| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-55509594-C-T | PCSK9 | c.286C>T | p.R96C | Missense | 2/12 | - |
| 8-59407065-C-A | CYP7A1 | c.1039G>T | p.D347Y | Missense | 4/6 | - |
| 1-230819372-GAT-AAG | COG2 | c.1219_1221delGATinsAAG | p.D407K | Missense | 11/18 | - |
| 19-11224013-C-T | LDLR | c.1246C>T | p.R416W | Missense | 9/18 | - |
| 19-11224052-G-A | LDLR | c.1285G>A | p.V429M | Missense | 9/18 | - |
| 19-11224284-G-A | LDLR | c.1432G>A | p.G478R | Missense | 10/18 | - |
| 1-55505604-G-A | PCSK9 | c.94G>A | p.E32K | Missense | 1/12 | - |
| 19-11216000-G-T | LDLR | c.418G>T | p.E140* | Nonsense | 4/18 | - |
| 19-11216263-C-A | LDLR | c.681C>A | p.D227E | Missense | 4/18 | - |
| 19-11216263-C-G | LDLR | c.681C>G | p.D227E | Missense | 4/18 | - |
| 1-55505668-C-G | PCSK9 | c.158C>G | p.A53G | Missense | 1/12 | - |
| 1-55509689-T-G | PCSK9 | c.381T>G | p.S127R | Missense | 2/12 | - |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.S127R | Missense | 2/12 | - |
| 1-55509687-A-C | PCSK9 | c.379A>C | p.S127R | Missense | 2/12 | - |
| 1-55523855-G-A | PCSK9 | c.1327G>A | p.A443T | Missense | 8/12 | - |
| 2-27447977-C-T | CAD | c.1486C>T | p.R496W | Missense | 11/44 | - |
| 2-21229160-C-T | APOB | c.10580G>A | p.R3527Q | Missense | 26/29 | - |
| 1-55524303-C-T | PCSK9 | c.1486C>T | p.R496W | Missense | 9/12 | - |
| 19-11216264-G-A | LDLR | c.682G>A | p.E228K | Missense | 4/18 | - |
| 19-11226829-G-A | LDLR | c.1646G>A | p.G549D | Missense | 11/18 | - |
| 2-21229161-G-A | APOB | c.10579C>T | p.R3527W | Missense | 26/29 | - |
| 19-11227612-C-T | LDLR | c.1783C>T | p.R595W | Missense | 12/18 | - |
| 19-11240230-A-T | LDLR | c.2431A>T | p.K811* | Nonsense | 17/18 | - |
| 19-11231101-C-A | LDLR | c.2043C>A | p.C681* | Nonsense | 14/18 | - |
| 19-11213441-G-A | LDLR | c.292G>A | p.G98S | Missense | 3/18 | - |
| 1-55523802-A-G | PCSK9 | c.1274A>G | p.N425S | Missense | 8/12 | - |
| 19-11210962-G-A | LDLR | c.131G>A | p.W44* | Nonsense | 2/18 | - |
| 19-11222300-G-A | LDLR | c.1171G>A | p.A391T | Missense | 8/18 | - |
| 19-11224041-A-G | LDLR | c.1274A>G | p.N425S | Missense | 9/18 | - |
| 19-11224024-C-G | LDLR | c.1257C>G | p.Y419* | Nonsense | 9/18 | - |
| 19-11210957-C-A | LDLR | c.126C>A | p.Y42* | Nonsense | 2/18 | - |
| 1-55525301-G-A | PCSK9 | c.1646G>A | p.R549H | Missense | 10/12 | - |
| 2-27445509-C-G | CAD | c.618C>G | p.D206E | Missense | 5/44 | - |
| 19-11233924-C-T | LDLR | c.2215C>T | p.Q739* | Nonsense | 15/18 | - |
| 19-11215934-G-T | LDLR | c.352G>T | p.D118Y | Missense | 4/18 | - |
| 19-11215955-C-T | LDLR | c.373C>T | p.Q125* | Nonsense | 4/18 | - |
| 1-55512214-G-T | PCSK9 | c.418G>T | p.V140F | Missense | 3/12 | - |
| 19-11216244-A-G | LDLR | c.662A>G | p.D221G | Missense | 4/18 | - |
| 19-11217334-A-G | LDLR | c.788A>G | p.D263G | Missense | 5/18 | - |
| 1-55525202-G-A | PCSK9 | c.1547G>A | p.G516E | Missense | 10/12 | - |
| 2-27445509-C-A | CAD | c.618C>A | p.D206E | Missense | 5/44 | - |
| 19-11224022-T-G | LDLR | c.1255T>G | p.Y419D | Missense | 9/18 | - |
| 19-11224322-G-T | LDLR | c.1470G>T | p.W490C | Missense | 10/18 | - |
| 19-11224322-G-C | LDLR | c.1470G>C | p.W490C | Missense | 10/18 | - |
| 2-21229068-G-A | APOB | c.10672C>T | p.R3558C | Missense | 26/29 | - |
| 19-11227564-G-A | LDLR | c.1735G>A | p.D579N | Missense | 12/18 | - |
| 19-11216208-G-A | LDLR | c.626G>A | p.C209Y | Missense | 4/18 | - |
| 19-11224284-G-C | LDLR | c.1432G>C | p.G478R | Missense | 10/18 | - |
| 19-11217307-A-C | LDLR | c.761A>C | p.Q254P | Missense | 5/18 | - |
| 2-21229554-C-T | APOB | c.10186G>A | p.A3396T | Missense | 26/29 | - |
| 19-11224119-T-C | LDLR | c.1352T>C | p.I451T | Missense | 9/18 | - |
| 1-55524243-C-T | PCSK9 | c.1426C>T | p.R476C | Missense | 9/12 | - |
| 19-11217309-T-C | LDLR | c.763T>C | p.C255R | Missense | 5/18 | - |
| 19-11240203-CCTT-C | LDLR | c.2404_2406delCTT | p.L802del | InFrameDeletion | 17/18 | - |
| 19-11238756-CCAT-C | LDLR | c.2386_2388delATC | p.I796del | InFrameDeletion | 16/18 | - |
| 19-11226873-A-C | LDLR | c.1690A>C | p.N564H | Missense | 11/18 | - |
| 19-11200282-G-A | LDLR | c.58G>A | p.G20R | Missense | 1/18 | - |
| 19-11200282-G-C | LDLR | c.58G>C | p.G20R | Missense | 1/18 | - |
| 2-21225168-G-A | APOB | c.13126C>T | p.Q4376* | Nonsense | 29/29 | - |
| 1-25883705-C-T | LDLRAP1 | c.406C>T | p.Q136* | Nonsense | 4/9 | - |
| 19-11224288-T-C | LDLR | c.1436T>C | p.L479P | Missense | 10/18 | - |
| 2-21225006-A-T | APOB | c.13288T>A | p.S4430T | Missense | 29/29 | - |
| 19-11224051-C-G | LDLR | c.1284C>G | p.N428K | Missense | 9/18 | - |
| 19-11224051-C-A | LDLR | c.1284C>A | p.N428K | Missense | 9/18 | - |
| 19-11213408-T-A | LDLR | c.259T>A | p.W87R | Missense | 3/18 | - |
| 19-11213408-T-C | LDLR | c.259T>C | p.W87R | Missense | 3/18 | - |
| 19-11218167-C-T | LDLR | c.917C>T | p.S306L | Missense | 6/18 | - |
| 8-125579419-C-T | MTSS1 | c.619G>A | p.E207K | Missense | 8/14 | - |
| 19-11216132-T-C | LDLR | c.550T>C | p.C184R | Missense | 4/18 | - |
| 19-11226786-G-A | LDLR | c.1603G>A | p.D535N | Missense | 11/18 | - |
| 19-11231171-G-C | LDLR | c.2113G>C | p.A705P | Missense | 14/18 | - |
| 19-11210963-G-A | LDLR | c.132G>A | p.W44* | Nonsense | 2/18 | - |
| 1-25891662-A-AG | LDLRAP1 | c.748dupG | p.E250Gfs*4 | SpliceAcceptorInsertion | 8/9 | - |
| 19-11216187-T-TC | LDLR | c.606_606dup | p.H203Pfs*15 | Frameshift | 4/18 | - |
| 1-25889632-TC-A | LDLRAP1 | c.604_605delinsA | p.S202Tfs*2 | Frameshift | 6/9 | - |
| 19-11240216-T-TC | LDLR | c.2418dupC | p.F807Lfs*10 | Frameshift | 17/18 | - |