NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His)
|
rs6872614
|
0.99676
|
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_001130823.3(DNMT1):c.1782A>G (p.Thr594=)
|
rs721186
|
0.99062
|
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_198994.3(TGM6):c.1968-10C>T
|
rs6036467
|
0.98682
|
NM_001127222.2(CACNA1A):c.6526+137A>G
|
rs10413221
|
0.98446
|
NM_001127222.2(CACNA1A):c.4950+96A>C
|
rs16039
|
0.97758
|
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)
|
rs6442905
|
0.96699
|
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_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)
|
rs941920
|
0.90936
|
NM_001447.3(FAT2):c.1527C>T (p.Pro509=)
|
rs1465690
|
0.90395
|
NM_006946.4(SPTBN2):c.657-47G>A
|
rs615536
|
0.89277
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
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_001127222.2(CACNA1A):c.1199-31A>G
|
rs16008
|
0.81362
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
NM_001127222.2(CACNA1A):c.5941-205T>C
|
rs2419233
|
0.76943
|
NM_006946.4(SPTBN2):c.2816+23A>G
|
rs532439
|
0.72382
|
NM_001447.3(FAT2):c.11898T>C (p.His3966=)
|
rs2304028
|
0.72373
|
NM_001447.3(FAT2):c.11043T>C (p.Asp3681=)
|
rs3822699
|
0.71549
|
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_015215.4(CAMTA1):c.4690-44A>G
|
rs10779689
|
0.68851
|
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)
|
rs7613447
|
0.68442
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
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_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_001278064.2(GRM1):c.3168T>G (p.Gly1056=)
|
rs6923864
|
0.64620
|
NM_001127222.2(CACNA1A):c.1198+48G>A
|
rs2306348
|
0.64420
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
NM_015215.4(CAMTA1):c.3658+104T>A
|
rs1417986
|
0.62279
|
NM_198994.3(TGM6):c.850+12G>A
|
rs2076404
|
0.61481
|
NM_001372574.1(ATXN2):c.-91C>T
|
rs695872
|
0.61029
|
NM_001372574.1(ATXN2):c.-162C>G
|
rs695871
|
0.60874
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
NM_001127222.2(CACNA1A):c.4867-71A>C
|
rs16035
|
0.59301
|
NM_018896.5(CACNA1G):c.1141-29A>G
|
rs198550
|
0.58075
|
NM_173500.4(TTBK2):c.-250G>C
|
rs12437637
|
0.57925
|
NM_018896.5(CACNA1G):c.1925-56A>G
|
rs198551
|
0.57767
|
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_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)
|
rs1970912
|
0.56314
|
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_001127222.2(CACNA1A):c.4089+71T>C
|
rs16031
|
0.53636
|
NM_001447.3(FAT2):c.9213T>A (p.Thr3071=)
|
rs1432643
|
0.53410
|
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=)
|
rs2228611
|
0.50821
|
NM_001130823.3(DNMT1):c.1832+14A>G
|
rs2114724
|
0.50605
|
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)
|
rs2942
|
0.49950
|
NM_024411.4(PDYN):c.-381A>G
|
rs1997794
|
0.49716
|
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_001447.3(FAT2):c.3375C>T (p.Ile1125=)
|
rs2304054
|
0.48264
|
NM_018896.5(CACNA1G):c.1141-71C>T
|
rs16949166
|
0.47704
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser)
|
rs3734055
|
0.46145
|
NM_001127222.2(CACNA1A):c.293+53G>A
|
rs16003
|
0.45781
|
NM_001127222.2(CACNA1A):c.2280-68C>A
|
rs12985136
|
0.45430
|
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_018896.5(CACNA1G):c.489-56T>G
|
rs12946808
|
0.42604
|
NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=)
|
rs12449998
|
0.42004
|
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_001020658.2(PUM1):c.2337T>C (p.Asn779=)
|
rs2275741
|
0.39017
|
NM_002739.5(PRKCG):c.686+14G>T
|
rs3745405
|
0.36258
|
NM_024411.5(PDYN):c.*1030C>T
|
rs2235749
|
0.36165
|
NM_002739.5(PRKCG):c.567T>C (p.Asn189=)
|
rs3745406
|
0.35855
|
NM_001130823.3(DNMT1):c.2721-45C>T
|
rs2288349
|
0.35412
|
NM_024411.5(PDYN):c.*743T>C
|
rs910080
|
0.35005
|
NM_001020658.2(PUM1):c.364-44A>G
|
rs4949331
|
0.31144
|
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30736
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749
|
0.29982
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903
|
0.29622
|
NM_004115.4(FGF14):c.*1612G>T
|
rs1046197
|
0.28765
|
NM_006796.3(AFG3L2):c.*28G>C
|
rs1129115
|
0.28281
|
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
|
rs2306877
|
0.26698
|
NM_198994.3(TGM6):c.1476G>A (p.Lys492=)
|
rs2295077
|
0.26375
|
NM_001020658.2(PUM1):c.3243-46_3243-45del
|
rs56387244
|
0.24759
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_001127222.2(CACNA1A):c.4756-97G>A
|
rs8103699
|
0.24285
|
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)
|
rs45437097
|
0.16963
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
NM_001378969.1(KCND3):c.1269+15C>A
|
rs3738298
|
0.16477
|
NM_024411.5(PDYN):c.600T>C (p.His200=)
|
rs6045819
|
0.16142
|
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)
|
rs506028
|
0.15920
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)
|
rs3812153
|
0.15428
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_006796.3(AFG3L2):c.-96G>C
|
rs12327346
|
0.14255
|
NM_198994.3(TGM6):c.789G>A (p.Lys263=)
|
rs6114033
|
0.13293
|
NM_001378452.1(ITPR1):c.1151+5C>G
|
rs2306868
|
0.13045
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_024411.5(PDYN):c.*656T>C
|
rs10485703
|
0.12279
|
NM_018896.5(CACNA1G):c.6309C>T (p.Leu2103=)
|
rs2301835
|
0.10241
|
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys)
|
rs41278952
|
0.09746
|
NM_173500.4(TTBK2):c.-8G>A
|
rs16957250
|
0.08720
|
NM_001378969.1(KCND3):c.264C>T (p.Pro88=)
|
rs17221819
|
0.08351
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
NM_198994.3(TGM6):c.1093+5G>A
|
rs6137891
|
0.07885
|
NM_002739.5(PRKCG):c.*428C>G
|
rs57483118
|
0.06034
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505
|
0.05906
|
NM_001378452.1(ITPR1):c.*777C>T
|
rs41315884
|
0.05676
|
NM_001378452.1(ITPR1):c.*847G>A
|
rs41304181
|
0.05655
|
NM_001378452.1(ITPR1):c.1412+11C>T
|
rs7632000
|
0.04752
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901
|
0.04745
|
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_002739.5(PRKCG):c.*596C>T
|
rs60891969
|
0.04062
|
NM_001378452.1(ITPR1):c.1412+13G>A
|
rs11920643
|
0.04035
|
NM_198994.3(TGM6):c.477C>T (p.Ser159=)
|
rs16984872
|
0.03978
|
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996
|
0.03685
|
NM_002739.5(PRKCG):c.285C>T (p.Asp95=)
|
rs17854523
|
0.03329
|
NM_002739.5(PRKCG):c.207C>T (p.Cys69=)
|
rs307955
|
0.03300
|
NM_001378452.1(ITPR1):c.-81A>G
|
rs13319720
|
0.03249
|
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=)
|
rs2242244
|
0.03204
|
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_173500.4(TTBK2):c.3251C>T (p.Thr1084Met)
|
rs34348991
|
0.02971
|
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu)
|
rs73894929
|
0.02857
|
NM_001378452.1(ITPR1):c.*1156A>C
|
rs73099961
|
0.02738
|
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)
|
rs150512553
|
0.02576
|
NM_001378452.1(ITPR1):c.*643A>T
|
rs41305987
|
0.02460
|
NM_001378452.1(ITPR1):c.*47G>C
|
rs74998763
|
0.02401
|
NM_001378452.1(ITPR1):c.*48T>G
|
rs77764633
|
0.02400
|
NM_006796.3(AFG3L2):c.1026+8G>A
|
rs8091858
|
0.02347
|
NM_024411.5(PDYN):c.*369A>G
|
rs73894108
|
0.02261
|
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)
|
rs35079513
|
0.02248
|
NM_004115.4(FGF14):c.*471A>C
|
rs75498912
|
0.02130
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
NM_024411.5(PDYN):c.*556C>T
|
rs73571349
|
0.02074
|
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=)
|
rs34491089
|
0.02052
|
NM_024411.5(PDYN):c.*138A>G
|
rs111525766
|
0.01924
|
NM_006796.3(AFG3L2):c.*2G>A
|
rs113981080
|
0.01903
|
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_004115.4(FGF14):c.*1063G>A
|
rs58555898
|
0.01834
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=)
|
rs111744086
|
0.01476
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
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_198994.3(TGM6):c.989+11C>T
|
rs6048684
|
0.01409
|
NM_004115.4(FGF14):c.481T>C (p.Leu161=)
|
rs77082831
|
0.01311
|
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=)
|
rs73098087
|
0.01305
|
NM_152296.5(ATP1A3):c.*106T>C
|
rs180885057
|
0.01288
|
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_173500.4(TTBK2):c.3669C>T (p.His1223=)
|
rs74398902
|
0.01170
|
NM_006946.4(SPTBN2):c.885+5T>C
|
rs114331192
|
0.01156
|
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)
|
rs61741506
|
0.01135
|
NM_001378969.1(KCND3):c.1519-4G>T
|
rs72548732
|
0.01109
|
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)
|
rs35789999
|
0.01046
|
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_004115.4(FGF14):c.*31G>A
|
rs149661933
|
0.01007
|
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)
|
rs56307230
|
0.01001
|
NM_024411.5(PDYN):c.*1029A>G
|
rs115095625
|
0.00982
|
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_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=)
|
rs34117933
|
0.00956
|
NM_173500.4(TTBK2):c.*1162T>A
|
rs79592696
|
0.00943
|
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)
|
rs145220403
|
0.00924
|
NM_006796.3(AFG3L2):c.*109A>C
|
rs114203162
|
0.00915
|
NM_001378452.1(ITPR1):c.3327+12C>T
|
rs116022052
|
0.00894
|
NM_002739.5(PRKCG):c.*199C>T
|
rs114091656
|
0.00888
|
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)
|
rs2301357
|
0.00867
|
NM_001378452.1(ITPR1):c.1251+10G>A
|
rs75936691
|
0.00811
|
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)
|
rs35272495
|
0.00802
|
NM_001378452.1(ITPR1):c.3327+4G>A
|
rs2306878
|
0.00785
|
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_024411.5(PDYN):c.*356T>C
|
rs114429882
|
0.00768
|
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_198994.3(TGM6):c.1103G>A (p.Arg368Gln)
|
rs75122556
|
0.00731
|
NM_198994.3(TGM6):c.42G>A (p.Ser14=)
|
rs149394698
|
0.00719
|
NM_004115.4(FGF14):c.*744C>A
|
rs79379700
|
0.00714
|
NM_006946.4(SPTBN2):c.4985+11C>T
|
rs11227572
|
0.00707
|
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr)
|
rs79724097
|
0.00706
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_024411.5(PDYN):c.*1443G>A
|
rs148395893
|
0.00643
|
NM_198994.3(TGM6):c.1656C>T (p.Ala552=)
|
rs75601099
|
0.00634
|
NM_006796.3(AFG3L2):c.-71C>T
|
rs571340907
|
0.00605
|
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_004115.4(FGF14):c.*554G>A
|
rs141793298
|
0.00557
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090
|
0.00548
|
NM_006946.4(SPTBN2):c.6723-14C>T
|
rs186232313
|
0.00525
|
NM_001378452.1(ITPR1):c.6510+7T>C
|
rs115430385
|
0.00496
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_006796.3(AFG3L2):c.-137G>C
|
rs191000529
|
0.00494
|
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu)
|
rs76000738
|
0.00477
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
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_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00447
|
NM_173500.4(TTBK2):c.980+8C>A
|
rs143836514
|
0.00447
|
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436
|
0.00446
|
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858
|
0.00446
|
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_198994.3(TGM6):c.1235G>A (p.Arg412His)
|
rs142679146
|
0.00410
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
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_198994.3(TGM6):c.1580T>A (p.Val527Glu)
|
rs61729226
|
0.00370
|
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly)
|
rs141930579
|
0.00348
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=)
|
rs139528715
|
0.00306
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
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_152296.5(ATP1A3):c.2819+20G>A
|
rs148592392
|
0.00279
|
NM_006946.4(SPTBN2):c.5950-8G>A
|
rs201759431
|
0.00277
|
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)
|
rs146515654
|
0.00267
|
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_198994.3(TGM6):c.*87C>A
|
rs45544131
|
0.00240
|
NM_152296.5(ATP1A3):c.2921+11C>T
|
rs190570469
|
0.00230
|
NM_001378452.1(ITPR1):c.*979A>T
|
rs147782346
|
0.00226
|
NM_152296.5(ATP1A3):c.1944-20G>T
|
rs200665663
|
0.00216
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_006946.4(SPTBN2):c.6896+11G>A
|
rs141969559
|
0.00203
|
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)
|
rs28565126
|
0.00201
|
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_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_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_152296.5(ATP1A3):c.2976C>T (p.Asp992=)
|
rs146199765
|
0.00177
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)
|
rs200405805
|
0.00172
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
NM_198994.3(TGM6):c.2052G>A (p.Val684=)
|
rs149369357
|
0.00165
|
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_152296.5(ATP1A3):c.1943+12A>T
|
rs201197776
|
0.00146
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_173500.4(TTBK2):c.*581A>T
|
rs575564250
|
0.00142
|
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_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_198994.3(TGM6):c.1216G>A (p.Glu406Lys)
|
rs144338465
|
0.00135
|
NM_006946.4(SPTBN2):c.1654-13G>A
|
rs200980512
|
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_001378969.1(KCND3):c.117T>C (p.Asp39=)
|
rs12720446
|
0.00128
|
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_173500.4(TTBK2):c.2941C>G (p.Leu981Val)
|
rs180791005
|
0.00124
|
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=)
|
rs367643585
|
0.00120
|
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_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
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_002739.5(PRKCG):c.642G>A (p.Thr214=)
|
rs77550964
|
0.00099
|
NM_006946.4(SPTBN2):c.4985+12G>A
|
rs199692345
|
0.00098
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
NM_173500.3(TTBK2):c.-413G>C
|
rs528520159
|
0.00096
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00094
|
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_152296.5(ATP1A3):c.1260C>T (p.Arg420=)
|
rs113909283
|
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_001378452.1(ITPR1):c.3765C>T (p.Cys1255=)
|
rs140402012
|
0.00077
|
NM_152296.5(ATP1A3):c.*315G>A
|
rs571857150
|
0.00073
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
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_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
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_001378452.1(ITPR1):c.*121G>C
|
rs146903558
|
0.00055
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_002222.6(ITPR1):c.*1533G>A
|
rs377290142
|
0.00044
|
NM_004115.4(FGF14):c.*176C>G
|
rs191705440
|
0.00039
|
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)
|
rs148428571
|
0.00038
|
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_198994.3(TGM6):c.555C>T (p.Asp185=)
|
rs144101264
|
0.00036
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
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_173500.4(TTBK2):c.2171G>A (p.Gly724Glu)
|
rs201524659
|
0.00027
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_198994.3(TGM6):c.1171G>A (p.Val391Met)
|
rs116904482
|
0.00026
|
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_001378969.1(KCND3):c.870G>T (p.Arg290=)
|
rs200894990
|
0.00021
|
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_198994.3(TGM6):c.940G>A (p.Val314Met)
|
rs202184911
|
0.00021
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
NM_001378969.1(KCND3):c.789C>T (p.Asp263=)
|
rs373264592
|
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_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_006796.3(AFG3L2):c.498C>T (p.Ser166=)
|
rs141538541
|
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_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_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_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
|
rs369555293
|
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_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_001378452.1(ITPR1):c.997-6C>T
|
rs139421901
|
0.00008
|
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_152296.5(ATP1A3):c.1086C>T (p.Thr362=)
|
rs186453162
|
0.00007
|
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=)
|
rs116979196
|
0.00007
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
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_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)
|
rs775411387
|
0.00005
|
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)
|
rs190703406
|
0.00005
|
NM_152296.5(ATP1A3):c.994-4C>G
|
rs373698149
|
0.00005
|
NM_198994.3(TGM6):c.883G>A (p.Val295Met)
|
rs200341133
|
0.00005
|
NM_001378452.1(ITPR1):c.6808+8C>G
|
rs2270749
|
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_198994.3(TGM6):c.992A>G (p.Asn331Ser)
|
rs138323389
|
0.00004
|
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)
|
rs1045410944
|
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_001378452.1(ITPR1):c.-244G>A
|
rs577585180
|
0.00002
|
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)
|
rs563347395
|
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_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_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_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_000333.4:c.89ACG[7_17]
|
rs193922929
|
|
NM_001005920.4(JMJD8):c.*506del
|
rs3216838
|
|
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
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_001278064.2(GRM1):c.3213T>G (p.Pro1071=)
|
rs1047006
|
|
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_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_001447.3(FAT2):c.12060-13_12060-11dup
|
rs66498388
|
|
NM_002222.6(ITPR1):c.*1531G>T
|
rs9817206
|
|
NM_003194.5(TBP):c.216_218del (p.Gln95del)
|
rs71815788
|
|
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_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_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_015215.4(CAMTA1):c.1350G>A (p.Ser450=)
|
rs12128526
|
|
NM_015215.4(CAMTA1):c.234+62447C>T
|
|
|
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)
|
|
|
NM_024411.5(PDYN):c.*1394C>A
|
rs112661575
|
|
NM_024411.5(PDYN):c.*771T>C
|
rs910079
|
|
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_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_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
|
|
|