ClinVar Miner

List of variants reported as benign for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1883
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His) rs6872614 0.99676
NM_001001344.3(ATP2B3):c.2839+33A>G rs2980018 0.99672
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser) rs6892335 0.99601
NM_018896.5(CACNA1G):c.3792-87A>T rs198530 0.99492
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99259
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949 0.99114
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) rs721186 0.99062
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_001080414.4(CCDC88C):c.1527+128A>G rs1285766 0.98802
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly) rs4930388 0.98751
NM_016529.6(ATP8A2):c.3184-88G>A rs9511998 0.98717
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98446
NM_018075.5(ANO10):c.1915-5852T>C rs6441771 0.97895
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97758
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_002913.5(RFC1):c.4-26G>A rs4975007 0.97561
NM_003047.5(SLC9A1):c.2205A>G (p.Glu735=) rs4418629 0.97243
NM_003047.5(SLC9A1):c.*2A>G rs4266911 0.97068
NM_144992.5(VWA3B):c.3734G>A (p.Arg1245Lys) rs7587534 0.96955
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=) rs6442905 0.96699
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_001001344.3(ATP2B3):c.2326+11C>T rs3020957 0.95109
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_001447.3(FAT2):c.1527C>T (p.Pro509=) rs1465690 0.90395
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_020247.5(COQ8A):c.730+260T>C rs1888826 0.89455
NM_006946.4(SPTBN2):c.657-47G>A rs615536 0.89277
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001001344.3(ATP2B3):c.2839+14G>T rs3020959 0.88308
NM_032856.5(WDR73):c.591A>G (p.Ser197=) rs2271432 0.87940
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_016529.6(ATP8A2):c.2384+55C>T rs2296003 0.86506
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86134
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527 0.86130
NM_001961.4(EEF2):c.1150+15T>C rs36525 0.86128
NM_001447.3(FAT2):c.12507C>T (p.Ser4169=) rs7723266 0.86047
NM_001447.3(FAT2):c.5544T>C (p.Pro1848=) rs3797875 0.85860
NM_182961.4(SYNE1):c.17203-48G>A rs4112833 0.85656
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81362
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_182961.4(SYNE1):c.12352-39A>G rs9479298 0.80324
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_182961.4(SYNE1):c.1463+24G>T rs4523096 0.78969
NM_015378.4(VPS13D):c.8658A>C (p.Pro2886=) rs28551666 0.78408
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.76943
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_001001344.3(ATP2B3):c.664+41G>A rs762733 0.76378
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_033064.5(ATCAY):c.*2586A>G rs8104659 0.72881
NM_006946.4(SPTBN2):c.2816+23A>G rs532439 0.72382
NM_001447.3(FAT2):c.11898T>C (p.His3966=) rs2304028 0.72373
NM_001510.4(GRID2):c.1251T>G (p.Gly417=) rs1385405 0.72183
NM_001447.3(FAT2):c.11043T>C (p.Asp3681=) rs3822699 0.71549
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_001447.3(FAT2):c.10541T>C (p.Leu3514Ser) rs2053028 0.71072
NM_015215.4(CAMTA1):c.4884-121A>G rs9919223 0.70554
NM_001447.3(FAT2):c.10893G>A (p.Met3631Ile) rs6650971 0.70468
NM_001447.3(FAT2):c.10854C>T (p.Tyr3618=) rs3734046 0.70200
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_015215.4(CAMTA1):c.4690-44A>G rs10779689 0.68851
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=) rs7613447 0.68442
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_015215.4(CAMTA1):c.4689+56A>G rs12133253 0.67987
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_017872.5(THG1L):c.695T>C (p.Leu232Pro) rs2270812 0.67301
NM_001447.3(FAT2):c.12350C>T (p.Pro4117Leu) rs1105168 0.66830
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.66161
NM_001080414.4(CCDC88C):c.4630+78G>T rs2277509 0.65846
NM_016529.6(ATP8A2):c.1185+71A>G rs7332442 0.65665
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_182961.4(SYNE1):c.19471-18C>T rs6557210 0.64435
NM_001127222.2(CACNA1A):c.1198+48G>A rs2306348 0.64420
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830 0.63679
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_015215.4(CAMTA1):c.3658+104T>A rs1417986 0.62279
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_006297.3(XRCC1):c.1896A>G (p.Gln632=) rs3547 0.62026
NM_017872.5(THG1L):c.628-6T>C rs2270813 0.61536
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_144992.5(VWA3B):c.2029C>G (p.Leu677Val) rs7601049 0.61386
NM_016529.6(ATP8A2):c.2008-4G>C rs7335339 0.61047
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_004056.6(CA8):c.-54A>C rs10101374 0.60710
NM_004056.6(CA8):c.100+85T>C rs7002871 0.60674
NM_004056.6(CA8):c.-103T>C rs10086341 0.60622
NM_014053.4(FLVCR1):c.*1151A>G rs6682947 0.60512
NM_014053.4(FLVCR1):c.*339T>G rs12074192 0.60505
NM_014053.4(FLVCR1):c.*1609A>G rs12405742 0.59824
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_182961.4(SYNE1):c.11734-5T>G rs9478320 0.59305
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59301
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_152617.4(RNF168):c.559-46A>G rs7646174 0.58484
NM_018896.5(CACNA1G):c.1141-29A>G rs198550 0.58075
NM_173500.4(TTBK2):c.-250G>C rs12437637 0.57925
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_018896.5(CACNA1G):c.1925-56A>G rs198551 0.57767
NM_182961.4(SYNE1):c.11580+15C>T rs6908392 0.57402
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_015215.4(CAMTA1):c.510+35T>C rs1201529 0.56733
NM_144992.5(VWA3B):c.2653G>A (p.Val885Met) rs11889349 0.56331
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_002913.5(RFC1):c.2541A>G (p.Pro847=) rs2066786 0.55849
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001379286.1(ZNF423):c.567T>C (p.Arg189=) rs3803665 0.55755
NM_015215.4(CAMTA1):c.2914+6A>G rs3011926 0.55520
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) rs3809871 0.53472
NM_001447.3(FAT2):c.9213T>A (p.Thr3071=) rs1432643 0.53410
NM_020247.4(COQ8A):c.*815C>T rs10495274 0.53093
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_002913.5(RFC1):c.2808+36C>G rs2066788 0.52121
NM_016529.6(ATP8A2):c.3183+95C>T rs2249800 0.52080
NM_182961.4(SYNE1):c.3505-39A>C rs502268 0.51916
NM_016373.4(WWOX):c.1056+191744T>G rs2548861 0.51877
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.51676
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) rs2228611 0.50821
NM_001130823.3(DNMT1):c.1832+14A>G rs2114724 0.50605
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_182961.4(SYNE1):c.9147-13G>A rs214955 0.49738
NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln) rs3796129 0.49737
NM_024411.4(PDYN):c.-381A>G rs1997794 0.49716
NM_016373.4(WWOX):c.1057-40T>C rs384216 0.49671
NM_001130823.3(DNMT1):c.3394+34T>C rs2290684 0.49102
NM_001447.3(FAT2):c.2057T>C (p.Phe686Ser) rs9324700 0.49081
NM_001447.3(FAT2):c.2631T>C (p.Val877=) rs3734057 0.49054
NM_001447.3(FAT2):c.774G>A (p.Ser258=) rs3734060 0.49039
NM_001447.3(FAT2):c.2562G>A (p.Arg854=) rs3734058 0.49027
NM_001447.3(FAT2):c.2794C>T (p.Leu932=) rs10085060 0.49025
NM_001447.3(FAT2):c.2361C>T (p.Ile787=) rs3734059 0.49009
NM_001447.3(FAT2):c.1720C>T (p.Arg574Cys) rs1432862 0.48913
NM_182961.4(SYNE1):c.12795-12A>G rs9478314 0.48867
NM_182961.4(SYNE1):c.8177+20A>T rs214943 0.48837
NM_001447.3(FAT2):c.3375C>T (p.Ile1125=) rs2304054 0.48264
NM_182961.4(SYNE1):c.17346+38C>T rs9371581 0.48251
NM_018896.5(CACNA1G):c.1141-71C>T rs16949166 0.47704
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_182961.4(SYNE1):c.7713-49G>A rs214944 0.47302
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_001142633.3(PIK3R5):c.657+41T>C rs381198 0.46158
NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser) rs3734055 0.46145
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_014053.4(FLVCR1):c.-86C>T rs2201603 0.45780
NM_182961.4(SYNE1):c.9651+47C>T rs1873176 0.45478
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_020247.5(COQ8A):c.854-81A>G rs2297412 0.45192
NM_014053.4(FLVCR1):c.*2813G>A rs1284854 0.45117
NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu) rs2304053 0.44875
NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=) rs739925 0.44850
NM_198994.3(TGM6):c.*31T>C rs2076652 0.44571
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_182961.4(SYNE1):c.7029+45T>C rs177330 0.43899
NM_001001344.3(ATP2B3):c.1824-58G>A rs2239682 0.43153
NM_014053.4(FLVCR1):c.*2578G>A rs1284856 0.42748
NM_014053.4(FLVCR1):c.*2709T>C rs1284855 0.42731
NM_001329943.3(KIAA0586):c.4495+3795T>C rs28535751 0.42605
NM_018896.5(CACNA1G):c.489-56T>G rs12946808 0.42604
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=) rs12449998 0.42004
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415 0.41962
NM_024818.6(UBA5):c.1024+32T>C rs2305629 0.41651
NM_001080414.4(CCDC88C):c.60+8C>A rs3742654 0.41434
NM_001130698.2(TRPC3):c.117C>T (p.Gly39=) rs1396082 0.41213
NM_002913.5(RFC1):c.331+25G>T rs2306596 0.41060
NM_006297.3(XRCC1):c.618A>G (p.Pro206=) rs915927 0.40597
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_033064.5(ATCAY):c.*823C>T rs10424392 0.39386
NM_001020658.2(PUM1):c.2337T>C (p.Asn779=) rs2275741 0.39017
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_014053.4(FLVCR1):c.*1826C>T rs12567976 0.38865
NM_014053.4(FLVCR1):c.*2419G>A rs10864027 0.38756
NM_014053.4(FLVCR1):c.*1793C>T rs12567975 0.38742
NM_020247.5(COQ8A):c.1573-52G>A rs2297415 0.38619
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_182961.4(SYNE1):c.1351-24A>T rs4331993 0.38135
NM_033064.5(ATCAY):c.*3181G>A rs10412199 0.37873
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_006297.3(XRCC1):c.1481+9G>A rs25479 0.37650
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_014053.4(FLVCR1):c.*788C>T rs6670064 0.36556
NM_014053.4(FLVCR1):c.*626T>A rs11582817 0.36511
NM_017791.3(FLVCR2):c.-96T>C rs11845734 0.36446
NM_002739.5(PRKCG):c.686+14G>T rs3745405 0.36258
NM_024411.5(PDYN):c.*1030C>T rs2235749 0.36165
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_001130823.3(DNMT1):c.2721-45C>T rs2288349 0.35412
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_024411.5(PDYN):c.*743T>C rs910080 0.35005
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_016373.4(WWOX):c.108-12G>T rs67493355 0.34450
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=) rs2747662 0.33426
NM_001142633.3(PIK3R5):c.2383-27T>C rs4791765 0.31643
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_003047.5(SLC9A1):c.69T>C (p.Val23=) rs34306208 0.31344
NM_001020658.2(PUM1):c.364-44A>G rs4949331 0.31144
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_001142633.3(PIK3R5):c.2496-46A>G rs4791764 0.30344
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_001142633.3(PIK3R5):c.2299+18T>G rs9903447 0.29072
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_004115.4(FGF14):c.*1612G>T rs1046197 0.28765
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_016373.4(WWOX):c.-5C>T rs11545028 0.27934
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_182961.4(SYNE1):c.21656+13T>C rs9383976 0.26855
NM_182961.4(SYNE1):c.130-25C>T rs2141152 0.26785
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_018319.4(TDP1):c.-230-14C>A rs28365055 0.25524
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663 0.25304
NM_001020658.2(PUM1):c.3243-46_3243-45del rs56387244 0.24759
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_001142633.3(PIK3R5):c.2299+13G>A rs9902600 0.24618
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_016373.4(WWOX):c.606-17G>A rs4130513 0.24208
NM_001163809.2(WDR81):c.5506-19C>G rs62090051 0.23717
NM_182961.4(SYNE1):c.*182G>A rs12681 0.23624
NM_033071.4(SYNE1):c.*750G>T rs2813558 0.23608
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_001163809.2(WDR81):c.*56A>G rs2287322 0.22860
NM_014053.4(FLVCR1):c.*844T>C rs12565125 0.22460
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) rs9912287 0.21861
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014053.4(FLVCR1):c.*931C>T rs12567713 0.21766
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.21660
NM_014053.4(FLVCR1):c.*1106C>T rs12567728 0.21651
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_014053.4(FLVCR1):c.*673G>A rs41301027 0.21642
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_014053.4(FLVCR1):c.*2968G>A rs10902 0.21622
NM_001379286.1(ZNF423):c.2697T>C (p.Cys899=) rs3803667 0.21148
NM_015160.3(PMPCA):c.1200+33G>A rs4604565 0.21146
NM_014053.4(FLVCR1):c.*2908G>A rs1284853 0.21097
NM_014053.4(FLVCR1):c.*3313G>T rs15903 0.21069
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_018319.4(TDP1):c.*77C>T rs9488 0.20063
NM_182961.4(SYNE1):c.*103C>A rs2250122 0.19913
NM_003383.5(VLDLR):c.1313-17A>T rs6144 0.19776
NM_182961.4(SYNE1):c.20530-14G>A rs2296254 0.19082
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000391.4(TPP1):c.1075+42C>T rs2072651 0.18683
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_003383.5(VLDLR):c.1066+43C>T rs10967320 0.18162
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_014053.4(FLVCR1):c.*1600G>A rs55793082 0.16870
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_001378969.1(KCND3):c.1269+15C>A rs3738298 0.16477
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_033064.5(ATCAY):c.1074-14T>C rs10420591 0.16262
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_001142633.3(PIK3R5):c.205-21C>T rs92535 0.16172
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_003383.5(VLDLR):c.*551T>C rs8210 0.16040
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000391.4(TPP1):c.1426-78T>C rs1800723 0.15684
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_003383.5(VLDLR):c.1312+27G>A rs11793899 0.14831
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_006796.3(AFG3L2):c.-96G>C rs12327346 0.14255
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_015160.3(PMPCA):c.90C>T (p.Tyr30=) rs10870144 0.13348
NM_001382391.1(CSPP1):c.2392-17C>T rs58448590 0.13329
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_198994.3(TGM6):c.789G>A (p.Lys263=) rs6114033 0.13293
NM_001378452.1(ITPR1):c.1151+5C>G rs2306868 0.13045
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His) rs16933182 0.12797
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_024411.5(PDYN):c.*656T>C rs10485703 0.12279
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054 0.10566
NM_003383.5(VLDLR):c.*180G>A rs3421 0.10555
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_018896.5(CACNA1G):c.6309C>T (p.Leu2103=) rs2301835 0.10241
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys) rs41278952 0.09746
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_182961.4(SYNE1):c.17202+24G>A rs12662994 0.09437
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_014053.4(FLVCR1):c.*1940G>A rs6697126 0.09080
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) rs1340989 0.08733
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_173500.4(TTBK2):c.-8G>A rs16957250 0.08720
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_017791.3(FLVCR2):c.-71C>T rs11849590 0.08526
NM_014053.4(FLVCR1):c.*353A>G rs6679775 0.08452
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_198994.3(TGM6):c.1093+5G>A rs6137891 0.07885
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly) rs72750868 0.06616
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_018319.4(TDP1):c.-21C>T rs34348197 0.06559
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_022464.5(SIL1):c.-6C>G rs11555154 0.06144
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_002739.5(PRKCG):c.*428C>G rs57483118 0.06034
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_018319.4(TDP1):c.*1448G>A rs34004710 0.05962
NM_018319.4(TDP1):c.*1452C>T rs34923595 0.05957
NM_018319.4(TDP1):c.*1460C>G rs35944390 0.05950
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522 0.05945
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
NM_182961.4(SYNE1):c.19104+17A>G rs17082389 0.05731
NM_001378452.1(ITPR1):c.*777C>T rs41315884 0.05676
NM_001378452.1(ITPR1):c.*847G>A rs41304181 0.05655
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_018075.5(ANO10):c.*432G>T rs17075612 0.05474
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_018319.4(TDP1):c.-224A>G rs35439694 0.05316
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_001379286.1(ZNF423):c.1569T>C (p.Asn523=) rs13336762 0.05236
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_182961.4(SYNE1):c.10145+12T>C rs112401775 0.04924
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_018319.4(TDP1):c.-177C>T rs35132667 0.04596
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_001447.3(FAT2):c.10350G>A (p.Leu3450=) rs36092108 0.04171
NM_002222.6(ITPR1):c.*1385A>G rs9875113 0.04159
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_002739.5(PRKCG):c.*596C>T rs60891969 0.04062
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_198994.3(TGM6):c.477C>T (p.Ser159=) rs16984872 0.03978
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377 0.03424
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03417
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) rs307955 0.03300
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_016373.4(WWOX):c.941G>A (p.Arg314His) rs73572838 0.03269
NM_001378452.1(ITPR1):c.-81A>G rs13319720 0.03249
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) rs2242244 0.03204
NM_018319.4(TDP1):c.*393T>C rs7150480 0.03142
NM_033064.5(ATCAY):c.*1586T>C rs10411454 0.03139
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_033064.5(ATCAY):c.*806A>G rs73919392 0.03009
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met) rs34348991 0.02971
NM_001382391.1(CSPP1):c.-34C>G rs117210747 0.02944
NM_033064.5(ATCAY):c.*976C>G rs73919393 0.02901
NM_033064.5(ATCAY):c.*1542C>T rs10404967 0.02886
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu) rs73894929 0.02857
NM_001379286.1(ZNF423):c.1869G>A (p.Pro623=) rs16947741 0.02845
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_014053.4(FLVCR1):c.*1751C>T rs187971996 0.02794
NM_018075.5(ANO10):c.*196C>A rs73831274 0.02784
NM_001379286.1(ZNF423):c.1910A>G (p.Asn637Ser) rs34214571 0.02773
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02755
NM_018075.5(ANO10):c.*444C>T rs114518528 0.02745
NM_001378452.1(ITPR1):c.*1156A>C rs73099961 0.02738
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02717
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752 0.02687
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_014053.4(FLVCR1):c.*377T>C rs41258034 0.02608
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_001379286.1(ZNF423):c.3850-9C>T rs78514142 0.02527
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568 0.02524
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_001378452.1(ITPR1):c.*643A>T rs41305987 0.02460
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) rs74944733 0.02435
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_182961.4(SYNE1):c.7556+14A>G rs78034368 0.02406
NM_001378452.1(ITPR1):c.*47G>C rs74998763 0.02401
NM_001378452.1(ITPR1):c.*48T>G rs77764633 0.02400
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_152617.4(RNF168):c.972G>A (p.Glu324=) rs35405598 0.02354
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_018075.5(ANO10):c.486C>T (p.Leu162=) rs34829628 0.02348
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_014053.4(FLVCR1):c.*891A>G rs41301029 0.02342
NM_024411.5(PDYN):c.*369A>G rs73894108 0.02261
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_182961.4(SYNE1):c.*583A>G rs3756933 0.02216
NM_033064.5(ATCAY):c.*1036G>C rs73919394 0.02206
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) rs1808140 0.02204
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611 0.02142
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_004115.4(FGF14):c.*471A>C rs75498912 0.02130
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_024411.5(PDYN):c.*556C>T rs73571349 0.02074
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_018319.4(TDP1):c.*539G>A rs35090050 0.02032
NM_014053.4(FLVCR1):c.*855T>C rs564661630 0.01999
NM_033064.5(ATCAY):c.*507G>C rs116813246 0.01949
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_017791.3(FLVCR2):c.*991T>C rs117346030 0.01931
NM_024411.5(PDYN):c.*138A>G rs111525766 0.01924
NM_006796.3(AFG3L2):c.*2G>A rs113981080 0.01903
NM_001379286.1(ZNF423):c.3351G>A (p.Pro1117=) rs113531514 0.01899
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_001378969.1(KCND3):c.375G>A (p.Pro125=) rs2289723 0.01862
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_004115.4(FGF14):c.*1063G>A rs58555898 0.01834
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_017791.3(FLVCR2):c.*1040C>T rs8017131 0.01752
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr) rs35126362 0.01730
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_033064.5(ATCAY):c.*2026G>A rs147402942 0.01676
NM_018319.4(TDP1):c.-230-4G>T rs28365053 0.01666
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_033064.5(ATCAY):c.*1423T>A rs184437292 0.01635
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) rs76567936 0.01632
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395 0.01595
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_017791.3(FLVCR2):c.*1098C>A rs8017287 0.01484
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) rs144601717 0.01477
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_033064.5(ATCAY):c.*1235T>C rs148116098 0.01449
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=) rs34748547 0.01444
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_198994.3(TGM6):c.989+11C>T rs6048684 0.01409
NM_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198 0.01334
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_004115.4(FGF14):c.481T>C (p.Leu161=) rs77082831 0.01311
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met) rs35071969 0.01288
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037 0.01255
NM_006946.4(SPTBN2):c.2473= (p.Ser825=) rs4930388 0.01249
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=) rs17215458 0.01243
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_016373.4(WWOX):c.351C>G (p.Leu117=) rs34944716 0.01231
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553 0.01209
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945 0.01193
NM_182961.4(SYNE1):c.10145+18C>G rs79796456 0.01179
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902 0.01170
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) rs61741506 0.01135
NM_033064.5(ATCAY):c.*1190G>A rs143684746 0.01134
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845 0.01118
NM_001378969.1(KCND3):c.1519-4G>T rs72548732 0.01109
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_152617.4(RNF168):c.307G>A (p.Asp103Asn) rs149773824 0.01095
NM_033064.5(ATCAY):c.866+6A>G rs116660680 0.01088
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_001329943.3(KIAA0586):c.2553+11G>A rs78511804 0.01083
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_033064.5(ATCAY):c.810C>T (p.Ile270=) rs61746441 0.01075
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645 0.01047
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_018319.4(TDP1):c.*799A>G rs35437984 0.01042
NM_001378452.1(ITPR1):c.5353+4C>T rs60849754 0.01038
NM_024411.5(PDYN):c.*1396C>T rs6106013 0.01038
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_004115.4(FGF14):c.*31G>A rs149661933 0.01007
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_033064.5(ATCAY):c.*2514A>G rs142048723 0.00992
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_024411.5(PDYN):c.*1029A>G rs115095625 0.00982
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_017791.3(FLVCR2):c.-111T>C rs80001297 0.00973
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 0.00969
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471 0.00967
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_016373.4(WWOX):c.885G>A (p.Arg295=) rs79771882 0.00946
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834 0.00944
NM_173500.4(TTBK2):c.*1162T>A rs79592696 0.00943
NM_014053.4(FLVCR1):c.*1544A>G rs6685793 0.00936
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_033064.5(ATCAY):c.*486A>C rs115839391 0.00924
NM_018075.5(ANO10):c.-90C>T rs565644253 0.00916
NM_033064.5(ATCAY):c.*3154C>T rs116311313 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_006796.3(AFG3L2):c.*109A>C rs114203162 0.00915
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_001378452.1(ITPR1):c.3327+12C>T rs116022052 0.00894
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_002739.5(PRKCG):c.*199C>T rs114091656 0.00888
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) rs114177619 0.00835
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_182961.4(SYNE1):c.25246+18A>C rs11756479 0.00816
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_001378452.1(ITPR1):c.1251+10G>A rs75936691 0.00811
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697 0.00806
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_001378452.1(ITPR1):c.3327+4G>A rs2306878 0.00785
NM_001382391.1(CSPP1):c.3110-11A>G rs148930801 0.00781
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) rs34616316 0.00781
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly) rs73937614 0.00778
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_182961.4(SYNE1):c.12079-12G>T rs73783853 0.00771
NM_024411.5(PDYN):c.*356T>C rs114429882 0.00768
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_001378452.1(ITPR1):c.2204+13C>T rs141519515 0.00759
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr) rs41278954 0.00753
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_152617.4(RNF168):c.1481C>T (p.Pro494Leu) rs35132476 0.00738
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_033064.5(ATCAY):c.*2394C>T rs10406812 0.00732
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556 0.00731
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714
NM_004115.4(FGF14):c.*744C>A rs79379700 0.00714
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588 0.00694
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_033064.5(ATCAY):c.*1180C>T rs140608538 0.00683
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119 0.00667
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484 0.00664
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150 0.00658
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_182961.4(SYNE1):c.9972+19A>G rs77322999 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026 0.00650
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545 0.00649
NM_003383.5(VLDLR):c.449-12C>T rs73640152 0.00648
NM_182961.4(SYNE1):c.25120-16G>T rs139671151 0.00648
NM_024411.5(PDYN):c.*1443G>A rs148395893 0.00643
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565 0.00639
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260 0.00633
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_001382391.1(CSPP1):c.3220+13A>G rs139491415 0.00625
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=) rs6674962 0.00613
NM_006796.3(AFG3L2):c.-71C>T rs571340907 0.00605
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_022464.5(SIL1):c.454-6C>T rs58624842 0.00601
NM_014053.4(FLVCR1):c.*500G>A rs41301023 0.00597
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757 0.00596
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_001379286.1(ZNF423):c.3061C>T (p.Leu1021=) rs35529066 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_033064.5(ATCAY):c.*7G>A rs60814801 0.00577
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=) rs35047189 0.00575
NM_198994.3(TGM6):c.1657G>A (p.Val553Met) rs74338361 0.00574
NM_173500.4(TTBK2):c.*966C>T rs145576687 0.00571
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680 0.00566
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_004115.4(FGF14):c.*554G>A rs141793298 0.00557
NM_017791.3(FLVCR2):c.*573C>T rs116699854 0.00556
NM_017791.3(FLVCR2):c.953-14G>A rs115200097 0.00554
NM_152617.4(RNF168):c.1284A>G (p.Lys428=) rs78211871 0.00550
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_018319.4(TDP1):c.*1105A>G rs34815305 0.00542
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982 0.00528
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=) rs73784326 0.00525
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211 0.00501
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_001379286.1(ZNF423):c.1194G>A (p.Pro398=) rs61747467 0.00494
NM_006796.3(AFG3L2):c.-137G>C rs191000529 0.00494
NM_014053.4(FLVCR1):c.*3241C>T rs113198161 0.00493
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738 0.00477
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_001379286.1(ZNF423):c.1986C>T (p.His662=) rs75294107 0.00469
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001379286.1(ZNF423):c.100+13G>A rs143660882 0.00463
NM_017791.3(FLVCR2):c.*254T>C rs115212564 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_001379286.1(ZNF423):c.2562C>A (p.Pro854=) rs12599354 0.00459
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_173500.4(TTBK2):c.980+8C>A rs143836514 0.00447
NM_182961.4(SYNE1):c.-391-9T>C rs138926036 0.00447
NM_001376.5(DYNC1H1):c.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716 0.00438
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714 0.00431
NM_018319.4(TDP1):c.*598G>A rs34083314 0.00430
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe) rs141796889 0.00430
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys) rs146431326 0.00429
NM_018319.4(TDP1):c.1317+11G>A rs36009827 0.00423
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00413
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055 0.00412
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367 0.00410
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146 0.00410
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_001379286.1(ZNF423):c.2328C>T (p.His776=) rs73565356 0.00402
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_001379286.1(ZNF423):c.3226C>A (p.Leu1076Met) rs79706004 0.00398
NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys) rs6790173 0.00395
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_014053.4(FLVCR1):c.*1317A>G rs145011972 0.00394
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_001378969.1(KCND3):c.957C>G (p.Ser319=) rs61733426 0.00386
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852 0.00381
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_001382391.1(CSPP1):c.100-13A>G rs78076942 0.00359
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly) rs141930579 0.00348
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654 0.00339
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_014053.4(FLVCR1):c.*3032G>T rs76321605 0.00330
NM_182961.4(SYNE1):c.17542-14A>G rs111686341 0.00330
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977 0.00325
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_014053.4(FLVCR1):c.*2540T>C rs79275553 0.00322
NM_033064.4(ATCAY):c.-390A>G rs140876148 0.00318
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923 0.00314
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715 0.00313
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773 0.00302
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu) rs73693125 0.00295
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_001382391.1(CSPP1):c.484-15T>G rs199671558 0.00290
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala) rs56017612 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_016373.4(WWOX):c.*3G>T rs140060332 0.00275
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645 0.00274
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr) rs146515654 0.00267
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_182961.4(SYNE1):c.17203-5C>T rs886044642 0.00254
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550 0.00251
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=) rs145249947 0.00245
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_001382391.1(CSPP1):c.3109+18C>T rs139599638 0.00242
NM_198994.3(TGM6):c.*87C>A rs45544131 0.00240
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_152617.4(RNF168):c.508G>A (p.Glu170Lys) rs114025031 0.00235
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) rs10112748 0.00231
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_182961.4(SYNE1):c.24297C>T (p.Ile8099=) rs142222560 0.00227
NM_001378452.1(ITPR1):c.*979A>T rs147782346 0.00226
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_001379286.1(ZNF423):c.2133G>A (p.Ser711=) rs143934881 0.00221
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001044385.3(TMEM237):c.554-15G>A rs144051344 0.00213
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.396-14C>T rs74411816 0.00210
NM_001379286.1(ZNF423):c.2013G>A (p.Ala671=) rs143468235 0.00207
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678 0.00205
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198 0.00204
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00203
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=) rs28565126 0.00201
NM_001329943.3(KIAA0586):c.4496-16C>T rs111487478 0.00195
NM_182961.4(SYNE1):c.23461-6A>C rs145098375 0.00194
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys) rs141304687 0.00191
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334 0.00191
NM_002739.5(PRKCG):c.*670T>C rs186000310 0.00190
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=) rs2242243 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001378969.1(KCND3):c.627G>C (p.Thr209=) rs149299911 0.00182
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_001378452.1(ITPR1):c.*1196T>C rs565045968 0.00178
NM_001379286.1(ZNF423):c.312C>T (p.Asp104=) rs117266679 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) rs138044459 0.00178
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) rs201008264 0.00173
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147 0.00173
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_001379286.1(ZNF423):c.1326G>A (p.Ala442=) rs16947743 0.00172
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386 0.00171
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_198994.3(TGM6):c.2052G>A (p.Val684=) rs149369357 0.00165
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_001379286.1(ZNF423):c.3336G>A (p.Val1112=) rs61739947 0.00154
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp) rs140719871 0.00149
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_173500.4(TTBK2):c.*581A>T rs575564250 0.00142
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_015046.7(SETX):c.5548+19A>G rs201294921 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_033064.5(ATCAY):c.*1653G>T rs543950349 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val) rs144199562 0.00136
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser) rs138807504 0.00136
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp) rs201146062 0.00135
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465 0.00135
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_182961.4(SYNE1):c.18574-13T>C rs148664724 0.00134
NM_182961.4(SYNE1):c.3027+17C>T rs375786325 0.00134
NM_006796.3(AFG3L2):c.-32C>T rs556432963 0.00133
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_015046.7(SETX):c.6936-11A>G rs146193654 0.00129
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417 0.00128
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057 0.00127
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_001382391.1(CSPP1):c.1245+15C>T rs200874913 0.00125
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005 0.00124
NM_022464.5(SIL1):c.865-7C>T rs141796576 0.00121
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_182961.4(SYNE1):c.9651+12G>A rs143173603 0.00111
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357 0.00107
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_182961.4(SYNE1):c.21523-8T>G rs187773880 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_001329943.3(KIAA0586):c.1130-16A>C rs187748315 0.00105
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=) rs145503941 0.00101
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly) rs201316149 0.00101
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_001379286.1(ZNF423):c.3602-16C>T rs200838088 0.00099
NM_002739.5(PRKCG):c.642G>A (p.Thr214=) rs77550964 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_001329943.3(KIAA0586):c.200-14C>A rs373882617 0.00098
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) rs61738360 0.00098
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_182961.4(SYNE1):c.14281A>G (p.Arg4761Gly) rs187910661 0.00098
NM_001329943.3(KIAA0586):c.340+15T>C rs139305633 0.00096
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_173500.3(TTBK2):c.-413G>C rs528520159 0.00096
NM_182961.4(SYNE1):c.9507+19A>G rs200381107 0.00096
NM_182961.4(SYNE1):c.581+18G>A rs111309750 0.00095
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00094
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924 0.00093
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_006796.3(AFG3L2):c.400-14C>G rs192002414 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=) rs201499268 0.00084
NM_014053.4(FLVCR1):c.*279T>C rs17019875 0.00084
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_182961.4(SYNE1):c.10145+16G>A rs150983931 0.00083
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119 0.00081
NM_001382391.1(CSPP1):c.2539-12T>A rs185726462 0.00080
NM_001382391.1(CSPP1):c.924-11G>A rs149756527 0.00080
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala) rs144094215 0.00080
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=) rs139838755 0.00078
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=) rs140402012 0.00077
NM_001382391.1(CSPP1):c.3470-20G>T rs148896413 0.00076
NM_016373.4(WWOX):c.410-4A>T rs183410581 0.00076
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_001379286.1(ZNF423):c.1560C>T (p.Asp520=) rs149371639 0.00073
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_033064.5(ATCAY):c.-241C>T rs376727951 0.00071
NM_182961.4(SYNE1):c.4008+19G>A rs202076757 0.00071
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568 0.00063
NM_001329943.3(KIAA0586):c.1583+15G>A rs201295491 0.00061
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) rs56211557 0.00059
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_001382391.1(CSPP1):c.1023-20del rs550798896 0.00056
NM_014053.4(FLVCR1):c.*2443C>T rs117380165 0.00056
NM_182961.4(SYNE1):c.3669+10T>C rs187598275 0.00056
NM_001378452.1(ITPR1):c.*121G>C rs146903558 0.00055
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_001329943.3(KIAA0586):c.2944+8A>C rs571616049 0.00054
NM_182961.4(SYNE1):c.1730-7G>A rs367603152 0.00054
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_182961.4(SYNE1):c.9651+20G>A rs200951972 0.00053
NM_014053.4(FLVCR1):c.*1920T>A rs115914498 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_001379286.1(ZNF423):c.3180G>A (p.Ala1060=) rs117592972 0.00048
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_182961.4(SYNE1):c.7713-12C>T rs550804556 0.00046
NM_002222.6(ITPR1):c.*1533G>A rs377290142 0.00044
NM_001329943.3(KIAA0586):c.1129+11del rs142477754 0.00040
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620 0.00039
NM_004115.4(FGF14):c.*176C>G rs191705440 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249 0.00039
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810 0.00039
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) rs148428571 0.00038
NM_182961.4(SYNE1):c.9807+14C>G rs182453040 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=) rs536603405 0.00037
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=) rs201621621 0.00037
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=) rs147262533 0.00036
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167 0.00035
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg) rs199921065 0.00034
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00029
NM_001379286.1(ZNF423):c.3012C>G (p.Pro1004=) rs200127497 0.00029
NM_001379286.1(ZNF423):c.630C>T (p.Ala210=) rs186529267 0.00029
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154 0.00029
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00029
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659 0.00027
NM_182961.4(SYNE1):c.12529-12G>A rs367782368 0.00027
NM_182961.4(SYNE1):c.3396-17T>A rs144838502 0.00027
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=) rs188913729 0.00027
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902 0.00026
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) rs369470593 0.00026
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly) rs142134306 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00025
NM_182961.4(SYNE1):c.23791-13C>T rs371245873 0.00025
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_182961.4(SYNE1):c.24977-1702G>A rs767684285 0.00024
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu) rs183670042 0.00024
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_001378452.1(ITPR1):c.*1008A>G rs141084091 0.00022
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00022
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=) rs370157764 0.00022
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala) rs138195434 0.00022
NM_001378969.1(KCND3):c.870G>T (p.Arg290=) rs200894990 0.00021
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=) rs150924296 0.00021
NM_017791.3(FLVCR2):c.*910C>A rs549933844 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001378969.1(KCND3):c.789C>T (p.Asp263=) rs373264592 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745 0.00019
NM_182961.4(SYNE1):c.24642+3A>G rs117346210 0.00019
NM_182961.4(SYNE1):c.7030-16T>C rs202040448 0.00019
NM_001378969.1(KCND3):c.459G>A (p.Ser153=) rs755206508 0.00018
NM_173500.4(TTBK2):c.*490T>C rs142589086 0.00018
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly) rs141178275 0.00018
NM_002739.5(PRKCG):c.286-12C>A rs143352499 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_182961.4(SYNE1):c.7713-4T>C rs571742202 0.00017
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_001379286.1(ZNF423):c.1827C>T (p.Ala609=) rs376118736 0.00016
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.498+14T>C rs753336459 0.00016
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_024411.5(PDYN):c.*836C>G rs80315813 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys) rs147844088 0.00015
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=) rs185441376 0.00013
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys) rs200532657 0.00012
NM_015046.7(SETX):c.3505A>G (p.Met1169Val) rs573849874 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_182961.4(SYNE1):c.19692+20G>C rs140078199 0.00012
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00012
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147 0.00011
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=) rs375801584 0.00011
NM_001378452.1(ITPR1):c.7737C>T (p.Leu2579=) rs148734757 0.00011
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194 0.00011
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 0.00011
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met) rs140892948 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg) rs897453553 0.00010
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_182961.4(SYNE1):c.1729+14C>T rs76417048 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001378969.1(KCND3):c.1269+13C>T rs72548726 0.00009
NM_015046.7(SETX):c.5852A>G (p.His1951Arg) rs146593865 0.00009
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) rs76204496 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_024411.5(PDYN):c.*78A>G rs537887207 0.00009
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=) rs192936944 0.00009
NM_182961.4(SYNE1):c.21195+12A>G rs200930593 0.00009
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly) rs371687197 0.00008
NM_015046.7(SETX):c.5842A>G (p.Met1948Val) rs762267386 0.00008
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu) rs147705644 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241 0.00008
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_002739.5(PRKCG):c.498G>T (p.Arg166=) rs148370843 0.00007
NM_004115.4(FGF14):c.*567G>C rs546536488 0.00007
NM_006796.2(AFG3L2):c.-151C>T rs554944971 0.00007
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_015046.7(SETX):c.1227A>G (p.Leu409=) rs769913556 0.00006
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) rs761877146 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.4136A>G (p.His1379Arg) rs181158146 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val) rs376524608 0.00006
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr) rs202121071 0.00006
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.93A>G (p.Gln31=) rs201795631 0.00006
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) rs369907002 0.00006
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly) rs764588235 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_024411.5(PDYN):c.*1457C>G rs529380614 0.00006
NM_024411.5(PDYN):c.*225T>C rs569014510 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=) rs199982600 0.00005
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 0.00005
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=) rs190703406 0.00005
NM_001379286.1(ZNF423):c.1131C>T (p.Ser377=) rs369662414 0.00005
NM_001379286.1(ZNF423):c.1365G>C (p.Leu455=) rs548578929 0.00005
NM_001379286.1(ZNF423):c.453C>T (p.Cys151=) rs569824346 0.00005
NM_014053.4(FLVCR1):c.*3264T>C rs374214375 0.00005
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile) rs61745659 0.00005
NM_015046.7(SETX):c.718+14C>A rs762900574 0.00005
NM_015046.7(SETX):c.991A>G (p.Ile331Val) rs572884359 0.00005
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301 0.00005
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741 0.00005
NM_198994.3(TGM6):c.883G>A (p.Val295Met) rs200341133 0.00005
NM_001044385.3(TMEM237):c.274+11A>G rs200487330 0.00004
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=) rs544767440 0.00004
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724 0.00004
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_001379286.1(ZNF423):c.3517-18T>C rs377719857 0.00004
NM_001382391.1(CSPP1):c.924-9G>A rs199910808 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) rs764995848 0.00004
NM_015046.7(SETX):c.2234G>A (p.Arg745His) rs373933140 0.00004
NM_015046.7(SETX):c.2543T>G (p.Val848Gly) rs567711722 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr) rs760535401 0.00004
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) rs376381668 0.00004
NM_015046.7(SETX):c.377A>G (p.His126Arg) rs368932301 0.00004
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) rs761119964 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly) rs770469636 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.77C>T (p.Pro26Leu) rs377617692 0.00004
NM_015046.7(SETX):c.986G>A (p.Arg329Gln) rs376077293 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile) rs756339242 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser) rs138323389 0.00004
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met) rs1045410944 0.00003
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001378452.1(ITPR1):c.625-14A>T rs368114873 0.00003
NM_001379286.1(ZNF423):c.2268G>T (p.Lys756Asn) rs750555513 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) rs761725498 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.2924C>T (p.Thr975Met) rs200722368 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe) rs139559547 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695 0.00003
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) rs376678876 0.00003
NM_015046.7(SETX):c.503G>A (p.Arg168Gln) rs772017103 0.00003
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001 0.00003
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala) rs372993859 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_001044385.3(TMEM237):c.74+16A>G rs538615771 0.00002
NM_001378452.1(ITPR1):c.-244G>A rs577585180 0.00002
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=) rs563347395 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala) rs1481664998 0.00002
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) rs200459144 0.00002
NM_015046.7(SETX):c.2425A>G (p.Ile809Val) rs906452681 0.00002
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr) rs765768857 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu) rs773081186 0.00002
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) rs747804357 0.00002
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr) rs202047872 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.477T>A (p.Phe159Leu) rs1473646250 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys) rs747913385 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp) rs373828657 0.00002
NM_000370.3(TTPA):c.471C>A (p.Ile157=) rs572263038 0.00001
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=) rs574658488 0.00001
NM_001329943.3(KIAA0586):c.4495+3802G>A rs541632685 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.7701+3A>G rs533303665 0.00001
NM_001378969.1(KCND3):c.624C>T (p.Gly208=) rs772815178 0.00001
NM_001378969.1(KCND3):c.786C>T (p.Ile262=) rs369172530 0.00001
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=) rs199923715 0.00001
NM_004115.4(FGF14):c.608-10C>T rs574476283 0.00001
NM_006796.3(AFG3L2):c.215-5A>C rs371046479 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.6502-9C>T rs545190212 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1714C>G (p.Leu572Val) rs1482836809 0.00001
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys) rs773035724 0.00001
NM_015046.7(SETX):c.1889C>T (p.Thr630Met) rs749132753 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.208A>G (p.Ile70Val) rs747469176 0.00001
NM_015046.7(SETX):c.2119A>G (p.Ile707Val) rs1419145387 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) rs780121182 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2427C>G (p.Ile809Met) rs765654690 0.00001
NM_015046.7(SETX):c.245G>A (p.Gly82Glu) rs201864041 0.00001
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala) rs1375463032 0.00001
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015046.7(SETX):c.301A>G (p.Ile101Val) rs376848704 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile) rs773068299 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp) rs200072123 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp) rs375796832 0.00001
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe) rs750526955 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val) rs558075773 0.00001
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys) rs752179261 0.00001
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser) rs567825753 0.00001
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys) rs762808367 0.00001
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn) rs770527045 0.00001
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr) rs766799310 0.00001
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu) rs1249423284 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg) rs377620145 0.00001
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser) rs747493129 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val) rs546932016 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.64G>A (p.Ala22Thr) rs756600708 0.00001
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu) rs752107891 0.00001
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met) rs201629099 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg) rs755711135 0.00001
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg) rs756715534 0.00001
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser) rs1240232139 0.00001
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys) rs145345675 0.00001
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala) rs905773255 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val) rs144706487 0.00001
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly) rs779793402 0.00001
NM_015046.7(SETX):c.808A>G (p.Ile270Val) rs1387745582 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.964G>A (p.Ala322Thr) rs540348550 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015215.4(CAMTA1):c.234+5A>T rs547105933 0.00001
NM_016373.4(WWOX):c.538A>G (p.Met180Val) rs569297468 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NM_000333.4:c.89ACG[7_17] rs193922929
NM_000370.3(TTPA):c.*576_*578del rs10543235
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_001001344.3(ATP2B3):c.3115C>T (p.Leu1039Phe)
NM_001001344.3(ATP2B3):c.3160-57A>G rs4243536
NM_001001344.3(ATP2B3):c.665-116A>G rs2980012
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001044385.3(TMEM237):c.1159+17del rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.678-20_678-17del rs754336127
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) rs16054
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup) rs193922926
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup) rs751421308
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) rs144962740
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3:c.432-11_432-10insA
NM_001178020.3(BEAN1):c.90T>G (p.His30Gln)
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_001271696.3(ABCB7):c.168+69C>G rs1039123
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1584-5del
NM_001329943.3(KIAA0586):c.199+23del rs537837939
NM_001329943.3(KIAA0586):c.2944+24dup rs768128741
NM_001329943.3(KIAA0586):c.2945-9del
NM_001329943.3(KIAA0586):c.3144+15del
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.340+25dup rs770708728
NM_001329943.3(KIAA0586):c.340+6del
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
NM_001329943.3(KIAA0586):c.962-10dup rs1431902070
NM_001365792.1(DAB1):c.-136-4G>T
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del) rs748138546
NM_001378452.1(ITPR1):c.-315C>T rs572878578
NM_001378452.1(ITPR1):c.-341A>T rs565843811
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=) rs555819278
NM_001378452.1(ITPR1):c.4407+44GT[18] rs35795762
NM_001378452.1(ITPR1):c.951+35G>C rs6442895
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001378969.1(KCND3):c.1106+15G>A
NM_001378969.1(KCND3):c.1107-47915C>T rs1318670
NM_001378969.1(KCND3):c.1372-6dup rs769051410
NM_001378969.1(KCND3):c.1518+12del
NM_001378969.1(KCND3):c.633G>T (p.Pro211=) rs35131566
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576
NM_001382391.1(CSPP1):c.-10-5del
NM_001382391.1(CSPP1):c.-10-5dup rs536000854
NM_001382391.1(CSPP1):c.1023-7dup rs781187284
NM_001382391.1(CSPP1):c.1288-12dup rs759923250
NM_001382391.1(CSPP1):c.1619-8del
NM_001382391.1(CSPP1):c.200-5del
NM_001382391.1(CSPP1):c.200-5dup rs775661180
NM_001382391.1(CSPP1):c.2128+25_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+34_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+35_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+36del rs11296619
NM_001382391.1(CSPP1):c.2392-8_2392-4del rs528357182
NM_001382391.1(CSPP1):c.2539-4del rs754861164
NM_001382391.1(CSPP1):c.3330+17del
NM_001382391.1(CSPP1):c.385-16del
NM_001382391.1(CSPP1):c.385-9dup
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001395333.1(MTCL1):c.828G>A (p.Ala276=)
NM_001447.3(FAT2):c.12060-13_12060-11dup rs66498388
NM_001510.4(GRID2):c.735+21G>C rs2271385
NM_002222.6(ITPR1):c.*1531G>T rs9817206
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002913.5(RFC1):c.132+2923=
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_004115.4(FGF14):c.*1387_*1390dup rs10626847
NM_004115.4(FGF14):c.*1618T>A rs15608
NM_004115.4(FGF14):c.*972dup rs34628929
NM_004115.4(FGF14):c.468C>T (p.Ile156=) rs558694053
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004977.3(KCNC3):c.2170+14C>T rs189018316
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup) rs193922928
NM_005861.4(STUB1):c.786+8del rs3216838
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
NM_006796.3(AFG3L2):c.*311C>T rs79884272
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.3(AFG3L2):c.753-55T>C rs7407640
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.309+36T>C rs12805133
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32] rs60726084
NM_014053.4(FLVCR1):c.*1880TAAA[7] rs141272551
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*3130_*3131insAATT rs10655434
NM_014053.4(FLVCR1):c.*3482C>G rs12142813
NM_014053.4(FLVCR1):c.1413+82TTG[6] rs41300975
NM_014053.4(FLVCR1):c.1594-13_1594-10dup rs41301015
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
NM_015046.7(SETX):c.1576A>G (p.Met526Val) rs762013471
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
NM_015046.7(SETX):c.2267A>T (p.Glu756Val) rs202036078
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
NM_015046.7(SETX):c.2415C>T (p.Val805=)
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys) rs544815791
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
NM_015046.7(SETX):c.2988A>G (p.Arg996=) rs1358681495
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly) rs768510428
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser) rs545072717
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala) rs141996565
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn) rs149558692
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn) rs746807833
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu) rs776238150
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg) rs150918808
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
NM_015046.7(SETX):c.5275-14del rs761232500
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro) rs761031238
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
NM_015046.7(SETX):c.6209-19dup
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
NM_015046.7(SETX):c.6325-5dup
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
NM_015046.7(SETX):c.667C>G (p.Leu223Val) rs774068411
NM_015046.7(SETX):c.682A>G (p.Met228Val)
NM_015046.7(SETX):c.6842+11dup
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val) rs1402767850
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe) rs144121978
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
NM_015046.7(SETX):c.7810G>A (p.Val2604Met) rs757554863
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
NM_015046.7(SETX):c.896G>A (p.Arg299His)
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=) rs12128526
NM_015215.4(CAMTA1):c.234+62447C>T
NM_015215.4(CAMTA1):c.2780-8G>A
NM_015215.4(CAMTA1):c.3655C>G (p.Pro1219Ala)
NM_015215.4(CAMTA1):c.927G>A (p.Ser309=)
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.107+9del rs2151651994
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.525C>G (p.Ala175=)
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.544C>G (p.Leu182Val)
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232
NM_016464.5(TMEM138):c.129-11dup
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_018294.6(CWF19L1):c.1568G>A (p.Arg523His)
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*608del rs397897279
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.758-14dup rs1156468685
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.1256+32del rs3215919
NM_020247.5(COQ8A):c.1257-56G>T rs1574185
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.940-52C>G rs2297413
NM_022464.5(SIL1):c.-11+21922C>T
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
NM_022464.5(SIL1):c.353+19G>A
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_024411.5(PDYN):c.*1394C>A rs112661575
NM_024411.5(PDYN):c.*771T>C rs910079
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906
NM_033064.5(ATCAY):c.*1540C>A rs140917952
NM_033064.5(ATCAY):c.*193del rs796133913
NM_033064.5(ATCAY):c.*2497C>T rs143923838
NM_033064.5(ATCAY):c.545-65T>C rs3810373
NM_033071.3(SYNE1):c.21832-2dup rs35128811
NM_144992.5(VWA3B):c.2843+36dup rs113487988
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152617.4(RNF168):c.378+26del rs62798260
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_173500.4(TTBK2):c.2030C>G (p.Thr677Arg)
NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_182961.4(SYNE1):c.*666_*667del rs71660056
NM_182961.4(SYNE1):c.11254-31T>G rs6932325
NM_182961.4(SYNE1):c.11581-15dup rs5880967
NM_182961.4(SYNE1):c.11581-16_11581-15dup rs5880967
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) rs386707192
NM_182961.4(SYNE1):c.1351-15del
NM_182961.4(SYNE1):c.16237-3del rs752661566
NM_182961.4(SYNE1):c.16237-3dup
NM_182961.4(SYNE1):c.1632+11del rs763013262
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.16896+20del rs545568394
NM_182961.4(SYNE1):c.16896+9dup rs761957607
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=) rs201090220
NM_182961.4(SYNE1):c.18573+16G>A rs368633364
NM_182961.4(SYNE1):c.19894-17T>A rs542545053
NM_182961.4(SYNE1):c.20863-3dup rs755011653
NM_182961.4(SYNE1):c.21523-8del
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.225+14dup
NM_182961.4(SYNE1):c.2250+8del
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.26095-17dup
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.310-506C>A
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.3670-14dup rs111322292
NM_182961.4(SYNE1):c.4150-5dup rs776033844
NM_182961.4(SYNE1):c.779-11dup rs769649801
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_198994.3(TGM6):c.-36T>C rs371018532
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val) rs552530897
NM_198994.3(TGM6):c.1967+59AG[2] rs60388755
NR_002717.2(ATXN8OS):n.1103CTG[15_40]
Single allele

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