| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-63049593-C-T | DOCK7 | c.1801-668G>A | - | IntronicSNV | - | 15/48 |
| 10-18708798-A-T | CACNB2 | c.168+17826A>T | - | IntronicSNV | - | 2/12 |
| 3-41877414-T-C | ULK4 | c.1706A>G | p.Lys569Arg | Missense | 18/37 | - |
| 3-138119952-T-C | MRAS | c.527+497T>C | - | IntronicSNV | - | 5/5 |
| 10-91002927-C-T | LIPA | c.229+2506G>A | - | IntronicSNV | - | 3/9 |
| 6-35034800-G-C | ANKS1A | c.2184+6770G>C | - | IntronicSNV | - | 13/23 |
| 3-123094451-T-C | ADCY5 | c.1135-23023A>G | - | IntronicSNV | - | 1/20 |
| 6-127452639-C-G | RSPO3 | c.97+12205C>G | - | IntronicSNV | - | 1/4 |
| 1-56966350-A-G | PLPP3 | c.811-4002T>C | - | IntronicSNV | - | 5/5 |
| 7-107244545-C-T | BCAP29 | c.589+3595C>T | - | IntronicSNV | - | 6/7 |
| 1-63049593-C-G | DOCK7 | c.1801-668G>C | - | IntronicSNV | - | 15/48 |
| 8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
| 11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
| 22-29451671-A-G | ZNRF3 | c.*2061A>G | - | 3-UTRSNV | 9/9 | - |
| 7-72856269-G-A | BAZ1B | c.*257C>T | - | IntronicSNV | - | 19/19 |
| 16-56997233-G-A | CETP | c.233+197G>A | - | IntronicSNV | - | 2/15 |
| 1-62931632-C-A | DOCK7 | c.6119+8021G>T | - | IntronicSNV | - | 47/48 |
| 17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
| 7-72129667-C-T | TYW1B | c.1506+30010G>A | - | intron_variant | - | 12/14 |
| 15-67458639-T-C | SMAD3 | c.533-478T>C | - | IntronicSNV | - | 3/8 |
| 12-123796238-C-T | SBNO1 | c.3218-562G>A | - | IntronicSNV | - | 24/31 |
| 5-173362458-G-A | CPEB4 | c.1258+2955G>A | - | IntronicSNV | - | 3/9 |
| 3-12628920-G-C | RAF1 | c.1417+170C>G | - | IntronicSNV | - | 13/16 |
| 3-85884150-A-G | CADM2 | c.217+32804A>G | - | IntronicSNV | - | 2/9 |
| 3-41912651-G-T | ULK4 | c.1656+12715C>A | - | IntronicSNV | - | 17/36 |
| 4-6303022-C-G | WFS1 | c.1500C>G | p.Asn500Lys | Missense | 8/8 | - |
| 10-113933886-A-G | GPAM | c.414-283T>C | - | IntronicSNV | - | 6/21 |
| 3-41912651-G-A | ULK4 | c.1656+12715C>T | - | IntronicSNV | - | 17/36 |
| 10-113933886-A-T | GPAM | c.414-283T>A | - | IntronicSNV | - | 6/21 |
| 19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
| 10-18707448-T-C | CACNB2 | c.168+16476T>C | - | IntronicSNV | - | 2/12 |
| 20-39672618-T-A | TOP1 | c.58+14523T>A | - | IntronicSNV | - | 2/20 |
| 6-116312893-A-T | FRK | c.466+12147T>A | - | IntronicSNV | - | 2/7 |
| 12-90013089-T-G | ATP2B1 | c.1829+687A>C | - | IntronicSNV | - | 11/20 |
| 12-90013089-T-C | ATP2B1 | c.1829+687A>G | - | IntronicSNV | - | 11/20 |
| 2-161171454-T-C | RBMS1 | c.311-1696A>G | - | IntronicSNV | - | 3/13 |
| 3-169100886-T-C | MECOM | c.38-1574A>G | - | IntronicSNV | - | 1/16 |
| 1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
| 1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
| 12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
| 8-10683929-G-C | PINX1 | c.302-175C>G | - | IntronicSNV | - | 4/6 |
| 8-10683929-G-T | PINX1 | c.302-175C>A | - | IntronicSNV | - | 4/6 |
| 6-20703952-A-G | CDKAL1 | c.372-35798A>G | - | IntronicSNV | - | 5/15 |
| 7-72864869-A-G | BAZ1B | c.3580+308T>C | - | IntronicSNV | - | 14/19 |
| 1-93009438-C-A | EVI5 | c.2118+19761G>T | - | IntronicSNV | - | 17/17 |
| 16-57005479-C-A | CETP | c.658+186C>A | - | IntronicSNV | - | 7/15 |
| 5-74655726-C-T | HMGCR | c.2458-84C>T | - | IntronicSNV | - | 18/19 |
| 11-16902268-C-T | PLEKHA7 | c.222-9539G>A | - | IntronicSNV | - | 3/22 |
| 1-172346548-G-A | DNM3 | c.1894-1610G>A | - | IntronicSNV | - | 17/20 |
| 17-45013271-T-C | GOSR2 | c.*625T>C | - | 3-UTRSNV | 5/5 | - |
| 22-38546033-T-A | PLA2G6 | c.210-4373A>T | - | IntronicSNV | - | 2/15 |
| 22-38546033-T-C | PLA2G6 | c.210-4373A>G | - | IntronicSNV | - | 2/15 |
| 3-169100886-T-A | MECOM | c.38-1574A>T | - | IntronicSNV | - | 1/16 |
| 12-90008959-A-G | ATP2B1 | c.2067+1620T>C | - | IntronicSNV | - | 12/20 |
| 9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
| 17-45425115-G-T | EFCAB13 | c.518-59G>T | - | IntronicSNV | - | 8/24 |
| 17-45425115-G-A | EFCAB13 | c.518-59G>A | - | IntronicSNV | - | 8/24 |
| 1-119503843-C-G | TBX15 | c.-114+28135G>C | - | intron_variant | - | 1/7 |
| 1-119503843-C-A | TBX15 | c.-114+28135G>T | - | intron_variant | - | 1/7 |
| 10-95895940-A-G | PLCE1 | c.1492+3724A>G | - | IntronicSNV | - | 3/32 |
| 9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
| 2-43618819-C-T | THADA | c.4227+6291G>A | - | IntronicSNV | - | 29/37 |
| 9-15289578-C-T | TTC39B | c.240+17504G>A | - | IntronicSNV | - | 1/19 |
| 10-104594507-A-G | CYP17A1 | c.666+35T>C | - | IntronicSNV | - | 3/7 |
| 9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
| 17-46988597-C-T | UBE2Z | c.390+355C>T | - | IntronicSNV | - | 2/6 |
| 9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
| 11-100593538-G-C | ARHGAP42 | c.154+34975G>C | - | IntronicSNV | - | 1/23 |
| 5-95751785-T-C | PCSK1 | c.661A>G | p.Asn221Asp | Missense | 6/14 | - |
| 20-44576502-T-C | PCIF1 | c.*108T>C | - | 3-UTRSNV | 17/17 | - |
| 14-79945162-A-G | NRXN3 | c.429+11417A>G | - | IntronicSNV | - | 2/6 |
| 6-12927544-C-G | PHACTR1 | c.251-126053C>G | - | IntronicSNV | - | 4/14 |
| 19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
| 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 | - |
| 15-91437388-A-C | FES | c.2326+100A>C | - | IntronicSNV | - | 18/18 |
| 15-91437388-A-T | FES | c.2326+100A>T | - | IntronicSNV | - | 18/18 |
| 1-220973563-C-T | MARC1 | c.753+2207C>T | - | IntronicSNV | - | 4/6 |
| 6-20657865-A-G | CDKAL1 | c.371+8257A>G | - | IntronicSNV | - | 5/15 |
| 17-76403984-G-A | PGS1 | c.1402+3814G>A | - | IntronicSNV | - | 7/9 |
| 15-79080234-C-T | ADAMTS7 | c.1322+339G>A | - | IntronicSNV | - | 8/23 |
| 6-20688121-T-G | CDKAL1 | c.371+38513T>G | - | IntronicSNV | - | 5/15 |
| 6-20657564-A-G | CDKAL1 | c.371+7956A>G | - | IntronicSNV | - | 5/15 |
| 12-124460167-G-T | ZNF664 | c.-757+1600G>T | - | intron_variant | - | 2/4 |
| 6-151252985-G-A | MTHFD1L | c.1257-4955G>A | - | IntronicSNV | - | 11/27 |
| 12-90060586-G-A | ATP2B1 | c.1-10923C>T | - | IntergenicSNV | - | 1/20 |
| 16-53845487-C-A | FTO | c.123+1358C>A | - | IntronicSNV | - | 2/8 |
| 16-53845487-C-G | FTO | c.123+1358C>G | - | IntronicSNV | - | 2/8 |
| 11-18632984-T-C | SPTY2D1 | c.1964+40A>G | - | IntronicSNV | - | 5/5 |
| 2-44065090-G-A | ABCG5 | c.148C>T | p.Arg50Cys | Missense | 2/13 | - |
| 5-53298025-G-A | ARL15 | c.462+111007C>T | - | IntronicSNV | - | 4/4 |
| 10-91004886-A-G | LIPA | c.229+547T>C | - | IntronicSNV | - | 3/9 |
| 10-91004886-A-C | LIPA | c.229+547T>G | - | 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 |
| 1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
| 1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
| 12-110000193-C-G | MMAB | c.349-536G>C | - | IntronicSNV | - | 4/8 |
| 2-44065090-G-T | ABCG5 | c.148C>A | p.Arg50Ser | Missense | 2/13 | - |
| 11-46743247-T-C | F2 | c.316+857T>C | - | IntronicSNV | - | 4/13 |
| 15-42683787-G-A | CAPN3 | c.946-1050G>A | - | IntronicSNV | - | 6/23 |
| 6-31616366-G-A | BAG6 | c.552+88C>T | - | IntronicSNV | - | 6/24 |
| 3-52506426-C-T | NISCH | c.669+12C>T | - | IntronicSNV | - | 6/20 |
| 17-36096515-T-C | HNF1B | c.545-2701A>G | - | IntronicSNV | - | 2/8 |
| 17-36096515-T-G | HNF1B | c.545-2701A>C | - | IntronicSNV | - | 2/8 |
| 4-88030261-G-T | AFF1 | c.1512+794G>T | - | IntronicSNV | - | 10/19 |
| 16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
| 7-28196222-A-G | JAZF1 | c.115+23860T>C | - | IntronicSNV | - | 1/4 |
| 3-185530290-T-C | IGF2BP2 | c.239+10651A>G | - | IntronicSNV | - | 2/15 |
| 1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
| 8-116599199-T-G | TRPS1 | c.2700+29A>C | - | IntronicSNV | - | 5/6 |
| 17-47402807-C-T | ZNF652 | c.1-7720G>A | - | IntronicSNV | - | 1/5 |
| 8-116599199-T-C | TRPS1 | c.2700+29A>G | - | IntronicSNV | - | 5/6 |
| 14-79936964-T-C | NRXN3 | c.429+3219T>C | - | IntronicSNV | - | 2/6 |
| 16-53769677-G-A | FTO | c.45+31536G>A | - | IntronicSNV | - | 1/8 |
| 1-93009438-C-G | EVI5 | c.2118+19761G>C | - | IntronicSNV | - | 17/17 |
| 19-11347493-T-C | DOCK6 | c.2136A>G | p.Thr712Thr | Synonymous | 19/48 | - |
| 11-100593538-G-A | ARHGAP42 | c.154+34975G>A | - | IntronicSNV | - | 1/23 |
| 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 | - |
| 14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
| 17-66875294-C-G | ABCA8 | c.3919-1474G>C | - | IntronicSNV | - | 30/37 |
| 15-44245931-A-T | FRMD5 | c.103-29424T>A | - | IntronicSNV | - | 1/13 |
| 11-16902268-C-A | PLEKHA7 | c.222-9539G>T | - | IntronicSNV | - | 3/22 |
| 12-110000193-C-T | MMAB | c.349-536G>A | - | IntronicSNV | - | 4/8 |
| 17-2126504-G-C | SMG6 | c.145+13282C>G | - | IntronicSNV | - | 3/11 |
| 8-116648565-A-C | TRPS1 | c.1-12701T>G | - | IntronicSNV | - | 1/6 |
| 2-165540800-T-C | COBLL1 | c.*1656A>G | - | 3-UTRSNV | 14/14 | - |
| 6-20688121-T-A | CDKAL1 | c.371+38513T>A | - | IntronicSNV | - | 5/15 |
| 12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |