| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 19-11163562-C-T | SMARCA4 | c.4425-5369C>T | - | IntronicSNV | - | 30/34 |
| 6-16145325-A-G | MYLIP | c.1025A>G | p.Asn342Ser | Missense | 6/7 | - |
| 1-93009438-C-G | EVI5 | c.2118+19761G>C | - | IntronicSNV | - | 17/17 |
| 7-44579180-G-C | NPC1L1 | c.816C>G | p.Leu272Leu | Synonymous | 2/20 | - |
| 7-44579180-G-A | NPC1L1 | c.816C>T | p.Leu272Leu | Synonymous | 2/20 | - |
| 6-33158898-C-T | COL11A2 | c.82+1038G>A | - | IntronicSNV | - | 1/4 |
| 20-43042364-C-T | HNF4A | c.416C>T | p.Thr139Ile | Missense | 4/10 | - |
| 14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
| 1-109817838-T-C | CELSR2 | c.*1167T>C | - | 3-UTRSNV | 34/34 | - |
| 1-55505647-G-A | PCSK9 | c.137G>A | p.Arg46His | Missense | 1/12 | - |
| 3-58381287-G-A | PXK | c.721-98G>A | - | IntronicSNV | - | 8/17 |
| 12-110000193-C-T | MMAB | c.349-536G>A | - | IntronicSNV | - | 4/8 |
| 17-66875294-C-G | ABCA8 | c.3919-1474G>C | - | IntronicSNV | - | 30/37 |
| 19-11347493-T-C | DOCK6 | c.2136A>G | p.Thr712Thr | Synonymous | 19/48 | - |
| 7-87082292-G-A | ABCB4 | c.504C>T | p.Asn168Asn | Synonymous | 6/28 | - |
| 9-78765001-C-T | PCSK5 | c.1313-6960C>T | - | IntronicSNV | - | 10/36 |
| 11-61557803-T-C | TMEM258 | c.113+162A>G | - | IntronicSNV | - | 2/3 |
| 7-87032613-A-C | ABCB4 | c.3487-16T>G | - | IntronicSNV | - | 26/27 |
| 1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
| 6-35395795-G-A | PPARD | c.*1939G>A | - | 3-UTRSNV | 8/8 | - |
| 6-35395795-G-C | PPARD | c.*1939G>C | - | 3-UTRSNV | 8/8 | - |
| 15-58724792-T-A | LIPC | c.88+473T>A | - | IntronicSNV | - | 1/8 |
| 3-11400249-C-A | ATG7 | c.1479+163C>A | - | IntronicSNV | - | 13/18 |
| 3-11400249-C-T | ATG7 | c.1479+163C>T | - | IntronicSNV | - | 13/18 |
| 8-116648565-A-C | TRPS1 | c.1-12701T>G | - | IntronicSNV | - | 1/6 |
| 9-104362937-A-G | GRIN3A | c.2766+12721T>C | - | IntronicSNV | - | 6/8 |
| 1-230237103-A-G | GALNT2 | c.126+33950A>G | - | IntronicSNV | - | 1/15 |
| 2-136557319-C-T | LCT | c.4866+858G>A | - | IntronicSNV | - | 12/16 |
| 2-165540800-T-C | COBLL1 | c.*1656A>G | - | 3-UTRSNV | 14/14 | - |
| 11-118486067-T-C | PHLDB1 | c.184+670T>C | - | IntronicSNV | - | 4/23 |
| 5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
| 20-44538427-T-C | PLTP | c.330-117A>G | - | IntronicSNV | - | 4/15 |
| 19-49206417-A-G | FUT2 | c.204A>G | p.Ala68Ala | Synonymous | 2/2 | - |
| 17-31983895-A-G | ASIC2 | c.555+499102T>C | - | IntronicSNV | - | 1/9 |
| 1-230294715-C-A | GALNT2 | c.127-19249C>A | - | IntronicSNV | - | 1/15 |
| 1-63025942-G-T | DOCK7 | c.2200-1051C>A | - | IntronicSNV | - | 19/48 |
| 1-150958836-A-G | ANXA9 | c.497A>G | p.Asp166Gly | Missense | 8/14 | - |
| 16-67708897-A-G | GFOD2 | c.*161T>C | - | 3-UTRSNV | 3/3 | - |
| 2-21225485-C-T | APOB | c.12809G>A | p.Arg4270Lys | Missense | 29/29 | - |
| 16-57000938-G-A | CETP | c.234-2360G>A | - | IntronicSNV | - | 2/15 |
| 8-19820405-G-A | LPL | c.1427+675G>A | - | IntronicSNV | - | 9/9 |
| 19-11241915-A-G | LDLR | c.2548-42A>G | - | IntronicSNV | - | 17/17 |
| 9-2640759-A-G | VLDLR | c.326-618A>G | - | IntronicSNV | - | 3/18 |
| 10-91002927-C-T | LIPA | c.229+2506G>A | - | IntronicSNV | - | 3/9 |
| 7-87032613-A-T | ABCB4 | c.3487-16T>A | - | IntronicSNV | - | 26/27 |
| 17-64208285-C-G | APOH | c.1004G>C | p.Trp335Ser | Missense | 8/8 | - |
| 7-94946084-A-C | PON1 | c.163T>G | p.Leu55Val | Missense | 3/9 | - |
| 19-52324216-G-C | FPR3 | c.1-2786G>C | - | IntronicSNV | - | 1/1 |
| 19-52324216-G-A | FPR3 | c.1-2786G>A | - | IntronicSNV | - | 1/1 |
| 19-45403412-C-T | TOMM40 | c.644-575C>T | - | IntronicSNV | - | 6/9 |
| 2-21225753-C-A | APOB | c.12541G>T | p.Glu4181* | Nonsense | 29/29 | - |
| 12-110016559-G-A | MVK | c.227-1048G>A | - | IntronicSNV | - | 3/10 |
| 2-21225485-C-G | APOB | c.12809G>C | p.Arg4270Thr | Missense | 29/29 | - |
| 6-35395795-G-T | PPARD | c.*1939G>T | - | 3-UTRSNV | 8/8 | - |
| 2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
| 9-107555711-C-A | ABCA1 | c.5507-130G>T | - | IntronicSNV | - | 40/49 |
| 9-107555711-C-G | ABCA1 | c.5507-130G>C | - | IntronicSNV | - | 40/49 |
| 9-107555711-C-T | ABCA1 | c.5507-130G>A | - | IntronicSNV | - | 40/49 |
| 4-3473139-A-G | DOK7 | c.101-1994A>G | - | IntronicSNV | - | 2/6 |
| 11-61597972-A-G | FADS2 | c.207+1903A>G | - | IntronicSNV | - | 1/11 |
| 9-78795213-C-G | PCSK5 | c.2003+599C>G | - | IntronicSNV | - | 15/36 |
| 19-8429323-G-A | ANGPTL4 | c.118G>A | p.Glu40Lys | Missense | 1/7 | - |
| 22-46627603-C-T | PPARA | c.712-86C>T | - | IntronicSNV | - | 6/7 |
| 12-53509933-C-T | SOAT2 | c.761C>T | p.Thr254Ile | Missense | 7/15 | - |
| 16-53809247-G-A | FTO | c.46-34805G>A | - | IntronicSNV | - | 1/8 |
| 19-11238473-A-T | LDLR | c.2312-211A>T | - | IntronicSNV | - | 15/17 |
| 19-11238473-A-C | LDLR | c.2312-211A>C | - | IntronicSNV | - | 15/17 |
| 19-11238473-A-G | LDLR | c.2312-211A>G | - | IntronicSNV | - | 15/17 |
| 2-21224853-C-T | APOB | c.13441G>A | p.Ala4481Thr | Missense | 29/29 | - |
| 2-21224853-C-G | APOB | c.13441G>C | p.Ala4481Pro | Missense | 29/29 | - |
| 5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
| 16-57009029-G-C | CETP | c.947G>C | p.Trp316Ser | Missense | 10/16 | - |
| 11-47270255-C-T | ACP2 | c.86G>A | p.Arg29Gln | Missense | 1/11 | - |
| 2-27743154-A-G | GCKR | c.1572+1350A>G | - | IntronicSNV | - | 17/18 |
| 12-121416650-A-T | HNF1A | c.79A>T | p.Ile27Phe | Missense | 1/10 | - |
| 8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
| 19-11350488-C-T | ANGPTL8 | c.175C>T | p.Arg59Trp | Missense | 1/4 | - |
| 20-4891759-A-G | SLC23A2 | c.207+1767T>C | - | IntronicSNV | - | 4/16 |
| 1-230294715-C-T | GALNT2 | c.127-19249C>T | - | IntronicSNV | - | 1/15 |
| 11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
| 11-61580635-C-T | FADS1 | c.486+80G>A | - | IntronicSNV | - | 2/11 |
| 2-203532304-A-G | FAM117B | c.602-28300A>G | - | IntronicSNV | - | 1/7 |
| 20-44540692-C-A | PLTP | c.-12+26G>T | - | intron_variant | - | 1/15 |
| 13-32953388-T-C | BRCA2 | c.8755-66T>C | - | IntronicSNV | - | 21/26 |
| 1-230235032-G-T | GALNT2 | c.126+31879G>T | - | IntronicSNV | - | 1/15 |
| 1-230235032-G-A | GALNT2 | c.126+31879G>A | - | IntronicSNV | - | 1/15 |
| 20-4927713-C-T | SLC23A2 | c.1-14505G>A | - | IntronicSNV | - | 2/16 |
| 11-61552680-G-T | MYRF | c.3181-592G>T | - | IntronicSNV | - | 24/25 |
| 16-56997233-G-A | CETP | c.233+197G>A | - | IntronicSNV | - | 2/15 |
| 20-44540692-C-G | PLTP | c.-12+26G>C | - | intron_variant | - | 1/15 |
| 22-46614274-C-G | PPARA | c.484C>G | p.Leu162Val | Missense | 5/8 | - |
| 1-23766233-C-T | ASAP3 | c.945-510G>A | - | IntronicSNV | - | 10/24 |
| 1-179323738-C-A | SOAT1 | c.*962C>A | - | 3-UTRSNV | 16/16 | - |
| 12-123796238-C-T | SBNO1 | c.3218-562G>A | - | IntronicSNV | - | 24/31 |
| 17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
| 11-116884789-G-A | SIK3 | c.274-57009C>T | - | intron_variant | - | 1/23 |
| 1-62931632-C-A | DOCK7 | c.6119+8021G>T | - | IntronicSNV | - | 47/48 |
| 17-64210580-A-G | APOH | c.973T>C | p.Cys325Arg | Missense | 7/8 | - |
| 1-55597067-A-G | USP24 | c.3537+1151T>C | - | IntronicSNV | - | 31/67 |
| 1-156700651-T-G | RRNAD1 | c.112-1132T>G | - | IntronicSNV | - | 1/7 |
| 11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
| 10-1641948-C-T | ADARB2 | c.100+137297G>A | - | IntronicSNV | - | 1/9 |
| 3-12628920-G-C | RAF1 | c.1417+170C>G | - | IntronicSNV | - | 13/16 |
| 11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
| 15-58726744-G-C | LIPC | c.88+2425G>C | - | IntronicSNV | - | 1/8 |
| 10-113933886-A-T | GPAM | c.414-283T>A | - | IntronicSNV | - | 6/21 |
| 7-44552209-T-C | NPC1L1 | c.*837A>G | - | 3-UTRSNV | 20/20 | - |
| 7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
| 10-113933886-A-G | GPAM | c.414-283T>C | - | IntronicSNV | - | 6/21 |
| 4-89741269-G-C | FAM13A | c.29+2858C>G | - | IntronicSNV | - | 1/17 |
| 4-89741269-G-A | FAM13A | c.29+2858C>T | - | IntronicSNV | - | 1/17 |
| X-66942625-G-A | AR | c.2450-44G>A | - | IntronicSNV | - | 6/7 |
| 1-109814880-C-T | CELSR2 | c.7927-20C>T | - | IntronicSNV | - | 28/33 |
| 12-9082581-A-G | PHC1 | c.613-450A>G | - | IntronicSNV | - | 6/14 |
| 19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
| 3-132163200-G-T | DNAJC13 | c.69-2119G>T | - | IntronicSNV | - | 2/55 |
| 17-64210580-A-C | APOH | c.973T>G | p.Cys325Gly | Missense | 7/8 | - |
| 6-116312893-A-T | FRK | c.466+12147T>A | - | IntronicSNV | - | 2/7 |
| 20-2520107-A-G | TMC2 | c.82+2145A>G | - | IntronicSNV | - | 2/19 |
| 20-2520107-A-C | TMC2 | c.82+2145A>C | - | IntronicSNV | - | 2/19 |
| 2-63149557-G-A | EHBP1 | c.1291-20296G>A | - | IntronicSNV | - | 11/24 |
| 2-136381348-G-A | R3HDM1 | c.497+1046G>A | - | IntronicSNV | - | 7/25 |
| 5-74636484-C-A | HMGCR | c.1-1947C>A | - | IntronicSNV | - | 1/19 |
| 16-53809247-G-C | FTO | c.46-34805G>C | - | IntronicSNV | - | 1/8 |
| 6-32412435-G-A | HLA-DRA | c.*18G>A | - | 3_prime_UTR_variant | 5/5 | - |
| 5-35953320-C-T | UGT3A1 | c.*984G>A | - | 3-UTRSNV | 7/7 | - |
| 19-45477381-G-A | CLPTM1 | c.310-315G>A | - | IntronicSNV | - | 3/13 |
| 2-118849850-A-G | INSIG2 | c.-139+3733A>G | - | intron_variant | - | 1/5 |
| 1-230304988-A-G | GALNT2 | c.127-8976A>G | - | IntronicSNV | - | 1/15 |
| 19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
| 1-179272116-T-A | SOAT1 | c.118+179T>A | - | IntronicSNV | - | 2/15 |
| 3-12421238-C-G | PPARG | c.34C>G | p.Pro12Ala | Missense | 2/7 | - |
| 2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
| 22-17072483-A-G | CCT8L2 | c.958T>C | p.Trp320Arg | Missense | 1/1 | - |
| 19-33899065-G-A | PEPD | c.818+3513C>T | - | IntronicSNV | - | 11/14 |
| 5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
| 20-39672618-T-A | TOP1 | c.58+14523T>A | - | IntronicSNV | - | 2/20 |
| 12-125328779-G-A | SCARB1 | c.126+19362C>T | - | IntronicSNV | - | 1/12 |
| 1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
| 10-46013277-A-C | MARCH8 | c.102+15281T>G | - | IntronicSNV | - | 2/6 |
| 1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
| 12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
| 11-116662579-C-T | APOA5 | c.1-3G>A | - | 5-UTRSNV | 2/4 | - |
| 1-179269444-T-C | SOAT1 | c.1-2376T>C | - | IntronicSNV | - | 1/15 |
| 2-21225753-C-T | APOB | c.12541G>A | p.Glu4181Lys | Missense | 29/29 | - |
| 1-93009438-C-A | EVI5 | c.2118+19761G>T | - | IntronicSNV | - | 17/17 |
| 6-89889461-G-C | GABRR1 | c.1095+550C>G | - | IntronicSNV | - | 8/8 |
| 6-89889461-G-A | GABRR1 | c.1095+550C>T | - | IntronicSNV | - | 8/8 |
| 9-15296034-C-A | TTC39B | c.240+11048G>T | - | IntronicSNV | - | 1/19 |
| 5-74655726-C-T | HMGCR | c.2458-84C>T | - | IntronicSNV | - | 18/19 |
| 7-87032613-A-G | ABCB4 | c.3487-16T>C | - | IntronicSNV | - | 26/27 |
| 3-118948171-A-G | B4GALT4 | c.253+523T>C | - | IntronicSNV | - | 3/7 |
| 2-135907088-A-G | RAB3GAP1 | c.1924-851A>G | - | IntronicSNV | - | 17/23 |
| 2-169830155-G-A | ABCB11 | c.1434+70C>T | - | IntronicSNV | - | 13/27 |
| 16-57005479-C-A | CETP | c.658+186C>A | - | IntronicSNV | - | 7/15 |
| 16-56919348-C-G | SLC12A3 | c.1925+72C>G | - | IntronicSNV | - | 15/25 |
| 16-56919348-C-A | SLC12A3 | c.1925+72C>A | - | IntronicSNV | - | 15/25 |
| 6-31625541-C-A | APOM | c.541+41C>A | - | IntronicSNV | - | 5/5 |
| 2-21232195-G-A | APOB | c.7545C>T | p.Thr2515Thr | Synonymous | 26/29 | - |
| 10-46013277-A-T | MARCH8 | c.102+15281T>A | - | IntronicSNV | - | 2/6 |
| 2-170129547-C-T | LRP2 | c.2006G>A | p.Gly669Asp | Missense | 15/79 | - |
| 1-179315898-C-A | SOAT1 | c.1118-837C>A | - | IntronicSNV | - | 11/15 |
| 3-12353198-C-G | PPARG | c.-3+23679C>G | - | intron_variant | - | 1/6 |
| 2-44074431-C-A | ABCG8 | c.322+981C>A | - | IntronicSNV | - | 3/12 |
| 9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
| 16-81534790-T-A | CMIP | c.18+5691T>A | - | IntronicSNV | - | 1/20 |
| 17-45425115-G-T | EFCAB13 | c.518-59G>T | - | IntronicSNV | - | 8/24 |
| 17-45425115-G-A | EFCAB13 | c.518-59G>A | - | IntronicSNV | - | 8/24 |
| 9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
| 7-94946084-A-G | PON1 | c.163T>C | p.Leu55Leu | Synonymous | 3/9 | - |
| 7-94946084-A-T | PON1 | c.163T>A | p.Leu55Met | Missense | 3/9 | - |
| 9-2636992-T-C | VLDLR | c.202+1420T>C | - | IntronicSNV | - | 2/18 |
| 2-10030024-C-T | TAF1B | c.807+7090C>T | - | IntronicSNV | - | 8/14 |
| 9-15289578-C-T | TTC39B | c.240+17504G>A | - | IntronicSNV | - | 1/19 |
| 11-65391317-G-A | PCNX3 | c.2512-83G>A | - | IntronicSNV | - | 12/34 |
| 1-179323738-C-G | SOAT1 | c.*962C>G | - | 3-UTRSNV | 16/16 | - |
| 9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
| 9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
| 2-211540489-C-A | CPS1 | c.4217C>A | p.Ala1406Asp | Missense | 37/39 | - |
| 5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
| 12-121416650-A-C | HNF1A | c.79A>C | p.Ile27Leu | Missense | 1/10 | - |
| 16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
| 2-44074431-C-T | ABCG8 | c.322+981C>T | - | IntronicSNV | - | 3/12 |
| 3-32533010-C-T | CMTM6 | c.315+192G>A | - | IntronicSNV | - | 2/3 |
| 1-216936881-A-G | ESRRG | c.1-86061T>C | - | IntronicSNV | - | 2/7 |
| 1-216936881-A-C | ESRRG | c.1-86061T>G | - | IntronicSNV | - | 2/7 |
| 20-44576502-T-C | PCIF1 | c.*108T>C | - | 3-UTRSNV | 17/17 | - |
| 22-30378703-C-T | MTMR3 | c.210+3662C>T | - | IntronicSNV | - | 5/19 |
| 3-50129399-C-T | RBM5 | c.18-77C>T | - | IntronicSNV | - | 2/24 |
| 2-136614255-G-A | MCM6 | c.1626+43C>T | - | IntronicSNV | - | 11/16 |
| 8-19819328-T-C | LPL | c.1323-298T>C | - | IntronicSNV | - | 8/9 |
| 8-19809322-G-C | LPL | c.292G>C | p.Ala98Pro | Missense | 3/10 | - |
| 19-11210912-C-G | LDLR | c.81C>G | p.Cys27Trp | Missense | 2/18 | - |
| 19-11210912-C-A | LDLR | c.81C>A | p.Cys27* | Nonsense | 2/18 | - |
| 3-52532118-A-T | STAB1 | c.78+2611A>T | - | IntronicSNV | - | 1/68 |
| 19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
| 2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
| 14-76618827-G-T | GPATCH2L | c.-11+493G>T | - | intron_variant | - | 1/9 |
| 11-47286290-T-C | NR1H3 | c.808+2721T>C | - | IntronicSNV | - | 6/8 |
| 6-160578860-T-C | SLC22A1 | c.1599-688T>C | - | IntronicSNV | - | 10/10 |
| 20-44534651-G-A | PLTP | c.705+256C>T | - | IntronicSNV | - | 8/15 |
| 3-47061183-G-A | SETD2 | c.7431+67C>T | - | IntronicSNV | - | 19/20 |
| 3-47061183-G-C | SETD2 | c.7431+67C>G | - | IntronicSNV | - | 19/20 |
| 1-220973563-C-T | MARC1 | c.753+2207C>T | - | IntronicSNV | - | 4/6 |
| 1-109818306-G-T | CELSR2 | c.*1635G>T | - | 3-UTRSNV | 34/34 | - |
| 12-125265689-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
| 21-43710909-C-G | ABCG1 | c.1427-293C>G | - | IntronicSNV | - | 11/14 |
| 1-63061906-C-T | DOCK7 | c.1683-9611G>A | - | IntronicSNV | - | 14/48 |
| 1-230283764-G-A | GALNT2 | c.127-30200G>A | - | IntronicSNV | - | 1/15 |
| 17-76403984-G-A | PGS1 | c.1402+3814G>A | - | IntronicSNV | - | 7/9 |
| 7-17919258-G-T | SNX13 | c.441-3845C>A | - | IntronicSNV | - | 5/25 |
| 7-17919258-G-A | SNX13 | c.441-3845C>T | - | IntronicSNV | - | 5/25 |
| 1-230326412-G-A | GALNT2 | c.220+12355G>A | - | IntronicSNV | - | 2/15 |
| 7-6449272-A-G | DAGLB | c.*196T>C | - | 3-UTRSNV | 15/15 | - |
| 11-61597212-C-T | FADS2 | c.207+1143C>T | - | IntronicSNV | - | 1/11 |
| 12-124460167-G-T | ZNF664 | c.-757+1600G>T | - | intron_variant | - | 2/4 |
| 15-101867487-C-G | PCSK6 | c.2075-803G>C | - | intron_variant | - | 16/22 |
| 15-101867487-C-T | PCSK6 | c.2075-803G>A | - | intron_variant | - | 16/22 |
| 7-1083777-A-G | C7orf50 | c.130-33998T>C | - | IntronicSNV | - | 2/4 |
| 19-45412053-CTCC-C | APOE | c.500_502delTCC | p.Leu167delLeu | InFrameDeletion | 4/4 | - |
| 3-52532118-A-G | STAB1 | c.78+2611A>G | - | IntronicSNV | - | 1/68 |
| 1-207875175-G-T | CR1L | c.1328+212G>T | - | IntronicSNV | - | 9/11 |
| 1-230304988-A-C | GALNT2 | c.127-8976A>C | - | IntronicSNV | - | 1/15 |
| 11-18632984-T-C | SPTY2D1 | c.1964+40A>G | - | IntronicSNV | - | 5/5 |
| 1-207875175-G-C | CR1L | c.1328+212G>C | - | IntronicSNV | - | 9/11 |
| 18-47362408-A-C | MYO5B | c.5314-614T>G | - | IntronicSNV | - | 38/39 |
| 1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
| 5-53298025-G-A | ARL15 | c.462+111007C>T | - | IntronicSNV | - | 4/4 |
| 15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
| 19-19789528-A-G | ZNF101 | c.131-7A>G | - | IntronicSNV | - | 2/3 |
| 2-135837906-C-A | RAB3GAP1 | c.151-10662C>A | - | IntronicSNV | - | 3/23 |
| 9-15305378-G-C | TTC39B | c.240+1704C>G | - | IntronicSNV | - | 1/19 |
| 2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
| 2-44065090-G-A | ABCG5 | c.148C>T | p.Arg50Cys | Missense | 2/13 | - |
| 2-44065090-G-T | ABCG5 | c.148C>A | p.Arg50Ser | Missense | 2/13 | - |
| 1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
| 1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
| 1-21946396-T-C | RAP1GAP | c.18+112A>G | - | IntronicSNV | - | 4/24 |
| 16-81534790-T-C | CMIP | c.18+5691T>C | - | IntronicSNV | - | 1/20 |
| 12-110000193-C-G | MMAB | c.349-536G>C | - | IntronicSNV | - | 4/8 |
| 11-46743247-T-C | F2 | c.316+857T>C | - | IntronicSNV | - | 4/13 |
| 10-91005854-C-T | LIPA | c.112-304G>A | - | IntronicSNV | - | 2/9 |
| 9-107665739-G-A | ABCA1 | c.66+156C>T | - | IntronicSNV | - | 2/49 |
| 12-125284748-A-G | SCARB1 | c.1050T>C | p.Ala350Ala | Synonymous | 8/13 | - |
| 16-57002732-T-G | CETP | c.234-566T>G | - | IntronicSNV | - | 2/15 |
| 7-44553238-A-G | NPC1L1 | c.3888T>C | p.Val1296Val | Synonymous | 20/20 | - |
| 2-122148174-A-G | CLASP1 | c.3124-2692T>C | - | IntronicSNV | - | 30/39 |
| 12-125284748-A-T | SCARB1 | c.1050T>A | p.Ala350Ala | Synonymous | 8/13 | - |
| 16-57015091-G-C | CETP | c.1168G>C | p.Ala390Pro | Missense | 12/16 | - |
| 19-45395266-G-A | TOMM40 | c.274+320G>A | - | IntronicSNV | - | 2/9 |
| 4-68472059-A-G | STAP1 | c.872A>G | p.Asn291Ser | Missense | 9/9 | - |
| 22-35711098-A-G | TOM1 | c.53-2772A>G | - | IntronicSNV | - | 1/14 |
| 16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
| 9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
| 7-44580876-G-T | NPC1L1 | c.1-18C>A | - | 5-UTRSNV | 1/20 | - |
| 7-44580876-G-A | NPC1L1 | c.1-18C>T | - | 5-UTRSNV | 1/20 | - |
| 9-78576644-G-A | PCSK5 | c.298-24404G>A | - | IntronicSNV | - | 2/36 |
| 8-116599199-T-G | TRPS1 | c.2700+29A>C | - | IntronicSNV | - | 5/6 |
| 2-27722416-G-A | GCKR | c.549+99G>A | - | IntronicSNV | - | 7/18 |
| 8-116599199-T-C | TRPS1 | c.2700+29A>G | - | IntronicSNV | - | 5/6 |
| 3-119560606-T-A | GSK3B | c.1195+1496A>T | - | IntronicSNV | - | 10/10 |
| 3-119560606-T-C | GSK3B | c.1195+1496A>G | - | IntronicSNV | - | 10/10 |
| 16-68024995-G-A | DPEP2 | c.732+23C>T | - | IntronicSNV | - | 6/10 |
| 1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
| 1-63049551-A-G | DOCK7 | c.1801-626T>C | - | IntronicSNV | - | 15/48 |
| 1-63049551-A-C | DOCK7 | c.1801-626T>G | - | IntronicSNV | - | 15/48 |
| 2-234679384-C-T | UGT1A1 | c.1305-1524C>T | - | IntronicSNV | - | 4/4 |