| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-49140115-C-A | DBP | c.137G>T | p.Ser46Ile | Missense | 1/4 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 1-55523802-A-G | PCSK9 | c.1274A>G | p.Asn425Ser | Missense | 8/12 | - |
| 1-55524262-A-G | PCSK9 | c.1445A>G | p.Glu482Gly | Missense | 9/12 | - |
| 1-55523178-C-A | PCSK9 | c.1171C>A | p.His391Asn | Missense | 7/12 | - |
| 19-49139218-C-T | DBP | c.169G>A | p.Ala57Thr | Missense | 2/4 | - |
| 19-49138862-G-A | DBP | c.525C>T | p.Leu175Leu | Synonymous | 2/4 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 1-55517952-C-T | PCSK9 | c.525C>T | p.Asp175Asp | Synonymous | 4/12 | - |
| 1-55512267-C-A | PCSK9 | c.471C>A | p.Asn157Lys | Missense | 3/12 | - |
| 1-55512222-C-G | PCSK9 | c.426C>G | p.Tyr142* | Nonsense | 3/12 | - |
| 1-55518422-C-T | PCSK9 | c.757C>T | p.Leu253Phe | Missense | 5/12 | - |
| 1-55527217-C-G | PCSK9 | c.1851C>G | p.Ala617Ala | Synonymous | 11/12 | - |
| 1-55523076-C-T | PCSK9 | c.1069C>T | p.Arg357Cys | Missense | 7/12 | - |
| 1-55518418-C-T | PCSK9 | c.753C>T | p.Arg251Arg | Synonymous | 5/12 | - |
| 1-55523779-C-A | PCSK9 | c.1251C>A | p.His417Gln | Missense | 8/12 | - |
| 1-55527217-C-T | PCSK9 | c.1851C>T | p.Ala617Ala | Synonymous | 11/12 | - |
| 1-55525315-C-G | PCSK9 | c.1660C>G | p.Gln554Glu | Missense | 10/12 | - |
| 1-55524222-C-T | PCSK9 | c.1405C>T | p.Arg469Trp | Missense | 9/12 | - |
| 1-55527222-A-C | PCSK9 | c.1856A>C | p.Gln619Pro | Missense | 11/12 | - |
| 1-55525313-A-G | PCSK9 | c.1658A>G | p.His553Arg | Missense | 10/12 | - |
| 1-55512995-G-A | PCSK9 | c.523+676G>A | - | IntronicSNV | - | 3/11 |
| 19-49138916-G-T | DBP | c.471C>A | p.Cys157* | Nonsense | 2/4 | - |
| 19-49136706-G-A | DBP | c.757C>T | p.Gln253* | Nonsense | 3/4 | - |
| 1-55505679-G-A | PCSK9 | c.169G>A | p.Glu57Lys | Missense | 1/12 | - |
| 1-55518371-G-A | PCSK9 | c.706G>A | p.Gly236Ser | Missense | 5/12 | - |