| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
| 5-74648496-G-T | HMGCR | c.1368+1069G>T | - | IntronicSNV | - | 11/19 |
| 1-63063622-GA-AC | ANGPTL3 | c.385_386delGAinsAC | p.Glu129Thr | Missense | 1/7 | - |
| 1-63063287-CC-AA | ANGPTL3 | c.50_51delCCinsAA | p.Ser17* | Nonsense | 1/7 | - |
| 1-55512252-G-T | PCSK9 | c.456G>T | p.Gln152His | Missense | 3/12 | - |
| 1-55509552-CT-TA | PCSK9 | c.244_245delCTinsTA | p.Leu82* | Nonsense | 2/12 | - |
| 1-241682930-CGC-TTT | FH | c.91_93delGCGinsTTT | p.Ala31Phe | Missense | 1/10 | - |
| 1-55505712-CG-C | PCSK9 | c.202delG | p.Ala68Profs*15 | Frameshift | 1/12 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
| 1-55523127-G-C | PCSK9 | c.1120G>C | p.Asp374His | Missense | 7/12 | - |
| 1-55505613-G-T | PCSK9 | c.103G>T | p.Asp35Tyr | Missense | 1/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |
| 1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
| 5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
| 1-55512252-G-C | PCSK9 | c.456G>C | p.Gln152His | Missense | 3/12 | - |
| 1-55509598-CGCC-C | PCSK9 | c.290_292delGCC | p.Arg97delArg | InFrameDeletion | 2/12 | - |
| 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 | - |
| 7-44578607-GCG-TGG | NPC1L1 | c.1387_1389delCGCinsTGG | p.Arg463Trp | Missense | 2/20 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 1-55509649-T-C | PCSK9 | c.341T>C | p.Val114Ala | Missense | 2/12 | - |
| 5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
| 1-55509694-A-G | PCSK9 | c.386A>G | p.Asp129Gly | Missense | 2/12 | - |
| 1-55509618-C-T | PCSK9 | c.310C>T | p.Arg104Cys | Missense | 2/12 | - |