| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 2-44074000-G-A | ABCG8 | c.322+550G>A | - | IntronicSNV | - | 3/12 |
| 19-8280621-C-A | CERS4 | c.-2+4875C>A | - | intron_variant | - | 2/11 |
| 11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
| 6-32609105-G-A | HLA-DQA1 | c.101G>A | p.Cys34Tyr | Missense | 2/5 | - |
| 11-61672645-G-C | RAB3IL1 | c.658-291C>G | - | IntronicSNV | - | 5/9 |
| 1-230304914-A-G | GALNT2 | c.127-9050A>G | - | IntronicSNV | - | 1/15 |
| 14-64389298-A-G | SYNE2 | c.79+13353A>G | - | IntronicSNV | - | 2/115 |
| 22-29451671-A-G | ZNRF3 | c.*2061A>G | - | 3-UTRSNV | 9/9 | - |
| 11-61580635-C-T | FADS1 | c.486+80G>A | - | IntronicSNV | - | 2/11 |
| 10-124610027-G-A | FAM24B | c.5C>T | p.Pro2Leu | Missense | 3/4 | - |
| 12-123200768-T-C | HCAR3 | c.517A>G | p.Thr173Ala | Missense | 1/1 | - |
| 12-123200768-T-G | HCAR3 | c.517A>C | p.Thr173Pro | Missense | 1/1 | - |
| 11-61628266-C-G | FADS2 | c.883-2178C>G | - | IntronicSNV | - | 7/11 |
| 2-44066247-G-A | ABCG8 | c.55G>A | p.Asp19Asn | Missense | 1/13 | - |
| 14-64350775-G-C | SYNE2 | c.1-25092G>C | - | IntronicSNV | - | 1/115 |
| 19-11275139-A-C | KANK2 | c.*2095T>G | - | 3-UTRSNV | 11/11 | - |
| 8-19816934-T-C | LPL | c.1139+43T>C | - | IntronicSNV | - | 7/9 |
| 11-61604967-C-T | FADS2 | c.208-283C>T | - | IntronicSNV | - | 1/11 |
| 19-8285894-A-G | CERS4 | c.-2+10148A>G | - | intron_variant | - | 2/11 |
| 11-109995944-C-T | ZC3H12C | c.22-11444C>T | - | IntronicSNV | - | 1/5 |
| 14-64356705-T-C | SYNE2 | c.1-19162T>C | - | IntronicSNV | - | 1/115 |
| 8-19824563-T-C | LPL | c.*1742T>C | - | 3-UTRSNV | 10/10 | - |
| 11-61610750-G-T | FADS2 | c.618+2553G>T | - | IntronicSNV | - | 4/11 |
| 19-8280621-C-G | CERS4 | c.-2+4875C>G | - | intron_variant | - | 2/11 |
| 11-61618012-C-T | FADS2 | c.744+2256C>T | - | IntronicSNV | - | 5/11 |
| 2-44075483-T-C | ABCG8 | c.322+2033T>C | - | IntronicSNV | - | 3/12 |
| 11-61600342-A-C | FADS2 | c.207+4273A>C | - | IntronicSNV | - | 1/11 |
| 11-61552680-G-T | MYRF | c.3181-592G>T | - | IntronicSNV | - | 24/25 |
| 15-45654327-A-G | GATM | c.1252T>C | p.Leu418Leu | Synonymous | 9/9 | - |
| 15-45654327-A-C | GATM | c.1252T>G | p.Leu418Val | Missense | 9/9 | - |
| 15-45654327-A-T | GATM | c.1252T>A | p.Leu418Ile | Missense | 9/9 | - |
| 5-74639259-T-G | HMGCR | c.166-419T>G | - | IntronicSNV | - | 2/19 |
| 11-61729063-C-T | BEST1 | c.1101-664C>T | - | IntronicSNV | - | 9/10 |
| 11-2936952-G-T | SLC22A18 | c.537-900G>T | - | IntronicSNV | - | 5/10 |
| 7-72856269-G-A | BAZ1B | c.*257C>T | - | IntronicSNV | - | 19/19 |
| 18-19330721-G-A | MIB1 | c.229+8948G>A | - | IntronicSNV | - | 1/20 |
| 13-32953388-T-C | BRCA2 | c.8755-66T>C | - | IntronicSNV | - | 21/26 |
| 17-4683035-G-C | TM4SF5 | c.178-1049G>C | - | IntronicSNV | - | 1/4 |
| 14-64380081-C-A | SYNE2 | c.79+4136C>A | - | IntronicSNV | - | 2/115 |
| 11-61505583-G-A | DAGLA | c.1584-24G>A | - | IntronicSNV | - | 15/19 |
| 11-61621040-G-T | FADS2 | c.745-3443G>T | - | IntronicSNV | - | 5/11 |
| 11-61546592-A-G | MYRF | c.1987-143A>G | - | IntronicSNV | - | 14/25 |
| 9-28414339-A-G | LINGO2 | c.-278-41473T>C | - | intron_variant | - | 3/6 |
| 14-64476680-T-A | SYNE2 | c.4578-4T>A | - | IntronicSNV | - | 31/115 |
| 5-53300662-A-G | ARL15 | c.462+108370T>C | - | IntronicSNV | - | 4/4 |
| 16-69385641-A-G | TMED6 | c.16T>C | p.Phe6Leu | Missense | 1/4 | - |
| 11-61621040-G-C | FADS2 | c.745-3443G>C | - | IntronicSNV | - | 5/11 |
| 11-61621040-G-A | FADS2 | c.745-3443G>A | - | IntronicSNV | - | 5/11 |
| 19-8283819-C-G | CERS4 | c.-2+8073C>G | - | intron_variant | - | 2/11 |
| 19-8283819-C-T | CERS4 | c.-2+8073C>T | - | intron_variant | - | 2/11 |
| 19-8283819-C-A | CERS4 | c.-2+8073C>A | - | intron_variant | - | 2/11 |
| 14-64456413-G-C | SYNE2 | c.2314-716G>C | - | IntronicSNV | - | 19/115 |
| 12-109962795-G-C | UBE3B | c.2568+487G>C | - | IntronicSNV | - | 23/27 |
| 2-203532304-A-G | FAM117B | c.602-28300A>G | - | IntronicSNV | - | 1/7 |
| 14-64456413-G-T | SYNE2 | c.2314-716G>T | - | IntronicSNV | - | 19/115 |
| 2-44055510-C-T | ABCG5 | c.502-256G>A | - | IntronicSNV | - | 4/12 |
| 2-202122995-A-G | CASP8 | c.1-8215A>G | - | IntronicSNV | - | 2/9 |
| 15-45666228-G-T | GATM | c.288+2571C>A | - | IntronicSNV | - | 2/8 |
| 19-55739605-C-T | TMEM86B | c.252G>A | p.Ser84Ser | Synonymous | 2/3 | - |
| 1-23766233-C-T | ASAP3 | c.945-510G>A | - | IntronicSNV | - | 10/24 |
| 14-64416965-A-G | SYNE2 | c.590+241A>G | - | IntronicSNV | - | 7/115 |
| 2-44055510-C-A | ABCG5 | c.502-256G>T | - | IntronicSNV | - | 4/12 |
| 14-64322795-C-T | SYNE2 | c.-52+2934C>T | - | intron_variant | - | 1/115 |
| 15-58934745-T-C | ADAM10 | c.828+1340A>G | - | IntronicSNV | - | 7/15 |
| 12-123796238-C-T | SBNO1 | c.3218-562G>A | - | IntronicSNV | - | 24/31 |
| 14-64435939-G-A | SYNE2 | c.1128+1375G>A | - | IntronicSNV | - | 11/115 |
| 14-64405794-G-A | SYNE2 | c.80-1538G>A | - | IntronicSNV | - | 2/115 |
| 17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
| 8-19821425-T-A | LPL | c.-1-1396T>A | - | IntronicSNV | - | 9/9 |
| 8-19821425-T-G | LPL | c.-1-1396T>G | - | IntronicSNV | - | 9/9 |
| 17-17409560-C-T | PEMT | c.523G>A | p.Val175Met | Missense | 6/7 | - |
| 4-100504664-T-C | MTTP | c.383T>C | p.Ile128Thr | Missense | 4/19 | - |
| 18-19340097-C-T | MIB1 | c.230-5636C>T | - | IntronicSNV | - | 1/20 |
| 14-64395279-C-T | SYNE2 | c.80-12053C>T | - | IntronicSNV | - | 2/115 |
| 15-58731153-G-T | LIPC | c.88+6834G>T | - | IntronicSNV | - | 1/8 |
| 15-58731153-G-A | LIPC | c.88+6834G>A | - | IntronicSNV | - | 1/8 |
| 15-58731153-G-C | LIPC | c.88+6834G>C | - | IntronicSNV | - | 1/8 |
| 14-64365894-G-A | SYNE2 | c.1-9973G>A | - | IntronicSNV | - | 1/115 |
| 14-64365894-G-T | SYNE2 | c.1-9973G>T | - | IntronicSNV | - | 1/115 |
| 12-125264287-T-A | SCARB1 | c.*1-1155A>T | - | intron_variant | - | 12/12 |
| 12-125264287-T-G | SCARB1 | c.*1-1155A>C | - | intron_variant | - | 12/12 |
| 11-61618831-T-C | FADS2 | c.744+3075T>C | - | IntronicSNV | - | 5/11 |
| 11-61490880-C-A | DAGLA | c.410-26C>A | - | IntronicSNV | - | 4/19 |
| 11-61627203-T-C | FADS2 | c.882+2201T>C | - | IntronicSNV | - | 7/11 |
| 14-64376864-G-A | SYNE2 | c.79+919G>A | - | IntronicSNV | - | 2/115 |
| 2-27550967-A-G | GTF3C2 | c.2346T>C | p.Pro782Pro | Synonymous | 17/19 | - |
| 17-4436098-G-C | SPNS2 | c.935+119G>C | - | IntronicSNV | - | 6/12 |
| 14-64458326-A-T | SYNE2 | c.2646+493A>T | - | IntronicSNV | - | 21/115 |
| 9-139368953-G-A | SEC16A | c.3115C>T | p.Arg1039Cys | Missense | 3/32 | - |
| 9-139368953-G-T | SEC16A | c.3115C>A | p.Arg1039Ser | Missense | 3/32 | - |
| 19-54664209-G-C | TMC4 | c.2065C>G | p.Gln689Glu | Missense | 14/15 | - |
| 1-55584844-G-A | USP24 | c.4508+1425C>T | - | IntronicSNV | - | 38/67 |
| 10-113940329-T-G | GPAM | c.127A>C | p.Ile43Leu | Missense | 4/22 | - |
| 14-64320207-G-A | SYNE2 | c.-52+346G>A | - | intron_variant | - | 1/115 |
| 10-113940329-T-C | GPAM | c.127A>G | p.Ile43Val | Missense | 4/22 | - |
| 14-67952394-G-A | TMEM229B | c.1-11754C>T | - | IntronicSNV | - | 1/2 |
| 1-156700651-T-G | RRNAD1 | c.112-1132T>G | - | IntronicSNV | - | 1/7 |
| 19-54674742-C-T | TMC4 | c.310+897G>A | - | intron_variant | - | 2/14 |
| 2-219555262-G-A | STK36 | c.1748G>A | p.Arg583Gln | Missense | 14/27 | - |
| 16-15129970-A-G | PDXDC1 | c.2205A>G | p.Leu735Leu | Synonymous | 23/23 | - |
| 4-100045616-C-T | ADH4 | c.1120G>A | p.Val374Ile | Missense | 9/9 | - |
| 1-27284913-C-A | KDF1 | c.-33+1928G>T | - | intron_variant | - | 1/3 |
| 11-61667879-C-T | RAB3IL1 | c.1000-1027G>A | - | IntronicSNV | - | 8/9 |
| 8-19822810-C-T | LPL | c.-1-11C>T | - | IntronicSNV | - | 9/9 |
| 10-37508450-A-C | ANKRD30A | c.3642A>C | p.Ala1214Ala | Synonymous | 34/36 | - |
| 2-219555262-G-T | STK36 | c.1748G>T | p.Arg583Leu | Missense | 14/27 | - |
| 14-64406280-G-T | SYNE2 | c.80-1052G>T | - | IntronicSNV | - | 2/115 |
| 7-150217309-C-T | GIMAP7 | c.247C>T | p.Arg83Cys | Missense | 2/2 | - |
| 19-45316588-G-T | BCAM | c.586G>T | p.Val196Leu | Missense | 5/15 | - |
| 19-45316588-G-A | BCAM | c.586G>A | p.Val196Ile | Missense | 5/15 | - |
| 20-34116282-T-C | C20orf173 | c.580A>G | p.Lys194Glu | Missense | 4/6 | - |
| 20-34116282-T-G | C20orf173 | c.580A>C | p.Lys194Gln | Missense | 4/6 | - |
| 9-19376255-A-C | RPS6 | c.*36T>G | - | 3-UTRSNV | 6/6 | - |
| 7-17911038-C-T | SNX13 | c.753+2113G>A | - | IntronicSNV | - | 8/25 |
| 12-121420807-G-A | HNF1A | c.326+3910G>A | - | IntronicSNV | - | 1/9 |
| 15-58726744-G-C | LIPC | c.88+2425G>C | - | IntronicSNV | - | 1/8 |
| 14-24871926-C-T | NYNRIN | c.198+3276C>T | - | IntronicSNV | - | 2/8 |
| 1-230307222-T-G | GALNT2 | c.127-6742T>G | - | IntronicSNV | - | 1/15 |
| 3-12628920-G-C | RAF1 | c.1417+170C>G | - | IntronicSNV | - | 13/16 |
| 19-54664752-A-C | TMC4 | c.1854T>G | p.Leu618Leu | Synonymous | 13/15 | - |
| 17-64210580-A-G | APOH | c.973T>C | p.Cys325Arg | Missense | 7/8 | - |
| 6-160840252-G-A | SLC22A3 | c.975+8374G>A | - | IntronicSNV | - | 5/10 |
| 19-8277713-A-G | CERS4 | c.-2+1967A>G | - | intron_variant | - | 2/11 |
| 3-123065778-A-G | ADCY5 | c.1406+851T>C | - | IntronicSNV | - | 3/20 |
| 11-61674118-C-T | RAB3IL1 | c.477G>A | p.Thr159Thr | Synonymous | 5/10 | - |
| 6-11042909-G-A | ELOVL2 | c.3+1552C>T | - | IntronicSNV | - | 1/7 |
| 7-73012042-G-A | MLXIPL | c.1073C>T | p.Ala358Val | Missense | 9/17 | - |
| 9-137549865-C-T | COL5A1 | c.109+15723C>T | - | IntronicSNV | - | 1/65 |
| 14-64339681-T-A | SYNE2 | c.-52+19820T>A | - | intron_variant | - | 1/115 |
| 11-61617753-T-C | FADS2 | c.744+1997T>C | - | IntronicSNV | - | 5/11 |
| 19-54643387-C-A | CNOT3 | c.-51+1678C>A | - | intron_variant | - | 1/17 |
| 11-61601908-A-G | FADS2 | c.208-3342A>G | - | IntronicSNV | - | 1/11 |
| 18-19118966-C-T | ESCO1 | c.2043+915G>A | - | IntronicSNV | - | 9/11 |
| 18-19118966-C-A | ESCO1 | c.2043+915G>T | - | IntronicSNV | - | 9/11 |
| 5-156482101-A-T | HAVCR1 | c.379+111T>A | - | IntronicSNV | - | 2/7 |
| 14-64380275-A-G | SYNE2 | c.79+4330A>G | - | IntronicSNV | - | 2/115 |
| 7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
| 11-61628492-G-A | FADS2 | c.883-1952G>A | - | IntronicSNV | - | 7/11 |
| 11-61641542-G-T | FADS3 | c.1287-205C>A | - | IntronicSNV | - | 11/11 |
| 14-64362363-A-G | SYNE2 | c.1-13504A>G | - | IntronicSNV | - | 1/115 |
| 11-61581764-T-C | FADS1 | c.376-939A>G | - | IntronicSNV | - | 1/11 |
| 10-113933886-A-T | GPAM | c.414-283T>A | - | IntronicSNV | - | 6/21 |
| 10-113933886-A-G | GPAM | c.414-283T>C | - | IntronicSNV | - | 6/21 |
| 11-61647288-G-A | FADS3 | c.324+225C>T | - | IntronicSNV | - | 2/11 |
| 4-89741269-G-C | FAM13A | c.29+2858C>G | - | IntronicSNV | - | 1/17 |
| 4-89741269-G-A | FAM13A | c.29+2858C>T | - | IntronicSNV | - | 1/17 |
| 11-116626258-G-A | BUD13 | c.1766+1604C>T | - | IntronicSNV | - | 9/9 |
| 2-21233972-T-C | APOB | c.5768A>G | p.His1923Arg | Missense | 26/29 | - |
| 17-4452209-A-G | MYBBP1A | c.1431-265T>C | - | IntronicSNV | - | 10/25 |
| 12-9082581-A-G | PHC1 | c.613-450A>G | - | IntronicSNV | - | 6/14 |
| 14-64403126-G-A | SYNE2 | c.80-4206G>A | - | IntronicSNV | - | 2/115 |
| 6-31379109-G-A | MICA | c.586G>A | p.Glu196Lys | Missense | 3/6 | - |
| 19-54676763-C-T | TMC4 | c.50G>A | p.Gly17Glu | Missense | 1/15 | - |
| 19-54676763-C-A | TMC4 | c.50G>T | p.Gly17Val | Missense | 1/15 | - |
| 19-54676763-C-G | TMC4 | c.50G>C | p.Gly17Ala | Missense | 1/15 | - |
| 11-61606642-A-G | FADS2 | c.319-1164A>G | - | IntronicSNV | - | 2/11 |
| 11-61606642-A-C | FADS2 | c.319-1164A>C | - | IntronicSNV | - | 2/11 |
| 14-64330474-A-T | SYNE2 | c.-52+10613A>T | - | intron_variant | - | 1/115 |
| 11-61626921-G-T | FADS2 | c.882+1919G>T | - | IntronicSNV | - | 7/11 |
| 11-116637146-C-T | BUD13 | c.238-984G>A | - | IntronicSNV | - | 2/9 |
| 11-61538401-G-C | MYRF | c.713+404G>C | - | IntronicSNV | - | 5/25 |
| 12-121424861-A-G | HNF1A | c.327-1775A>G | - | IntronicSNV | - | 1/9 |
| 14-65914867-A-G | FUT8 | c.-384-7472A>G | - | intron_variant | - | 1/9 |
| 11-10669228-T-A | MRVI1 | c.198+4344A>T | - | IntronicSNV | - | 1/19 |
| 11-10669228-T-G | MRVI1 | c.198+4344A>C | - | IntronicSNV | - | 1/19 |
| 11-10669228-T-C | MRVI1 | c.198+4344A>G | - | IntronicSNV | - | 1/19 |
| 17-65903006-A-G | BPTF | c.3190+2050A>G | - | IntronicSNV | - | 11/29 |
| 6-151901409-C-T | CCDC170 | c.1093-5615C>T | - | IntronicSNV | - | 6/10 |
| 10-5254847-A-G | AKR1C4 | c.681-110A>G | - | IntronicSNV | - | 6/8 |
| 11-61597461-T-C | FADS2 | c.207+1392T>C | - | IntronicSNV | - | 1/11 |
| 11-61623793-G-A | FADS2 | c.745-690G>A | - | IntronicSNV | - | 5/11 |
| 11-61610750-G-A | FADS2 | c.618+2553G>A | - | IntronicSNV | - | 4/11 |
| 11-61656975-T-C | FADS3 | c.213+1666A>G | - | IntronicSNV | - | 1/11 |
| 2-44058201-G-A | ABCG5 | c.501+707C>T | - | IntronicSNV | - | 4/12 |
| 11-61579463-A-G | FADS1 | c.684+480T>C | - | IntronicSNV | - | 3/11 |
| 11-61596633-C-T | FADS2 | c.207+564C>T | - | IntronicSNV | - | 1/11 |
| 9-107661742-A-C | ABCA1 | c.66+4153T>G | - | IntronicSNV | - | 2/49 |
| 14-64440651-C-T | SYNE2 | c.1129-2630C>T | - | IntronicSNV | - | 11/115 |
| 2-203676105-C-T | ICA1L | c.910+364G>A | - | IntronicSNV | - | 10/13 |
| 17-4871572-G-A | CAMTA2 | c.*479C>T | - | 3-UTRSNV | 23/23 | - |
| 12-123796849-C-T | SBNO1 | c.3218-1173G>A | - | IntronicSNV | - | 24/31 |
| 11-61617676-T-G | FADS2 | c.744+1920T>G | - | IntronicSNV | - | 5/11 |
| 11-61564299-G-T | FEN1 | c.*323G>T | - | 3-UTRSNV | 2/2 | - |
| 3-132163200-G-T | DNAJC13 | c.69-2119G>T | - | IntronicSNV | - | 2/55 |
| 11-61626206-G-A | FADS2 | c.882+1204G>A | - | IntronicSNV | - | 7/11 |
| 14-64395689-T-C | SYNE2 | c.80-11643T>C | - | IntronicSNV | - | 2/115 |
| 6-116312893-A-T | FRK | c.466+12147T>A | - | IntronicSNV | - | 2/7 |
| 11-61617676-T-A | FADS2 | c.744+1920T>A | - | IntronicSNV | - | 5/11 |
| 11-61564299-G-C | FEN1 | c.*323G>C | - | 3-UTRSNV | 2/2 | - |
| 16-53809247-G-C | FTO | c.46-34805G>C | - | IntronicSNV | - | 1/8 |
| 17-4500387-G-A | SMTNL2 | c.676-80G>A | - | IntronicSNV | - | 6/7 |
| 6-32412435-G-A | HLA-DRA | c.*18G>A | - | 3_prime_UTR_variant | 5/5 | - |
| 19-50038017-C-T | RCN3 | c.445+365C>T | - | IntronicSNV | - | 3/6 |
| 11-61631927-G-A | FADS2 | c.1157+669G>A | - | IntronicSNV | - | 10/11 |
| 6-30603519-G-A | ATAT1 | c.538-4635G>A | - | IntronicSNV | - | 6/10 |
| 2-63149557-G-A | EHBP1 | c.1291-20296G>A | - | IntronicSNV | - | 11/24 |
| 15-58742418-G-A | LIPC | c.88+18099G>A | - | IntronicSNV | - | 1/8 |
| 19-54652203-T-G | CNOT3 | c.1215T>G | p.Gly405Gly | Synonymous | 11/18 | - |
| 19-54652203-T-C | CNOT3 | c.1215T>C | p.Gly405Gly | Synonymous | 11/18 | - |
| 19-54652203-T-A | CNOT3 | c.1215T>A | p.Gly405Gly | Synonymous | 11/18 | - |
| 11-2936952-G-A | SLC22A18 | c.537-900G>A | - | IntronicSNV | - | 5/10 |
| 19-50000009-G-A | RPS11 | c.15+281G>A | - | IntronicSNV | - | 1/4 |
| 14-64322064-A-C | SYNE2 | c.-52+2203A>C | - | intron_variant | - | 1/115 |
| 22-45996298-A-G | FBLN1 | c.2084A>G | p.His695Arg | Missense | 17/17 | - |
| 14-64387065-G-C | SYNE2 | c.79+11120G>C | - | IntronicSNV | - | 2/115 |
| 14-64406280-G-C | SYNE2 | c.80-1052G>C | - | IntronicSNV | - | 2/115 |
| 17-64210580-A-C | APOH | c.973T>G | p.Cys325Gly | Missense | 7/8 | - |
| 11-61627811-T-C | FADS2 | c.883-2633T>C | - | IntronicSNV | - | 7/11 |
| 3-11412604-T-C | ATG7 | c.1875+6396T>C | - | IntronicSNV | - | 16/18 |
| 19-8286918-T-A | CERS4 | c.-2+11172T>A | - | intron_variant | - | 2/11 |
| 19-8286918-T-C | CERS4 | c.-2+11172T>C | - | intron_variant | - | 2/11 |
| 11-61605215-A-G | FADS2 | c.208-35A>G | - | IntronicSNV | - | 1/11 |
| 15-58724524-A-G | LIPC | c.88+205A>G | - | IntronicSNV | - | 1/8 |
| 19-50038017-C-A | RCN3 | c.445+365C>A | - | IntronicSNV | - | 3/6 |
| 11-61626973-G-T | FADS2 | c.882+1971G>T | - | IntronicSNV | - | 7/11 |
| 2-54482553-G-C | TSPYL6 | c.736C>G | p.Arg246Gly | Missense | 1/1 | - |
| 6-32052444-C-T | TNXB | c.3191G>A | p.Arg1064His | Missense | 8/44 | - |
| 1-230304988-A-G | GALNT2 | c.127-8976A>G | - | IntronicSNV | - | 1/15 |
| 14-64344741-G-C | SYNE2 | c.-52+24880G>C | - | intron_variant | - | 1/115 |
| 11-61601378-C-T | FADS2 | c.208-3872C>T | - | IntronicSNV | - | 1/11 |
| 14-64372998-C-T | SYNE2 | c.1-2869C>T | - | IntronicSNV | - | 1/115 |
| 14-64372998-C-G | SYNE2 | c.1-2869C>G | - | IntronicSNV | - | 1/115 |
| 2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
| 1-183094547-T-C | LAMC1 | c.2663T>C | p.Leu888Pro | Missense | 15/28 | - |
| 16-72162966-G-T | PMFBP1 | c.1949C>A | p.Thr650Lys | Missense | 13/21 | - |
| 16-72162966-G-A | PMFBP1 | c.1949C>T | p.Thr650Met | Missense | 13/21 | - |
| 18-18542587-T-C | ROCK1 | c.3353-2420A>G | - | IntronicSNV | - | 27/32 |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 11-61549458-A-G | MYRF | c.2911+162A>G | - | IntronicSNV | - | 21/25 |
| 19-54644550-C-G | CNOT3 | c.1-2165C>G | - | IntronicSNV | - | 1/17 |
| 14-64351059-G-A | SYNE2 | c.1-24808G>A | - | IntronicSNV | - | 1/115 |
| 3-37515827-A-G | ITGA9 | c.420+876A>G | - | IntronicSNV | - | 3/27 |
| 19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
| 14-64351169-A-T | SYNE2 | c.1-24698A>T | - | IntronicSNV | - | 1/115 |
| 4-187120211-C-A | CYP4V2 | c.775C>A | p.Gln259Lys | Missense | 6/11 | - |
| 19-7224431-G-A | INSR | c.653-39783C>T | - | IntronicSNV | - | 2/21 |
| 15-58855748-C-T | LIPC | c.1214C>T | p.Thr405Met | Missense | 8/9 | - |
| 2-178370631-A-G | AGPS | c.1545+328A>G | - | IntronicSNV | - | 15/19 |
| 19-33899065-G-A | PEPD | c.818+3513C>T | - | IntronicSNV | - | 11/14 |
| 16-57016092-G-C | CETP | c.1264G>C | p.Val422Leu | Missense | 14/16 | - |
| 11-61601872-C-G | FADS2 | c.208-3378C>G | - | IntronicSNV | - | 1/11 |
| 17-41926126-C-T | CD300LG | c.244C>T | p.Arg82Cys | Missense | 2/7 | - |
| 8-19823674-C-G | LPL | c.*853C>G | - | 3-UTRSNV | 10/10 | - |
| 19-49232226-G-A | RASIP1 | c.1801C>T | p.Arg601Cys | Missense | 5/12 | - |
| 16-56904587-C-G | SLC12A3 | c.791C>G | p.Ala264Gly | Missense | 6/26 | - |
| 11-61601872-C-T | FADS2 | c.208-3378C>T | - | IntronicSNV | - | 1/11 |
| 8-19819724-C-G | LPL | c.1421C>G | p.Ser474* | Nonsense | 9/10 | - |
| 14-64364316-C-T | SYNE2 | c.1-11551C>T | - | IntronicSNV | - | 1/115 |
| 10-46007533-C-T | MARCH8 | c.102+21025G>A | - | IntronicSNV | - | 2/6 |
| 10-46007533-C-G | MARCH8 | c.102+21025G>C | - | IntronicSNV | - | 2/6 |
| 11-61602003-C-G | FADS2 | c.208-3247C>G | - | IntronicSNV | - | 1/11 |
| 15-58741177-C-T | LIPC | c.88+16858C>T | - | IntronicSNV | - | 1/8 |
| 20-39672618-T-A | TOP1 | c.58+14523T>A | - | IntronicSNV | - | 2/20 |
| 14-64422503-A-G | SYNE2 | c.787+870A>G | - | IntronicSNV | - | 8/115 |
| 19-8285894-A-T | CERS4 | c.-2+10148A>T | - | intron_variant | - | 2/11 |
| 19-19610596-C-G | GATAD2A | c.1204+1065C>G | - | IntronicSNV | - | 8/11 |
| 19-19610596-C-T | GATAD2A | c.1204+1065C>T | - | IntronicSNV | - | 8/11 |
| 19-46307406-A-G | RSPH6A | c.1653+104T>C | - | IntronicSNV | - | 3/5 |
| 19-8284346-C-T | CERS4 | c.-2+8600C>T | - | intron_variant | - | 2/11 |
| 16-15131962-A-G | PDXDC1 | c.*1830A>G | - | IntergenicSNV | 23/23 | - |
| 1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
| 11-61598391-A-G | FADS2 | c.207+2322A>G | - | IntronicSNV | - | 1/11 |
| 10-46013277-A-C | MARCH8 | c.102+15281T>G | - | IntronicSNV | - | 2/6 |
| 1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
| 14-64382350-A-G | SYNE2 | c.79+6405A>G | - | IntronicSNV | - | 2/115 |
| 8-10683929-G-C | PINX1 | c.302-175C>G | - | IntronicSNV | - | 4/6 |
| 8-10683929-G-T | PINX1 | c.302-175C>A | - | IntronicSNV | - | 4/6 |
| 18-18546896-T-C | ROCK1 | c.3334A>G | p.Thr1112Ala | Missense | 27/33 | - |
| 6-31600106-C-T | PRRC2A | c.3656C>T | p.Ser1219Phe | Missense | 16/31 | - |
| 6-31600106-C-A | PRRC2A | c.3656C>A | p.Ser1219Tyr | Missense | 16/31 | - |
| 11-61655305-A-G | FADS3 | c.213+3336T>C | - | IntronicSNV | - | 1/11 |
| 12-57789359-G-A | R3HDM2 | c.-36+173C>T | - | intron_variant | - | 2/23 |
| 2-27840640-G-A | ZNF512 | c.1395+202G>A | - | IntronicSNV | - | 13/13 |
| 2-27840640-G-C | ZNF512 | c.1395+202G>C | - | IntronicSNV | - | 13/13 |
| 11-61569306-C-G | FADS1 | c.*577G>C | - | 3-UTRSNV | 12/12 | - |
| 15-59566385-C-T | MYO1E | c.4-1737G>A | - | IntronicSNV | - | 1/27 |
| 5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
| 2-136590746-C-G | LCT | c.655G>C | p.Val219Leu | Missense | 2/17 | - |
| 7-116358044-A-T | MET | c.1201-13678A>T | - | IntronicSNV | - | 2/20 |
| 7-116358044-A-G | MET | c.1201-13678A>G | - | IntronicSNV | - | 2/20 |
| 11-61649030-G-C | FADS3 | c.214-1407C>G | - | IntronicSNV | - | 1/11 |
| 2-136555659-T-C | LCT | c.4916A>G | p.Asn1639Ser | Missense | 13/17 | - |
| 19-11202306-G-T | LDLR | c.67+2015G>T | - | IntronicSNV | - | 1/17 |
| 1-93009438-C-A | EVI5 | c.2118+19761G>T | - | IntronicSNV | - | 17/17 |
| 20-44590298-C-G | ZNF335 | c.1646+411G>C | - | IntronicSNV | - | 10/27 |
| 12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
| 2-234668570-C-T | UGT1A4 | c.868-7110C>T | - | IntronicSNV | - | 1/4 |
| 14-64414680-C-T | SYNE2 | c.409-1863C>T | - | IntronicSNV | - | 6/115 |
| 19-8288542-C-T | CERS4 | c.-2+12796C>T | - | intron_variant | - | 2/11 |
| 19-8288542-C-A | CERS4 | c.-2+12796C>A | - | intron_variant | - | 2/11 |
| 15-58740094-C-T | LIPC | c.88+15775C>T | - | IntronicSNV | - | 1/8 |
| 9-15296034-C-A | TTC39B | c.240+11048G>T | - | IntronicSNV | - | 1/19 |
| 14-64451665-C-T | SYNE2 | c.2151+1061C>T | - | IntronicSNV | - | 18/115 |
| 14-64451665-C-G | SYNE2 | c.2151+1061C>G | - | IntronicSNV | - | 18/115 |
| 8-19823674-C-T | LPL | c.*853C>T | - | 3-UTRSNV | 10/10 | - |
| 19-54670639-C-A | TMC4 | c.814+1258G>T | - | intron_variant | - | 5/14 |
| 19-8290878-A-G | CERS4 | c.-2+15132A>G | - | intron_variant | - | 2/11 |
| 6-10982359-G-A | ELOVL2 | c.*1655C>T | - | 3-UTRSNV | 8/8 | - |
| 14-64376764-T-C | SYNE2 | c.79+819T>C | - | IntronicSNV | - | 2/115 |
| 19-32917455-T-A | DPY19L3 | c.238-6167T>A | - | IntronicSNV | - | 3/18 |
| 15-45698793-T-G | SPATA5L1 | c.1275+1090T>G | - | IntronicSNV | - | 2/7 |
| 16-57016092-G-A | CETP | c.1264G>A | p.Val422Ile | Missense | 14/16 | - |
| 17-4446412-G-A | MYBBP1A | c.2688C>T | p.Arg896Arg | Synonymous | 20/26 | - |
| 6-34824636-A-T | UHRF1BP1 | c.1361A>T | p.Gln454Leu | Missense | 11/21 | - |
| 2-203880992-T-A | NBEAL1 | c.1-116T>A | - | 5-UTRSNV | 2/55 | - |
| 15-45698793-T-A | SPATA5L1 | c.1275+1090T>A | - | IntronicSNV | - | 2/7 |
| 2-44069772-G-A | ABCG8 | c.64-1874G>A | - | IntronicSNV | - | 1/12 |
| 11-61601202-G-A | FADS2 | c.208-4048G>A | - | IntronicSNV | - | 1/11 |
| 2-169830155-G-A | ABCB11 | c.1434+70C>T | - | IntronicSNV | - | 13/27 |
| 14-64436637-A-G | SYNE2 | c.1128+2073A>G | - | IntronicSNV | - | 11/115 |
| 20-17596155-C-A | RRBP1 | c.2672G>T | p.Arg891Leu | Missense | 24/26 | - |
| 6-32813279-C-A | TAP1 | c.*77G>T | - | 3-UTRSNV | 11/11 | - |
| 14-64377042-A-T | SYNE2 | c.79+1097A>T | - | IntronicSNV | - | 2/115 |
| 14-64386922-C-T | SYNE2 | c.79+10977C>T | - | IntronicSNV | - | 2/115 |
| 14-64346190-C-A | SYNE2 | c.-52+26329C>A | - | intron_variant | - | 1/115 |
| 19-54643970-G-A | CNOT3 | c.-51+2261G>A | - | intron_variant | - | 1/17 |
| 11-61551356-T-C | MYRF | c.3033T>C | p.Ser1011Ser | Synonymous | 23/26 | - |
| 4-8122221-G-A | ABLIM2 | c.11-13857C>T | - | IntronicSNV | - | 1/20 |
| 9-107562804-T-C | ABCA1 | c.4760A>G | p.Lys1587Arg | Missense | 35/50 | - |
| 12-121443753-T-G | C12orf43 | c.361+371A>C | - | IntronicSNV | - | 4/5 |
| 2-44074431-C-A | ABCG8 | c.322+981C>A | - | IntronicSNV | - | 3/12 |
| 2-44081627-T-G | ABCG8 | c.964+1620T>G | - | IntronicSNV | - | 6/12 |
| 14-64421945-T-C | SYNE2 | c.787+312T>C | - | IntronicSNV | - | 8/115 |
| 14-64421945-T-G | SYNE2 | c.787+312T>G | - | IntronicSNV | - | 8/115 |
| 11-61613841-A-G | FADS2 | c.619-1790A>G | - | IntronicSNV | - | 4/11 |
| 1-172346548-G-A | DNM3 | c.1894-1610G>A | - | IntronicSNV | - | 17/20 |
| 11-61629747-A-G | FADS2 | c.883-697A>G | - | IntronicSNV | - | 7/11 |
| 6-74120350-C-T | DDX43 | c.1280+1279C>T | - | IntronicSNV | - | 10/16 |
| 22-38546033-T-A | PLA2G6 | c.210-4373A>T | - | IntronicSNV | - | 2/15 |
| 22-38546033-T-C | PLA2G6 | c.210-4373A>G | - | IntronicSNV | - | 2/15 |
| 16-15130594-A-G | PDXDC1 | c.*462A>G | - | 3-UTRSNV | 23/23 | - |
| 6-74120350-C-G | DDX43 | c.1280+1279C>G | - | IntronicSNV | - | 10/16 |
| 11-61648113-C-T | FADS3 | c.214-490G>A | - | IntronicSNV | - | 1/11 |
| 14-64422328-G-A | SYNE2 | c.787+695G>A | - | IntronicSNV | - | 8/115 |
| 11-61539020-C-T | MYRF | c.762C>T | p.Pro254Pro | Synonymous | 6/26 | - |
| 11-61539020-C-G | MYRF | c.762C>G | p.Pro254Pro | Synonymous | 6/26 | - |
| 11-61557826-T-C | TMEM258 | c.113+139A>G | - | IntronicSNV | - | 2/3 |
| 11-61573540-C-T | FADS1 | c.976+596G>A | - | IntronicSNV | - | 6/11 |
| 11-14852490-G-A | PDE3B | c.1956+98G>A | - | IntronicSNV | - | 8/15 |
| 12-121450165-C-T | C12orf43 | c.146-1216G>A | - | IntronicSNV | - | 1/5 |
| 10-46013277-A-T | MARCH8 | c.102+15281T>A | - | IntronicSNV | - | 2/6 |
| 12-121450165-C-A | C12orf43 | c.146-1216G>T | - | IntronicSNV | - | 1/5 |
| 14-64326579-C-T | SYNE2 | c.-52+6718C>T | - | intron_variant | - | 1/115 |
| 14-64387468-T-C | SYNE2 | c.79+11523T>C | - | IntronicSNV | - | 2/115 |
| 11-61526688-G-A | MYRF | c.19+3774G>A | - | IntronicSNV | - | 1/25 |
| 11-61551927-A-C | MYRF | c.3180+70A>C | - | IntronicSNV | - | 24/25 |
| 19-54657069-C-T | CNOT3 | c.2037+333C>T | - | IntronicSNV | - | 16/17 |
| 11-61547237-C-T | MYRF | c.2221-77C>T | - | IntronicSNV | - | 16/25 |
| 11-61670037-C-T | RAB3IL1 | c.900-24G>A | - | IntronicSNV | - | 7/9 |
| 15-58729144-C-T | LIPC | c.88+4825C>T | - | IntronicSNV | - | 1/8 |
| 14-64439927-T-C | SYNE2 | c.1129-3354T>C | - | IntronicSNV | - | 11/115 |
| 14-64439927-T-G | SYNE2 | c.1129-3354T>G | - | IntronicSNV | - | 11/115 |
| 17-45425115-G-T | EFCAB13 | c.518-59G>T | - | IntronicSNV | - | 8/24 |
| 15-40751555-C-A | BAHD1 | c.892C>A | p.Gln298Lys | Missense | 2/7 | - |
| 16-81534790-T-A | CMIP | c.18+5691T>A | - | IntronicSNV | - | 1/20 |
| 6-160961137-T-C | LPA | c.5673A>G | p.Ile1891Met | Missense | 36/39 | - |
| 17-45425115-G-A | EFCAB13 | c.518-59G>A | - | IntronicSNV | - | 8/24 |
| 19-8285607-G-A | CERS4 | c.-2+9861G>A | - | intron_variant | - | 2/11 |
| 11-61582708-T-C | FADS1 | c.375+1319A>G | - | IntronicSNV | - | 1/11 |
| 19-54677167-G-A | MBOAT7 | c.*571C>T | - | 3-UTRSNV | 8/8 | - |
| 19-54677167-G-C | MBOAT7 | c.*571C>G | - | 3-UTRSNV | 8/8 | - |
| 19-54677167-G-T | MBOAT7 | c.*571C>A | - | 3-UTRSNV | 8/8 | - |
| 14-64336630-C-G | SYNE2 | c.-52+16769C>G | - | intron_variant | - | 1/115 |
| 11-61619829-C-A | FADS2 | c.744+4073C>A | - | IntronicSNV | - | 5/11 |
| 11-61619829-C-T | FADS2 | c.744+4073C>T | - | IntronicSNV | - | 5/11 |
| 2-44078853-G-A | ABCG8 | c.453G>A | p.Val151Val | Synonymous | 4/13 | - |
| 2-44078853-G-T | ABCG8 | c.453G>T | p.Val151Val | Synonymous | 4/13 | - |
| 14-64355264-G-A | SYNE2 | c.1-20603G>A | - | IntronicSNV | - | 1/115 |
| 11-61599347-G-A | FADS2 | c.207+3278G>A | - | IntronicSNV | - | 1/11 |
| 11-61629122-G-A | FADS2 | c.883-1322G>A | - | IntronicSNV | - | 7/11 |
| 11-61678754-C-G | RAB3IL1 | c.12-2976G>C | - | IntronicSNV | - | 1/9 |
| 9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
| 11-61611033-T-C | FADS2 | c.618+2836T>C | - | IntronicSNV | - | 4/11 |
| 11-61627833-A-G | FADS2 | c.883-2611A>G | - | IntronicSNV | - | 7/11 |
| 11-61621556-G-C | FADS2 | c.745-2927G>C | - | IntronicSNV | - | 5/11 |
| 17-29629326-A-G | NF1 | c.4773-23512A>G | - | IntronicSNV | - | 35/56 |
| 11-61579381-T-G | FADS1 | c.684+562A>C | - | IntronicSNV | - | 3/11 |
| 19-54675097-T-C | TMC4 | c.310+542A>G | - | intron_variant | - | 2/14 |
| 11-61557868-T-C | TMEM258 | c.113+97A>G | - | IntronicSNV | - | 2/3 |
| 14-64408072-T-C | SYNE2 | c.142-341T>C | - | IntronicSNV | - | 3/115 |
| 11-65391317-G-A | PCNX3 | c.2512-83G>A | - | IntronicSNV | - | 12/34 |
| 17-40257163-T-C | DHX58 | c.1274A>G | p.Gln425Arg | Missense | 10/14 | - |
| 11-61609750-C-T | FADS2 | c.618+1553C>T | - | IntronicSNV | - | 4/11 |
| 8-19821782-T-G | LPL | c.-1-1039T>G | - | IntronicSNV | - | 9/9 |
| 14-64377583-C-T | SYNE2 | c.79+1638C>T | - | IntronicSNV | - | 2/115 |
| 2-44054991-G-A | ABCG5 | c.634+131C>T | - | IntronicSNV | - | 5/12 |
| 2-44054991-G-C | ABCG5 | c.634+131C>G | - | IntronicSNV | - | 5/12 |
| 19-54664752-A-T | TMC4 | c.1854T>A | p.Leu618Leu | Synonymous | 13/15 | - |
| 14-64438487-A-G | SYNE2 | c.1128+3923A>G | - | IntronicSNV | - | 11/115 |
| 14-64424634-T-C | SYNE2 | c.787+3001T>C | - | IntronicSNV | - | 8/115 |
| 2-21226560-A-G | APOB | c.12088-354T>C | - | IntronicSNV | - | 28/28 |
| 11-61598288-C-T | FADS2 | c.207+2219C>T | - | IntronicSNV | - | 1/11 |
| 15-58741384-C-T | LIPC | c.88+17065C>T | - | IntronicSNV | - | 1/8 |
| 2-203808532-G-A | CARF | c.306+842G>A | - | IntronicSNV | - | 4/15 |
| 22-38569006-A-G | PLA2G6 | c.1-3573T>C | - | IntronicSNV | - | 1/15 |
| 9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
| 17-4692559-G-T | GLTPD2 | c.145G>T | p.Val49Phe | Missense | 2/4 | - |
| 9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
| 1-62924448-C-T | DOCK7 | c.6120-1072G>A | - | IntronicSNV | - | 47/48 |
| 19-54675643-G-A | TMC4 | c.307C>T | p.His103Tyr | Missense | 2/15 | - |
| 3-32533010-C-T | CMTM6 | c.315+192G>A | - | IntronicSNV | - | 2/3 |
| 17-26694861-G-A | VTN | c.1199C>T | p.Thr400Met | Missense | 7/8 | - |
| 11-61603358-A-T | FADS2 | c.208-1892A>T | - | IntronicSNV | - | 1/11 |
| 5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
| 7-1097183-G-A | C7orf50 | c.130-47404C>T | - | IntronicSNV | - | 2/4 |
| 12-121416650-A-C | HNF1A | c.79A>C | p.Ile27Leu | Missense | 1/10 | - |
| 14-64467727-T-C | SYNE2 | c.3638+290T>C | - | IntronicSNV | - | 28/115 |
| 14-64604595-G-A | SYNE2 | c.14737G>A | p.Glu4913Lys | Missense | 79/116 | - |
| 6-31753526-G-A | VARS | c.1101-16C>T | - | IntronicSNV | - | 8/29 |
| 20-44576502-T-C | PCIF1 | c.*108T>C | - | 3-UTRSNV | 17/17 | - |
| 6-116325142-C-T | FRK | c.364G>A | p.Gly122Arg | Missense | 2/8 | - |
| 22-30378703-C-T | MTMR3 | c.210+3662C>T | - | IntronicSNV | - | 5/19 |
| 2-178370631-A-T | AGPS | c.1545+328A>T | - | IntronicSNV | - | 15/19 |
| 16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
| 11-61571348-C-T | FADS1 | c.1054-109G>A | - | IntronicSNV | - | 7/11 |
| 22-38541266-T-C | PLA2G6 | c.425+179A>G | - | IntronicSNV | - | 3/15 |
| 15-58737341-T-A | LIPC | c.88+13022T>A | - | IntronicSNV | - | 1/8 |
| 7-6449496-T-C | DAGLB | c.1991A>G | p.Gln664Arg | Missense | 15/15 | - |
| 2-44074431-C-T | ABCG8 | c.322+981C>T | - | IntronicSNV | - | 3/12 |
| 15-58737341-T-G | LIPC | c.88+13022T>G | - | IntronicSNV | - | 1/8 |
| 18-47106028-C-T | LIPG | c.794-1757C>T | - | IntronicSNV | - | 5/9 |
| 6-127454893-G-A | RSPO3 | c.97+14459G>A | - | IntronicSNV | - | 1/4 |
| 2-44087024-C-G | ABCG8 | c.964+7017C>G | - | IntronicSNV | - | 6/12 |
| 2-44087024-C-A | ABCG8 | c.964+7017C>A | - | IntronicSNV | - | 6/12 |
| 12-125307053-G-A | SCARB1 | c.127-4800C>T | - | IntronicSNV | - | 1/12 |
| 3-50129399-C-T | RBM5 | c.18-77C>T | - | IntronicSNV | - | 2/24 |
| 11-61624705-T-C | FADS2 | c.805+162T>C | - | IntronicSNV | - | 6/11 |
| 11-61647427-T-G | FADS3 | c.324+86A>C | - | IntronicSNV | - | 2/11 |
| 16-67911517-T-C | EDC4 | c.747T>C | p.Cys249Cys | Synonymous | 6/29 | - |
| 11-61611216-C-T | FADS2 | c.618+3019C>T | - | IntronicSNV | - | 4/11 |
| 2-211540489-C-A | CPS1 | c.4217C>A | p.Ala1406Asp | Missense | 37/39 | - |
| 15-43237414-C-T | UBR1 | c.*113G>A | - | 3-UTRSNV | 47/47 | - |
| 14-64469828-C-T | SYNE2 | c.4177C>T | p.Arg1393Trp | Missense | 30/116 | - |
| 11-61656182-C-A | FADS3 | c.213+2459G>T | - | IntronicSNV | - | 1/11 |
| 2-101627925-C-T | RPL31 | c.346+5392C>T | - | IntronicSNV | - | 4/4 |
| 11-61653164-C-T | FADS3 | c.213+5477G>A | - | IntronicSNV | - | 1/11 |
| 11-61282350-C-T | SYT7 | c.*3749G>A | - | 3-UTRSNV | 9/9 | - |
| 11-61629166-A-G | FADS2 | c.883-1278A>G | - | IntronicSNV | - | 7/11 |
| 11-61615542-C-T | FADS2 | c.619-89C>T | - | IntronicSNV | - | 4/11 |
| 11-61567753-C-A | FADS1 | c.*2130G>T | - | 3-UTRSNV | 12/12 | - |
| 19-8285730-G-C | CERS4 | c.-2+9984G>C | - | intron_variant | - | 2/11 |
| 3-52532118-A-T | STAB1 | c.78+2611A>T | - | IntronicSNV | - | 1/68 |
| 14-64434288-G-A | SYNE2 | c.991-139G>A | - | IntronicSNV | - | 10/115 |
| 3-50093209-G-A | RBM6 | c.1693+1381G>A | - | IntronicSNV | - | 8/20 |
| 2-65284623-T-C | CEP68 | c.-47+961T>C | - | intron_variant | - | 1/6 |
| 13-114527838-G-T | GAS6 | c.1478-1315C>A | - | IntronicSNV | - | 12/14 |
| 12-57809456-C-T | R3HDM2 | c.-106+15047G>A | - | intron_variant | - | 1/23 |
| 11-61647387-G-T | FADS3 | c.324+126C>A | - | IntronicSNV | - | 2/11 |
| 2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
| 11-61629666-A-G | FADS2 | c.883-778A>G | - | IntronicSNV | - | 7/11 |
| 14-64347883-G-A | SYNE2 | c.1-27984G>A | - | IntronicSNV | - | 1/115 |
| 6-160543148-C-T | SLC22A1 | c.181C>T | p.Arg61Cys | Missense | 1/11 | - |
| 14-64366595-A-G | SYNE2 | c.1-9272A>G | - | IntronicSNV | - | 1/115 |
| 19-54645821-A-C | CNOT3 | c.1-894A>C | - | IntronicSNV | - | 1/17 |
| 19-54643414-G-T | CNOT3 | c.-51+1705G>T | - | intron_variant | - | 1/17 |
| 2-44084600-A-T | ABCG8 | c.964+4593A>T | - | IntronicSNV | - | 6/12 |
| 4-69343287-A-G | TMPRSS11E | c.908A>G | p.Tyr303Cys | Missense | 8/10 | - |
| 15-58741177-C-G | LIPC | c.88+16858C>G | - | IntronicSNV | - | 1/8 |
| 3-47061183-G-A | SETD2 | c.7431+67C>T | - | IntronicSNV | - | 19/20 |
| 4-88018991-A-G | AFF1 | c.1262+2870A>G | - | IntronicSNV | - | 7/19 |
| 6-160578860-T-C | SLC22A1 | c.1599-688T>C | - | IntronicSNV | - | 10/10 |
| 8-19824492-T-C | LPL | c.*1671T>C | - | 3-UTRSNV | 10/10 | - |
| 8-19824492-T-A | LPL | c.*1671T>A | - | 3-UTRSNV | 10/10 | - |
| 3-47061183-G-C | SETD2 | c.7431+67C>G | - | IntronicSNV | - | 19/20 |
| 5-156479323-G-C | HAVCR1 | c.673+49C>G | - | IntronicSNV | - | 3/7 |
| 1-220973563-C-T | MARC1 | c.753+2207C>T | - | IntronicSNV | - | 4/6 |
| 10-102075479-G-A | PKD2L1 | c.349+13489C>T | - | IntronicSNV | - | 2/15 |
| 6-32136547-T-G | AGPAT1 | c.*506A>C | - | 3-UTRSNV | 7/7 | - |
| 2-44086591-G-T | ABCG8 | c.964+6584G>T | - | IntronicSNV | - | 6/12 |
| 20-17596155-C-G | RRBP1 | c.2672G>C | p.Arg891Pro | Missense | 24/26 | - |
| 11-116661488-C-T | APOA5 | c.457G>A | p.Val153Met | Missense | 4/4 | - |
| 15-58735005-A-G | LIPC | c.88+10686A>G | - | IntronicSNV | - | 1/8 |
| 12-125265689-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
| 11-61612830-C-T | FADS2 | c.619-2801C>T | - | IntronicSNV | - | 4/11 |
| 19-54676433-C-T | TMC4 | c.78+301G>A | - | intron_variant | - | 1/14 |
| 11-61626270-C-G | FADS2 | c.882+1268C>G | - | IntronicSNV | - | 7/11 |
| 11-61626270-C-T | FADS2 | c.882+1268C>T | - | IntronicSNV | - | 7/11 |
| 3-12450093-G-T | PPARG | c.735+2513G>T | - | IntronicSNV | - | 5/6 |
| 6-160872151-C-T | SLC22A3 | c.*63C>T | - | 3-UTRSNV | 11/11 | - |
| 1-150940625-T-A | CERS2 | c.344A>T | p.Glu115Val | Missense | 4/11 | - |
| 1-150940625-T-G | CERS2 | c.344A>C | p.Glu115Ala | Missense | 4/11 | - |
| 19-11257018-T-C | SPC24 | c.*841A>G | - | IntergenicSNV | 5/5 | - |
| 3-12450093-G-A | PPARG | c.735+2513G>A | - | IntronicSNV | - | 5/6 |
| 14-64470137-C-A | SYNE2 | c.4397+89C>A | - | IntronicSNV | - | 30/115 |
| 14-64390238-G-A | SYNE2 | c.79+14293G>A | - | IntronicSNV | - | 2/115 |
| 14-64390238-G-C | SYNE2 | c.79+14293G>C | - | IntronicSNV | - | 2/115 |
| 14-64334878-G-T | SYNE2 | c.-52+15017G>T | - | intron_variant | - | 1/115 |
| 1-221057646-C-T | HLX | c.1067C>T | p.Pro356Leu | Missense | 4/4 | - |
| 2-165551201-T-C | COBLL1 | c.2815A>G | p.Asn939Asp | Missense | 12/14 | - |
| 11-68703959-A-G | IGHMBP2 | c.2011A>G | p.Thr671Ala | Missense | 13/15 | - |
| 11-61633770-C-G | FADS2 | c.*609C>G | - | 3-UTRSNV | 12/12 | - |
| 11-61616069-A-G | FADS2 | c.744+313A>G | - | IntronicSNV | - | 5/11 |
| 6-32050758-C-T | TNXB | c.3446-655G>A | - | IntronicSNV | - | 8/43 |
| 15-45660758-C-G | GATM | c.485-300G>C | - | IntronicSNV | - | 3/8 |
| 4-47551863-T-G | ATP10D | c.1635+2984T>G | - | IntronicSNV | - | 10/22 |
| 22-41170063-T-C | SLC25A17 | c.694-40A>G | - | IntronicSNV | - | 7/8 |
| 19-54670639-C-T | TMC4 | c.814+1258G>A | - | intron_variant | - | 5/14 |
| 15-58741891-A-G | LIPC | c.88+17572A>G | - | IntronicSNV | - | 1/8 |
| 11-61656585-T-C | FADS3 | c.213+2056A>G | - | IntronicSNV | - | 1/11 |
| 11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
| 11-122526601-C-G | UBASH3B | c.1-157C>G | - | 5-UTRSNV | 1/14 | - |
| 11-122526601-C-T | UBASH3B | c.1-157C>T | - | 5-UTRSNV | 1/14 | - |
| 19-8290909-G-A | CERS4 | c.-2+15163G>A | - | intron_variant | - | 2/11 |
| 15-59377940-C-T | RNF111 | c.2506C>T | p.Pro836Ser | Missense | 10/14 | - |
| 6-32050758-C-A | TNXB | c.3446-655G>T | - | IntronicSNV | - | 8/43 |
| 19-54651333-G-T | CNOT3 | c.895-550G>T | - | IntronicSNV | - | 10/17 |
| 19-54651333-G-C | CNOT3 | c.895-550G>C | - | IntronicSNV | - | 10/17 |
| 1-221057646-C-G | HLX | c.1067C>G | p.Pro356Arg | Missense | 4/4 | - |
| 11-61571382-G-A | FADS1 | c.1054-143C>T | - | IntronicSNV | - | 7/11 |
| 1-109807283-A-C | CELSR2 | c.5464+33A>C | - | IntronicSNV | - | 11/33 |
| 1-109807283-A-T | CELSR2 | c.5464+33A>T | - | IntronicSNV | - | 11/33 |
| 1-897866-C-T | KLHL17 | c.828+15C>T | - | IntronicSNV | - | 5/11 |
| 1-897866-C-G | KLHL17 | c.828+15C>G | - | IntronicSNV | - | 5/11 |
| 1-109818306-G-T | CELSR2 | c.*1635G>T | - | 3-UTRSNV | 34/34 | - |
| 19-33909710-T-G | PEPD | c.672-5161A>C | - | IntronicSNV | - | 9/14 |
| 19-33909710-T-C | PEPD | c.672-5161A>G | - | IntronicSNV | - | 9/14 |
| 12-121443116-A-C | C12orf43 | c.362-220T>G | - | IntronicSNV | - | 4/5 |
| 14-69789755-T-G | GALNT16 | c.336-1654T>G | - | IntronicSNV | - | 2/14 |
| 18-18546896-T-G | ROCK1 | c.3334A>C | p.Thr1112Pro | Missense | 27/33 | - |
| 2-136590746-C-A | LCT | c.655G>T | p.Val219Phe | Missense | 2/17 | - |
| 2-136590746-C-T | LCT | c.655G>A | p.Val219Ile | Missense | 2/17 | - |
| 17-76403984-G-A | PGS1 | c.1402+3814G>A | - | IntronicSNV | - | 7/9 |
| 19-8288298-C-G | CERS4 | c.-2+12552C>G | - | intron_variant | - | 2/11 |
| 19-8288298-C-T | CERS4 | c.-2+12552C>T | - | intron_variant | - | 2/11 |
| 2-54482553-G-A | TSPYL6 | c.736C>T | p.Arg246Cys | Missense | 1/1 | - |
| 19-54645150-A-G | CNOT3 | c.1-1565A>G | - | IntronicSNV | - | 1/17 |
| 2-44063098-G-C | ABCG5 | c.265+1875C>G | - | IntronicSNV | - | 2/12 |
| 2-44063098-G-T | ABCG5 | c.265+1875C>A | - | IntronicSNV | - | 2/12 |
| 14-64364585-G-A | SYNE2 | c.1-11282G>A | - | IntronicSNV | - | 1/115 |
| 19-54646290-T-C | CNOT3 | c.1-425T>C | - | IntronicSNV | - | 1/17 |
| 7-17919258-G-T | SNX13 | c.441-3845C>A | - | IntronicSNV | - | 5/25 |
| 11-61622227-T-C | FADS2 | c.745-2256T>C | - | IntronicSNV | - | 5/11 |
| 7-6449272-A-G | DAGLB | c.*196T>C | - | 3-UTRSNV | 15/15 | - |
| 19-54668487-C-T | TMC4 | c.963-152G>A | - | intron_variant | - | 6/14 |
| 11-61607107-G-A | FADS2 | c.319-699G>A | - | IntronicSNV | - | 2/11 |
| 15-58730498-C-G | LIPC | c.88+6179C>G | - | IntronicSNV | - | 1/8 |
| 15-58730498-C-T | LIPC | c.88+6179C>T | - | IntronicSNV | - | 1/8 |
| 11-61597212-C-T | FADS2 | c.207+1143C>T | - | IntronicSNV | - | 1/11 |
| 11-61633947-C-T | FADS2 | c.*786C>T | - | 3-UTRSNV | 12/12 | - |
| 19-54670837-A-C | TMC4 | c.814+1060T>G | - | intron_variant | - | 5/14 |
| 14-64364585-G-T | SYNE2 | c.1-11282G>T | - | IntronicSNV | - | 1/115 |
| 7-17919258-G-A | SNX13 | c.441-3845C>T | - | IntronicSNV | - | 5/25 |
| 19-54668487-C-G | TMC4 | c.963-152G>C | - | intron_variant | - | 6/14 |
| 11-61657050-C-T | FADS3 | c.213+1591G>A | - | IntronicSNV | - | 1/11 |
| 19-54674478-G-T | TMC4 | c.311-1080C>A | - | intron_variant | - | 2/14 |
| 19-54674478-G-A | TMC4 | c.311-1080C>T | - | intron_variant | - | 2/14 |
| 13-114527838-G-A | GAS6 | c.1478-1315C>T | - | IntronicSNV | - | 12/14 |
| 19-54670837-A-T | TMC4 | c.814+1060T>A | - | intron_variant | - | 5/14 |
| 11-61626206-G-C | FADS2 | c.882+1204G>C | - | IntronicSNV | - | 7/11 |
| 11-61657838-G-A | FADS3 | c.213+803C>T | - | IntronicSNV | - | 1/11 |
| 11-61647387-G-C | FADS3 | c.324+126C>G | - | IntronicSNV | - | 2/11 |
| 7-1083777-A-G | C7orf50 | c.130-33998T>C | - | IntronicSNV | - | 2/4 |
| 12-124460167-G-T | ZNF664 | c.-757+1600G>T | - | intron_variant | - | 2/4 |
| 7-44444122-G-A | NUDCD3 | c.703C>T | p.Arg235Cys | Missense | 4/6 | - |
| 14-64384201-T-A | SYNE2 | c.79+8256T>A | - | IntronicSNV | - | 2/115 |
| 19-7184762-A-G | INSR | c.653-114T>C | - | IntronicSNV | - | 2/21 |
| 3-52532118-A-G | STAB1 | c.78+2611A>G | - | IntronicSNV | - | 1/68 |
| 22-46627780-C-T | PPARA | c.803C>T | p.Ala268Val | Missense | 7/8 | - |
| 11-18632984-T-C | SPTY2D1 | c.1964+40A>G | - | IntronicSNV | - | 5/5 |
| 11-61616977-G-C | FADS2 | c.744+1221G>C | - | IntronicSNV | - | 5/11 |
| 11-61543961-T-C | MYRF | c.1472+57T>C | - | IntronicSNV | - | 10/25 |
| 2-203880992-T-C | NBEAL1 | c.1-116T>C | - | 5-UTRSNV | 2/55 | - |
| 14-64420413-C-T | SYNE2 | c.591-1024C>T | - | IntronicSNV | - | 7/115 |
| 1-230304988-A-C | GALNT2 | c.127-8976A>C | - | IntronicSNV | - | 1/15 |
| 11-61618016-T-C | FADS2 | c.744+2260T>C | - | IntronicSNV | - | 5/11 |
| 14-64413740-G-T | SYNE2 | c.409-2803G>T | - | IntronicSNV | - | 6/115 |
| 12-72179446-C-T | RAB21 | c.671C>T | p.Ser224Phe | Missense | 7/7 | - |
| 19-55738746-G-A | TMEM86B | c.484C>T | p.Leu162Leu | Synonymous | 3/3 | - |
| 11-61616322-A-T | FADS2 | c.744+566A>T | - | IntronicSNV | - | 5/11 |
| 14-64337830-G-A | SYNE2 | c.-52+17969G>A | - | intron_variant | - | 1/115 |
| 14-64337830-G-T | SYNE2 | c.-52+17969G>T | - | intron_variant | - | 1/115 |
| 11-61616322-A-G | FADS2 | c.744+566A>G | - | IntronicSNV | - | 5/11 |
| 6-34824636-A-G | UHRF1BP1 | c.1361A>G | p.Gln454Arg | Missense | 11/21 | - |
| 11-61494327-G-A | DAGLA | c.636+773G>A | - | IntronicSNV | - | 6/19 |
| 19-54653572-C-T | CNOT3 | c.1605+79C>T | - | IntronicSNV | - | 13/17 |
| 19-11222300-G-A | LDLR | c.1171G>A | p.Ala391Thr | Missense | 8/18 | - |
| 11-126244955-G-A | ST3GAL4 | c.-61+18758G>A | - | intron_variant | - | 1/10 |
| 11-61570783-T-C | FADS1 | c.1248+52A>G | - | IntronicSNV | - | 9/11 |
| 9-19376255-A-T | RPS6 | c.*36T>A | - | 3-UTRSNV | 6/6 | - |
| 19-54643970-G-C | CNOT3 | c.-51+2261G>C | - | intron_variant | - | 1/17 |
| 17-4434450-C-T | SPNS2 | c.792+36C>T | - | IntronicSNV | - | 5/12 |
| 11-61605613-C-T | FADS2 | c.318+253C>T | - | IntronicSNV | - | 2/11 |
| 1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
| 4-103198082-A-G | SLC39A8 | c.841-8846T>C | - | IntronicSNV | - | 5/7 |
| 11-61678576-T-G | RAB3IL1 | c.12-2798A>C | - | IntronicSNV | - | 1/9 |
| 4-103188709-C-A | SLC39A8 | c.1171G>T | p.Ala391Ser | Missense | 7/8 | - |
| 14-64377908-A-G | SYNE2 | c.79+1963A>G | - | IntronicSNV | - | 2/115 |
| 11-7367095-T-C | SYT9 | c.1044+31923T>C | - | IntronicSNV | - | 3/6 |
| 19-45410002-G-A | APOE | c.43+78G>A | - | IntronicSNV | - | 2/3 |
| 15-58727279-T-C | LIPC | c.88+2960T>C | - | IntronicSNV | - | 1/8 |
| 19-8289519-C-A | CERS4 | c.-2+13773C>A | - | intron_variant | - | 2/11 |
| 11-61599329-G-A | FADS2 | c.207+3260G>A | - | IntronicSNV | - | 1/11 |
| 11-61599329-G-T | FADS2 | c.207+3260G>T | - | IntronicSNV | - | 1/11 |
| 11-61619294-G-A | FADS2 | c.744+3538G>A | - | IntronicSNV | - | 5/11 |
| 9-107578620-G-A | ABCA1 | c.3542C>T | p.Ser1181Phe | Missense | 25/50 | - |
| 11-61611913-C-T | FADS2 | c.618+3716C>T | - | IntronicSNV | - | 4/11 |
| 19-54665970-C-T | TMC4 | c.1572G>A | p.Gln524Gln | Synonymous | 11/15 | - |
| 4-103188709-C-T | SLC39A8 | c.1171G>A | p.Ala391Thr | Missense | 7/8 | - |
| 14-94844947-C-G | SERPINA1 | c.1096G>C | p.Glu366Gln | Missense | 5/5 | - |
| 14-94844947-C-T | SERPINA1 | c.1096G>A | p.Glu366Lys | Missense | 5/5 | - |
| 5-53298025-G-A | ARL15 | c.462+111007C>T | - | IntronicSNV | - | 4/4 |
| 11-61627881-T-C | FADS2 | c.883-2563T>C | - | IntronicSNV | - | 7/11 |
| 6-160840252-G-T | SLC22A3 | c.975+8374G>T | - | IntronicSNV | - | 5/10 |
| 11-61571348-C-G | FADS1 | c.1054-109G>C | - | IntronicSNV | - | 7/11 |
| 2-272203-C-T | ACP1 | c.231+53C>T | - | IntronicSNV | - | 3/5 |
| 19-54655269-A-G | CNOT3 | c.1606-694A>G | - | IntronicSNV | - | 13/17 |
| 11-61538401-G-T | MYRF | c.713+404G>T | - | IntronicSNV | - | 5/25 |
| 15-44266730-G-A | FRMD5 | c.103-50223C>T | - | IntronicSNV | - | 1/13 |
| 11-47246397-G-T | DDB2 | c.456+7797G>T | - | IntronicSNV | - | 3/9 |
| 6-11005842-T-C | ELOVL2 | c.68-50A>G | - | IntronicSNV | - | 2/7 |
| 11-61629322-T-C | FADS2 | c.883-1122T>C | - | IntronicSNV | - | 7/11 |
| 2-203519783-T-G | FAM117B | c.601+19272T>G | - | IntronicSNV | - | 1/7 |
| 11-61548559-A-G | MYRF | c.2467+42A>G | - | IntronicSNV | - | 19/25 |
| 15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
| 11-47246397-G-C | DDB2 | c.456+7797G>C | - | IntronicSNV | - | 3/9 |
| 2-135837906-C-A | RAB3GAP1 | c.151-10662C>A | - | IntronicSNV | - | 3/23 |
| 9-15305378-G-C | TTC39B | c.240+1704C>G | - | IntronicSNV | - | 1/19 |
| 11-61731977-G-T | FTH1 | c.*222C>A | - | 3-UTRSNV | 4/4 | - |
| 8-19819439-A-G | LPL | c.1323-187A>G | - | IntronicSNV | - | 8/9 |
| 2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
| 10-74637326-T-C | MCU | c.861+5988T>C | - | IntronicSNV | - | 6/7 |
| 2-44065090-G-A | ABCG5 | c.148C>T | p.Arg50Cys | Missense | 2/13 | - |
| 10-74637326-T-A | MCU | c.861+5988T>A | - | IntronicSNV | - | 6/7 |
| 2-44065090-G-T | ABCG5 | c.148C>A | p.Arg50Ser | Missense | 2/13 | - |
| 17-4692640-G-T | GLTPD2 | c.171+55G>T | - | IntronicSNV | - | 2/3 |
| 1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
| 1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
| 3-48229366-C-A | CDC25A | c.72G>T | p.Gln24His | Missense | 1/15 | - |
| 19-19789528-A-G | ZNF101 | c.131-7A>G | - | IntronicSNV | - | 2/3 |
| 3-48229366-C-T | CDC25A | c.72G>A | p.Gln24Gln | Synonymous | 1/15 | - |
| 11-61619181-T-C | FADS2 | c.744+3425T>C | - | IntronicSNV | - | 5/11 |
| 12-110000193-C-G | MMAB | c.349-536G>C | - | IntronicSNV | - | 4/8 |
| 14-64322064-A-G | SYNE2 | c.-52+2203A>G | - | intron_variant | - | 1/115 |
| 16-81534790-T-C | CMIP | c.18+5691T>C | - | IntronicSNV | - | 1/20 |
| 11-61614023-C-T | FADS2 | c.619-1608C>T | - | IntronicSNV | - | 4/11 |
| 14-64409184-G-A | SYNE2 | c.408+323G>A | - | IntronicSNV | - | 6/115 |
| 14-64391907-G-T | SYNE2 | c.80-15425G>T | - | IntronicSNV | - | 2/115 |
| 3-47282303-G-T | KIF9 | c.1912C>A | p.Arg638Arg | Synonymous | 18/22 | - |
| 15-43622265-C-A | LCMT2 | c.423G>T | p.Arg141Ser | Missense | 1/1 | - |
| 15-43622265-C-G | LCMT2 | c.423G>C | p.Arg141Ser | Missense | 1/1 | - |
| 14-64409184-G-C | SYNE2 | c.408+323G>C | - | IntronicSNV | - | 6/115 |
| 19-7831628-G-A | CLEC4M | c.871G>A | p.Asp291Asn | Missense | 5/7 | - |
| 14-64409184-G-T | SYNE2 | c.408+323G>T | - | IntronicSNV | - | 6/115 |
| 9-136149399-G-A | ABO | c.28+1179C>T | - | IntronicSNV | - | 1/7 |
| 3-47282303-G-C | KIF9 | c.1912C>G | p.Arg638Gly | Missense | 18/22 | - |
| 3-47282303-G-A | KIF9 | c.1912C>T | p.Arg638Trp | Missense | 18/22 | - |
| 5-74637711-A-T | HMGCR | c.1-720A>T | - | IntronicSNV | - | 1/19 |
| 11-46743247-T-C | F2 | c.316+857T>C | - | IntronicSNV | - | 4/13 |
| 11-61607168-A-G | FADS2 | c.319-638A>G | - | IntronicSNV | - | 2/11 |
| 11-61618608-A-G | FADS2 | c.744+2852A>G | - | IntronicSNV | - | 5/11 |
| 16-4755108-G-A | ANKS3 | c.856C>T | p.Arg286Trp | Missense | 8/18 | - |
| 20-62695931-G-A | TCEA2 | c.1-1907G>A | - | IntronicSNV | - | 2/10 |
| 11-61624414-T-C | FADS2 | c.745-69T>C | - | IntronicSNV | - | 5/11 |
| 11-116722041-G-T | SIK3 | c.3512-2042C>A | - | intron_variant | - | 20/23 |
| 11-116722041-G-C | SIK3 | c.3512-2042C>G | - | intron_variant | - | 20/23 |
| 11-61656117-G-A | FADS3 | c.213+2524C>T | - | IntronicSNV | - | 1/11 |
| 11-61656117-G-C | FADS3 | c.213+2524C>G | - | IntronicSNV | - | 1/11 |
| 11-61621194-G-A | FADS2 | c.745-3289G>A | - | IntronicSNV | - | 5/11 |
| 14-64346190-C-T | SYNE2 | c.-52+26329C>T | - | intron_variant | - | 1/115 |
| 18-47109955-A-C | LIPG | c.1187A>C | p.Asn396Thr | Missense | 8/10 | - |
| 18-47109955-A-G | LIPG | c.1187A>G | p.Asn396Ser | Missense | 8/10 | - |
| 14-64380110-A-G | SYNE2 | c.79+4165A>G | - | IntronicSNV | - | 2/115 |
| 4-88030261-G-T | AFF1 | c.1512+794G>T | - | IntronicSNV | - | 10/19 |
| 16-57002732-T-G | CETP | c.234-566T>G | - | IntronicSNV | - | 2/15 |
| 19-8285023-C-T | CERS4 | c.-2+9277C>T | - | intron_variant | - | 2/11 |
| 19-54644494-T-C | CNOT3 | c.1-2221T>C | - | IntronicSNV | - | 1/17 |
| 9-136137065-A-C | ABO | c.99-288T>G | - | IntronicSNV | - | 2/7 |
| 16-57015091-G-C | CETP | c.1168G>C | p.Ala390Pro | Missense | 12/16 | - |
| 11-64031241-C-T | PLCB3 | c.2534C>T | p.Ser845Leu | Missense | 21/31 | - |
| 19-53284135-C-T | ZNF600 | c.-99-1975G>A | - | intron_variant | - | 1/2 |
| 19-45395266-G-A | TOMM40 | c.274+320G>A | - | IntronicSNV | - | 2/9 |
| 11-61551356-T-G | MYRF | c.3033T>G | p.Ser1011Arg | Missense | 23/26 | - |
| 11-61551356-T-A | MYRF | c.3033T>A | p.Ser1011Arg | Missense | 23/26 | - |
| 16-81533789-C-G | CMIP | c.18+4690C>G | - | IntronicSNV | - | 1/20 |
| 16-81533789-C-T | CMIP | c.18+4690C>T | - | IntronicSNV | - | 1/20 |
| 11-61582527-C-A | FADS1 | c.375+1500G>T | - | IntronicSNV | - | 1/11 |
| 17-67081278-A-G | ABCA6 | c.4075T>C | p.Cys1359Arg | Missense | 32/39 | - |
| 14-64390195-T-C | SYNE2 | c.79+14250T>C | - | IntronicSNV | - | 2/115 |
| 16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
| 17-8216468-T-C | ARHGEF15 | c.830T>C | p.Leu277Pro | Missense | 3/16 | - |
| 7-44580876-G-T | NPC1L1 | c.1-18C>A | - | 5-UTRSNV | 1/20 | - |
| 2-44086591-G-A | ABCG8 | c.964+6584G>A | - | IntronicSNV | - | 6/12 |
| 3-135798658-C-T | PPP2R3A | c.2631+1363C>T | - | IntronicSNV | - | 7/13 |
| 11-61614595-G-T | FADS2 | c.619-1036G>T | - | IntronicSNV | - | 4/11 |
| 9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
| 11-61633770-C-T | FADS2 | c.*609C>T | - | 3-UTRSNV | 12/12 | - |
| 22-35711098-A-G | TOM1 | c.53-2772A>G | - | IntronicSNV | - | 1/14 |
| 14-67979713-G-A | TMEM229B | c.-192+2090C>T | - | intron_variant | - | 1/2 |
| 19-54651345-A-G | CNOT3 | c.895-538A>G | - | IntronicSNV | - | 10/17 |
| 11-61614595-G-A | FADS2 | c.619-1036G>A | - | IntronicSNV | - | 4/11 |
| 11-61641396-C-T | FADS3 | c.1287-59G>A | - | IntronicSNV | - | 11/11 |
| 7-44580876-G-A | NPC1L1 | c.1-18C>T | - | 5-UTRSNV | 1/20 | - |
| 11-61624181-T-C | FADS2 | c.745-302T>C | - | IntronicSNV | - | 5/11 |
| 11-61657110-C-A | FADS3 | c.213+1531G>T | - | IntronicSNV | - | 1/11 |
| 11-61657110-C-T | FADS3 | c.213+1531G>A | - | IntronicSNV | - | 1/11 |
| 15-59504897-T-C | MYO1E | c.1275+1530A>G | - | IntronicSNV | - | 12/27 |
| 19-54671421-G-A | TMC4 | c.814+476C>T | - | intron_variant | - | 5/14 |
| 19-54671421-G-T | TMC4 | c.814+476C>A | - | intron_variant | - | 5/14 |
| 19-54671421-G-C | TMC4 | c.814+476C>G | - | intron_variant | - | 5/14 |
| 11-61658800-C-T | FADS3 | c.54G>A | p.Ala18Ala | Synonymous | 1/12 | - |
| 13-52374489-T-C | DHRS12 | c.1-694A>G | - | IntronicSNV | - | 1/7 |
| 7-101081274-A-G | COL26A1 | c.282-9697A>G | - | IntronicSNV | - | 2/13 |
| 2-27730940-T-C | GCKR | c.1337T>C | p.Leu446Pro | Missense | 15/19 | - |
| 11-61581656-G-A | FADS1 | c.376-831C>T | - | IntronicSNV | - | 1/11 |
| 14-64383581-T-C | SYNE2 | c.79+7636T>C | - | IntronicSNV | - | 2/115 |
| 19-54670952-C-T | TMC4 | c.814+945G>A | - | intron_variant | - | 5/14 |
| 6-161018174-C-T | LPA | c.3288-1607G>A | - | IntronicSNV | - | 20/38 |
| 19-42584958-C-T | ZNF574 | c.2200C>T | p.Arg734Cys | Missense | 2/2 | - |
| 11-61569830-C-T | FADS1 | c.*53G>A | - | 3-UTRSNV | 12/12 | - |
| 12-107174646-A-C | RIC8B | c.85-3129A>C | - | IntronicSNV | - | 1/8 |
| 5-156479323-G-A | HAVCR1 | c.673+49C>T | - | IntronicSNV | - | 3/7 |
| 1-155106227-A-T | EFNA1 | c.476A>T | p.Asp159Val | Missense | 4/5 | - |
| 2-21225281-C-T | APOB | c.13013G>A | p.Ser4338Asn | Missense | 29/29 | - |
| 14-64390302-C-A | SYNE2 | c.79+14357C>A | - | IntronicSNV | - | 2/115 |
| 22-30888494-C-T | SEC14L4 | c.631G>A | p.Glu211Lys | Missense | 8/12 | - |
| 8-116599199-T-G | TRPS1 | c.2700+29A>C | - | IntronicSNV | - | 5/6 |
| 11-61630104-G-A | FADS2 | c.883-340G>A | - | IntronicSNV | - | 7/11 |
| 11-61630104-G-C | FADS2 | c.883-340G>C | - | IntronicSNV | - | 7/11 |
| 19-54666078-C-A | TMC4 | c.1520-57G>T | - | intron_variant | - | 10/14 |
| 10-113913222-T-C | GPAM | c.*86A>G | - | 3-UTRSNV | 22/22 | - |
| 8-145058986-A-G | PARP10 | c.1184T>C | p.Leu395Pro | Missense | 5/11 | - |
| 11-61611913-C-G | FADS2 | c.618+3716C>G | - | IntronicSNV | - | 4/11 |
| 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 |
| 9-107586753-T-C | ABCA1 | c.2649A>G | p.Ile883Met | Missense | 18/50 | - |
| 11-61674118-C-A | RAB3IL1 | c.477G>T | p.Thr159Thr | Synonymous | 5/10 | - |
| 11-61674118-C-G | RAB3IL1 | c.477G>C | p.Thr159Thr | Synonymous | 5/10 | - |
| 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 |
| 16-67976320-A-T | LCAT | c.694T>A | p.Ser232Thr | Missense | 5/6 | - |
| 2-44079310-C-A | ABCG8 | c.562-183C>A | - | IntronicSNV | - | 4/12 |
| 11-61656995-C-T | FADS3 | c.213+1646G>A | - | IntronicSNV | - | 1/11 |
| 14-67975822-A-C | TMEM229B | c.-192+5981T>G | - | intron_variant | - | 1/2 |
| 6-16145325-A-G | MYLIP | c.1025A>G | p.Asn342Ser | Missense | 6/7 | - |
| 20-33488771-C-T | ACSS2 | c.375-12128C>T | - | IntronicSNV | - | 2/17 |
| 16-67976320-A-C | LCAT | c.694T>G | p.Ser232Ala | Missense | 5/6 | - |
| 11-116633862-G-A | BUD13 | c.443C>T | p.Pro148Leu | Missense | 4/10 | - |
| 14-64380275-A-T | SYNE2 | c.79+4330A>T | - | IntronicSNV | - | 2/115 |
| 19-8291672-T-A | CERS4 | c.-2+15926T>A | - | intron_variant | - | 2/11 |
| 19-8291672-T-G | CERS4 | c.-2+15926T>G | - | intron_variant | - | 2/11 |
| 1-93009438-C-G | EVI5 | c.2118+19761G>C | - | IntronicSNV | - | 17/17 |
| 14-64379476-C-T | SYNE2 | c.79+3531C>T | - | IntronicSNV | - | 2/115 |
| 7-44579180-G-C | NPC1L1 | c.816C>G | p.Leu272Leu | Synonymous | 2/20 | - |
| 17-41931375-A-G | CD300LG | c.682A>G | p.Thr228Ala | Missense | 4/7 | - |
| 7-44579180-G-A | NPC1L1 | c.816C>T | p.Leu272Leu | Synonymous | 2/20 | - |
| 11-61609323-A-G | FADS2 | c.618+1126A>G | - | IntronicSNV | - | 4/11 |
| 20-43042364-C-T | HNF4A | c.416C>T | p.Thr139Ile | Missense | 4/10 | - |
| 1-63078222-A-T | DOCK7 | c.1682+6155T>A | - | IntronicSNV | - | 14/48 |
| 16-67811590-C-A | RANBP10 | c.348-5601G>T | - | IntronicSNV | - | 2/13 |
| 11-61609323-A-T | FADS2 | c.618+1126A>T | - | IntronicSNV | - | 4/11 |
| 19-8278481-T-C | CERS4 | c.-2+2735T>C | - | intron_variant | - | 2/11 |
| 19-8278481-T-A | CERS4 | c.-2+2735T>A | - | intron_variant | - | 2/11 |
| 14-64336630-C-T | SYNE2 | c.-52+16769C>T | - | intron_variant | - | 1/115 |
| 19-54759361-T-C | LILRB5 | c.740A>G | p.Asp247Gly | Missense | 5/13 | - |
| 17-4414135-C-T | SPNS2 | c.371-2407C>T | - | IntronicSNV | - | 1/12 |
| 16-15140211-C-T | NTAN1 | c.359+1088G>A | - | IntronicSNV | - | 4/9 |
| 3-58381287-G-A | PXK | c.721-98G>A | - | IntronicSNV | - | 8/17 |
| 1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
| 11-116896155-A-C | SIK3 | c.274-68375T>G | - | intron_variant | - | 1/23 |
| 14-64358206-C-T | SYNE2 | c.1-17661C>T | - | IntronicSNV | - | 1/115 |
| 11-61628492-G-C | FADS2 | c.883-1952G>C | - | IntronicSNV | - | 7/11 |
| 11-61575158-A-G | FADS1 | c.916-962T>C | - | IntronicSNV | - | 5/11 |
| 11-61575158-A-T | FADS1 | c.916-962T>A | - | IntronicSNV | - | 5/11 |
| 14-64391713-T-C | SYNE2 | c.80-15619T>C | - | IntronicSNV | - | 2/115 |
| 11-61629377-C-T | FADS2 | c.883-1067C>T | - | IntronicSNV | - | 7/11 |
| 14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
| 1-55505647-G-A | PCSK9 | c.137G>A | p.Arg46His | Missense | 1/12 | - |
| 17-7080316-C-T | ASGR1 | c.267G>A | p.Lys89Lys | Synonymous | 4/9 | - |
| 15-58724842-G-A | LIPC | c.88+523G>A | - | IntronicSNV | - | 1/8 |
| 2-44084600-A-G | ABCG8 | c.964+4593A>G | - | IntronicSNV | - | 6/12 |
| 1-63075826-G-A | DOCK7 | c.1682+8551C>T | - | IntronicSNV | - | 14/48 |
| 11-61605578-T-G | FADS2 | c.318+218T>G | - | IntronicSNV | - | 2/11 |
| 19-54645821-A-G | CNOT3 | c.1-894A>G | - | IntronicSNV | - | 1/17 |
| 14-64465351-C-T | SYNE2 | c.3354-281C>T | - | IntronicSNV | - | 26/115 |
| 17-66875294-C-G | ABCA8 | c.3919-1474G>C | - | IntronicSNV | - | 30/37 |
| 11-61615803-C-T | FADS2 | c.744+47C>T | - | IntronicSNV | - | 5/11 |
| 19-11347493-T-C | DOCK6 | c.2136A>G | p.Thr712Thr | Synonymous | 19/48 | - |
| 3-12393125-C-G | PPARG | c.1-28080C>G | - | IntronicSNV | - | 1/6 |
| 17-76395430-C-T | PGS1 | c.513C>T | p.Gly171Gly | Synonymous | 5/10 | - |
| 14-64386452-A-C | SYNE2 | c.79+10507A>C | - | IntronicSNV | - | 2/115 |
| 14-64417617-C-A | SYNE2 | c.590+893C>A | - | IntronicSNV | - | 7/115 |
| 11-66297363-C-A | BBS1 | c.1413C>A | p.Leu471Leu | Synonymous | 14/17 | - |
| 11-61648113-C-G | FADS3 | c.214-490G>C | - | IntronicSNV | - | 1/11 |
| 11-126160826-C-T | TIRAP | c.37C>T | p.Arg13Trp | Missense | 4/5 | - |
| 14-64408852-G-C | SYNE2 | c.399G>C | p.Leu133Leu | Synonymous | 6/116 | - |
| 11-61657401-A-C | FADS3 | c.213+1240T>G | - | IntronicSNV | - | 1/11 |
| 17-77293933-T-C | RBFOX3 | c.-74+9873A>G | - | intron_variant | - | 3/14 |
| 22-41170063-T-A | SLC25A17 | c.694-40A>T | - | IntronicSNV | - | 7/8 |
| 11-116701535-T-C | APOC3 | c.102T>C | p.Gly34Gly | Synonymous | 3/4 | - |
| 11-61731977-G-C | FTH1 | c.*222C>G | - | 3-UTRSNV | 4/4 | - |
| 11-61731977-G-A | FTH1 | c.*222C>T | - | 3-UTRSNV | 4/4 | - |
| 17-4692640-G-A | GLTPD2 | c.171+55G>A | - | IntronicSNV | - | 2/3 |
| 12-110000193-C-T | MMAB | c.349-536G>A | - | IntronicSNV | - | 4/8 |
| 5-131008194-T-C | FNIP1 | c.1943A>G | p.Gln648Arg | Missense | 14/18 | - |
| 5-131008194-T-A | FNIP1 | c.1943A>T | p.Gln648Leu | Missense | 14/18 | - |
| 6-153431125-C-T | RGS17 | c.-26+21134G>A | - | intron_variant | - | 1/4 |
| 19-18304700-A-G | MPV17L2 | c.214A>G | p.Met72Val | Missense | 2/5 | - |
| 19-18304700-A-T | MPV17L2 | c.214A>T | p.Met72Leu | Missense | 2/5 | - |
| 14-64409309-G-C | SYNE2 | c.408+448G>C | - | IntronicSNV | - | 6/115 |
| 14-64409309-G-A | SYNE2 | c.408+448G>A | - | IntronicSNV | - | 6/115 |
| 9-107646756-G-A | ABCA1 | c.254C>T | p.Pro85Leu | Missense | 4/50 | - |
| 11-61605499-T-A | FADS2 | c.318+139T>A | - | IntronicSNV | - | 2/11 |
| 16-15129940-C-T | PDXDC1 | c.2175C>T | p.His725His | Synonymous | 23/23 | - |
| 11-61617339-G-A | FADS2 | c.744+1583G>A | - | IntronicSNV | - | 5/11 |
| 11-61617015-C-G | FADS2 | c.744+1259C>G | - | IntronicSNV | - | 5/11 |
| 11-61613137-C-G | FADS2 | c.619-2494C>G | - | IntronicSNV | - | 4/11 |
| 15-44245931-A-T | FRMD5 | c.103-29424T>A | - | IntronicSNV | - | 1/13 |
| 14-64390302-C-T | SYNE2 | c.79+14357C>T | - | IntronicSNV | - | 2/115 |
| 11-61606683-G-A | FADS2 | c.319-1123G>A | - | IntronicSNV | - | 2/11 |
| 11-61606683-G-C | FADS2 | c.319-1123G>C | - | IntronicSNV | - | 2/11 |
| 19-54759361-T-G | LILRB5 | c.740A>C | p.Asp247Ala | Missense | 5/13 | - |
| 16-15129940-C-A | PDXDC1 | c.2175C>A | p.His725Gln | Missense | 23/23 | - |
| 22-30776095-C-T | RNF215 | c.964G>A | p.Ala322Thr | Missense | 7/9 | - |
| 12-121443116-A-G | C12orf43 | c.362-220T>C | - | IntronicSNV | - | 4/5 |
| 11-61548874-G-A | MYRF | c.2659+73G>A | - | IntronicSNV | - | 20/25 |
| 11-61613137-C-T | FADS2 | c.619-2494C>T | - | IntronicSNV | - | 4/11 |
| 2-27730940-T-G | GCKR | c.1337T>G | p.Leu446Arg | Missense | 15/19 | - |
| 11-61642763-C-T | FADS3 | c.1286+560G>A | - | IntronicSNV | - | 11/11 |
| 11-61569306-C-A | FADS1 | c.*577G>T | - | 3-UTRSNV | 12/12 | - |
| 11-61720537-T-C | BEST1 | c.152+1107T>C | - | IntronicSNV | - | 2/10 |
| 7-72856430-T-C | BAZ1B | c.*96A>G | - | IntronicSNV | - | 19/19 |
| 11-61557803-T-C | TMEM258 | c.113+162A>G | - | IntronicSNV | - | 2/3 |
| 11-61603237-C-T | FADS2 | c.208-2013C>T | - | IntronicSNV | - | 1/11 |
| 15-45659095-G-T | GATM | c.676-389C>A | - | IntronicSNV | - | 4/8 |
| 17-73782191-T-C | UNK | c.104+1126T>C | - | IntronicSNV | - | 1/15 |
| 16-88580796-C-A | ZFPM1 | c.270C>A | p.Asp90Glu | Missense | 4/10 | - |
| 15-45659095-G-A | GATM | c.676-389C>T | - | IntronicSNV | - | 4/8 |
| 14-64363070-C-G | SYNE2 | c.1-12797C>G | - | IntronicSNV | - | 1/115 |
| 11-61615803-C-G | FADS2 | c.744+47C>G | - | IntronicSNV | - | 5/11 |
| 16-88580796-C-T | ZFPM1 | c.270C>T | p.Asp90Asp | Synonymous | 4/10 | - |
| 22-39754367-A-C | SYNGR1 | c.99+8253A>C | - | IntronicSNV | - | 1/3 |
| 3-11400249-C-T | ATG7 | c.1479+163C>T | - | IntronicSNV | - | 13/18 |
| 15-58724792-T-A | LIPC | c.88+473T>A | - | IntronicSNV | - | 1/8 |
| 3-11400249-C-A | ATG7 | c.1479+163C>A | - | IntronicSNV | - | 13/18 |
| 12-57839173-G-T | INHBC | c.314-3887G>T | - | IntronicSNV | - | 1/1 |
| 1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
| 14-64415109-C-T | SYNE2 | c.409-1434C>T | - | IntronicSNV | - | 6/115 |
| 7-150217309-C-G | GIMAP7 | c.247C>G | p.Arg83Gly | Missense | 2/2 | - |
| 19-8298411-G-A | CERS4 | c.1-17550G>A | - | IntronicSNV | - | 2/11 |
| 9-107579632-C-T | ABCA1 | c.3516G>A | p.Glu1172Glu | Synonymous | 24/50 | - |
| 9-107579632-C-G | ABCA1 | c.3516G>C | p.Glu1172Asp | Missense | 24/50 | - |
| 8-116648565-A-C | TRPS1 | c.1-12701T>G | - | IntronicSNV | - | 1/6 |
| 15-58741384-C-G | LIPC | c.88+17065C>G | - | IntronicSNV | - | 1/8 |
| 2-44073656-T-C | ABCG8 | c.322+206T>C | - | IntronicSNV | - | 3/12 |
| 3-50369546-C-A | RASSF1 | c.1-57G>T | - | 5-UTRSNV | 2/5 | - |
| 17-4774814-C-G | MINK1 | c.58-6798C>G | - | IntronicSNV | - | 1/30 |
| 11-61603510-C-T | FADS2 | c.208-1740C>T | - | IntronicSNV | - | 1/11 |
| 17-45732774-C-A | KPNB1 | c.283-1452C>A | - | IntronicSNV | - | 3/21 |
| 4-89740128-G-A | FAM13A | c.29+3999C>T | - | IntronicSNV | - | 1/17 |
| 14-64325281-C-T | SYNE2 | c.-52+5420C>T | - | intron_variant | - | 1/115 |
| 2-165540800-T-C | COBLL1 | c.*1656A>G | - | 3-UTRSNV | 14/14 | - |
| 19-54667748-G-T | TMC4 | c.1131-129C>A | - | intron_variant | - | 7/14 |
| 15-45712339-T-C | SPATA5L1 | c.2095-902T>C | - | IntronicSNV | - | 7/7 |
| 3-12450354-G-A | PPARG | c.735+2774G>A | - | IntronicSNV | - | 5/6 |
| 3-12450354-G-T | PPARG | c.735+2774G>T | - | IntronicSNV | - | 5/6 |
| 16-72052348-A-G | DHODH | c.517+1343A>G | - | IntronicSNV | - | 4/8 |
| 9-15294596-G-A | TTC39B | c.240+12486C>T | - | IntronicSNV | - | 1/19 |
| 10-101912064-T-C | ERLIN1 | c.871A>G | p.Ile291Val | Missense | 11/11 | - |
| 12-124427306-T-A | CCDC92 | c.208A>T | p.Ser70Cys | Missense | 4/5 | - |
| 19-54667748-G-C | TMC4 | c.1131-129C>G | - | intron_variant | - | 7/14 |
| 19-54667748-G-A | TMC4 | c.1131-129C>T | - | intron_variant | - | 7/14 |
| 11-61547068-G-A | MYRF | c.2220+26G>A | - | IntronicSNV | - | 16/25 |
| 11-61603510-C-A | FADS2 | c.208-1740C>A | - | IntronicSNV | - | 1/11 |
| 11-118486067-T-C | PHLDB1 | c.184+670T>C | - | IntronicSNV | - | 4/23 |
| 19-8281635-G-C | CERS4 | c.-2+5889G>C | - | intron_variant | - | 2/11 |
| 19-8281635-G-A | CERS4 | c.-2+5889G>A | - | intron_variant | - | 2/11 |
| 19-8282321-C-G | CERS4 | c.-2+6575C>G | - | intron_variant | - | 2/11 |
| 5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
| 11-61627484-A-G | FADS2 | c.882+2482A>G | - | IntronicSNV | - | 7/11 |
| 19-8282321-C-T | CERS4 | c.-2+6575C>T | - | intron_variant | - | 2/11 |
| 14-64386454-A-G | SYNE2 | c.79+10509A>G | - | IntronicSNV | - | 2/115 |
| 11-47663049-A-G | MTCH2 | c.87+882T>C | - | IntronicSNV | - | 1/12 |
| 11-61604814-C-A | FADS2 | c.208-436C>A | - | IntronicSNV | - | 1/11 |
| 11-61488968-C-T | DAGLA | c.307+606C>T | - | IntronicSNV | - | 3/19 |
| 11-61488968-C-A | DAGLA | c.307+606C>A | - | IntronicSNV | - | 3/19 |
| 6-127452935-C-T | RSPO3 | c.97+12501C>T | - | IntronicSNV | - | 1/4 |
| 17-46022065-G-A | PNPO | c.347G>A | p.Arg116Gln | Missense | 3/7 | - |
| 12-21352315-A-G | SLCO1B1 | c.971-1127A>G | - | IntronicSNV | - | 8/14 |
| 12-121424861-A-C | HNF1A | c.327-1775A>C | - | IntronicSNV | - | 1/9 |
| 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 | - |
| 15-58741884-T-A | LIPC | c.88+17565T>A | - | IntronicSNV | - | 1/8 |
| 15-58741884-T-C | LIPC | c.88+17565T>C | - | IntronicSNV | - | 1/8 |
| 8-11702375-G-A | CTSB | c.*259C>T | - | 3-UTRSNV | 12/12 | - |
| 17-4431836-C-A | SPNS2 | c.574-2091C>A | - | IntronicSNV | - | 3/12 |
| 19-49206417-A-G | FUT2 | c.204A>G | p.Ala68Ala | Synonymous | 2/2 | - |
| 1-27284913-C-T | KDF1 | c.-33+1928G>A | - | intron_variant | - | 1/3 |
| 12-121424861-A-T | HNF1A | c.327-1775A>T | - | IntronicSNV | - | 1/9 |
| 11-61483324-G-C | DAGLA | c.1-4304G>C | - | IntronicSNV | - | 1/19 |
| 7-112722196-G-A | GPR85 | c.*1468C>T | - | 3-UTRSNV | 3/3 | - |
| 16-69385641-A-T | TMED6 | c.16T>A | p.Phe6Ile | Missense | 1/4 | - |
| 11-61604782-A-T | FADS2 | c.208-468A>T | - | IntronicSNV | - | 1/11 |
| 11-61616012-A-G | FADS2 | c.744+256A>G | - | IntronicSNV | - | 5/11 |
| 1-93584606-G-A | MTF2 | c.729-284G>A | - | IntronicSNV | - | 7/14 |
| 14-64335586-G-A | SYNE2 | c.-52+15725G>A | - | intron_variant | - | 1/115 |
| 19-8277616-G-T | CERS4 | c.-2+1870G>T | - | intron_variant | - | 2/11 |
| 19-8277616-G-A | CERS4 | c.-2+1870G>A | - | intron_variant | - | 2/11 |
| 11-61538401-G-A | MYRF | c.713+404G>A | - | IntronicSNV | - | 5/25 |
| 11-61571478-T-C | FADS1 | c.1054-239A>G | - | IntronicSNV | - | 7/11 |
| 11-61677479-G-A | RAB3IL1 | c.12-1701C>T | - | IntronicSNV | - | 1/9 |
| 19-8290909-G-C | CERS4 | c.-2+15163G>C | - | intron_variant | - | 2/11 |
| 14-64349595-G-T | SYNE2 | c.1-26272G>T | - | IntronicSNV | - | 1/115 |
| 2-21225485-C-T | APOB | c.12809G>A | p.Arg4270Lys | Missense | 29/29 | - |
| 11-61549025-G-A | MYRF | c.2660-20G>A | - | IntronicSNV | - | 20/25 |
| 2-44028013-A-T | DYNC2LI1 | c.688A>T | p.Ile230Leu | Missense | 9/13 | - |
| 11-66297363-C-T | BBS1 | c.1413C>T | p.Leu471Leu | Synonymous | 14/17 | - |
| 11-18645843-C-G | SPTY2D1 | c.61-7307G>C | - | IntronicSNV | - | 1/5 |
| 11-18645843-C-A | SPTY2D1 | c.61-7307G>T | - | IntronicSNV | - | 1/5 |
| 15-45653367-G-A | GATM | c.*940C>T | - | 3-UTRSNV | 9/9 | - |
| 11-61604324-T-A | FADS2 | c.208-926T>A | - | IntronicSNV | - | 1/11 |
| 12-111884608-T-C | SH2B3 | c.784T>C | p.Trp262Arg | Missense | 3/8 | - |
| 12-111884608-T-A | SH2B3 | c.784T>A | p.Trp262Arg | Missense | 3/8 | - |
| 14-75322794-G-A | PROX2 | c.927+710C>T | - | IntronicSNV | - | 2/2 |
| 8-19824045-C-A | LPL | c.*1224C>A | - | 3-UTRSNV | 10/10 | - |
| 11-61538606-A-G | MYRF | c.714-366A>G | - | IntronicSNV | - | 5/25 |
| 18-19448691-A-G | MIB1 | c.*4064A>G | - | 3-UTRSNV | 21/21 | - |
| 6-39282806-G-T | KCNK16 | c.902C>A | p.Pro301His | Missense | 6/6 | - |
| 2-239095422-G-T | ILKAP | c.425+1350C>A | - | IntronicSNV | - | 5/11 |
| 2-239095422-G-A | ILKAP | c.425+1350C>T | - | IntronicSNV | - | 5/11 |
| 8-19813529-A-G | LPL | c.953A>G | p.Asn318Ser | Missense | 6/10 | - |
| 2-44066247-G-C | ABCG8 | c.55G>C | p.Asp19His | Missense | 1/13 | - |
| 16-57006590-C-T | CETP | c.750+595C>T | - | IntronicSNV | - | 8/15 |
| 16-57006590-C-G | CETP | c.750+595C>G | - | IntronicSNV | - | 8/15 |
| 15-63414083-A-C | LACTB | c.13A>C | p.Met5Leu | Missense | 1/6 | - |
| 17-7484101-C-G | CD68 | c.760C>G | p.Gln254Glu | Missense | 4/6 | - |
| 19-54657069-C-G | CNOT3 | c.2037+333C>G | - | IntronicSNV | - | 16/17 |
| 9-2640759-A-G | VLDLR | c.326-618A>G | - | IntronicSNV | - | 3/18 |
| 19-8280261-G-A | CERS4 | c.-2+4515G>A | - | intron_variant | - | 2/11 |
| 11-61621611-A-G | FADS2 | c.745-2872A>G | - | IntronicSNV | - | 5/11 |
| 18-18627427-A-C | ROCK1 | c.414+1626T>G | - | IntronicSNV | - | 4/32 |
| 8-116597716-C-T | TRPS1 | c.2700+1512G>A | - | IntronicSNV | - | 5/6 |
| 22-21982892-C-T | YDJC | c.787G>A | p.Ala263Thr | Missense | 5/5 | - |
| 19-54644879-G-A | CNOT3 | c.1-1836G>A | - | IntronicSNV | - | 1/17 |
| 9-117166246-A-G | WHRN | c.2348T>C | p.Val783Ala | Missense | 10/12 | - |
| 2-21232804-G-A | APOB | c.6936C>T | p.Asp2312Asp | Synonymous | 26/29 | - |
| 19-46181392-G-C | GIPR | c.1060G>C | p.Glu354Gln | Missense | 12/14 | - |
| 14-64363070-C-T | SYNE2 | c.1-12797C>T | - | IntronicSNV | - | 1/115 |
| 17-76382791-C-T | PGS1 | c.144-5766C>T | - | IntronicSNV | - | 1/9 |
| 19-52324216-G-C | FPR3 | c.1-2786G>C | - | IntronicSNV | - | 1/1 |
| 19-52324216-G-A | FPR3 | c.1-2786G>A | - | IntronicSNV | - | 1/1 |
| 11-61543499-T-C | MYRF | c.1285-29T>C | - | IntronicSNV | - | 8/25 |
| 6-31101674-C-T | PSORS1C1 | c.13+4252C>T | - | IntronicSNV | - | 3/5 |
| 3-136047977-A-G | PCCB | c.1498+278A>G | - | IntronicSNV | - | 14/14 |
| 18-18677204-G-A | ROCK1 | c.93+13575C>T | - | IntronicSNV | - | 1/32 |
| 15-58725839-A-G | LIPC | c.88+1520A>G | - | IntronicSNV | - | 1/8 |
| 16-15138413-C-T | NTAN1 | c.360-149G>A | - | IntronicSNV | - | 4/9 |
| 20-17596155-C-T | RRBP1 | c.2672G>A | p.Arg891Gln | Missense | 24/26 | - |
| 2-44055922-C-T | ABCG5 | c.502-668G>A | - | IntronicSNV | - | 4/12 |
| 4-3473139-A-G | DOK7 | c.101-1994A>G | - | IntronicSNV | - | 2/6 |
| 18-19111215-C-T | ESCO1 | c.2376-764G>A | - | IntronicSNV | - | 11/11 |
| 11-61597972-A-G | FADS2 | c.207+1903A>G | - | IntronicSNV | - | 1/11 |
| 11-61657926-A-G | FADS3 | c.213+715T>C | - | IntronicSNV | - | 1/11 |
| 9-136137065-A-G | ABO | c.99-288T>C | - | IntronicSNV | - | 2/7 |
| 16-76566157-A-G | CNTNAP4 | c.2753-3285A>G | - | intron_variant | - | 18/24 |
| 9-136146597-C-A | ABO | c.28+3981G>T | - | IntronicSNV | - | 1/7 |
| 9-136146597-C-T | ABO | c.28+3981G>A | - | IntronicSNV | - | 1/7 |
| 14-64386861-T-G | SYNE2 | c.79+10916T>G | - | IntronicSNV | - | 2/115 |
| 2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
| 11-61628915-T-C | FADS2 | c.883-1529T>C | - | IntronicSNV | - | 7/11 |
| 17-7484101-C-T | CD68 | c.760C>T | p.Gln254* | Nonsense | 4/6 | - |
| 15-58735222-A-C | LIPC | c.88+10903A>C | - | IntronicSNV | - | 1/8 |
| 12-123345509-G-T | HIP1R | c.2813G>T | p.Cys938Phe | Missense | 29/32 | - |
| 9-137582767-C-A | COL5A1 | c.119C>A | p.Ala40Glu | Missense | 2/66 | - |
| 17-7484101-C-A | CD68 | c.760C>A | p.Gln254Lys | Missense | 4/6 | - |
| 6-161070990-G-A | LPA | c.209+380C>T | - | IntronicSNV | - | 2/38 |
| 2-44057570-A-C | ABCG5 | c.501+1338T>G | - | IntronicSNV | - | 4/12 |
| 11-61613745-C-T | FADS2 | c.619-1886C>T | - | IntronicSNV | - | 4/11 |
| 16-81533789-C-A | CMIP | c.18+4690C>A | - | IntronicSNV | - | 1/20 |
| 11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |
| 2-44057570-A-G | ABCG5 | c.501+1338T>C | - | IntronicSNV | - | 4/12 |
| 19-19460541-G-C | MAU2 | c.1548+296G>C | - | IntronicSNV | - | 16/18 |
| 11-116662407-G-A | APOA5 | c.56C>T | p.Ser19Leu | Missense | 3/4 | - |
| 11-61650747-G-A | FADS3 | c.214-3124C>T | - | IntronicSNV | - | 1/11 |
| 15-58738423-C-T | LIPC | c.88+14104C>T | - | IntronicSNV | - | 1/8 |
| 2-136522941-G-A | UBXN4 | c.602+3460G>A | - | IntronicSNV | - | 6/12 |
| 2-21225485-C-G | APOB | c.12809G>C | p.Arg4270Thr | Missense | 29/29 | - |
| 14-64354526-A-G | SYNE2 | c.1-21341A>G | - | IntronicSNV | - | 1/115 |
| 2-44056148-A-T | ABCG5 | c.502-894T>A | - | IntronicSNV | - | 4/12 |
| 12-111884608-T-G | SH2B3 | c.784T>G | p.Trp262Gly | Missense | 3/8 | - |
| 14-64354526-A-T | SYNE2 | c.1-21341A>T | - | IntronicSNV | - | 1/115 |
| 19-8429323-G-A | ANGPTL4 | c.118G>A | p.Glu40Lys | Missense | 1/7 | - |
| 11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
| 19-51728641-A-G | CD33 | c.205A>G | p.Arg69Gly | Missense | 2/7 | - |
| 15-58737661-C-A | LIPC | c.88+13342C>A | - | IntronicSNV | - | 1/8 |
| 11-61548796-G-A | MYRF | c.2654G>A | p.Arg885His | Missense | 20/26 | - |
| 12-21331549-T-C | SLCO1B1 | c.521T>C | p.Val174Ala | Missense | 6/15 | - |
| 11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
| 22-46627603-C-T | PPARA | c.712-86C>T | - | IntronicSNV | - | 6/7 |
| 12-109937534-G-A | UBE3B | c.1037G>A | p.Arg346Gln | Missense | 12/28 | - |
| 11-61464124-G-A | DAGLA | c.-45+16148G>A | - | intron_variant | - | 1/19 |
| 16-53809247-G-A | FTO | c.46-34805G>A | - | IntronicSNV | - | 1/8 |
| 9-15294596-G-T | TTC39B | c.240+12486C>A | - | IntronicSNV | - | 1/19 |
| 9-15294596-G-C | TTC39B | c.240+12486C>G | - | IntronicSNV | - | 1/19 |
| 5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
| 11-47246397-G-A | DDB2 | c.456+7797G>A | - | IntronicSNV | - | 3/9 |
| 17-4802946-T-C | CHRNE | c.918-69A>G | - | IntronicSNV | - | 8/11 |
| 12-121416650-A-T | HNF1A | c.79A>T | p.Ile27Phe | Missense | 1/10 | - |
| 16-53800954-T-C | FTO | c.46-43098T>C | - | IntronicSNV | - | 1/8 |
| 11-47270255-C-T | ACP2 | c.86G>A | p.Arg29Gln | Missense | 1/11 | - |
| 19-54654779-C-T | CNOT3 | c.1606-1184C>T | - | IntronicSNV | - | 13/17 |
| 2-21231524-G-A | APOB | c.8216C>T | p.Pro2739Leu | Missense | 26/29 | - |
| 14-64343703-C-T | SYNE2 | c.-52+23842C>T | - | intron_variant | - | 1/115 |
| 19-8288757-C-T | CERS4 | c.-2+13011C>T | - | intron_variant | - | 2/11 |
| 19-8288757-C-A | CERS4 | c.-2+13011C>A | - | intron_variant | - | 2/11 |
| 19-8288757-C-G | CERS4 | c.-2+13011C>G | - | intron_variant | - | 2/11 |
| 2-136522941-G-T | UBXN4 | c.602+3460G>T | - | IntronicSNV | - | 6/12 |
| 11-61623140-C-A | FADS2 | c.745-1343C>A | - | IntronicSNV | - | 5/11 |
| 14-64351684-G-A | SYNE2 | c.1-24183G>A | - | IntronicSNV | - | 1/115 |
| 18-11831761-C-T | GNAL | c.722+6747C>T | - | IntronicSNV | - | 5/11 |
| 2-136522941-G-C | UBXN4 | c.602+3460G>C | - | IntronicSNV | - | 6/12 |
| 11-61607047-G-A | FADS2 | c.319-759G>A | - | IntronicSNV | - | 2/11 |
| 15-58740094-C-G | LIPC | c.88+15775C>G | - | IntronicSNV | - | 1/8 |
| 11-61623140-C-T | FADS2 | c.745-1343C>T | - | IntronicSNV | - | 5/11 |
| 14-64392010-A-G | SYNE2 | c.80-15322A>G | - | IntronicSNV | - | 2/115 |
| 11-61600327-G-A | FADS2 | c.207+4258G>A | - | IntronicSNV | - | 1/11 |
| 5-176637576-T-C | NSD1 | c.1369T>C | p.Ser457Pro | Missense | 6/24 | - |
| 19-54677189-C-T | MBOAT7 | c.*549G>A | - | 3-UTRSNV | 8/8 | - |
| 11-61617339-G-C | FADS2 | c.744+1583G>C | - | IntronicSNV | - | 5/11 |
| 19-54644288-A-G | CNOT3 | c.1-2427A>G | - | IntronicSNV | - | 1/17 |
| 19-45448465-T-A | APOC4 | c.287T>A | p.Leu96His | Missense | 3/3 | - |
| 8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
| 1-220975337-C-T | MARC1 | c.754-3057C>T | - | IntronicSNV | - | 4/6 |
| 2-21231524-G-T | APOB | c.8216C>A | p.Pro2739Gln | Missense | 26/29 | - |
| 19-45448465-T-G | APOC4 | c.287T>G | p.Leu96Arg | Missense | 3/3 | - |
| 14-64454154-A-G | SYNE2 | c.2313+819A>G | - | IntronicSNV | - | 19/115 |
| 3-47045846-C-T | NBEAL2 | c.6161C>T | p.Ser2054Phe | Missense | 37/54 | - |