PMID: 28270201

Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome medicine
R Nagy, TS Boutin, J Marten, JE Huffman, SM Kerr, A Campbell, L Evenden, J Gibson, C Amador, DM Howard, P Navarro, A Morris, IJ Deary, LJ Hocking, S Padmanabhan, BH Smith, P Joshi, JF Wilson, ND Hastie, AF Wright, AM McIntosh, DJ Porteous, CS Haley, V Vitart, C Hayward
2017-03-07

1366 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-63099023-T-C DOCK7 c.1116+146A>G - IntronicSNV - 10/48
2-169806021-T-G ABCB11 c.2344-4550A>C - IntronicSNV - 19/27
6-142694049-G-A ADGRG6 c.1069+2119G>A - IntronicSNV - 4/24
2-169797652-T-C ABCB11 c.2610+3463A>G - IntronicSNV - 21/27
1-63009900-A-T DOCK7 c.2767-484T>A - IntronicSNV - 22/48
1-63009900-A-G DOCK7 c.2767-484T>C - IntronicSNV - 22/48
16-57014875-A-G CETP c.1147-195A>G - IntronicSNV - 11/15
16-57014875-A-C CETP c.1147-195A>C - IntronicSNV - 11/15
19-11277232-G-A KANK2 c.*2C>T - 3-UTRSNV 11/11 -
19-11277232-G-T KANK2 c.*2C>A - 3-UTRSNV 11/11 -
16-57017474-G-A CETP c.1408-30G>A - IntronicSNV - 15/15
19-45372794-G-A NECTIN2 c.479-2316G>A - IntronicSNV - 2/5
1-63085997-T-A DOCK7 c.1426-333A>T - IntronicSNV - 12/48
16-53811788-A-G FTO c.46-32264A>G - IntronicSNV - 1/8
2-169797732-T-C ABCB11 c.2610+3383A>G - IntronicSNV - 21/27
20-33983314-T-A UQCC1 c.25-1315A>T - IntronicSNV - 1/9
1-63012056-A-G DOCK7 c.2767-2640T>C - IntronicSNV - 22/48
1-63073975-C-T DOCK7 c.1682+10402G>A - IntronicSNV - 14/48
5-74639178-A-G HMGCR c.166-500A>G - IntronicSNV - 2/19
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
1-62916796-T-C USP1 c.*144T>C - 3-UTRSNV 9/9 -
16-53821413-T-C FTO c.46-22639T>C - IntronicSNV - 1/8
1-63040728-G-A DOCK7 c.2112+2205C>T - IntronicSNV - 18/48
8-19817401-A-G LPL c.1139+510A>G - IntronicSNV - 7/9
2-169817403-C-T ABCB11 c.2179-2765G>A - IntronicSNV - 18/27
5-74651909-G-C HMGCR c.1881-259G>C - IntronicSNV - 14/19
6-126666416-C-T CENPW c.127-935C>T - IntronicSNV - 1/2
5-176821449-A-C SLC34A1 c.1174+253A>C - IntronicSNV - 10/12
8-118185938-A-G SLC30A8 c.*1018A>G - 3-UTRSNV 8/8 -
7-44203912-A-G GCK c.46-10850T>C - IntronicSNV - 1/9
1-62996838-C-T DOCK7 c.3519-1721G>A - IntronicSNV - 28/48
9-107666414-T-G ABCA1 c.1-454A>C - IntronicSNV - 1/49
1-63061906-C-T DOCK7 c.1683-9611G>A - IntronicSNV - 14/48
16-53828066-C-T FTO c.46-15986C>T - IntronicSNV - 1/8
1-62923858-G-A DOCK7 c.6120-482C>T - IntronicSNV - 47/48
7-151413194-T-C PRKAG2 c.467-40471A>G - IntronicSNV - 3/15
2-44063098-G-T ABCG5 c.265+1875C>A - IntronicSNV - 2/12
2-44063098-G-C ABCG5 c.265+1875C>G - IntronicSNV - 2/12
6-142648056-A-T ADGRG6 c.103+17275A>T - IntronicSNV - 2/24
7-151413124-T-C PRKAG2 c.467-40401A>G - IntronicSNV - 3/15
1-155178782-A-T MTX1 c.187A>T p.Thr63Ser Missense 1/7 -
6-160997118-A-T LPA c.4631+1050T>A - IntronicSNV - 28/38
8-19808131-G-T LPL c.250-1149G>T - IntronicSNV - 2/9
16-53798523-G-A FTO c.46-45529G>A - IntronicSNV - 1/8
1-62988972-T-C DOCK7 c.3843+4850A>G - IntronicSNV - 30/48
1-62977307-C-T DOCK7 c.4190-963G>A - IntronicSNV - 32/48
1-62977307-C-A DOCK7 c.4190-963G>T - IntronicSNV - 32/48
19-45376284-C-G NECTIN2 c.775+878C>G - IntronicSNV - 3/5
2-169765737-A-G G6PC2 c.*1148A>G - 3-UTRSNV 5/5 -
19-45183885-C-G CEACAM19 c.706+279C>G - IntronicSNV - 5/7
2-27741072-C-A GCKR c.1423-583C>A - IntronicSNV - 16/18
15-58730498-C-G LIPC c.88+6179C>G - IntronicSNV - 1/8
15-58730498-C-T LIPC c.88+6179C>T - IntronicSNV - 1/8
20-33967523-T-G UQCC1 c.333+2198A>C - IntronicSNV - 4/9
6-160997118-A-G LPA c.4631+1050T>C - IntronicSNV - 28/38
3-170743051-C-T SLC2A2 c.15+1394G>A - IntronicSNV - 1/10
16-53818813-A-G FTO c.46-25239A>G - IntronicSNV - 1/8
20-33956004-A-T UQCC1 c.407-1587T>A - IntronicSNV - 5/9
3-170743051-C-A SLC2A2 c.15+1394G>T - IntronicSNV - 1/10
15-89388905-C-T ACAN c.1221C>T p.Val407Val Synonymous 7/16 -
1-62993620-T-C DOCK7 c.3843+202A>G - IntronicSNV - 30/48
2-169789306-T-C ABCB11 c.3057-263A>G - IntronicSNV - 23/27
20-33924112-C-T UQCC1 c.573+10855G>A - IntronicSNV - 7/9
2-169784940-G-A ABCB11 c.3412-1068C>T - IntronicSNV - 25/27
16-53845487-C-A FTO c.123+1358C>A - IntronicSNV - 2/8
16-53845487-C-G FTO c.123+1358C>G - IntronicSNV - 2/8
16-53822502-T-G FTO c.46-21550T>G - IntronicSNV - 1/8
19-11206530-T-A LDLR c.68-4369T>A - IntronicSNV - 1/17
6-142715195-T-C ADGRG6 c.1340+100T>C - IntronicSNV - 8/24
1-63048277-A-C DOCK7 c.1871+578T>G - IntronicSNV - 16/48
1-62928549-G-A DOCK7 c.6120-5173C>T - IntronicSNV - 47/48
16-56873495-C-T NUP93 c.2199C>T p.Ala733Ala Synonymous 20/22 -
2-169784987-A-G ABCB11 c.3412-1115T>C - IntronicSNV - 25/27
7-44223721-G-A GCK c.45+4787C>T - IntronicSNV - 1/9
1-62996046-C-G DOCK7 c.3519-929G>C - IntronicSNV - 28/48
2-169760082-T-C G6PC2 c.329-933T>C - IntronicSNV - 2/4
1-62996046-C-A DOCK7 c.3519-929G>T - IntronicSNV - 28/48
3-141118028-A-G ZBTB38 c.-106+2683A>G - intron_variant - 6/7
3-141125705-C-G ZBTB38 c.-1+2832C>G - intron_variant - 7/7
3-141118028-A-T ZBTB38 c.-106+2683A>T - intron_variant - 6/7
8-76478768-C-T HNF4G c.*2437C>T - 3-UTRSNV 10/10 -
16-53803187-A-T FTO c.46-40865A>T - IntronicSNV - 1/8
2-169802329-C-A ABCB11 c.2344-858G>T - IntronicSNV - 19/27
16-53821615-A-G FTO c.46-22437A>G - IntronicSNV - 1/8
1-63105253-A-C DOCK7 c.819-2979T>G - IntronicSNV - 7/48
1-63105253-A-G DOCK7 c.819-2979T>C - IntronicSNV - 7/48
16-57009941-T-C CETP c.981+878T>C - IntronicSNV - 10/15
1-62983693-A-C DOCK7 c.3844-4124T>G - IntronicSNV - 30/48
1-62983693-A-G DOCK7 c.3844-4124T>C - IntronicSNV - 30/48
1-63139730-C-G DOCK7 c.39-10929G>C - IntronicSNV - 1/48
19-45357377-T-C NECTIN2 c.88+7507T>C - IntronicSNV - 1/5
19-45357377-T-G NECTIN2 c.88+7507T>G - IntronicSNV - 1/5
20-33948919-A-T UQCC1 c.464+5441T>A - IntronicSNV - 6/9
16-53827962-A-G FTO c.46-16090A>G - IntronicSNV - 1/8
1-62945631-C-T DOCK7 c.5416-2135G>A - IntronicSNV - 42/48
19-11206969-G-A LDLR c.68-3930G>A - IntronicSNV - 1/17
15-89383854-C-A ACAN c.629+437C>A - IntronicSNV - 4/15
5-74642848-A-T HMGCR c.451-181A>T - IntronicSNV - 5/19
5-74689249-T-A COL4A3BP c.1189-3737A>T - IntronicSNV - 11/17
16-53827479-A-G FTO c.46-16573A>G - IntronicSNV - 1/8
2-169801905-T-A ABCB11 c.2344-434A>T - IntronicSNV - 19/27
1-63139730-C-T DOCK7 c.39-10929G>A - IntronicSNV - 1/48
5-76742615-G-C WDR41 c.697+2970C>G - IntronicSNV - 8/12
20-33987298-T-C UQCC1 c.25-5299A>G - IntronicSNV - 1/9
1-63094692-A-G DOCK7 c.1282+2219T>C - IntronicSNV - 11/48
20-33987298-T-A UQCC1 c.25-5299A>T - IntronicSNV - 1/9
1-62911751-A-T USP1 c.1249+651A>T - IntronicSNV - 6/8
2-169792188-C-G ABCB11 c.2815-253G>C - IntronicSNV - 22/27
1-62999675-C-G DOCK7 c.3518+1489G>C - IntronicSNV - 28/48
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
1-62911751-A-C USP1 c.1249+651A>C - IntronicSNV - 6/8
1-62911751-A-G USP1 c.1249+651A>G - IntronicSNV - 6/8
16-56972713-G-A HERPUD1 c.429-436G>A - IntronicSNV - 4/7
1-63006595-A-T DOCK7 c.2953-1032T>A - IntronicSNV - 24/48
11-65560620-C-T OVOL1 c.101-882C>T - IntronicSNV - 1/3
2-169744551-A-G SPC25 c.199+1185T>C - IntronicSNV - 3/6
2-169797927-A-G ABCB11 c.2610+3188T>C - IntronicSNV - 21/27
15-58741134-A-T LIPC c.88+16815A>T - IntronicSNV - 1/8
16-53810943-C-T FTO c.46-33109C>T - IntronicSNV - 1/8
16-56802246-T-G NUP93 c.297+9679T>G - IntronicSNV - 3/21
16-56802246-T-C NUP93 c.297+9679T>C - IntronicSNV - 3/21
1-63113511-C-A DOCK7 c.733-64G>T - IntronicSNV - 6/48
1-63006842-A-T DOCK7 c.2953-1279T>A - IntronicSNV - 24/48
20-33894091-A-G UQCC1 c.765+378T>C - IntronicSNV - 9/9
1-63113719-T-C DOCK7 c.732+58A>G - IntronicSNV - 6/48
20-33971914-C-T UQCC1 c.152G>A p.Arg51Gln Missense 3/10 -
18-46837578-G-T DYM c.763+20656C>A - IntronicSNV - 8/16
16-53820996-C-G FTO c.46-23056C>G - IntronicSNV - 1/8
16-53820996-C-A FTO c.46-23056C>A - IntronicSNV - 1/8
18-46888639-G-C DYM c.494+892C>G - IntronicSNV - 6/16
16-53814363-G-T FTO c.46-29689G>T - IntronicSNV - 1/8
2-27734972-G-A GCKR c.1422+3854G>A - IntronicSNV - 16/18
2-169794983-G-A ABCB11 c.2611-2040C>T - IntronicSNV - 21/27
5-74910870-A-G ANKDD1B c.194-1759A>G - IntronicSNV - 1/13
1-63106767-C-A DOCK7 c.819-4493G>T - IntronicSNV - 7/48
16-53799905-A-G FTO c.46-44147A>G - IntronicSNV - 1/8
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
16-67690688-C-T CARMIL2 c.4037-16C>T - IntronicSNV - 35/37
1-63074442-C-A DOCK7 c.1682+9935G>T - IntronicSNV - 14/48
16-67690688-C-A CARMIL2 c.4037-16C>A - IntronicSNV - 35/37
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
1-63055470-G-A DOCK7 c.1683-3175C>T - IntronicSNV - 14/48
2-169803939-G-T ABCB11 c.2344-2468C>A - IntronicSNV - 19/27
3-141091595-T-A ZBTB38 c.-480+2807T>A - intron_variant - 3/7
2-169797732-T-A ABCB11 c.2610+3383A>T - IntronicSNV - 21/27
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
1-63006087-C-A DOCK7 c.2953-524G>T - IntronicSNV - 24/48
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
2-169780885-T-C ABCB11 c.3765+282A>G - IntronicSNV - 27/27
1-63018170-T-G DOCK7 c.2766+233A>C - IntronicSNV - 22/48
1-63018170-T-C DOCK7 c.2766+233A>G - IntronicSNV - 22/48
8-19819536-T-G LPL c.1323-90T>G - IntronicSNV - 8/9
11-66899619-A-G KDM2A c.42+10790A>G - IntronicSNV - 2/20
5-176821375-C-T SLC34A1 c.1174+179C>T - IntronicSNV - 10/12
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
8-19816238-A-C LPL c.1019-533A>C - IntronicSNV - 6/9
1-63012107-C-G DOCK7 c.2767-2691G>C - IntronicSNV - 22/48
1-63012107-C-T DOCK7 c.2767-2691G>A - IntronicSNV - 22/48
19-45175069-G-C CEACAM19 c.1-135G>C - 5-UTRSNV 1/8 -
11-66988048-C-A KDM2A c.957+1174C>A - IntronicSNV - 10/20
3-141114293-A-G ZBTB38 c.-350-808A>G - intron_variant - 5/7
3-141130835-C-A ZBTB38 c.-1+7962C>A - intron_variant - 7/7
15-89391581-C-A ACAN c.1732+312C>A - IntronicSNV - 9/15
15-58741134-A-C LIPC c.88+16815A>C - IntronicSNV - 1/8
16-57002663-C-A CETP c.234-635C>A - IntronicSNV - 2/15
8-19811901-T-C LPL c.775+37T>C - IntronicSNV - 5/9
20-33960450-T-A UQCC1 c.406+1537A>T - IntronicSNV - 5/9
20-33960450-T-C UQCC1 c.406+1537A>G - IntronicSNV - 5/9
6-142699948-A-C ADGRG6 c.1070-3140A>C - IntronicSNV - 4/24
2-169782869-T-C ABCB11 c.3618+797A>G - IntronicSNV - 26/27
16-53821862-C-T FTO c.46-22190C>T - IntronicSNV - 1/8
2-169813353-C-T ABCB11 c.2343+1121G>A - IntronicSNV - 19/27
7-44204426-C-T GCK c.46-11364G>A - IntronicSNV - 1/9
20-33954913-C-A UQCC1 c.407-496G>T - IntronicSNV - 5/9
3-141130835-C-T ZBTB38 c.-1+7962C>T - intron_variant - 7/7
16-53822183-C-T FTO c.46-21869C>T - IntronicSNV - 1/8
2-169792171-C-T ABCB11 c.2815-236G>A - IntronicSNV - 22/27
8-19819077-T-G LPL c.1322+483T>G - IntronicSNV - 8/9
6-142734204-T-C ADGRG6 c.2457+1656T>C - IntronicSNV - 17/24
5-74637711-A-T HMGCR c.1-720A>T - IntronicSNV - 1/19
2-169764491-T-C G6PC2 c.970T>C p.Ser324Pro Missense 5/5 -
16-56873789-T-C NUP93 c.2220+273T>C - IntronicSNV - 20/21
5-74773420-T-C COL4A3BP c.232-18414A>G - IntronicSNV - 2/17
19-45395844-G-A TOMM40 c.342+127G>A - IntronicSNV - 3/9
16-53831146-C-T FTO c.46-12906C>T - IntronicSNV - 1/8
5-74773420-T-A COL4A3BP c.232-18414A>T - IntronicSNV - 2/17
3-141110074-A-G ZBTB38 c.-351+4295A>G - intron_variant - 5/7
6-142664439-T-A ADGRG6 c.104-24267T>A - IntronicSNV - 2/24
2-169764176-G-C G6PC2 c.655G>C p.Val219Leu Missense 5/5 -
16-56884081-G-C NUP93 c.*5560G>C - IntergenicSNV 22/22 -
16-56909598-C-T SLC12A3 c.1096-2391C>T - IntronicSNV - 8/25
1-63046578-C-A DOCK7 c.1872-1941G>T - IntronicSNV - 16/48
16-53815435-T-C FTO c.46-28617T>C - IntronicSNV - 1/8
7-44223942-G-A GCK c.45+4566C>T - IntronicSNV - 1/9
7-44205906-A-C GCK c.46-12844T>G - IntronicSNV - 1/9
16-57003146-T-C CETP c.234-152T>C - IntronicSNV - 2/15
2-169703974-G-A NOSTRIN c.397-3620G>A - IntronicSNV - 7/14
19-45253491-C-G BCL3 c.257-993C>G - IntronicSNV - 1/8
4-17994298-T-C LCORL c.155-19790A>G - IntronicSNV - 1/6
6-142716286-G-T ADGRG6 c.1340+1191G>T - IntronicSNV - 8/24
1-63121294-G-A DOCK7 c.145-1464C>T - IntronicSNV - 2/48
2-169806321-A-G ABCB11 c.2344-4850T>C - IntronicSNV - 19/27
7-44203006-C-T GCK c.46-9944G>A - IntronicSNV - 1/9
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 -
20-33972899-A-C UQCC1 c.130-963T>G - IntronicSNV - 2/9
1-63010110-G-C DOCK7 c.2767-694C>G - IntronicSNV - 22/48
1-62970184-T-A DOCK7 c.4671+117A>T - IntronicSNV - 36/48
16-56855192-C-T NUP93 c.565-224C>T - IntronicSNV - 6/21
20-33995780-A-G UQCC1 c.24+3963T>C - IntronicSNV - 1/9
16-57002732-T-G CETP c.234-566T>G - IntronicSNV - 2/15
19-53599256-A-T ZNF160 c.-129-4283T>A - intron_variant - 1/5
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
1-62987289-T-C DOCK7 c.3843+6533A>G - IntronicSNV - 30/48
8-19820916-C-T LPL c.1427+1186C>T - IntronicSNV - 9/9
3-141147414-T-C ZBTB38 c.1-13817T>C - IntronicSNV - 7/7
8-19811897-C-G LPL c.775+33C>G - IntronicSNV - 5/9
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
5-74759183-T-A COL4A3BP c.232-4177A>T - IntronicSNV - 2/17
3-141142691-G-A ZBTB38 c.1-18540G>A - IntronicSNV - 7/7
1-62903363-C-G USP1 c.-70+1130C>G - intron_variant - 1/8
16-56975277-A-G HERPUD1 c.903-767A>G - IntronicSNV - 6/7
16-53799977-T-G FTO c.46-44075T>G - IntronicSNV - 1/8
16-53799977-T-C FTO c.46-44075T>C - IntronicSNV - 1/8
19-45373565-G-A NECTIN2 c.479-1545G>A - IntronicSNV - 2/5
8-19824667-C-T LPL c.*1846C>T - 3-UTRSNV 10/10 -
6-161005610-C-T LPA c.4289+468G>A - IntronicSNV - 26/38
5-74759183-T-C COL4A3BP c.232-4177A>G - IntronicSNV - 2/17
20-33942263-A-G UQCC1 c.465-7188T>C - IntronicSNV - 6/9
3-141093285-T-C ZBTB38 c.-480+4497T>C - intron_variant - 3/7
8-4102424-A-G CSMD1 c.415+175051T>C - IntronicSNV - 3/69
20-33896757-G-C UQCC1 c.652-2175C>G - IntronicSNV - 8/9
2-169784493-A-G ABCB11 c.3412-621T>C - IntronicSNV - 25/27
2-169764546-C-G G6PC2 c.1025C>G p.Ser342Cys Missense 5/5 -
16-57000885-G-A CETP c.234-2413G>A - IntronicSNV - 2/15
16-56908703-C-T SLC12A3 c.1095+2005C>T - IntronicSNV - 8/25
6-142702234-A-G ADGRG6 c.1070-854A>G - IntronicSNV - 4/24
7-44247258-C-T YKT6 c.393+167C>T - IntronicSNV - 4/6
2-44086591-G-A ABCG8 c.964+6584G>A - IntronicSNV - 6/12
1-62963914-G-C DOCK7 c.4672-1746C>G - IntronicSNV - 36/48
8-19817361-T-G LPL c.1139+470T>G - IntronicSNV - 7/9
6-142755024-C-T ADGRG6 c.3236-3547C>T - IntronicSNV - 21/24
16-56948292-A-G SLC12A3 c.*975A>G - 3-UTRSNV 26/26 -
16-57005301-C-T CETP c.658+8C>T - IntronicSNV - 7/15
3-141092050-G-T ZBTB38 c.-480+3262G>T - intron_variant - 3/7
19-45361646-A-G NECTIN2 c.89-6882A>G - IntronicSNV - 1/5
13-28496119-T-C PDX1 c.406+1438T>C - IntronicSNV - 1/1
2-169813396-G-A ABCB11 c.2343+1078C>T - IntronicSNV - 19/27
1-62930224-G-A DOCK7 c.6120-6848C>T - IntronicSNV - 47/48
16-53819198-G-A FTO c.46-24854G>A - IntronicSNV - 1/8
19-11207982-T-C LDLR c.68-2917T>C - IntronicSNV - 1/17
16-53819367-G-A FTO c.46-24685G>A - IntronicSNV - 1/8
2-21244000-G-T APOB c.2817-1223C>A - IntronicSNV - 18/28
1-63005950-T-C DOCK7 c.2953-387A>G - IntronicSNV - 24/48
16-53819198-G-C FTO c.46-24854G>C - IntronicSNV - 1/8
16-53800200-C-T FTO c.46-43852C>T - IntronicSNV - 1/8
16-56876845-T-G NUP93 c.2349+1100T>G - IntronicSNV - 21/21
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
16-67253519-T-C LRRC29 c.-135+4210A>G - intron_variant - 2/6
19-11205975-G-A LDLR c.68-4924G>A - IntronicSNV - 1/17
19-11205975-G-C LDLR c.68-4924G>C - IntronicSNV - 1/17
1-155151493-C-T TRIM46 c.1285+404C>T - IntronicSNV - 7/9
13-28496419-G-C PDX1 c.406+1738G>C - IntronicSNV - 1/1
6-26184102-G-A HIST1H2BE c.79G>A p.Gly27Ser Missense 1/1 -
1-63124465-T-G DOCK7 c.144+4231A>C - IntronicSNV - 2/48
19-45319631-G-A BCAM c.1078+1614G>A - IntronicSNV - 8/14
19-45182423-C-G CEACAM19 c.659+215C>G - IntronicSNV - 4/7
19-45182423-C-T CEACAM19 c.659+215C>T - IntronicSNV - 4/7
16-53801343-C-T FTO c.46-42709C>T - IntronicSNV - 1/8
15-99271135-A-G IGF1R c.640+19799A>G - IntronicSNV - 2/20
16-53801343-C-A FTO c.46-42709C>A - IntronicSNV - 1/8
16-53822142-C-T FTO c.46-21910C>T - IntronicSNV - 1/8
4-9994215-C-T SLC2A9 c.323+4190G>A - IntronicSNV - 4/12
16-53806280-C-G FTO c.46-37772C>G - IntronicSNV - 1/8
9-107666513-T-G ABCA1 c.1-553A>C - IntronicSNV - 1/49
16-53822651-A-T FTO c.46-21401A>T - IntronicSNV - 1/8
16-53801985-C-T FTO c.46-42067C>T - IntronicSNV - 1/8
16-53822142-C-A FTO c.46-21910C>A - IntronicSNV - 1/8
16-53822651-A-G FTO c.46-21401A>G - IntronicSNV - 1/8
16-72140553-G-A DHX38 c.2600+537G>A - IntronicSNV - 19/26
14-23866713-A-G MYH6 c.1962+39T>C - IntronicSNV - 16/38
16-56974791-A-G HERPUD1 c.902+634A>G - IntronicSNV - 6/7
20-33927006-A-C UQCC1 c.573+7961T>G - IntronicSNV - 7/9
19-45296364-G-A CBLC c.1138-367G>A - IntronicSNV - 7/10
6-142760962-T-G ADGRG6 c.3491-1083T>G - IntronicSNV - 23/24
6-142742659-T-A ADGRG6 c.3235+1418T>A - IntronicSNV - 21/24
1-62904575-T-A USP1 c.1-964T>A - IntronicSNV - 1/8
1-62904575-T-G USP1 c.1-964T>G - IntronicSNV - 1/8
2-169796288-T-A ABCB11 c.2611-3345A>T - IntronicSNV - 21/27
7-151411494-G-A PRKAG2 c.467-38771C>T - IntronicSNV - 3/15
2-169796288-T-C ABCB11 c.2611-3345A>G - IntronicSNV - 21/27
7-151411494-G-T PRKAG2 c.467-38771C>A - IntronicSNV - 3/15
6-142669338-A-G ADGRG6 c.104-19368A>G - IntronicSNV - 2/24
13-28495193-G-T PDX1 c.406+512G>T - IntronicSNV - 1/1
1-62955862-C-T DOCK7 c.5269-1126G>A - IntronicSNV - 40/48
1-63019919-G-A DOCK7 c.2597-1347C>T - IntronicSNV - 21/48
2-169796285-A-G ABCB11 c.2611-3342T>C - IntronicSNV - 21/27
5-74653462-T-G HMGCR c.1987-1020T>G - IntronicSNV - 15/19
16-53823727-T-C FTO c.46-20325T>C - IntronicSNV - 1/8
1-62983751-C-A DOCK7 c.3844-4182G>T - IntronicSNV - 30/48
20-33980860-T-C UQCC1 c.129+1035A>G - IntronicSNV - 2/9
16-56906006-C-T SLC12A3 c.853-257C>T - IntronicSNV - 6/25
2-169806738-G-A ABCB11 c.2344-5267C>T - IntronicSNV - 19/27
5-176815880-G-A SLC34A1 c.936+507G>A - IntronicSNV - 8/12
1-63033941-T-A DOCK7 c.2113-6567A>T - IntronicSNV - 18/48
1-63049551-A-G DOCK7 c.1801-626T>C - IntronicSNV - 15/48
1-63049551-A-C DOCK7 c.1801-626T>G - IntronicSNV - 15/48
19-11207777-C-T LDLR c.68-3122C>T - IntronicSNV - 1/17
16-57001985-A-C CETP c.234-1313A>C - IntronicSNV - 2/15
16-57001985-A-T CETP c.234-1313A>T - IntronicSNV - 2/15
1-63084030-G-A DOCK7 c.1682+347C>T - IntronicSNV - 14/48
1-63033941-T-C DOCK7 c.2113-6567A>G - IntronicSNV - 18/48
1-63012071-A-C DOCK7 c.2767-2655T>G - IntronicSNV - 22/48
1-62904936-G-A USP1 c.1-603G>A - IntronicSNV - 1/8
1-62904936-G-C USP1 c.1-603G>C - IntronicSNV - 1/8
3-141094769-C-T ZBTB38 c.-479-5498C>T - intron_variant - 3/7
12-57844049-C-T INHBC c.*244C>T - 3-UTRSNV 2/2 -
16-53812614-G-A FTO c.46-31438G>A - IntronicSNV - 1/8
16-53804965-T-C FTO c.46-39087T>C - IntronicSNV - 1/8
16-53804965-T-A FTO c.46-39087T>A - IntronicSNV - 1/8
20-33995945-T-C UQCC1 c.24+3798A>G - IntronicSNV - 1/9
16-56834234-G-A NUP93 c.360+1784G>A - IntronicSNV - 4/21
16-56863229-T-A NUP93 c.927+208T>A - IntronicSNV - 9/21
20-33934301-T-C UQCC1 c.573+666A>G - IntronicSNV - 7/9
19-11206729-T-G LDLR c.68-4170T>G - IntronicSNV - 1/17
2-169787686-C-T ABCB11 c.3214-314G>A - IntronicSNV - 24/27
20-33995945-T-A UQCC1 c.24+3798A>T - IntronicSNV - 1/9
2-169789492-G-A ABCB11 c.3057-449C>T - IntronicSNV - 23/27
1-63078222-A-T DOCK7 c.1682+6155T>A - IntronicSNV - 14/48
2-169765377-A-T G6PC2 c.*788A>T - 3-UTRSNV 5/5 -
2-169738539-T-C SPC25 c.200-4645A>G - IntronicSNV - 3/6
20-33937704-G-A UQCC1 c.465-2629C>T - IntronicSNV - 6/9
6-142651052-G-A ADGRG6 c.103+20271G>A - IntronicSNV - 2/24
20-33934437-T-A UQCC1 c.573+530A>T - IntronicSNV - 7/9
20-33924130-C-G UQCC1 c.573+10837G>C - IntronicSNV - 7/9
19-11206729-T-C LDLR c.68-4170T>C - IntronicSNV - 1/17
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
1-62974150-A-T DOCK7 c.4287-421T>A - IntronicSNV - 33/48
6-142667380-C-T ADGRG6 c.104-21326C>T - IntronicSNV - 2/24
19-45318351-A-G BCAM c.1078+334A>G - IntronicSNV - 8/14
1-63020816-C-A DOCK7 c.2596+680G>T - IntronicSNV - 21/48
20-33907909-T-C UQCC1 c.574-5341A>G - IntronicSNV - 7/9
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
3-170735099-G-A SLC2A2 c.108+1221C>T - IntronicSNV - 2/10
16-53840525-C-T FTO c.46-3527C>T - IntronicSNV - 1/8
2-169782149-A-G ABCB11 c.3619-836T>C - IntronicSNV - 26/27
15-58724842-G-A LIPC c.88+523G>A - IntronicSNV - 1/8
1-62940097-G-A DOCK7 c.6013-338C>T - IntronicSNV - 46/48
16-57006829-T-G CETP c.751-414T>G - IntronicSNV - 8/15
2-169759598-C-A G6PC2 c.328+534C>A - IntronicSNV - 2/4
1-63075826-G-A DOCK7 c.1682+8551C>T - IntronicSNV - 14/48
3-141125439-T-C ZBTB38 c.-1+2566T>C - intron_variant - 7/7
2-169706079-T-C NOSTRIN c.397-1515T>C - IntronicSNV - 7/14
2-44084600-A-G ABCG8 c.964+4593A>G - IntronicSNV - 6/12
11-117220429-A-C CEP164 c.195-2077A>C - IntronicSNV - 4/32
16-56999328-C-T CETP c.233+2292C>T - IntronicSNV - 2/15
3-141139330-G-A ZBTB38 c.-1+16457G>A - intron_variant - 7/7
8-19815256-A-T LPL c.1019-1515A>T - IntronicSNV - 6/9
16-53803156-G-A FTO c.46-40896G>A - IntronicSNV - 1/8
16-57010232-C-T CETP c.981+1169C>T - IntronicSNV - 10/15
2-148716428-T-A ORC4 c.233A>T p.Asn78Ile Missense 5/14 -
1-63007721-A-T DOCK7 c.2952+558T>A - IntronicSNV - 24/48
2-148716428-T-C ORC4 c.233A>G p.Asn78Ser Missense 5/14 -
1-63101123-G-C DOCK7 c.886-530C>G - IntronicSNV - 8/48
1-63101123-G-A DOCK7 c.886-530C>T - IntronicSNV - 8/48
3-141085972-T-C ZBTB38 c.-738-1491T>C - intron_variant - 1/7
2-148716428-T-G ORC4 c.233A>C p.Asn78Thr Missense 5/14 -
3-141073675-G-A ZBTB38 c.-738-13788G>A - intron_variant - 1/7
2-169812217-T-A ABCB11 c.2343+2257A>T - IntronicSNV - 19/27
2-169812217-T-C ABCB11 c.2343+2257A>G - IntronicSNV - 19/27
3-141087623-T-C ZBTB38 c.-578T>C - 5_prime_UTR_variant 2/8 -
1-62923863-C-T DOCK7 c.6120-487G>A - IntronicSNV - 47/48
1-63042738-A-G DOCK7 c.2112+195T>C - IntronicSNV - 18/48
19-11206530-T-C LDLR c.68-4369T>C - IntronicSNV - 1/17
19-11209764-C-T LDLR c.68-1135C>T - IntronicSNV - 1/17
1-62991905-T-C DOCK7 c.3843+1917A>G - IntronicSNV - 30/48
6-142655801-T-G ADGRG6 c.103+25020T>G - IntronicSNV - 2/24
1-234420503-G-A SLC35F3 c.609-24344G>A - IntronicSNV - 3/7
16-53834608-G-A FTO c.46-9444G>A - IntronicSNV - 1/8
3-141155857-A-G ZBTB38 c.1-5374A>G - IntronicSNV - 3/7
6-142717303-A-G ADGRG6 c.1341-1447A>G - IntronicSNV - 8/24
2-169785449-A-C ABCB11 c.3412-1577T>G - IntronicSNV - 25/27
16-53822387-C-T FTO c.46-21665C>T - IntronicSNV - 1/8
6-142717303-A-T ADGRG6 c.1341-1447A>T - IntronicSNV - 8/24
16-53842908-G-A FTO c.46-1144G>A - IntronicSNV - 1/8
20-33907909-T-A UQCC1 c.574-5341A>T - IntronicSNV - 7/9
2-169803674-C-T ABCB11 c.2344-2203G>A - IntronicSNV - 19/27
2-169802310-G-A ABCB11 c.2344-839C>T - IntronicSNV - 19/27
16-57014319-A-G CETP c.1147-751A>G - IntronicSNV - 11/15
16-53834607-T-C FTO c.46-9445T>C - IntronicSNV - 1/8
2-169795467-A-G ABCB11 c.2611-2524T>C - IntronicSNV - 21/27
16-53800629-C-G FTO c.46-43423C>G - IntronicSNV - 1/8
8-19797916-G-T LPL c.88+877G>T - IntronicSNV - 1/9
16-57009376-T-A CETP c.981+313T>A - IntronicSNV - 10/15
16-53830867-T-C FTO c.46-13185T>C - IntronicSNV - 1/8
16-53830867-T-A FTO c.46-13185T>A - IntronicSNV - 1/8
7-44209322-G-A GCK c.46-16260C>T - IntronicSNV - 1/9
14-23865885-G-C MYH6 c.2292+18C>G - IntronicSNV - 19/38
19-11210314-G-A LDLR c.68-585G>A - IntronicSNV - 1/17
1-62950858-C-T DOCK7 c.5415+2211G>A - IntronicSNV - 42/48
7-44259706-G-A CAMK2B c.1305C>T p.Asn435Asn Synonymous 15/16 -
19-11209576-G-C LDLR c.68-1323G>C - IntronicSNV - 1/17
1-63112320-C-A DOCK7 c.818+1042G>T - IntronicSNV - 7/48
19-11209576-G-A LDLR c.68-1323G>A - IntronicSNV - 1/17
3-141094769-C-A ZBTB38 c.-479-5498C>A - intron_variant - 3/7
2-169801628-A-C ABCB11 c.2344-157T>G - IntronicSNV - 19/27
20-33914208-A-G UQCC1 c.574-11640T>C - IntronicSNV - 7/9
5-176819252-C-T SLC34A1 c.937-1443C>T - IntronicSNV - 8/12
20-33952620-G-A UQCC1 c.464+1740C>T - IntronicSNV - 6/9
8-19819077-T-A LPL c.1322+483T>A - IntronicSNV - 8/9
19-45176340-T-C CEACAM19 c.424+104T>C - IntronicSNV - 2/7
16-56997551-C-T CETP c.233+515C>T - IntronicSNV - 2/15
5-176815124-T-C SLC34A1 c.774T>C p.His258His Synonymous 7/13 -
20-33907909-T-G UQCC1 c.574-5341A>C - IntronicSNV - 7/9
3-141101961-C-T ZBTB38 c.-417+1632C>T - intron_variant - 4/7
4-9944052-A-G SLC2A9 c.595-383T>C - IntronicSNV - 6/12
2-169812125-G-A ABCB11 c.2343+2349C>T - IntronicSNV - 19/27
15-58724792-T-A LIPC c.88+473T>A - IntronicSNV - 1/8
6-126664333-C-A CENPW c.126+2788C>A - IntronicSNV - 1/2
6-126664333-C-T CENPW c.126+2788C>T - IntronicSNV - 1/2
5-74640490-C-T HMGCR c.365+333C>T - IntronicSNV - 4/19
8-19797916-G-C LPL c.88+877G>C - IntronicSNV - 1/9
14-23865885-G-A MYH6 c.2292+18C>T - IntronicSNV - 19/38
1-63098235-G-A DOCK7 c.1116+934C>T - IntronicSNV - 10/48
3-141142691-G-T ZBTB38 c.1-18540G>T - IntronicSNV - 7/7
20-33973315-T-G UQCC1 c.130-1379A>C - IntronicSNV - 2/9
20-33973315-T-A UQCC1 c.130-1379A>T - IntronicSNV - 2/9
2-169813371-G-A ABCB11 c.2343+1103C>T - IntronicSNV - 19/27
15-58741384-C-G LIPC c.88+17065C>G - IntronicSNV - 1/8
1-62904295-C-T USP1 c.1-1244C>T - IntronicSNV - 1/8
20-34023962-G-A GDF5 c.631+1116C>T - IntronicSNV - 1/1
1-63056670-G-A DOCK7 c.1683-4375C>T - IntronicSNV - 14/48
2-44073656-T-C ABCG8 c.322+206T>C - IntronicSNV - 3/12
7-44248828-G-A YKT6 c.459+1031G>A - IntronicSNV - 5/6
7-44248828-G-C YKT6 c.459+1031G>C - IntronicSNV - 5/6
8-19813667-T-G LPL c.1018+73T>G - IntronicSNV - 6/9
19-11265020-G-A SPC24 c.160+1273C>T - IntronicSNV - 1/4
18-46754064-G-T DYM c.1460+29316C>A - IntronicSNV - 13/16
6-142691549-A-C ADGRG6 c.688A>C p.Lys230Gln Missense 4/25 -
7-151406220-A-G PRKAG2 c.467-33497T>C - IntronicSNV - 3/15
2-169816936-G-A ABCB11 c.2179-2298C>T - IntronicSNV - 18/27
16-56834254-C-G NUP93 c.360+1804C>G - IntronicSNV - 4/21
1-63099023-T-A DOCK7 c.1116+146A>T - IntronicSNV - 10/48
1-62977419-G-A DOCK7 c.4190-1075C>T - IntronicSNV - 32/48
19-45672478-G-A TRAPPC6A c.127-4026C>T - IntronicSNV - 1/5
1-62926057-A-T DOCK7 c.6120-2681T>A - IntronicSNV - 47/48
16-56852822-G-T NUP93 c.564+172G>T - IntronicSNV - 6/21
5-74816944-C-T POLK c.-14+9205C>T - intron_variant - 1/14
8-62481520-A-G ASPH c.1150-1643T>C - IntronicSNV - 16/24
19-11262969-G-T SPC24 c.161-3055C>A - IntronicSNV - 1/4
2-169608348-T-G CERS6 c.846-13754T>G - IntronicSNV - 8/9
2-169802252-G-T ABCB11 c.2344-781C>A - IntronicSNV - 19/27
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
16-56863229-T-C NUP93 c.927+208T>C - IntronicSNV - 9/21
16-53819169-T-C FTO c.46-24883T>C - IntronicSNV - 1/8
16-53810686-T-C FTO c.46-33366T>C - IntronicSNV - 1/8
20-33936338-G-A UQCC1 c.465-1263C>T - IntronicSNV - 6/9
6-142750516-A-G ADGRG6 c.3236-8055A>G - IntronicSNV - 21/24
16-53813450-A-T FTO c.46-30602A>T - IntronicSNV - 1/8
19-45357003-C-G NECTIN2 c.88+7133C>G - IntronicSNV - 1/5
2-169721381-A-G NOSTRIN c.1188A>G p.Gly396Gly Synonymous 15/15 -
5-74909972-C-T ANKDD1B c.193+2320C>T - IntronicSNV - 1/13
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
15-58731567-A-G LIPC c.88+7248A>G - IntronicSNV - 1/8
6-142713842-G-A ADGRG6 c.1225-243G>A - IntronicSNV - 6/24
5-74909972-C-G ANKDD1B c.193+2320C>G - IntronicSNV - 1/13
5-176824137-C-G SLC34A1 c.1416+62C>G - IntronicSNV - 12/12
20-33966260-T-C UQCC1 c.333+3461A>G - IntronicSNV - 4/9
5-176824137-C-T SLC34A1 c.1416+62C>T - IntronicSNV - 12/12
16-56873840-G-A NUP93 c.2220+324G>A - IntronicSNV - 20/21
16-56996211-G-A CETP c.118+202G>A - IntronicSNV - 1/15
3-141109321-A-G ZBTB38 c.-351+3542A>G - intron_variant - 5/7
1-62954971-T-C DOCK7 c.5269-235A>G - IntronicSNV - 40/48
20-34022387-A-T GDF5 c.826T>A p.Ser276Thr Missense 2/2 -
19-45356141-C-T NECTIN2 c.88+6271C>T - IntronicSNV - 1/5
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-62927797-T-G DOCK7 c.6120-4421A>C - IntronicSNV - 47/48
20-34022387-A-C GDF5 c.826T>G p.Ser276Ala Missense 2/2 -
3-170724883-T-C SLC2A2 c.612+54A>G - IntronicSNV - 5/10
1-109817245-C-T CELSR2 c.*574C>T - 3-UTRSNV 34/34 -
15-58741884-T-A LIPC c.88+17565T>A - IntronicSNV - 1/8
15-58741884-T-C LIPC c.88+17565T>C - IntronicSNV - 1/8
1-109817245-C-G CELSR2 c.*574C>G - 3-UTRSNV 34/34 -
20-33912180-A-C UQCC1 c.574-9612T>G - IntronicSNV - 7/9
8-19820405-G-A LPL c.1427+675G>A - IntronicSNV - 9/9
8-19818042-G-A LPL c.1140-370G>A - IntronicSNV - 7/9
2-169781530-A-T ABCB11 c.3619-217T>A - IntronicSNV - 26/27
16-56856955-G-A NUP93 c.655-664G>A - IntronicSNV - 7/21
19-45351891-A-G NECTIN2 c.88+2021A>G - IntronicSNV - 1/5
5-176814656-G-A SLC34A1 c.533-107G>A - IntronicSNV - 5/12
20-33968067-T-C UQCC1 c.333+1654A>G - IntronicSNV - 4/9
1-62926371-A-G DOCK7 c.6120-2995T>C - IntronicSNV - 47/48
1-62968491-C-T DOCK7 c.4671+1810G>A - IntronicSNV - 36/48
1-62968491-C-G DOCK7 c.4671+1810G>C - IntronicSNV - 36/48
1-62922660-G-A DOCK7 c.6287+549C>T - IntronicSNV - 48/48
16-57017319-G-A CETP c.1403G>A p.Arg468Gln Missense 15/16 -
20-33959315-T-C UQCC1 c.406+2672A>G - IntronicSNV - 5/9
20-33959315-T-A UQCC1 c.406+2672A>T - IntronicSNV - 5/9
16-56900100-A-G SLC12A3 c.282+671A>G - IntronicSNV - 1/25
19-11212470-T-A LDLR c.191-870T>A - IntronicSNV - 2/17
20-33986271-T-C UQCC1 c.25-4272A>G - IntronicSNV - 1/9
16-56865374-G-A NUP93 c.1086-380G>A - IntronicSNV - 10/21
20-36842883-A-G KIAA1755 c.2902-738T>C - IntronicSNV - 13/13
3-170727351-G-A SLC2A2 c.496+396C>T - IntronicSNV - 4/10
20-33913322-G-T UQCC1 c.574-10754C>A - IntronicSNV - 7/9
20-33913322-G-A UQCC1 c.574-10754C>T - IntronicSNV - 7/9
6-142661156-G-T ADGRG6 c.104-27550G>T - IntronicSNV - 2/24
16-57000938-G-A CETP c.234-2360G>A - IntronicSNV - 2/15
3-170734377-T-C SLC2A2 c.109-1857A>G - IntronicSNV - 2/10
14-23864804-T-C MYH6 c.2429+689A>G - IntronicSNV - 20/38
5-176817636-A-G SLC34A1 c.936+2263A>G - IntronicSNV - 8/12
2-169816936-G-C ABCB11 c.2179-2298C>G - IntronicSNV - 18/27
1-62912120-C-G USP1 c.1250-892C>G - IntronicSNV - 6/8
16-53826028-T-A FTO c.46-18024T>A - IntronicSNV - 1/8
1-62988972-T-A DOCK7 c.3843+4850A>T - IntronicSNV - 30/48
1-63090858-C-T DOCK7 c.1425+72G>A - IntronicSNV - 12/48
6-142753338-G-A ADGRG6 c.3236-5233G>A - IntronicSNV - 21/24
5-32773275-A-G NPR3 c.1060-1539A>G - IntronicSNV - 3/7
2-169814655-G-T ABCB11 c.2179-17C>A - IntronicSNV - 18/27
2-169814655-G-A ABCB11 c.2179-17C>T - IntronicSNV - 18/27
8-19824045-C-A LPL c.*1224C>A - 3-UTRSNV 10/10 -
1-62949034-A-T DOCK7 c.5415+4035T>A - IntronicSNV - 42/48
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
16-57001438-G-A CETP c.234-1860G>A - IntronicSNV - 2/15
6-142648235-G-A ADGRG6 c.103+17454G>A - IntronicSNV - 2/24
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
3-141092050-G-C ZBTB38 c.-480+3262G>C - intron_variant - 3/7
2-169789016-T-C ABCB11 c.3084A>G p.Ala1028Ala Synonymous 24/28 -
7-44204322-G-A GCK c.46-11260C>T - IntronicSNV - 1/9
6-142745883-T-G ADGRG6 c.3235+4642T>G - IntronicSNV - 21/24
16-56834254-C-A NUP93 c.360+1804C>A - IntronicSNV - 4/21
1-62967987-C-T DOCK7 c.4671+2314G>A - IntronicSNV - 36/48
6-142703669-C-T ADGRG6 c.1138+513C>T - IntronicSNV - 5/24
6-142703669-C-G ADGRG6 c.1138+513C>G - IntronicSNV - 5/24
6-142703669-C-A ADGRG6 c.1138+513C>A - IntronicSNV - 5/24
15-89392091-A-G ACAN c.1733-578A>G - IntronicSNV - 9/15
1-62982891-C-A DOCK7 c.3844-3322G>T - IntronicSNV - 30/48
7-44216137-G-A GCK c.45+12371C>T - IntronicSNV - 1/9
1-62982891-C-T DOCK7 c.3844-3322G>A - IntronicSNV - 30/48
1-62906728-C-T USP1 c.171-431C>T - IntronicSNV - 2/8
1-63133930-G-A DOCK7 c.39-5129C>T - IntronicSNV - 1/48
20-33987576-G-A UQCC1 c.25-5577C>T - IntronicSNV - 1/9
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 -
20-33987576-G-C UQCC1 c.25-5577C>G - IntronicSNV - 1/9
2-169605967-G-A CERS6 c.846-16135G>A - IntronicSNV - 8/9
7-44226090-C-G GCK c.45+2418G>C - IntronicSNV - 1/9
1-63145439-G-A DOCK7 c.38+8459C>T - IntronicSNV - 1/48
5-176817583-A-T SLC34A1 c.936+2210A>T - IntronicSNV - 8/12
20-33992761-T-A UQCC1 c.24+6982A>T - IntronicSNV - 1/9
19-45187163-A-G CEACAM19 c.*401A>G - 3-UTRSNV 8/8 -
8-118185733-A-G SLC30A8 c.*813A>G - 3-UTRSNV 8/8 -
2-21232804-G-A APOB c.6936C>T p.Asp2312Asp Synonymous 26/29 -
1-63040728-G-T DOCK7 c.2112+2205C>A - IntronicSNV - 18/48
16-56996288-G-A CETP c.118+279G>A - IntronicSNV - 1/15
2-169809672-G-T ABCB11 c.2343+4802C>A - IntronicSNV - 19/27
16-53818460-G-T FTO c.46-25592G>T - IntronicSNV - 1/8
12-4384844-T-G CCND2 c.196-327T>G - IntronicSNV - 1/4
5-74808237-G-T POLK c.-14+498G>T - intron_variant - 1/14
15-58725839-A-G LIPC c.88+1520A>G - IntronicSNV - 1/8
1-62999595-C-G DOCK7 c.3518+1569G>C - IntronicSNV - 28/48
1-62960250-T-C DOCK7 c.4932-112A>G - IntronicSNV - 38/48
19-45303311-G-A CBLC c.1363-327G>A - IntronicSNV - 9/10
2-169802252-G-A ABCB11 c.2344-781C>T - IntronicSNV - 19/27
20-33924130-C-A UQCC1 c.573+10837G>T - IntronicSNV - 7/9
20-33969530-C-T UQCC1 c.333+191G>A - IntronicSNV - 4/9
2-44055922-C-T ABCG5 c.502-668G>A - IntronicSNV - 4/12
3-170734438-A-G SLC2A2 c.108+1882T>C - IntronicSNV - 2/10
16-57007353-C-T CETP c.861C>T p.Phe287Phe Synonymous 9/16 -
5-74816944-C-G POLK c.-14+9205C>G - intron_variant - 1/14
5-176819252-C-G SLC34A1 c.937-1443C>G - IntronicSNV - 8/12
3-193362377-T-C OPA1 c.1608+483T>C - IntronicSNV - 16/30
1-63056112-G-A DOCK7 c.1683-3817C>T - IntronicSNV - 14/48
6-142724918-C-T ADGRG6 c.1872-21C>T - IntronicSNV - 12/24
2-169797640-G-T ABCB11 c.2610+3475C>A - IntronicSNV - 21/27
20-33903636-C-T UQCC1 c.574-1068G>A - IntronicSNV - 7/9
20-33903636-C-G UQCC1 c.574-1068G>C - IntronicSNV - 7/9
20-33995972-C-T UQCC1 c.24+3771G>A - IntronicSNV - 1/9
2-169779712-T-C ABCB11 c.*420A>G - 3-UTRSNV 28/28 -
3-141096736-C-T ZBTB38 c.-479-3531C>T - intron_variant - 3/7
2-21259562-T-C APOB c.693+410A>G - IntronicSNV - 6/28
2-169780366-T-C ABCB11 c.3766-34A>G - IntronicSNV - 27/27
2-169806298-C-T ABCB11 c.2344-4827G>A - IntronicSNV - 19/27
8-19813702-G-A LPL c.1018+108G>A - IntronicSNV - 6/9
8-19813702-G-T LPL c.1018+108G>T - IntronicSNV - 6/9
1-63130991-G-A DOCK7 c.39-2190C>T - IntronicSNV - 1/48
8-118185025-G-A SLC30A8 c.*105G>A - 3-UTRSNV 8/8 -
16-56908884-G-A SLC12A3 c.1095+2186G>A - IntronicSNV - 8/25
1-62967747-A-G DOCK7 c.4671+2554T>C - IntronicSNV - 36/48
5-74651909-G-A HMGCR c.1881-259G>A - IntronicSNV - 14/19
1-63130431-C-T DOCK7 c.39-1630G>A - IntronicSNV - 1/48
16-56856572-A-G NUP93 c.655-1047A>G - IntronicSNV - 7/21
6-142746992-G-T ADGRG6 c.3235+5751G>T - IntronicSNV - 21/24
6-142746992-G-A ADGRG6 c.3235+5751G>A - IntronicSNV - 21/24
6-142724439-T-C ADGRG6 c.1871+472T>C - IntronicSNV - 12/24
16-57002663-C-G CETP c.234-635C>G - IntronicSNV - 2/15
16-57002663-C-T CETP c.234-635C>T - IntronicSNV - 2/15
15-58735222-A-C LIPC c.88+10903A>C - IntronicSNV - 1/8
6-142706063-C-T ADGRG6 c.1138+2907C>T - IntronicSNV - 5/24
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-63111069-G-C DOCK7 c.818+2293C>G - IntronicSNV - 7/48
20-34025983-A-G GDF5 c.1-275T>C - 5-UTRSNV 1/2 -
5-74666492-C-T COL4A3BP c.*3534G>A - 3_prime_UTR_variant 18/18 -
5-74666492-C-A COL4A3BP c.*3534G>T - 3_prime_UTR_variant 18/18 -
2-44057570-A-G ABCG5 c.501+1338T>C - IntronicSNV - 4/12
1-63105538-T-A DOCK7 c.819-3264A>T - IntronicSNV - 7/48
2-44057570-A-C ABCG5 c.501+1338T>G - IntronicSNV - 4/12
20-33960308-C-T UQCC1 c.406+1679G>A - IntronicSNV - 5/9
20-33960308-C-G UQCC1 c.406+1679G>C - IntronicSNV - 5/9
1-63094207-A-G DOCK7 c.1282+2704T>C - IntronicSNV - 11/48
9-107666414-T-C ABCA1 c.1-454A>G - IntronicSNV - 1/49
16-53831354-C-T FTO c.46-12698C>T - IntronicSNV - 1/8
1-62939466-G-C DOCK7 c.6119+187C>G - IntronicSNV - 47/48
6-26184102-G-T HIST1H2BE c.79G>T p.Gly27Cys Missense 1/1 -
16-53819937-A-T FTO c.46-24115A>T - IntronicSNV - 1/8
3-141115219-T-C ZBTB38 c.-232T>C - 5_prime_UTR_variant 6/8 -
3-141115219-T-A ZBTB38 c.-232T>A - 5_prime_UTR_variant 6/8 -
6-26184102-G-C HIST1H2BE c.79G>C p.Gly27Arg Missense 1/1 -
1-62999675-C-T DOCK7 c.3518+1489G>A - IntronicSNV - 28/48
7-44211337-T-C GCK c.45+17171A>G - IntronicSNV - 1/9
1-62903359-T-C USP1 c.-70+1126T>C - intron_variant - 1/8
16-53831771-G-T FTO c.46-12281G>T - IntronicSNV - 1/8
20-33894463-A-G UQCC1 c.765+6T>C - IntronicSNV - 9/9
20-33910941-C-T UQCC1 c.574-8373G>A - IntronicSNV - 7/9
2-44056148-A-T ABCG5 c.502-894T>A - IntronicSNV - 4/12
11-117018764-T-G PAFAH1B2 c.-8+3630T>G - intron_variant - 1/5
1-62903547-C-T USP1 c.-70+1314C>T - intron_variant - 1/8
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
7-44219074-T-C GCK c.45+9434A>G - IntronicSNV - 1/9
3-170715830-G-A SLC2A2 c.1437C>T p.Phe479Phe Synonymous 11/11 -
3-170715830-G-T SLC2A2 c.1437C>A p.Phe479Leu Missense 11/11 -
20-33925094-T-G UQCC1 c.573+9873A>C - IntronicSNV - 7/9
6-142687305-C-T ADGRG6 c.104-1401C>T - IntronicSNV - 2/24
20-33925094-T-C UQCC1 c.573+9873A>G - IntronicSNV - 7/9
1-62989807-C-T DOCK7 c.3843+4015G>A - IntronicSNV - 30/48
3-141133960-G-A ZBTB38 c.-1+11087G>A - intron_variant - 7/7
16-56834254-C-T NUP93 c.360+1804C>T - IntronicSNV - 4/21
15-58737661-C-A LIPC c.88+13342C>A - IntronicSNV - 1/8
1-62945418-A-C DOCK7 c.5416-1922T>G - IntronicSNV - 42/48
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
1-63127705-C-T DOCK7 c.144+991G>A - IntronicSNV - 2/48
20-34025756-A-G GDF5 c.1-48T>C - 5-UTRSNV 1/2 -
19-45253491-C-T BCL3 c.257-993C>T - IntronicSNV - 1/8
7-44243438-G-C YKT6 c.105-729G>C - IntronicSNV - 1/6
16-57010486-C-T CETP c.981+1423C>T - IntronicSNV - 10/15
16-53818708-G-T FTO c.46-25344G>T - IntronicSNV - 1/8
1-63129082-T-C DOCK7 c.39-281A>G - IntronicSNV - 1/48
1-62963737-G-A DOCK7 c.4672-1569C>T - IntronicSNV - 36/48
7-44200884-T-C GCK c.46-7822A>G - IntronicSNV - 1/9
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
16-57017662-G-A CETP c.*84G>A - 3-UTRSNV 16/16 -
16-53822440-G-A FTO c.46-21612G>A - IntronicSNV - 1/8
20-33905904-C-G UQCC1 c.574-3336G>C - IntronicSNV - 7/9
1-62977419-G-T DOCK7 c.4190-1075C>A - IntronicSNV - 32/48
3-141133960-G-C ZBTB38 c.-1+11087G>C - intron_variant - 7/7
1-63128081-C-T DOCK7 c.144+615G>A - IntronicSNV - 2/48
16-57010948-T-G CETP c.982-1055T>G - IntronicSNV - 10/15
20-33905904-C-A UQCC1 c.574-3336G>T - IntronicSNV - 7/9
15-58740094-C-G LIPC c.88+15775C>G - IntronicSNV - 1/8
16-53810546-C-A FTO c.46-33506C>A - IntronicSNV - 1/8
6-142703877-G-A ADGRG6 c.1138+721G>A - IntronicSNV - 5/24
7-44216754-C-T GCK c.45+11754G>A - IntronicSNV - 1/9
5-74757556-G-A COL4A3BP c.232-2550C>T - IntronicSNV - 2/17
14-23874117-T-C MYH6 c.531-86A>G - IntronicSNV - 6/38
13-28497828-A-G PDX1 c.407-565A>G - IntronicSNV - 1/1
3-141109348-C-T ZBTB38 c.-351+3569C>T - intron_variant - 5/7
20-33998486-C-T UQCC1 c.24+1257G>A - IntronicSNV - 1/9
1-63009956-C-T DOCK7 c.2767-540G>A - IntronicSNV - 22/48
6-142766347-C-G ADGRG6 c.*1828C>G - 3-UTRSNV 25/25 -
19-45448465-T-A APOC4 c.287T>A p.Leu96His Missense 3/3 -
16-56872824-G-A NUP93 c.2019-40G>A - IntronicSNV - 18/21
19-45448465-T-G APOC4 c.287T>G p.Leu96Arg Missense 3/3 -
1-62981440-G-A DOCK7 c.3844-1871C>T - IntronicSNV - 30/48
6-142703483-A-G ADGRG6 c.1138+327A>G - IntronicSNV - 5/24
3-141128804-G-A ZBTB38 c.-1+5931G>A - intron_variant - 7/7
3-141128804-G-C ZBTB38 c.-1+5931G>C - intron_variant - 7/7
2-169802310-G-T ABCB11 c.2344-839C>A - IntronicSNV - 19/27
21-44276432-G-C WDR4 c.628-542C>G - IntronicSNV - 6/10
20-33973378-G-C UQCC1 c.130-1442C>G - IntronicSNV - 2/9
2-27741072-C-G GCKR c.1423-583C>G - IntronicSNV - 16/18
6-126661858-C-T CENPW c.126+313C>T - IntronicSNV - 1/2
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
1-62908235-T-C USP1 c.396+265T>C - IntronicSNV - 4/8
2-169798171-A-G ABCB11 c.2610+2944T>C - IntronicSNV - 21/27
1-63013786-A-G DOCK7 c.2767-4370T>C - IntronicSNV - 22/48
16-53821297-T-C FTO c.46-22755T>C - IntronicSNV - 1/8
1-63122859-C-A DOCK7 c.145-3029G>T - IntronicSNV - 2/48
2-44066247-G-A ABCG8 c.55G>A p.Asp19Asn Missense 1/13 -
15-89383764-T-C ACAN c.629+347T>C - IntronicSNV - 4/15
6-142652416-T-G ADGRG6 c.103+21635T>G - IntronicSNV - 2/24
5-74808880-C-T POLK c.-14+1141C>T - intron_variant - 1/14
5-74768347-C-A COL4A3BP c.232-13341G>T - IntronicSNV - 2/17
1-63107526-C-T DOCK7 c.819-5252G>A - IntronicSNV - 7/48
20-33997291-T-G UQCC1 c.24+2452A>C - IntronicSNV - 1/9
20-33997291-T-A UQCC1 c.24+2452A>T - IntronicSNV - 1/9
16-57008227-G-A CETP c.931-786G>A - IntronicSNV - 9/15
20-33967523-T-C UQCC1 c.333+2198A>G - IntronicSNV - 4/9
3-141124607-T-C ZBTB38 c.-1+1734T>C - intron_variant - 7/7
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
16-53827179-C-G FTO c.46-16873C>G - IntronicSNV - 1/8
7-44245363-A-C YKT6 c.188-621A>C - IntronicSNV - 2/6
7-44245363-A-G YKT6 c.188-621A>G - IntronicSNV - 2/6
1-62973795-A-T DOCK7 c.4287-66T>A - IntronicSNV - 33/48
1-62973795-A-G DOCK7 c.4287-66T>C - IntronicSNV - 33/48
2-44074000-G-A ABCG8 c.322+550G>A - IntronicSNV - 3/12
1-63096781-C-A DOCK7 c.1282+130G>T - IntronicSNV - 11/48
16-53822239-A-T FTO c.46-21813A>T - IntronicSNV - 1/8
16-53822239-A-G FTO c.46-21813A>G - IntronicSNV - 1/8
13-28499962-G-C PDX1 c.*1124G>C - 3-UTRSNV 2/2 -
3-141106954-A-T ZBTB38 c.-351+1175A>T - intron_variant - 5/7
2-44075483-T-C ABCG8 c.322+2033T>C - IntronicSNV - 3/12
1-62983751-C-T DOCK7 c.3844-4182G>A - IntronicSNV - 30/48
19-45351891-A-C NECTIN2 c.88+2021A>C - IntronicSNV - 1/5
16-56790343-A-G NUP93 c.180-2107A>G - IntronicSNV - 2/21
2-169799288-C-T ABCB11 c.2610+1827G>A - IntronicSNV - 21/27
5-74639259-T-G HMGCR c.166-419T>G - IntronicSNV - 2/19
2-169799288-C-G ABCB11 c.2610+1827G>C - IntronicSNV - 21/27
6-142751062-G-C ADGRG6 c.3236-7509G>C - IntronicSNV - 21/24
2-227660641-A-G IRS1 c.2814T>C p.Thr938Thr Synonymous 1/2 -
8-19815619-T-C LPL c.1019-1152T>C - IntronicSNV - 6/9
2-169735430-G-A SPC25 c.200-1536C>T - IntronicSNV - 3/6
2-169811618-T-A ABCB11 c.2343+2856A>T - IntronicSNV - 19/27
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
16-56998572-G-C CETP c.233+1536G>C - IntronicSNV - 2/15
6-142757368-G-A ADGRG6 c.3236-1203G>A - IntronicSNV - 21/24
8-19824563-T-C LPL c.*1742T>C - 3-UTRSNV 10/10 -
5-176813404-C-T SLC34A1 c.389-20C>T - IntronicSNV - 4/12
1-62906489-G-T USP1 c.171-670G>T - IntronicSNV - 2/8
16-53820813-A-G FTO c.46-23239A>G - IntronicSNV - 1/8
2-169779764-C-T ABCB11 c.*368G>A - 3-UTRSNV 28/28 -
2-169758357-T-C G6PC2 c.218+298T>C - IntronicSNV - 1/4
6-142652344-C-T ADGRG6 c.103+21563C>T - IntronicSNV - 2/24
8-19820480-C-T LPL c.1427+750C>T - IntronicSNV - 9/9
16-53819893-A-G FTO c.46-24159A>G - IntronicSNV - 1/8
6-142710988-C-G ADGRG6 c.1139-407C>G - IntronicSNV - 5/24
16-53816838-G-A FTO c.46-27214G>A - IntronicSNV - 1/8
20-33984976-T-G UQCC1 c.25-2977A>C - IntronicSNV - 1/9
20-33984976-T-C UQCC1 c.25-2977A>G - IntronicSNV - 1/9
20-33984976-T-A UQCC1 c.25-2977A>T - IntronicSNV - 1/9
2-169779764-C-A ABCB11 c.*368G>T - 3-UTRSNV 28/28 -
2-169779764-C-G ABCB11 c.*368G>C - 3-UTRSNV 28/28 -
16-53824007-G-A FTO c.46-20045G>A - IntronicSNV - 1/8
7-44261978-G-A CAMK2B c.947-1478C>T - IntronicSNV - 12/15
3-141129999-G-A ZBTB38 c.-1+7126G>A - intron_variant - 7/7
7-44210710-C-T GCK c.46-17648G>A - IntronicSNV - 1/9
1-62943007-G-T DOCK7 c.5541+364C>A - IntronicSNV - 43/48
7-44210710-C-G GCK c.46-17648G>C - IntronicSNV - 1/9
6-25821616-T-A SLC17A1 c.208-1473A>T - IntronicSNV - 3/12
16-57009388-G-T CETP c.981+325G>T - IntronicSNV - 10/15
16-57009388-G-A CETP c.981+325G>A - IntronicSNV - 10/15
2-169797526-C-T ABCB11 c.2610+3589G>A - IntronicSNV - 21/27
6-25821616-T-G SLC17A1 c.208-1473A>C - IntronicSNV - 3/12
3-141140366-A-T ZBTB38 c.-1+17493A>T - intron_variant - 7/7
1-62991369-T-C DOCK7 c.3843+2453A>G - IntronicSNV - 30/48
16-57061189-T-C NLRC5 c.2075+259T>C - IntronicSNV - 5/47
2-44055510-C-T ABCG5 c.502-256G>A - IntronicSNV - 4/12
2-44055510-C-A ABCG5 c.502-256G>T - IntronicSNV - 4/12
6-142653898-A-G ADGRG6 c.103+23117A>G - IntronicSNV - 2/24
20-33972053-C-T UQCC1 c.130-117G>A - IntronicSNV - 2/9
11-64478063-G-C NRXN2 c.730+2379C>G - IntronicSNV - 2/22
11-64478063-G-A NRXN2 c.730+2379C>T - IntronicSNV - 2/22
8-19821425-T-A LPL c.-1-1396T>A - IntronicSNV - 9/9
8-19821425-T-G LPL c.-1-1396T>G - IntronicSNV - 9/9
15-58731153-G-A LIPC c.88+6834G>A - IntronicSNV - 1/8
15-58731153-G-C LIPC c.88+6834G>C - IntronicSNV - 1/8
6-127440047-T-C RSPO3 c.1-291T>C - IntergenicSNV 1/5 -
2-169597715-A-G CERS6 c.845+23227A>G - IntronicSNV - 8/9
1-63099577-G-A DOCK7 c.1036-328C>T - IntronicSNV - 9/48
15-58731153-G-T LIPC c.88+6834G>T - IntronicSNV - 1/8
20-33951799-G-C UQCC1 c.464+2561C>G - IntronicSNV - 6/9
1-62970996-T-C DOCK7 c.4518+357A>G - IntronicSNV - 35/48
20-33924273-C-A UQCC1 c.573+10694G>T - IntronicSNV - 7/9
20-33985057-A-G UQCC1 c.25-3058T>C - IntronicSNV - 1/9
8-19801530-T-G LPL c.89-4161T>G - IntronicSNV - 1/9
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
1-62915473-C-T USP1 c.1623-444C>T - IntronicSNV - 8/8
16-57065556-C-T NLRC5 c.2477+181C>T - IntronicSNV - 10/47
16-53837144-G-T FTO c.46-6908G>T - IntronicSNV - 1/8
2-169801488-A-G ABCB11 c.2344-17T>C - IntronicSNV - 19/27
6-142670955-T-C ADGRG6 c.104-17751T>C - IntronicSNV - 2/24
15-89400680-A-G ACAN c.4864A>G p.Thr1622Ala Missense 12/16 -
18-46754064-G-A DYM c.1460+29316C>T - IntronicSNV - 13/16
19-45359586-C-G NECTIN2 c.89-8942C>G - IntronicSNV - 1/5
19-45359586-C-T NECTIN2 c.89-8942C>T - IntronicSNV - 1/5
20-33925843-C-A UQCC1 c.573+9124G>T - IntronicSNV - 7/9
6-142658162-G-A ADGRG6 c.103+27381G>A - IntronicSNV - 2/24
6-142658162-G-T ADGRG6 c.103+27381G>T - IntronicSNV - 2/24
16-53839135-T-G FTO c.46-4917T>G - IntronicSNV - 1/8
16-53839135-T-A FTO c.46-4917T>A - IntronicSNV - 1/8
16-53839135-T-C FTO c.46-4917T>C - IntronicSNV - 1/8
2-169715702-A-C NOSTRIN c.820-320A>C - IntronicSNV - 11/14
20-33926103-C-G UQCC1 c.573+8864G>C - IntronicSNV - 7/9
19-45186873-G-T CEACAM19 c.*111G>T - 3-UTRSNV 8/8 -
2-169783565-T-G ABCB11 c.3618+101A>C - IntronicSNV - 26/27
19-45395714-T-C TOMM40 c.339T>C p.Phe113Phe Synonymous 3/10 -
7-44204994-G-A GCK c.46-11932C>T - IntronicSNV - 1/9
1-62926371-A-T DOCK7 c.6120-2995T>A - IntronicSNV - 47/48
1-62929892-G-A DOCK7 c.6120-6516C>T - IntronicSNV - 47/48
1-62929892-G-T DOCK7 c.6120-6516C>A - IntronicSNV - 47/48
1-63105538-T-C DOCK7 c.819-3264A>G - IntronicSNV - 7/48
3-141150990-G-A ZBTB38 c.1-10241G>A - IntronicSNV - 7/7
3-141150990-G-T ZBTB38 c.1-10241G>T - IntronicSNV - 7/7
20-33923001-T-G UQCC1 c.573+11966A>C - IntronicSNV - 7/9
2-169794687-C-T ABCB11 c.2611-1744G>A - IntronicSNV - 21/27
2-228006255-A-G COL4A4 c.115-1301T>C - IntronicSNV - 3/47
16-53820503-G-A FTO c.46-23549G>A - IntronicSNV - 1/8
16-53800568-G-A FTO c.46-43484G>A - IntronicSNV - 1/8
16-53822502-T-A FTO c.46-21550T>A - IntronicSNV - 1/8
16-57007446-T-A CETP c.930+24T>A - IntronicSNV - 9/15
16-57007446-T-G CETP c.930+24T>G - IntronicSNV - 9/15
8-19822810-C-T LPL c.-1-11C>T - IntronicSNV - 9/9
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 -
20-33987818-T-C UQCC1 c.25-5819A>G - IntronicSNV - 1/9
12-112007756-C-T ATXN2 c.252-14033G>A - intron_variant - 1/24
20-33987818-T-A UQCC1 c.25-5819A>T - IntronicSNV - 1/9
20-33948919-A-G UQCC1 c.464+5441T>C - IntronicSNV - 6/9
2-169814347-A-T ABCB11 c.2343+127T>A - IntronicSNV - 19/27
15-76295311-A-T NRG4 c.104+6230T>A - IntronicSNV - 3/5
2-169814347-A-G ABCB11 c.2343+127T>C - IntronicSNV - 19/27
15-58726744-G-C LIPC c.88+2425G>C - IntronicSNV - 1/8
13-28495193-G-A PDX1 c.406+512G>A - IntronicSNV - 1/1
20-33905326-C-T UQCC1 c.574-2758G>A - IntronicSNV - 7/9
2-169763148-T-C G6PC2 c.441-26T>C - IntronicSNV - 3/4
6-142735221-G-C ADGRG6 c.2458-885G>C - IntronicSNV - 17/24
16-72101525-C-G HPR c.5+4366C>G - IntronicSNV - 1/4
20-33909245-G-A UQCC1 c.574-6677C>T - IntronicSNV - 7/9
2-169782353-A-C ABCB11 c.3619-1040T>G - IntronicSNV - 26/27
19-45356464-T-A NECTIN2 c.88+6594T>A - IntronicSNV - 1/5
2-169803568-C-T ABCB11 c.2344-2097G>A - IntronicSNV - 19/27
6-142720354-G-A ADGRG6 c.1484-1268G>A - IntronicSNV - 9/24
5-10699086-C-T DAP c.153-15403G>A - IntronicSNV - 2/3
16-56869715-T-A NUP93 c.1783-798T>A - IntronicSNV - 16/21
20-33974051-T-A UQCC1 c.130-2115A>T - IntronicSNV - 2/9
1-109800349-G-A CELSR2 c.3311-705G>A - IntronicSNV - 1/33
20-33974051-T-C UQCC1 c.130-2115A>G - IntronicSNV - 2/9
19-11214533-T-G LDLR c.313+1071T>G - IntronicSNV - 3/17
20-33949282-T-C UQCC1 c.464+5078A>G - IntronicSNV - 6/9
2-169805511-A-C ABCB11 c.2344-4040T>G - IntronicSNV - 19/27
1-63085266-C-T DOCK7 c.1519+305G>A - IntronicSNV - 13/48
1-62960575-T-C DOCK7 c.4932-437A>G - IntronicSNV - 38/48
2-169704754-T-A NOSTRIN c.397-2840T>A - IntronicSNV - 7/14
19-11214533-T-A LDLR c.313+1071T>A - IntronicSNV - 3/17
16-53803223-G-A FTO c.46-40829G>A - IntronicSNV - 1/8
19-45134682-A-C IGSF23 c.545+3812A>C - IntronicSNV - 3/4
20-33960799-A-G UQCC1 c.406+1188T>C - IntronicSNV - 5/9
6-142742659-T-C ADGRG6 c.3235+1418T>C - IntronicSNV - 21/24
2-169786287-G-A ABCB11 c.3411+888C>T - IntronicSNV - 25/27
1-109815252-A-G CELSR2 c.8055-10A>G - IntronicSNV - 29/33
2-169777595-C-T ABCB11 c.*2537G>A - IntergenicSNV 28/28 -
1-62943979-G-A DOCK7 c.5416-483C>T - IntronicSNV - 42/48
7-44189010-C-G GCK c.679+349G>C - IntronicSNV - 6/9
20-33910406-G-A UQCC1 c.574-7838C>T - IntronicSNV - 7/9
6-142717283-C-G ADGRG6 c.1341-1467C>G - IntronicSNV - 8/24
7-44189010-C-T GCK c.679+349G>A - IntronicSNV - 6/9
16-53830491-T-C FTO c.46-13561T>C - IntronicSNV - 1/8
2-169794771-A-T ABCB11 c.2611-1828T>A - IntronicSNV - 21/27
20-33958127-C-G UQCC1 c.407-3710G>C - IntronicSNV - 5/9
20-33958127-C-A UQCC1 c.407-3710G>T - IntronicSNV - 5/9
20-33958127-C-T UQCC1 c.407-3710G>A - IntronicSNV - 5/9
20-33926268-A-T UQCC1 c.573+8699T>A - IntronicSNV - 7/9
1-62905893-C-T USP1 c.170+185C>T - IntronicSNV - 2/8
1-63096781-C-G DOCK7 c.1282+130G>C - IntronicSNV - 11/48
1-62962734-A-G DOCK7 c.4672-566T>C - IntronicSNV - 36/48
1-62906537-G-T USP1 c.171-622G>T - IntronicSNV - 2/8
19-45255266-T-C BCL3 c.410+629T>C - IntronicSNV - 2/8
20-33910581-G-A UQCC1 c.574-8013C>T - IntronicSNV - 7/9
3-141154542-T-C ZBTB38 c.1-6689T>C - IntronicSNV - 7/7
6-142655801-T-A ADGRG6 c.103+25020T>A - IntronicSNV - 2/24
1-62914978-G-A USP1 c.1622+641G>A - IntronicSNV - 8/8
8-19819217-A-C LPL c.1323-409A>C - IntronicSNV - 8/9
19-45382034-A-G NECTIN2 c.*157A>G - 3-UTRSNV 6/6 -
7-151415041-A-G PRKAG2 c.467-42318T>C - IntronicSNV - 3/15
1-63013134-A-G DOCK7 c.2767-3718T>C - IntronicSNV - 22/48
10-61469538-T-C SLC16A9 c.-338A>G - 5_prime_UTR_variant 1/6 -
1-62996046-C-T DOCK7 c.3519-929G>A - IntronicSNV - 28/48
16-53830055-C-G FTO c.46-13997C>G - IntronicSNV - 1/8
2-169800428-A-G ABCB11 c.2610+687T>C - IntronicSNV - 21/27
19-45302504-G-A CBLC c.1363-1134G>A - IntronicSNV - 9/10
2-169788474-T-C ABCB11 c.3213+413A>G - IntronicSNV - 24/27
16-53826028-T-C FTO c.46-18024T>C - IntronicSNV - 1/8
2-44058201-G-A ABCG5 c.501+707C>T - IntronicSNV - 4/12
2-169797060-A-G ABCB11 c.2610+4055T>C - IntronicSNV - 21/27
3-141156670-C-G ZBTB38 c.1-4561C>G - IntronicSNV - 3/7
1-63072265-A-T DOCK7 c.1682+12112T>A - IntronicSNV - 14/48
1-63072265-A-C DOCK7 c.1682+12112T>G - IntronicSNV - 14/48
20-33966325-C-T UQCC1 c.333+3396G>A - IntronicSNV - 4/9
5-176822512-G-T SLC34A1 c.1175-1222G>T - IntronicSNV - 10/12
16-56972250-C-T HERPUD1 c.429-899C>T - IntronicSNV - 4/7
16-53821125-A-T FTO c.46-22927A>T - IntronicSNV - 1/8
2-169794431-C-T ABCB11 c.2611-1488G>A - IntronicSNV - 21/27
20-33907161-T-C UQCC1 c.574-4593A>G - IntronicSNV - 7/9
16-53819771-G-A FTO c.46-24281G>A - IntronicSNV - 1/8
19-45355721-C-G NECTIN2 c.88+5851C>G - IntronicSNV - 1/5
5-176815880-G-C SLC34A1 c.936+507G>C - IntronicSNV - 8/12
7-44189274-T-C GCK c.679+85A>G - IntronicSNV - 6/9
1-62945418-A-G DOCK7 c.5416-1922T>C - IntronicSNV - 42/48
1-62945418-A-T DOCK7 c.5416-1922T>A - IntronicSNV - 42/48
16-56996211-G-C CETP c.118+202G>C - IntronicSNV - 1/15
16-53821125-A-G FTO c.46-22927A>G - IntronicSNV - 1/8
20-33909752-T-C UQCC1 c.574-7184A>G - IntronicSNV - 7/9
5-74644706-T-G HMGCR c.557-1161T>G - IntronicSNV - 6/19
16-53845169-T-G FTO c.123+1040T>G - IntronicSNV - 2/8
5-74636484-C-A HMGCR c.1-1947C>A - IntronicSNV - 1/19
1-63060311-A-C DOCK7 c.1683-8016T>G - IntronicSNV - 14/48
7-44203912-A-T GCK c.46-10850T>A - IntronicSNV - 1/9
2-169742934-T-C SPC25 c.199+2802A>G - IntronicSNV - 3/6
9-107661742-A-C ABCA1 c.66+4153T>G - IntronicSNV - 2/49
19-45394969-T-G TOMM40 c.274+23T>G - IntronicSNV - 2/9
1-62957199-C-G DOCK7 c.5268+1176G>C - IntronicSNV - 40/48
16-53818724-G-A FTO c.46-25328G>A - IntronicSNV - 1/8
7-44217126-C-T GCK c.45+11382G>A - IntronicSNV - 1/9
20-33983485-A-G UQCC1 c.25-1486T>C - IntronicSNV - 1/9
6-126666416-C-G CENPW c.127-935C>G - IntronicSNV - 1/2
3-141148419-G-A ZBTB38 c.1-12812G>A - IntronicSNV - 7/7
20-33996433-T-C UQCC1 c.24+3310A>G - IntronicSNV - 1/9
19-45377334-G-A NECTIN2 c.893+44G>A - IntronicSNV - 4/5
16-56826362-A-C NUP93 c.298-6026A>C - IntronicSNV - 3/21
6-142663177-T-C ADGRG6 c.104-25529T>C - IntronicSNV - 2/24
8-19808030-G-A LPL c.250-1250G>A - IntronicSNV - 2/9
15-58742418-G-A LIPC c.88+18099G>A - IntronicSNV - 1/8
16-53800754-G-A FTO c.46-43298G>A - IntronicSNV - 1/8
19-45396665-G-T TOMM40 c.436-372G>T - IntronicSNV - 4/9
19-45396665-G-A TOMM40 c.436-372G>A - IntronicSNV - 4/9
15-89397827-A-G ACAN c.2267-256A>G - IntronicSNV - 11/15
7-151415256-C-T PRKAG2 c.467-42533G>A - IntronicSNV - 3/15
20-33986549-C-T UQCC1 c.25-4550G>A - IntronicSNV - 1/9
2-169798439-T-A ABCB11 c.2610+2676A>T - IntronicSNV - 21/27
2-169798439-T-C ABCB11 c.2610+2676A>G - IntronicSNV - 21/27
2-169743792-C-T SPC25 c.199+1944G>A - IntronicSNV - 3/6
20-33986549-C-G UQCC1 c.25-4550G>C - IntronicSNV - 1/9
16-56818259-A-C NUP93 c.298-14129A>C - IntronicSNV - 3/21
16-67977348-C-T LCAT c.155-233G>A - IntronicSNV - 1/5
6-142641606-T-C ADGRG6 c.103+10825T>C - IntronicSNV - 2/24
2-169790935-G-A ABCB11 c.3056+759C>T - IntronicSNV - 23/27
2-169708308-A-T NOSTRIN c.621+394A>T - IntronicSNV - 9/14
3-32347704-A-G CMTM8 c.148-51161A>G - IntronicSNV - 1/3
2-169710607-G-A NOSTRIN c.622-1255G>A - IntronicSNV - 9/14
1-63095711-C-T DOCK7 c.1282+1200G>A - IntronicSNV - 11/48
1-63120371-C-T DOCK7 c.145-541G>A - IntronicSNV - 2/48
3-141096755-C-T ZBTB38 c.-479-3512C>T - intron_variant - 3/7
1-62980410-T-C DOCK7 c.3844-841A>G - IntronicSNV - 30/48
19-45447221-G-A APOC4 c.77-785G>A - IntronicSNV - 1/2
20-33994265-G-T UQCC1 c.24+5478C>A - IntronicSNV - 1/9
16-53807764-A-C FTO c.46-36288A>C - IntronicSNV - 1/8
16-53802494-C-T FTO c.46-41558C>T - IntronicSNV - 1/8
20-33947730-T-C UQCC1 c.464+6630A>G - IntronicSNV - 6/9
16-56966554-T-C HERPUD1 c.147+251T>C - IntronicSNV - 1/7
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
20-33994265-G-A UQCC1 c.24+5478C>T - IntronicSNV - 1/9
1-63045506-A-C DOCK7 c.1872-869T>G - IntronicSNV - 16/48
16-57001216-C-T CETP c.234-2082C>T - IntronicSNV - 2/15
16-53807764-A-G FTO c.46-36288A>G - IntronicSNV - 1/8
8-19815852-T-C LPL c.1019-919T>C - IntronicSNV - 6/9
16-56998918-A-G CETP c.233+1882A>G - IntronicSNV - 2/15
1-63098641-A-C DOCK7 c.1116+528T>G - IntronicSNV - 10/48
16-56998918-A-C CETP c.233+1882A>C - IntronicSNV - 2/15
1-63010871-T-C DOCK7 c.2767-1455A>G - IntronicSNV - 22/48
3-141121814-A-C ZBTB38 c.-105-955A>C - intron_variant - 6/7
16-56945049-C-A SLC12A3 c.2952-2127C>A - IntronicSNV - 25/25
3-141140968-C-T ZBTB38 c.-1+18095C>T - intron_variant - 7/7
2-169796772-A-G ABCB11 c.2611-3829T>C - IntronicSNV - 21/27
8-19823192-T-C LPL c.*371T>C - 3-UTRSNV 10/10 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
17-41926126-C-T CD300LG c.244C>T p.Arg82Cys Missense 2/7 -
16-57088865-C-T NLRC5 c.3597-79C>T - IntronicSNV - 24/47
20-33942685-G-A UQCC1 c.465-7610C>T - IntronicSNV - 6/9
16-53825488-C-T FTO c.46-18564C>T - IntronicSNV - 1/8
16-53812433-T-C FTO c.46-31619T>C - IntronicSNV - 1/8
20-33971085-A-G UQCC1 c.225+756T>C - IntronicSNV - 3/9
20-33971085-A-T UQCC1 c.225+756T>A - IntronicSNV - 3/9
16-56969148-G-A HERPUD1 c.149G>A p.Arg50His Missense 2/8 -
8-19823674-C-G LPL c.*853C>G - 3-UTRSNV 10/10 -
20-33972948-G-A UQCC1 c.130-1012C>T - IntronicSNV - 2/9
2-169782880-A-T ABCB11 c.3618+786T>A - IntronicSNV - 26/27
16-53820066-T-C FTO c.46-23986T>C - IntronicSNV - 1/8
19-11209629-G-A LDLR c.68-1270G>A - IntronicSNV - 1/17
20-33970462-A-G UQCC1 c.226-634T>C - IntronicSNV - 3/9
1-6279370-G-C RNF207 c.1808G>C p.Gly603Ala Missense 18/18 -
11-116692293-C-T APOA4 c.481G>A p.Ala161Thr Missense 3/3 -
11-116692293-C-A APOA4 c.481G>T p.Ala161Ser Missense 3/3 -
16-53816752-A-G FTO c.46-27300A>G - IntronicSNV - 1/8
2-169801905-T-C ABCB11 c.2344-434A>G - IntronicSNV - 19/27
3-141160765-A-G ZBTB38 c.1-466A>G - IntronicSNV 4/8 -
16-53848561-A-G FTO c.123+4432A>G - IntronicSNV - 2/8
1-62911341-T-C USP1 c.1249+241T>C - IntronicSNV - 6/8
17-74283669-A-G QRICH2 c.3398+212T>C - IntronicSNV - 6/18
2-169788039-A-G ABCB11 c.3214-667T>C - IntronicSNV - 24/27
15-58741177-C-T LIPC c.88+16858C>T - IntronicSNV - 1/8
19-45398633-G-C TOMM40 c.643+1310G>C - IntronicSNV - 6/9
16-53801549-C-T FTO c.46-42503C>T - IntronicSNV - 1/8
7-44219338-A-G GCK c.45+9170T>C - IntronicSNV - 1/9
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
1-63015199-A-T DOCK7 c.2766+3204T>A - IntronicSNV - 22/48
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
2-169759903-G-A G6PC2 c.328+839G>A - IntronicSNV - 2/4
19-45397229-G-A TOMM40 c.549G>A p.Ser183Ser Synonymous 6/10 -
20-33939973-G-C UQCC1 c.465-4898C>G - IntronicSNV - 6/9
2-169798619-T-C ABCB11 c.2610+2496A>G - IntronicSNV - 21/27
2-169792421-A-G ABCB11 c.2814+319T>C - IntronicSNV - 22/27
20-33997734-G-A UQCC1 c.24+2009C>T - IntronicSNV - 1/9
20-33997734-G-C UQCC1 c.24+2009C>G - IntronicSNV - 1/9
6-126661154-T-C CENPW c.1-266T>C - IntergenicSNV 1/3 -
15-76158983-G-A UBE2Q2 c.388-2309G>A - IntronicSNV - 3/12
2-169780818-A-T ABCB11 c.3765+349T>A - IntronicSNV - 27/27
2-169780818-A-G ABCB11 c.3765+349T>C - IntronicSNV - 27/27
19-45179631-C-T CEACAM19 c.513C>T p.Ala171Ala Synonymous 3/8 -
20-33960486-T-C UQCC1 c.406+1501A>G - IntronicSNV - 5/9
19-45179631-C-G CEACAM19 c.513C>G p.Ala171Ala Synonymous 3/8 -
15-89391014-G-A ACAN c.1605-128G>A - IntronicSNV - 8/15
19-11275394-C-G KANK2 c.*1840G>C - 3-UTRSNV 11/11 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
19-11275394-C-T KANK2 c.*1840G>A - 3-UTRSNV 11/11 -
19-11275394-C-A KANK2 c.*1840G>T - 3-UTRSNV 11/11 -
16-57009769-T-A CETP c.981+706T>A - IntronicSNV - 10/15
19-45354238-G-A NECTIN2 c.88+4368G>A - IntronicSNV - 1/5
19-45354238-G-C NECTIN2 c.88+4368G>C - IntronicSNV - 1/5
7-151414329-T-A PRKAG2 c.467-41606A>T - IntronicSNV - 3/15
7-151414329-T-C PRKAG2 c.467-41606A>G - IntronicSNV - 3/15
15-58740094-C-T LIPC c.88+15775C>T - IntronicSNV - 1/8
2-169800441-A-T ABCB11 c.2610+674T>A - IntronicSNV - 21/27
16-56874184-G-A NUP93 c.2220+668G>A - IntronicSNV - 20/21
2-169807482-C-G ABCB11 c.2344-6011G>C - IntronicSNV - 19/27
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
8-19823674-C-T LPL c.*853C>T - 3-UTRSNV 10/10 -
16-57008287-A-G CETP c.931-726A>G - IntronicSNV - 9/15
1-62936912-T-G DOCK7 c.6119+2741A>C - IntronicSNV - 47/48
1-62936912-T-C DOCK7 c.6119+2741A>G - IntronicSNV - 47/48
1-62936912-T-A DOCK7 c.6119+2741A>T - IntronicSNV - 47/48
19-45354238-G-T NECTIN2 c.88+4368G>T - IntronicSNV - 1/5
5-74826735-G-A POLK c.1-16113G>A - IntronicSNV - 1/14
5-74826735-G-C POLK c.1-16113G>C - IntronicSNV - 1/14
11-67024534-C-T KDM2A c.*2008C>T - 3-UTRSNV 21/21 -
8-19803093-C-T LPL c.89-2598C>T - IntronicSNV - 1/9
1-63001120-A-T DOCK7 c.3518+44T>A - IntronicSNV - 28/48
20-33976823-C-T UQCC1 c.130-4887G>A - IntronicSNV - 2/9
1-63086001-T-A DOCK7 c.1426-337A>T - IntronicSNV - 12/48
1-63002551-A-G DOCK7 c.3378+1011T>C - IntronicSNV - 27/48
5-74748505-C-T COL4A3BP c.348+6385G>A - IntronicSNV - 3/17
16-53830465-A-G FTO c.46-13587A>G - IntronicSNV - 1/8
1-63026429-T-G DOCK7 c.2199+859A>C - IntronicSNV - 19/48
1-62921586-T-C DOCK7 c.6288-459A>G - IntronicSNV - 48/48
1-62996838-C-G DOCK7 c.3519-1721G>C - IntronicSNV - 28/48
19-45376284-C-T NECTIN2 c.775+878C>T - IntronicSNV - 3/5
16-53837342-A-G FTO c.46-6710A>G - IntronicSNV - 1/8
16-53799847-G-A FTO c.46-44205G>A - IntronicSNV - 1/8
16-57016092-G-A CETP c.1264G>A p.Val422Ile Missense 14/16 -
20-33912180-A-T UQCC1 c.574-9612T>A - IntronicSNV - 7/9
1-62949960-T-C DOCK7 c.5415+3109A>G - IntronicSNV - 42/48
2-169807362-T-C ABCB11 c.2344-5891A>G - IntronicSNV - 19/27
11-116701354-G-A APOC3 c.55+1G>A - IntronicSNV - 2/3
16-53824226-A-G FTO c.46-19826A>G - IntronicSNV - 1/8
16-57014411-T-C CETP c.1147-659T>C - IntronicSNV - 11/15
16-53799507-G-A FTO c.46-44545G>A - IntronicSNV - 1/8
17-59465697-T-C BCAS3 c.2594-3641T>C - IntronicSNV - 23/23
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
5-74689249-T-C COL4A3BP c.1189-3737A>G - IntronicSNV - 11/17
2-169783209-A-T ABCB11 c.3618+457T>A - IntronicSNV - 26/27
2-169783209-A-G ABCB11 c.3618+457T>C - IntronicSNV - 26/27
3-141156434-A-G ZBTB38 c.1-4797A>G - IntronicSNV - 3/7
2-44069772-G-A ABCG8 c.64-1874G>A - IntronicSNV - 1/12
2-169797304-A-G ABCB11 c.2610+3811T>C - IntronicSNV - 21/27
3-170733076-G-A SLC2A2 c.109-556C>T - IntronicSNV - 2/10
2-169811224-T-C ABCB11 c.2343+3250A>G - IntronicSNV - 19/27
3-170717521-T-A SLC2A2 c.1069-566A>T - IntronicSNV - 8/10
5-176817143-G-A SLC34A1 c.936+1770G>A - IntronicSNV - 8/12
1-62949034-A-G DOCK7 c.5415+4035T>C - IntronicSNV - 42/48
5-176817143-G-T SLC34A1 c.936+1770G>T - IntronicSNV - 8/12
1-62970184-T-C DOCK7 c.4671+117A>G - IntronicSNV - 36/48
16-57008508-A-T CETP c.931-505A>T - IntronicSNV - 9/15
16-57008508-A-C CETP c.931-505A>C - IntronicSNV - 9/15
2-169807713-C-T ABCB11 c.2344-6242G>A - IntronicSNV - 19/27
19-11210254-G-C LDLR c.68-645G>C - IntronicSNV - 1/17
14-23863802-G-A MYH6 c.2430-270C>T - IntronicSNV - 20/38
16-57089786-C-T NLRC5 c.3746+355C>T - IntronicSNV - 26/47
20-33923566-A-G UQCC1 c.573+11401T>C - IntronicSNV - 7/9
16-56975277-A-C HERPUD1 c.903-767A>C - IntronicSNV - 6/7
7-44226101-C-T GCK c.45+2407G>A - IntronicSNV - 1/9
7-44226101-C-A GCK c.45+2407G>T - IntronicSNV - 1/9
16-57012699-A-G CETP c.1146+532A>G - IntronicSNV - 11/15
2-169783039-G-T ABCB11 c.3618+627C>A - IntronicSNV - 26/27
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
16-56814325-A-T NUP93 c.298-18063A>T - IntronicSNV - 3/21
6-142679572-G-A ADGRG6 c.104-9134G>A - IntronicSNV - 2/24
20-33974163-T-A UQCC1 c.130-2227A>T - IntronicSNV - 2/9
1-62969431-G-A DOCK7 c.4671+870C>T - IntronicSNV - 36/48
1-62980607-G-A DOCK7 c.3844-1038C>T - IntronicSNV - 30/48
20-33961845-C-A UQCC1 c.406+142G>T - IntronicSNV - 5/9
3-141125186-A-G ZBTB38 c.-1+2313A>G - intron_variant - 7/7
2-169783039-G-C ABCB11 c.3618+627C>G - IntronicSNV - 26/27
2-44081627-T-G ABCG8 c.964+1620T>G - IntronicSNV - 6/12
1-62921422-T-C DOCK7 c.6288-295A>G - IntronicSNV - 48/48
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
1-63041800-T-C DOCK7 c.2112+1133A>G - IntronicSNV - 18/48
1-63041800-T-G DOCK7 c.2112+1133A>C - IntronicSNV - 18/48
8-19810787-C-A LPL c.430-34C>A - IntronicSNV - 3/9
13-28498265-C-G PDX1 c.407-128C>G - IntronicSNV - 1/1
1-63007228-G-A DOCK7 c.2952+1051C>T - IntronicSNV - 24/48
6-142655490-A-C ADGRG6 c.103+24709A>C - IntronicSNV - 2/24
2-169738539-T-A SPC25 c.200-4645A>T - IntronicSNV - 3/6
1-63112320-C-G DOCK7 c.818+1042G>C - IntronicSNV - 7/48
1-63041086-T-C DOCK7 c.2112+1847A>G - IntronicSNV - 18/48
2-169796187-T-C ABCB11 c.2611-3244A>G - IntronicSNV - 21/27
16-53819877-C-T FTO c.46-24175C>T - IntronicSNV - 1/8
16-53819877-C-A FTO c.46-24175C>A - IntronicSNV - 1/8
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
1-63034363-A-C DOCK7 c.2113-6989T>G - IntronicSNV - 18/48
8-19811967-C-T LPL c.775+103C>T - IntronicSNV - 5/9
1-63039533-C-T DOCK7 c.2112+3400G>A - IntronicSNV - 18/48
16-56843443-G-A NUP93 c.489+3899G>A - IntronicSNV - 5/21
1-63103217-A-G DOCK7 c.819-943T>C - IntronicSNV - 7/48
20-33969530-C-G UQCC1 c.333+191G>C - IntronicSNV - 4/9
16-56942921-A-T SLC12A3 c.2952-4255A>T - IntronicSNV - 25/25
7-44265179-G-A CAMK2B c.947-4679C>T - IntronicSNV - 12/15
3-141105570-A-G ZBTB38 c.-416-144A>G - intron_variant - 4/7
5-74787310-T-C COL4A3BP c.231+14497A>G - IntronicSNV - 2/17
2-169796187-T-A ABCB11 c.2611-3244A>T - IntronicSNV - 21/27
3-141133450-G-A ZBTB38 c.-1+10577G>A - intron_variant - 7/7
6-142735816-A-G ADGRG6 c.2458-290A>G - IntronicSNV - 17/24
19-45396144-C-T TOMM40 c.393C>T p.Phe131Phe Synonymous 4/10 -
16-56848871-G-A NUP93 c.490-3705G>A - IntronicSNV - 5/21
2-169794283-G-A ABCB11 c.2611-1340C>T - IntronicSNV - 21/27
2-169782481-A-T ABCB11 c.3619-1168T>A - IntronicSNV - 26/27
1-63108374-A-G DOCK7 c.818+4988T>C - IntronicSNV - 7/48
16-53818834-A-G FTO c.46-25218A>G - IntronicSNV - 1/8
2-169791438-A-G ABCB11 c.3056+256T>C - IntronicSNV - 23/27
1-109800321-C-T CELSR2 c.3311-733C>T - IntronicSNV - 1/33
20-33943281-C-T UQCC1 c.465-8206G>A - IntronicSNV - 6/9
16-67327250-G-A KCTD19 c.2218+197C>T - IntronicSNV - 12/15
16-72097827-C-A HPR c.5+668C>A - IntronicSNV - 1/4
2-169808522-A-T ABCB11 c.2343+5952T>A - IntronicSNV - 19/27
16-72097827-C-T HPR c.5+668C>T - IntronicSNV - 1/4
6-142652416-T-C ADGRG6 c.103+21635T>C - IntronicSNV - 2/24
20-33914701-T-C UQCC1 c.574-12133A>G - IntronicSNV - 7/9
20-33977349-G-A UQCC1 c.129+4546C>T - IntronicSNV - 2/9
16-56996158-T-C CETP c.118+149T>C - IntronicSNV - 1/15
20-44538484-G-T PLTP c.329+97C>A - IntronicSNV - 4/15
1-63031616-A-C DOCK7 c.2113-4242T>G - IntronicSNV - 18/48
3-141102833-G-A ZBTB38 c.-417+2504G>A - intron_variant - 4/7
13-28499962-G-A PDX1 c.*1124G>A - 3-UTRSNV 2/2 -
6-142636740-C-T ADGRG6 c.103+5959C>T - IntronicSNV - 2/24
7-44219338-A-T GCK c.45+9170T>A - IntronicSNV - 1/9
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 -
1-62957758-T-C DOCK7 c.5268+617A>G - IntronicSNV - 40/48
20-33933846-T-C UQCC1 c.573+1121A>G - IntronicSNV - 7/9
7-72857049-A-G BAZ1B c.4094+6T>C - IntronicSNV - 18/19
6-142737504-G-A ADGRG6 c.2854+303G>A - IntronicSNV - 19/24
6-142670862-C-A ADGRG6 c.104-17844C>A - IntronicSNV - 2/24
19-45396219-C-T TOMM40 c.435+33C>T - IntronicSNV - 4/9
20-33947285-C-G UQCC1 c.464+7075G>C - IntronicSNV - 6/9
8-19820933-A-C LPL c.1427+1203A>C - IntronicSNV - 9/9
2-44054991-G-A ABCG5 c.634+131C>T - IntronicSNV - 5/12
19-11209722-C-A LDLR c.68-1177C>A - IntronicSNV - 1/17
2-169780366-T-A ABCB11 c.3766-34A>T - IntronicSNV - 27/27
1-62969402-G-C DOCK7 c.4671+899C>G - IntronicSNV - 36/48
1-62969402-G-A DOCK7 c.4671+899C>T - IntronicSNV - 36/48
6-142636740-C-G ADGRG6 c.103+5959C>G - IntronicSNV - 2/24
1-63029433-A-G DOCK7 c.2113-2059T>C - IntronicSNV - 18/48
20-33985568-C-T UQCC1 c.25-3569G>A - IntronicSNV - 1/9
16-53798622-G-T FTO c.46-45430G>T - IntronicSNV - 1/8
20-33999267-A-G UQCC1 c.24+476T>C - IntronicSNV - 1/9
3-141076084-T-C ZBTB38 c.-738-11379T>C - intron_variant - 1/7
1-63006842-A-C DOCK7 c.2953-1279T>G - IntronicSNV - 24/48
19-45359706-G-A NECTIN2 c.89-8822G>A - IntronicSNV - 1/5
6-142672301-G-A ADGRG6 c.104-16405G>A - IntronicSNV - 2/24
3-141159281-G-A ZBTB38 c.1-1950G>A - IntronicSNV - 4/7
16-56999258-A-C CETP c.233+2222A>C - IntronicSNV - 2/15
8-19821782-T-G LPL c.-1-1039T>G - IntronicSNV - 9/9
20-33913681-A-C UQCC1 c.574-11113T>G - IntronicSNV - 7/9
16-57009932-C-T CETP c.981+869C>T - IntronicSNV - 10/15
1-62957030-G-A DOCK7 c.5268+1345C>T - IntronicSNV - 40/48
2-44054991-G-C ABCG5 c.634+131C>G - IntronicSNV - 5/12
6-142750392-A-G ADGRG6 c.3236-8179A>G - IntronicSNV - 21/24
1-62980161-A-G DOCK7 c.3844-592T>C - IntronicSNV - 30/48
8-19815556-A-T LPL c.1019-1215A>T - IntronicSNV - 6/9
8-19815556-A-G LPL c.1019-1215A>G - IntronicSNV - 6/9
15-58741384-C-T LIPC c.88+17065C>T - IntronicSNV - 1/8
3-170732599-G-A SLC2A2 c.109-79C>T - IntronicSNV - 2/10
1-63111069-G-T DOCK7 c.818+2293C>A - IntronicSNV - 7/48
1-63111069-G-A DOCK7 c.818+2293C>T - IntronicSNV - 7/48
6-160985526-G-A LPA c.4632-6923C>T - IntronicSNV - 28/38
11-67184725-G-A CARNS1 c.-366-153G>A - intron_variant - 1/8
6-142661114-T-A ADGRG6 c.104-27592T>A - IntronicSNV - 2/24
2-169789306-T-A ABCB11 c.3057-263A>T - IntronicSNV - 23/27
1-62907595-A-G USP1 c.292-271A>G - IntronicSNV - 3/8
17-53364788-C-A HLF c.451+19341C>A - IntronicSNV - 2/3
17-53364788-C-G HLF c.451+19341C>G - IntronicSNV - 2/3
1-62984897-C-T DOCK7 c.3844-5328G>A - IntronicSNV - 30/48
2-27741105-A-G GCKR c.1423-550A>G - IntronicSNV - 16/18
7-44245853-A-T YKT6 c.188-131A>T - IntronicSNV - 2/6
2-169802594-C-T ABCB11 c.2344-1123G>A - IntronicSNV - 19/27
2-169802594-C-G ABCB11 c.2344-1123G>C - IntronicSNV - 19/27
1-62924448-C-T DOCK7 c.6120-1072G>A - IntronicSNV - 47/48
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
1-63057136-T-C DOCK7 c.1683-4841A>G - IntronicSNV - 14/48
1-63057136-T-A DOCK7 c.1683-4841A>T - IntronicSNV - 14/48
2-169780961-T-C ABCB11 c.3765+206A>G - IntronicSNV - 27/27
15-89394600-T-C ACAN c.2027-425T>C - IntronicSNV - 10/15
8-19823648-A-T LPL c.*827A>T - 3-UTRSNV 10/10 -
20-33910896-T-C UQCC1 c.574-8328A>G - IntronicSNV - 7/9
20-33970527-A-G UQCC1 c.226-699T>C - IntronicSNV - 3/9
5-176815766-G-C SLC34A1 c.936+393G>C - IntronicSNV - 8/12
15-89396583-G-A ACAN c.2266+1319G>A - IntronicSNV - 11/15
1-63042126-A-G DOCK7 c.2112+807T>C - IntronicSNV - 18/48
16-53797908-C-G FTO c.46-46144C>G - IntronicSNV - 1/8
1-63081919-A-G DOCK7 c.1682+2458T>C - IntronicSNV - 14/48
1-63013396-C-T DOCK7 c.2767-3980G>A - IntronicSNV - 22/48
16-53799985-T-C FTO c.46-44067T>C - IntronicSNV - 1/8
16-53799985-T-A FTO c.46-44067T>A - IntronicSNV - 1/8
8-19808131-G-A LPL c.250-1149G>A - IntronicSNV - 2/9
2-169739098-G-A SPC25 c.200-5204C>T - IntronicSNV - 3/6
20-33970527-A-T UQCC1 c.226-699T>A - IntronicSNV - 3/9
6-126669479-C-A CENPW c.241-133C>A - IntronicSNV - 2/2
16-57014610-T-A CETP c.1147-460T>A - IntronicSNV - 11/15
16-57014610-T-C CETP c.1147-460T>C - IntronicSNV - 11/15
1-63081919-A-T DOCK7 c.1682+2458T>A - IntronicSNV - 14/48
3-141094209-G-A ZBTB38 c.-480+5421G>A - intron_variant - 3/7
14-23861811-A-G MYH6 c.3302T>C p.Val1101Ala Missense 25/39 -
16-53818167-T-C FTO c.46-25885T>C - IntronicSNV - 1/8
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
18-46837578-G-C DYM c.763+20656C>G - IntronicSNV - 8/16
16-53804340-C-T FTO c.46-39712C>T - IntronicSNV - 1/8
14-23863802-G-T MYH6 c.2430-270C>A - IntronicSNV - 20/38
16-53809123-C-T FTO c.46-34929C>T - IntronicSNV - 1/8
2-169810416-T-C ABCB11 c.2343+4058A>G - IntronicSNV - 19/27
15-76158983-G-T UBE2Q2 c.388-2309G>T - IntronicSNV - 3/12
1-109776285-T-C SARS c.748-1547T>C - IntronicSNV - 6/10
20-33951799-G-A UQCC1 c.464+2561C>T - IntronicSNV - 6/9
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
3-1152436-C-T CNTN6 c.-83+17623C>T - intron_variant - 1/22
15-58737341-T-A LIPC c.88+13022T>A - IntronicSNV - 1/8
15-58737341-T-G LIPC c.88+13022T>G - IntronicSNV - 1/8
16-56900931-C-T SLC12A3 c.283-51C>T - IntronicSNV - 1/25
16-53815161-T-A FTO c.46-28891T>A - IntronicSNV - 1/8
2-169758316-G-A G6PC2 c.218+257G>A - IntronicSNV - 1/4
1-62976751-G-A DOCK7 c.4190-407C>T - IntronicSNV - 32/48
1-63112389-A-G DOCK7 c.818+973T>C - IntronicSNV - 7/48
16-57007451-G-A CETP c.930+29G>A - IntronicSNV - 9/15
5-74877803-T-C POLK c.934+530T>C - IntronicSNV - 7/14
16-53840525-C-G FTO c.46-3527C>G - IntronicSNV - 1/8
1-62960101-A-G DOCK7 c.4969T>C p.Leu1657Leu Synonymous 39/49 -
16-56819919-C-T NUP93 c.298-12469C>T - IntronicSNV - 3/21
20-33976474-G-C UQCC1 c.130-4538C>G - IntronicSNV - 2/9
20-33976474-G-A UQCC1 c.130-4538C>T - IntronicSNV - 2/9
16-56846804-C-G NUP93 c.490-5772C>G - IntronicSNV - 5/21
16-57006378-A-G CETP c.750+383A>G - IntronicSNV - 8/15
16-56846804-C-T NUP93 c.490-5772C>T - IntronicSNV - 5/21
2-169810416-T-G ABCB11 c.2343+4058A>C - IntronicSNV - 19/27
2-44087024-C-G ABCG8 c.964+7017C>G - IntronicSNV - 6/12
6-127454893-G-A RSPO3 c.97+14459G>A - IntronicSNV - 1/4
2-44087024-C-A ABCG8 c.964+7017C>A - IntronicSNV - 6/12
2-169730872-C-A SPC25 c.452-679G>T - IntronicSNV - 5/6
16-56839439-C-T NUP93 c.384C>T p.Tyr128Tyr Synonymous 5/22 -
1-63027024-C-A DOCK7 c.2199+264G>T - IntronicSNV - 19/48
1-63027024-C-T DOCK7 c.2199+264G>A - IntronicSNV - 19/48
6-142652416-T-A ADGRG6 c.103+21635T>A - IntronicSNV - 2/24
20-33915571-A-G UQCC1 c.574-13003T>C - IntronicSNV - 7/9
18-47106028-C-T LIPG c.794-1757C>T - IntronicSNV - 5/9
6-142702589-A-T ADGRG6 c.1070-499A>T - IntronicSNV - 4/24
6-142702589-A-C ADGRG6 c.1070-499A>C - IntronicSNV - 4/24
20-33931344-A-G UQCC1 c.573+3623T>C - IntronicSNV - 7/9
16-56976744-G-A HERPUD1 c.1009-294G>A - IntronicSNV - 7/7
6-142681409-G-A ADGRG6 c.104-7297G>A - IntronicSNV - 2/24
8-19820433-T-C LPL c.1427+703T>C - IntronicSNV - 9/9
7-44222802-C-T GCK c.45+5706G>A - IntronicSNV - 1/9
15-89386224-T-C ACAN c.758-362T>C - IntronicSNV - 5/15
20-33896262-C-G UQCC1 c.652-1680G>C - IntronicSNV - 8/9
20-33982435-G-A UQCC1 c.25-436C>T - IntronicSNV - 1/9
11-64334114-C-T SLC22A11 c.1059-957C>T - IntronicSNV - 6/9
19-45400747-T-A TOMM40 c.644-3240T>A - IntronicSNV - 6/9
19-11207102-T-C LDLR c.68-3797T>C - IntronicSNV - 1/17
6-142666861-T-C ADGRG6 c.104-21845T>C - IntronicSNV - 2/24
3-141145319-C-T ZBTB38 c.1-15912C>T - IntronicSNV - 1/7
16-53806453-A-T FTO c.46-37599A>T - IntronicSNV - 1/8
8-19819328-T-C LPL c.1323-298T>C - IntronicSNV - 8/9
2-21265518-A-T APOB c.122-170T>A - IntronicSNV - 2/28
16-53806453-A-G FTO c.46-37599A>G - IntronicSNV - 1/8
2-169799010-A-G ABCB11 c.2610+2105T>C - IntronicSNV - 21/27
6-142752595-G-A ADGRG6 c.3236-5976G>A - IntronicSNV - 21/24
16-57006829-T-A CETP c.751-414T>A - IntronicSNV - 8/15
1-63050598-T-G DOCK7 c.1800+1580A>C - IntronicSNV - 15/48
20-33982846-G-A UQCC1 c.25-847C>T - IntronicSNV - 1/9
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
6-142701158-A-G ADGRG6 c.1070-1930A>G - IntronicSNV - 4/24
1-234420503-G-C SLC35F3 c.609-24344G>C - IntronicSNV - 3/7
1-63007182-C-T DOCK7 c.2952+1097G>A - IntronicSNV - 24/48
1-62912919-C-T USP1 c.1250-93C>T - IntronicSNV - 6/8
1-62977558-A-T DOCK7 c.4190-1214T>A - IntronicSNV - 32/48
3-141106063-T-A ZBTB38 c.-351+284T>A - intron_variant - 5/7
8-19812812-C-T LPL c.776-540C>T - IntronicSNV - 5/9
2-169801488-A-T ABCB11 c.2344-17T>A - IntronicSNV - 19/27
5-74879890-G-A POLK c.1059+648G>A - IntronicSNV - 8/14
2-169763804-T-C G6PC2 c.557-274T>C - IntronicSNV - 4/4
3-141095724-G-A ZBTB38 c.-479-4543G>A - intron_variant - 3/7
19-45357291-G-C NECTIN2 c.88+7421G>C - IntronicSNV - 1/5
1-62992749-T-C DOCK7 c.3843+1073A>G - IntronicSNV - 30/48
1-62977558-A-C DOCK7 c.4190-1214T>G - IntronicSNV - 32/48
1-63128325-A-G DOCK7 c.144+371T>C - IntronicSNV - 2/48
16-53805207-C-A FTO c.46-38845C>A - IntronicSNV - 1/8
7-44245060-T-C YKT6 c.187+811T>C - IntronicSNV - 2/6
3-141106063-T-C ZBTB38 c.-351+284T>C - intron_variant - 5/7
19-45357291-G-A NECTIN2 c.88+7421G>A - IntronicSNV - 1/5
1-63026011-C-T DOCK7 c.2200-1120G>A - IntronicSNV - 19/48
1-63049819-G-A DOCK7 c.1801-894C>T - IntronicSNV - 15/48
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
1-63001120-A-C DOCK7 c.3518+44T>G - IntronicSNV - 28/48
20-33975181-C-A UQCC1 c.130-3245G>T - IntronicSNV - 2/9
6-142655238-G-A ADGRG6 c.103+24457G>A - IntronicSNV - 2/24
7-151406005-C-T PRKAG2 c.467-33282G>A - IntronicSNV - 3/15
1-62934308-A-G DOCK7 c.6119+5345T>C - IntronicSNV - 47/48
19-45395909-C-G TOMM40 c.343-185C>G - IntronicSNV - 3/9
16-56908045-C-T SLC12A3 c.1095+1347C>T - IntronicSNV - 8/25
15-58741177-C-G LIPC c.88+16858C>G - IntronicSNV - 1/8
1-62943954-G-A DOCK7 c.5416-458C>T - IntronicSNV - 42/48
16-56866196-T-C NUP93 c.1252-11T>C - IntronicSNV - 11/21
2-169779896-T-A ABCB11 c.*236A>T - 3-UTRSNV 28/28 -
2-169779896-T-C ABCB11 c.*236A>G - 3-UTRSNV 28/28 -
2-169779896-T-G ABCB11 c.*236A>C - 3-UTRSNV 28/28 -
2-169784955-A-C ABCB11 c.3412-1083T>G - IntronicSNV - 25/27
16-53821690-A-G FTO c.46-22362A>G - IntronicSNV - 1/8
7-44219705-T-C GCK c.45+8803A>G - IntronicSNV - 1/9
20-33958253-A-T UQCC1 c.406+3734T>A - IntronicSNV - 5/9
2-44084600-A-T ABCG8 c.964+4593A>T - IntronicSNV - 6/12
16-53822237-A-G FTO c.46-21815A>G - IntronicSNV - 1/8
7-151415536-C-T PRKAG2 c.467-42813G>A - IntronicSNV - 3/15
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
6-142668901-T-C ADGRG6 c.104-19805T>C - IntronicSNV - 2/24
20-33909784-C-T UQCC1 c.574-7216G>A - IntronicSNV - 7/9
1-63046039-T-C DOCK7 c.1872-1402A>G - IntronicSNV - 16/48
6-142707133-T-G ADGRG6 c.1138+3977T>G - IntronicSNV - 5/24
16-56908703-C-G SLC12A3 c.1095+2005C>G - IntronicSNV - 8/25
2-44086591-G-T ABCG8 c.964+6584G>T - IntronicSNV - 6/12
16-53815161-T-G FTO c.46-28891T>G - IntronicSNV - 1/8
2-169789575-C-T ABCB11 c.3057-532G>A - IntronicSNV - 23/27
16-57011185-G-A CETP c.982-818G>A - IntronicSNV - 10/15
15-58735005-A-G LIPC c.88+10686A>G - IntronicSNV - 1/8
19-45379060-A-T NECTIN2 c.1042+1325A>T - IntronicSNV - 5/5
19-45379060-A-C NECTIN2 c.1042+1325A>C - IntronicSNV - 5/5
1-63093617-C-T DOCK7 c.1283-2545G>A - IntronicSNV - 11/48
1-62934846-G-A DOCK7 c.6119+4807C>T - IntronicSNV - 47/48
2-169779156-G-A ABCB11 c.*976C>T - IntergenicSNV 28/28 -
1-62982994-G-A DOCK7 c.3844-3425C>T - IntronicSNV - 30/48
15-58741891-A-G LIPC c.88+17572A>G - IntronicSNV - 1/8
19-45299199-G-T CBLC c.1362+1661G>T - IntronicSNV - 9/10
2-169743887-A-G SPC25 c.199+1849T>C - IntronicSNV - 3/6
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
1-62933758-G-A DOCK7 c.6119+5895C>T - IntronicSNV - 47/48
16-57011452-G-A CETP c.982-551G>A - IntronicSNV - 10/15
2-169789720-T-C ABCB11 c.3057-677A>G - IntronicSNV - 23/27
1-63147040-A-C DOCK7 c.38+6858T>G - IntronicSNV - 1/48
20-33973378-G-A UQCC1 c.130-1442C>T - IntronicSNV - 2/9
15-89391617-A-G ACAN c.1732+348A>G - IntronicSNV - 9/15
16-53830452-A-G FTO c.46-13600A>G - IntronicSNV - 1/8
19-45299199-G-A CBLC c.1362+1661G>A - IntronicSNV - 9/10
2-169743887-A-T SPC25 c.199+1849T>A - IntronicSNV - 3/6
19-45255679-G-C BCL3 c.410+1042G>C - IntronicSNV - 2/8
8-19816371-T-C LPL c.1019-400T>C - IntronicSNV - 6/9
16-56769902-A-G NUP93 c.-15+5779A>G - intron_variant - 1/21
19-45169408-A-T PVR c.*4329A>T - 3_prime_UTR_variant 8/8 -
20-33905619-G-A UQCC1 c.574-3051C>T - IntronicSNV - 7/9