| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55509693-G-A | PCSK9 | c.385G>A | p.Asp129Asn | Missense | 2/12 | - |
| 19-11217281-T-A | LDLR | c.735T>A | p.Asp245Glu | Missense | 5/18 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.Arg3527Gln | Missense | 26/29 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.Phe216Leu | Missense | 4/12 | - |
| 2-21228960-A-G | APOB | c.10780T>C | p.Trp3594Arg | Missense | 26/29 | - |
| 19-11221421-A-C | LDLR | c.1034A>C | p.Gln345Pro | Missense | 7/18 | - |
| 19-11210926-T-C | LDLR | c.95T>C | p.Phe32Ser | Missense | 2/18 | - |
| 10-124365464-G-A | DMBT1 | c.2326G>A | p.Val776Met | Missense | 22/40 | - |
| 19-11222207-G-C | LDLR | c.1078G>C | p.Asp360His | Missense | 8/18 | - |
| 19-11224219-T-C | LDLR | c.1367T>C | p.Leu456Pro | Missense | 10/18 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 19-11217281-T-G | LDLR | c.735T>G | p.Asp245Glu | Missense | 5/18 | - |