Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-109813719-C-T | CELSR2 | c.7596+58C>T | - | IntronicSNV | - | 25/33 |
17-45479446-A-C | EFCAB13 | c.1946-52A>C | - | IntronicSNV | - | 17/24 |
1-220985350-T-C | MARC1 | c.888-1284T>C | - | IntronicSNV | - | 6/6 |
19-44934842-G-A | ZNF229 | c.239-125C>T | - | IntronicSNV | - | 5/5 |
19-11166827-G-A | SMARCA4 | c.4425-2104G>A | - | IntronicSNV | - | 30/34 |
1-62905893-C-T | USP1 | c.170+185C>T | - | IntronicSNV | - | 2/8 |
6-160998148-G-T | LPA | c.4631+20C>A | - | IntronicSNV | - | 28/38 |
11-61626921-G-T | FADS2 | c.882+1919G>T | - | IntronicSNV | - | 7/11 |
1-109814880-C-T | CELSR2 | c.7927-20C>T | - | IntronicSNV | - | 28/33 |
1-55520864-A-G | PCSK9 | c.800-802A>G | - | IntronicSNV | - | 5/11 |
19-45150433-G-A | PVR | c.80-62G>A | - | IntronicSNV | - | 1/7 |
11-61623793-G-A | FADS2 | c.745-690G>A | - | IntronicSNV | - | 5/11 |
2-44048346-C-T | ABCG5 | c.1464-1107G>A | - | IntronicSNV | - | 10/12 |
1-63135127-G-A | DOCK7 | c.39-6326C>T | - | IntronicSNV | - | 1/48 |
17-45422628-A-G | EFCAB13 | c.517+164A>G | - | IntronicSNV | - | 8/24 |
19-10728320-A-C | SLC44A2 | c.32-8609A>C | - | IntronicSNV | - | 1/21 |
19-10728320-A-G | SLC44A2 | c.32-8609A>G | - | IntronicSNV | - | 1/21 |
12-121419056-T-C | HNF1A | c.326+2159T>C | - | IntronicSNV | - | 1/9 |
2-21257927-T-C | APOB | c.819-154A>G | - | IntronicSNV | - | 7/28 |
11-61617676-T-A | FADS2 | c.744+1920T>A | - | IntronicSNV | - | 5/11 |
19-11139636-G-T | SMARCA4 | c.3382+1010G>T | - | IntronicSNV | - | 24/34 |
11-61617676-T-G | FADS2 | c.744+1920T>G | - | IntronicSNV | - | 5/11 |
19-10904689-G-A | DNM2 | c.1128+158G>A | - | IntronicSNV | - | 8/19 |
1-109794252-T-G | CELSR2 | c.1551T>G | p.Ser517Arg | Missense | 1/34 | - |
1-55047724-G-A | ACOT11 | c.34-2604G>A | - | IntronicSNV | - | 1/16 |
1-55044940-C-T | ACOT11 | c.34-5388C>T | - | IntronicSNV | - | 1/16 |
6-161084156-A-G | LPA | c.49+1042T>C | - | IntronicSNV | - | 1/38 |
12-121424574-G-A | HNF1A | c.327-2062G>A | - | IntronicSNV | - | 1/9 |
12-121424574-G-C | HNF1A | c.327-2062G>C | - | IntronicSNV | - | 1/9 |
20-39713352-A-C | TOP1 | c.614+144A>C | - | IntronicSNV | - | 8/20 |
1-55513061-T-C | PCSK9 | c.523+742T>C | - | IntronicSNV | - | 3/11 |
20-39913632-C-G | ZHX3 | c.-245+14974G>C | - | intron_variant | - | 1/3 |
19-11159096-G-T | SMARCA4 | c.4424+6860G>T | - | IntronicSNV | - | 30/34 |
6-160963230-T-C | LPA | c.5519+490A>G | - | IntronicSNV | - | 34/38 |
1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
5-74955841-G-A | ANKDD1B | c.1095+635G>A | - | IntronicSNV | - | 10/13 |
2-20932743-G-T | LDAH | c.703+6988C>A | - | IntronicSNV | - | 5/6 |
20-39911385-A-G | ZHX3 | c.-244-13662T>C | - | intron_variant | - | 1/3 |
1-109871787-T-G | SORT1 | c.1372-1564A>C | - | IntronicSNV | - | 11/19 |
9-136142217-T-G | ABO | c.29-4646A>C | - | IntronicSNV | - | 1/7 |
1-109877506-A-G | SORT1 | c.1371+1356T>C | - | IntronicSNV | - | 11/19 |
1-55060548-C-T | ACOT11 | c.607+184C>T | - | IntronicSNV | - | 6/16 |
5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
20-39856080-A-C | ZHX3 | c.1-22524T>G | - | IntronicSNV | - | 2/3 |
5-74648496-G-T | HMGCR | c.1368+1069G>T | - | IntronicSNV | - | 11/19 |
19-11159525-G-A | SMARCA4 | c.4424+7289G>A | - | IntronicSNV | - | 30/34 |
7-44573761-C-G | NPC1L1 | c.2166+285G>C | - | IntronicSNV | - | 6/19 |
8-59353534-C-T | UBXN2B | c.671+1205C>T | - | IntronicSNV | - | 6/7 |
1-55052031-G-T | ACOT11 | c.311+454G>T | - | IntronicSNV | - | 3/16 |
1-55052031-G-A | ACOT11 | c.311+454G>A | - | IntronicSNV | - | 3/16 |
11-61611694-G-A | FADS2 | c.618+3497G>A | - | IntronicSNV | - | 4/11 |
20-39709255-T-C | TOP1 | c.431+435T>C | - | IntronicSNV | - | 6/20 |
1-55052071-G-C | ACOT11 | c.311+494G>C | - | IntronicSNV | - | 3/16 |
1-55052071-G-A | ACOT11 | c.311+494G>A | - | IntronicSNV | - | 3/16 |
1-55052071-G-T | ACOT11 | c.311+494G>T | - | IntronicSNV | - | 3/16 |
20-39797465-T-C | PLCG1 | c.2438T>C | p.Ile813Thr | Missense | 21/32 | - |
19-11224265-A-G | LDLR | c.1413A>G | p.Arg471Arg | Synonymous | 10/18 | - |
19-11072610-G-C | SMARCA4 | c.-32+760G>C | - | intron_variant | - | 1/34 |
19-11147615-G-A | SMARCA4 | c.4170+1807G>A | - | IntronicSNV | - | 29/34 |
20-39970307-T-C | LPIN3 | c.-9+665T>C | - | intron_variant | - | 1/19 |
20-39970307-T-G | LPIN3 | c.-9+665T>G | - | intron_variant | - | 1/19 |
1-63112320-C-G | DOCK7 | c.818+1042G>C | - | IntronicSNV | - | 7/48 |
1-55505668-C-G | PCSK9 | c.158C>G | p.Ala53Gly | Missense | 1/12 | - |
1-63034363-A-C | DOCK7 | c.2113-6989T>G | - | IntronicSNV | - | 18/48 |
5-74876613-T-C | POLK | c.695-421T>C | - | IntronicSNV | - | 6/14 |
1-55048942-G-C | ACOT11 | c.34-1386G>C | - | IntronicSNV | - | 1/16 |
11-61547237-C-T | MYRF | c.2221-77C>T | - | IntronicSNV | - | 16/25 |
5-74898752-T-C | POLK | c.*4909T>C | - | IntergenicSNV | 15/15 | - |
19-11163601-G-T | SMARCA4 | c.4425-5330G>T | - | IntronicSNV | - | 30/34 |
11-61609750-C-T | FADS2 | c.618+1553C>T | - | IntronicSNV | - | 4/11 |
6-116351724-G-T | FRK | c.345-26563C>A | - | IntronicSNV | - | 1/7 |
11-61629122-G-A | FADS2 | c.883-1322G>A | - | IntronicSNV | - | 7/11 |
20-39974316-A-G | LPIN3 | c.1-128A>G | - | IntronicSNV | - | 1/19 |
19-45150614-G-A | PVR | c.199G>A | p.Ala67Thr | Missense | 2/8 | - |
10-113939584-G-A | GPAM | c.225+647C>T | - | IntronicSNV | - | 4/21 |
5-156470401-C-T | HAVCR1 | c.782-708G>A | - | IntronicSNV | - | 4/7 |
16-72043039-C-T | DHODH | c.21+355C>T | - | IntronicSNV | - | 1/8 |
1-55048098-C-G | ACOT11 | c.34-2230C>G | - | IntronicSNV | - | 1/16 |
1-109887191-T-C | SORT1 | c.963+1182A>G | - | IntronicSNV | - | 8/19 |
2-21226560-A-G | APOB | c.12088-354T>C | - | IntronicSNV | - | 28/28 |
9-136149722-A-C | ABO | c.28+856T>G | - | IntronicSNV | - | 1/7 |
9-136149722-A-G | ABO | c.28+856T>C | - | IntronicSNV | - | 1/7 |
6-116354591-C-T | FRK | c.344+26540G>A | - | IntronicSNV | - | 1/7 |
19-49206108-C-G | FUT2 | c.1-106C>G | - | IntronicSNV | - | 1/1 |
11-126246076-T-C | ST3GAL4 | c.-61+19879T>C | - | intron_variant | - | 1/10 |
11-126246076-T-A | ST3GAL4 | c.-61+19879T>A | - | intron_variant | - | 1/10 |
12-121432302-T-A | HNF1A | c.955+94T>A | - | IntronicSNV | - | 4/9 |
12-121432302-T-G | HNF1A | c.955+94T>G | - | IntronicSNV | - | 4/9 |
1-63112389-A-G | DOCK7 | c.818+973T>C | - | IntronicSNV | - | 7/48 |
12-121416650-A-C | HNF1A | c.79A>C | p.Ile27Leu | Missense | 1/10 | - |
5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
1-110049127-G-T | AMIGO1 | c.*926C>A | - | IntergenicSNV | 2/2 | - |
1-110049127-G-C | AMIGO1 | c.*926C>G | - | IntergenicSNV | 2/2 | - |
17-45385640-T-C | ITGB3 | c.2301+637T>C | - | IntronicSNV | - | 14/14 |
20-39916401-A-T | ZHX3 | c.-245+12205T>A | - | intron_variant | - | 1/3 |
6-116337503-G-A | FRK | c.345-12342C>T | - | IntronicSNV | - | 1/7 |
5-74984818-A-T | POC5 | c.1054+19T>A | - | IntronicSNV | - | 8/10 |
1-55048942-G-T | ACOT11 | c.34-1386G>T | - | IntronicSNV | - | 1/16 |
5-156473185-A-T | HAVCR1 | c.781+2864T>A | - | IntronicSNV | - | 4/7 |
16-57006378-A-G | CETP | c.750+383A>G | - | IntronicSNV | - | 8/15 |
5-156473185-A-G | HAVCR1 | c.781+2864T>C | - | IntronicSNV | - | 4/7 |
5-74736065-A-C | COL4A3BP | c.349-13762T>G | - | IntronicSNV | - | 3/17 |
5-74384115-A-G | ANKRD31 | c.5301+2971T>C | - | IntronicSNV | - | 22/24 |
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 | - |
12-112245170-A-C | ALDH2 | c.1522-2177A>C | - | IntronicSNV | - | 12/12 |
2-21241744-C-T | APOB | c.3121+120G>A | - | IntronicSNV | - | 20/28 |
1-63049819-G-A | DOCK7 | c.1801-894C>T | - | IntronicSNV | - | 15/48 |
12-111910219-A-G | ATXN2 | c.2519-1673T>C | - | intron_variant | - | 18/24 |
5-74692776-A-T | COL4A3BP | c.1188+2359T>A | - | IntronicSNV | - | 11/17 |
19-11256285-A-G | SPC24 | c.*1574T>C | - | IntergenicSNV | 5/5 | - |
5-74917862-A-G | ANKDD1B | c.396+1624A>G | - | IntronicSNV | - | 3/13 |
1-55050632-C-T | ACOT11 | c.241+97C>T | - | IntronicSNV | - | 2/16 |
6-160578860-T-C | SLC22A1 | c.1599-688T>C | - | IntronicSNV | - | 10/10 |
12-121423956-C-T | HNF1A | c.327-2680C>T | - | IntronicSNV | - | 1/9 |
19-10927100-G-A | DNM2 | c.1660-3556G>A | - | IntronicSNV | - | 14/19 |
2-21263639-T-G | APOB | c.383+171A>C | - | IntronicSNV | - | 4/28 |
1-55059295-C-A | ACOT11 | c.373-319C>A | - | IntronicSNV | - | 4/16 |
1-55046039-G-C | ACOT11 | c.34-4289G>C | - | IntronicSNV | - | 1/16 |
1-220976257-A-C | MARC1 | c.754-2137A>C | - | IntronicSNV | - | 4/6 |
1-55662680-C-T | USP24 | c.324+17783G>A | - | IntronicSNV | - | 1/67 |
6-161007538-G-C | LPA | c.4072C>G | p.Leu1358Val | Missense | 25/39 | - |
5-74499631-A-G | ANKRD31 | c.403+2605T>C | - | IntronicSNV | - | 5/24 |
1-55656075-G-T | USP24 | c.325-12270C>A | - | IntronicSNV | - | 1/67 |
11-61571382-G-A | FADS1 | c.1054-143C>T | - | IntronicSNV | - | 7/11 |
5-74962242-A-G | ANKDD1B | c.1192-375A>G | - | IntronicSNV | - | 11/13 |
1-109705022-A-G | KIAA1324 | c.274+386A>G | - | IntronicSNV | - | 2/21 |
1-63061906-C-T | DOCK7 | c.1683-9611G>A | - | IntronicSNV | - | 14/48 |
19-10927100-G-C | DNM2 | c.1660-3556G>C | - | IntronicSNV | - | 14/19 |
19-10909953-C-T | DNM2 | c.1422+705C>T | - | IntronicSNV | - | 11/19 |
6-161017120-G-A | LPA | c.3288-553C>T | - | IntronicSNV | - | 20/38 |
11-61597212-C-T | FADS2 | c.207+1143C>T | - | IntronicSNV | - | 1/11 |
5-74372141-T-C | ANKRD31 | c.5476+4252A>G | - | IntronicSNV | - | 24/24 |
6-160564476-C-G | SLC22A1 | c.1277-97C>G | - | IntronicSNV | - | 7/10 |
1-55045983-G-A | ACOT11 | c.34-4345G>A | - | IntronicSNV | - | 1/16 |
1-55045983-G-C | ACOT11 | c.34-4345G>C | - | IntronicSNV | - | 1/16 |
19-10916684-C-G | DNM2 | c.1545+41C>G | - | IntronicSNV | - | 13/19 |
19-11206530-T-A | LDLR | c.68-4369T>A | - | IntronicSNV | - | 1/17 |
11-116647607-C-T | ZPR1 | c.*2034G>A | - | IntergenicSNV | 14/14 | - |
16-72018417-T-C | PKD1L3 | c.835-351A>G | - | IntronicSNV | - | 5/30 |
20-39782899-A-G | PLCG1 | c.218-5347A>G | - | IntronicSNV | - | 1/31 |
1-55042648-C-T | ACOT11 | c.34-7680C>T | - | IntronicSNV | - | 1/16 |
6-160574535-C-A | SLC22A1 | c.1386-1295C>A | - | IntronicSNV | - | 8/10 |
6-161007538-G-T | LPA | c.4072C>A | p.Leu1358Ile | Missense | 25/39 | - |
19-11159525-G-T | SMARCA4 | c.4424+7289G>T | - | IntronicSNV | - | 30/34 |
11-61605613-C-T | FADS2 | c.318+253C>T | - | IntronicSNV | - | 2/11 |
8-145047187-A-G | PLEC | c.193+2158T>C | - | IntronicSNV | - | 2/32 |
20-39769975-T-C | PLCG1 | c.217+3477T>C | - | IntronicSNV | - | 1/31 |
1-55045039-G-A | ACOT11 | c.34-5289G>A | - | IntronicSNV | - | 1/16 |
1-63113719-T-C | DOCK7 | c.732+58A>G | - | IntronicSNV | - | 6/48 |
12-121442670-T-C | C12orf43 | c.452+136A>G | - | IntronicSNV | - | 5/5 |
5-74867581-T-G | POLK | c.409-1982T>G | - | IntronicSNV | - | 4/14 |
13-32963707-C-T | BRCA2 | c.9257-5119C>T | - | IntronicSNV | - | 24/26 |
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 | - |
12-121442670-T-A | C12orf43 | c.452+136A>T | - | IntronicSNV | - | 5/5 |
5-75003678-T-C | POC5 | c.32A>G | p.His11Arg | Missense | 2/11 | - |
1-55060362-G-A | ACOT11 | c.605G>A | p.Gly202Asp | Missense | 6/17 | - |
11-116621963-T-G | BUD13 | c.1767-2672A>C | - | IntronicSNV | - | 9/9 |
5-75003678-T-A | POC5 | c.32A>T | p.His11Leu | Missense | 2/11 | - |
6-161012749-C-T | LPA | c.3630-616G>A | - | IntronicSNV | - | 22/38 |
11-116722041-G-C | SIK3 | c.3512-2042C>G | - | intron_variant | - | 20/23 |
1-55051899-A-C | ACOT11 | c.311+322A>C | - | IntronicSNV | - | 3/16 |
1-109794252-T-C | CELSR2 | c.1551T>C | p.Ser517Ser | Synonymous | 1/34 | - |
11-116722041-G-T | SIK3 | c.3512-2042C>A | - | intron_variant | - | 20/23 |
10-113937941-G-T | GPAM | c.226-126C>A | - | IntronicSNV | - | 4/21 |
10-113937941-G-C | GPAM | c.226-126C>G | - | IntronicSNV | - | 4/21 |
10-113937941-G-A | GPAM | c.226-126C>T | - | IntronicSNV | - | 4/21 |
11-61611694-G-T | FADS2 | c.618+3497G>T | - | IntronicSNV | - | 4/11 |
8-145000056-T-C | PLEC | c.4126-4A>G | - | IntronicSNV | - | 31/32 |
5-156376703-A-T | TIMD4 | c.719T>A | p.Val240Asp | Missense | 4/9 | - |
19-11263650-G-A | SPC24 | c.160+2643C>T | - | IntronicSNV | - | 1/4 |
20-39746403-A-G | TOP1 | c.1823-406A>G | - | IntronicSNV | - | 17/20 |
11-116658031-T-G | ZPR1 | c.333+167A>C | - | IntronicSNV | - | 2/13 |
19-11263650-G-T | SPC24 | c.160+2643C>A | - | IntronicSNV | - | 1/4 |
19-45373565-G-A | NECTIN2 | c.479-1545G>A | - | IntronicSNV | - | 2/5 |
1-109871787-T-C | SORT1 | c.1372-1564A>G | - | IntronicSNV | - | 11/19 |
5-74988369-A-T | POC5 | c.616-44T>A | - | IntronicSNV | - | 5/10 |
5-75008193-T-C | POC5 | c.9+8A>G | - | IntronicSNV | - | 1/10 |
5-74988369-A-G | POC5 | c.616-44T>C | - | IntronicSNV | - | 5/10 |
19-45372354-T-G | NECTIN2 | c.479-2756T>G | - | IntronicSNV | - | 2/5 |
1-55046039-G-T | ACOT11 | c.34-4289G>T | - | IntronicSNV | - | 1/16 |
16-57004889-G-A | CETP | c.528-56G>A | - | IntronicSNV | - | 5/15 |
5-74924890-A-G | ANKDD1B | c.600+3110A>G | - | IntronicSNV | - | 5/13 |
5-74692776-A-G | COL4A3BP | c.1188+2359T>C | - | IntronicSNV | - | 11/17 |
11-126248211-A-T | ST3GAL4 | c.-61+22014A>T | - | intron_variant | - | 1/10 |
8-145058986-A-G | PARP10 | c.1184T>C | p.Leu395Pro | Missense | 5/11 | - |
9-136143442-A-G | ABO | c.29-5871T>C | - | IntronicSNV | - | 1/7 |
5-75003056-A-G | POC5 | c.148+506T>C | - | IntronicSNV | - | 2/10 |
2-44022970-T-C | DYNC2LI1 | c.508-59T>C | - | IntronicSNV | - | 6/12 |
5-74956517-C-T | ANKDD1B | c.1095+1311C>T | - | IntronicSNV | - | 10/13 |
19-11161537-C-A | SMARCA4 | c.4425-7394C>A | - | IntronicSNV | - | 30/34 |
20-39913632-C-T | ZHX3 | c.-245+14974G>A | - | intron_variant | - | 1/3 |
5-74696638-C-G | COL4A3BP | c.1018-516G>C | - | IntronicSNV | - | 9/17 |
1-109817838-T-C | CELSR2 | c.*1167T>C | - | 3-UTRSNV | 34/34 | - |
2-21240364-A-G | APOB | c.3122-843T>C | - | IntronicSNV | - | 20/28 |
12-121446446-T-G | C12orf43 | c.287+2185A>C | - | IntronicSNV | - | 3/5 |
19-19505087-C-T | GATAD2A | c.-7+8140C>T | - | intron_variant | - | 1/11 |
1-55505647-G-A | PCSK9 | c.137G>A | p.Arg46His | Missense | 1/12 | - |
19-11233941-A-G | LDLR | c.2232A>G | p.Arg744Arg | Synonymous | 15/18 | - |
12-111993886-A-G | ATXN2 | c.252-163T>C | - | intron_variant | - | 1/24 |
16-56999328-C-T | CETP | c.233+2292C>T | - | IntronicSNV | - | 2/15 |
16-72044238-G-C | DHODH | c.21+1554G>C | - | IntronicSNV | - | 1/8 |
1-55057958-G-A | ACOT11 | c.312-261G>A | - | IntronicSNV | - | 3/16 |
20-39664665-T-C | TOP1 | c.58+6570T>C | - | IntronicSNV | - | 2/20 |
11-116652301-C-T | ZPR1 | c.1179+573G>A | - | IntronicSNV | - | 12/13 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
19-10916684-C-T | DNM2 | c.1545+41C>T | - | IntronicSNV | - | 13/19 |
19-11206530-T-C | LDLR | c.68-4369T>C | - | IntronicSNV | - | 1/17 |
16-71997789-A-C | PKD1L3 | c.2466-539T>G | - | IntronicSNV | - | 15/30 |
5-74929647-G-A | ANKDD1B | c.601-1076G>A | - | IntronicSNV | - | 5/13 |
16-71997789-A-T | PKD1L3 | c.2466-539T>A | - | IntronicSNV | - | 15/30 |
19-45676294-G-A | TRAPPC6A | c.126+5057C>T | - | IntronicSNV | - | 1/5 |
19-19721722-G-A | PBX4 | c.119+7598C>T | - | IntronicSNV | - | 1/7 |
5-74697050-T-G | COL4A3BP | c.1018-928A>C | - | IntronicSNV | - | 9/17 |
16-72028930-T-G | PKD1L3 | c.419-1699A>C | - | IntronicSNV | - | 2/30 |
5-156460095-T-C | HAVCR1 | c.953-197A>G | - | IntronicSNV | - | 6/7 |
11-61603237-C-T | FADS2 | c.208-2013C>T | - | IntronicSNV | - | 1/11 |
1-63112320-C-A | DOCK7 | c.818+1042G>T | - | IntronicSNV | - | 7/48 |
9-136149229-T-C | ABO | c.28+1349A>G | - | IntronicSNV | - | 1/7 |
19-44934842-G-C | ZNF229 | c.239-125C>G | - | IntronicSNV | - | 5/5 |
11-126228659-T-G | ST3GAL4 | c.-61+2462T>G | - | intron_variant | - | 1/10 |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
12-121446446-T-A | C12orf43 | c.287+2185A>T | - | IntronicSNV | - | 3/5 |
1-63083289-C-A | DOCK7 | c.1682+1088G>T | - | IntronicSNV | - | 14/48 |
5-156380067-T-G | TIMD4 | c.401-1266A>C | - | IntronicSNV | - | 2/8 |
2-44096336-T-A | ABCG8 | c.965-2779T>A | - | IntronicSNV | - | 6/12 |
11-61604814-C-A | FADS2 | c.208-436C>A | - | IntronicSNV | - | 1/11 |
19-11216561-A-C | LDLR | c.694+285A>C | - | IntronicSNV | - | 4/17 |
19-11216561-A-T | LDLR | c.694+285A>T | - | IntronicSNV | - | 4/17 |
2-20985414-T-C | LDAH | c.298+4601A>G | - | IntronicSNV | - | 3/6 |
5-156469783-G-A | HAVCR1 | c.782-90C>T | - | IntronicSNV | - | 4/7 |
1-55045930-C-A | ACOT11 | c.34-4398C>A | - | IntronicSNV | - | 1/16 |
1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
19-45401666-A-G | TOMM40 | c.644-2321A>G | - | IntronicSNV | - | 6/9 |
19-49206417-A-G | FUT2 | c.204A>G | p.Ala68Ala | Synonymous | 2/2 | - |
19-10903972-G-A | DNM2 | c.993-424G>A | - | IntronicSNV | - | 7/19 |
1-109703023-C-A | KIAA1324 | c.154-1493C>A | - | IntronicSNV | - | 1/21 |
1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
19-11072610-G-T | SMARCA4 | c.-32+760G>T | - | intron_variant | - | 1/34 |
19-11072610-G-A | SMARCA4 | c.-32+760G>A | - | intron_variant | - | 1/34 |
19-11241915-A-G | LDLR | c.2548-42A>G | - | IntronicSNV | - | 17/17 |
19-45447178-C-T | APOC4 | c.77-828C>T | - | IntronicSNV | - | 1/2 |
20-39916160-T-C | ZHX3 | c.-245+12446A>G | - | intron_variant | - | 1/3 |
7-44709372-T-C | OGDH | c.633+2922T>C | - | IntronicSNV | - | 5/8 |
2-21259562-T-C | APOB | c.693+410A>G | - | IntronicSNV | - | 6/28 |
8-144991176-T-C | PLEC | c.12894A>G | p.Ser4298Ser | Synonymous | 33/33 | - |
20-39885529-T-C | ZHX3 | c.-151+12101A>G | - | intron_variant | - | 2/3 |
1-55638546-T-C | USP24 | c.559-353A>G | - | IntronicSNV | - | 3/67 |
2-21231592-G-A | APOB | c.8148C>T | p.Ile2716Ile | Synonymous | 26/29 | - |
6-161017120-G-T | LPA | c.3288-553C>A | - | IntronicSNV | - | 20/38 |
16-71996291-T-G | PKD1L3 | c.2612+813A>C | - | IntronicSNV | - | 16/30 |
16-71996291-T-A | PKD1L3 | c.2612+813A>T | - | IntronicSNV | - | 16/30 |
2-21250914-G-A | APOB | c.1853C>T | p.Ala618Val | Missense | 14/29 | - |
1-55046392-G-A | ACOT11 | c.34-3936G>A | - | IntronicSNV | - | 1/16 |
2-118583100-G-A | DDX18 | c.1446G>A | p.Thr482Thr | Synonymous | 10/14 | - |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
11-61623140-C-T | FADS2 | c.745-1343C>T | - | IntronicSNV | - | 5/11 |
12-121416650-A-T | HNF1A | c.79A>T | p.Ile27Phe | Missense | 1/10 | - |
20-39769975-T-A | PLCG1 | c.217+3477T>A | - | IntronicSNV | - | 1/31 |
11-61623140-C-A | FADS2 | c.745-1343C>A | - | IntronicSNV | - | 5/11 |
11-126218541-A-G | DCPS | c.*3033A>G | - | IntergenicSNV | 6/6 | - |
8-145000602-T-C | PLEC | c.4125+350A>G | - | IntronicSNV | - | 31/32 |
5-156376703-A-G | TIMD4 | c.719T>C | p.Val240Ala | Missense | 4/9 | - |
8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
11-61580635-C-T | FADS1 | c.486+80G>A | - | IntronicSNV | - | 2/11 |
1-55047724-G-C | ACOT11 | c.34-2604G>C | - | IntronicSNV | - | 1/16 |
16-72000195-C-G | PKD1L3 | c.2465+841G>C | - | IntronicSNV | - | 15/30 |
19-11275139-A-C | KANK2 | c.*2095T>G | - | 3-UTRSNV | 11/11 | - |
2-44074000-G-A | ABCG8 | c.322+550G>A | - | IntronicSNV | - | 3/12 |
19-10904689-G-C | DNM2 | c.1128+158G>C | - | IntronicSNV | - | 8/19 |
1-55518374-C-T | PCSK9 | c.709C>T | p.Arg237Trp | Missense | 5/12 | - |
2-44096336-T-C | ABCG8 | c.965-2779T>C | - | IntronicSNV | - | 6/12 |
1-55048190-G-A | ACOT11 | c.34-2138G>A | - | IntronicSNV | - | 1/16 |
19-45371168-G-A | NECTIN2 | c.478+2251G>A | - | IntronicSNV | - | 2/5 |
11-61621040-G-T | FADS2 | c.745-3443G>T | - | IntronicSNV | - | 5/11 |
11-61621040-G-C | FADS2 | c.745-3443G>C | - | IntronicSNV | - | 5/11 |
11-61621040-G-A | FADS2 | c.745-3443G>A | - | IntronicSNV | - | 5/11 |
2-21261507-T-C | APOB | c.384-524A>G | - | IntronicSNV | - | 4/28 |
2-21261507-T-A | APOB | c.384-524A>T | - | IntronicSNV | - | 4/28 |
17-45406345-T-G | EFCAB13 | c.30+596T>G | - | IntronicSNV | - | 4/24 |
17-45406345-T-C | EFCAB13 | c.30+596T>C | - | IntronicSNV | - | 4/24 |
19-11229218-A-G | LDLR | c.1845+1544A>G | - | IntronicSNV | - | 12/17 |
1-55525726-T-G | PCSK9 | c.1681+390T>G | - | IntronicSNV | - | 10/11 |
1-55525726-T-A | PCSK9 | c.1681+390T>A | - | IntronicSNV | - | 10/11 |
5-74989037-T-C | POC5 | c.616-712A>G | - | IntronicSNV | - | 5/10 |
1-109727284-C-G | KIAA1324 | c.953-383C>G | - | IntronicSNV | - | 7/21 |
5-74982207-T-C | POC5 | c.1055-898A>G | - | IntronicSNV | - | 8/10 |
5-74890618-A-G | POLK | c.1528+744A>G | - | IntronicSNV | - | 12/14 |
19-11114352-A-G | SMARCA4 | c.2001+279A>G | - | IntronicSNV | - | 13/34 |
1-55046535-C-G | ACOT11 | c.34-3793C>G | - | IntronicSNV | - | 1/16 |
8-59332694-G-A | UBXN2B | c.188+3182G>A | - | IntronicSNV | - | 2/7 |
8-59332694-G-T | UBXN2B | c.188+3182G>T | - | IntronicSNV | - | 2/7 |
19-45676294-G-C | TRAPPC6A | c.126+5057C>G | - | IntronicSNV | - | 1/5 |
1-55046535-C-T | ACOT11 | c.34-3793C>T | - | IntronicSNV | - | 1/16 |