12 | - |
| 1-55518323-G-A | PCSK9 | c.658G>A | p.Ala220Thr | Missense | 5/12 | - |
| 1-55521812-G-T | PCSK9 | c.946G>T | p.Gly316Cys | Missense | 6/12 | - |
| 1-241675302-G-A | FH | c.520C>T | p.Pro174Ser | Missense | 4/10 | - |
| 20-3065218-C-A | AVP | c.103G>T | p.Asp35Tyr | Missense | 1/3 | - |
| 1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
| 1-55518398-G-A | PCSK9 | c.733G>A | p.Ala245Thr | Missense | 5/12 | - |
| 1-55512267-C-A | PCSK9 | c.471C>A | p.Asn157Lys | Missense | 3/12 | - |
| 4-68449380-G-A | STAP1 | c.619G>A | p.Asp207Asn | Missense | 6/9 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
| 1-55509622-G-A | PCSK9 | c.314G>A | p.Arg105Gln | Missense | 2/12 | - |
| 1-55512252-G-C | PCSK9 | c.456G>C | p.Gln152His | Missense | 3/12 | - |
| 4-68441116-T-C | STAP1 | c.206T>C | p.Leu69Ser | Missense | 3/9 | - |
| 1-55509649-T-C | PCSK9 | c.341T>C | p.Val114Ala | Missense | 2/12 | - |
| 1-55505553-C-CCTG | PCSK9 | c.43_44insCTG | p.Leu15delinsProval | MultiAAMissense | 1/12 | - |
| 1-55523076-C-T | PCSK9 | c.1069C>T | p.Arg357Cys | Missense | 7/12 | - |
| 1-55509631-T-G | PCSK9 | c.323T>G | p.Leu108Arg | Missense | 2/12 | - |
| 1-55518071-G-A | PCSK9 | c.644G>A | p.Arg215His | Missense | 4/12 | - |