PMID: 31872004

Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data in brief
A Totomoch-Serra, MG Domínguez-Cruz, ML Muñoz, MG García-Escalante, J Burgueño, Á Díaz-Badillo, N Valadez-González, DP Escalante
2020-02

572 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-32400266-A-G ZFR c.1559T>C p.Ile520Thr Missense 9/20 -
10-7339064-C-T SFMBT2 c.437-11148G>A - IntronicSNV - 4/20
15-82460440-A-T EFL1 c.1751-4115T>A - IntronicSNV - 15/19
2-75875317-A-T MRPL19 c.221+972A>T - IntronicSNV - 2/5
2-97489870-C-A CNNM3 c.1226-925C>A - IntronicSNV - 1/7
3-38958010-G-T SCN11A c.959+3416C>A - IntronicSNV - 7/25
15-23000272-A-G CYFIP1 c.3597+29A>G - IntronicSNV - 30/30
11-8016730-T-C EIF3F c.882+65T>C - IntronicSNV - 6/7
16-19278625-G-C SYT17 c.*227G>C - IntergenicSNV 8/8 -
2-26653457-G-A DRC1 c.679-197G>A - IntronicSNV - 5/16
1-99751518-G-A PLPPR4 c.223-2003G>A - IntronicSNV - 1/6
1-120455441-A-G NOTCH2 c.*2488T>C - 3-UTRSNV 34/34 -
11-124890396-T-A CCDC15 c.2411+15288T>A - IntronicSNV - 13/15
3-54897483-G-T CACNA2D3 c.1627-8083G>T - IntronicSNV - 17/37
15-87119340-G-A AGBL1 c.3057+19824G>A - intron_variant - 22/24
1-120455441-A-C NOTCH2 c.*2488T>G - 3-UTRSNV 34/34 -
20-48180058-A-T PTGIS c.74+4522T>A - IntronicSNV - 1/9
1-175495090-C-T TNR c.-64+2315G>A - intron_variant - 2/22
9-15192720-A-G TTC39B c.825-27T>C - IntronicSNV - 8/19
7-139089928-T-G LUC7L2 c.367-462T>G - IntronicSNV - 4/9
2-43732823-T-C THADA c.3559A>G p.Thr1187Ala Missense 24/38 -
1-190256835-A-G BRINP3 c.237-5955T>C - IntronicSNV - 2/7
11-45264277-C-T SYT13 c.*1326G>A - 3-UTRSNV 6/6 -
3-173198359-T-A NLGN1 c.-321+45491T>A - intron_variant - 2/6
4-23815662-C-T PPARGC1A c.1444G>A p.Gly482Ser Missense 8/13 -
11-88258689-C-T GRM5 c.2631-16017G>A - IntronicSNV - 8/8
2-141751461-C-A LRP1B c.2644+103G>T - IntronicSNV - 16/90
3-124192674-C-A KALRN c.4026-836C>A - IntronicSNV - 25/33
2-141751461-C-T LRP1B c.2644+103G>A - IntronicSNV - 16/90
3-173198359-T-G NLGN1 c.-321+45491T>G - intron_variant - 2/6
7-126772602-G-A GRM8 c.511-25836C>T - IntronicSNV - 2/10
12-93813902-A-G UBE2N c.31-8827T>C - IntronicSNV - 1/3
7-126772602-G-C GRM8 c.511-25836C>G - IntronicSNV - 2/10
12-79403715-T-C SYT1 c.-84+32004T>C - intron_variant - 2/10
15-99855009-G-T LRRC28 c.386-19119G>T - IntronicSNV - 5/9
6-118263296-G-A SLC35F1 c.173+34234G>A - IntronicSNV - 1/7
9-101318075-T-G GABBR2 c.460-13750A>C - IntronicSNV - 2/18
4-91661745-A-G CCSER1 c.2010+16603A>G - IntronicSNV - 7/10
2-48038331-G-A FBXO11 c.1976-766C>T - IntronicSNV - 18/22
1-92172608-A-G TGFBR3 c.2287+1612T>C - IntronicSNV - 14/16
7-151064422-A-G NUB1 c.1059+211A>G - IntronicSNV - 9/14
17-28246358-A-G SSH2 c.63+10598T>C - IntronicSNV - 1/14
2-80716691-G-A CTNNA2 c.1291-55416G>A - IntronicSNV - 9/17
2-144146850-G-A ARHGAP15 c.475-46320G>A - IntronicSNV - 6/13
9-19294073-C-T DENND4C c.802-1933C>T - IntronicSNV - 5/31
2-206247450-T-C PARD3B c.2424-18287T>C - IntronicSNV - 17/21
16-74921446-T-C WDR59 c.2419+135A>G - IntronicSNV - 23/25
11-74883577-G-A SLCO2B1 c.935G>A p.Arg312Gln Missense 7/14 -
7-133709787-T-C EXOC4 c.2687+17199T>C - IntronicSNV - 17/17
11-57925977-C-T OR9Q1 c.1-20940C>T - IntronicSNV - 2/2
2-29538411-G-A ALK c.1647+2759C>T - IntronicSNV - 8/28
8-4190793-C-A CSMD1 c.415+86682G>T - IntronicSNV - 3/69
7-147650273-T-C CNTNAP2 c.2256-24681T>C - IntronicSNV - 14/23
3-19946057-G-A EFHB c.1418+1055C>T - IntronicSNV - 6/12
8-22154133-T-C PIWIL2 c.1181+6274T>C - IntronicSNV - 10/22
1-156538730-T-C IQGAP3 c.125+438A>G - IntronicSNV - 2/37
1-156538730-T-A IQGAP3 c.125+438A>T - IntronicSNV - 2/37
4-78981919-A-G FRAS1 c.76+2680A>G - IntronicSNV - 1/41
6-70828336-T-C COL19A1 c.1279-3436T>C - IntronicSNV - 16/50
2-27741237-T-C GCKR c.1423-418T>C - IntronicSNV - 16/18
11-101452331-C-T TRPC6 c.170+1734G>A - IntronicSNV - 1/12
9-128420381-C-T MAPKAP1 c.350-303G>A - IntronicSNV - 3/11
17-36614563-C-T ARHGAP23 c.225+56C>T - IntronicSNV - 2/23
1-60281712-A-G HOOK1 c.63+860A>G - IntronicSNV - 1/21
15-27402547-A-G GABRG3 c.270+130579A>G - IntronicSNV - 3/5
12-116634170-G-C MED13L c.310+41103C>G - IntronicSNV - 2/30
12-116634170-G-T MED13L c.310+41103C>A - IntronicSNV - 2/30
7-36480876-C-T ANLN c.2970+1977C>T - IntronicSNV - 21/23
7-36480876-C-G ANLN c.2970+1977C>G - IntronicSNV - 21/23
3-45572257-A-T LARS2 c.2404+6657A>T - IntronicSNV - 20/21
3-45572257-A-G LARS2 c.2404+6657A>G - IntronicSNV - 20/21
1-197126649-G-A ZBTB41 c.*1840C>T - 3-UTRSNV 10/10 -
13-93112987-A-G GPC5 c.1561+315745A>G - IntronicSNV - 7/7
11-55703650-A-G OR5I1 c.227T>C p.Phe76Ser Missense 1/1 -
8-88117846-A-G CNBD1 c.432-100375A>G - IntronicSNV - 4/10
3-140140442-C-T CLSTN2 c.787+326C>T - IntronicSNV - 5/16
2-46314935-C-A PRKCE c.1592+1434C>A - IntronicSNV - 11/14
2-152496526-A-G NEB c.8734T>C p.Ser2912Pro Missense 62/150 -
11-14757095-G-T PDE3B c.979-36388G>T - IntronicSNV - 1/15
1-216682448-G-A ESRRG c.1064-1923C>T - IntronicSNV - 7/7
17-59314257-A-T BCAS3 c.2426-131431A>T - IntronicSNV - 22/23
16-1691106-T-C CRAMP1 c.779-34T>C - IntronicSNV - 5/20
6-20661034-A-C CDKAL1 c.371+11426A>C - IntronicSNV - 5/15
4-102184626-C-T PPP3CA c.59-67353G>A - IntronicSNV - 1/13
3-15621143-G-A HACL1 c.803+274C>T - IntronicSNV - 9/16
14-62213848-T-C HIF1A c.*45T>C - 3-UTRSNV 15/15 -
20-34074831-A-G CEP250 c.2587-3632A>G - IntronicSNV - 20/34
9-12780295-C-T LURAP1L c.312+4269C>T - IntronicSNV - 1/1
1-94523113-G-A ABCA4 c.2161-735C>T - IntronicSNV - 14/49
2-142784277-C-T LRP1B c.82+103940G>A - IntronicSNV - 1/90
6-144758799-A-G UTRN c.1158A>G p.Glu386Glu Synonymous 10/74 -
17-47747648-C-T SPOP c.-67+5609G>A - intron_variant - 2/10
2-179606538-G-A TTN c.10361-3451C>T - IntronicSNV - 45/311
10-70931474-C-T VPS26A c.*449C>T - 3-UTRSNV 9/9 -
7-34873776-G-A NPSR1 c.681-220G>A - IntronicSNV - 5/8
6-121528926-G-A TBC1D32 c.2482-2617C>T - IntronicSNV - 21/31
15-99855009-G-A LRRC28 c.386-19119G>A - IntronicSNV - 5/9
6-129646565-A-C LAMA2 c.4177-2858A>C - IntronicSNV - 28/64
19-44613661-A-C ZNF224 c.*1224A>C - IntergenicSNV 6/6 -
11-28255053-A-C METTL15 c.407+22308A>C - IntronicSNV - 4/7
15-27706279-G-A GABRG3 c.575-19517G>A - IntronicSNV - 5/5
11-35403124-C-T SLC1A2 c.17+37373G>A - IntronicSNV - 1/10
10-114808902-G-T TCF7L2 c.483+9017G>T - IntronicSNV - 4/13
10-114808902-G-A TCF7L2 c.483+9017G>A - IntronicSNV - 4/13
2-97489870-C-T CNNM3 c.1226-925C>T - IntronicSNV - 1/7
11-132964299-G-A OPCML c.62-151394C>T - IntronicSNV - 1/7
3-186937037-G-T MASP1 c.*822C>A - 3-UTRSNV 16/16 -
4-25863375-G-T SEL1L3 c.162+922C>A - IntronicSNV - 1/23
1-159174683-T-C ACKR1 c.1-67T>C - 5-UTRSNV 1/2 -
3-169058009-G-A MECOM c.375+40966C>T - IntronicSNV - 2/16
2-158667217-T-C ACVR1 c.-8+7680A>G - intron_variant - 2/10
3-186937037-G-A MASP1 c.*822C>T - 3-UTRSNV 16/16 -
10-114756041-A-T TCF7L2 c.382-43743A>T - IntronicSNV - 3/13
3-100244825-G-A TMEM45A c.1-29231G>A - IntronicSNV - 1/5
3-24327558-T-C THRB c.-43+51233A>G - intron_variant - 2/9
14-64528071-G-A SYNE2 c.10068-1398G>A - IntronicSNV - 49/115
15-66772007-C-T MAP2K1 c.569-2086C>T - IntronicSNV - 5/10
11-14757095-G-A PDE3B c.979-36388G>A - IntronicSNV - 1/15
3-9798773-C-G OGG1 c.948+273C>G - IntronicSNV - 6/6
2-204802578-T-C ICOS c.58+983T>C - IntronicSNV - 1/4
7-107932915-C-T NRCAM c.-107+20194G>A - intron_variant - 3/32
16-53820527-T-A FTO c.46-23525T>A - IntronicSNV - 1/8
10-129158853-G-A DOCK1 c.3221-1475G>A - intron_variant - 32/51
7-28189411-T-C JAZF1 c.115+30671A>G - IntronicSNV - 1/4
22-28847006-T-C TTC28 c.382-144375A>G - IntronicSNV - 2/22
7-12669251-G-A SCIN c.578+404G>A - IntronicSNV - 7/13
6-126284213-A-T HINT3 c.202-3820A>T - IntronicSNV - 1/4
20-13234124-T-G ISM1 c.139-17027T>G - IntronicSNV - 1/5
2-102955468-C-A IL1RL1 c.233C>A p.Ala78Glu Missense 3/11 -
7-88591502-T-A ZNF804B c.108+202104T>A - IntronicSNV - 1/3
13-25900838-C-T NUP58 c.996-216C>T - IntronicSNV - 9/14
10-14698952-C-A FAM107B c.469+10681G>T - IntronicSNV - 2/4
10-20516587-C-T PLXDC2 c.1312+8556C>T - IntronicSNV - 12/13
10-20516587-C-G PLXDC2 c.1312+8556C>G - IntronicSNV - 12/13
7-88591502-T-G ZNF804B c.108+202104T>G - IntronicSNV - 1/3
6-145004411-C-T UTRN c.7652+4697C>T - IntronicSNV - 51/73
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
6-6642405-G-A LY86 c.353-7453G>A - IntronicSNV - 3/4
1-66613479-G-T PDE4B c.282-99664G>T - IntronicSNV - 3/16
12-19299390-C-T PLEKHA5 c.227+14006C>T - IntronicSNV - 3/25
10-83996992-T-G NRG3 c.824-121503T>G - IntronicSNV - 1/8
21-32810899-C-A TIAM1 c.-369+25397G>T - intron_variant - 2/28
1-245388149-C-T KIF26B c.465+68164C>T - IntronicSNV - 2/14
18-40500066-A-G RIT2 c.426+3471T>C - IntronicSNV - 4/4
11-128382804-G-A ETS1 c.82+9004C>T - IntronicSNV - 1/7
14-52135356-G-A FRMD6 c.-147+16642G>A - intron_variant - 1/13
2-210392711-G-A MAP2 c.-172+20346G>A - intron_variant - 2/14
15-89654269-A-G ABHD2 c.1-5290A>G - IntronicSNV - 2/14
7-78777397-T-C MAGI2 c.302-140875A>G - IntronicSNV - 1/21
2-212558540-C-T ERBB4 c.1489+8152G>A - IntronicSNV - 12/26
11-108163487-C-T ATM c.4578C>T p.Pro1526Pro Synonymous 30/63 -
2-40387489-A-G SLC8A1 c.2269+416T>C - IntronicSNV - 9/10
8-118185733-A-G SLC30A8 c.*813A>G - 3-UTRSNV 8/8 -
13-52303139-T-C WDFY2 c.598+1213T>C - IntronicSNV - 6/11
12-20586821-A-G PDE3A c.960+63643A>G - IntronicSNV - 1/15
21-43420555-C-A ZBTB21 c.1-6351G>T - IntronicSNV - 1/1
4-186617593-C-T SORBS2 c.1-5868G>A - IntronicSNV - 2/22
5-128803345-G-A ADAMTS19 c.747+5895G>A - intron_variant - 2/22
17-62157307-T-C ERN1 c.210-213A>G - IntronicSNV - 3/21
11-118967758-T-C DPAGT1 c.1177A>G p.Ile393Val Missense 9/9 -
14-55222475-T-C SAMD4A c.1176+4220T>C - IntronicSNV - 6/12
4-139956970-G-T NOCT c.191-7258G>T - IntronicSNV - 1/2
18-44134616-G-A LOXHD1 c.3350+2703C>T - IntronicSNV - 21/39
2-121631384-T-C GLI2 c.149-53553T>C - IntronicSNV - 2/13
2-44104925-T-A ABCG8 c.1895T>A p.Val632Asp Missense 13/13 -
2-44104925-T-G ABCG8 c.1895T>G p.Val632Gly Missense 13/13 -
14-55222475-T-A SAMD4A c.1176+4220T>A - IntronicSNV - 6/12
12-107210453-A-G RIC8B c.741+1371A>G - IntronicSNV - 3/8
9-4836811-C-G RCL1 c.584+2546C>G - IntronicSNV - 5/8
15-91521337-C-A PRC1 c.1107+1051G>T - IntronicSNV - 8/14
9-4836811-C-T RCL1 c.584+2546C>T - IntronicSNV - 5/8
12-118021755-G-A KSR2 c.1172-1591C>T - intron_variant - 5/19
15-64962630-A-C ZNF609 c.1059A>C p.Pro353Pro Synonymous 4/10 -
6-42282393-A-G TRERF1 c.-370-13906T>C - intron_variant - 3/17
17-9164548-G-A STX8 c.644-10586C>T - IntronicSNV - 7/7
8-56059868-G-A XKR4 c.806+44014G>A - IntronicSNV - 1/2
9-124109921-C-T STOM c.660+372G>A - IntronicSNV - 6/6
8-4190793-C-T CSMD1 c.415+86682G>A - IntronicSNV - 3/69
2-233999081-A-G INPP5D c.663+3725A>G - IntergenicSNV - 5/27
15-74332188-C-A PML c.1711-3142C>A - IntronicSNV - 7/7
15-74332188-C-T PML c.1711-3142C>T - IntronicSNV - 7/7
14-58698338-T-C ACTR10 c.871-446T>C - IntronicSNV - 11/12
9-132771351-A-T FNBP1 c.25-14114T>A - IntronicSNV - 1/16
5-16807786-A-C MYO10 c.279+10332T>G - IntronicSNV - 3/40
9-132771351-A-G FNBP1 c.25-14114T>C - IntronicSNV - 1/16
5-54276104-G-T ESM1 c.452-841C>A - IntronicSNV - 2/2
1-171972317-A-C DNM3 c.589+14029A>C - IntronicSNV - 4/20
8-38804226-C-T PLEKHA2 c.345+487C>T - IntronicSNV - 5/12
15-79610215-C-G TMED3 c.417+3868C>G - IntronicSNV - 2/2
15-79610215-C-T TMED3 c.417+3868C>T - IntronicSNV - 2/2
8-41121280-T-C SFRP1 c.*1406A>G - 3-UTRSNV 3/3 -
6-124526649-C-T NKAIN2 c.55-77502C>T - IntronicSNV - 1/6
13-111827167-T-C ARHGEF7 c.315+15731T>C - IntronicSNV - 3/19
13-111827167-T-A ARHGEF7 c.315+15731T>A - IntronicSNV - 3/19
6-126284213-A-G HINT3 c.202-3820A>G - IntronicSNV - 1/4
5-90350998-T-C ADGRV1 c.18153-17266T>C - IntronicSNV - 85/89
2-240279945-G-A HDAC4 c.1-5551C>T - IntronicSNV - 1/26
2-8968446-G-A KIDINS220 c.1-1223C>T - IntronicSNV - 1/29
1-145730160-A-G PDZK1 c.-74+2411A>G - intron_variant - 1/9
7-29314083-C-A CHN2 c.49+79477C>A - IntronicSNV - 1/12
19-53278953-A-G ZNF600 c.-18+3126T>C - intron_variant - 2/2
1-72015414-G-A NEGR1 c.940+43086C>T - IntronicSNV - 6/6
10-56177015-C-T PCDH15 c.158-38313G>A - IntronicSNV - 3/32
12-30886435-G-A CAPRIN2 c.892+128C>T - IntronicSNV - 5/16
1-72015414-G-T NEGR1 c.940+43086C>A - IntronicSNV - 6/6
6-110657142-G-A METTL24 c.319-13067C>T - IntronicSNV - 1/4
6-110657142-G-T METTL24 c.319-13067C>A - IntronicSNV - 1/4
19-43374601-A-G PSG1 c.709+1318T>C - IntronicSNV - 3/5
16-25851191-A-C HS3ST4 c.734+146719A>C - IntronicSNV - 1/1
6-143939639-G-A PHACTR2 c.13+10180G>A - IntronicSNV - 1/12
6-151418320-A-G MTHFD1L c.*32-4342A>G - intron_variant - 27/27
2-203750049-T-C WDR12 c.742-791A>G - IntronicSNV - 8/12
4-6292915-A-G WFS1 c.461-9A>G - IntronicSNV - 4/7
12-55373780-C-T TESPA1 c.-46+1778G>A - intron_variant - 1/10
15-52506655-C-T MYO5C c.4042+145G>A - IntronicSNV - 33/40
3-169190907-G-A MECOM c.38-91595C>T - IntronicSNV - 1/16
3-71235982-C-T FOXP1 c.180+11371G>A - IntronicSNV - 6/20
8-133202844-G-A KCNQ3 c.387-4416C>T - IntronicSNV - 1/14
15-40038433-T-C FSIP1 c.560-4332A>G - IntronicSNV - 5/11
9-8361445-T-C PTPRD c.3431+14491A>G - IntronicSNV - 23/29
16-19278625-G-A SYT17 c.*227G>A - IntergenicSNV 8/8 -
9-28055900-C-T LINGO2 c.-86-43497G>A - intron_variant - 5/6
10-114756041-A-G TCF7L2 c.382-43743A>G - IntronicSNV - 3/13
4-41565887-G-A LIMCH1 c.238-35050G>A - IntronicSNV - 3/26
4-46890143-C-T COX7B2 c.-105+21034G>A - intron_variant - 1/2
14-68035879-A-G PLEKHH1 c.1288A>G p.Thr430Ala Missense 8/29 -
12-13846673-T-C GRIN2B c.1011-17880A>G - IntronicSNV - 3/12
6-155540230-G-C TIAM2 c.3168+7789G>C - IntronicSNV - 14/25
22-31208544-G-A OSBP2 c.854-57872G>A - IntronicSNV - 2/13
6-155540230-G-A TIAM2 c.3168+7789G>A - IntronicSNV - 14/25
22-32272658-G-T DEPDC5 c.3712+407G>T - IntronicSNV - 36/41
22-32272658-G-C DEPDC5 c.3712+407G>C - IntronicSNV - 36/41
12-119443713-C-T SRRM4 c.131+23895C>T - IntronicSNV - 1/12
11-121430872-C-T SORL1 c.3049+506C>T - IntronicSNV - 21/47
1-232590866-A-G SIPA1L2 c.3095+5767T>C - IntronicSNV - 8/20
1-201821443-T-C IPO9 c.603+123T>C - IntronicSNV - 5/23
20-48180058-A-G PTGIS c.74+4522T>C - IntronicSNV - 1/9
11-93259965-A-C SMCO4 c.-154+16477T>G - intron_variant - 1/2
7-114313199-A-G FOXP2 c.2003+8708A>G - IntronicSNV - 16/16
11-84146142-C-T DLG2 c.204+99471G>A - IntronicSNV - 2/22
7-155099855-C-A INSIG1 c.420-96C>A - IntronicSNV - 5/5
10-95190568-C-T MYOF c.345+597G>A - IntronicSNV - 4/53
10-95190568-C-A MYOF c.345+597G>T - IntronicSNV - 4/53
20-18725724-T-C DTD1 c.*828T>C - IntronicSNV - 5/5
1-243492643-C-T SDCCAG8 c.1069-1199C>T - IntronicSNV - 9/17
16-21017270-T-C DNAH3 c.6023-2741A>G - IntronicSNV - 41/61
11-115312071-T-C CADM1 c.124+62918A>G - IntronicSNV - 1/9
12-71539646-C-A TSPAN8 c.61-1653G>T - IntronicSNV - 2/8
11-120644447-A-C GRIK4 c.83-28955A>C - IntronicSNV - 3/20
15-58344290-C-T ALDH1A2 c.54+5920G>A - IntronicSNV - 2/13
13-99361959-G-A SLC15A1 c.978+37C>T - IntronicSNV - 13/22
8-15559730-G-T TUSC3 c.798+28385G>T - IntronicSNV - 6/10
8-15559730-G-A TUSC3 c.798+28385G>A - IntronicSNV - 6/10
12-116634170-G-A MED13L c.310+41103C>T - IntronicSNV - 2/30
15-60907766-C-A RORA c.196+63090G>T - IntronicSNV - 2/10
16-25995418-C-T HS3ST4 c.735-151515C>T - IntronicSNV - 1/1
4-15380517-T-G C1QTNF7 c.13+38686T>G - IntronicSNV - 1/2
4-15722573-C-T BST1 c.792-1925C>T - IntronicSNV - 7/8
12-83249247-A-C TMTC2 c.84-1542A>C - IntronicSNV - 1/11
1-240693711-C-T GREM2 c.1-36936G>A - IntronicSNV - 1/1
19-44613661-A-T ZNF224 c.*1224A>T - IntergenicSNV 6/6 -
1-151520731-A-T TUFT1 c.60+7829A>T - IntronicSNV - 1/12
3-65910218-T-C MAGI1 c.313+113453A>G - IntronicSNV - 1/22
1-151520731-A-G TUFT1 c.60+7829A>G - IntronicSNV - 1/12
11-12946203-G-T TEAD1 c.874-256G>T - IntronicSNV - 10/12
9-125391127-C-T OR1B1 c.688G>A p.Ala230Thr Missense 1/1 -
9-125391127-C-A OR1B1 c.688G>T p.Ala230Ser Missense 1/1 -
15-53878948-T-C WDR72 c.3148+10328A>G - IntronicSNV - 18/19
18-50620087-A-G DCC c.1261+27551A>G - IntronicSNV - 7/28
18-6986714-G-A LAMA1 c.5169-368C>T - IntronicSNV - 36/62
22-29503955-T-C KREMEN1 c.352+9014T>C - IntronicSNV - 3/8
2-50190353-G-A NRXN1 c.4249-19424C>T - IntronicSNV - 22/23
2-50190353-G-C NRXN1 c.4249-19424C>G - IntronicSNV - 22/23
2-50190353-G-T NRXN1 c.4249-19424C>A - IntronicSNV - 22/23
1-114501968-A-G HIPK1 c.1981+1055A>G - IntronicSNV - 8/15
2-37024713-A-G VIT c.1014-3731A>G - IntronicSNV - 11/14
5-96372165-G-A LNPEP c.*7928G>A - IntergenicSNV 18/18 -
1-240742905-G-T GREM2 c.-2+32279C>A - intron_variant - 1/1
6-42197916-G-A TRERF1 c.3279-1509C>T - IntronicSNV - 17/17
18-60028655-A-C TNFRSF11A c.617-258A>C - IntronicSNV - 6/8
13-95849176-C-A ABCC4 c.1162-1985G>T - IntronicSNV - 8/30
2-39332093-A-C SOS1 c.87+15384T>G - IntronicSNV - 1/22
5-11423592-T-C CTNND2 c.288-11411A>G - IntronicSNV - 3/21
13-94051114-T-C GPC6 c.161-146402T>C - IntronicSNV - 1/8
4-72341864-C-T SLC4A4 c.1771+3177C>T - IntronicSNV - 11/22
16-10975311-T-G CIITA c.52+4072T>G - IntronicSNV - 1/19
4-77675505-C-A SHROOM3 c.3869C>A p.Pro1290Gln Missense 7/11 -
5-53300662-A-G ARL15 c.462+108370T>C - IntronicSNV - 4/4
6-96490089-T-A FUT9 c.-98+26001T>A - intron_variant - 1/2
6-96490089-T-C FUT9 c.-98+26001T>C - intron_variant - 1/2
3-167497444-A-G SERPINI1 c.1-9473A>G - IntronicSNV - 1/8
12-109017898-C-T SELPLG c.234G>A p.Met78Ile Missense 2/2 -
5-82811500-A-T VCAN c.1042+3285A>T - IntronicSNV - 6/14
5-82811500-A-G VCAN c.1042+3285A>G - IntronicSNV - 6/14
8-133325922-T-C KCNQ3 c.387-127494A>G - IntronicSNV - 1/14
8-133325922-T-A KCNQ3 c.387-127494A>T - IntronicSNV - 1/14
12-40307598-T-C SLC2A13 c.1034+37461A>G - IntronicSNV - 4/9
12-40307598-T-A SLC2A13 c.1034+37461A>T - IntronicSNV - 4/9
4-163030012-T-A FSTL5 c.126+2411A>T - IntronicSNV - 2/15
4-163030012-T-C FSTL5 c.126+2411A>G - IntronicSNV - 2/15
15-49216723-G-T SHC4 c.656+353C>A - IntronicSNV - 2/11
15-86010345-A-C AKAP13 c.1-18607A>C - IntronicSNV - 1/36
3-18391478-T-C SATB1 c.1780-304A>G - IntronicSNV - 10/10
8-118184783-C-A SLC30A8 c.973C>A p.Arg325Arg Synonymous 8/8 -
7-49838522-T-A VWC2 c.697-3785T>A - IntronicSNV - 2/3
7-49838522-T-C VWC2 c.697-3785T>C - IntronicSNV - 2/3
2-202122995-A-G CASP8 c.1-8215A>G - IntronicSNV - 2/9
13-72438081-G-T DACH1 c.854+1973C>A - IntronicSNV - 1/6
13-72438081-G-A DACH1 c.854+1973C>T - IntronicSNV - 1/6
1-65013586-T-C CACHD1 c.199-2691T>C - intron_variant - 1/26
16-82934307-A-G CDH13 c.157+42229A>G - IntronicSNV - 2/13
3-55987823-A-G ERC2 c.2268-3235T>C - IntronicSNV - 12/17
3-184428903-T-G MAGEF1 c.707A>C p.Glu236Ala Missense 1/1 -
3-4728008-G-A ITPR1 c.3630+1118G>A - IntronicSNV - 29/57
3-54897483-G-A CACNA2D3 c.1627-8083G>A - IntronicSNV - 17/37
10-50841704-C-T CHAT c.1111+5873C>T - IntronicSNV - 7/14
4-167694282-T-G SPOCK3 c.710-18402A>C - IntronicSNV - 7/10
22-40729614-A-G TNRC6B c.*10369A>G - 3-UTRSNV 24/24 -
8-133202844-G-C KCNQ3 c.387-4416C>G - IntronicSNV - 1/14
17-36101156-T-C HNF1B c.345-1526A>G - IntronicSNV - 1/8
7-75595682-A-G POR c.189-6049A>G - IntronicSNV - 2/15
14-59939727-T-C L3HYPDH c.1021A>G p.Ile341Val Missense 5/5 -
18-56637843-G-A ZNF532 c.3151-8444G>A - IntronicSNV - 8/10
2-125416607-C-T CNTNAP5 c.2074+11072C>T - IntronicSNV - 13/23
2-191902758-G-A STAT4 c.1434+1167C>T - IntronicSNV - 16/23
11-89886284-G-A NAALAD2 c.796+632G>A - IntronicSNV - 6/18
2-44104925-T-C ABCG8 c.1895T>C p.Val632Ala Missense 13/13 -
9-27047246-T-C IFT74 c.1109-26T>C - IntronicSNV - 14/19
13-24777773-T-C SPATA13 c.-223+42702T>C - intron_variant - 1/11
2-38893950-C-T GALM c.190+457C>T - IntronicSNV - 1/6
14-81085352-C-T CEP128 c.2807-38585G>A - IntronicSNV - 19/24
15-27228346-A-G GABRG3 c.202+6049A>G - IntronicSNV - 2/5
15-27228346-A-T GABRG3 c.202+6049A>T - IntronicSNV - 2/5
5-24500645-C-T CDH10 c.1394-2017G>A - IntronicSNV - 8/11
16-49839782-G-A ZNF423 c.17-16325C>T - IntronicSNV - 1/7
10-114758349-C-T TCF7L2 c.382-41435C>T - IntronicSNV - 3/13
9-103111965-C-T TEX10 c.1-320G>A - IntronicSNV - 1/14
10-114758349-C-G TCF7L2 c.382-41435C>G - IntronicSNV - 3/13
5-136793148-C-T SPOCK1 c.186+40914G>A - IntronicSNV - 2/10
10-108804840-A-G SORCS1 c.559-88502T>C - IntronicSNV - 1/25
13-96956093-T-C HS6ST3 c.707+212270T>C - IntronicSNV - 1/1
6-90518278-G-A MDN1 c.103-5005C>T - IntronicSNV - 1/101
5-54276104-G-A ESM1 c.452-841C>T - IntronicSNV - 2/2
6-51705624-C-T PKHD1 c.8108-4357G>A - IntronicSNV - 50/66
4-157842396-A-G PDGFC c.118+49542T>C - IntronicSNV - 1/5
4-187461706-G-A MTNR1A c.185-5995C>T - IntronicSNV - 1/1
15-37290293-G-T MEIS2 c.900+38722C>A - IntronicSNV - 8/12
6-160503656-C-T IGF2R c.5834-1326C>T - IntronicSNV - 39/47
3-54339576-C-T CACNA2D3 c.205-14893C>T - IntronicSNV - 2/37
11-78803472-C-T TENM4 c.1-22483G>A - IntronicSNV - 3/33
16-25851191-A-T HS3ST4 c.734+146719A>T - IntronicSNV - 1/1
16-25851191-A-G HS3ST4 c.734+146719A>G - IntronicSNV - 1/1
1-57933955-G-A DAB1 c.1-177253C>T - IntronicSNV - 3/16
9-80616526-T-C GNAQ c.136+29490A>G - IntronicSNV - 1/6
2-37024713-A-T VIT c.1014-3731A>T - IntronicSNV - 11/14
10-100218766-C-T HPSE2 c.*565G>A - 3-UTRSNV 12/12 -
3-65910218-T-A MAGI1 c.313+113453A>T - IntronicSNV - 1/22
2-211297355-G-A LANCL1 c.*1856C>T - 3-UTRSNV 10/10 -
12-129693530-T-G TMEM132D c.1443+535A>C - IntronicSNV - 5/8
12-129693530-T-C TMEM132D c.1443+535A>G - IntronicSNV - 5/8
3-17486643-C-T TBC1D5 c.98-16632G>A - IntronicSNV - 3/21
3-79399575-T-C ROBO1 c.89-224886A>G - IntronicSNV - 2/30
12-49390677-T-C DDN c.1982A>G p.Glu661Gly Missense 2/2 -
7-136621677-A-T CHRM2 c.-124-55257A>T - intron_variant - 2/3
2-26151206-T-A KIF3C c.*641A>T - 3-UTRSNV 8/8 -
7-147725461-G-T CNTNAP2 c.2383+50380G>T - IntronicSNV - 15/23
5-9421794-A-G SEMA5A c.-78+16074T>C - intron_variant - 2/22
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
4-109948511-G-A COL25A1 c.421-16980C>T - IntronicSNV - 5/34
2-26151206-T-C KIF3C c.*641A>G - 3-UTRSNV 8/8 -
8-110301998-T-C NUDCD1 c.805A>G p.Ile269Val Missense 5/10 -
14-91488751-T-C RPS6KA5 c.104-21248A>G - IntronicSNV - 1/16
8-108420688-G-A ANGPT1 c.298-61363C>T - IntronicSNV - 1/8
9-20353227-T-A MLLT3 c.1575+296A>T - IntronicSNV - 10/10
6-20661250-G-T CDKAL1 c.371+11642G>T - IntronicSNV - 5/15
10-22148230-T-C DNAJC1 c.978+22981A>G - IntronicSNV - 8/11
10-22148230-T-A DNAJC1 c.978+22981A>T - IntronicSNV - 8/11
21-46646005-T-C ADARB1 c.*3893T>C - 3-UTRSNV 12/12 -
15-32441633-C-T CHRNA7 c.351-4475C>T - IntronicSNV - 4/9
15-79350840-A-G RASGRF1 c.384-17T>C - IntronicSNV - 2/27
16-13179016-G-A SHISA9 c.692-118235G>A - IntronicSNV - 2/4
22-32097775-T-C PRR14L c.6001-27A>G - IntronicSNV - 6/8
14-90429749-A-G TDP1 c.291A>G p.Gln97Gln Synonymous 3/17 -
12-547683-T-C CCDC77 c.1004T>C p.Met335Thr Missense 10/13 -
9-20353227-T-G MLLT3 c.1575+296A>C - IntronicSNV - 10/10
6-20661250-G-C CDKAL1 c.371+11642G>C - IntronicSNV - 5/15
18-33907628-C-T FHOD3 c.166-27874C>T - IntronicSNV - 1/24
18-33907628-C-A FHOD3 c.166-27874C>A - IntronicSNV - 1/24
20-44204290-G-A WFDC8 c.26+3571C>T - IntronicSNV - 1/5
3-157135595-A-G VEPH1 c.697-3716T>C - IntronicSNV - 5/13
1-196482357-C-A KCNT2 c.96-20886G>T - IntronicSNV - 1/27
5-72177890-A-G TNPO1 c.921-404A>G - IntronicSNV - 9/24
6-20661250-G-A CDKAL1 c.371+11642G>A - IntronicSNV - 5/15
7-48396976-C-T ABCA13 c.10688+4892C>T - IntronicSNV - 31/61
8-97534651-C-T SDC2 c.60+28092C>T - IntronicSNV - 1/4
8-97534651-C-G SDC2 c.60+28092C>G - IntronicSNV - 1/4
10-17035394-A-G CUBN c.4169-2880T>C - IntronicSNV - 28/66
1-211021787-T-C KCNH1 c.1382-44279A>G - IntronicSNV - 7/10
1-65350122-A-G JAK1 c.7-964T>C - IntronicSNV - 2/24
6-145096340-A-G UTRN c.8632+840A>G - IntronicSNV - 59/73
20-51676901-C-T TSHZ2 c.40+87029C>T - IntronicSNV - 1/2
19-35978299-C-T KRTDAP c.*31G>A - 3-UTRSNV 5/5 -
2-179738505-T-C CCDC141 c.1900-1466A>G - IntronicSNV - 12/23
4-142968081-C-T INPP4B c.2643-18014G>A - IntronicSNV - 26/26
9-103051205-C-T INVS c.2069-3403C>T - IntronicSNV - 13/16
7-87141814-T-C ABCB1 c.3282+2733A>G - IntronicSNV - 26/28
10-117860851-T-C GFRA1 c.756-4576A>G - IntronicSNV - 4/8
4-172775756-A-C GALNTL6 c.138+39887A>C - IntronicSNV - 2/12
1-237796837-G-A RYR2 c.6556-41G>A - IntronicSNV - 42/104
12-371410-T-C SLC6A13 c.-6+545A>G - intron_variant - 1/14
7-110713220-C-T IMMP2L c.240-109599G>A - IntronicSNV - 3/5
16-81536652-C-T CMIP c.18+7553C>T - IntronicSNV - 1/20
15-81077470-G-A CEMIP c.-17+5515G>A - intron_variant - 1/28
8-17166765-A-C MTMR7 c.1151+21T>G - IntronicSNV - 10/13
8-17166765-A-G MTMR7 c.1151+21T>C - IntronicSNV - 10/13
16-48358368-A-G LONP2 c.1796-9759A>G - IntronicSNV - 11/14
16-81536652-C-A CMIP c.18+7553C>A - IntronicSNV - 1/20
1-167382374-A-T POU2F1 c.1990+23A>T - IntronicSNV - 15/15
6-144758799-A-T UTRN c.1158A>T p.Glu386Asp Missense 10/74 -
9-112051958-C-T EPB41L4B c.307-9757G>A - IntronicSNV - 1/15
2-63280690-C-T OTX1 c.97+468C>T - IntronicSNV - 3/4
2-25328703-C-T EFR3B c.363+2047C>T - IntronicSNV - 4/22
1-167382374-A-C POU2F1 c.1990+23A>C - IntronicSNV - 15/15
1-66613479-G-C PDE4B c.282-99664G>C - IntronicSNV - 3/16
1-37395244-G-A GRIK3 c.116-38547C>T - IntronicSNV - 1/15
1-37395244-G-C GRIK3 c.116-38547C>G - IntronicSNV - 1/15
10-32575444-C-T EPC1 c.1391+178G>A - IntronicSNV - 9/13
17-73455928-C-A TMEM94 c.-107+3096C>A - intron_variant - 1/31
8-100824550-G-A VPS13B c.8172+2792G>A - IntronicSNV - 44/61
8-6677842-T-C XKR5 c.807+1549A>G - IntronicSNV - 5/7
12-125291006-A-G SCARB1 c.1009+1301T>C - IntronicSNV - 7/12
15-79350840-A-T RASGRF1 c.384-17T>A - IntronicSNV - 2/27
11-100856955-C-T ARHGAP42 c.2457-1289C>T - IntronicSNV - 22/23
4-23815924-T-C PPARGC1A c.1182A>G p.Thr394Thr Synonymous 8/13 -
16-53813367-T-A FTO c.46-30685T>A - IntronicSNV - 1/8
10-12501398-A-G CAMK1D c.93-93826A>G - IntronicSNV - 1/9
22-22057273-G-A YPEL1 c.270+386C>T - IntronicSNV - 4/4
21-27465355-T-G APP c.226-2967A>C - IntronicSNV - 2/17
21-27465355-T-C APP c.226-2967A>G - IntronicSNV - 2/17
16-53813367-T-G FTO c.46-30685T>G - IntronicSNV - 1/8
5-15738017-A-G FBXL7 c.127+121836A>G - IntronicSNV - 2/3
5-15738017-A-T FBXL7 c.127+121836A>T - IntronicSNV - 2/3
18-6986714-G-C LAMA1 c.5169-368C>G - IntronicSNV - 36/62
18-60028655-A-G TNFRSF11A c.617-258A>G - IntronicSNV - 6/8
11-19830495-A-G NAV2 c.268-23535A>G - IntronicSNV - 1/37
12-66782412-A-G GRIP1 c.2308+3676T>C - IntronicSNV - 18/22
8-131833036-C-G ADCY8 c.2754+552G>C - IntronicSNV - 13/17
8-131833036-C-T ADCY8 c.2754+552G>A - IntronicSNV - 13/17
1-76725259-A-T ST6GALNAC3 c.19-54231A>T - IntronicSNV - 1/4
9-129580187-A-T ZBTB43 c.-24+12776A>T - intron_variant - 1/1
10-24634956-A-G KIAA1217 c.355-34842A>G - IntronicSNV - 2/20
2-79855622-C-T CTNNA2 c.1-23061C>T - IntronicSNV - 1/17
10-93955851-G-T CPEB3 c.1006-3458C>A - IntronicSNV - 2/9
10-93955851-G-A CPEB3 c.1006-3458C>T - IntronicSNV - 2/9
3-167497444-A-T SERPINI1 c.1-9473A>T - IntronicSNV - 1/8
3-18391478-T-G SATB1 c.1780-304A>C - IntronicSNV - 10/10
2-79855622-C-A CTNNA2 c.1-23061C>A - IntronicSNV - 1/17
3-71521494-C-T FOXP1 c.-168+21083G>A - intron_variant - 3/20
10-14621153-C-T FAM107B c.470-48639G>A - IntronicSNV - 2/4
18-67867663-G-A RTTN c.488-923C>T - IntronicSNV - 4/48
10-98478449-C-T PIK3AP1 c.13+1690G>A - IntronicSNV - 1/16
14-37400841-C-T SLC25A21 c.71-56632G>A - IntronicSNV - 1/9
1-234600919-G-A TARBP1 c.1301+483C>T - IntronicSNV - 5/29
12-72903301-G-A TRHDE c.1587+9886G>A - IntronicSNV - 6/18
10-78993943-T-C KCNMA1 c.602+17010A>G - IntronicSNV - 3/26
6-51611470-T-C PKHD1 c.9998+49A>G - IntronicSNV - 59/66
6-51611470-T-A PKHD1 c.9998+49A>T - IntronicSNV - 59/66
12-72903301-G-C TRHDE c.1587+9886G>C - IntronicSNV - 6/18
4-77675505-C-T SHROOM3 c.3869C>T p.Pro1290Leu Missense 7/11 -
13-74440000-T-C KLF12 c.124-19490A>G - IntronicSNV - 3/7
6-129646565-A-G LAMA2 c.4177-2858A>G - IntronicSNV - 28/64
1-43215930-C-T P3H1 c.1647G>A p.Met549Ile Missense 11/15 -
1-76725259-A-G ST6GALNAC3 c.19-54231A>G - IntronicSNV - 1/4
3-97328284-G-T EPHA6 c.2513-1353G>T - IntronicSNV - 12/17
13-46071980-G-A COG3 c.1488+1533G>A - IntronicSNV - 13/22
7-80131842-C-T GNAT3 c.119-7879G>A - IntronicSNV - 1/7
22-33683735-T-C LARGE1 c.1731-4401A>G - IntronicSNV - 12/14
1-53605884-T-C SLC1A7 c.135+2103A>G - IntronicSNV - 1/10
4-73245191-T-C ADAMTS3 c.661+35341A>G - IntronicSNV - 4/21
17-59314257-A-C BCAS3 c.2426-131431A>C - IntronicSNV - 22/23
4-73245191-T-A ADAMTS3 c.661+35341A>T - IntronicSNV - 4/21
6-96474372-A-G FUT9 c.-98+10284A>G - intron_variant - 1/2
15-74332188-C-G PML c.1711-3142C>G - IntronicSNV - 7/7
12-26943416-C-T ITPR2 c.93-256G>A - IntronicSNV - 1/56
12-26943416-C-A ITPR2 c.93-256G>T - IntronicSNV - 1/56
5-5183783-A-G ADAMTS16 c.763+1365A>G - IntronicSNV - 4/22
11-99812735-C-A CNTN5 c.674-14803C>A - IntronicSNV - 7/24
8-38804226-C-A PLEKHA2 c.345+487C>A - IntronicSNV - 5/12
1-181477525-C-T CACNA1E c.267-2088C>T - IntronicSNV - 1/46
11-103976293-C-T PDGFD c.124+58239G>A - IntronicSNV - 1/6
21-36245198-C-T RUNX1 c.427+7656G>A - IntronicSNV - 2/5
3-190167533-C-T TMEM207 c.66G>A p.Pro22Pro Synonymous 1/5 -
14-90301314-A-C EFCAB11 c.411-37646T>G - IntronicSNV - 5/5
14-90301314-A-G EFCAB11 c.411-37646T>C - IntronicSNV - 5/5
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
3-124192674-C-G KALRN c.4026-836C>G - IntronicSNV - 25/33
7-151873853-C-T KMT2C c.8685G>A p.Gln2895Gln Synonymous 38/59 -
13-111089573-G-A COL4A2 c.826-776G>A - IntronicSNV - 13/47
3-43626375-G-A ANO10 c.473-4411C>T - IntronicSNV - 4/12
15-82460440-A-C EFL1 c.1751-4115T>G - IntronicSNV - 15/19
15-78896547-G-A CHRNA3 c.378-1941C>T - IntronicSNV - 4/5
12-131594563-C-T ADGRD1 c.2041+1141C>T - IntronicSNV - 18/24
3-54339576-C-G CACNA2D3 c.205-14893C>G - IntronicSNV - 2/37
11-74883577-G-T SLCO2B1 c.935G>T p.Arg312Leu Missense 7/14 -
5-19814107-A-G CDH18 c.228+24761T>C - IntronicSNV - 3/12
3-186937466-C-T MASP1 c.*393G>A - 3-UTRSNV 16/16 -
1-55663372-A-G USP24 c.324+17091T>C - IntronicSNV - 1/67
17-11930981-T-G MAP2K4 c.116-4602T>G - IntronicSNV - 1/11
4-170037572-G-A SH3RF1 c.1987C>T p.Pro663Ser Missense 10/12 -
11-60772090-C-T CD6 c.50-1956C>T - IntronicSNV - 1/12
3-131290291-T-C CPNE4 c.927+3624A>G - IntronicSNV - 10/15
7-8044483-G-T GLCCI1 c.609+794G>T - IntronicSNV - 2/7
19-7466037-G-A ARHGEF18 c.-72+5904G>A - intron_variant - 1/20
18-21148863-A-G NPC1 c.387T>C p.Tyr129Tyr Synonymous 4/25 -
15-63663411-G-A CA12 c.106+4446C>T - IntronicSNV - 2/10
9-72885267-T-C SMC5 c.380+2376T>C - IntronicSNV - 3/24
9-72885267-T-G SMC5 c.380+2376T>G - IntronicSNV - 3/24
2-61184651-G-A PUS10 c.1001-2442C>T - IntronicSNV - 11/17
14-76626703-T-C GPATCH2L c.662+5335T>C - IntronicSNV - 2/9
2-230505033-C-A DNER c.277-48429G>T - IntronicSNV - 1/12
2-230505033-C-T DNER c.277-48429G>A - IntronicSNV - 1/12
10-69911574-T-C MYPN c.1317+1706T>C - IntronicSNV - 6/19
2-25646321-A-G DTNB c.1555-3917T>C - IntronicSNV - 15/19
3-79077887-G-A ROBO1 c.173-89810C>T - IntronicSNV - 3/30
1-183798877-A-G RGL1 c.244-17823A>G - IntronicSNV - 3/18
18-67534710-A-G CD226 c.831-63T>C - IntronicSNV - 5/6
21-32810899-C-G TIAM1 c.-369+25397G>C - intron_variant - 2/28
2-75875317-A-G MRPL19 c.221+972A>G - IntronicSNV - 2/5
1-110698045-C-T SLC6A17 c.-88+4540C>T - intron_variant - 1/11
3-120154181-T-C FSTL1 c.63+15350A>G - IntronicSNV - 2/10
3-120154181-T-A FSTL1 c.63+15350A>T - IntronicSNV - 2/10
3-12393125-C-G PPARG c.1-28080C>G - IntronicSNV - 1/6
2-240279945-G-T HDAC4 c.1-5551C>A - IntronicSNV - 1/26
12-23801976-C-T SOX5 c.932-8145G>A - IntronicSNV - 7/14
8-118184783-C-T SLC30A8 c.973C>T p.Arg325Trp Missense 8/8 -
18-67534710-A-C CD226 c.831-63T>G - IntronicSNV - 5/6
18-60028655-A-T TNFRSF11A c.617-258A>T - IntronicSNV - 6/8
11-8016730-T-A EIF3F c.882+65T>A - IntronicSNV - 6/7
16-53800954-T-C FTO c.46-43098T>C - IntronicSNV - 1/8
18-46849333-C-T DYM c.763+8901G>A - IntronicSNV - 8/16
3-182664547-G-A DCUN1D1 c.700+479C>T - IntronicSNV - 6/6
10-105257786-G-T NEURL1 c.85+3557G>T - IntronicSNV - 1/5
19-50945411-A-G MYBPC2 c.770-27A>G - IntronicSNV - 8/27
2-86677496-C-A KDM3A c.342+411C>A - IntronicSNV - 3/25
19-50945411-A-T MYBPC2 c.770-27A>T - IntronicSNV - 8/27
7-134834499-T-C TMEM140 c.-25+1477T>C - intron_variant - 1/1
11-84577299-C-T DLG2 c.42+56822G>A - IntronicSNV - 1/22
8-62316409-T-C CLVS1 c.630+27071T>C - IntronicSNV - 3/5
1-26447739-G-A PDIK1L c.286-589G>A - IntronicSNV - 2/2
13-31824650-C-T B3GLCT c.459+2547C>T - IntronicSNV - 6/14
2-170156880-T-C LRP2 c.428-5660A>G - IntronicSNV - 4/78
2-101498174-T-C NPAS2 c.1-23043T>C - IntronicSNV - 1/20
20-31687132-C-A BPIFB4 c.1570-1100C>A - IntronicSNV - 11/15
11-124890396-T-C CCDC15 c.2411+15288T>C - IntronicSNV - 13/15
5-76709426-G-T PDE8B c.1911+292G>T - IntronicSNV - 17/21
5-76709426-G-A PDE8B c.1911+292G>A - IntronicSNV - 17/21
18-678847-T-C ENOSF1 c.877-110A>G - IntronicSNV - 11/15
17-66303352-G-A ARSG c.1-283G>A - 5-UTRSNV 2/12 -
3-130132202-C-T COL6A5 c.4663-187C>T - IntronicSNV - 20/39
9-129580187-A-G ZBTB43 c.-24+12776A>G - intron_variant - 1/1
16-24339933-A-G CACNG3 c.212-18122A>G - IntronicSNV - 1/3
6-13431314-A-G GFOD1 c.253+55556T>C - IntronicSNV - 1/1
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
4-120522934-G-A PDE5A c.741+4930C>T - IntronicSNV - 2/20
5-78199454-C-A ARSB c.899-17804G>T - IntronicSNV - 4/7
7-120711855-C-T CPED1 c.616+7488C>T - IntronicSNV - 5/22
9-15192720-A-T TTC39B c.825-27T>A - IntronicSNV - 8/19
22-32272658-G-A DEPDC5 c.3712+407G>A - IntronicSNV - 36/41
15-34041896-G-A RYR3 c.8200-284G>A - IntronicSNV - 55/103
2-1152434-C-T SNTG2 c.412-8800C>T - IntronicSNV - 6/16
2-1152434-C-G SNTG2 c.412-8800C>G - IntronicSNV - 6/16
13-76323485-T-A LMO7 c.367-11583T>A - IntronicSNV - 4/29