| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11224224-AG-GC | LDLR | c.1372_1373delAGinsGC | p.Arg458Ala | Missense | 10/18 | - |
| 1-55529216-CG-GC | PCSK9 | c.2038_2039delCGinsGC | p.Arg680Ala | Missense | 12/12 | - |
| 1-55524192-A-G | PCSK9 | c.1375A>G | p.Thr459Ala | Missense | 9/12 | - |
| 1-55525198-TT-GC | PCSK9 | c.1543_1544delTTinsGC | p.Phe515Ala | Missense | 10/12 | - |
| 1-55524198-TG-GC | PCSK9 | c.1381_1382delTGinsGC | p.Trp461Ala | Missense | 9/12 | - |
| 1-55525264-CA-GC | PCSK9 | c.1609_1610delCAinsGC | p.His537Ala | Missense | 10/12 | - |
| 1-55525306-CA-GC | PCSK9 | c.1651_1652delCAinsGC | p.His551Ala | Missense | 10/12 | - |
| 1-55525312-CA-GC | PCSK9 | c.1657_1658delCAinsGC | p.His553Ala | Missense | 10/12 | - |
| 1-55524259-A-C | PCSK9 | c.1442A>C | p.Glu481Ala | Missense | 9/12 | - |
| 1-55525324-CA-GC | PCSK9 | c.1669_1670delCAinsGC | p.His557Ala | Missense | 10/12 | - |
| 1-55523163-T-G | PCSK9 | c.1156T>G | p.Ser386Ala | Missense | 7/12 | - |
| 1-55524180-CT-TA | PCSK9 | c.1363_1364delCTinsTA | p.Leu455* | Nonsense | 9/12 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 1-55527170-CA-GC | PCSK9 | c.1804_1805delCAinsGC | p.His602Ala | Missense | 11/12 | - |
| 1-55527086-CA-GC | PCSK9 | c.1720_1721delCAinsGC | p.His574Ala | Missense | 11/12 | - |