| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55518081-A-C | PCSK9 | c.654A>C | p.Arg218Ser | Missense | 4/12 | - |
| 8-19819077-T-G | LPL | c.1322+483T>G | - | IntronicSNV | - | 8/9 |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 1-55518081-A-T | PCSK9 | c.654A>T | p.Arg218Ser | Missense | 4/12 | - |
| 8-19815189-C-T | LPL | c.1019-1582C>T | - | IntronicSNV | - | 6/9 |
| 2-21225753-C-A | APOB | c.12541G>T | p.Glu4181* | Nonsense | 29/29 | - |
| 2-21231524-G-T | APOB | c.8216C>A | p.Pro2739Gln | Missense | 26/29 | - |
| 8-19819077-T-A | LPL | c.1322+483T>A | - | IntronicSNV | - | 8/9 |
| 8-19813529-A-G | LPL | c.953A>G | p.Asn318Ser | Missense | 6/10 | - |
| 2-21231524-G-A | APOB | c.8216C>T | p.Pro2739Leu | Missense | 26/29 | - |
| 8-19805708-G-C | LPL | c.106G>C | p.Asp36His | Missense | 2/10 | - |
| 8-19805708-G-A | LPL | c.106G>A | p.Asp36Asn | Missense | 2/10 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
| 19-11230881-T-C | LDLR | c.1959T>C | p.Val653Val | Synonymous | 13/18 | - |
| 2-21225753-C-T | APOB | c.12541G>A | p.Glu4181Lys | Missense | 29/29 | - |
| 2-21232195-G-A | APOB | c.7545C>T | p.Thr2515Thr | Synonymous | 26/29 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
| 8-133883652-ACA-TGT | TG | c.334_336delACAinsTGT | p.Thr112Cys | Missense | 4/48 | - |
| 8-133883607-C-T | TG | c.289C>T | p.Gln97* | Nonsense | 4/48 | - |
| 19-11224107-CC-AA | LDLR | c.1340_1341delCCinsAA | p.Ser447* | Nonsense | 9/18 | - |
| 11-117532543-A-G | DSCAML1 | c.511+114963T>C | - | intron_variant | - | 3/32 |