| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 2-44040401-G-C | ABCG5 | c.1810C>G | p.Q604E | Missense | 13/13 | - |
| 9-107589255-C-T | ABCA1 | c.2311G>A | p.V771M | Missense | 16/50 | - |
| 9-107562804-T-C | ABCA1 | c.4760A>G | p.K1587R | Missense | 35/50 | - |
| 19-45409167-C-G | APOE | c.-24+69C>G | - | intron_variant | - | 1/3 |
| 19-45409167-C-T | APOE | c.-24+69C>T | - | intron_variant | - | 1/3 |
| 16-57016092-G-C | CETP | c.1264G>C | p.V422L | Missense | 14/16 | - |
| 11-68201295-C-T | LRP5 | c.3989C>T | p.A1330V | Missense | 18/23 | - |
| 11-68174189-G-A | LRP5 | c.1999G>A | p.V667M | Missense | 9/23 | - |
| 15-58838010-A-G | LIPC | c.644A>G | p.N215S | Missense | 5/9 | - |
| 17-4720469-C-T | PLD2 | c.1730C>T | p.T577I | Missense | 17/25 | - |
| 15-58838010-A-C | LIPC | c.644A>C | p.N215T | Missense | 5/9 | - |
| 11-68174189-G-C | LRP5 | c.1999G>C | p.V667L | Missense | 9/23 | - |
| 2-21231524-G-A | APOB | c.8216C>T | p.P2739L | Missense | 26/29 | - |
| 2-21250914-G-A | APOB | c.1853C>T | p.A618V | Missense | 14/29 | - |
| 2-21255355-A-G | APOB | c.1223T>C | p.I408T | Missense | 10/29 | - |
| 2-21225753-C-T | APOB | c.12541G>A | p.E4181K | Missense | 29/29 | - |
| 1-55505668-C-G | PCSK9 | c.158C>G | p.A53G | Missense | 1/12 | - |
| 1-55505668-C-T | PCSK9 | c.158C>T | p.A53V | Missense | 1/12 | - |
| 2-21225485-C-G | APOB | c.12809G>C | p.R4270T | Missense | 29/29 | - |
| 2-21225281-C-T | APOB | c.13013G>A | p.S4338N | Missense | 29/29 | - |
| 1-53712727-C-T | LRP8 | c.2855G>A | p.R952Q | Missense | 19/19 | - |
| 2-170003432-T-G | LRP2 | c.12628A>C | p.I4210L | Missense | 69/79 | - |
| 2-170010985-T-C | LRP2 | c.12280A>G | p.K4094E | Missense | 66/79 | - |
| 17-4722876-G-A | PLD2 | c.2461G>A | p.G821S | Missense | 23/25 | - |
| 17-4722876-G-C | PLD2 | c.2461G>C | p.G821R | Missense | 23/25 | - |
| 18-21120444-T-C | NPC1 | c.2572A>G | p.I858V | Missense | 17/25 | - |
| 2-170070172-C-T | LRP2 | c.6035G>A | p.R2012K | Missense | 36/79 | - |
| 2-170053505-C-A | LRP2 | c.8614G>T | p.A2872S | Missense | 46/79 | - |
| 2-170053505-C-G | LRP2 | c.8614G>C | p.A2872P | Missense | 46/79 | - |
| 2-170053505-C-T | LRP2 | c.8614G>A | p.A2872T | Missense | 46/79 | - |
| 9-107620835-G-A | ABCA1 | c.688C>T | p.R230C | Missense | 7/50 | - |
| 18-21124945-C-T | NPC1 | c.1926G>A | p.M642I | Missense | 12/25 | - |
| 18-21124945-C-A | NPC1 | c.1926G>T | p.M642I | Missense | 12/25 | - |
| 18-21124945-C-G | NPC1 | c.1926G>C | p.M642I | Missense | 12/25 | - |
| 14-77987958-C-A | SPTLC2 | c.1304-34G>T | - | IntronicSNV | - | 9/11 |
| 18-21120444-T-A | NPC1 | c.2572A>T | p.I858F | Missense | 17/25 | - |
| 14-77987958-C-G | SPTLC2 | c.1304-34G>C | - | IntronicSNV | - | 9/11 |
| 10-68040325-C-T | CTNNA3 | c.1787G>A | p.S596N | Missense | 13/18 | - |
| 11-123600475-A-G | ZNF202 | c.461T>C | p.V154A | Missense | 5/9 | - |
| 11-46897446-G-A | LRP4 | c.3608C>T | p.A1203V | Missense | 26/38 | - |
| 11-46898771-T-C | LRP4 | c.3256A>G | p.I1086V | Missense | 23/38 | - |
| 19-33698291-T-C | LRP3 | c.2123T>C | p.V708A | Missense | 7/7 | - |
| 1-25889632-T-C | LDLRAP1 | c.604T>C | p.S202P | Missense | 6/9 | - |
| 6-16145325-A-G | MYLIP | c.1025A>G | p.N342S | Missense | 6/7 | - |
| 9-140327663-C-T | NOXA1 | c.857C>T | p.P286L | Missense | 10/14 | - |
| 1-53793511-T-C | LRP8 | c.74A>G | p.Q25R | Missense | 1/19 | - |
| 9-140322520-T-G | NOXA1 | c.296T>G | p.L99R | Missense | 3/14 | - |
| 1-53792651-A-C | LRP8 | c.138T>G | p.D46E | Missense | 2/19 | - |
| 13-32371361-A-G | RXFP2 | c.1810A>G | p.I604V | Missense | 17/18 | - |
| 11-121393684-G-A | SORL1 | c.1582G>A | p.A528T | Missense | 11/48 | - |
| 15-58853079-C-A | LIPC | c.1068C>A | p.F356L | Missense | 7/9 | - |
| 9-102591042-A-G | NR4A3 | c.718A>G | p.S240G | Missense | 3/8 | - |
| 9-140328756-C-T | NOXA1 | c.1375C>T | p.R459W | Missense | 14/14 | - |
| 2-21259976-C-T | APOB | c.689G>A | p.G230D | Missense | 6/29 | - |
| 19-11222300-G-A | LDLR | c.1171G>A | p.A391T | Missense | 8/18 | - |
| 19-11210905-A-C | LDLR | c.74A>C | p.D25A | Missense | 2/18 | - |
| 11-121495816-A-T | SORL1 | c.6194A>T | p.D2065V | Missense | 46/48 | - |
| 15-58853079-C-T | LIPC | c.1068C>T | p.F356= | Synonymous | 7/9 | - |
| 13-32371361-A-T | RXFP2 | c.1810A>T | p.I604F | Missense | 17/18 | - |
| 17-17425631-C-G | PEMT | c.283G>C | p.V95L | Missense | 3/7 | - |
| 17-17425631-C-A | PEMT | c.283G>T | p.V95F | Missense | 3/7 | - |
| 17-17425631-C-T | PEMT | c.283G>A | p.V95I | Missense | 3/7 | - |
| 1-25889632-T-G | LDLRAP1 | c.604T>G | p.S202A | Missense | 6/9 | - |
| 12-57522754-A-C | LRP1 | c.7A>C | p.T3P | Missense | 1/89 | - |
| 1-22142474-T-G | LDLRAD2 | c.550T>G | p.C184G | Missense | 3/5 | - |
| 1-25889632-T-A | LDLRAP1 | c.604T>A | p.S202T | Missense | 6/9 | - |
| 2-170010985-T-A | LRP2 | c.12280A>T | p.K4094* | Nonsense | 66/79 | - |
| 19-50881820-A-AAAC | NR1H2 | c.516_518dup | p.Q175dup | InFrameInsertion | 6/10 | - |
| 4-3526642-T-C | LRPAP1 | c.341A>G | p.N114S | Missense | 2/8 | - |
| 11-121393684-G-T | SORL1 | c.1582G>T | p.A528S | Missense | 11/48 | - |
| X-48382383-T-A | EBP | c.224T>A | p.I75N | Missense | 2/5 | - |
| 10-68040325-C-G | CTNNA3 | c.1787G>C | p.S596T | Missense | 13/18 | - |
| 1-161011931-T-G | USF1 | c.251A>C | p.Y84S | Missense | 5/11 | - |
| 18-21136274-T-G | NPC1 | c.1259A>C | p.Y420S | Missense | 8/25 | - |
| 9-140328777-C-T | NOXA1 | c.1396C>T | p.R466C | Missense | 14/14 | - |
| 9-140328756-C-G | NOXA1 | c.1375C>G | p.R459G | Missense | 14/14 | - |
| 9-107645351-TCT-ACA | ABCA1 | c.388_390delAGAinsTGT | p.R130C | Missense | 5/50 | - |
| 2-141116447-G-T | LRP1B | c.11200C>A | p.Q3734K | Missense | 73/91 | - |
| 11-123600475-A-C | ZNF202 | c.461T>G | p.V154G | Missense | 5/9 | - |
| 11-123600475-A-T | ZNF202 | c.461T>A | p.V154E | Missense | 5/9 | - |
| 4-3526642-T-A | LRPAP1 | c.341A>T | p.N114I | Missense | 2/8 | - |
| 2-141093253-G-A | LRP1B | c.12047C>T | p.P4016L | Missense | 78/91 | - |
| 2-44053607-G-A | ABCG5 | c.688C>T | p.Q230* | Nonsense | 6/13 | - |
| 19-50881649-A-C | NR1H2 | c.425A>C | p.Q142P | Missense | 5/10 | - |
| 7-44579179-C-A | NPC1L1 | c.817G>T | p.D273Y | Missense | 2/19 | - |
| 10-69281701-A-T | CTNNA3 | c.478T>A | p.S160T | Missense | 5/18 | - |
| 19-11216132-T-G | LDLR | c.550T>G | p.C184G | Missense | 4/18 | - |
| 12-57598475-G-A | LRP1 | c.11137G>A | p.G3713R | Missense | 72/89 | - |
| 19-33697955-G-A | LRP3 | c.1787G>A | p.R596H | Missense | 7/7 | - |
| 18-21148825-T-G | NPC1 | c.425A>C | p.K142T | Missense | 4/25 | - |
| 2-141751676-T-C | LRP1B | c.2532A>G | p.I844M | Missense | 16/91 | - |
| 19-50881828-G-GCAA | NR1H2 | c.524_525insACA | p.Q175dup | InFrameInsertion | 6/10 | - |
| 12-57572366-A-C | LRP1 | c.4586A>C | p.H1529P | Missense | 27/89 | - |
| 1-53793511-T-A | LRP8 | c.74A>T | p.Q25L | Missense | 1/19 | - |
| 1-53793511-T-G | LRP8 | c.74A>C | p.Q25P | Missense | 1/19 | - |
| 7-44579029-T-A | NPC1L1 | c.967A>T | p.T323S | Missense | 2/19 | - |
| 7-44579029-T-C | NPC1L1 | c.967A>G | p.T323A | Missense | 2/19 | - |
| 7-44579029-T-G | NPC1L1 | c.967A>C | p.T323P | Missense | 2/19 | - |
| 2-21255166-G-T | APOB | c.1352+60C>A | - | IntronicSNV | - | 10/28 |
| 11-68125147-C-T | LRP5 | c.518C>T | p.T173M | Missense | 3/23 | - |
| 12-57598897-C-A | LRP1 | c.11200C>A | p.P3734T | Missense | 73/89 | - |
| 17-4713060-G-A | PLD2 | c.689G>A | p.C230Y | Missense | 8/25 | - |
| 11-121498420-A-C | SORL1 | c.6521A>C | p.N2174T | Missense | 47/48 | - |
| 14-78082825-C-A | SPTLC2 | c.98G>T | p.S33I | Missense | 1/12 | - |
| 17-4711141-A-C | PLD2 | c.74A>C | p.D25A | Missense | 2/25 | - |
| 11-68207376-T-C | LRP5 | c.4480T>C | p.Y1494H | Missense | 21/23 | - |
| 17-4711165-G-T | PLD2 | c.98G>T | p.G33V | Missense | 2/25 | - |
| 3-148939506-T-G | CP | c.74A>C | p.Y25S | Missense | 1/19 | - |
| 1-53746346-T-G | LRP8 | c.409A>C | p.T137P | Missense | 4/19 | - |
| 1-55505552-A-AATGCTG | PCSK9 | c.42_43insATGCTG | p.P14_L15insML | InFrameInsertion | 1/12 | - |
| 18-21136362-C-T | NPC1 | c.1171G>A | p.E391K | Missense | 8/25 | - |
| 2-44059192-A-C | ABCG5 | c.296T>G | p.M99R | Missense | 3/13 | - |
| 2-21235260-A-G | APOB | c.4480T>C | p.S1494P | Missense | 26/29 | - |
| 19-45411071-G-T | APOE | c.98G>T | p.R33L | Missense | 3/4 | - |
| 2-44055238-G-A | ABCG5 | c.518C>T | p.A173V | Missense | 5/13 | - |
| 2-141739761-C-T | LRP1B | c.2855G>A | p.C952Y | Missense | 18/91 | - |
| 2-21233546-T-A | APOB | c.6194A>T | p.D2065V | Missense | 26/29 | - |
| 18-21141405-A-C | NPC1 | c.550T>G | p.C184G | Missense | 5/25 | - |
| 18-21141477-A-T | NPC1 | c.478T>A | p.C160S | Missense | 5/25 | - |
| 19-11215970-T-C | LDLR | c.388T>C | p.S130P | Missense | 4/18 | - |
| 19-11217363-G-T | LDLR | c.817G>T | p.V273L | Missense | 5/18 | - |
| 18-21136310-A-G | NPC1 | c.1223T>C | p.L408P | Missense | 8/25 | - |
| 2-44040358-G-A | ABCG5 | c.1853C>T | p.S618F | Missense | 13/13 | - |
| 19-11200280-C-G | LDLR | c.56C>G | p.A19G | Missense | 1/18 | - |
| X-48385560-T-G | EBP | c.356T>G | p.V119G | Missense | 4/5 | - |
| 21-43693526-C-T | ABCG1 | c.518C>T | p.T173I | Missense | 4/15 | - |
| 2-21263897-A-C | APOB | c.296T>G | p.L99R | Missense | 4/29 | - |
| 7-44579179-C-T | NPC1L1 | c.817G>A | p.D273N | Missense | 2/19 | - |
| 1-22142474-T-C | LDLRAD2 | c.550T>C | p.C184R | Missense | 3/5 | - |
| 19-50881828-G-GCA | NR1H2 | c.523_524dup | p.Q175Hfs*46 | Frameshift | 6/10 | - |
| 1-55505552-A-ATG | PCSK9 | c.42_43insTG | p.L15Cfs*30 | Frameshift | 1/12 | - |