| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55518422-C-T | PCSK9 | c.757C>T | p.Leu253Phe | Missense | 5/12 | - |
| 1-55518374-C-T | PCSK9 | c.709C>T | p.Arg237Trp | Missense | 5/12 | - |
| 1-55505651-C-T | PCSK9 | c.141C>T | p.Ser47Ser | Synonymous | 1/12 | - |
| 1-55524197-A-G | PCSK9 | c.1380A>G | p.Val460Val | Synonymous | 9/12 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 1-55509624-G-C | PCSK9 | c.316G>C | p.Gly106Arg | Missense | 2/12 | - |
| 1-55524197-A-C | PCSK9 | c.1380A>C | p.Val460Val | Synonymous | 9/12 | - |
| 1-55509624-G-A | PCSK9 | c.316G>A | p.Gly106Arg | Missense | 2/12 | - |
| 1-55509644-G-C | PCSK9 | c.336G>C | p.Leu112Leu | Synonymous | 2/12 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 1-55528629-G-A | PCSK9 | c.1864-413G>A | - | IntronicSNV | - | 11/11 |
| 1-55523855-G-A | PCSK9 | c.1327G>A | p.Ala443Thr | Missense | 8/12 | - |
| 1-55527222-A-C | PCSK9 | c.1856A>C | p.Gln619Pro | Missense | 11/12 | - |
| 1-55509660-C-T | PCSK9 | c.352C>T | p.Leu118Phe | Missense | 2/12 | - |
| 1-55527093-C-T | PCSK9 | c.1727C>T | p.Pro576Leu | Missense | 11/12 | - |
| 1-55525313-A-G | PCSK9 | c.1658A>G | p.His553Arg | Missense | 10/12 | - |
| 1-55529156-G-C | PCSK9 | c.1978G>C | p.Asp660His | Missense | 12/12 | - |
| 1-55509644-G-A | PCSK9 | c.336G>A | p.Leu112Leu | Synonymous | 2/12 | - |
| 1-55523802-A-G | PCSK9 | c.1274A>G | p.Asn425Ser | Missense | 8/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
| 1-55523037-C-A | PCSK9 | c.1030C>A | p.Gln344Lys | Missense | 7/12 | - |
| 1-55509642-C-T | PCSK9 | c.334C>T | p.Leu112Leu | Synonymous | 2/12 | - |
| 1-55512267-C-A | PCSK9 | c.471C>A | p.Asn157Lys | Missense | 3/12 | - |
| 1-55509619-G-A | PCSK9 | c.311G>A | p.Arg104His | Missense | 2/12 | - |
| 1-55509644-G-T | PCSK9 | c.336G>T | p.Leu112Leu | Synonymous | 2/12 | - |
| 1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
| 1-55523822-G-A | PCSK9 | c.1294G>A | p.Asp432Asn | Missense | 8/12 | - |
| 1-55524214-G-A | PCSK9 | c.1397G>A | p.Gly466Glu | Missense | 9/12 | - |
| 1-55521701-C-A | PCSK9 | c.835C>A | p.Pro279Thr | Missense | 6/12 | - |