| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55505647-G-T | PCSK9 | c.137G>T | p.R46L | Missense | 1/12 | - |
| 12-21331549-T-C | SLCO1B1 | c.521T>C | p.V174A | Missense | 6/15 | - |
| 5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
| 4-89052323-G-T | ABCG2 | c.421C>A | p.Q141K | Missense | 5/16 | - |
| 8-18258316-G-A | NAT2 | c.803G>A | p.R268K | Missense | 2/2 | - |
| 8-18258316-G-T | NAT2 | c.803G>T | p.R268I | Missense | 2/2 | - |
| 12-21329738-A-G | SLCO1B1 | c.388A>G | p.N130D | Missense | 5/15 | - |
| 4-89052323-G-C | ABCG2 | c.421C>G | p.Q141E | Missense | 5/16 | - |
| 2-169830328-A-G | ABCB11 | c.1331T>C | p.V444A | Missense | 13/28 | - |
| 14-23895180-G-A | MYH7 | c.2155C>T | p.R719W | Missense | 19/40 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.D374Y | Missense | 7/12 | - |
| 19-11230881-T-C | LDLR | c.1959T>C | p.V653= | Synonymous | 13/18 | - |
| 1-55505604-G-A | PCSK9 | c.94G>A | p.E32K | Missense | 1/12 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.R3527Q | Missense | 26/29 | - |
| 19-11233886-C-T | LDLR | c.2177C>T | p.T726I | Missense | 15/18 | - |
| 19-11231058-G-A | LDLR | c.2000G>A | p.C667Y | Missense | 14/18 | - |
| 19-11231083-CG-C | LDLR | c.2027delG | p.G676Afs*33 | Frameshift | 14/18 | - |
| 19-11227602-C-T | LDLR | c.1773C>T | p.N591= | Synonymous | 12/18 | - |
| 19-11242658-T-A | LDLR | c.*666T>A | - | 3-UTRSNV | 18/18 | - |
| 19-11242658-T-C | LDLR | c.*666T>C | - | 3-UTRSNV | 18/18 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 19-45412048-GCTC-G | APOE | c.500_502delTCC | p.L167del | InFrameDeletion | 4/4 | - |
| 1-55518073-T-C | PCSK9 | c.646T>C | p.F216L | Missense | 4/12 | - |
| 19-11221414-GGC-AAG | LDLR | c.1027_1029delGGCinsAAG | p.G343K | Missense | 7/18 | - |
| 19-11218152-A-G | LDLR | c.902A>G | p.D301G | Missense | 6/18 | - |
| 19-11240274-C-G | LDLR | c.2475C>G | p.N825K | Missense | 17/18 | - |
| 19-11240274-C-A | LDLR | c.2475C>A | p.N825K | Missense | 17/18 | - |
| 19-11231112-C-T | LDLR | c.2054C>T | p.P685L | Missense | 14/18 | - |
| 19-11213450-G-A | LDLR | c.301G>A | p.E101K | Missense | 3/18 | - |
| 19-11226829-G-A | LDLR | c.1646G>A | p.G549D | Missense | 11/18 | - |
| 19-11237772-A-G | LDLR | c.2312-912A>G | - | IntronicSNV | - | 15/17 |
| 19-11213408-T-G | LDLR | c.259T>G | p.W87G | Missense | 3/18 | - |
| 19-11231101-C-A | LDLR | c.2043C>A | p.C681* | Nonsense | 14/18 | - |
| 6-16145325-A-G | MYLIP | c.1025A>G | p.N342S | Missense | 6/7 | - |
| 19-11217307-A-C | LDLR | c.761A>C | p.Q254P | Missense | 5/18 | - |
| 19-11226829-G-T | LDLR | c.1646G>T | p.G549V | Missense | 11/18 | - |
| 1-55546696-T-C | USP24 | c.7078+299A>G | - | IntronicSNV | - | 59/67 |
| 3-113046640-A-G | CFAP44 | c.4143T>C | p.D1381= | Synonymous | 27/35 | - |
| 7-44571657-G-A | NPC1L1 | c.2547+22C>T | - | IntronicSNV | - | 9/18 |
| 7-44571657-G-C | NPC1L1 | c.2547+22C>G | - | IntronicSNV | - | 9/18 |
| 7-44571657-G-T | NPC1L1 | c.2547+22C>A | - | IntronicSNV | - | 9/18 |
| 5-74654547-T-C | HMGCR | c.2052T>C | p.S684= | Synonymous | 16/20 | - |
| 19-11200225-A-G | LDLR | c.1A>G | p.M1? | Missense | 1/18 | - |
| 17-17721191-C-G | SREBF1 | c.1223G>C | p.G408A | Missense | 7/19 | - |
| 2-44065035-A-T | ABCG5 | c.203T>A | p.I68N | Missense | 2/13 | - |
| 1-55505646-C-T | PCSK9 | c.136C>T | p.R46C | Missense | 1/12 | - |
| 3-113152511-T-C | CFAP44 | c.1A>G | p.M1? | Missense | 2/35 | - |
| 19-11210970-G-A | LDLR | c.139G>A | p.D47N | Missense | 2/18 | - |
| 19-11213438-A-C | LDLR | c.289A>C | p.N97H | Missense | 3/18 | - |
| 19-11227574-T-C | LDLR | c.1745T>C | p.L582P | Missense | 12/18 | - |
| 19-11216045-T-G | LDLR | c.463T>G | p.C155G | Missense | 4/18 | - |
| 2-169830328-A-C | ABCB11 | c.1331T>G | p.V444G | Missense | 13/28 | - |
| 2-169830328-A-T | ABCB11 | c.1331T>A | p.V444D | Missense | 13/28 | - |
| 6-160966546-C-G | LPA | c.5324G>C | p.G1775A | Missense | 33/39 | - |
| 3-58124084-G-C | FLNB | c.4937G>C | p.G1646A | Missense | 29/46 | - |
| 19-11224068-C-G | LDLR | c.1301C>G | p.T434R | Missense | 9/18 | - |
| 3-58094223-C-A | FLNB | c.1980C>A | p.C660* | Nonsense | 13/46 | - |
| 19-11221441-T-A | LDLR | c.1054T>A | p.C352S | Missense | 7/18 | - |
| 19-11221442-G-C | LDLR | c.1055G>C | p.C352S | Missense | 7/18 | - |
| 19-11222232-G-A | LDLR | c.1103G>A | p.C368Y | Missense | 8/18 | - |
| 19-11230801-AG-A | LDLR | c.1879delG | p.A627Pfs*38 | Frameshift | 13/18 | - |
| 19-11210968-G-T | LDLR | c.137G>T | p.C46F | Missense | 2/18 | - |