Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
8-126449406-C-T | TRIB1 | c.*693C>T | - | 3-UTRSNV | 3/3 | - |
2-169830155-G-A | ABCB11 | c.1434+70C>T | - | IntronicSNV | - | 13/27 |
9-107595602-A-C | ABCA1 | c.1312-550T>G | - | IntronicSNV | - | 11/49 |
11-47258853-C-T | DDB2 | c.1024-535C>T | - | IntronicSNV | - | 7/9 |
2-24431127-T-G | ITSN2 | c.4657A>C | p.Lys1553Gln | Missense | 37/40 | - |
11-48018355-A-C | PTPRJ | c.96+15795A>C | - | IntronicSNV | - | 1/8 |
11-48018355-A-G | PTPRJ | c.96+15795A>G | - | IntronicSNV | - | 1/8 |
1-55551718-G-A | USP24 | c.6669-7C>T | - | IntronicSNV | - | 55/67 |
20-39724338-T-C | TOP1 | c.731-1522T>C | - | IntronicSNV | - | 9/20 |
3-136272246-T-A | STAG1 | c.395-11209A>T | - | IntronicSNV | - | 5/33 |
1-55509213-G-C | PCSK9 | c.208-303G>C | - | IntronicSNV | - | 1/11 |
9-107562804-T-C | ABCA1 | c.4760A>G | p.Lys1587Arg | Missense | 35/50 | - |
11-116915819-C-T | SIK3 | c.273+53040G>A | - | intron_variant | - | 1/23 |
1-109381904-A-G | AKNAD1 | c.1380-1576T>C | - | IntronicSNV | - | 6/15 |
7-72915521-G-C | BAZ1B | c.370-2493C>G | - | IntronicSNV | - | 3/19 |
11-47298360-G-A | MADD | c.1041G>A | p.Glu347Glu | Synonymous | 5/33 | - |
6-31526080-G-A | NFKBIL1 | c.838G>A | p.Gly280Arg | Missense | 4/4 | - |
11-116660813-G-A | APOA5 | c.*31C>T | - | 3-UTRSNV | 4/4 | - |
2-44074431-C-T | ABCG8 | c.322+981C>T | - | IntronicSNV | - | 3/12 |
16-56949168-A-G | SLC12A3 | c.*1851A>G | - | 3-UTRSNV | 26/26 | - |
16-57005762-C-T | CETP | c.659-142C>T | - | IntronicSNV | - | 7/15 |
3-152171870-C-G | MBNL1 | c.962-1461C>G | - | IntronicSNV | - | 6/9 |
3-132165178-A-T | DNAJC13 | c.69-141A>T | - | IntronicSNV | - | 2/55 |
6-31938412-G-C | DXO | c.783C>G | p.His261Gln | Missense | 4/7 | - |
6-31938412-G-A | DXO | c.783C>T | p.His261His | Synonymous | 4/7 | - |
6-31938412-G-T | DXO | c.783C>A | p.His261Gln | Missense | 4/7 | - |
8-19813180-G-A | LPL | c.776-172G>A | - | IntronicSNV | - | 5/9 |
19-45147992-G-T | PVR | c.79+517G>T | - | IntronicSNV | - | 1/7 |
15-59776836-T-C | FAM81A | c.295-7634T>C | - | IntronicSNV | - | 3/8 |
17-65870073-C-G | BPTF | c.1661-860C>G | - | IntronicSNV | - | 3/29 |
3-53125922-T-C | RFT1 | c.1623A>G | p.Thr541Thr | Synonymous | 13/13 | - |
19-45160086-C-A | PVR | c.843-944C>A | - | IntronicSNV | - | 4/7 |
6-161006077-C-A | LPA | c.4289+1G>T | - | IntronicSNV | - | 26/38 |
17-45468858-T-G | EFCAB13 | c.1638T>G | p.Tyr546* | Nonsense | 15/25 | - |
1-55505668-C-G | PCSK9 | c.158C>G | p.Ala53Gly | Missense | 1/12 | - |
7-129663496-C-T | ZC3HC1 | c.1088G>A | p.Arg363His | Missense | 8/10 | - |
6-130374102-C-T | L3MBTL3 | c.548C>T | p.Thr183Ile | Missense | 7/23 | - |
15-58782289-G-C | LIPC | c.89-48243G>C | - | IntronicSNV | - | 1/8 |
6-130374102-C-A | L3MBTL3 | c.548C>A | p.Thr183Asn | Missense | 7/23 | - |
16-71669624-C-A | MARVELD3 | c.*918C>A | - | 3-UTRSNV | 3/3 | - |
16-56995935-C-G | CETP | c.44C>G | p.Ala15Gly | Missense | 1/16 | - |
15-75289722-T-C | SCAMP5 | c.-49+1708T>C | - | intron_variant | - | 1/6 |
19-11163601-G-T | SMARCA4 | c.4425-5330G>T | - | IntronicSNV | - | 30/34 |
19-45396973-G-A | TOMM40 | c.436-64G>A | - | IntronicSNV | - | 4/9 |
6-160961137-T-C | LPA | c.5673A>G | p.Ile1891Met | Missense | 36/39 | - |
19-45396665-G-A | TOMM40 | c.436-372G>A | - | IntronicSNV | - | 4/9 |
11-823586-C-T | PNPLA2 | c.756C>T | p.Asn252Asn | Synonymous | 6/10 | - |
11-823586-C-G | PNPLA2 | c.756C>G | p.Asn252Lys | Missense | 6/10 | - |
20-44538484-G-T | PLTP | c.329+97C>A | - | IntronicSNV | - | 4/15 |
7-2296552-A-G | SNX8 | c.1241T>C | p.Ile414Thr | Missense | 10/11 | - |
7-2296552-A-C | SNX8 | c.1241T>G | p.Ile414Ser | Missense | 10/11 | - |
19-11275842-G-C | KANK2 | c.*1392C>G | - | 3-UTRSNV | 11/11 | - |
9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
15-58471979-G-C | AQP9 | c.713+435G>C | - | IntronicSNV | - | 5/5 |
15-58471979-G-T | AQP9 | c.713+435G>T | - | IntronicSNV | - | 5/5 |
2-44074000-G-A | ABCG8 | c.322+550G>A | - | IntronicSNV | - | 3/12 |
11-68562328-C-T | CPT1A | c.823G>A | p.Ala275Thr | Missense | 8/19 | - |
11-68562328-C-G | CPT1A | c.823G>C | p.Ala275Pro | Missense | 8/19 | - |
17-29629326-A-G | NF1 | c.4773-23512A>G | - | IntronicSNV | - | 35/56 |
19-45396219-C-T | TOMM40 | c.435+33C>T | - | IntronicSNV | - | 4/9 |
19-10777054-A-G | ILF3 | c.1-4228A>G | - | IntronicSNV | - | 1/17 |
1-55636240-T-C | USP24 | c.825+989A>G | - | IntronicSNV | - | 5/67 |
15-59310760-A-G | RNF111 | c.1-12262A>G | - | IntronicSNV | - | 1/13 |
17-28651363-C-T | TMIGD1 | c.640+471G>A | - | IntronicSNV | - | 4/6 |
10-94090498-A-T | MARCH5 | c.239-9932A>T | - | IntronicSNV | - | 2/5 |
7-26397239-C-A | SNX10 | c.25-3356C>A | - | IntronicSNV | - | 2/6 |
19-45491032-C-T | CLPTM1 | c.1039-306C>T | - | IntronicSNV | - | 8/13 |
10-94090498-A-G | MARCH5 | c.239-9932A>G | - | IntronicSNV | - | 2/5 |
1-230309619-A-G | GALNT2 | c.127-4345A>G | - | IntronicSNV | - | 1/15 |
11-61609750-C-T | FADS2 | c.618+1553C>T | - | IntronicSNV | - | 4/11 |
15-58907990-T-C | ADAM10 | c.1512-3800A>G | - | IntronicSNV | - | 11/15 |
11-78082604-C-T | GAB2 | c.75+46088G>A | - | IntronicSNV | - | 1/9 |
19-52327784-C-T | FPR3 | c.783C>T | p.Gly261Gly | Synonymous | 2/2 | - |
22-38569006-A-G | PLA2G6 | c.1-3573T>C | - | IntronicSNV | - | 1/15 |
11-116631482-G-A | BUD13 | c.1223C>T | p.Pro408Leu | Missense | 5/10 | - |
16-72144174-T-C | DHX38 | c.3478-681T>C | - | IntronicSNV | - | 25/26 |
3-32533010-C-T | CMTM6 | c.315+192G>A | - | IntronicSNV | - | 2/3 |
1-205631767-A-G | SLC45A3 | c.958+194T>C | - | IntronicSNV | - | 3/4 |
5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
12-121416650-A-C | HNF1A | c.79A>C | p.Ile27Leu | Missense | 1/10 | - |
14-94844947-C-G | SERPINA1 | c.1096G>C | p.Glu366Gln | Missense | 5/5 | - |
15-58785756-A-G | LIPC | c.89-44776A>G | - | IntronicSNV | - | 1/8 |
15-58785756-A-T | LIPC | c.89-44776A>T | - | IntronicSNV | - | 1/8 |
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 |
6-116325142-C-T | FRK | c.364G>A | p.Gly122Arg | Missense | 2/8 | - |
15-58779039-T-C | LIPC | c.89-51493T>C | - | IntronicSNV | - | 1/8 |
10-94764660-T-G | EXOC6 | c.2095+7288T>G | - | IntronicSNV | - | 19/21 |
8-22471824-G-T | CCAR2 | c.924G>T | p.Ser308Ser | Synonymous | 9/21 | - |
1-55528629-G-A | PCSK9 | c.1864-413G>A | - | IntronicSNV | - | 11/11 |
16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
8-22471824-G-C | CCAR2 | c.924G>C | p.Ser308Ser | Synonymous | 9/21 | - |
4-73406173-A-G | ADAMTS3 | c.504+8022T>C | - | IntronicSNV | - | 3/21 |
2-44074431-C-A | ABCG8 | c.322+981C>A | - | IntronicSNV | - | 3/12 |
2-44080310-C-T | ABCG8 | c.964+303C>T | - | IntronicSNV | - | 6/12 |
7-6449496-T-C | DAGLB | c.1991A>G | p.Gln664Arg | Missense | 15/15 | - |
19-45284266-A-C | CBLC | c.458A>C | p.Lys153Thr | Missense | 2/11 | - |
15-58744481-C-T | LIPC | c.88+20162C>T | - | IntronicSNV | - | 1/8 |
6-161019138-T-C | LPA | c.3287+1394A>G | - | IntronicSNV | - | 20/38 |
1-57012269-A-G | PLPP3 | c.140-9485T>C | - | IntronicSNV | - | 1/5 |
7-72971728-C-T | BCL7B | c.92+89G>A | - | IntronicSNV | - | 1/5 |
2-44087024-C-G | ABCG8 | c.964+7017C>G | - | IntronicSNV | - | 6/12 |
2-44087024-C-A | ABCG8 | c.964+7017C>A | - | IntronicSNV | - | 6/12 |
1-55522674-C-T | PCSK9 | c.997-330C>T | - | IntronicSNV | - | 6/11 |
16-57005550-C-T | CETP | c.658+257C>T | - | IntronicSNV | - | 7/15 |
16-56900931-C-T | SLC12A3 | c.283-51C>T | - | IntronicSNV | - | 1/25 |
16-57007451-G-A | CETP | c.930+29G>A | - | IntronicSNV | - | 9/15 |
19-10771544-C-T | ILF3 | c.-91+6381C>T | - | intron_variant | - | 1/17 |
6-160569068-C-T | SLC22A1 | c.1385+4387C>T | - | IntronicSNV | - | 8/10 |
4-103184239-G-A | SLC39A8 | c.1345C>T | p.Leu449Phe | Missense | 8/8 | - |
7-72971728-C-A | BCL7B | c.92+89G>T | - | IntronicSNV | - | 1/5 |
7-87076587-C-T | ABCB4 | c.834-66G>A | - | IntronicSNV | - | 8/27 |
15-58731395-C-T | LIPC | c.88+7076C>T | - | IntronicSNV | - | 1/8 |
1-55524601-G-C | PCSK9 | c.1503+281G>C | - | IntronicSNV | - | 9/11 |
15-59326120-T-A | RNF111 | c.880+2219T>A | - | IntronicSNV | - | 2/13 |
19-11207102-T-C | LDLR | c.68-3797T>C | - | IntronicSNV | - | 1/17 |
7-72971231-C-T | BCL7B | c.92+586G>A | - | IntronicSNV | - | 1/5 |
5-53297611-G-A | ARL15 | c.462+111421C>T | - | IntronicSNV | - | 4/4 |
16-69876164-A-T | WWP2 | c.575+141A>T | - | IntronicSNV | - | 7/24 |
16-69876164-A-G | WWP2 | c.575+141A>G | - | IntronicSNV | - | 7/24 |
19-11163689-A-G | SMARCA4 | c.4425-5242A>G | - | IntronicSNV | - | 30/34 |
19-45322744-A-G | BCAM | c.1615A>G | p.Thr539Ala | Missense | 12/15 | - |
9-107665978-C-A | ABCA1 | c.1-18G>T | - | 5-UTRSNV | 2/50 | - |
19-8436373-C-T | ANGPTL4 | c.1006C>T | p.Arg336Cys | Missense | 6/7 | - |
3-52532118-A-T | STAB1 | c.78+2611A>T | - | IntronicSNV | - | 1/68 |
2-234668570-C-T | UGT1A4 | c.868-7110C>T | - | IntronicSNV | - | 1/4 |
19-11002852-A-T | CARM1 | c.221-12775A>T | - | IntronicSNV | - | 1/15 |
20-39690342-T-C | TOP1 | c.155+212T>C | - | IntronicSNV | - | 3/20 |
20-39690342-T-G | TOP1 | c.155+212T>G | - | IntronicSNV | - | 3/20 |
2-27702663-G-A | IFT172 | c.910-192C>T | - | IntronicSNV | - | 9/47 |
19-7125518-C-T | INSR | c.3034G>A | p.Val1012Met | Missense | 17/22 | - |
13-114527838-G-A | GAS6 | c.1478-1315C>T | - | IntronicSNV | - | 12/14 |
9-136132875-T-G | ABO | c.294A>C | p.Ala98Ala | Synonymous | 7/8 | - |
7-44578500-G-T | NPC1L1 | c.1496C>A | p.Thr499Lys | Missense | 2/20 | - |
19-11002852-A-G | CARM1 | c.221-12775A>G | - | IntronicSNV | - | 1/15 |
19-44887996-G-T | ZNF285 | c.*2638C>A | - | IntergenicSNV | 4/4 | - |
3-50093209-G-A | RBM6 | c.1693+1381G>A | - | IntronicSNV | - | 8/20 |
15-44238869-C-G | FRMD5 | c.103-22362G>C | - | IntronicSNV | - | 1/13 |
13-114527838-G-T | GAS6 | c.1478-1315C>A | - | IntronicSNV | - | 12/14 |
16-56937262-C-T | SLC12A3 | c.2883+842C>T | - | IntronicSNV | - | 24/25 |
10-114048792-T-C | TECTB | c.483+2643T>C | - | IntronicSNV | - | 5/10 |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
21-46875775-G-A | COL18A1 | c.331G>A | p.Gly111Arg | Missense | 1/41 | - |
12-20591332-G-A | PDE3A | c.960+68154G>A | - | IntronicSNV | - | 1/15 |
7-44570717-C-A | NPC1L1 | c.2637+637G>T | - | IntronicSNV | - | 10/19 |
19-44888175-A-G | ZNF285 | c.*2459T>C | - | IntergenicSNV | 4/4 | - |
20-44534651-G-A | PLTP | c.705+256C>T | - | IntronicSNV | - | 8/15 |
3-47061183-G-A | SETD2 | c.7431+67C>T | - | IntronicSNV | - | 19/20 |
3-47061183-G-C | SETD2 | c.7431+67C>G | - | IntronicSNV | - | 19/20 |
1-55509872-T-C | PCSK9 | c.399+165T>C | - | IntronicSNV | - | 2/11 |
4-73238544-G-A | ADAMTS3 | c.662-33134C>T | - | IntronicSNV | - | 4/21 |
9-136132875-T-A | ABO | c.294A>T | p.Ala98Ala | Synonymous | 7/8 | - |
9-136132875-T-C | ABO | c.294A>G | p.Ala98Ala | Synonymous | 7/8 | - |
8-19824492-T-A | LPL | c.*1671T>A | - | 3-UTRSNV | 10/10 | - |
19-10915324-A-T | DNM2 | c.1494-1268A>T | - | IntronicSNV | - | 12/19 |
15-58457569-T-A | AQP9 | c.112-1303T>A | - | IntronicSNV | - | 1/5 |
20-17596155-C-G | RRBP1 | c.2672G>C | p.Arg891Pro | Missense | 24/26 | - |
12-125265689-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
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 | - |
15-90214777-A-G | PLIN1 | c.269T>C | p.Leu90Pro | Missense | 4/9 | - |
4-858332-C-T | GAK | c.3166+578G>A | - | IntronicSNV | - | 23/27 |
11-13357183-G-A | ARNTL | c.-135+9169G>A | - | intron_variant | - | 3/19 |
16-56827946-G-A | NUP93 | c.298-4442G>A | - | IntronicSNV | - | 3/21 |
19-10915324-A-G | DNM2 | c.1494-1268A>G | - | IntronicSNV | - | 12/19 |
21-40574305-A-G | BRWD1 | c.4531T>C | p.Ser1511Pro | Missense | 38/41 | - |
11-61612830-C-T | FADS2 | c.619-2801C>T | - | IntronicSNV | - | 4/11 |
10-5260682-C-T | AKR1C4 | c.931C>T | p.Leu311Phe | Missense | 9/9 | - |
16-57074451-T-C | NLRC5 | c.2871-111T>C | - | IntronicSNV | - | 15/47 |
1-230416744-G-C | GALNT2 | c.*1540G>C | - | 3-UTRSNV | 16/16 | - |
1-230416744-G-A | GALNT2 | c.*1540G>A | - | 3-UTRSNV | 16/16 | - |
19-11211077-G-C | LDLR | c.190+56G>C | - | IntronicSNV | - | 2/17 |
19-11211077-G-A | LDLR | c.190+56G>A | - | IntronicSNV | - | 2/17 |
1-55524601-G-A | PCSK9 | c.1503+281G>A | - | IntronicSNV | - | 9/11 |
1-62933758-G-A | DOCK7 | c.6119+5895C>T | - | IntronicSNV | - | 47/48 |
5-118729286-C-T | TNFAIP8 | c.*210C>T | - | 3-UTRSNV | 2/2 | - |
5-170459675-G-A | RANBP17 | c.1710+64294G>A | - | IntronicSNV | - | 14/27 |
19-45302951-A-G | CBLC | c.1363-687A>G | - | IntronicSNV | - | 9/10 |
15-59458663-T-C | MYO1E | c.2481-3161A>G | - | IntronicSNV | - | 22/27 |
19-2814181-C-T | THOP1 | c.*907C>T | - | IntergenicSNV | 13/13 | - |
7-44197583-G-T | GCK | c.46-4521C>A | - | IntronicSNV | - | 1/9 |
16-56921840-G-T | SLC12A3 | c.2182G>T | p.Ala728Ser | Missense | 18/26 | - |
15-58793567-G-T | LIPC | c.89-36965G>T | - | IntronicSNV | - | 1/8 |
11-68703959-A-G | IGHMBP2 | c.2011A>G | p.Thr671Ala | Missense | 13/15 | - |
15-58793567-G-A | LIPC | c.89-36965G>A | - | IntronicSNV | - | 1/8 |
12-112310580-G-A | MAPKAPK5 | c.579+1596G>A | - | IntronicSNV | - | 7/13 |
15-57733779-A-T | CGNL1 | c.1698-792A>T | - | IntronicSNV | - | 3/18 |
19-11277232-G-A | KANK2 | c.*2C>T | - | 3-UTRSNV | 11/11 | - |
19-45372794-G-A | NECTIN2 | c.479-2316G>A | - | IntronicSNV | - | 2/5 |
11-116654435-C-T | ZPR1 | c.892-100G>A | - | IntronicSNV | - | 9/13 |
1-220972343-A-G | MARC1 | c.753+987A>G | - | IntronicSNV | - | 4/6 |
5-74639178-A-G | HMGCR | c.166-500A>G | - | IntronicSNV | - | 2/19 |
19-19597444-G-A | GATAD2A | c.270-5671G>A | - | IntronicSNV | - | 2/11 |
17-26695832-A-G | VTN | c.826+61T>C | - | IntronicSNV | - | 5/7 |
19-33909710-T-G | PEPD | c.672-5161A>C | - | IntronicSNV | - | 9/14 |
19-33909710-T-C | PEPD | c.672-5161A>G | - | IntronicSNV | - | 9/14 |
19-11277232-G-T | KANK2 | c.*2C>A | - | 3-UTRSNV | 11/11 | - |
8-22471824-G-A | CCAR2 | c.924G>A | p.Ser308Ser | Synonymous | 9/21 | - |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
15-59377940-C-T | RNF111 | c.2506C>T | p.Pro836Ser | Missense | 10/14 | - |
1-109818306-G-T | CELSR2 | c.*1635G>T | - | 3-UTRSNV | 34/34 | - |
19-10909953-C-T | DNM2 | c.1422+705C>T | - | IntronicSNV | - | 11/19 |
15-58730460-C-A | LIPC | c.88+6141C>A | - | IntronicSNV | - | 1/8 |
16-56931565-C-T | SLC12A3 | c.2661-1877C>T | - | IntronicSNV | - | 22/25 |
17-76403984-G-A | PGS1 | c.1402+3814G>A | - | IntronicSNV | - | 7/9 |
7-73016181-T-C | MLXIPL | c.902-2156A>G | - | IntronicSNV | - | 7/16 |
15-58730571-T-C | LIPC | c.88+6252T>C | - | IntronicSNV | - | 1/8 |
19-11232974-T-C | LDLR | c.2141-876T>C | - | IntronicSNV | - | 14/17 |
13-32973439-A-T | BRCA2 | c.*532A>T | - | 3-UTRSNV | 27/27 | - |
1-23766233-C-T | ASAP3 | c.945-510G>A | - | IntronicSNV | - | 10/24 |
7-6449272-A-G | DAGLB | c.*196T>C | - | 3-UTRSNV | 15/15 | - |
20-44598670-T-G | ZNF335 | c.202-340A>C | - | IntronicSNV | - | 2/27 |
7-73019074-T-C | MLXIPL | c.901+944A>G | - | IntronicSNV | - | 7/16 |
19-45448465-T-G | APOC4 | c.287T>G | p.Leu96Arg | Missense | 3/3 | - |
19-3414088-G-A | NFIC | c.563-11016G>A | - | IntronicSNV | - | 2/8 |
20-45592842-T-C | EYA2 | c.1-25808T>C | - | IntronicSNV | - | 1/15 |
17-7346302-T-C | FGF11 | c.608-93T>C | - | IntronicSNV | - | 4/4 |
1-55518752-C-T | PCSK9 | c.799+288C>T | - | IntronicSNV | - | 5/11 |
7-1083777-A-G | C7orf50 | c.130-33998T>C | - | IntronicSNV | - | 2/4 |
19-11238548-A-T | LDLR | c.2312-136A>T | - | IntronicSNV | - | 15/17 |
19-11238548-A-G | LDLR | c.2312-136A>G | - | IntronicSNV | - | 15/17 |
2-21228827-C-T | APOB | c.10913G>A | p.Arg3638Gln | Missense | 26/29 | - |
3-52532118-A-G | STAB1 | c.78+2611A>G | - | IntronicSNV | - | 1/68 |
19-45403216-C-G | TOMM40 | c.644-771C>G | - | IntronicSNV | - | 6/9 |
19-45403216-C-T | TOMM40 | c.644-771C>T | - | IntronicSNV | - | 6/9 |
19-10916684-C-G | DNM2 | c.1545+41C>G | - | IntronicSNV | - | 13/19 |
11-116707044-A-T | APOA1 | c.284T>A | p.Phe95Tyr | Missense | 4/4 | - |
6-116309649-T-C | FRK | c.466+15391A>G | - | IntronicSNV | - | 2/7 |
6-160848167-A-C | SLC22A3 | c.976-9645A>C | - | IntronicSNV | - | 5/10 |
12-72179446-C-T | RAB21 | c.671C>T | p.Ser224Phe | Missense | 7/7 | - |
1-230304988-A-C | GALNT2 | c.127-8976A>C | - | IntronicSNV | - | 1/15 |
6-160848167-A-T | SLC22A3 | c.976-9645A>T | - | IntronicSNV | - | 5/10 |
12-124404718-T-C | DNAH10 | c.11152+1222T>C | - | IntronicSNV | - | 64/77 |
1-54236244-T-G | NDC1 | c.1961+1758A>C | - | IntronicSNV | - | 17/17 |
15-44246293-C-G | FRMD5 | c.103-29786G>C | - | IntronicSNV | - | 1/13 |
19-4945250-C-T | UHRF1 | c.1306-623C>T | - | IntronicSNV | - | 9/17 |
19-11284302-C-T | KANK2 | c.2093-503G>A | - | IntronicSNV | - | 7/10 |
4-155489608-C-T | FGB | c.794C>T | p.Pro265Leu | Missense | 5/8 | - |
16-56905432-T-C | SLC12A3 | c.852+784T>C | - | IntronicSNV | - | 6/25 |
15-59310760-A-C | RNF111 | c.1-12262A>C | - | IntronicSNV | - | 1/13 |
16-57009941-T-C | CETP | c.981+878T>C | - | IntronicSNV | - | 10/15 |
6-34824636-A-T | UHRF1BP1 | c.1361A>T | p.Gln454Leu | Missense | 11/21 | - |
11-10669228-T-A | MRVI1 | c.198+4344A>T | - | IntronicSNV | - | 1/19 |
16-57005479-C-A | CETP | c.658+186C>A | - | IntronicSNV | - | 7/15 |
11-61570783-T-C | FADS1 | c.1248+52A>G | - | IntronicSNV | - | 9/11 |
1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
17-67150176-T-C | ABCA10 | c.3787-26A>G | - | IntronicSNV | - | 32/39 |
1-55630151-T-C | USP24 | c.927+1407A>G | - | IntronicSNV | - | 7/67 |
6-34824636-A-G | UHRF1BP1 | c.1361A>G | p.Gln454Arg | Missense | 11/21 | - |
19-11222300-G-A | LDLR | c.1171G>A | p.Ala391Thr | Missense | 8/18 | - |
9-19376255-A-T | RPS6 | c.*36T>A | - | 3-UTRSNV | 6/6 | - |
19-45406673-G-A | TOMM40 | c.*247G>A | - | 3-UTRSNV | 10/10 | - |
17-65870073-C-T | BPTF | c.1661-860C>T | - | IntronicSNV | - | 3/29 |
5-74910870-A-G | ANKDD1B | c.194-1759A>G | - | IntronicSNV | - | 1/13 |
19-11303554-A-G | KANK2 | c.1202T>C | p.Met401Thr | Missense | 2/11 | - |
19-10668673-A-C | KRI1 | c.1334T>G | - | missense_variant | 14/19 | - |
17-76437343-G-A | DNAH17 | c.11529-62C>T | - | IntronicSNV | - | 71/80 |
1-63113719-T-C | DOCK7 | c.732+58A>G | - | IntronicSNV | - | 6/48 |
4-103188709-C-T | SLC39A8 | c.1171G>A | p.Ala391Thr | Missense | 7/8 | - |
4-103188709-C-A | SLC39A8 | c.1171G>T | p.Ala391Ser | Missense | 7/8 | - |
1-63135955-G-A | DOCK7 | c.39-7154C>T | - | IntronicSNV | - | 1/48 |
3-185510613-T-G | IGF2BP2 | c.239+30328A>C | - | IntronicSNV | - | 2/15 |
11-116732512-G-T | SIK3 | c.2171+45C>A | - | intron_variant | - | 17/23 |
5-156382308-A-G | TIMD4 | c.59-541T>C | - | IntronicSNV | - | 1/8 |
2-272203-C-T | ACP1 | c.231+53C>T | - | IntronicSNV | - | 3/5 |
17-67125840-C-G | ABCA6 | c.844G>C | p.Val282Leu | Missense | 7/39 | - |
16-56968039-G-A | HERPUD1 | c.148-1108G>A | - | IntronicSNV | - | 1/7 |
2-203519783-T-G | FAM117B | c.601+19272T>G | - | IntronicSNV | - | 1/7 |
6-160543148-C-T | SLC22A1 | c.181C>T | p.Arg61Cys | Missense | 1/11 | - |
15-58742906-G-C | LIPC | c.88+18587G>C | - | IntronicSNV | - | 1/8 |
6-16131156-T-C | MYLIP | c.278+178T>C | - | IntronicSNV | - | 2/6 |
17-67125840-C-T | ABCA6 | c.844G>A | p.Val282Ile | Missense | 7/39 | - |
2-118576719-T-C | DDX18 | c.371-506T>C | - | IntronicSNV | - | 2/13 |
19-20115517-C-G | ZNF682 | c.*1297G>C | - | 3-UTRSNV | 4/4 | - |
19-20115517-C-T | ZNF682 | c.*1297G>A | - | 3-UTRSNV | 4/4 | - |
1-55538552-T-G | USP24 | c.7527-18A>C | - | IntronicSNV | - | 64/67 |
4-72954415-G-A | NPFFR2 | c.300-39887G>A | - | IntronicSNV | - | 1/3 |
9-15305378-G-C | TTC39B | c.240+1704C>G | - | IntronicSNV | - | 1/19 |
2-44065090-G-T | ABCG5 | c.148C>A | p.Arg50Ser | Missense | 2/13 | - |
16-56921840-G-A | SLC12A3 | c.2182G>A | p.Ala728Thr | Missense | 18/26 | - |
8-19819439-A-G | LPL | c.1323-187A>G | - | IntronicSNV | - | 8/9 |
21-46875817-G-A | COL18A1 | c.373G>A | p.Val125Ile | Missense | 1/41 | - |
10-74637326-T-A | MCU | c.861+5988T>A | - | IntronicSNV | - | 6/7 |
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 | - |
1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
17-4692640-G-T | GLTPD2 | c.171+55G>T | - | IntronicSNV | - | 2/3 |
16-57052901-G-T | NLRC5 | c.1-1724G>T | - | IntronicSNV | - | 1/47 |
19-45723446-A-T | EXOC3L2 | c.541-1869T>A | - | IntronicSNV | - | 6/9 |
1-55638930-T-A | USP24 | c.559-737A>T | - | IntronicSNV | - | 3/67 |
11-116657561-C-T | ZPR1 | c.424+124G>A | - | IntronicSNV | - | 3/13 |
12-125299542-C-T | SCARB1 | c.403G>A | p.Val135Ile | Missense | 3/13 | - |
19-10962613-C-T | C19orf38 | c.340+1370C>T | - | IntronicSNV | - | 2/6 |
1-55512882-G-C | PCSK9 | c.523+563G>C | - | IntronicSNV | - | 3/11 |
17-4886829-C-T | CAMTA2 | c.136-491G>A | - | IntronicSNV | - | 3/22 |
9-107665739-G-A | ABCA1 | c.66+156C>T | - | IntronicSNV | - | 2/49 |
11-116639692-C-T | BUD13 | c.237+1153G>A | - | IntronicSNV | - | 2/9 |
1-55548991-C-T | USP24 | c.6929G>A | p.Arg2310Gln | Missense | 58/68 | - |
9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
20-62695931-G-A | TCEA2 | c.1-1907G>A | - | IntronicSNV | - | 2/10 |
17-66884879-G-A | ABCA8 | c.3025-1232C>T | - | IntronicSNV | - | 22/37 |
16-57003146-T-C | CETP | c.234-152T>C | - | IntronicSNV | - | 2/15 |
19-45524553-A-C | RELB | c.505-758A>C | - | IntronicSNV | - | 4/11 |
19-45524553-A-G | RELB | c.505-758A>G | - | IntronicSNV | - | 4/11 |
17-7462969-A-G | TNFSF13 | c.287A>G | p.Asn96Ser | Missense | 2/6 | - |
8-19815256-A-T | LPL | c.1019-1515A>T | - | IntronicSNV | - | 6/9 |
10-70346740-T-C | TET1 | c.1914+12731T>C | - | IntronicSNV | - | 2/11 |
18-47109955-A-G | LIPG | c.1187A>G | p.Asn396Ser | Missense | 8/10 | - |
18-47109955-A-C | LIPG | c.1187A>C | p.Asn396Thr | Missense | 8/10 | - |
22-38990662-G-A | FAM227A | c.1532+2547C>T | - | IntronicSNV | - | 15/16 |
16-57015091-G-C | CETP | c.1168G>C | p.Ala390Pro | Missense | 12/16 | - |
19-54759361-T-C | LILRB5 | c.740A>G | p.Asp247Gly | Missense | 5/13 | - |
11-116724232-C-T | SIK3 | c.3512-4233G>A | - | intron_variant | - | 20/23 |
19-45671925-C-A | TRAPPC6A | c.127-3473G>T | - | IntronicSNV | - | 1/5 |
19-45671925-C-T | TRAPPC6A | c.127-3473G>A | - | IntronicSNV | - | 1/5 |
15-40388492-T-A | BMF | c.454-4403A>T | - | IntronicSNV | - | 3/3 |
3-160086055-G-T | IFT80 | c.440-2115C>A | - | IntronicSNV | - | 5/19 |
11-64031241-C-T | PLCB3 | c.2534C>T | p.Ser845Leu | Missense | 21/31 | - |
19-45395266-G-A | TOMM40 | c.274+320G>A | - | IntronicSNV | - | 2/9 |
3-50113034-A-G | RBM6 | c.3246+271A>G | - | IntronicSNV | - | 20/20 |
19-45372354-T-G | NECTIN2 | c.479-2756T>G | - | IntronicSNV | - | 2/5 |
22-35711098-A-G | TOM1 | c.53-2772A>G | - | IntronicSNV | - | 1/14 |
9-117148430-G-T | AKNA | c.1-4817C>A | - | IntronicSNV | - | 1/21 |
19-11263650-G-A | SPC24 | c.160+2643C>T | - | IntronicSNV | - | 1/4 |
19-45373565-G-A | NECTIN2 | c.479-1545G>A | - | IntronicSNV | - | 2/5 |
17-67081278-A-G | ABCA6 | c.4075T>C | p.Cys1359Arg | Missense | 32/39 | - |
17-8216468-T-C | ARHGEF15 | c.830T>C | p.Leu277Pro | Missense | 3/16 | - |
1-161600591-T-C | FCGR3B | c.40+254A>G | - | IntronicSNV | - | 2/5 |
1-161600591-T-A | FCGR3B | c.40+254A>T | - | IntronicSNV | - | 2/5 |
15-63530965-A-T | RAB8B | c.125-5990A>T | - | IntronicSNV | - | 1/7 |
11-61624181-T-C | FADS2 | c.745-302T>C | - | IntronicSNV | - | 5/11 |
8-145022657-G-A | PLEC | c.194-9797C>T | - | IntronicSNV | - | 2/32 |
15-58299599-G-A | ALDH1A2 | c.430+3248C>T | - | IntronicSNV | - | 5/13 |
19-45479553-G-C | CLPTM1 | c.469-1047G>C | - | IntronicSNV | - | 4/13 |
19-45479553-G-A | CLPTM1 | c.469-1047G>A | - | IntronicSNV | - | 4/13 |
2-44081042-T-C | ABCG8 | c.964+1035T>C | - | IntronicSNV | - | 6/12 |
19-11315817-T-A | DOCK6 | c.5089-810A>T | - | IntronicSNV | - | 39/47 |
19-11315817-T-G | DOCK6 | c.5089-810A>C | - | IntronicSNV | - | 39/47 |
8-19824492-T-C | LPL | c.*1671T>C | - | 3-UTRSNV | 10/10 | - |
2-135762344-C-T | MAP3K19 | c.235+661G>A | - | IntronicSNV | - | 3/9 |
8-145022657-G-T | PLEC | c.194-9797C>A | - | IntronicSNV | - | 2/32 |
6-31105413-A-G | PSORS1C1 | c.14-794A>G | - | IntronicSNV | - | 3/5 |
12-125327384-G-A | SCARB1 | c.126+20757C>T | - | IntronicSNV | - | 1/12 |
1-55509213-G-A | PCSK9 | c.208-303G>A | - | IntronicSNV | - | 1/11 |
11-116650118-C-T | ZPR1 | c.1246-343G>A | - | IntronicSNV | - | 13/13 |
11-126250774-T-C | ST3GAL4 | c.-61+24577T>C | - | intron_variant | - | 1/10 |
15-63530965-A-C | RAB8B | c.125-5990A>C | - | IntronicSNV | - | 1/7 |
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 | - |
17-45451894-G-A | EFCAB13 | c.934G>A | p.Val312Ile | Missense | 12/25 | - |
3-47045846-C-T | NBEAL2 | c.6161C>T | p.Ser2054Phe | Missense | 37/54 | - |
19-11243445-A-G | LDLR | c.*1453A>G | - | 3-UTRSNV | 18/18 | - |
8-116599199-T-G | TRPS1 | c.2700+29A>C | - | IntronicSNV | - | 5/6 |
8-116599199-T-C | TRPS1 | c.2700+29A>G | - | IntronicSNV | - | 5/6 |
2-44022970-T-C | DYNC2LI1 | c.508-59T>C | - | IntronicSNV | - | 6/12 |
2-44043135-T-A | ABCG5 | c.1650-1407A>T | - | IntronicSNV | - | 11/12 |
2-44043135-T-G | ABCG5 | c.1650-1407A>C | - | IntronicSNV | - | 11/12 |
9-107586753-T-C | ABCA1 | c.2649A>G | p.Ile883Met | Missense | 18/50 | - |
7-72915521-G-A | BAZ1B | c.370-2493C>T | - | IntronicSNV | - | 3/19 |
19-41085400-T-A | SHKBP1 | c.401-830T>A | - | IntronicSNV | - | 6/17 |
19-41085400-T-G | SHKBP1 | c.401-830T>G | - | IntronicSNV | - | 6/17 |
1-55085125-A-G | ACOT11 | c.1630-11282A>G | - | IntronicSNV | - | 15/16 |
17-42336149-C-T | SLC4A1 | c.877-158G>A | - | IntronicSNV | - | 9/19 |
11-65561468-C-T | OVOL1 | c.101-34C>T | - | IntronicSNV | - | 1/3 |
2-21229446-G-C | APOB | c.10294C>G | p.Gln3432Glu | Missense | 26/29 | - |
1-55518316-C-T | PCSK9 | c.658-7C>T | - | IntronicSNV | - | 4/11 |
1-172346548-G-A | DNM3 | c.1894-1610G>A | - | IntronicSNV | - | 17/20 |
2-234679384-C-T | UGT1A1 | c.1305-1524C>T | - | IntronicSNV | - | 4/4 |
11-116692334-C-T | APOA4 | c.440G>A | p.Ser147Asn | Missense | 3/3 | - |
19-11161537-C-A | SMARCA4 | c.4425-7394C>A | - | IntronicSNV | - | 30/34 |
10-52573772-C-A | A1CF | c.1168G>T | p.Gly390Cys | Missense | 10/13 | - |
2-21237544-G-A | APOB | c.3697-79C>T | - | IntronicSNV | - | 23/28 |
8-10643164-C-T | PINX1 | c.472-19738G>A | - | IntronicSNV | - | 6/6 |
17-47422363-G-A | ZNF652 | c.-259+17412C>T | - | intron_variant | - | 1/5 |
8-10643164-C-G | PINX1 | c.472-19738G>C | - | IntronicSNV | - | 6/6 |
11-116957907-C-G | SIK3 | c.273+10952G>C | - | intron_variant | - | 1/23 |
8-106357374-A-C | ZFPM2 | c.40+26165A>C | - | IntronicSNV | - | 1/7 |
3-136272246-T-C | STAG1 | c.395-11209A>G | - | IntronicSNV | - | 5/33 |
19-19679560-C-T | PBX4 | c.768+698G>A | - | IntronicSNV | - | 5/7 |
16-53800954-T-C | FTO | c.46-43098T>C | - | IntronicSNV | - | 1/8 |
15-40916237-A-G | KNL1 | c.3775A>G | p.Lys1259Glu | Missense | 10/26 | - |
1-28344980-A-G | EYA3 | c.500-1230T>C | - | IntronicSNV | - | 7/17 |
20-43042364-C-T | HNF4A | c.416C>T | p.Thr139Ile | Missense | 4/10 | - |
7-129663496-C-A | ZC3HC1 | c.1088G>T | p.Arg363Leu | Missense | 8/10 | - |
1-109817838-T-C | CELSR2 | c.*1167T>C | - | 3-UTRSNV | 34/34 | - |
1-55085141-A-G | ACOT11 | c.1630-11266A>G | - | IntronicSNV | - | 15/16 |
19-11233941-A-G | LDLR | c.2232A>G | p.Arg744Arg | Synonymous | 15/18 | - |
11-116838130-A-C | SIK3 | c.274-10350T>G | - | intron_variant | - | 1/23 |
20-39913996-T-C | ZHX3 | c.-245+14610A>G | - | intron_variant | - | 1/3 |
19-50028163-A-T | FCGRT | c.871+130A>T | - | IntronicSNV | - | 5/6 |
2-44082362-A-G | ABCG8 | c.964+2355A>G | - | IntronicSNV | - | 6/12 |
19-50028163-A-G | FCGRT | c.871+130A>G | - | IntronicSNV | - | 5/6 |
19-11207516-G-A | LDLR | c.68-3383G>A | - | IntronicSNV | - | 1/17 |
14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
11-116741553-G-A | SIK3 | c.1738-436C>T | - | intron_variant | - | 13/23 |
3-58381287-G-A | PXK | c.721-98G>A | - | IntronicSNV | - | 8/17 |
10-5260682-C-G | AKR1C4 | c.931C>G | p.Leu311Val | Missense | 9/9 | - |
15-58761235-G-A | LIPC | c.88+36916G>A | - | IntronicSNV | - | 1/8 |
1-55505647-G-T | PCSK9 | c.137G>T | p.Arg46Leu | Missense | 1/12 | - |
1-55505647-G-A | PCSK9 | c.137G>A | p.Arg46His | Missense | 1/12 | - |
6-31903804-G-C | C2 | c.954G>C | p.Glu318Asp | Missense | 7/18 | - |
6-31903804-G-A | C2 | c.954G>A | p.Glu318Glu | Synonymous | 7/18 | - |
1-220972343-A-T | MARC1 | c.753+987A>T | - | IntronicSNV | - | 4/6 |
15-59368167-G-A | RNF111 | c.1701G>A | p.Val567Val | Synonymous | 7/14 | - |
9-107578620-G-A | ABCA1 | c.3542C>T | p.Ser1181Phe | Missense | 25/50 | - |
1-18808292-C-A | KLHDC7A | c.817C>A | p.His273Asn | Missense | 1/1 | - |
8-19817997-G-C | LPL | c.1140-415G>C | - | IntronicSNV | - | 7/9 |
15-58838010-A-G | LIPC | c.644A>G | p.Asn215Ser | Missense | 5/9 | - |
19-11347493-T-C | DOCK6 | c.2136A>G | p.Thr712Thr | Synonymous | 19/48 | - |
20-56140439-G-A | PCK1 | c.1448G>A | p.Arg483Gln | Missense | 10/10 | - |
3-12393125-C-G | PPARG | c.1-28080C>G | - | IntronicSNV | - | 1/6 |
20-62196253-C-A | HELZ2 | c.3922G>T | p.Val1308Leu | Missense | 9/20 | - |
17-76395430-C-T | PGS1 | c.513C>T | p.Gly171Gly | Synonymous | 5/10 | - |
20-62196253-C-T | HELZ2 | c.3922G>A | p.Val1308Met | Missense | 9/20 | - |
19-2814181-C-G | THOP1 | c.*907C>G | - | IntergenicSNV | 13/13 | - |
20-32648738-A-G | RALY | c.1-11143A>G | - | IntronicSNV | - | 2/8 |
18-47118219-T-C | LIPG | c.*1327T>C | - | 3-UTRSNV | 10/10 | - |
19-10916684-C-T | DNM2 | c.1545+41C>T | - | IntronicSNV | - | 13/19 |
11-66297363-C-A | BBS1 | c.1413C>A | p.Leu471Leu | Synonymous | 14/17 | - |
16-15148646-C-A | NTAN1 | c.81+1102G>T | - | IntronicSNV | - | 1/9 |
6-101296389-G-A | ASCC3 | c.436C>T | p.Leu146Phe | Missense | 4/42 | - |
1-230415293-C-T | GALNT2 | c.*89C>T | - | 3-UTRSNV | 16/16 | - |
21-46901973-A-C | COL18A1 | c.2214+34A>C | - | IntronicSNV | - | 13/40 |
1-55334001-G-A | DHCR24 | c.877-2882C>T | - | IntronicSNV | - | 5/8 |
2-27801759-A-G | C2orf16 | c.2320A>G | p.Ile774Val | Missense | 1/1 | - |
13-111025118-A-G | COL4A2 | c.180+15219A>G | - | IntronicSNV | - | 4/47 |
17-4692640-G-A | GLTPD2 | c.171+55G>A | - | IntronicSNV | - | 2/3 |
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 | - |
1-92993807-C-T | EVI5 | c.2119-14280G>A | - | IntronicSNV | - | 17/17 |
19-54676763-C-A | TMC4 | c.50G>T | p.Gly17Val | Missense | 1/15 | - |
19-54676763-C-T | TMC4 | c.50G>A | p.Gly17Glu | Missense | 1/15 | - |
15-59301460-G-A | RNF111 | c.-20+21193G>A | - | intron_variant | - | 1/13 |
11-116896155-A-C | SIK3 | c.274-68375T>G | - | intron_variant | - | 1/23 |
2-27730940-T-C | GCKR | c.1337T>C | p.Leu446Pro | Missense | 15/19 | - |
19-11206575-G-A | LDLR | c.68-4324G>A | - | IntronicSNV | - | 1/17 |
19-11263650-G-T | SPC24 | c.160+2643C>A | - | IntronicSNV | - | 1/4 |
19-54759361-T-G | LILRB5 | c.740A>C | p.Asp247Ala | Missense | 5/13 | - |
15-59301460-G-T | RNF111 | c.-20+21193G>T | - | intron_variant | - | 1/13 |
7-72856430-T-C | BAZ1B | c.*96A>G | - | IntronicSNV | - | 19/19 |
19-45411110-T-C | APOE | c.137T>C | p.Leu46Pro | Missense | 3/4 | - |
17-73782191-T-C | UNK | c.104+1126T>C | - | IntronicSNV | - | 1/15 |
4-939113-G-T | TMEM175 | c.1-2415G>T | - | IntronicSNV | - | 1/10 |
2-53992622-G-C | GPR75-ASB3 | c.202C>G | p.Leu68Val | Missense | 2/10 | - |
11-13355770-C-T | ARNTL | c.-135+7756C>T | - | intron_variant | - | 3/19 |
11-126228659-T-G | ST3GAL4 | c.-61+2462T>G | - | intron_variant | - | 1/10 |
4-939113-G-A | TMEM175 | c.1-2415G>A | - | IntronicSNV | - | 1/10 |
19-20139234-T-A | ZNF682 | c.4-4049A>T | - | IntronicSNV | - | 1/3 |
1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
20-44598670-T-A | ZNF335 | c.202-340A>T | - | IntronicSNV | - | 2/27 |
20-44598670-T-C | ZNF335 | c.202-340A>G | - | IntronicSNV | - | 2/27 |
20-44686926-G-T | SLC12A5 | c.*682G>T | - | 3-UTRSNV | 26/26 | - |
2-28006500-C-T | RBKS | c.796-1845G>A | - | IntronicSNV | - | 7/7 |
19-19366632-C-T | HAPLN4 | c.*1994G>A | - | 3-UTRSNV | 5/5 | - |
2-21233972-T-C | APOB | c.5768A>G | p.His1923Arg | Missense | 26/29 | - |
17-4774814-C-G | MINK1 | c.58-6798C>G | - | IntronicSNV | - | 1/30 |
3-12434901-C-T | PPARG | c.535+650C>T | - | IntronicSNV | - | 4/6 |
17-45732774-C-A | KPNB1 | c.283-1452C>A | - | IntronicSNV | - | 3/21 |
4-89740128-G-A | FAM13A | c.29+3999C>T | - | IntronicSNV | - | 1/17 |
2-21237544-G-T | APOB | c.3697-79C>A | - | IntronicSNV | - | 23/28 |
10-101912064-T-C | ERLIN1 | c.871A>G | p.Ile291Val | Missense | 11/11 | - |
6-42932200-G-C | PEX6 | c.2816C>G | p.Pro939Arg | Missense | 17/17 | - |
16-56936563-A-G | SLC12A3 | c.2883+143A>G | - | IntronicSNV | - | 24/25 |
16-85711860-C-T | GINS2 | c.516G>A | p.Thr172Thr | Synonymous | 5/5 | - |
3-155547274-C-T | SLC33A1 | c.1482+203G>A | - | IntronicSNV | - | 5/5 |
2-44079004-T-C | ABCG8 | c.561+43T>C | - | IntronicSNV | - | 4/12 |
6-42932200-G-T | PEX6 | c.2816C>A | p.Pro939Gln | Missense | 17/17 | - |
22-30888527-C-T | SEC14L4 | c.598G>A | p.Val200Met | Missense | 8/12 | - |
19-11358700-T-C | DOCK6 | c.806+42A>G | - | IntronicSNV | - | 7/47 |
9-107661150-C-A | ABCA1 | c.66+4745G>T | - | IntronicSNV | - | 2/49 |
16-67714560-A-G | GFOD2 | c.260-4604T>C | - | IntronicSNV | - | 2/2 |
15-58793567-G-C | LIPC | c.89-36965G>C | - | IntronicSNV | - | 1/8 |
17-34854280-G-A | MYO19 | c.1987C>T | p.Leu663Phe | Missense | 21/22 | - |
11-118486067-T-C | PHLDB1 | c.184+670T>C | - | IntronicSNV | - | 4/23 |
1-55638075-G-T | USP24 | c.677C>A | p.Thr226Asn | Missense | 4/68 | - |
5-74909972-C-T | ANKDD1B | c.193+2320C>T | - | IntronicSNV | - | 1/13 |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
15-59356659-C-G | RNF111 | c.1367-2304C>G | - | IntronicSNV | - | 5/13 |
19-18724315-C-A | TMEM59L | c.172-367C>A | - | IntronicSNV | - | 1/7 |
15-101890913-G-A | PCSK6 | c.1855+15488C>T | - | intron_variant | - | 14/22 |
6-127452935-C-T | RSPO3 | c.97+12501C>T | - | IntronicSNV | - | 1/4 |
5-74909972-C-G | ANKDD1B | c.193+2320C>G | - | IntronicSNV | - | 1/13 |
2-21250914-G-A | APOB | c.1853C>T | p.Ala618Val | Missense | 14/29 | - |
15-59351989-A-G | RNF111 | c.1366+1240A>G | - | IntronicSNV | - | 5/13 |
11-47663049-A-G | MTCH2 | c.87+882T>C | - | IntronicSNV | - | 1/12 |
12-109696838-G-A | ACACB | c.6421G>A | p.Val2141Ile | Missense | 47/53 | - |
17-46022065-G-A | PNPO | c.347G>A | p.Arg116Gln | Missense | 3/7 | - |
9-15304782-C-A | TTC39B | c.240+2300G>T | - | IntronicSNV | - | 1/19 |
19-45160086-C-T | PVR | c.843-944C>T | - | IntronicSNV | - | 4/7 |
11-117222592-G-A | CEP164 | c.281G>A | p.Ser94Asn | Missense | 5/33 | - |
2-21238413-C-G | APOB | c.3337G>C | p.Asp1113His | Missense | 22/29 | - |
19-11129429-C-G | SMARCA4 | c.2439-204C>G | - | IntronicSNV | - | 16/34 |
19-49206417-A-G | FUT2 | c.204A>G | p.Ala68Ala | Synonymous | 2/2 | - |
8-11702375-G-A | CTSB | c.*259C>T | - | 3-UTRSNV | 12/12 | - |
2-27743215-A-G | GCKR | c.1572+1411A>G | - | IntronicSNV | - | 17/18 |
1-153854380-C-T | GATAD2B | c.-2+40829G>A | - | intron_variant | - | 1/10 |
1-55505668-C-T | PCSK9 | c.158C>T | p.Ala53Val | Missense | 1/12 | - |
15-58837722-G-A | LIPC | c.575-219G>A | - | IntronicSNV | - | 4/8 |
1-62922660-G-A | DOCK7 | c.6287+549C>T | - | IntronicSNV | - | 48/48 |
2-158465673-C-G | ACVR1C | c.73+19411G>C | - | IntronicSNV | - | 1/8 |
15-57912338-C-T | GCOM1 | c.319-1468C>T | - | IntronicSNV | - | 3/13 |
16-57017319-G-A | CETP | c.1403G>A | p.Arg468Gln | Missense | 15/16 | - |
3-185818882-A-G | ETV5 | c.232+4212T>C | - | IntronicSNV | - | 5/12 |
16-57000938-G-A | CETP | c.234-2360G>A | - | IntronicSNV | - | 2/15 |
2-21225485-C-T | APOB | c.12809G>A | p.Arg4270Lys | Missense | 29/29 | - |
5-74997756-T-C | POC5 | c.438+674A>G | - | IntronicSNV | - | 4/10 |
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 | - |
12-111884608-T-C | SH2B3 | c.784T>C | p.Trp262Arg | Missense | 3/8 | - |
11-116651115-C-G | ZPR1 | c.1180-562G>C | - | IntronicSNV | - | 12/13 |
8-19813529-A-G | LPL | c.953A>G | p.Asn318Ser | Missense | 6/10 | - |
16-56995935-C-A | CETP | c.44C>A | p.Ala15Asp | Missense | 1/16 | - |
1-54636232-C-T | CYB5RL | c.*4060G>A | - | IntergenicSNV | 8/8 | - |
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 | - |
1-55521109-G-C | PCSK9 | c.800-557G>C | - | IntronicSNV | - | 5/11 |
1-55521109-G-A | PCSK9 | c.800-557G>A | - | IntronicSNV | - | 5/11 |
5-52193237-A-G | ITGA1 | c.1091-49A>G | - | IntronicSNV | - | 9/28 |
12-111884608-T-A | SH2B3 | c.784T>A | p.Trp262Arg | Missense | 3/8 | - |
3-12359049-G-A | PPARG | c.-3+29530G>A | - | intron_variant | - | 1/6 |
1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
12-123491572-G-A | PITPNM2 | c.644-1477C>T | - | IntronicSNV | - | 5/24 |
16-57006590-C-T | CETP | c.750+595C>T | - | IntronicSNV | - | 8/15 |
19-45410444-G-A | APOE | c.43+520G>A | - | IntronicSNV | - | 2/3 |
15-44246293-C-A | FRMD5 | c.103-29786G>T | - | IntronicSNV | - | 1/13 |
9-107661150-C-T | ABCA1 | c.66+4745G>A | - | IntronicSNV | - | 2/49 |
9-2640759-A-G | VLDLR | c.326-618A>G | - | IntronicSNV | - | 3/18 |
18-47113165-C-G | LIPG | c.1426C>G | p.Arg476Gly | Missense | 9/10 | - |
19-45315445-G-A | BCAM | c.230G>A | p.Arg77His | Missense | 3/15 | - |
19-45315445-G-C | BCAM | c.230G>C | p.Arg77Pro | Missense | 3/15 | - |
6-161082461-T-C | LPA | c.49+2737A>G | - | IntronicSNV | - | 1/38 |
17-18221134-C-T | SMCR8 | c.2031C>T | p.Tyr677Tyr | Synonymous | 1/2 | - |
8-106357374-A-G | ZFPM2 | c.40+26165A>G | - | IntronicSNV | - | 1/7 |
19-52324216-G-C | FPR3 | c.1-2786G>C | - | IntronicSNV | - | 1/1 |
19-52324216-G-A | FPR3 | c.1-2786G>A | - | IntronicSNV | - | 1/1 |
7-87076587-C-A | ABCB4 | c.834-66G>T | - | IntronicSNV | - | 8/27 |
9-107557315-G-A | ABCA1 | c.5383-524C>T | - | IntronicSNV | - | 39/49 |
5-74782412-T-A | COL4A3BP | c.231+19395A>T | - | IntronicSNV | - | 2/17 |
6-161006077-C-T | LPA | c.4289+1G>A | - | IntronicSNV | - | 26/38 |
10-52573772-C-T | A1CF | c.1168G>A | p.Gly390Ser | Missense | 10/13 | - |
1-62960250-T-C | DOCK7 | c.4932-112A>G | - | IntronicSNV | - | 38/48 |
20-17596155-C-A | RRBP1 | c.2672G>T | p.Arg891Leu | Missense | 24/26 | - |
20-17596155-C-T | RRBP1 | c.2672G>A | p.Arg891Gln | Missense | 24/26 | - |
16-57007353-C-T | CETP | c.861C>T | p.Phe287Phe | Synonymous | 9/16 | - |
15-59286876-C-T | RNF111 | c.-20+6609C>T | - | intron_variant | - | 1/13 |
1-55638075-G-A | USP24 | c.677C>T | p.Thr226Ile | Missense | 4/68 | - |
19-11233886-C-T | LDLR | c.2177C>T | p.Thr726Ile | Missense | 15/18 | - |
15-59504897-T-C | MYO1E | c.1275+1530A>G | - | IntronicSNV | - | 12/27 |
1-23734350-A-T | TCEA3 | c.443+807T>A | - | IntronicSNV | - | 5/10 |
4-88049850-T-C | AFF1 | c.2943+995T>C | - | IntronicSNV | - | 15/19 |
1-54639713-G-A | CYB5RL | c.*579C>T | - | 3-UTRSNV | 8/8 | - |
1-23734350-A-G | TCEA3 | c.443+807T>C | - | IntronicSNV | - | 5/10 |
1-23734350-A-C | TCEA3 | c.443+807T>G | - | IntronicSNV | - | 5/10 |
15-59356659-C-T | RNF111 | c.1367-2304C>T | - | IntronicSNV | - | 5/13 |
17-17425631-C-T | PEMT | c.172G>A | p.Val58Ile | Missense | 3/7 | - |
4-3473139-A-G | DOK7 | c.101-1994A>G | - | IntronicSNV | - | 2/6 |
1-110082886-C-T | GPR61 | c.-602+311C>T | - | intron_variant | - | 1/2 |
8-145026582-G-A | PLEC | c.194-13722C>T | - | IntronicSNV | - | 2/32 |
1-54824117-G-A | SSBP3 | c.276+43417C>T | - | IntronicSNV | - | 4/16 |
1-55638546-T-C | USP24 | c.559-353A>G | - | IntronicSNV | - | 3/67 |
19-11038843-G-A | YIPF2 | c.32-208C>T | - | IntronicSNV | - | 2/9 |
1-220985811-T-C | MARC1 | c.888-823T>C | - | IntronicSNV | - | 6/6 |
15-58857378-A-G | LIPC | c.1388+1456A>G | - | IntronicSNV | - | 8/8 |
7-1049949-G-A | C7orf50 | c.130-170C>T | - | IntronicSNV | - | 2/4 |
1-57006537-G-A | PLPP3 | c.140-3753C>T | - | IntronicSNV | - | 1/5 |
12-21331549-T-C | SLCO1B1 | c.521T>C | p.Val174Ala | Missense | 6/15 | - |
2-21225485-C-G | APOB | c.12809G>C | p.Arg4270Thr | Missense | 29/29 | - |
19-44536189-A-G | ZNF222 | c.482A>G | p.Asn161Ser | Missense | 4/4 | - |
12-111884608-T-G | SH2B3 | c.784T>G | p.Trp262Gly | Missense | 3/8 | - |
12-49399132-G-C | PRKAG1 | c.266C>G | p.Thr89Ser | Missense | 5/12 | - |
19-8429323-G-A | ANGPTL4 | c.118G>A | p.Glu40Lys | Missense | 1/7 | - |
11-116633947-G-A | BUD13 | c.358C>T | p.Arg120Cys | Missense | 4/10 | - |
19-7244884-T-C | INSR | c.652+22472A>G | - | IntronicSNV | - | 2/21 |
4-858332-C-G | GAK | c.3166+578G>C | - | IntronicSNV | - | 23/27 |
15-101890913-G-C | PCSK6 | c.1855+15488C>G | - | intron_variant | - | 14/22 |
14-94844947-C-T | SERPINA1 | c.1096G>A | p.Glu366Lys | Missense | 5/5 | - |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
15-58761235-G-C | LIPC | c.88+36916G>C | - | IntronicSNV | - | 1/8 |
12-109937534-G-A | UBE3B | c.1037G>A | p.Arg346Gln | Missense | 12/28 | - |
16-72003952-G-C | PKD1L3 | c.2006C>G | p.Thr669Ser | Missense | 13/31 | - |
12-53866619-G-T | PCBP2 | c.1064+1028G>T | - | IntronicSNV | - | 14/14 |
19-44892775-T-C | ZNF285 | c.143-511A>G | - | IntronicSNV | - | 3/3 |
15-59450895-A-T | MYO1E | c.2786-317T>A | - | IntronicSNV | - | 24/27 |
17-37815304-G-C | STARD3 | c.647G>C | p.Gly216Ala | Missense | 8/15 | - |
12-121416650-A-T | HNF1A | c.79A>T | p.Ile27Phe | Missense | 1/10 | - |
2-27566520-T-A | GTF3C2 | c.1-99A>T | - | IntronicSNV | - | 1/18 |
2-21231524-G-A | APOB | c.8216C>T | p.Pro2739Leu | Missense | 26/29 | - |
2-21231524-G-T | APOB | c.8216C>A | p.Pro2739Gln | Missense | 26/29 | - |
18-47113165-C-T | LIPG | c.1426C>T | p.Arg476Trp | Missense | 9/10 | - |
2-27726437-A-C | GCKR | c.701A>C | p.Gln234Pro | Missense | 9/19 | - |
19-45395619-A-G | TOMM40 | c.275-31A>G | - | IntronicSNV | - | 2/9 |
17-4801101-A-C | CHRNE | c.*930T>G | - | 3-UTRSNV | 12/12 | - |
15-58342102-A-G | ALDH1A2 | c.54+8108T>C | - | IntronicSNV | - | 2/13 |
19-45448465-T-A | APOC4 | c.287T>A | p.Leu96His | Missense | 3/3 | - |
5-132349654-T-G | ZCCHC10 | c.42-7042A>C | - | IntronicSNV | - | 1/3 |
20-44586023-C-T | ZNF335 | c.2442+202G>A | - | IntronicSNV | - | 17/27 |
19-45565918-C-T | CLASRP | c.905+465C>T | - | IntronicSNV | - | 11/20 |
20-46340596-T-G | SULF2 | c.416-9182A>C | - | IntronicSNV | - | 3/20 |
20-46340596-T-C | SULF2 | c.416-9182A>G | - | IntronicSNV | - | 3/20 |
10-124610027-G-A | FAM24B | c.5C>T | p.Pro2Leu | Missense | 3/4 | - |
22-29451671-A-G | ZNRF3 | c.*2061A>G | - | 3-UTRSNV | 9/9 | - |
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 | - |
15-59531818-T-C | MYO1E | c.333-2947A>G | - | IntronicSNV | - | 4/27 |
12-101873956-C-T | SPIC | c.210+484C>T | - | IntronicSNV | - | 4/5 |
8-19816934-T-C | LPL | c.1139+43T>C | - | IntronicSNV | - | 7/9 |
1-220970593-T-G | MARC1 | c.612+446T>G | - | IntronicSNV | - | 3/6 |
1-220970593-T-C | MARC1 | c.612+446T>C | - | IntronicSNV | - | 3/6 |
11-109995944-C-T | ZC3H12C | c.22-11444C>T | - | IntronicSNV | - | 1/5 |
2-44075483-T-C | ABCG8 | c.322+2033T>C | - | IntronicSNV | - | 3/12 |
6-161010118-A-G | LPA | c.3947+467T>C | - | IntronicSNV | - | 24/38 |
2-27730940-T-G | GCKR | c.1337T>G | p.Leu446Arg | Missense | 15/19 | - |
11-2936952-G-A | SLC22A18 | c.537-900G>A | - | IntronicSNV | - | 5/10 |
11-2936952-G-T | SLC22A18 | c.537-900G>T | - | IntronicSNV | - | 5/10 |
16-56997233-G-A | CETP | c.233+197G>A | - | IntronicSNV | - | 2/15 |
1-55448248-G-A | TMEM61 | c.15+1495G>A | - | IntronicSNV | - | 1/2 |
12-125265636-A-G | SCARB1 | c.*1593T>C | - | IntronicSNV | - | 12/12 |
9-107665978-C-T | ABCA1 | c.1-18G>A | - | 5-UTRSNV | 2/50 | - |
16-56935090-G-C | SLC12A3 | c.2748-1195G>C | - | IntronicSNV | - | 23/25 |
9-107665978-C-G | ABCA1 | c.1-18G>C | - | 5-UTRSNV | 2/50 | - |
15-59751872-C-T | FAM81A | c.21-260C>T | - | IntronicSNV | - | 2/8 |
19-45254168-C-A | BCL3 | c.257-316C>A | - | IntronicSNV | - | 1/8 |
5-53300662-A-G | ARL15 | c.462+108370T>C | - | IntronicSNV | - | 4/4 |
8-19805708-G-C | LPL | c.106G>C | p.Asp36His | Missense | 2/10 | - |
8-19805708-G-A | LPL | c.106G>A | p.Asp36Asn | Missense | 2/10 | - |
15-59010962-C-T | ADAM10 | c.56-1036G>A | - | IntronicSNV | - | 1/15 |
6-137076010-C-T | MAP3K5 | c.449-34283G>A | - | IntronicSNV | - | 1/29 |
19-44892775-T-A | ZNF285 | c.143-511A>T | - | IntronicSNV | - | 3/3 |
1-62943007-G-T | DOCK7 | c.5541+364C>A | - | IntronicSNV | - | 43/48 |
2-202122995-A-G | CASP8 | c.1-8215A>G | - | IntronicSNV | - | 2/9 |
2-44085035-C-A | ABCG8 | c.964+5028C>A | - | IntronicSNV | - | 6/12 |
19-59023174-A-G | SLC27A5 | c.149T>C | p.Met50Thr | Missense | 1/10 | - |
16-921179-G-A | LMF1 | c.1060C>T | p.Arg354Trp | Missense | 7/11 | - |
16-72144174-T-G | DHX38 | c.3478-681T>G | - | IntronicSNV | - | 25/26 |
12-123796238-C-T | SBNO1 | c.3218-562G>A | - | IntronicSNV | - | 24/31 |
1-54196340-G-A | GLIS1 | c.-267+3237C>T | - | intron_variant | - | 1/9 |
17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
11-61599347-G-A | FADS2 | c.207+3278G>A | - | IntronicSNV | - | 1/11 |
19-11146499-T-C | SMARCA4 | c.4170+691T>C | - | IntronicSNV | - | 29/34 |
19-47589895-T-C | ZC3H4 | c.716-100A>G | - | IntronicSNV | - | 5/14 |
4-964359-C-T | DGKQ | c.351+422G>A | - | IntronicSNV | - | 2/22 |
7-44578500-G-A | NPC1L1 | c.1496C>T | p.Thr499Met | Missense | 2/20 | - |
9-139368953-G-T | SEC16A | c.3115C>A | p.Arg1039Ser | Missense | 3/32 | - |
18-47097398-A-G | LIPG | c.571+1480A>G | - | IntronicSNV | - | 4/9 |
20-33734493-G-A | EDEM2 | c.218+135C>T | - | IntronicSNV | - | 2/10 |
12-124464836-G-T | ZNF664 | c.-757+6269G>T | - | intron_variant | - | 2/4 |
2-27550967-A-G | GTF3C2 | c.2346T>C | p.Pro782Pro | Synonymous | 17/19 | - |
3-170725730-C-T | SLC2A2 | c.497-678G>A | - | IntronicSNV | - | 4/10 |
4-100504664-T-C | MTTP | c.383T>C | p.Ile128Thr | Missense | 4/19 | - |
9-139368953-G-A | SEC16A | c.3115C>T | p.Arg1039Cys | Missense | 3/32 | - |
16-57002404-C-A | CETP | c.234-894C>A | - | IntronicSNV | - | 2/15 |
16-56999258-A-C | CETP | c.233+2222A>C | - | IntronicSNV | - | 2/15 |
1-55584844-G-A | USP24 | c.4508+1425C>T | - | IntronicSNV | - | 38/67 |
15-58837515-G-C | LIPC | c.575-426G>C | - | IntronicSNV | - | 4/8 |
7-44578500-G-C | NPC1L1 | c.1496C>G | p.Thr499Arg | Missense | 2/20 | - |
10-113940329-T-G | GPAM | c.127A>C | p.Ile43Leu | Missense | 4/22 | - |
10-113940329-T-C | GPAM | c.127A>G | p.Ile43Val | Missense | 4/22 | - |
13-32973439-A-G | BRCA2 | c.*532A>G | - | 3-UTRSNV | 27/27 | - |
22-45996298-A-G | FBLN1 | c.2084A>G | p.His695Arg | Missense | 17/17 | - |
1-156700651-T-G | RRNAD1 | c.112-1132T>G | - | IntronicSNV | - | 1/7 |
15-63970456-T-C | HERC1 | c.6658A>G | p.Ile2220Val | Missense | 37/78 | - |
2-219555262-G-T | STK36 | c.1748G>T | p.Arg583Leu | Missense | 14/27 | - |
4-100045616-C-T | ADH4 | c.1120G>A | p.Val374Ile | Missense | 9/9 | - |
19-11239696-C-T | LDLR | c.2390-493C>T | - | IntronicSNV | - | 16/17 |
15-58731818-C-T | LIPC | c.88+7499C>T | - | IntronicSNV | - | 1/8 |
7-150217309-C-G | GIMAP7 | c.247C>G | p.Arg83Gly | Missense | 2/2 | - |
19-45361574-G-C | NECTIN2 | c.89-6954G>C | - | IntronicSNV | - | 1/5 |
9-19376255-A-C | RPS6 | c.*36T>G | - | 3-UTRSNV | 6/6 | - |
12-121420807-G-A | HNF1A | c.326+3910G>A | - | IntronicSNV | - | 1/9 |
15-58726744-G-C | LIPC | c.88+2425G>C | - | IntronicSNV | - | 1/8 |
7-17911038-C-T | SNX13 | c.753+2113G>A | - | IntronicSNV | - | 8/25 |
19-11257169-C-G | SPC24 | c.*690G>C | - | IntergenicSNV | 5/5 | - |
2-219555262-G-A | STK36 | c.1748G>A | p.Arg583Gln | Missense | 14/27 | - |
19-35556744-T-C | HPN | c.1051-28T>C | - | IntronicSNV | - | 12/13 |
1-110470764-G-A | CSF1 | c.*14-710G>A | - | intron_variant | - | 8/8 |
16-57007446-T-A | CETP | c.930+24T>A | - | IntronicSNV | - | 9/15 |
16-57007446-T-G | CETP | c.930+24T>G | - | IntronicSNV | - | 9/15 |
15-58731818-C-A | LIPC | c.88+7499C>A | - | IntronicSNV | - | 1/8 |
7-150217309-C-T | GIMAP7 | c.247C>T | p.Arg83Cys | Missense | 2/2 | - |
11-117015189-G-C | PAFAH1B2 | c.-8+55G>C | - | intron_variant | - | 1/5 |
19-45361574-G-A | NECTIN2 | c.89-6954G>A | - | IntronicSNV | - | 1/5 |
19-45361574-G-T | NECTIN2 | c.89-6954G>T | - | IntronicSNV | - | 1/5 |
19-20139610-G-A | ZNF682 | c.4-4425C>T | - | IntronicSNV | - | 1/3 |
19-19702384-G-A | PBX4 | c.193+7717C>T | - | IntronicSNV | - | 2/7 |
19-11257169-C-T | SPC24 | c.*690G>A | - | IntergenicSNV | 5/5 | - |
17-47422363-G-C | ZNF652 | c.-259+17412C>G | - | intron_variant | - | 1/5 |
12-111885310-G-A | SH2B3 | c.1198G>A | p.Glu400Lys | Missense | 6/8 | - |
16-72101525-C-G | HPR | c.5+4366C>G | - | IntronicSNV | - | 1/4 |
19-45356517-G-A | NECTIN2 | c.88+6647G>A | - | IntronicSNV | - | 1/5 |
6-36645696-A-G | CDKN1A | c.-20A>G | - | 5_prime_UTR_variant | 2/4 | - |
12-125283766-C-T | SCARB1 | c.1128+904G>A | - | IntronicSNV | - | 8/12 |
3-136006576-T-C | PCCB | c.654+3787T>C | - | IntronicSNV | - | 6/14 |
7-21476188-A-G | SP4 | c.1678+5727A>G | - | IntronicSNV | - | 3/5 |
5-74380959-A-G | ANKRD31 | c.5302-760T>C | - | IntronicSNV | - | 22/24 |
1-55505861-G-A | PCSK9 | c.207+144G>A | - | IntronicSNV | - | 1/11 |
17-67149972-C-T | ABCA10 | c.3965G>A | p.Arg1322Gln | Missense | 33/40 | - |
16-56883438-G-A | NUP93 | c.*4917G>A | - | IntergenicSNV | 22/22 | - |
6-34268107-G-C | RPS10-NUDT3 | c.568-4645C>G | - | IntronicSNV | - | 6/8 |
1-54389320-T-C | HSPB11 | c.318+257A>G | - | IntronicSNV | - | 5/5 |
2-21238367-C-T | APOB | c.3383G>A | p.Arg1128His | Missense | 22/29 | - |
6-109246891-A-G | ARMC2 | c.1351-2400A>G | - | IntronicSNV | - | 10/17 |
1-93584606-G-A | MTF2 | c.729-284G>A | - | IntronicSNV | - | 7/14 |
12-122963550-C-T | ZCCHC8 | c.1141-711G>A | - | IntronicSNV | - | 11/13 |
19-8467235-T-C | RAB11B | c.430+72T>C | - | IntronicSNV | - | 3/4 |
6-34268107-G-T | RPS10-NUDT3 | c.568-4645C>A | - | IntronicSNV | - | 6/8 |
11-116908283-A-T | SIK3 | c.273+60576T>A | - | intron_variant | - | 1/23 |
11-116908283-A-G | SIK3 | c.273+60576T>C | - | intron_variant | - | 1/23 |
4-89741269-G-C | FAM13A | c.29+2858C>G | - | IntronicSNV | - | 1/17 |
7-73020337-C-G | MLXIPL | c.723G>C | p.Gln241His | Missense | 6/17 | - |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
2-27711893-A-G | IFT172 | c.39+589T>C | - | IntronicSNV | - | 1/47 |
2-27711893-A-C | IFT172 | c.39+589T>G | - | IntronicSNV | - | 1/47 |
19-54676763-C-G | TMC4 | c.50G>C | p.Gly17Ala | Missense | 1/15 | - |
4-89741269-G-A | FAM13A | c.29+2858C>T | - | IntronicSNV | - | 1/17 |
1-55524116-C-A | PCSK9 | c.1355-56C>A | - | IntronicSNV | - | 8/11 |
1-55524116-C-G | PCSK9 | c.1355-56C>G | - | IntronicSNV | - | 8/11 |
8-25898565-A-C | EBF2 | c.289-47T>G | - | IntronicSNV | - | 2/15 |
1-55524116-C-T | PCSK9 | c.1355-56C>T | - | IntronicSNV | - | 8/11 |
2-44099582-G-A | ABCG8 | c.1211+137G>A | - | IntronicSNV | - | 8/12 |
2-20921334-A-C | LDAH | c.703+18397T>G | - | IntronicSNV | - | 5/6 |
4-110638764-A-G | PLA2G12A | c.391T>C | p.Cys131Arg | Missense | 3/4 | - |
16-56926195-G-A | SLC12A3 | c.2446+123G>A | - | IntronicSNV | - | 20/25 |
19-45382034-A-G | NECTIN2 | c.*157A>G | - | 3-UTRSNV | 6/6 | - |
11-10669228-T-G | MRVI1 | c.198+4344A>C | - | IntronicSNV | - | 1/19 |
11-10669228-T-C | MRVI1 | c.198+4344A>G | - | IntronicSNV | - | 1/19 |
12-51055708-C-T | DIP2B | c.427+1606C>T | - | IntronicSNV | - | 4/37 |
20-56098733-T-C | CTCFL | c.529A>G | p.Thr177Ala | Missense | 3/12 | - |
14-65914867-A-G | FUT8 | c.-384-7472A>G | - | intron_variant | - | 1/9 |
19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
20-56098733-T-A | CTCFL | c.529A>T | p.Thr177Ser | Missense | 3/12 | - |
19-45370838-G-A | NECTIN2 | c.478+1921G>A | - | IntronicSNV | - | 2/5 |
15-58838010-A-C | LIPC | c.644A>C | p.Asn215Thr | Missense | 5/9 | - |
11-116651115-C-T | ZPR1 | c.1180-562G>A | - | IntronicSNV | - | 12/13 |
17-17425631-C-G | PEMT | c.172G>C | p.Val58Leu | Missense | 3/7 | - |
17-17425631-C-A | PEMT | c.172G>T | p.Val58Phe | Missense | 3/7 | - |
19-11038843-G-C | YIPF2 | c.32-208C>G | - | IntronicSNV | - | 2/9 |
15-58749309-T-C | LIPC | c.88+24990T>C | - | IntronicSNV | - | 1/8 |
16-985891-C-G | LMF1 | c.504-1637G>C | - | IntronicSNV | - | 2/10 |
18-21161134-C-T | NPC1 | c.57+5117G>A | - | IntronicSNV | - | 1/24 |
16-985891-C-T | LMF1 | c.504-1637G>A | - | IntronicSNV | - | 2/10 |
11-116661001-G-A | APOA5 | c.944C>T | p.Ala315Val | Missense | 4/4 | - |
19-10668673-A-G | KRI1 | c.1334T>C | - | missense_variant | 14/19 | - |
12-123775127-G-A | SBNO1 | c.*5328C>T | - | 3-UTRSNV | 32/32 | - |
5-74640490-C-T | HMGCR | c.365+333C>T | - | IntronicSNV | - | 4/19 |
19-45396665-G-T | TOMM40 | c.436-372G>T | - | IntronicSNV | - | 4/9 |
8-116658583-G-T | TRPS1 | c.-122+22189C>A | - | intron_variant | - | 1/6 |
19-46018119-G-A | VASP | c.6-2802G>A | - | IntronicSNV | - | 1/12 |
11-116942366-C-A | SIK3 | c.273+26493G>T | - | intron_variant | - | 1/23 |
15-43820717-C-T | MAP1A | c.7046C>T | p.Pro2349Leu | Missense | 4/6 | - |
6-160560824-G-A | SLC22A1 | c.1201G>A | p.Gly401Ser | Missense | 7/11 | - |
9-107669073-T-C | ABCA1 | c.1-3113A>G | - | IntronicSNV | - | 1/49 |
9-107684230-T-G | ABCA1 | c.-93+5986A>C | - | intron_variant | - | 1/49 |
1-230304988-A-G | GALNT2 | c.127-8976A>G | - | IntronicSNV | - | 1/15 |
15-44246293-C-T | FRMD5 | c.103-29786G>A | - | IntronicSNV | - | 1/13 |
10-114154815-C-T | ACSL5 | c.279C>T | p.Pro93Pro | Synonymous | 2/21 | - |
15-58855748-C-T | LIPC | c.1214C>T | p.Thr405Met | Missense | 8/9 | - |
11-18065663-G-T | TPH1 | c.-27+2125C>A | - | intron_variant | - | 1/10 |
2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
8-19815852-T-C | LPL | c.1019-919T>C | - | IntronicSNV | - | 6/9 |
19-45723379-T-C | EXOC3L2 | c.541-1802A>G | - | IntronicSNV | - | 6/9 |
15-44238869-C-T | FRMD5 | c.103-22362G>A | - | IntronicSNV | - | 1/13 |
19-7224431-G-A | INSR | c.653-39783C>T | - | IntronicSNV | - | 2/21 |
15-58835317-C-T | LIPC | c.574+467C>T | - | IntronicSNV | - | 4/8 |
19-33899065-G-A | PEPD | c.818+3513C>T | - | IntronicSNV | - | 11/14 |
17-41926126-C-T | CD300LG | c.244C>T | p.Arg82Cys | Missense | 2/7 | - |
15-58835317-C-A | LIPC | c.574+467C>A | - | IntronicSNV | - | 4/8 |
19-49232226-G-A | RASIP1 | c.1801C>T | p.Arg601Cys | Missense | 5/12 | - |
1-55551718-G-C | USP24 | c.6669-7C>G | - | IntronicSNV | - | 55/67 |
6-42932715-C-T | PEX6 | c.2667-48G>A | - | IntronicSNV | - | 15/16 |
10-46013277-A-C | MARCH8 | c.102+15281T>G | - | IntronicSNV | - | 2/6 |
15-58263295-C-G | ALDH1A2 | c.736-5270G>C | - | IntronicSNV | - | 8/13 |
15-58751877-T-G | LIPC | c.88+27558T>G | - | IntronicSNV | - | 1/8 |
19-46307406-A-G | RSPH6A | c.1653+104T>C | - | IntronicSNV | - | 3/5 |
19-19579726-A-T | GATAD2A | c.269+3303A>T | - | IntronicSNV | - | 2/11 |
3-36979042-A-G | TRANK1 | c.23+7236T>C | - | IntronicSNV | - | 1/22 |
5-74641560-G-A | HMGCR | c.450+77G>A | - | IntronicSNV | - | 5/19 |
10-46013277-A-T | MARCH8 | c.102+15281T>A | - | IntronicSNV | - | 2/6 |
15-58751877-T-A | LIPC | c.88+27558T>A | - | IntronicSNV | - | 1/8 |
12-109950144-A-G | UBE3B | c.1956+1036A>G | - | IntronicSNV | - | 18/27 |
19-11275842-G-A | KANK2 | c.*1392C>T | - | 3-UTRSNV | 11/11 | - |
1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
2-66671858-C-A | MEIS1 | c.630+1678C>A | - | IntronicSNV | - | 6/12 |
1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
1-184672098-G-A | EDEM3 | c.2236C>T | p.Pro746Ser | Missense | 19/20 | - |
8-10683929-G-C | PINX1 | c.302-175C>G | - | IntronicSNV | - | 4/6 |
8-10683929-G-T | PINX1 | c.302-175C>A | - | IntronicSNV | - | 4/6 |
15-59286102-T-A | RNF111 | c.-20+5835T>A | - | intron_variant | - | 1/13 |
4-73303394-G-A | ADAMTS3 | c.505-22706C>T | - | IntronicSNV | - | 3/21 |
6-139229872-C-T | REPS1 | c.2068G>A | p.Val690Ile | Missense | 17/19 | - |
19-11202306-G-T | LDLR | c.67+2015G>T | - | IntronicSNV | - | 1/17 |
3-172223982-T-C | TNFSF10 | c.*692A>G | - | 3-UTRSNV | 3/3 | - |
1-110198727-C-G | GSTM4 | c.1-285C>G | - | 5-UTRSNV | 1/8 | - |
12-125312425-G-C | SCARB1 | c.127-10172C>G | - | IntronicSNV | - | 1/12 |
21-33087863-A-G | SCAF4 | c.31-9193T>C | - | IntronicSNV | - | 1/19 |
17-27035335-A-G | PROCA1 | c.91+3253T>C | - | IntronicSNV | - | 1/3 |
12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
3-11619958-G-A | VGLL4 | c.255-13465C>T | - | IntronicSNV | - | 3/5 |
11-116921390-T-C | SIK3 | c.273+47469A>G | - | intron_variant | - | 1/23 |
11-116921390-T-A | SIK3 | c.273+47469A>T | - | intron_variant | - | 1/23 |
20-46153148-G-A | NCOA3 | c.-99+22385G>A | - | intron_variant | - | 1/22 |
10-96039597-G-A | PLCE1 | c.4724G>A | p.Arg1575Gln | Missense | 20/33 | - |
10-96039597-G-C | PLCE1 | c.4724G>C | p.Arg1575Pro | Missense | 20/33 | - |
19-11232974-T-G | LDLR | c.2141-876T>G | - | IntronicSNV | - | 14/17 |
19-32917455-T-A | DPY19L3 | c.238-6167T>A | - | IntronicSNV | - | 3/18 |
19-11232974-T-A | LDLR | c.2141-876T>A | - | IntronicSNV | - | 14/17 |
19-45410420-G-A | APOE | c.43+496G>A | - | IntronicSNV | - | 2/3 |
18-21131929-T-A | NPC1 | c.1554-238A>T | - | IntronicSNV | - | 9/24 |
18-21131929-T-C | NPC1 | c.1554-238A>G | - | IntronicSNV | - | 9/24 |
15-58445279-C-T | AQP9 | c.112-13593C>T | - | IntronicSNV | - | 1/5 |
12-125292360-C-A | SCARB1 | c.956G>T | p.Gly319Val | Missense | 7/13 | - |
11-116701354-G-A | APOC3 | c.55+1G>A | - | IntronicSNV | - | 2/3 |