PMID: 29531354

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Nature genetics
R Malik, G Chauhan, M Traylor, M Sargurupremraj, Y Okada, A Mishra, L Rutten-Jacobs, AK Giese, SW van der Laan, S Gretarsdottir, CD Anderson, M Chong, HHH Adams, T Ago, P Almgren, P Amouyel, H Ay, TM Bartz, OR Benavente, S Bevan, GB Boncoraglio, RD Brown, AS Butterworth, C Carrera, CL Carty, DI Chasman, WM Chen, JW Cole, A Correa, I Cotlarciuc, C Cruchaga, J Danesh, PIW de Bakker, AL DeStefano, M den Hoed, Q Duan, ST Engelter, GJ Falcone, RF Gottesman, RP Grewal, V Gudnason, S Gustafsson, J Haessler, TB Harris, A Hassan, AS Havulinna, SR Heckbert, EG Holliday, G Howard, FC Hsu, HI Hyacinth, MA Ikram, E Ingelsson, MR Irvin, X Jian, J Jiménez-Conde, JA Johnson, JW Jukema, M Kanai, KL Keene, BM Kissela, DO Kleindorfer, C Kooperberg, M Kubo, LA Lange, CD Langefeld, C Langenberg, LJ Launer, JM Lee, R Lemmens, D Leys, CM Lewis, WY Lin, AG Lindgren, E Lorentzen, PK Magnusson, J Maguire, A Manichaikul, PF McArdle, JF Meschia, BD Mitchell, TH Mosley, MA Nalls, T Ninomiya, MJ O'Donnell, BM Psaty, SL Pulit, K Rannikmäe, AP Reiner, KM Rexrode, K Rice, SS Rich, PM Ridker, NS Rost, PM Rothwell, JI Rotter, T Rundek, RL Sacco, S Sakaue, MM Sale, V Salomaa, BR Sapkota, R Schmidt, CO Schmidt, U Schminke, P Sharma, A Slowik, CLM Sudlow, C Tanislav, T Tatlisumak, KD Taylor, VNS Thijs, G Thorleifsson, U Thorsteinsdottir, S Tiedt, S Trompet, C Tzourio, CM van Duijn, M Walters, NJ Wareham, S Wassertheil-Smoller, JG Wilson, KL Wiggins, Q Yang, S Yusuf, , , , , , JC Bis, T Pastinen, A Ruusalepp, EE Schadt, S Koplev, JLM Björkegren, V Codoni, M Civelek, NL Smith, DA Trégouët, IE Christophersen, C Roselli, SA Lubitz, PT Ellinor, ES Tai, JS Kooner, N Kato, J He, P van der Harst, P Elliott, JC Chambers, F Takeuchi, AD Johnson, , , , , , , , , , , DK Sanghera, O Melander, C Jern, D Strbian, I Fernandez-Cadenas, WT Longstreth, A Rolfs, J Hata, D Woo, J Rosand, G Pare, JC Hopewell, D Saleheen, K Stefansson, BB Worrall, SJ Kittner, S Seshadri, M Fornage, HS Markus, JMM Howson, Y Kamatani, S Debette, M Dichgans
2018-04

518 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-47215674-A-G LRCH1 c.308-8662A>G - IntronicSNV - 1/18
12-90008959-A-G ATP2B1 c.2067+1620T>C - IntronicSNV - 12/20
2-203777226-C-T CARF c.-211+179C>T - intron_variant - 1/15
17-45013271-T-C GOSR2 c.*625T>C - 3-UTRSNV 5/5 -
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
4-148402904-T-A EDNRA c.-71+376T>A - intron_variant - 1/5
7-28196413-G-A JAZF1 c.115+23669C>T - IntronicSNV - 1/4
10-95895940-A-G PLCE1 c.1492+3724A>G - IntronicSNV - 3/32
4-155527436-C-T FGG c.1129+421G>A - IntronicSNV - 8/8
3-185511687-G-T IGF2BP2 c.239+29254C>A - IntronicSNV - 2/15
1-156196016-T-C PMF1-BGLAP c.162-6095T>C - IntronicSNV - 1/6
7-92256339-A-T CDK6 c.648-3939T>A - IntronicSNV - 5/7
7-92256339-A-C CDK6 c.648-3939T>G - IntronicSNV - 5/7
1-10798489-C-G CASZ1 c.-77+22269G>C - intron_variant - 2/15
19-10778173-G-C ILF3 c.1-3109G>C - IntronicSNV - 1/17
1-156181770-A-G SLC25A44 c.*1548A>G - 3-UTRSNV 4/4 -
1-156202640-C-T PMF1-BGLAP c.267+424C>T - IntronicSNV - 2/6
2-43690030-C-T THADA c.3836+22343G>A - IntronicSNV - 26/37
19-10772112-T-C ILF3 c.-91+6949T>C - intron_variant - 1/17
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
19-10790143-G-T ILF3 c.747+275G>T - IntronicSNV - 7/17
4-148407652-C-T EDNRA c.420+399C>T - IntronicSNV - 2/5
7-100458093-C-G SLC12A9 c.1218+239C>G - IntronicSNV - 9/13
11-2847069-T-G KCNQ1 c.1795-21928T>G - IntronicSNV - 15/15
10-124227624-C-T HTRA1 c.472+5984C>T - IntronicSNV - 1/8
13-47228730-C-G LRCH1 c.452+4250C>G - IntronicSNV - 2/18
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
17-1567324-T-C PRPF8 c.3775-1877A>G - IntronicSNV - 24/42
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
19-10770292-A-C ILF3 c.-91+5129A>C - intron_variant - 1/17
11-102742761-G-T MMP12 c.351-79C>A - IntronicSNV - 2/10
19-10770292-A-G ILF3 c.-91+5129A>G - intron_variant - 1/17
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
10-105596007-T-C SH3PXD2A c.72+18946A>G - IntronicSNV - 1/13
11-100593538-G-C ARHGAP42 c.154+34975G>C - IntronicSNV - 1/23
19-10776606-A-G ILF3 c.1-4676A>G - IntronicSNV - 1/17
19-10776606-A-T ILF3 c.1-4676A>T - IntronicSNV - 1/17
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
19-10754400-A-T SLC44A2 c.*339A>T - 3-UTRSNV 22/22 -
19-10754400-A-C SLC44A2 c.*339A>C - 3-UTRSNV 22/22 -
19-10754400-A-G SLC44A2 c.*339A>G - 3-UTRSNV 22/22 -
1-10798552-T-C CASZ1 c.-77+22206A>G - intron_variant - 2/15
1-113043423-A-G WNT2B c.125+9720A>G - IntronicSNV - 2/5
6-43304007-C-A ZNF318 c.*889G>T - 3-UTRSNV 10/10 -
1-156184747-T-C PMF1-BGLAP c.161+1780T>C - IntronicSNV - 1/6
19-10787540-T-C ILF3 c.412-299T>C - IntronicSNV - 4/17
19-10787540-T-A ILF3 c.412-299T>A - IntronicSNV - 4/17
1-156205301-T-C PMF1-BGLAP c.369-839T>C - IntronicSNV - 3/6
13-47230865-A-C LRCH1 c.452+6385A>C - IntronicSNV - 2/18
13-47230865-A-G LRCH1 c.452+6385A>G - IntronicSNV - 2/18
4-148414651-T-C EDNRA c.420+7398T>C - IntronicSNV - 2/5
1-156202173-A-G PMF1-BGLAP c.224A>G p.Gln75Arg Missense 2/7 -
3-50129399-C-T RBM5 c.18-77C>T - IntronicSNV - 2/24
19-10790162-T-C ILF3 c.747+294T>C - IntronicSNV - 7/17
2-26915624-G-T KCNK3 c.1-120G>T - 5-UTRSNV 1/2 -
10-105644275-A-T STN1 c.950-1676T>A - IntronicSNV - 9/9
9-136149830-G-T ABO c.28+748C>A - IntronicSNV - 1/7
1-56965664-C-T PLPP3 c.811-3316G>A - IntronicSNV - 5/5
13-47221640-T-G LRCH1 c.308-2696T>G - IntronicSNV - 1/18
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
2-211540489-C-A CPS1 c.4217C>A p.Ala1406Asp Missense 37/39 -
9-136149830-G-A ABO c.28+748C>T - IntronicSNV - 1/7
17-56451822-T-C RNF43 c.253-3428A>G - IntronicSNV - 2/9
1-156202809-G-C PMF1-BGLAP c.267+593G>C - IntronicSNV - 2/6
12-118265441-T-G KSR2 c.472+27792A>C - intron_variant - 3/19
19-10754905-G-T SLC44A2 c.*844G>T - 3-UTRSNV 22/22 -
17-1571818-A-G PRPF8 c.3774+4557T>C - IntronicSNV - 24/42
1-154395946-A-G IL6R c.86-5726A>G - IntronicSNV - 1/9
1-156188214-A-G PMF1-BGLAP c.161+5247A>G - IntronicSNV - 1/6
15-91437388-A-C FES c.2326+100A>C - IntronicSNV - 18/18
12-111910219-A-G ATXN2 c.2519-1673T>C - intron_variant - 18/24
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
7-92241451-C-G CDK6 c.*3003G>C - 3-UTRSNV 8/8 -
1-241306248-C-T RGS7 c.79-44186G>A - IntronicSNV - 2/17
4-148402904-T-G EDNRA c.-71+376T>G - intron_variant - 1/5
3-47061183-G-A SETD2 c.7431+67C>T - IntronicSNV - 19/20
3-47061183-G-C SETD2 c.7431+67C>G - IntronicSNV - 19/20
15-91437388-A-T FES c.2326+100A>T - IntronicSNV - 18/18
10-105614452-G-T SH3PXD2A c.72+501C>A - IntronicSNV - 1/13
15-91430264-GC-AA FES c.461_462delGCinsAA p.Arg154Gln Missense 4/19 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
11-16250183-C-T SOX6 c.535+5945G>A - IntronicSNV - 4/15
4-155525695-G-A FGG c.*291C>T - IntergenicSNV 9/9 -
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
17-1568630-A-G PRPF8 c.3775-3183T>C - IntronicSNV - 24/42
5-122476457-G-C PRDM6 c.901-15121G>C - IntronicSNV - 3/7
5-122476457-G-A PRDM6 c.901-15121G>A - IntronicSNV - 3/7
12-20577593-A-C PDE3A c.960+54415A>C - IntronicSNV - 1/15
1-113053023-A-C WNT2B c.126-4473A>C - IntronicSNV - 2/5
17-1560735-T-G PRPF8 c.5506-680A>C - IntronicSNV - 34/42
15-91427872-G-A FES c.-10+98G>A - intron_variant - 1/18
15-91427872-G-C FES c.-10+98G>C - intron_variant - 1/18
15-91427872-G-T FES c.-10+98G>T - intron_variant - 1/18
1-156200445-G-C PMF1-BGLAP c.162-1666G>C - IntronicSNV - 1/6
17-59013488-T-A BCAS3 c.1088-11092T>A - IntronicSNV - 13/23
11-1905292-T-C LSP1 c.591+38T>C - IntronicSNV - 5/10
12-20577593-A-T PDE3A c.960+54415A>T - IntronicSNV - 1/15
17-1571655-T-G PRPF8 c.3774+4720A>C - IntronicSNV - 24/42
7-17919258-G-T SNX13 c.441-3845C>A - IntronicSNV - 5/25
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
19-10772685-G-C ILF3 c.-91+7522G>C - intron_variant - 1/17
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
13-47185601-A-G LRCH1 c.308-38735A>G - IntronicSNV - 1/18
7-92245927-C-T CDK6 c.835-1327G>A - IntronicSNV - 7/7
13-47208767-A-G LRCH1 c.308-15569A>G - IntronicSNV - 1/18
13-47208767-A-T LRCH1 c.308-15569A>T - IntronicSNV - 1/18
7-17919258-G-A SNX13 c.441-3845C>T - IntronicSNV - 5/25
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
1-230848702-C-T AGT c.-4+1130G>A - intron_variant - 1/4
1-230848702-C-G AGT c.-4+1130G>C - intron_variant - 1/4
19-10748820-T-A SLC44A2 c.1834+51T>A - IntronicSNV - 19/21
11-16250183-C-G SOX6 c.535+5945G>C - IntronicSNV - 4/15
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
3-52532118-A-G STAB1 c.78+2611A>G - IntronicSNV - 1/68
5-148391140-A-G SH3TC2 c.3204+1007T>C - IntronicSNV - 13/16
11-16250183-C-A SOX6 c.535+5945G>T - IntronicSNV - 4/15
16-73059159-C-T ZFHX3 c.-50+22492G>A - intron_variant - 1/9
16-73059159-C-A ZFHX3 c.-50+22492G>T - intron_variant - 1/9
7-150690176-C-T NOS3 c.1-716C>T - IntronicSNV - 1/26
7-92239144-A-G CDK6 c.*5310T>C - 3-UTRSNV 8/8 -
7-92260161-G-A CDK6 c.648-7761C>T - IntronicSNV - 5/7
7-92264993-T-C CDK6 c.648-12593A>G - IntronicSNV - 5/7
2-204062728-A-T NBEAL1 c.7041+614A>T - IntronicSNV - 47/54
15-67455630-C-T SMAD3 c.207-1603C>T - IntronicSNV - 1/8
13-47211879-G-C LRCH1 c.308-12457G>C - IntronicSNV - 1/18
1-156200671-T-A PMF1-BGLAP c.162-1440T>A - IntronicSNV - 1/6
1-156200671-T-C PMF1-BGLAP c.162-1440T>C - IntronicSNV - 1/6
17-1568709-A-G PRPF8 c.3775-3262T>C - IntronicSNV - 24/42
7-92280695-T-C CDK6 c.647+20045A>G - IntronicSNV - 5/7
13-47199611-T-C LRCH1 c.308-24725T>C - IntronicSNV - 1/18
13-47247985-T-A LRCH1 c.579+4694T>A - IntronicSNV - 3/18
10-105307724-G-A NEURL1 c.86-22905G>A - IntronicSNV - 1/5
7-92247333-A-G CDK6 c.834+53T>C - IntronicSNV - 7/7
12-90060586-G-A ATP2B1 c.1-10923C>T - IntergenicSNV - 1/20
7-92283262-C-T CDK6 c.647+17478G>A - IntronicSNV - 5/7
10-105596641-G-C SH3PXD2A c.72+18312C>G - IntronicSNV - 1/13
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
17-1554770-A-G PRPF8 c.6588T>C p.His2196His Synonymous 41/43 -
10-80942631-A-G ZMIZ1 c.1-18759A>G - IntronicSNV - 4/24
19-10794630-G-T ILF3 c.2055G>T p.Ser685Ser Synonymous 17/18 -
19-10794630-G-C ILF3 c.2055G>C p.Ser685Ser Synonymous 17/18 -
19-10794630-G-A ILF3 c.2055G>A p.Ser685Ser Synonymous 17/18 -
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
13-47201874-C-T LRCH1 c.308-22462C>T - IntronicSNV - 1/18
13-47201874-C-A LRCH1 c.308-22462C>A - IntronicSNV - 1/18
9-136149399-G-A ABO c.28+1179C>T - IntronicSNV - 1/7
10-105651657-G-T STN1 c.876+231C>A - IntronicSNV - 8/9
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
1-156189793-T-C PMF1-BGLAP c.161+6826T>C - IntronicSNV - 1/6
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
16-73051620-C-G ZFHX3 c.-50+30031G>C - intron_variant - 1/9
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
5-131667353-A-G SLC22A4 c.952-96A>G - IntronicSNV - 5/9
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
17-59485393-C-T TBX2 c.1687-22C>T - IntronicSNV - 6/6
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
1-156173685-T-C SLC25A44 c.625+3422T>C - IntronicSNV - 2/3
1-156184458-T-A PMF1-BGLAP c.161+1491T>A - IntronicSNV - 1/6
1-156181007-C-G SLC25A44 c.*785C>G - 3-UTRSNV 4/4 -
1-156184458-T-C PMF1-BGLAP c.161+1491T>C - IntronicSNV - 1/6
19-10752968-A-G SLC44A2 c.1924-75A>G - IntronicSNV - 20/21
1-156204047-G-A PMF1-BGLAP c.368+528G>A - IntronicSNV - 3/6
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
7-92257392-A-G CDK6 c.648-4992T>C - IntronicSNV - 5/7
10-105615074-C-T SH3PXD2A c.1-50G>A - 5-UTRSNV 1/14 -
17-1570587-T-C PRPF8 c.3775-5140A>G - IntronicSNV - 24/42
7-24944323-T-G OSBPL3 c.1-12232A>C - IntronicSNV - 1/22
19-10771377-G-C ILF3 c.-91+6214G>C - intron_variant - 1/17
19-10771377-G-T ILF3 c.-91+6214G>T - intron_variant - 1/17
12-111904371-T-A ATXN2 c.2837-1852A>T - intron_variant - 20/24
6-161005610-C-T LPA c.4289+468G>A - IntronicSNV - 26/38
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
3-138122122-C-T MRAS c.*1011C>T - 3-UTRSNV 6/6 -
1-156198994-T-C PMF1-BGLAP c.162-3117T>C - IntronicSNV - 1/6
1-156190083-A-T PMF1-BGLAP c.161+7116A>T - IntronicSNV - 1/6
17-1549986-A-G RILP c.1029-73T>C - IntronicSNV - 7/7
1-156195971-T-A PMF1-BGLAP c.162-6140T>A - IntronicSNV - 1/6
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
17-1569329-T-G PRPF8 c.3775-3882A>C - IntronicSNV - 24/42
10-105669301-C-T STN1 c.229+984G>A - IntronicSNV - 3/9
19-10748121-C-T SLC44A2 c.1586-199C>T - IntronicSNV - 16/21
13-47208947-G-T LRCH1 c.308-15389G>T - IntronicSNV - 1/18
13-47208947-G-C LRCH1 c.308-15389G>C - IntronicSNV - 1/18
1-113042822-T-C WNT2B c.125+9119T>C - IntronicSNV - 2/5
7-92246744-C-G CDK6 c.834+642G>C - IntronicSNV - 7/7
1-156194339-G-A PMF1-BGLAP c.162-7772G>A - IntronicSNV - 1/6
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
19-10778173-G-A ILF3 c.1-3109G>A - IntronicSNV - 1/17
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
19-10748073-C-G SLC44A2 c.1586-247C>G - IntronicSNV - 16/21
3-119560606-T-A GSK3B c.1195+1496A>T - IntronicSNV - 10/10
3-119560606-T-C GSK3B c.1195+1496A>G - IntronicSNV - 10/10
1-156202868-G-A PMF1-BGLAP c.268-551G>A - IntronicSNV - 2/6
1-156202759-G-T PMF1-BGLAP c.267+543G>T - IntronicSNV - 2/6
17-47402807-C-T ZNF652 c.1-7720G>A - IntronicSNV - 1/5
1-113063003-A-G WNT2B c.991A>G p.Thr331Ala Missense 6/6 -
1-156172125-T-C SLC25A44 c.625+1862T>C - IntronicSNV - 2/3
13-28973621-G-A FLT1 c.1552-2416C>T - IntronicSNV - 11/29
1-156172125-T-G SLC25A44 c.625+1862T>G - IntronicSNV - 2/3
15-91420940-C-T FURIN c.667+95C>T - IntronicSNV - 7/15
2-234679384-C-T UGT1A1 c.1305-1524C>T - IntronicSNV - 4/4
6-26091179-C-T HFE c.187C>T p.His63Tyr Missense 2/6 -
1-156205383-A-C PMF1-BGLAP c.369-757A>C - IntronicSNV - 3/6
17-1571903-G-C PRPF8 c.3774+4472C>G - IntronicSNV - 24/42
15-91420940-C-A FURIN c.667+95C>A - IntronicSNV - 7/15
19-10780802-G-A ILF3 c.1-480G>A - IntronicSNV - 1/17
13-47189928-G-T LRCH1 c.308-34408G>T - IntronicSNV - 1/18
10-105656874-G-A STN1 c.753+432C>T - IntronicSNV - 7/9
2-85788175-T-A GGCX c.44-67A>T - IntronicSNV - 1/14
2-85788175-T-C GGCX c.44-67A>G - IntronicSNV - 1/14
19-10748820-T-C SLC44A2 c.1834+51T>C - IntronicSNV - 19/21
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
7-92264410-T-C CDK6 c.648-12010A>G - IntronicSNV - 5/7
7-129663496-C-A ZC3HC1 c.1088G>T p.Arg363Leu Missense 8/10 -
7-129663496-C-T ZC3HC1 c.1088G>A p.Arg363His Missense 8/10 -
1-156169610-A-G SLC25A44 c.1-29A>G - IntronicSNV - 1/3
4-187199005-T-G F11 c.755+1461T>G - IntronicSNV - 7/14
19-10775010-G-A ILF3 c.1-6272G>A - IntronicSNV - 1/17
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
1-10798489-C-T CASZ1 c.-77+22269G>A - intron_variant - 2/15
13-47238854-A-G LRCH1 c.453-4311A>G - IntronicSNV - 2/18
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
6-20679709-A-T CDKAL1 c.371+30101A>T - IntronicSNV - 5/15
17-36102381-A-G HNF1B c.344+2151T>C - IntronicSNV - 1/8
6-36645588-A-T CDKN1A c.-37-91A>T - intron_variant - 1/3
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
11-17408630-C-T KCNJ11 c.1009G>A p.Val337Ile Missense 1/1 -
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
12-20577593-A-G PDE3A c.960+54415A>G - IntronicSNV - 1/15
11-100593538-G-A ARHGAP42 c.154+34975G>A - IntronicSNV - 1/23
6-36645588-A-C CDKN1A c.-37-91A>C - intron_variant - 1/3
17-1572418-C-T PRPF8 c.3774+3957G>A - IntronicSNV - 24/42
6-11774583-A-G ADTRP c.153+4257T>C - IntronicSNV - 1/5
17-1567689-C-T PRPF8 c.3775-2242G>A - IntronicSNV - 24/42
11-61278246-T-C LRRC10B c.*897T>C - 3-UTRSNV 1/1 -
1-156186615-A-T PMF1-BGLAP c.161+3648A>T - IntronicSNV - 1/6
13-47222433-A-G LRCH1 c.308-1903A>G - IntronicSNV - 1/18
10-104616663-T-C BORCS7 c.141+2479T>C - IntronicSNV - 1/5
1-156186615-A-G PMF1-BGLAP c.161+3648A>G - IntronicSNV - 1/6
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
19-10769974-T-C ILF3 c.-91+4811T>C - intron_variant - 1/17
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
16-73051620-C-T ZFHX3 c.-50+30031G>A - intron_variant - 1/9
19-10778763-A-T ILF3 c.1-2519A>T - IntronicSNV - 1/17
19-10770783-A-G ILF3 c.-91+5620A>G - intron_variant - 1/17
11-102735847-102735848---AT MMP12 c.1202+658_1202+659dup - intron_variant - 9/10
19-10793749-A-C ILF3 c.1549-52A>C - IntronicSNV - 13/17
10-105608824-C-T SH3PXD2A c.72+6129G>A - IntronicSNV - 1/13
16-15129940-C-T PDXDC1 c.2175C>T p.His725His Synonymous 23/23 -
1-156191149-T-C PMF1-BGLAP c.161+8182T>C - IntronicSNV - 1/6
11-102738075-T-C MMP12 c.834A>G - synonymous_variant 7/11 -
1-10799577-T-C CASZ1 c.-77+21181A>G - intron_variant - 2/15
19-10793749-A-G ILF3 c.1549-52A>G - IntronicSNV - 13/17
16-15129940-C-A PDXDC1 c.2175C>A p.His725Gln Missense 23/23 -
17-1569329-T-C PRPF8 c.3775-3882A>G - IntronicSNV - 24/42
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
1-156202759-G-A PMF1-BGLAP c.267+543G>A - IntronicSNV - 2/6
5-140011783-GCG-TGG CD14 c.784_786delCGCinsTGG p.Arg262Trp Missense 2/2 -
13-47232678-A-G LRCH1 c.452+8198A>G - IntronicSNV - 2/18
13-47232678-A-C LRCH1 c.452+8198A>C - IntronicSNV - 2/18
13-47193696-G-A LRCH1 c.308-30640G>A - IntronicSNV - 1/18
13-47206814-G-A LRCH1 c.308-17522G>A - IntronicSNV - 1/18
13-47206814-G-C LRCH1 c.308-17522G>C - IntronicSNV - 1/18
19-10793749-A-T ILF3 c.1549-52A>T - IntronicSNV - 13/17
3-11400249-C-T ATG7 c.1479+163C>T - IntronicSNV - 13/18
3-11400249-C-A ATG7 c.1479+163C>A - IntronicSNV - 13/18
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
16-53819169-T-C FTO c.46-24883T>C - IntronicSNV - 1/8
13-47238684-T-C LRCH1 c.453-4481T>C - IntronicSNV - 2/18
3-53635595-T-G CACNA1D c.484-49211T>G - IntronicSNV - 3/48
15-91416550-C-G FURIN c.1-2421C>G - IntronicSNV - 1/15
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
10-105599770-T-G SH3PXD2A c.72+15183A>C - IntronicSNV - 1/13
1-10796866-T-C CASZ1 c.-77+23892A>G - intron_variant - 2/15
6-43308363-C-T ZNF318 c.3496-123G>A - IntronicSNV - 9/9
13-47214690-T-C LRCH1 c.308-9646T>C - IntronicSNV - 1/18
13-47214690-T-G LRCH1 c.308-9646T>G - IntronicSNV - 1/18
19-10766798-A-C ILF3 c.-91+1635A>C - intron_variant - 1/17
19-10766798-A-T ILF3 c.-91+1635A>T - intron_variant - 1/17
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
2-26915624-G-C KCNK3 c.1-120G>C - 5-UTRSNV 1/2 -
3-138122122-C-A MRAS c.*1011C>A - 3-UTRSNV 6/6 -
1-156202860-A-G PMF1-BGLAP c.268-559A>G - IntronicSNV - 2/6
1-156202860-A-T PMF1-BGLAP c.268-559A>T - IntronicSNV - 2/6
13-47209347-G-T LRCH1 c.308-14989G>T - IntronicSNV - 1/18
17-59013488-T-C BCAS3 c.1088-11092T>C - IntronicSNV - 13/23
7-92239531-A-G CDK6 c.*4923T>C - 3-UTRSNV 8/8 -
13-47206582-T-C LRCH1 c.308-17754T>C - IntronicSNV - 1/18
13-47206582-T-A LRCH1 c.308-17754T>A - IntronicSNV - 1/18
1-150958836-A-G ANXA9 c.497A>G p.Asp166Gly Missense 8/14 -
10-105601210-C-G SH3PXD2A c.72+13743G>C - IntronicSNV - 1/13
7-92277315-G-A CDK6 c.647+23425C>T - IntronicSNV - 5/7
3-47927484-T-C MAP4 c.2000-8471A>G - IntronicSNV - 8/18
1-156168736-T-C SLC25A44 c.1-903T>C - IntronicSNV - 1/3
19-10775010-G-C ILF3 c.1-6272G>C - IntronicSNV - 1/17
19-10787744-C-G ILF3 c.412-95C>G - IntronicSNV - 4/17
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
15-91416550-C-A FURIN c.1-2421C>A - IntronicSNV - 1/15
10-105601210-C-T SH3PXD2A c.72+13743G>A - IntronicSNV - 1/13
7-116147908-C-T CAV2 c.*1733C>T - 3-UTRSNV 3/3 -
19-10765819-C-T ILF3 c.-91+656C>T - intron_variant - 1/17
7-116147908-C-G CAV2 c.*1733C>G - 3-UTRSNV 3/3 -
19-10774623-G-A ILF3 c.1-6659G>A - IntronicSNV - 1/17
2-183224127-G-A PDE1A c.102-94986C>T - IntronicSNV - 2/14
1-222823743-T-C MIA3 c.3720+21T>C - IntronicSNV - 9/27
13-47157872-C-T LRCH1 c.307+30034C>T - IntronicSNV - 1/18
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
15-91544076-A-G VPS33B c.1480-255T>C - IntronicSNV - 19/22
13-47212722-G-C LRCH1 c.308-11614G>C - IntronicSNV - 1/18
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
13-47225745-A-G LRCH1 c.452+1265A>G - IntronicSNV - 2/18
13-111040681-G-A COL4A2 c.180+30782G>A - IntronicSNV - 4/47
17-1570197-G-A PRPF8 c.3775-4750C>T - IntronicSNV - 24/42
19-10744807-C-T SLC44A2 c.818-625C>T - IntronicSNV - 10/21
3-41877414-T-C ULK4 c.1706A>G p.Lys569Arg Missense 18/37 -
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
19-52324216-G-C FPR3 c.1-2786G>C - IntronicSNV - 1/1
19-52324216-G-A FPR3 c.1-2786G>A - IntronicSNV - 1/1
17-1560735-T-C PRPF8 c.5506-680A>G - IntronicSNV - 34/42
11-65408937-C-G SIPA1 c.545C>G p.Ser182Cys Missense 2/16 -
4-155507590-T-C FGA c.991A>G p.Thr331Ala Missense 5/6 -
4-155507590-T-A FGA c.991A>T p.Thr331Ser Missense 5/6 -
11-65408937-C-T SIPA1 c.545C>T p.Ser182Phe Missense 2/16 -
1-156184268-T-C PMF1-BGLAP c.161+1301T>C - IntronicSNV - 1/6
19-10749236-T-C SLC44A2 c.1923+245T>C - IntronicSNV - 20/21
1-156202173-A-C PMF1-BGLAP c.224A>C p.Gln75Pro Missense 2/7 -
19-10749236-T-G SLC44A2 c.1923+245T>G - IntronicSNV - 20/21
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
7-92281953-C-T CDK6 c.647+18787G>A - IntronicSNV - 5/7
1-113038761-G-C WNT2B c.125+5058G>C - IntronicSNV - 2/5
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
8-118185025-G-A SLC30A8 c.*105G>A - 3-UTRSNV 8/8 -
1-156197380-C-T PMF1-BGLAP c.162-4731C>T - IntronicSNV - 1/6
1-156184831-G-A PMF1-BGLAP c.161+1864G>A - IntronicSNV - 1/6
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-156195888-C-A PMF1-BGLAP c.162-6223C>A - IntronicSNV - 1/6
1-156195888-C-T PMF1-BGLAP c.162-6223C>T - IntronicSNV - 1/6
3-23454790-A-G UBE2E2 c.228-86309A>G - IntronicSNV - 3/5
7-92250140-T-G CDK6 c.698+2210A>C - IntronicSNV - 6/7
6-43270151-C-T SLC22A7 c.1269C>T p.Ser423Ser Synonymous 7/10 -
6-12903957-A-G PHACTR1 c.251-149640A>G - IntronicSNV - 4/14
17-1567384-G-A PRPF8 c.3775-1937C>T - IntronicSNV - 24/42
13-47183068-G-A LRCH1 c.308-41268G>A - IntronicSNV - 1/18
9-139258462-A-G CARD9 c.*292T>C - 3-UTRSNV 13/13 -
13-47230194-C-T LRCH1 c.452+5714C>T - IntronicSNV - 2/18
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
16-53809247-G-A FTO c.46-34805G>A - IntronicSNV - 1/8
4-6289986-T-G WFS1 c.316-728T>G - IntronicSNV - 3/7
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
16-73069888-T-C ZFHX3 c.-50+11763A>G - intron_variant - 1/9
7-107244545-C-T BCAP29 c.589+3595C>T - IntronicSNV - 6/7
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
12-111865049-C-G SH2B3 c.732+8368C>G - IntronicSNV - 2/7
15-91420940-C-G FURIN c.667+95C>G - IntronicSNV - 7/15
1-169511755-T-C F5 c.2573A>G p.Lys858Arg Missense 13/25 -
1-10790536-A-G CASZ1 c.-76-24935T>C - intron_variant - 2/15
11-9751196-G-C SWAP70 c.898+198G>C - IntronicSNV - 6/11
11-9751196-G-A SWAP70 c.898+198G>A - IntronicSNV - 6/11
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
16-73068678-G-A ZFHX3 c.-50+12973C>T - intron_variant - 1/9
17-1559350-G-A PRPF8 c.5793+336C>T - IntronicSNV - 36/42
14-100145710-C-G HHIPL1 c.*3747C>G - IntergenicSNV 9/9 -
6-20679709-A-G CDKAL1 c.371+30101A>G - IntronicSNV - 5/15
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
19-2232221-A-G DOT1L c.*2430A>G - 3-UTRSNV 28/28 -
1-156189626-C-T PMF1-BGLAP c.161+6659C>T - IntronicSNV - 1/6
7-92277477-C-T CDK6 c.647+23263G>A - IntronicSNV - 5/7
13-47212722-G-T LRCH1 c.308-11614G>T - IntronicSNV - 1/18
19-10778647-A-G ILF3 c.1-2635A>G - IntronicSNV - 1/17
17-1567689-C-A PRPF8 c.3775-2242G>T - IntronicSNV - 24/42
13-47223835-G-A LRCH1 c.308-501G>A - IntronicSNV - 1/18
10-71245276-T-C TSPAN15 c.357+305T>C - IntronicSNV - 3/7
4-57838583-G-T NOA1 c.1515+731C>A - IntronicSNV - 3/6
6-161123451-T-C PLG c.49+66T>C - IntronicSNV - 1/18
4-114393250-G-A CAMK2D c.1034-6490C>T - IntronicSNV - 14/18
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
7-92256375-C-T CDK6 c.648-3975G>A - IntronicSNV - 5/7
1-156174475-T-C SLC25A44 c.626-3202T>C - IntronicSNV - 2/3
9-136141870-C-T ABO c.29-4299G>A - IntronicSNV - 1/7
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
13-111040798-A-C COL4A2 c.180+30899A>C - IntronicSNV - 4/47
13-47237213-T-C LRCH1 c.453-5952T>C - IntronicSNV - 2/18
X-66765212-A-G AR c.224A>G p.Gln75Arg Missense 1/8 -
10-105642803-A-C STN1 c.950-204T>G - IntronicSNV - 9/9
19-10752968-A-T SLC44A2 c.1924-75A>T - IntronicSNV - 20/21
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
8-41519248-T-A ANK1 c.5544+146A>T - IntronicSNV - 41/41
8-41519248-T-C ANK1 c.5544+146A>G - IntronicSNV - 41/41
7-92278116-G-A CDK6 c.647+22624C>T - IntronicSNV - 5/7
13-98943639-A-G FARP1 c.172-52377A>G - IntronicSNV - 2/26
1-113052923-C-G WNT2B c.126-4573C>G - IntronicSNV - 2/5
1-156190083-A-G PMF1-BGLAP c.161+7116A>G - IntronicSNV - 1/6
19-10767790-G-A ILF3 c.-91+2627G>A - intron_variant - 1/17
10-75855842-C-T VCL c.1743+229C>T - IntronicSNV - 12/20
19-10745764-T-G SLC44A2 c.1049+15T>G - IntronicSNV - 12/21
19-10745764-T-A SLC44A2 c.1049+15T>A - IntronicSNV - 12/21
19-10745764-T-C SLC44A2 c.1049+15T>C - IntronicSNV - 12/21
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
1-11862778-A-G MTHFR c.236+160T>C - IntronicSNV - 2/11
19-10788813-T-C ILF3 c.560-476T>C - IntronicSNV - 5/17
12-112007756-C-T ATXN2 c.252-14033G>A - intron_variant - 1/24
3-123082398-T-C ADCY5 c.1135-10970A>G - IntronicSNV - 1/20
13-47211879-G-A LRCH1 c.308-12457G>A - IntronicSNV - 1/18
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
7-92252203-C-G CDK6 c.698+147G>C - IntronicSNV - 6/7
7-92252203-C-T CDK6 c.698+147G>A - IntronicSNV - 6/7
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
13-47201226-C-T LRCH1 c.308-23110C>T - IntronicSNV - 1/18
17-1569845-A-AGAAAA PRPF8 c.3775-4395_3775-4394insCTTTT - IntronicInsertion - 24/42
11-72433098-A-C ARAP1 c.509+4567T>G - IntronicSNV - 3/34
11-46761055-G-A F2 c.*97G>A - 3-UTRSNV 14/14 -
1-204497913-G-C MDM4 c.154-1899G>C - IntronicSNV - 3/10
19-10750738-T-A SLC44A2 c.1923+1747T>A - IntronicSNV - 20/21
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
4-89741269-G-C FAM13A c.29+2858C>G - IntronicSNV - 1/17
4-89741269-G-A FAM13A c.29+2858C>T - IntronicSNV - 1/17
16-69640217-A-G NFAT5 c.-217-20089A>G - intron_variant - 2/15
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
7-151415041-A-G PRKAG2 c.467-42318T>C - IntronicSNV - 3/15
12-54443090-A-C HOXC4 c.-123-3854A>C - intron_variant - 1/3
13-47206196-C-A LRCH1 c.308-18140C>A - IntronicSNV - 1/18
13-47211861-A-C LRCH1 c.308-12475A>C - IntronicSNV - 1/18
17-1557881-C-G PRPF8 c.5988-571G>C - IntronicSNV - 37/42
17-1569353-T-A PRPF8 c.3775-3906A>T - IntronicSNV - 24/42
17-1569353-T-C PRPF8 c.3775-3906A>G - IntronicSNV - 24/42
16-53809247-G-C FTO c.46-34805G>C - IntronicSNV - 1/8
10-5254847-A-G AKR1C4 c.681-110A>G - IntronicSNV - 6/8
1-113046879-C-A WNT2B c.126-10617C>A - IntronicSNV - 2/5
1-156197614-T-G PMF1-BGLAP c.162-4497T>G - IntronicSNV - 1/6
13-47234659-T-C LRCH1 c.453-8506T>C - IntronicSNV - 2/18
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
17-1569353-T-G PRPF8 c.3775-3906A>C - IntronicSNV - 24/42
19-10767469-G-T ILF3 c.-91+2306G>T - intron_variant - 1/17
19-10767469-G-A ILF3 c.-91+2306G>A - intron_variant - 1/17
19-10767469-G-C ILF3 c.-91+2306G>C - intron_variant - 1/17
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
13-47206196-C-G LRCH1 c.308-18140C>G - IntronicSNV - 1/18
16-73048367-C-T ZFHX3 c.-50+33284G>A - intron_variant - 1/9
9-136149500-T-C ABO c.28+1078A>G - IntronicSNV - 1/7
19-2232221-A-T DOT1L c.*2430A>T - 3-UTRSNV 28/28 -
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24
17-1571903-G-A PRPF8 c.3774+4472C>T - IntronicSNV - 24/42
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
13-47216011-G-C LRCH1 c.308-8325G>C - IntronicSNV - 1/18
11-102710707-T-A MMP3 c.935+132A>T - IntronicSNV - 6/9
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
13-47211861-A-T LRCH1 c.308-12475A>T - IntronicSNV - 1/18
12-111932800-C-T ATXN2 c.1936-6216G>A - intron_variant - 14/24
19-10794793-C-G ILF3 c.2071+147C>G - IntronicSNV - 17/17
19-10794793-C-T ILF3 c.2071+147C>T - IntronicSNV - 17/17
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
13-47212961-G-A LRCH1 c.308-11375G>A - IntronicSNV - 1/18
7-92244422-C-T CDK6 c.*32G>A - 3-UTRSNV 8/8 -
12-111932800-C-A ATXN2 c.1936-6216G>T - intron_variant - 14/24
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
10-18707448-T-C CACNB2 c.168+16476T>C - IntronicSNV - 2/12
19-33899065-G-A PEPD c.818+3513C>T - IntronicSNV - 11/14
10-105595430-C-T SH3PXD2A c.72+19523G>A - IntronicSNV - 1/13
19-10742170-A-G SLC44A2 c.455A>G p.Gln152Arg Missense 7/22 -
10-105595430-C-A SH3PXD2A c.72+19523G>T - IntronicSNV - 1/13
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
3-169100886-T-C MECOM c.38-1574A>G - IntronicSNV - 1/16
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
10-71113988-C-T HK1 c.227-5665C>T - IntronicSNV - 2/17
13-47224681-A-G LRCH1 c.452+201A>G - IntronicSNV - 2/18
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
7-116358044-A-T MET c.1201-13678A>T - IntronicSNV - 2/20
7-116358044-A-G MET c.1201-13678A>G - IntronicSNV - 2/20
4-148427503-A-C EDNRA c.420+20250A>C - IntronicSNV - 2/5
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
19-10780789-A-G ILF3 c.1-493A>G - IntronicSNV - 1/17
6-151004770-G-C PLEKHG1 c.-99+32848G>C - intron_variant - 2/16
19-10780789-A-T ILF3 c.1-493A>T - IntronicSNV - 1/17
19-10750738-T-G SLC44A2 c.1923+1747T>G - IntronicSNV - 20/21
1-222823743-T-G MIA3 c.3720+21T>G - IntronicSNV - 9/27
15-91420973-T-C FURIN c.667+128T>C - IntronicSNV - 7/15
7-24944323-T-C OSBPL3 c.1-12232A>G - IntronicSNV - 1/22
1-156195205-C-T PMF1-BGLAP c.162-6906C>T - IntronicSNV - 1/6
15-48914926-A-G FBN1 c.165-9637T>C - IntronicSNV - 2/65
1-113044328-G-T WNT2B c.125+10625G>T - IntronicSNV - 2/5
10-105595430-C-G SH3PXD2A c.72+19523G>C - IntronicSNV - 1/13
4-187199005-T-C F11 c.755+1461T>C - IntronicSNV - 7/14
7-92258961-C-T CDK6 c.648-6561G>A - IntronicSNV - 5/7
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
13-47247985-T-G LRCH1 c.579+4694T>G - IntronicSNV - 3/18
7-92282624-C-T CDK6 c.647+18116G>A - IntronicSNV - 5/7
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
1-156184598-G-A PMF1-BGLAP c.161+1631G>A - IntronicSNV - 1/6
1-156171296-C-G SLC25A44 c.625+1033C>G - IntronicSNV - 2/3
17-1566454-G-A PRPF8 c.3775-1007C>T - IntronicSNV - 24/42
10-105610326-G-A SH3PXD2A c.72+4627C>T - IntronicSNV - 1/13
17-1566454-G-C PRPF8 c.3775-1007C>G - IntronicSNV - 24/42
3-169100886-T-A MECOM c.38-1574A>T - IntronicSNV - 1/16
1-10796547-G-A CASZ1 c.-77+24211C>T - intron_variant - 2/15
1-113189053-G-A CAPZA1 c.40-779G>A - IntronicSNV - 1/9
1-10796547-G-T CASZ1 c.-77+24211C>A - intron_variant - 2/15
1-156204653-C-G PMF1-BGLAP c.368+1134C>G - IntronicSNV - 3/6
1-156204653-C-T PMF1-BGLAP c.368+1134C>T - IntronicSNV - 3/6
16-73053022-T-A ZFHX3 c.-50+28629A>T - intron_variant - 1/9
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
19-10790143-G-C ILF3 c.747+275G>C - IntronicSNV - 7/17
1-156164885-C-G SLC25A44 c.-14+847C>G - intron_variant - 1/3