| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55521821-CG-GA | PCSK9 | c.955_956delCGinsGA | p.Arg319Glu | Missense | 6/12 | - |
| 19-11224300-G-A | LDLR | c.1448G>A | p.Trp483* | Nonsense | 10/18 | - |
| 1-55521824-G-A | PCSK9 | c.958G>A | p.Asp320Asn | Missense | 6/12 | - |
| 1-55521784-G-C | PCSK9 | c.918G>C | p.Arg306Ser | Missense | 6/12 | - |
| 19-11224008-T-G | LDLR | c.1241T>G | p.Leu414Arg | Missense | 9/18 | - |
| 1-55521784-G-T | PCSK9 | c.918G>T | p.Arg306Ser | Missense | 6/12 | - |
| 1-55521800-GT-AG | PCSK9 | c.934_935delGTinsAG | p.Val312Ser | Missense | 6/12 | - |
| 2-21229033-G-A | APOB | c.10707C>T | p.Asn3569Asn | Synonymous | 26/29 | - |
| 19-11227645-G-A | LDLR | c.1816G>A | p.Ala606Thr | Missense | 12/18 | - |
| 19-11230801-G-A | LDLR | c.1879G>A | p.Ala627Thr | Missense | 13/18 | - |
| 19-11227576-C-T | LDLR | c.1747C>T | p.His583Tyr | Missense | 12/18 | - |
| 1-55521800-G-T | PCSK9 | c.934G>T | p.Val312Phe | Missense | 6/12 | - |
| 19-11227630-G-T | LDLR | c.1801G>T | p.Asp601Tyr | Missense | 12/18 | - |
| 19-11221373-G-A | LDLR | c.986G>A | p.Cys329Tyr | Missense | 7/18 | - |