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_001372574.1(ATXN2):c.42G>A (p.Gln14=)
|
rs4098854
|
0.75204
|
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_001372574.1(ATXN2):c.3043-12G>A
|
rs2073950
|
0.19844
|
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_001372574.1(ATXN2):c.57A>G (p.Gln19=)
|
rs76696028
|
0.12201
|
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_003194.5(TBP):c.216A>G (p.Gln72=)
|
rs55736770
|
0.08146
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
NM_198994.3(TGM6):c.1093+5G>A
|
rs6137891
|
0.07885
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_173500.4(TTBK2):c.*482C>G
|
rs16957120
|
0.06388
|
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=)
|
rs639938
|
0.06187
|
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_006946.4(SPTBN2):c.5340C>T (p.Asn1780=)
|
rs623022
|
0.04821
|
NM_001378452.1(ITPR1):c.1412+11C>T
|
rs7632000
|
0.04752
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901
|
0.04745
|
NM_004115.4(FGF14):c.*1664_*1666del
|
rs141424596
|
0.04549
|
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_173500.4(TTBK2):c.*583A>T
|
rs116853892
|
0.02725
|
NM_173500.4(TTBK2):c.*678A>G
|
rs78237254
|
0.02688
|
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_018896.5(CACNA1G):c.1479C>T (p.His493=)
|
rs9897406
|
0.02109
|
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_001378452.1(ITPR1):c.*1170C>A
|
rs202059633
|
0.02047
|
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_001127222.2(CACNA1A):c.3989+16A>G
|
rs149764550
|
0.01798
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His)
|
rs35532855
|
0.01604
|
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_001278064.2(GRM1):c.2651G>A (p.Gly884Glu)
|
rs362936
|
0.01411
|
NM_198994.3(TGM6):c.989+11C>T
|
rs6048684
|
0.01409
|
NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=)
|
rs75823828
|
0.01398
|
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_001940.4(ATN1):c.1467G>A (p.Gln489=)
|
rs782253884
|
0.01283
|
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_006946.4(SPTBN2):c.234G>A (p.Val78=)
|
rs78309877
|
0.01155
|
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=)
|
rs34275473
|
0.01154
|
NM_001378452.1(ITPR1):c.*1185C>A
|
rs867347513
|
0.01135
|
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)
|
rs61741506
|
0.01135
|
NM_005861.4(STUB1):c.642T>C (p.Leu214=)
|
rs79687861
|
0.01123
|
NM_001378969.1(KCND3):c.1519-4G>T
|
rs72548732
|
0.01109
|
NM_006946.4(SPTBN2):c.*364C>T
|
rs11828658
|
0.01074
|
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_001378452.1(ITPR1):c.1554+17G>A
|
rs80123990
|
0.01028
|
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_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)
|
rs114142372
|
0.00949
|
NM_173500.4(TTBK2):c.*1162T>A
|
rs79592696
|
0.00943
|
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)
|
rs148919174
|
0.00936
|
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_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)
|
rs114788199
|
0.00819
|
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=)
|
rs73710962
|
0.00818
|
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_021814.5(ELOVL5):c.246+3891C>T
|
rs150583340
|
0.00704
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)
|
rs146753539
|
0.00646
|
NM_024411.5(PDYN):c.*1443G>A
|
rs148395893
|
0.00643
|
NM_198994.3(TGM6):c.1656C>T (p.Ala552=)
|
rs75601099
|
0.00634
|
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)
|
rs201222692
|
0.00627
|
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=)
|
rs6674962
|
0.00613
|
NM_006796.3(AFG3L2):c.-71C>T
|
rs571340907
|
0.00605
|
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser)
|
rs7145583
|
0.00602
|
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_004993.6(ATXN3):c.916G>C (p.Gly306Arg)
|
rs12895357
|
0.00572
|
NM_173500.4(TTBK2):c.*966C>T
|
rs145576687
|
0.00571
|
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)
|
rs11851173
|
0.00565
|
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)
|
rs138819654
|
0.00560
|
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_007289.4(MME):c.2133G>A (p.Val711=)
|
rs61760409
|
0.00518
|
NM_001378452.1(ITPR1):c.6510+7T>C
|
rs115430385
|
0.00496
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
NM_006796.3(AFG3L2):c.-137G>C
|
rs191000529
|
0.00494
|
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)
|
rs114241603
|
0.00477
|
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu)
|
rs76000738
|
0.00477
|
NM_198994.3(TGM6):c.-2A>G
|
rs80329336
|
0.00475
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_004977.3(KCNC3):c.984G>A (p.Pro328=)
|
rs114192110
|
0.00461
|
NM_007289.4(MME):c.1255A>C (p.Met419Leu)
|
rs34931605
|
0.00459
|
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)
|
rs61745465
|
0.00451
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
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_018896.5(CACNA1G):c.1589G>A (p.Arg530His)
|
rs7222276
|
0.00445
|
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys)
|
rs115062978
|
0.00441
|
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_015215.4(CAMTA1):c.986A>G (p.Lys329Arg)
|
rs151133441
|
0.00433
|
NM_001447.3(FAT2):c.829G>C (p.Val277Leu)
|
rs145834206
|
0.00429
|
NM_173500.4(TTBK2):c.*1311G>A
|
rs148272721
|
0.00429
|
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_001127222.2(CACNA1A):c.5067+20G>A
|
rs184517632
|
0.00390
|
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_001130823.3(DNMT1):c.2463C>T (p.Leu821=)
|
rs61750051
|
0.00377
|
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu)
|
rs61729226
|
0.00370
|
NM_004115.4(FGF14):c.*1259C>T
|
rs535930764
|
0.00357
|
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=)
|
rs74909073
|
0.00352
|
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly)
|
rs141930579
|
0.00348
|
NM_002739.5(PRKCG):c.*427T>C
|
rs886054615
|
0.00334
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650
|
0.00332
|
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)
|
rs549394447
|
0.00331
|
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)
|
rs146028766
|
0.00326
|
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_001278064.2(GRM1):c.2043T>C (p.Arg681=)
|
rs143682838
|
0.00289
|
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)
|
rs35946460
|
0.00289
|
NM_001278064.2(GRM1):c.2496T>C (p.Thr832=)
|
rs142675468
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)
|
rs61737660
|
0.00287
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_006946.4(SPTBN2):c.*546T>C
|
rs539068045
|
0.00285
|
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala)
|
rs56017612
|
0.00284
|
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val)
|
rs41267702
|
0.00279
|
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_015215.4(CAMTA1):c.3066+20C>T
|
rs147462930
|
0.00264
|
NM_004977.3(KCNC3):c.2093G>A (p.Arg698His)
|
rs144957827
|
0.00255
|
NM_004115.4(FGF14):c.*1118G>A
|
rs147404825
|
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_198994.3(TGM6):c.*87C>A
|
rs45544131
|
0.00240
|
NM_152296.5(ATP1A3):c.2921+11C>T
|
rs190570469
|
0.00230
|
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)
|
rs150070697
|
0.00229
|
NM_001378452.1(ITPR1):c.*979A>T
|
rs147782346
|
0.00226
|
NM_013236.4(ATXN10):c.321G>A (p.Thr107=)
|
rs61733598
|
0.00223
|
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.1221C>T (p.His407=)
|
rs143596433
|
0.00212
|
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)
|
rs777868371
|
0.00211
|
NM_006946.4(SPTBN2):c.6896+11G>A
|
rs141969559
|
0.00203
|
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)
|
rs28565126
|
0.00201
|
NM_004115.4(FGF14):c.*414T>C
|
rs557390242
|
0.00200
|
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_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp)
|
rs145764886
|
0.00188
|
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_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)
|
rs200979954
|
0.00175
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=)
|
rs144939155
|
0.00173
|
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)
|
rs200405805
|
0.00172
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=)
|
rs35463342
|
0.00168
|
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=)
|
rs35370566
|
0.00168
|
NM_198994.3(TGM6):c.2052G>A (p.Val684=)
|
rs149369357
|
0.00165
|
NM_024411.5(PDYN):c.*1238A>T
|
rs187098720
|
0.00163
|
NM_173500.4(TTBK2):c.*1463G>A
|
rs571544379
|
0.00160
|
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)
|
rs142295786
|
0.00150
|
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_001372574.1(ATXN2):c.-266C>T
|
rs536609944
|
0.00138
|
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_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu)
|
rs144242373
|
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_006946.4(SPTBN2):c.1807+13C>T
|
rs151122248
|
0.00132
|
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)
|
rs573961089
|
0.00130
|
NM_024411.5(PDYN):c.*1071G>A
|
rs752953257
|
0.00129
|
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_006946.4(SPTBN2):c.*71G>A
|
rs572522164
|
0.00125
|
NM_006796.3(AFG3L2):c.114+12C>T
|
rs758470020
|
0.00124
|
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_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
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_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)
|
rs137974312
|
0.00106
|
NM_004977.3(KCNC3):c.315G>C (p.Thr105=)
|
rs368049323
|
0.00104
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_001378452.1(ITPR1):c.*1198C>T
|
rs367636150
|
0.00102
|
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)
|
rs3749383
|
0.00102
|
NM_006796.3(AFG3L2):c.1319-7C>T
|
rs182327153
|
0.00102
|
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)
|
rs199968321
|
0.00102
|
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)
|
rs143083152
|
0.00100
|
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_173500.4(TTBK2):c.*1153G>A
|
rs781080005
|
0.00093
|
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)
|
rs200705345
|
0.00090
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
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_006796.3(AFG3L2):c.-92T>C
|
rs574201536
|
0.00087
|
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs)
|
rs1290125655
|
0.00082
|
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)
|
rs200650758
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_024411.4(PDYN):c.-382C>T
|
rs188187030
|
0.00081
|
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_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)
|
rs201940261
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
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_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
NM_006796.3(AFG3L2):c.*379T>A
|
rs150224434
|
0.00073
|
NM_152296.5(ATP1A3):c.*315G>A
|
rs571857150
|
0.00073
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met)
|
rs201363601
|
0.00071
|
NM_005245.4(FAT1):c.8991G>A (p.Thr2997=)
|
rs138496810
|
0.00071
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_173500.4(TTBK2):c.-321C>A
|
rs760435890
|
0.00070
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
NM_004115.4(FGF14):c.*974G>A
|
rs886049934
|
0.00067
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys)
|
rs149056587
|
0.00067
|
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
|
rs150999369
|
0.00066
|
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=)
|
rs61757106
|
0.00066
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)
|
rs41273880
|
0.00066
|
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)
|
rs141421692
|
0.00065
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862
|
0.00064
|
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)
|
rs138218277
|
0.00064
|
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_001378452.1(ITPR1):c.6912G>A (p.Pro2304=)
|
rs200426774
|
0.00063
|
NM_004115.4(FGF14):c.*1220_*1223dup
|
rs546246953
|
0.00062
|
NM_001130823.3(DNMT1):c.4656+9G>A
|
rs367724672
|
0.00061
|
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)
|
rs150607879
|
0.00061
|
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
0.00061
|
NM_173500.4(TTBK2):c.*580T>A
|
rs544516599
|
0.00061
|
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)
|
rs199744696
|
0.00060
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027
|
0.00059
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
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_173500.4(TTBK2):c.*744G>A
|
rs769283772
|
0.00058
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00057
|
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)
|
rs201030692
|
0.00057
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857
|
0.00056
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)
|
rs141683210
|
0.00056
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
NM_198994.3(TGM6):c.1011G>A (p.Glu337=)
|
rs142832802
|
0.00056
|
NM_001378452.1(ITPR1):c.*121G>C
|
rs146903558
|
0.00055
|
NM_006946.4(SPTBN2):c.-22-10C>A
|
rs200435327
|
0.00054
|
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)
|
rs200769097
|
0.00053
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_004115.4(FGF14):c.*553C>T
|
rs150580343
|
0.00053
|
NM_198994.3(TGM6):c.1429_1430insTCTCT (p.Gly477fs)
|
rs766605124
|
0.00052
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
NM_024411.5(PDYN):c.*103C>T
|
rs555671052
|
0.00051
|
NM_024411.5(PDYN):c.*231C>G
|
rs565210312
|
0.00049
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)
|
rs112944532
|
0.00048
|
NM_006796.3(AFG3L2):c.*221A>G
|
rs886053613
|
0.00048
|
NM_002739.5(PRKCG):c.*622C>G
|
rs1032868211
|
0.00046
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_198994.3(TGM6):c.1452C>T (p.Asp484=)
|
rs142748417
|
0.00046
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756
|
0.00045
|
NM_001378452.1(ITPR1):c.*942G>T
|
rs41308218
|
0.00044
|
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)
|
rs201519806
|
0.00044
|
NM_002222.6(ITPR1):c.*1533G>A
|
rs377290142
|
0.00044
|
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr)
|
rs200203979
|
0.00043
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
NM_004115.4(FGF14):c.*176C>G
|
rs191705440
|
0.00039
|
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)
|
rs148428571
|
0.00038
|
NM_173500.4(TTBK2):c.-279C>A
|
rs866690514
|
0.00038
|
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=)
|
rs201662235
|
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_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile)
|
rs200646875
|
0.00037
|
NM_198994.3(TGM6):c.622G>A (p.Val208Met)
|
rs61743614
|
0.00037
|
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=)
|
rs147262533
|
0.00036
|
NM_002222.6(ITPR1):c.*1347G>T
|
rs547675218
|
0.00036
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
0.00036
|
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)
|
rs144201778
|
0.00036
|
NM_198994.3(TGM6):c.555C>T (p.Asp185=)
|
rs144101264
|
0.00036
|
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)
|
rs199584370
|
0.00035
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531
|
0.00035
|
NM_002739.5(PRKCG):c.*550C>T
|
rs778703745
|
0.00035
|
NM_173500.4(TTBK2):c.-130G>C
|
rs886051164
|
0.00035
|
NM_001127222.2(CACNA1A):c.1199-17G>C
|
rs190836274
|
0.00034
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=)
|
rs41290672
|
0.00034
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00034
|
NM_006946.4(SPTBN2):c.*121A>G
|
rs554283435
|
0.00034
|
NM_173500.4(TTBK2):c.*185A>G
|
rs376104201
|
0.00034
|
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser)
|
rs200674917
|
0.00034
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_004115.4(FGF14):c.123C>T (p.Asn41=)
|
rs372705140
|
0.00033
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)
|
rs373973399
|
0.00032
|
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=)
|
rs370939479
|
0.00031
|
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=)
|
rs373127487
|
0.00031
|
NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys)
|
rs145466001
|
0.00031
|
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)
|
rs148065361
|
0.00031
|
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)
|
rs148018494
|
0.00031
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
NM_001378452.1(ITPR1):c.*279A>G
|
rs886058645
|
0.00029
|
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=)
|
rs368405302
|
0.00029
|
NM_004115.4(FGF14):c.384T>C (p.Asn128=)
|
rs41281646
|
0.00029
|
NM_006946.4(SPTBN2):c.-56C>T
|
rs527588843
|
0.00029
|
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)
|
rs200124857
|
0.00029
|
NM_198994.3(TGM6):c.277A>G (p.Met93Val)
|
rs146529216
|
0.00029
|
NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser)
|
rs778523009
|
0.00028
|
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)
|
rs764407421
|
0.00028
|
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=)
|
rs201311531
|
0.00027
|
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)
|
rs147087785
|
0.00027
|
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)
|
rs143904999
|
0.00027
|
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu)
|
rs201524659
|
0.00027
|
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)
|
rs201694328
|
0.00027
|
NM_001376.5(DYNC1H1):c.-13C>G
|
rs537857759
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_198994.3(TGM6):c.1171G>A (p.Val391Met)
|
rs116904482
|
0.00026
|
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)
|
rs367814655
|
0.00025
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_002739.5(PRKCG):c.1281+9G>C
|
rs370400523
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)
|
rs200125366
|
0.00024
|
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu)
|
rs183670042
|
0.00024
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_004977.3(KCNC3):c.1884G>A (p.Ala628=)
|
rs552133569
|
0.00023
|
NM_152296.5(ATP1A3):c.1193-4C>G
|
rs200111818
|
0.00023
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
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_024411.5(PDYN):c.691C>A (p.Arg231=)
|
rs201204862
|
0.00022
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810
|
0.00021
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135
|
0.00021
|
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=)
|
rs200487406
|
0.00021
|
NM_001378969.1(KCND3):c.870G>T (p.Arg290=)
|
rs200894990
|
0.00021
|
NM_002222.6(ITPR1):c.*1611G>A
|
rs565800630
|
0.00021
|
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp)
|
rs116236420
|
0.00021
|
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)
|
rs376219874
|
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_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001378969.1(KCND3):c.789C>T (p.Asp263=)
|
rs373264592
|
0.00019
|
NM_006796.3(AFG3L2):c.*484A>G
|
rs565352114
|
0.00019
|
NM_173500.4(TTBK2):c.*967G>A
|
rs569220743
|
0.00019
|
NM_173500.4(TTBK2):c.-51C>T
|
rs374364415
|
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_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=)
|
rs375234629
|
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_001378969.1(KCND3):c.1106+10C>T
|
rs377267051
|
0.00016
|
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)
|
rs35027371
|
0.00016
|
NM_006796.2(AFG3L2):c.-179C>T
|
rs576218520
|
0.00016
|
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=)
|
rs141538541
|
0.00016
|
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=)
|
rs201752194
|
0.00016
|
NM_013236.4(ATXN10):c.404G>T (p.Gly135Val)
|
rs199766375
|
0.00016
|
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln)
|
rs138288107
|
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_173500.4(TTBK2):c.3543G>A (p.Ser1181=)
|
rs199635198
|
0.00016
|
NM_198994.3(TGM6):c.-42C>T
|
rs376489998
|
0.00016
|
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
|
rs775444653
|
0.00015
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
NM_006796.3(AFG3L2):c.*326G>A
|
rs180917336
|
0.00015
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479
|
0.00014
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=)
|
rs375533002
|
0.00014
|
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)
|
rs201263269
|
0.00014
|
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)
|
rs369681244
|
0.00014
|
NM_001378969.1(KCND3):c.696G>A (p.Ala232=)
|
rs370453605
|
0.00014
|
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)
|
rs143513754
|
0.00014
|
NM_006796.2(AFG3L2):c.-206C>A
|
rs564906201
|
0.00014
|
NM_006796.2(AFG3L2):c.-207T>A
|
rs533486310
|
0.00014
|
NM_015215.4(CAMTA1):c.806-11G>A
|
rs200922493
|
0.00014
|
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys)
|
rs760308715
|
0.00014
|
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp)
|
rs148854519
|
0.00014
|
NM_198994.3(TGM6):c.632G>A (p.Arg211His)
|
rs192045738
|
0.00014
|
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)
|
rs763414737
|
0.00013
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367
|
0.00013
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519
|
0.00013
|
NM_001378452.1(ITPR1):c.6180+11T>A
|
rs772860677
|
0.00013
|
NM_002739.5(PRKCG):c.822-14C>T
|
rs367639661
|
0.00013
|
NM_004115.4(FGF14):c.*1772C>A
|
rs761322568
|
0.00013
|
NM_024411.5(PDYN):c.*346G>A
|
rs780894307
|
0.00013
|
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)
|
rs146606627
|
0.00013
|
NM_173500.4(TTBK2):c.*536T>C
|
rs902865683
|
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_001378969.1(KCND3):c.1865C>T (p.Ala622Val)
|
rs199663609
|
0.00012
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00012
|
NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys)
|
rs375995525
|
0.00012
|
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)
|
rs587782989
|
0.00011
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_001378452.1(ITPR1):c.1886+14G>A
|
rs370584403
|
0.00011
|
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=)
|
rs375801584
|
0.00011
|
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys)
|
rs377248442
|
0.00011
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
NM_001378452.1(ITPR1):c.7737C>T (p.Leu2579=)
|
rs148734757
|
0.00011
|
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)
|
rs144120746
|
0.00011
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
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_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)
|
rs36104367
|
0.00011
|
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033
|
0.00010
|
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn)
|
rs142562681
|
0.00010
|
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=)
|
rs139909192
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_002739.5(PRKCG):c.*84C>A
|
rs995740073
|
0.00010
|
NM_002739.5(PRKCG):c.234C>T (p.His78=)
|
rs143456958
|
0.00010
|
NM_004115.4(FGF14):c.*993C>T
|
rs752896423
|
0.00010
|
NM_006796.3(AFG3L2):c.-139T>C
|
rs542643055
|
0.00010
|
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg)
|
rs190532690
|
0.00010
|
NM_024411.5(PDYN):c.-162A>G
|
rs886056537
|
0.00010
|
NM_024411.5(PDYN):c.483C>G (p.Leu161=)
|
rs773513924
|
0.00010
|
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
|
rs369555293
|
0.00010
|
NM_173500.4(TTBK2):c.-68+15C>G
|
rs886051163
|
0.00010
|
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)
|
rs150566697
|
0.00010
|
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg)
|
rs375595045
|
0.00010
|
NM_198994.3(TGM6):c.951C>T (p.Phe317=)
|
rs201333931
|
0.00010
|
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly)
|
rs387907098
|
0.00010
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830
|
0.00009
|
NM_001378452.1(ITPR1):c.*580T>G
|
rs1266500433
|
0.00009
|
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)
|
rs150934088
|
0.00009
|
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=)
|
rs760817061
|
0.00009
|
NM_001378969.1(KCND3):c.1269+13C>T
|
rs72548726
|
0.00009
|
NM_001378969.1(KCND3):c.1766+3G>A
|
rs748524463
|
0.00009
|
NM_001378969.1(KCND3):c.207G>A (p.Thr69=)
|
rs751347311
|
0.00009
|
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)
|
rs201966169
|
0.00009
|
NM_006946.4(SPTBN2):c.*61G>A
|
rs566929715
|
0.00009
|
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=)
|
rs150837212
|
0.00009
|
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=)
|
rs141552965
|
0.00009
|
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
NM_006946.4(SPTBN2):c.6940-11T>C
|
rs551276248
|
0.00009
|
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro)
|
rs527612343
|
0.00009
|
NM_024411.4(PDYN):c.-241G>C
|
rs574928545
|
0.00009
|
NM_024411.5(PDYN):c.*33A>C
|
rs556095353
|
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_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys)
|
rs144236612
|
0.00009
|
NM_198994.3(TGM6):c.990-6T>C
|
rs370391681
|
0.00009
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00008
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706
|
0.00008
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
NM_001378452.1(ITPR1):c.997-6C>T
|
rs139421901
|
0.00008
|
NM_002739.5(PRKCG):c.940-3C>T
|
rs377593245
|
0.00008
|
NM_005245.4(FAT1):c.1940C>T (p.Ala647Val)
|
rs200988247
|
0.00008
|
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr)
|
rs759505522
|
0.00008
|
NM_006946.4(SPTBN2):c.5884C>T (p.Arg1962Cys)
|
rs200370228
|
0.00008
|
NM_006946.4(SPTBN2):c.5950-9C>T
|
rs554781314
|
0.00008
|
NM_007289.4(MME):c.1342C>T (p.Arg448Ter)
|
rs149905705
|
0.00008
|
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu)
|
rs747028553
|
0.00008
|
NM_024411.5(PDYN):c.*522C>T
|
rs886056532
|
0.00008
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln)
|
rs138498390
|
0.00008
|
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)
|
rs201347313
|
0.00008
|
NM_198994.3(TGM6):c.1170C>T (p.Phe390=)
|
rs765423180
|
0.00008
|
NM_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=)
|
rs377704053
|
0.00007
|
NM_001278064.2(GRM1):c.1165A>C (p.Asn389His)
|
rs769064791
|
0.00007
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001378452.1(ITPR1):c.*243G>A
|
rs963189027
|
0.00007
|
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser)
|
rs369108656
|
0.00007
|
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)
|
rs200212002
|
0.00007
|
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)
|
rs78437096
|
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_005245.4(FAT1):c.8041C>T (p.Pro2681Ser)
|
rs369221848
|
0.00007
|
NM_006796.2(AFG3L2):c.-151C>T
|
rs554944971
|
0.00007
|
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)
|
rs753324919
|
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_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile)
|
rs138238924
|
0.00007
|
NM_198994.3(TGM6):c.834C>T (p.Ala278=)
|
rs371740473
|
0.00007
|
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly)
|
rs548699524
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001130823.3(DNMT1):c.*211G>C
|
rs772999851
|
0.00006
|
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile)
|
rs776461147
|
0.00006
|
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met)
|
rs781301028
|
0.00006
|
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu)
|
rs758190156
|
0.00006
|
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr)
|
rs192397712
|
0.00006
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=)
|
rs373515668
|
0.00006
|
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr)
|
rs372881053
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)
|
rs774713377
|
0.00006
|
NM_001378969.1(KCND3):c.651G>A (p.Pro217=)
|
rs186974111
|
0.00006
|
NM_002739.5(PRKCG):c.*426C>T
|
rs1002891475
|
0.00006
|
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu)
|
rs551805527
|
0.00006
|
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=)
|
rs139181972
|
0.00006
|
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=)
|
rs371535973
|
0.00006
|
NM_018012.4(KIF26B):c.2605G>A (p.Gly869Arg)
|
rs199690740
|
0.00006
|
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys)
|
rs779077930
|
0.00006
|
NM_024411.4(PDYN):c.-358G>A
|
rs745377265
|
0.00006
|
NM_024411.5(PDYN):c.*1457C>G
|
rs529380614
|
0.00006
|
NM_024411.5(PDYN):c.*225T>C
|
rs569014510
|
0.00006
|
NM_024411.5(PDYN):c.*636G>C
|
rs993395808
|
0.00006
|
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys)
|
rs567558964
|
0.00006
|
NM_024411.5(PDYN):c.616C>T (p.Arg206Cys)
|
rs575606358
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_152296.5(ATP1A3):c.-64A>G
|
rs373531937
|
0.00006
|
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)
|
rs782325595
|
0.00006
|
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)
|
rs141412861
|
0.00006
|
NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala)
|
rs202162088
|
0.00006
|
NM_173500.4(TTBK2):c.*33A>C
|
rs149561490
|
0.00006
|
NM_173500.4(TTBK2):c.*847T>C
|
rs567667407
|
0.00006
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)
|
rs606231453
|
0.00005
|
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)
|
rs775411387
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=)
|
rs35343277
|
0.00005
|
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=)
|
rs545754582
|
0.00005
|
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)
|
rs190703406
|
0.00005
|
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)
|
rs186194682
|
0.00005
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
NM_002739.5(PRKCG):c.*184C>T
|
rs764816557
|
0.00005
|
NM_002739.5(PRKCG):c.441C>T (p.Pro147=)
|
rs764546467
|
0.00005
|
NM_004115.4(FGF14):c.261C>T (p.Pro87=)
|
rs757210660
|
0.00005
|
NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr)
|
rs1365532889
|
0.00005
|
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)
|
rs767775507
|
0.00005
|
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His)
|
rs200016211
|
0.00005
|
NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp)
|
rs148878156
|
0.00005
|
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr)
|
rs199675740
|
0.00005
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)
|
rs755920468
|
0.00005
|
NM_024411.5(PDYN):c.538C>T (p.Arg180Cys)
|
rs370283678
|
0.00005
|
NM_152296.5(ATP1A3):c.994-4C>G
|
rs373698149
|
0.00005
|
NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=)
|
rs201861233
|
0.00005
|
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)
|
rs200437800
|
0.00005
|
NM_198994.3(TGM6):c.1528G>C (p.Asp510His)
|
rs201964784
|
0.00005
|
NM_198994.3(TGM6):c.181+10C>T
|
rs780460166
|
0.00005
|
NM_198994.3(TGM6):c.883G>A (p.Val295Met)
|
rs200341133
|
0.00005
|
NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser)
|
rs368545314
|
0.00004
|
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)
|
rs759782636
|
0.00004
|
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)
|
rs765523382
|
0.00004
|
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr)
|
rs370786558
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
NM_001377405.1(ATXN7):c.2120G>A (p.Arg707His)
|
rs368917711
|
0.00004
|
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=)
|
rs745351516
|
0.00004
|
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)
|
rs768179678
|
0.00004
|
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=)
|
rs371661663
|
0.00004
|
NM_001378452.1(ITPR1):c.6808+8C>G
|
rs2270749
|
0.00004
|
NM_001378452.1(ITPR1):c.709-6T>C
|
rs374932152
|
0.00004
|
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=)
|
rs533201615
|
0.00004
|
NM_001378969.1(KCND3):c.1269+18G>A
|
rs372005674
|
0.00004
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
NM_001378969.1(KCND3):c.519C>T (p.Phe173=)
|
rs144600384
|
0.00004
|
NM_001378969.1(KCND3):c.618G>A (p.Pro206=)
|
rs200611538
|
0.00004
|
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln)
|
rs137870998
|
0.00004
|
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)
|
rs749266717
|
0.00004
|
NM_004115.4(FGF14):c.*1741T>C
|
rs529644559
|
0.00004
|
NM_004115.4(FGF14):c.477C>T (p.Ser159=)
|
rs776794756
|
0.00004
|
NM_004977.3(KCNC3):c.751G>A (p.Gly251Ser)
|
rs953647148
|
0.00004
|
NM_005245.4(FAT1):c.6808G>A (p.Asp2270Asn)
|
rs200538725
|
0.00004
|
NM_006796.3(AFG3L2):c.*373G>A
|
rs886053612
|
0.00004
|
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr)
|
rs758811358
|
0.00004
|
NM_006946.4(SPTBN2):c.*228dup
|
rs886048544
|
0.00004
|
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=)
|
rs374787500
|
0.00004
|
NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys)
|
rs372241839
|
0.00004
|
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=)
|
rs141779130
|
0.00004
|
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His)
|
rs145750214
|
0.00004
|
NM_006946.4(SPTBN2):c.6035-12C>T
|
rs2276137
|
0.00004
|
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr)
|
rs773129687
|
0.00004
|
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp)
|
rs564046722
|
0.00004
|
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val)
|
rs147636995
|
0.00004
|
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser)
|
rs373331254
|
0.00004
|
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu)
|
rs1422686570
|
0.00004
|
NM_024411.5(PDYN):c.*261C>T
|
rs886056534
|
0.00004
|
NM_024411.5(PDYN):c.*320C>T
|
rs1022899056
|
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_173500.4(TTBK2):c.2831G>A (p.Arg944Gln)
|
rs201348630
|
0.00004
|
NM_198994.3(TGM6):c.1093+10A>G
|
rs375737445
|
0.00004
|
NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro)
|
rs984559925
|
0.00004
|
NM_198994.3(TGM6):c.331C>T (p.Arg111Cys)
|
rs372250159
|
0.00004
|
NM_198994.3(TGM6):c.543+7A>G
|
rs755777005
|
0.00004
|
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser)
|
rs182249285
|
0.00004
|
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)
|
rs201338900
|
0.00004
|
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)
|
rs202245813
|
0.00004
|
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser)
|
rs138323389
|
0.00004
|
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)
|
rs606231454
|
0.00003
|
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)
|
rs1045410944
|
0.00003
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)
|
rs1233829101
|
0.00003
|
NM_001130823.3(DNMT1):c.4773+11C>T
|
rs777602633
|
0.00003
|
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=)
|
rs755151805
|
0.00003
|
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala)
|
rs766504703
|
0.00003
|
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu)
|
rs1432380664
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001378452.1(ITPR1):c.4435C>T (p.His1479Tyr)
|
rs943946433
|
0.00003
|
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=)
|
rs886058616
|
0.00003
|
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn)
|
rs773864227
|
0.00003
|
NM_001378452.1(ITPR1):c.625-14A>T
|
rs368114873
|
0.00003
|
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)
|
rs1247179970
|
0.00003
|
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)
|
rs199637120
|
0.00003
|
NM_001378969.1(KCND3):c.1524C>T (p.His508=)
|
rs765916708
|
0.00003
|
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)
|
rs774711788
|
0.00003
|
NM_001378969.1(KCND3):c.339C>T (p.Ala113=)
|
rs371366472
|
0.00003
|
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr)
|
rs143933558
|
0.00003
|
NM_001378969.1(KCND3):c.693G>C (p.Thr231=)
|
rs749849320
|
0.00003
|
NM_002739.5(PRKCG):c.*481T>C
|
rs886054616
|
0.00003
|
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=)
|
rs556667568
|
0.00003
|
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu)
|
rs1360248213
|
0.00003
|
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)
|
rs770016586
|
0.00003
|
NM_004115.4(FGF14):c.*777C>A
|
rs886049936
|
0.00003
|
NM_005245.4(FAT1):c.544G>A (p.Gly182Arg)
|
rs1425607166
|
0.00003
|
NM_006796.3(AFG3L2):c.1426+9A>T
|
rs377339236
|
0.00003
|
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)
|
rs200514577
|
0.00003
|
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp)
|
rs768999765
|
0.00003
|
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)
|
rs772590586
|
0.00003
|
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=)
|
rs774265056
|
0.00003
|
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)
|
rs778388054
|
0.00003
|
NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp)
|
rs145964068
|
0.00003
|
NM_015215.4(CAMTA1):c.439-60758C>T
|
rs997317904
|
0.00003
|
NM_024411.4(PDYN):c.-286G>C
|
rs886056538
|
0.00003
|
NM_024411.5(PDYN):c.*1157T>G
|
rs745852761
|
0.00003
|
NM_024411.5(PDYN):c.*561C>T
|
rs886056531
|
0.00003
|
NM_024411.5(PDYN):c.*847T>C
|
rs371550256
|
0.00003
|
NM_024411.5(PDYN):c.-19-1G>C
|
rs769835663
|
0.00003
|
NM_152296.5(ATP1A3):c.2418+18C>T
|
rs369674143
|
0.00003
|
NM_173500.4(TTBK2):c.*598G>A
|
rs774535951
|
0.00003
|
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)
|
rs117382379
|
0.00003
|
NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys)
|
rs767399781
|
0.00003
|
NM_173500.4(TTBK2):c.2295G>T (p.Leu765=)
|
rs751381521
|
0.00003
|
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)
|
rs576737530
|
0.00003
|
NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn)
|
rs200469913
|
0.00003
|
NM_198994.3(TGM6):c.1089T>C (p.Ser363=)
|
rs762242728
|
0.00003
|
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu)
|
rs148696208
|
0.00003
|
NM_198994.3(TGM6):c.674T>G (p.Val225Gly)
|
rs1461093480
|
0.00003
|
NM_198994.3(TGM6):c.816C>T (p.Gly272=)
|
rs368599004
|
0.00003
|
NM_001020658.2(PUM1):c.131C>T (p.Ser44Leu)
|
rs528903842
|
0.00002
|
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)
|
rs606231455
|
0.00002
|
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser)
|
rs1383144531
|
0.00002
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met)
|
rs780098532
|
0.00002
|
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser)
|
rs767308840
|
0.00002
|
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg)
|
rs150331990
|
0.00002
|
NM_001130823.3(DNMT1):c.3394+4C>T
|
rs781376510
|
0.00002
|
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=)
|
rs1186008456
|
0.00002
|
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=)
|
rs747144567
|
0.00002
|
NM_001376.5(DYNC1H1):c.*108G>A
|
rs886050378
|
0.00002
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609
|
0.00002
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
rs201971718
|
0.00002
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694
|
0.00002
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00002
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
|
rs1412108587
|
0.00002
|
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
|
rs1422291997
|
0.00002
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296
|
0.00002
|
NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu)
|
rs376606208
|
0.00002
|
NM_001378452.1(ITPR1):c.-244G>A
|
rs577585180
|
0.00002
|
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=)
|
rs886058613
|
0.00002
|
NM_001378452.1(ITPR1):c.1714-12C>T
|
rs765853714
|
0.00002
|
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=)
|
rs563347395
|
0.00002
|
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=)
|
rs748274420
|
0.00002
|
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)
|
rs1467772045
|
0.00002
|
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala)
|
rs773251870
|
0.00002
|
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val)
|
rs773701050
|
0.00002
|
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)
|
rs749048534
|
0.00002
|
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=)
|
rs886058618
|
0.00002
|
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=)
|
rs765524918
|
0.00002
|
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=)
|
rs748401794
|
0.00002
|
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met)
|
rs767779223
|
0.00002
|
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val)
|
rs201934670
|
0.00002
|
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=)
|
rs148320813
|
0.00002
|
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=)
|
rs17215451
|
0.00002
|
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln)
|
rs764928165
|
0.00002
|
NM_001378969.1(KCND3):c.1519-5C>T
|
rs376408039
|
0.00002
|
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)
|
rs771385731
|
0.00002
|
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=)
|
rs181971539
|
0.00002
|
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)
|
rs760907112
|
0.00002
|
NM_001378969.1(KCND3):c.318G>A (p.Pro106=)
|
rs770807162
|
0.00002
|
NM_001378969.1(KCND3):c.321C>A (p.Arg107=)
|
rs746952612
|
0.00002
|
NM_001378969.1(KCND3):c.348C>T (p.Asp116=)
|
rs756600533
|
0.00002
|
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr)
|
rs149488365
|
0.00002
|
NM_001378969.1(KCND3):c.576C>T (p.Phe192=)
|
rs759120826
|
0.00002
|
NM_001378969.1(KCND3):c.879C>T (p.Arg293=)
|
rs147739517
|
0.00002
|
NM_001378969.1(KCND3):c.9C>T (p.Ala3=)
|
rs777097802
|
0.00002
|
NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr)
|
rs1443089616
|
0.00002
|
NM_002222.6(ITPR1):c.*1311G>A
|
rs772889585
|
0.00002
|
NM_002739.5(PRKCG):c.-233C>T
|
rs752173466
|
0.00002
|
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val)
|
rs751774653
|
0.00002
|
NM_002739.5(PRKCG):c.529+11G>T
|
rs886054612
|
0.00002
|
NM_004115.4(FGF14):c.*1296A>C
|
rs540292614
|
0.00002
|
NM_004115.4(FGF14):c.651G>A (p.Thr217=)
|
rs151325645
|
0.00002
|
NM_005861.4(STUB1):c.778dup (p.His260fs)
|
rs780883873
|
0.00002
|
NM_006796.3(AFG3L2):c.-56C>A
|
rs886053619
|
0.00002
|
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)
|
rs1373473541
|
0.00002
|
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=)
|
rs764447133
|
0.00002
|
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=)
|
rs540897209
|
0.00002
|
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His)
|
rs201852582
|
0.00002
|
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr)
|
rs765561071
|
0.00002
|
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His)
|
rs764884402
|
0.00002
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu)
|
rs376249009
|
0.00002
|
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His)
|
rs201138924
|
0.00002
|
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)
|
rs746195427
|
0.00002
|
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys)
|
rs200732212
|
0.00002
|
NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met)
|
rs555798090
|
0.00002
|
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln)
|
rs781240948
|
0.00002
|
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln)
|
rs1295882768
|
0.00002
|
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met)
|
rs1433017716
|
0.00002
|
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys)
|
rs767121010
|
0.00002
|
NM_024411.5(PDYN):c.*827A>G
|
rs886056530
|
0.00002
|
NM_024411.5(PDYN):c.456C>T (p.Asn152=)
|
rs148113209
|
0.00002
|
NM_024411.5(PDYN):c.724G>A (p.Glu242Lys)
|
rs1181111571
|
0.00002
|
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
|
rs1353417724
|
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.2819+12G>A
|
rs782653272
|
0.00002
|
NM_152296.5(ATP1A3):c.741G>C (p.Val247=)
|
rs767234141
|
0.00002
|
NM_173500.4(TTBK2):c.-282A>C
|
rs949605219
|
0.00002
|
NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly)
|
rs202004988
|
0.00002
|
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp)
|
rs373828657
|
0.00002
|
NM_198994.3(TGM6):c.*97T>A
|
rs1351166866
|
0.00002
|
NM_198994.3(TGM6):c.717G>A (p.Gln239=)
|
rs201506281
|
0.00002
|
NM_198994.3(TGM6):c.850+4C>T
|
rs765181893
|
0.00002
|
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)
|
rs771145682
|
0.00001
|
NM_001080414.4(CCDC88C):c.1888G>A (p.Ala630Thr)
|
rs773899627
|
0.00001
|
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys)
|
rs956104232
|
0.00001
|
NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr)
|
rs917595672
|
0.00001
|
NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys)
|
rs751049970
|
0.00001
|
NM_001114748.2(TMEM240):c.35T>C (p.Ile12Thr)
|
rs1223225659
|
0.00001
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
NM_001127222.2(CACNA1A):c.3149T>C (p.Ile1050Thr)
|
rs2057414053
|
0.00001
|
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)
|
rs755172189
|
0.00001
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)
|
rs1212952550
|
0.00001
|
NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His)
|
rs142339351
|
0.00001
|
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=)
|
rs750048459
|
0.00001
|
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val)
|
rs766051225
|
0.00001
|
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser)
|
rs768764350
|
0.00001
|
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln)
|
rs759143980
|
0.00001
|
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp)
|
rs1372902099
|
0.00001
|
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=)
|
rs775323670
|
0.00001
|
NM_001278064.2(GRM1):c.3236C>T (p.Pro1079Leu)
|
rs145216301
|
0.00001
|
NM_001278064.2(GRM1):c.3405C>G (p.Ser1135Arg)
|
rs1188689970
|
0.00001
|
NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp)
|
rs776275848
|
0.00001
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293
|
0.00001
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
rs1376784009
|
0.00001
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200
|
0.00001
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289
|
0.00001
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182
|
0.00001
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090
|
0.00001
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
rs549582489
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
NM_001378452.1(ITPR1):c.*1061T>G
|
rs886058652
|
0.00001
|
NM_001378452.1(ITPR1):c.*740T>C
|
rs886058650
|
0.00001
|
NM_001378452.1(ITPR1):c.*816C>T
|
rs775011992
|
0.00001
|
NM_001378452.1(ITPR1):c.-158C>G
|
rs886058523
|
0.00001
|
NM_001378452.1(ITPR1):c.-342C>T
|
rs886058522
|
0.00001
|
NM_001378452.1(ITPR1):c.-63C>T
|
rs889404498
|
0.00001
|
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=)
|
rs760762106
|
0.00001
|
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=)
|
rs778521012
|
0.00001
|
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)
|
rs2093873570
|
0.00001
|
NM_001378452.1(ITPR1):c.2006+13C>A
|
rs1181863539
|
0.00001
|
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=)
|
rs779948053
|
0.00001
|
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu)
|
rs1443276640
|
0.00001
|
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile)
|
rs543514234
|
0.00001
|
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=)
|
rs764301997
|
0.00001
|
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile)
|
rs370220353
|
0.00001
|
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)
|
rs1574832115
|
0.00001
|
NM_001378452.1(ITPR1):c.3162-9C>T
|
rs1159582623
|
0.00001
|
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser)
|
rs776099053
|
0.00001
|
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)
|
rs747698039
|
0.00001
|
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=)
|
rs766131451
|
0.00001
|
NM_001378452.1(ITPR1):c.3327+10G>T
|
rs757492529
|
0.00001
|
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=)
|
rs764767201
|
0.00001
|
NM_001378452.1(ITPR1):c.3564+9C>T
|
rs564799796
|
0.00001
|
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=)
|
rs540908870
|
0.00001
|
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=)
|
rs886058578
|
0.00001
|
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=)
|
rs2094755597
|
0.00001
|
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=)
|
rs1396361560
|
0.00001
|
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg)
|
rs886058619
|
0.00001
|
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=)
|
rs754434409
|
0.00001
|
NM_001378452.1(ITPR1):c.7701+3A>G
|
rs533303665
|
0.00001
|
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=)
|
rs886058580
|
0.00001
|
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=)
|
rs185723423
|
0.00001
|
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His)
|
rs760274429
|
0.00001
|
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp)
|
rs1172444288
|
0.00001
|
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=)
|
rs762936059
|
0.00001
|
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=)
|
rs765815341
|
0.00001
|
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=)
|
rs773858454
|
0.00001
|
NM_001378969.1(KCND3):c.1372-6T>C
|
rs765435324
|
0.00001
|
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val)
|
rs1245864814
|
0.00001
|
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg)
|
rs1571626155
|
0.00001
|
NM_001378969.1(KCND3):c.1462-13T>C
|
rs766769240
|
0.00001
|
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly)
|
rs1216457569
|
0.00001
|
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)
|
rs762528364
|
0.00001
|
NM_001378969.1(KCND3):c.1518+18T>C
|
rs377356478
|
0.00001
|
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys)
|
rs760468985
|
0.00001
|
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile)
|
rs969494348
|
0.00001
|
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)
|
rs778141653
|
0.00001
|
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His)
|
rs761867267
|
0.00001
|
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val)
|
rs948125814
|
0.00001
|
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His)
|
rs758318696
|
0.00001
|
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala)
|
rs752495973
|
0.00001
|
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser)
|
rs1417756814
|
0.00001
|
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)
|
rs1411627342
|
0.00001
|
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)
|
rs372362132
|
0.00001
|
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys)
|
rs777172603
|
0.00001
|
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser)
|
rs766562520
|
0.00001
|
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=)
|
rs777559132
|
0.00001
|
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)
|
rs766584545
|
0.00001
|
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=)
|
rs144184587
|
0.00001
|
NM_001378969.1(KCND3):c.609G>A (p.Glu203=)
|
rs1171946587
|
0.00001
|
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser)
|
rs760097003
|
0.00001
|
NM_001378969.1(KCND3):c.624C>T (p.Gly208=)
|
rs772815178
|
0.00001
|
NM_001378969.1(KCND3):c.727C>T (p.Leu243=)
|
rs769885163
|
0.00001
|
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr)
|
rs373756710
|
0.00001
|
NM_001378969.1(KCND3):c.786C>T (p.Ile262=)
|
rs369172530
|
0.00001
|
NM_001378969.1(KCND3):c.837C>T (p.Asn279=)
|
rs761397595
|
0.00001
|
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp)
|
rs1307934269
|
0.00001
|
NM_001378969.1(KCND3):c.96C>T (p.Ala32=)
|
rs767230824
|
0.00001
|
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val)
|
rs760460512
|
0.00001
|
NM_001378969.1(KCND3):c.999C>T (p.Ile333=)
|
rs1250316713
|
0.00001
|
NM_001395333.1(MTCL1):c.1777C>T (p.Arg593Cys)
|
rs758581749
|
0.00001
|
NM_001429.4(EP300):c.214C>A (p.Gln72Lys)
|
rs539635560
|
0.00001
|
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)
|
rs770597316
|
0.00001
|
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln)
|
rs201335279
|
0.00001
|
NM_001447.3(FAT2):c.11978C>T (p.Ala3993Val)
|
rs748005307
|
0.00001
|
NM_001961.4(EEF2):c.2241G>A (p.Val747=)
|
rs772173797
|
0.00001
|
NM_002222.6(ITPR1):c.*1481delG
|
rs886058656
|
0.00001
|
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)
|
rs1466750124
|
0.00001
|
NM_002739.5(PRKCG):c.*360G>C
|
rs886054614
|
0.00001
|
NM_002739.5(PRKCG):c.*415G>C
|
rs2068821858
|
0.00001
|
NM_002739.5(PRKCG):c.*48G>A
|
rs775600229
|
0.00001
|
NM_002739.5(PRKCG):c.-169G>C
|
rs777064041
|
0.00001
|
NM_002739.5(PRKCG):c.1282-14G>A
|
rs1017029385
|
0.00001
|
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)
|
rs1303074743
|
0.00001
|
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys)
|
rs980400591
|
0.00001
|
NM_002739.5(PRKCG):c.1906-10T>C
|
rs575700585
|
0.00001
|
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=)
|
rs753906154
|
0.00001
|
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile)
|
rs751824637
|
0.00001
|
NM_002739.5(PRKCG):c.520C>G (p.His174Asp)
|
rs777612378
|
0.00001
|
NM_002739.5(PRKCG):c.637C>A (p.Arg213=)
|
rs750289253
|
0.00001
|
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys)
|
rs771732555
|
0.00001
|
NM_003194.5(TBP):c.410C>T (p.Pro137Leu)
|
rs142540266
|
0.00001
|
NM_004115.4(FGF14):c.*1071C>T
|
rs886049933
|
0.00001
|
NM_004115.4(FGF14):c.*1072G>A
|
rs886049932
|
0.00001
|
NM_004115.4(FGF14):c.*361C>T
|
rs1159330973
|
0.00001
|
NM_004115.4(FGF14):c.608-10C>T
|
rs574476283
|
0.00001
|
NM_004115.4(FGF14):c.620G>A (p.Arg207Gln)
|
rs760595879
|
0.00001
|
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)
|
rs757752994
|
0.00001
|
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)
|
rs2037067131
|
0.00001
|
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg)
|
rs1305901422
|
0.00001
|
NM_005861.4(STUB1):c.673C>T (p.Arg225Ter)
|
rs1395191127
|
0.00001
|
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)
|
rs748984540
|
0.00001
|
NM_006392.4(NOP56):c.909G>A (p.Ala303=)
|
rs1295942947
|
0.00001
|
NM_006796.3(AFG3L2):c.*585A>C
|
rs886053611
|
0.00001
|
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=)
|
rs747246135
|
0.00001
|
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His)
|
rs1263405472
|
0.00001
|
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)
|
rs551015841
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)
|
rs151344523
|
0.00001
|
NM_006796.3(AFG3L2):c.215-5A>C
|
rs371046479
|
0.00001
|
NM_006796.3(AFG3L2):c.2175+14G>A
|
rs758755215
|
0.00001
|
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp)
|
rs886053614
|
0.00001
|
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=)
|
rs1308467906
|
0.00001
|
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile)
|
rs915684170
|
0.00001
|
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
|
rs753491527
|
0.00001
|
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His)
|
rs372938259
|
0.00001
|
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=)
|
rs770555771
|
0.00001
|
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val)
|
rs773989387
|
0.00001
|
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)
|
rs145702618
|
0.00001
|
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=)
|
rs758091474
|
0.00001
|
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His)
|
rs769417045
|
0.00001
|
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=)
|
rs768932281
|
0.00001
|
NM_006946.4(SPTBN2):c.3867+3G>T
|
rs753473374
|
0.00001
|
NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=)
|
rs886048550
|
0.00001
|
NM_006946.4(SPTBN2):c.4279-8G>A
|
rs369614446
|
0.00001
|
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys)
|
rs368125962
|
0.00001
|
NM_006946.4(SPTBN2):c.4986-5T>G
|
rs1371679359
|
0.00001
|
NM_006946.4(SPTBN2):c.5248C>A (p.Arg1750Ser)
|
rs886048548
|
0.00001
|
NM_006946.4(SPTBN2):c.54G>A (p.Gln18=)
|
rs377573278
|
0.00001
|
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=)
|
rs749188722
|
0.00001
|
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys)
|
rs200529832
|
0.00001
|
NM_006946.4(SPTBN2):c.6169G>T (p.Ala2057Ser)
|
rs1940323398
|
0.00001
|
NM_006946.4(SPTBN2):c.6374+15G>A
|
rs777633339
|
0.00001
|
NM_006946.4(SPTBN2):c.6502-9C>T
|
rs545190212
|
0.00001
|
NM_006946.4(SPTBN2):c.657-7C>G
|
rs758925003
|
0.00001
|
NM_006946.4(SPTBN2):c.6723-11G>A
|
rs758435668
|
0.00001
|
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met)
|
rs369469000
|
0.00001
|
NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg)
|
rs201670045
|
0.00001
|
NM_006946.4(SPTBN2):c.6897-4A>G
|
rs1262014282
|
0.00001
|
NM_006946.4(SPTBN2):c.773-5T>C
|
rs1941832250
|
0.00001
|
NM_007289.4(MME):c.1511A>T (p.Glu504Val)
|
rs201239248
|
0.00001
|
NM_007289.4(MME):c.1706A>C (p.Gln569Pro)
|
rs1326179984
|
0.00001
|
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)
|
rs767928746
|
0.00001
|
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro)
|
rs537053537
|
0.00001
|
NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly)
|
rs1296770412
|
0.00001
|
NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr)
|
rs2095986041
|
0.00001
|
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg)
|
rs965685976
|
0.00001
|
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys)
|
rs774307423
|
0.00001
|
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys)
|
rs758739555
|
0.00001
|
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg)
|
rs1207224249
|
0.00001
|
NM_018896.5(CACNA1G):c.2979+1G>T
|
rs1270287011
|
0.00001
|
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)
|
rs368561457
|
0.00001
|
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp)
|
rs1444290546
|
0.00001
|
NM_020680.4(SCYL1):c.1230+1G>A
|
rs864309666
|
0.00001
|
NM_020680.4(SCYL1):c.1636C>T (p.Gln546Ter)
|
rs864309667
|
0.00001
|
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)
|
rs761391551
|
0.00001
|
NM_024411.5(PDYN):c.*1336G>C
|
rs1402086088
|
0.00001
|
NM_024411.5(PDYN):c.*1532C>T
|
rs886056528
|
0.00001
|
NM_024411.5(PDYN):c.*671T>C
|
rs1290356604
|
0.00001
|
NM_024411.5(PDYN):c.*872C>A
|
rs933617446
|
0.00001
|
NM_024411.5(PDYN):c.257C>T (p.Ser86Leu)
|
rs781363760
|
0.00001
|
NM_024411.5(PDYN):c.501C>T (p.Asp167=)
|
rs886056535
|
0.00001
|
NM_024411.5(PDYN):c.571G>T (p.Gly191Trp)
|
rs767807436
|
0.00001
|
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser)
|
rs267606940
|
0.00001
|
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp)
|
rs201486601
|
0.00001
|
NM_024411.5(PDYN):c.643C>T (p.Arg215Cys)
|
rs267606939
|
0.00001
|
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)
|
rs370511776
|
0.00001
|
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)
|
rs1238469762
|
0.00001
|
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)
|
rs781822752
|
0.00001
|
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)
|
rs782744167
|
0.00001
|
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)
|
rs781786336
|
0.00001
|
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)
|
rs373180830
|
0.00001
|
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)
|
rs782662538
|
0.00001
|
NM_173500.4(TTBK2):c.*1243C>T
|
rs1182692526
|
0.00001
|
NM_173500.4(TTBK2):c.-184G>C
|
rs1439973590
|
0.00001
|
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys)
|
rs759246710
|
0.00001
|
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)
|
rs758352842
|
0.00001
|
NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro)
|
rs756629999
|
0.00001
|
NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val)
|
rs749726502
|
0.00001
|
NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser)
|
rs201683789
|
0.00001
|
NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=)
|
rs769037057
|
0.00001
|
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)
|
rs777159553
|
0.00001
|
NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr)
|
rs367612243
|
0.00001
|
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)
|
rs750743855
|
0.00001
|
NM_198994.3(TGM6):c.1332G>A (p.Pro444=)
|
rs763791368
|
0.00001
|
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu)
|
rs199968743
|
0.00001
|
NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu)
|
rs776319756
|
0.00001
|
NM_198994.3(TGM6):c.1501G>A (p.Val501Met)
|
rs764377731
|
0.00001
|
NM_198994.3(TGM6):c.390C>T (p.Gly130=)
|
rs751704232
|
0.00001
|
NM_198994.3(TGM6):c.516A>G (p.Ile172Met)
|
rs779578465
|
0.00001
|
NM_198994.3(TGM6):c.787A>G (p.Lys263Glu)
|
rs886056552
|
0.00001
|
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln)
|
rs776511523
|
0.00001
|
GRCh37/hg19 13q33.1(chr13:102250764-102412039)x1
|
|
|
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
|
|
|
GRCh37/hg19 13q33.1(chr13:102535482-102815349)x3
|
|
|
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
|
|
|
NC_000001.10:g.(?_112524223)_(112525348_?)dup
|
|
|
NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
|
|
|
NC_000001.10:g.6882372_7422115dup
|
|
|
NC_000001.10:g.7119268_7200395del
|
|
|
NC_000001.9:g.6777038_6826186del
|
|
|
NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del
|
|
|
NG_008047.1:g.17267CAG[(54-68)]
|
|
|
NG_008165.1:g.12526CAR[46_?]
|
|
|
NG_008227.1:g.53130CAG[(38_130)]
|
|
|
NG_008317.3:g.245717TTC[250_?]
|
|
|
NG_021403.2:g.68486_68487insN[2500_3800]
|
|
|
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])
|
rs193922926
|
|
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[(90_93)] (p.Gln488[(90-93)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])
|
rs60216939
|
|
NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)
|
|
|
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr)
|
rs1017436032
|
|
NM_001020658.2(PUM1):c.1773del (p.Ser592fs)
|
rs1640658015
|
|
NM_001020658.2(PUM1):c.213dup (p.Ala72fs)
|
rs2124008285
|
|
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe)
|
rs1640045849
|
|
NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu)
|
rs779524509
|
|
NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met)
|
rs1640041056
|
|
NM_001020658.2(PUM1):c.2592-5T>G
|
|
|
NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter)
|
rs1639458746
|
|
NM_001020658.2(PUM1):c.3283G>A (p.Glu1095Lys)
|
rs1639226190
|
|
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp)
|
rs1557541619
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
NM_001020658.2(PUM1):c.364G>A (p.Val122Met)
|
rs1643312973
|
|
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr)
|
rs1644321851
|
|
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile)
|
rs1187853515
|
|
NM_001020658.2(PUM1):c.896C>A (p.Pro299His)
|
rs1641834551
|
|
NM_001020658.2(PUM1):c.926T>C (p.Val309Ala)
|
|
|
NM_001020658.2(PUM1):c.949A>C (p.Asn317His)
|
rs2124486243
|
|
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
|
|
|
NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg)
|
rs1891910013
|
|
NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)
|
|
|
NM_001080414.4(CCDC88C):c.3320ACA[1] (p.Asn1108del)
|
|
|
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg)
|
rs1407640264
|
|
NM_001080414.4(CCDC88C):c.3554A>C (p.Tyr1185Ser)
|
|
|
NM_001080414.4(CCDC88C):c.5440C>T (p.Arg1814Trp)
|
|
|
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu)
|
rs771028975
|
|
NM_001080414.4(CCDC88C):c.61-85T>C
|
rs1285844
|
|
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
|
|
|
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)
|
rs547323858
|
|
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)
|
rs1057518011
|
|
NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)
|
|
|
NM_001114748.2(TMEM240):c.265G>A (p.Asp89Asn)
|
|
|
NM_001114748.2(TMEM240):c.328G>A (p.Val110Ile)
|
|
|
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)
|
rs2100695149
|
|
NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)
|
|
|
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter)
|
rs606231452
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val)
|
rs1600353470
|
|
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro)
|
rs2145030753
|
|
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)
|
rs1568523843
|
|
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)
|
rs1427473572
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)
|
rs2057947681
|
|
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)
|
rs2145004155
|
|
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)
|
rs2145004096
|
|
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)
|
rs1064795856
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)
|
rs2144980726
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)
|
rs2144980363
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)
|
rs2144958410
|
|
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)
|
rs1233611505
|
|
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)
|
rs2144956632
|
|
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)
|
rs1555755909
|
|
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)
|
rs748418783
|
|
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)
|
rs1555755878
|
|
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)
|
rs2057721231
|
|
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del)
|
rs763302316
|
|
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs)
|
rs2144887631
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)
|
rs2144833336
|
|
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr)
|
rs1568473283
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp)
|
rs1275025158
|
|
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)
|
rs886041279
|
|
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)
|
rs757643322
|
|
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)
|
rs886037946
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)
|
rs2056444576
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)
|
rs1555738369
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)
|
rs2144649756
|
|
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)
|
rs2144647872
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu)
|
rs2144646945
|
|
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)
|
rs2144936093
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)
|
rs2144629622
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)
|
rs2144622461
|
|
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)
|
rs2055612253
|
|
NM_001127222.2(CACNA1A):c.5625+50CTT[4]
|
rs143245670
|
|
NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp)
|
rs2144595194
|
|
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)
|
rs1085307557
|
|
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
|
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.6189+74A>C
|
rs16048
|
|
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6303+94del
|
rs3217380
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
NM_001127222.2(CACNA1A):c.6526+124G>C
|
rs2304093
|
|
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)
|
rs2144523407
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]
|
|
|
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[14] (p.Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
|
|
|
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val)
|
rs2059190094
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)
|
rs2059069286
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)
|
rs2145245595
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
|
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
|
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
|
|
|
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)
|
rs1760808820
|
|
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_001129729.3(PLEKHG4):c.-16C>T
|
rs886041026
|
|
NM_001130698.2(TRPC3):c.1419del (p.Val474fs)
|
rs2149125943
|
|
NM_001130698.2(TRPC3):c.2216T>C (p.Leu739Pro)
|
|
|
NM_001130698.2(TRPC3):c.857C>G (p.Ser286Trp)
|
|
|
NM_001130698.2(TRPC3):c.949G>A (p.Glu317Lys)
|
rs2149142103
|
|
NM_001130823.3(DNMT1):c.1044-8del
|
rs59599980
|
|
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690
|
|
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val)
|
rs397509392
|
|
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)
|
rs397509393
|
|
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe)
|
rs397509391
|
|
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)
|
rs2038416963
|
|
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys)
|
rs2089651800
|
|
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp)
|
rs745780816
|
|
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val)
|
rs2089593597
|
|
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser)
|
rs146601335
|
|
NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln)
|
rs2145258691
|
|
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr)
|
rs1599341718
|
|
NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala)
|
rs1555687655
|
|
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp)
|
rs2145253354
|
|
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly)
|
rs1568249130
|
|
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu)
|
rs2145340495
|
|
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg)
|
rs1599376406
|
|
NM_001167740.2(SMYD3):c.814-5812_814-3813del
|
|
|
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=)
|
rs148926588
|
|
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=)
|
rs114187147
|
|
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)
|
rs1554308513
|
|
NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile)
|
rs1212150882
|
|
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)
|
rs1554317158
|
|
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)
|
rs1047006
|
|
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)
|
rs1554274719
|
|
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)
|
rs1022097029
|
|
NM_001278064.2(GRM1):c.851C>T (p.Ala284Val)
|
rs1448466753
|
|
NM_001321932.1(FGF14):c.4+1G>A
|
|
|
NM_001365792.1(DAB1):c.122G>A (p.Arg41Gln)
|
|
|
NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr)
|
|
|
NM_001365792.1(DAB1):c.718G>C (p.Val240Leu)
|
|
|
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
|
|
|
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)
|
rs867381855
|
|
NM_001372574.1(ATXN2):c.289-11del
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.289-11dup
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr)
|
rs762930876
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001376.4(DYNC1H1):c.-122C>T
|
rs566619022
|
|
NM_001376.5(DYNC1H1):c.*194C>G
|
rs566606862
|
|
NM_001376.5(DYNC1H1):c.*70T>C
|
rs1047475161
|
|
NM_001376.5(DYNC1H1):c.-90C>T
|
rs1256118131
|
|
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)
|
rs886050371
|
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=)
|
rs886050373
|
|
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=)
|
rs886050374
|
|
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
|
rs2048578052
|
|
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg)
|
rs886050375
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
rs2048621150
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
rs143574214
|
|
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr)
|
rs886050376
|
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
rs963837216
|
|
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
rs2048072049
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
rs2048126886
|
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
rs1595609824
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
|
rs2048192586
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723
|
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
rs2048317566
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
rs2048487270
|
|
NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro)
|
rs1216716369
|
|
NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser)
|
rs991657534
|
|
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del)
|
rs748138546
|
|
NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
rs193922929
|
|
NM_001378452.1(ITPR1):c.*1076TTCTT[1]
|
rs886058653
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1]
|
rs1553771554
|
|
NM_001378452.1(ITPR1):c.*1183_*1184dup
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1184del
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1266G>A
|
rs886058655
|
|
NM_001378452.1(ITPR1):c.*13A>T
|
rs886058644
|
|
NM_001378452.1(ITPR1):c.*312G>A
|
rs886058646
|
|
NM_001378452.1(ITPR1):c.*356TG[1]
|
rs113825412
|
|
NM_001378452.1(ITPR1):c.*472T>G
|
rs2051804981
|
|
NM_001378452.1(ITPR1):c.*539_*540dup
|
rs886058648
|
|
NM_001378452.1(ITPR1):c.*549G>T
|
rs781519977
|
|
NM_001378452.1(ITPR1):c.*592T>G
|
rs2051813316
|
|
NM_001378452.1(ITPR1):c.*668T>C
|
rs886058649
|
|
NM_001378452.1(ITPR1):c.*814_*817dup
|
rs148070806
|
|
NM_001378452.1(ITPR1):c.*879T>C
|
rs1428879075
|
|
NM_001378452.1(ITPR1):c.*970C>A
|
rs2051846001
|
|
NM_001378452.1(ITPR1):c.-103C>T
|
rs750565307
|
|
NM_001378452.1(ITPR1):c.-143C>A
|
rs886058524
|
|
NM_001378452.1(ITPR1):c.-2A>G
|
rs369723935
|
|
NM_001378452.1(ITPR1):c.-315C>T
|
rs572878578
|
|
NM_001378452.1(ITPR1):c.-341A>T
|
rs565843811
|
|
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys)
|
rs779003637
|
|
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)
|
rs2124927471
|
|
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.1127G>C (p.Arg376Pro)
|
rs1260045423
|
|
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln)
|
rs2093820776
|
|
NM_001378452.1(ITPR1):c.1252-10T>A
|
rs2125191741
|
|
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile)
|
rs2093848251
|
|
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn)
|
rs2093849179
|
|
NM_001378452.1(ITPR1):c.1412+6C>T
|
rs2093850197
|
|
NM_001378452.1(ITPR1):c.1413-15G>A
|
rs148675260
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)
|
rs2125193560
|
|
NM_001378452.1(ITPR1):c.1606C>T (p.Leu536Phe)
|
rs1553681680
|
|
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=)
|
rs886058612
|
|
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly)
|
rs2093921786
|
|
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)
|
rs1322796318
|
|
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)
|
rs397514536
|
|
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
|
|
|
NM_001378452.1(ITPR1):c.2204+14G>A
|
rs529693973
|
|
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys)
|
rs961418831
|
|
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=)
|
rs553559062
|
|
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val)
|
rs111670385
|
|
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser)
|
rs1559671950
|
|
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=)
|
rs886058614
|
|
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=)
|
rs541386070
|
|
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp)
|
rs2093283649
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
NM_001378452.1(ITPR1):c.3617A>G (p.Lys1206Arg)
|
|
|
NM_001378452.1(ITPR1):c.366+15C>T
|
rs145989158
|
|
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser)
|
rs1159285250
|
|
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=)
|
rs2094513887
|
|
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=)
|
rs555819278
|
|
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe)
|
rs762136714
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001378452.1(ITPR1):c.4407+44GT[18]
|
rs35795762
|
|
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser)
|
rs886058615
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)
|
rs2125272771
|
|
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His)
|
rs561526280
|
|
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=)
|
rs2082182114
|
|
NM_001378452.1(ITPR1):c.4992-7del
|
rs546612625
|
|
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=)
|
rs2041390618
|
|
NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp)
|
rs1553706329
|
|
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter)
|
rs886058579
|
|
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln)
|
rs2291864
|
|
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=)
|
rs774018521
|
|
NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)
|
rs1114167316
|
|
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=)
|
rs776891199
|
|
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile)
|
rs1002376493
|
|
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg)
|
rs2125373123
|
|
NM_001378452.1(ITPR1):c.5725+15G>A
|
rs2045841537
|
|
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=)
|
rs1157485528
|
|
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)
|
rs1360324926
|
|
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val)
|
rs2046693194
|
|
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn)
|
rs886058620
|
|
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
|
|
|
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)
|
|
|
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)
|
rs2125159664
|
|
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)
|
rs1553756062
|
|
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)
|
rs1553666546
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)
|
rs2125159710
|
|
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)
|
rs2125159718
|
|
NM_001378452.1(ITPR1):c.7562-11C>T
|
rs368532017
|
|
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)
|
rs2106492941
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
NM_001378452.1(ITPR1):c.7677T>C (p.Asp2559=)
|
rs886058626
|
|
NM_001378452.1(ITPR1):c.7766T>C (p.Val2589Ala)
|
rs2049205080
|
|
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)
|
rs869312685
|
|
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala)
|
rs869312685
|
|
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)
|
rs1553758021
|
|
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)
|
rs2106494596
|
|
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=)
|
rs775463557
|
|
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)
|
rs797044955
|
|
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)
|
rs797044955
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=)
|
rs2050964614
|
|
NM_001378452.1(ITPR1):c.8190+13_8190+14del
|
rs552585900
|
|
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile)
|
rs863224882
|
|
NM_001378452.1(ITPR1):c.951+35G>C
|
rs6442895
|
|
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)
|
rs1571939827
|
|
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile)
|
rs965641511
|
|
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=)
|
rs1216276887
|
|
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)
|
rs797045634
|
|
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu)
|
|
|
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)
|
rs369361457
|
|
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=)
|
|
|
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=)
|
|
|
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)
|
rs397515476
|
|
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=)
|
|
|
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=)
|
rs1467256846
|
|
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp)
|
rs867628133
|
|
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)
|
rs867628133
|
|
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=)
|
|
|
NM_001378969.1(KCND3):c.1106+11G>A
|
|
|
NM_001378969.1(KCND3):c.1106+11G>T
|
rs1437557964
|
|
NM_001378969.1(KCND3):c.1106+15G>A
|
|
|
NM_001378969.1(KCND3):c.1107-21_1107-20del
|
|
|
NM_001378969.1(KCND3):c.1107-47915C>T
|
rs1318670
|
|
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro)
|
rs1675021542
|
|
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)
|
rs1057521793
|
|
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser)
|
rs1571636508
|
|
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
|
|
|
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
|
rs1571636501
|
|
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=)
|
|
|
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
|
|
|
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)
|
rs1664632655
|
|
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)
|
rs1057519453
|
|
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=)
|
|
|
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=)
|
rs1571636426
|
|
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)
|
rs397515478
|
|
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=)
|
rs533201615
|
|
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)
|
rs786205867
|
|
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=)
|
|
|
NM_001378969.1(KCND3):c.1197C>T (p.Val399=)
|
|
|
NM_001378969.1(KCND3):c.1269+14G>A
|
rs369047161
|
|
NM_001378969.1(KCND3):c.1269+6C>T
|
rs1060502174
|
|
NM_001378969.1(KCND3):c.1270-20dup
|
|
|
NM_001378969.1(KCND3):c.1270-6T>C
|
rs1195309269
|
|
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)
|
rs777183510
|
|
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro)
|
|
|
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu)
|
rs771703569
|
|
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=)
|
|
|
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=)
|
|
|
NM_001378969.1(KCND3):c.1329C>T (p.His443=)
|
|
|
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys)
|
rs756087542
|
|
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp)
|
rs1571626928
|
|
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)
|
|
|
NM_001378969.1(KCND3):c.1351A>C (p.Asn451His)
|
|
|
NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser)
|
|
|
NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala)
|
|
|
NM_001378969.1(KCND3):c.1371+19T>G
|
|
|
NM_001378969.1(KCND3):c.1371+4G>C
|
|
|
NM_001378969.1(KCND3):c.1371+5G>T
|
rs1178012198
|
|
NM_001378969.1(KCND3):c.1372-14T>C
|
|
|
NM_001378969.1(KCND3):c.1372-17T>C
|
|
|
NM_001378969.1(KCND3):c.1372-4C>T
|
|
|
NM_001378969.1(KCND3):c.1372-6T>G
|
|
|
NM_001378969.1(KCND3):c.1372-6dup
|
rs769051410
|
|
NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser)
|
|
|
NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys)
|
|
|
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)
|
rs1571626257
|
|
NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile)
|
|
|
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=)
|
|
|
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val)
|
rs2101469294
|
|
NM_001378969.1(KCND3):c.1434C>T (p.His478=)
|
|
|
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn)
|
|
|
NM_001378969.1(KCND3):c.1461+7C>A
|
|
|
NM_001378969.1(KCND3):c.1461+9C>T
|
|
|
NM_001378969.1(KCND3):c.1462-10T>G
|
rs2101462550
|
|
NM_001378969.1(KCND3):c.1462-16G>T
|
|
|
NM_001378969.1(KCND3):c.1462-4G>A
|
|
|
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)
|
rs976664434
|
|
NM_001378969.1(KCND3):c.1518+12del
|
|
|
NM_001378969.1(KCND3):c.1518+17A>C
|
|
|
NM_001378969.1(KCND3):c.1518+4T>C
|
rs1553235925
|
|
NM_001378969.1(KCND3):c.1519-10C>T
|
rs1664168851
|
|
NM_001378969.1(KCND3):c.1519-17_1519-15del
|
|
|
NM_001378969.1(KCND3):c.1519-20_1519-18del
|
rs775978779
|
|
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala)
|
rs1664166577
|
|
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)
|
|
|
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr)
|
|
|
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)
|
|
|
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
|
|
|
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg)
|
rs1338355211
|
|
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)
|
|
|
NM_001378969.1(KCND3):c.159C>T (p.Thr53=)
|
|
|
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)
|
rs1447493103
|
|
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu)
|
rs1553235768
|
|
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)
|
|
|
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser)
|
rs2101456436
|
|
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)
|
|
|
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)
|
|
|
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
|
|
|
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)
|
|
|
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr)
|
rs1553235743
|
|
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)
|
|
|
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)
|
|
|
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)
|
|
|
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys)
|
rs1420542041
|
|
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)
|
|
|
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly)
|
rs2101456005
|
|
NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)
|
|
|
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)
|
rs778053688
|
|
NM_001378969.1(KCND3):c.1767-17A>C
|
|
|
NM_001378969.1(KCND3):c.1767-4C>G
|
|
|
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys)
|
rs903701604
|
|
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp)
|
rs1483036958
|
|
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)
|
|
|
NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr)
|
|
|
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
|
|
|
NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)
|
|
|
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)
|
|
|
NM_001378969.1(KCND3):c.186G>C (p.Pro62=)
|
|
|
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser)
|
rs2101452061
|
|
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys)
|
rs1435444967
|
|
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu)
|
rs1261735013
|
|
NM_001378969.1(KCND3):c.18G>A (p.Ala6=)
|
|
|
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)
|
|
|
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
|
|
|
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe)
|
rs754759010
|
|
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr)
|
rs1557929628
|
|
NM_001378969.1(KCND3):c.1950C>A (p.Val650=)
|
|
|
NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr)
|
|
|
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly)
|
rs754042199
|
|
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln)
|
rs1571941606
|
|
NM_001378969.1(KCND3):c.36C>T (p.Ala12=)
|
rs2102000445
|
|
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala)
|
rs1675001550
|
|
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp)
|
rs575658111
|
|
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly)
|
rs1217571134
|
|
NM_001378969.1(KCND3):c.447C>T (p.Asp149=)
|
rs1553187519
|
|
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn)
|
rs1488410733
|
|
NM_001378969.1(KCND3):c.478A>G (p.Met160Val)
|
rs901416743
|
|
NM_001378969.1(KCND3):c.486G>A (p.Ser162=)
|
|
|
NM_001378969.1(KCND3):c.492C>T (p.Ser164=)
|
rs1170371506
|
|
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu)
|
|
|
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)
|
|
|
NM_001378969.1(KCND3):c.522G>A (p.Glu174=)
|
rs2101997545
|
|
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala)
|
rs2101997398
|
|
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=)
|
|
|
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser)
|
|
|
NM_001378969.1(KCND3):c.600C>T (p.Asn200=)
|
rs1674984825
|
|
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)
|
rs2101997230
|
|
NM_001378969.1(KCND3):c.633G>A (p.Pro211=)
|
rs35131566
|
|
NM_001378969.1(KCND3):c.633G>T (p.Pro211=)
|
rs35131566
|
|
NM_001378969.1(KCND3):c.63G>C (p.Pro21=)
|
rs923682288
|
|
NM_001378969.1(KCND3):c.660G>A (p.Glu220=)
|
rs2101996879
|
|
NM_001378969.1(KCND3):c.663C>T (p.Arg221=)
|
|
|
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu)
|
|
|
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)
|
rs397515475
|
|
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val)
|
|
|
NM_001378969.1(KCND3):c.693G>A (p.Thr231=)
|
|
|
NM_001378969.1(KCND3):c.714C>A (p.Thr238=)
|
|
|
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu)
|
rs2101996463
|
|
NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser)
|
|
|
NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg)
|
rs2101995994
|
|
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr)
|
rs1675024873
|
|
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
|
|
|
NM_001378969.1(KCND3):c.84C>T (p.Pro28=)
|
|
|
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)
|
rs1674966041
|
|
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)
|
|
|
NM_001378969.1(KCND3):c.878G>A (p.Arg293His)
|
rs1674965278
|
|
NM_001378969.1(KCND3):c.87G>A (p.Leu29=)
|
|
|
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro)
|
rs2101995572
|
|
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe)
|
rs2101995530
|
|
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp)
|
rs2101995501
|
|
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser)
|
rs1403997481
|
|
NM_001378969.1(KCND3):c.930G>A (p.Leu310=)
|
rs577883061
|
|
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr)
|
rs1571939905
|
|
NM_001378969.1(KCND3):c.957C>T (p.Ser319=)
|
rs61733426
|
|
NM_001378969.1(KCND3):c.969T>C (p.Phe323=)
|
rs757012715
|
|
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)
|
rs2101995228
|
|
NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)
|
|
|
NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile)
|
|
|
NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)
|
|
|
NM_001447.3(FAT2):c.12060-13_12060-11dup
|
rs66498388
|
|
NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp)
|
|
|
NM_001447.3(FAT2):c.1521T>G (p.Ile507Met)
|
rs1758328376
|
|
NM_001447.3(FAT2):c.1653del (p.Leu552fs)
|
|
|
NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg)
|
|
|
NM_001447.3(FAT2):c.5237T>C (p.Val1746Ala)
|
rs765754012
|
|
NM_001447.3(FAT2):c.7376G>A (p.Gly2459Glu)
|
|
|
NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val)
|
rs1363769217
|
|
NM_001447.3(FAT2):c.9896C>T (p.Ser3299Phe)
|
rs2127588750
|
|
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)
|
rs60216939
|
|
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)
|
rs60216939
|
|
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
|
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
NM_001961.4(EEF2):c.1130C>T (p.Pro377Leu)
|
|
|
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile)
|
rs2145360047
|
|
NM_001961.4(EEF2):c.1480A>T (p.Met494Leu)
|
|
|
NM_001961.4(EEF2):c.1787C>A (p.Pro596His)
|
rs587777052
|
|
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)
|
rs945307250
|
|
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys)
|
rs2145355764
|
|
NM_001961.4(EEF2):c.442del (p.Ala148fs)
|
|
|
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
|
|
|
NM_001961.4(EEF2):c.884A>T (p.Asp295Val)
|
|
|
NM_001961.4(EEF2):c.949_950delinsAG (p.Glu317Arg)
|
rs2145362551
|
|
NM_002222.6(ITPR1):c.*1366C>A
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1366C>T
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1531G>A
|
rs9817206
|
|
NM_002222.6(ITPR1):c.*1531G>T
|
rs9817206
|
|
NM_002508.3(NID1):c.2129-2427_2405-658del
|
|
|
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)
|
|
|
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)
|
|
|
NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)
|
|
|
NM_002739.5(PRKCG):c.*39C>T
|
rs776490487
|
|
NM_002739.5(PRKCG):c.*59dup
|
rs144706041
|
|
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)
|
rs386134171
|
|
NM_002739.5(PRKCG):c.107A>G (p.His36Arg)
|
rs2122973105
|
|
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)
|
rs121918517
|
|
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr)
|
rs769292201
|
|
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)
|
rs386134158
|
|
NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala)
|
|
|
NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter)
|
rs955612922
|
|
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)
|
rs387906679
|
|
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)
|
rs797045900
|
|
NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg)
|
|
|
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)
|
|
|
NM_002739.5(PRKCG):c.1764+8C>T
|
rs756397908
|
|
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)
|
rs386134159
|
|
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)
|
rs121918516
|
|
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)
|
rs386134172
|
|
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=)
|
rs868833808
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)
|
rs1555808841
|
|
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)
|
rs2122976509
|
|
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter)
|
rs2068614711
|
|
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)
|
rs386134160
|
|
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
|
rs1599938631
|
|
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu)
|
rs17854523
|
|
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)
|
rs386134161
|
|
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)
|
rs121918511
|
|
NM_002739.5(PRKCG):c.302A>G (p.His101Arg)
|
rs2068656783
|
|
NM_002739.5(PRKCG):c.303C>G (p.His101Gln)
|
rs121918518
|
|
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)
|
rs2122988484
|
|
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)
|
rs386134162
|
|
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)
|
rs2068657131
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)
|
rs121918512
|
|
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)
|
rs386134163
|
|
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)
|
rs2122988567
|
|
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)
|
rs386134165
|
|
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)
|
rs1599943097
|
|
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)
|
rs121918515
|
|
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)
|
rs121918515
|
|
NM_002739.5(PRKCG):c.381G>T (p.Gln127His)
|
rs973767996
|
|
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)
|
rs121918513
|
|
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)
|
rs386134166
|
|
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)
|
rs386134167
|
|
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)
|
rs2122988688
|
|
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)
|
rs386134168
|
|
NM_002739.5(PRKCG):c.417C>A (p.His139Gln)
|
rs386134169
|
|
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe)
|
rs386134170
|
|
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)
|
rs1304701232
|
|
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg)
|
rs866406014
|
|
NM_002739.5(PRKCG):c.530_919del
|
|
|
NM_002739.5(PRKCG):c.686+300C>G
|
rs2068681112
|
|
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)
|
rs1471641294
|
|
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr)
|
rs2068685112
|
|
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)
|
rs386134157
|
|
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003194.5(TBP):c.216_218del (p.Gln95del)
|
rs71815788
|
|
NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)
|
|
|
NM_004115.4(FGF14):c.*101_*104del
|
rs886049937
|
|
NM_004115.4(FGF14):c.*1058_*1062dup
|
rs577253536
|
|
NM_004115.4(FGF14):c.*1199A>G
|
rs372768269
|
|
NM_004115.4(FGF14):c.*1251G>A
|
rs2034988925
|
|
NM_004115.4(FGF14):c.*1387_*1390dup
|
rs10626847
|
|
NM_004115.4(FGF14):c.*1445_*1446dup
|
rs141506954
|
|
NM_004115.4(FGF14):c.*1609_*1612del
|
rs747506157
|
|
NM_004115.4(FGF14):c.*1618T>A
|
rs15608
|
|
NM_004115.4(FGF14):c.*1761G>C
|
rs886049931
|
|
NM_004115.4(FGF14):c.*176dup
|
rs144061152
|
|
NM_004115.4(FGF14):c.*1886_*1889dup
|
rs559888067
|
|
NM_004115.4(FGF14):c.*1918T>C
|
rs2034930325
|
|
NM_004115.4(FGF14):c.*1948C>T
|
rs2034928409
|
|
NM_004115.4(FGF14):c.*369A>G
|
rs2035058657
|
|
NM_004115.4(FGF14):c.*535G>T
|
rs897525331
|
|
NM_004115.4(FGF14):c.*658T>G
|
rs2035039616
|
|
NM_004115.4(FGF14):c.*699T>C
|
rs2035036843
|
|
NM_004115.4(FGF14):c.*783C>G
|
rs886049935
|
|
NM_004115.4(FGF14):c.*794GT[4]
|
rs371464074
|
|
NM_004115.4(FGF14):c.*863G>C
|
rs1211426419
|
|
NM_004115.4(FGF14):c.*919_*922dup
|
rs768342824
|
|
NM_004115.4(FGF14):c.*971_*972dup
|
rs34628929
|
|
NM_004115.4(FGF14):c.*972del
|
rs34628929
|
|
NM_004115.4(FGF14):c.*972dup
|
rs34628929
|
|
NM_004115.4(FGF14):c.193+3C>T
|
|
|
NM_004115.4(FGF14):c.194-1G>C
|
|
|
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
|
|
|
NM_004115.4(FGF14):c.408+1G>A
|
|
|
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)
|
rs2035466147
|
|
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser)
|
rs104894393
|
|
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter)
|
rs865878627
|
|
NM_004115.4(FGF14):c.468C>T (p.Ile156=)
|
rs558694053
|
|
NM_004115.4(FGF14):c.487del (p.Arg163fs)
|
rs587776685
|
|
NM_004115.4(FGF14):c.512G>A (p.Trp171Ter)
|
|
|
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter)
|
rs1555370787
|
|
NM_004115.4(FGF14):c.652G>T (p.Val218Phe)
|
rs1432381387
|
|
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg)
|
rs886049938
|
|
NM_004115.4(FGF14):c.693G>A (p.Ala231=)
|
rs34397704
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro)
|
rs2123535291
|
|
NM_004977.3(KCNC3):c.11_12del (p.Ser4fs)
|
rs1555781806
|
|
NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
|
|
|
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)
|
rs104894699
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile)
|
rs879253883
|
|
NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu)
|
rs104894700
|
|
NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp)
|
rs2037143763
|
|
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly)
|
rs1601098237
|
|
NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)
|
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)
|
|
|
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu)
|
rs1284948650
|
|
NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg)
|
rs368232448
|
|
NM_004977.3(KCNC3):c.1876G>T (p.Gly626Trp)
|
rs368232448
|
|
NM_004977.3(KCNC3):c.1903G>A (p.Gly635Arg)
|
|
|
NM_004977.3(KCNC3):c.2014C>G (p.Leu672Val)
|
|
|
NM_004977.3(KCNC3):c.2143C>T (p.Pro715Ser)
|
|
|
NM_004977.3(KCNC3):c.2170+14C>T
|
rs189018316
|
|
NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3])
|
rs764571894
|
|
NM_004977.3(KCNC3):c.98C>G (p.Pro33Arg)
|
|
|
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)
|
rs193922928
|
|
NM_004993.6(ATXN3):c.892CAG[8_36]
|
rs193922928
|
|
NM_005245.4(FAT1):c.5762G>T (p.Gly1921Val)
|
rs2126519477
|
|
NM_005861.4(STUB1):c.134C>A (p.Ala45Glu)
|
rs2151503733
|
|
NM_005861.4(STUB1):c.154G>A (p.Ala52Thr)
|
rs2151503748
|
|
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu)
|
rs2151504167
|
|
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)
|
rs690016544
|
|
NM_005861.4(STUB1):c.199G>A (p.Ala67Thr)
|
rs2151504209
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.525-1G>A
|
rs2151505158
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
NM_005861.4(STUB1):c.669+2T>C
|
|
|
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser)
|
rs2039691550
|
|
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)
|
rs754446573
|
|
NM_005861.4(STUB1):c.721C>T (p.Arg241Trp)
|
rs760424025
|
|
NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)
|
|
|
NM_005861.4(STUB1):c.746G>T (p.Gly249Val)
|
rs2151506587
|
|
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)
|
rs770730338
|
|
NM_005861.4(STUB1):c.791_792del (p.Val264fs)
|
rs1732133553
|
|
NM_005861.4(STUB1):c.807dup (p.Val270fs)
|
rs2151507049
|
|
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)
|
rs2039704195
|
|
NM_005861.4(STUB1):c.823dup (p.Leu275fs)
|
rs2039704361
|
|
NM_005861.4(STUB1):c.876_887del (p.Phe293_Glu296del)
|
|
|
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)
|
rs2039634238
|
|
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
|
|
|
NM_006237.4(POU4F1):c.445G>A (p.Gly149Ser)
|
|
|
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
|
|
|
NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg)
|
rs2086850165
|
|
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
|
|
|
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?]
|
rs1555779353
|
|
NM_006796.3(AFG3L2):c.*311C>T
|
rs79884272
|
|
NM_006796.3(AFG3L2):c.-18A>G
|
rs886053618
|
|
NM_006796.3(AFG3L2):c.-78C>A
|
rs1909190689
|
|
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)
|
rs1598832568
|
|
NM_006796.3(AFG3L2):c.1164+1G>A
|
rs1598832526
|
|
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp)
|
rs1168932758
|
|
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)
|
rs151344512
|
|
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)
|
rs2143165387
|
|
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)
|
rs375098002
|
|
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser)
|
rs1908301962
|
|
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys)
|
|
|
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg)
|
rs2143234608
|
|
NM_006796.3(AFG3L2):c.1664-5G>C
|
rs886053615
|
|
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val)
|
rs756912142
|
|
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
|
rs727502823
|
|
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs)
|
rs2143124461
|
|
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)
|
rs151344513
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)
|
rs151344517
|
|
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)
|
rs151344518
|
|
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)
|
rs151344519
|
|
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)
|
rs797045221
|
|
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser)
|
rs797045221
|
|
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn)
|
rs1598820860
|
|
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)
|
rs151344520
|
|
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu)
|
rs151344521
|
|
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys)
|
rs151344522
|
|
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)
|
rs1598820805
|
|
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe)
|
rs1907781566
|
|
NM_006796.3(AFG3L2):c.215-11_215-6del
|
rs533823759
|
|
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)
|
|
|
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)
|
rs117182113
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His)
|
rs1908967089
|
|
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu)
|
rs886053616
|
|
NM_006796.3(AFG3L2):c.293-14_293-13del
|
rs556473698
|
|
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val)
|
rs866272063
|
|
NM_006796.3(AFG3L2):c.753-55T>C
|
rs7407640
|
|
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=)
|
rs1908570292
|
|
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu)
|
rs886053617
|
|
NM_006885.4:c.10519GGC[42-74]
|
|
|
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)
|
rs541484241
|
|
NM_006946.4(SPTBN2):c.1081G>A (p.Glu361Lys)
|
|
|
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)
|
rs1590955348
|
|
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
|
rs1554986345
|
|
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)
|
rs1941669517
|
|
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)
|
rs1554986337
|
|
NM_006946.4(SPTBN2):c.1351-7G>A
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1351-7G>T
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)
|
rs397514749
|
|
NM_006946.4(SPTBN2):c.1472T>G (p.Leu491Arg)
|
|
|
NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly)
|
rs371919862
|
|
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)
|
rs1554985851
|
|
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=)
|
rs776570497
|
|
NM_006946.4(SPTBN2):c.185C>T (p.Thr62Ile)
|
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)
|
rs1941485201
|
|
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)
|
rs2135526204
|
|
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln)
|
rs1443491358
|
|
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=)
|
rs748341964
|
|
NM_006946.4(SPTBN2):c.2191C>T (p.Arg731Trp)
|
|
|
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=)
|
rs766115824
|
|
NM_006946.4(SPTBN2):c.309+36T>C
|
rs12805133
|
|
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val)
|
rs763021473
|
|
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=)
|
rs886048551
|
|
NM_006946.4(SPTBN2):c.3777-3C>G
|
|
|
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)
|
rs1940772032
|
|
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)
|
rs875989881
|
|
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln)
|
rs886048552
|
|
NM_006946.4(SPTBN2):c.478T>C (p.Phe160Leu)
|
|
|
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly)
|
rs368373337
|
|
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=)
|
rs886048549
|
|
NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup)
|
rs1940534700
|
|
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val)
|
rs1940531426
|
|
NM_006946.4(SPTBN2):c.5581del (p.Asp1861fs)
|
|
|
NM_006946.4(SPTBN2):c.571G>T (p.Ala191Ser)
|
|
|
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp)
|
rs886048547
|
|
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)
|
rs2135319250
|
|
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln)
|
rs541138596
|
|
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
|
|
|
NM_006946.4(SPTBN2):c.6431C>T (p.Thr2144Ile)
|
rs886048546
|
|
NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro)
|
rs886048545
|
|
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln)
|
rs1940196069
|
|
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=)
|
rs750664912
|
|
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
|
|
|
NM_006946.4(SPTBN2):c.7044del (p.Gly2348_Met2349insTer)
|
|
|
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser)
|
rs1940076802
|
|
NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala)
|
rs1940076270
|
|
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)
|
rs121918306
|
|
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)
|
rs1941829953
|
|
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val)
|
rs897181468
|
|
NM_007289.4(MME):c.1095-2A>C
|
rs2108312675
|
|
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)
|
rs184666602
|
|
NM_007289.4(MME):c.2154G>T (p.Arg718Ser)
|
rs1284714866
|
|
NM_007289.4(MME):c.428G>A (p.Cys143Tyr)
|
rs879255651
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007289.4(MME):c.594dup (p.Val199fs)
|
rs1254522989
|
|
NM_012268.4(PLD3):c.602A>T (p.His201Leu)
|
|
|
NM_012268.4(PLD3):c.615G>A (p.Trp205Ter)
|
rs2079032507
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]
|
|
|
NM_013236.4(ATXN10):c.116+4A>T
|
rs1160067775
|
|
NM_013236.4(ATXN10):c.1165C>T (p.Gln389Ter)
|
|
|
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32]
|
rs60726084
|
|
NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)
|
|
|
NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)
|
|
|
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn)
|
rs2095980355
|
|
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=)
|
rs12128526
|
|
NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)
|
|
|
NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)
|
rs2095982231
|
|
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
|
|
|
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
|
|
|
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
|
|
|
NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)
|
rs879255532
|
|
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
|
|
|
NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)
|
|
|
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)
|
rs2148504421
|
|
NM_015215.4(CAMTA1):c.1828C>T (p.Gln610Ter)
|
|
|
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
|
|
|
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
|
|
|
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
|
|
|
NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)
|
rs1557636777
|
|
NM_015215.4(CAMTA1):c.234+62447C>T
|
|
|
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
|
|
|
NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)
|
|
|
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
|
|
|
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
|
|
|
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg)
|
rs2095989201
|
|
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)
|
rs765488241
|
|
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)
|
rs1641438649
|
|
NM_015215.4(CAMTA1):c.2585G>C (p.Gly862Ala)
|
|
|
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
|
|
|
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)
|
rs1576691273
|
|
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter)
|
rs2149221667
|
|
NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)
|
|
|
NM_015215.4(CAMTA1):c.2779+5G>A
|
rs2149222075
|
|
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala)
|
rs2096135808
|
|
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
|
|
|
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)
|
rs1135401818
|
|
NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val)
|
|
|
NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)
|
|
|
NM_015215.4(CAMTA1):c.2981C>G (p.Thr994Arg)
|
|
|
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)
|
rs2149989087
|
|
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)
|
rs863224853
|
|
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val)
|
rs1577305812
|
|
NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)
|
|
|
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)
|
rs2096780961
|
|
NM_015215.4(CAMTA1):c.363del (p.Tyr122fs)
|
rs2149302921
|
|
NM_015215.4(CAMTA1):c.3862A>G (p.Ser1288Gly)
|
|
|
NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC (p.Pro1350fs)
|
rs2096785839
|
|
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)
|
rs2149303084
|
|
NM_015215.4(CAMTA1):c.4103_4104del (p.Glu1368fs)
|
rs1577313897
|
|
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
|
|
|
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile)
|
rs1435279555
|
|
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)
|
rs886041635
|
|
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn)
|
rs1666321359
|
|
NM_015215.4(CAMTA1):c.438+1G>A
|
|
|
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn)
|
rs776553769
|
|
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
|
|
|
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys)
|
rs2096854165
|
|
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
|
|
|
NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)
|
|
|
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)
|
rs2096866595
|
|
NM_015215.4(CAMTA1):c.4622G>T (p.Arg1541Leu)
|
|
|
NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)
|
|
|
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)
|
rs2096866859
|
|
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)
|
rs2150160606
|
|
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)
|
rs2150160765
|
|
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)
|
rs754008719
|
|
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)
|
rs1553280067
|
|
NM_015215.4(CAMTA1):c.4990-3503A>C
|
rs2150309041
|
|
NM_015215.4(CAMTA1):c.511-18459_511-15460del
|
|
|
NM_015215.4(CAMTA1):c.511-22_511-19del
|
rs2095751767
|
|
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)
|
rs1085307743
|
|
NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)
|
|
|
NM_015215.4(CAMTA1):c.699C>G (p.Asn233Lys)
|
|
|
NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)
|
|
|
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)
|
rs1553238311
|
|
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val)
|
rs2149152505
|
|
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)
|
rs1064796146
|
|
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)
|
rs767725186
|
|
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)
|
rs886041999
|
|
NM_018012.4(KIF26B):c.1340G>A (p.Gly447Glu)
|
rs2103102844
|
|
NM_018012.4(KIF26B):c.2023G>C (p.Asp675His)
|
rs752143373
|
|
NM_018012.4(KIF26B):c.5710G>A (p.Asp1904Asn)
|
rs749953234
|
|
NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu)
|
|
|
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala)
|
rs2040529103
|
|
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe)
|
rs201788352
|
|
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr)
|
rs750741896
|
|
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)
|
|
|
NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp)
|
|
|
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg)
|
rs2041195702
|
|
NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr)
|
|
|
NM_018896.5(CACNA1G):c.2509C>T (p.Arg837Cys)
|
|
|
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
|
|
|
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)
|
|
|
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)
|
rs1250995341
|
|
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu)
|
rs536992411
|
|
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)
|
rs886041505
|
|
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr)
|
rs2145513175
|
|
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter)
|
rs2045220988
|
|
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly)
|
rs781015006
|
|
NM_018896.5(CACNA1G):c.3218G>T (p.Gly1073Val)
|
|
|
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
|
|
|
NM_018896.5(CACNA1G):c.354+5GT[13]
|
rs3833150
|
|
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser)
|
rs200024646
|
|
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn)
|
rs2145795264
|
|
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
|
|
|
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln)
|
rs1260560600
|
|
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg)
|
rs2047867072
|
|
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val)
|
rs1555558553
|
|
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
|
|
|
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
|
|
|
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu)
|
rs2145968180
|
|
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly)
|
|
|
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys)
|
rs756359036
|
|
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro)
|
rs1555565684
|
|
NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys)
|
rs1361597066
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter)
|
rs2050911351
|
|
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg)
|
rs2050959815
|
|
NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=)
|
|
|
NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr)
|
rs2144657245
|
|
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu)
|
rs1567964995
|
|
NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1])
|
rs751210873
|
|
NM_018896.5(CACNA1G):c.5705A>C (p.Asp1902Ala)
|
|
|
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro)
|
rs1312607495
|
|
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn)
|
rs2146373286
|
|
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
|
|
|
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)
|
rs2039524843
|
|
NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr)
|
rs1264876481
|
|
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His)
|
rs2053744294
|
|
NM_018896.5(CACNA1G):c.6860C>T (p.Pro2287Leu)
|
|
|
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu)
|
rs1192468690
|
|
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)
|
|
|
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro)
|
rs2053882218
|
|
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)
|
|
|
NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys)
|
|
|
NM_020680.4(SCYL1):c.1509_1510del (p.Ala504fs)
|
rs864309665
|
|
NM_020680.4(SCYL1):c.1534dup (p.Cys512fs)
|
rs1590740858
|
|
NM_020680.4(SCYL1):c.937del (p.Val313fs)
|
rs864309664
|
|
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)
|
rs587777671
|
|
NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu)
|
rs1766783949
|
|
NM_021814.5(ELOVL5):c.246+3859C>G
|
|
|
NM_021814.5(ELOVL5):c.332G>A (p.Arg111His)
|
|
|
NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser)
|
rs1766062667
|
|
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)
|
rs587777670
|
|
NM_021814.5(ELOVL5):c.692G>T (p.Trp231Leu)
|
|
|
NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)
|
|
|
NM_022114.4(PRDM16):c.439-11715_439-4716del
|
|
|
NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val)
|
rs1774342487
|
|
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)
|
rs587777598
|
|
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)
|
rs1554162301
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly)
|
rs1131692036
|
|
NM_024411.4(PDYN):c.-402C>G
|
rs775379753
|
|
NM_024411.5(PDYN):c.*1065C>T
|
rs953182789
|
|
NM_024411.5(PDYN):c.*1274T>G
|
rs886056529
|
|
NM_024411.5(PDYN):c.*1394C>A
|
rs112661575
|
|
NM_024411.5(PDYN):c.*1394C>T
|
rs112661575
|
|
NM_024411.5(PDYN):c.*389A>T
|
rs1987615154
|
|
NM_024411.5(PDYN):c.*449_*459delinsTAA
|
rs886056533
|
|
NM_024411.5(PDYN):c.*556C>A
|
rs73571349
|
|
NM_024411.5(PDYN):c.*65C>G
|
rs1987645885
|
|
NM_024411.5(PDYN):c.*670A>T
|
rs879202411
|
|
NM_024411.5(PDYN):c.*700_*703del
|
rs572674195
|
|
NM_024411.5(PDYN):c.*760G>C
|
rs767631485
|
|
NM_024411.5(PDYN):c.*771T>C
|
rs910079
|
|
NM_024411.5(PDYN):c.-42A>T
|
rs886056536
|
|
NM_024411.5(PDYN):c.-43G>A
|
rs947395569
|
|
NM_024411.5(PDYN):c.217A>G (p.Thr73Ala)
|
rs786205212
|
|
NM_024411.5(PDYN):c.244T>C (p.Leu82=)
|
rs987477947
|
|
NM_024411.5(PDYN):c.405C>T (p.Asp135=)
|
rs147181436
|
|
NM_024411.5(PDYN):c.496del (p.Glu166fs)
|
rs768036104
|
|
NM_024411.5(PDYN):c.582C>T (p.Asp194=)
|
rs769461186
|
|
NM_024411.5(PDYN):c.630C>G (p.Phe210Leu)
|
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
NM_024411.5(PDYN):c.691C>T (p.Arg231Trp)
|
rs201204862
|
|
NM_024411.5(PDYN):c.718T>A (p.Ser240Thr)
|
|
|
NM_024411.5(PDYN):c.86G>T (p.Cys29Phe)
|
rs1987927570
|
|
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
|
|
|
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)
|
rs374052333
|
|
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter)
|
rs540839115
|
|
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu)
|
rs886039762
|
|
NM_033109.5(PNPT1):c.2014-3C>G
|
rs748445058
|
|
NM_033109.5(PNPT1):c.2069+3A>G
|
rs2104026165
|
|
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
|
|
|
NM_152296.5(ATP1A3):c.*247C>T
|
rs565195548
|
|
NM_152296.5(ATP1A3):c.-130GACG[3]
|
rs879996553
|
|
NM_152296.5(ATP1A3):c.1192+7G>A
|
rs374826826
|
|
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser)
|
rs2075231562
|
|
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)
|
rs782583311
|
|
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)
|
rs376852509
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)
|
rs1135401822
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)
|
rs557939077
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)
|
rs1599705281
|
|
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)
|
rs2145946065
|
|
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
|
|
|
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
|
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
|
|
|
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)
|
rs1135401821
|
|
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
|
|
|
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)
|
rs782230953
|
|
NM_152296.5(ATP1A3):c.808G>A (p.Gly270Ser)
|
|
|
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)
|
rs782266448
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)
|
rs863224847
|
|
NM_152703.5(SAMD9L):c.1096T>C (p.Phe366Leu)
|
|
|
NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala)
|
rs751090202
|
|
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)
|
rs1554341671
|
|
NM_152703.5(SAMD9L):c.3932A>T (p.Asp1311Val)
|
|
|
NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs)
|
rs745823605
|
|
NM_152703.5(SAMD9L):c.499C>A (p.Pro167Thr)
|
|
|
NM_173500.4(TTBK2):c.*507T>G
|
rs886051162
|
|
NM_173500.4(TTBK2):c.*548C>T
|
rs1782579071
|
|
NM_173500.4(TTBK2):c.*604T>C
|
rs886051161
|
|
NM_173500.4(TTBK2):c.*690dup
|
rs886051160
|
|
NM_173500.4(TTBK2):c.*953A>G
|
rs934539405
|
|
NM_173500.4(TTBK2):c.-125C>G
|
rs1428784964
|
|
NM_173500.4(TTBK2):c.-281GCC[5]
|
rs377202784
|
|
NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys)
|
rs1889967626
|
|
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)
|
rs80356539
|
|
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)
|
rs318240735
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)
|
rs577577749
|
|
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.1675del (p.Gln559fs)
|
rs2140757755
|
|
NM_173500.4(TTBK2):c.2030C>G (p.Thr677Arg)
|
|
|
NM_173500.4(TTBK2):c.2107G>A (p.Glu703Lys)
|
|
|
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)
|
rs778218227
|
|
NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)
|
|
|
NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly)
|
rs1476451255
|
|
NM_173500.4(TTBK2):c.2928A>T (p.Pro976=)
|
rs1567000293
|
|
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)
|
rs377620628
|
|
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)
|
rs2140986045
|
|
NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)
|
|
|
NM_173500.4(TTBK2):c.3329G>T (p.Arg1110Leu)
|
rs146279300
|
|
NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)
|
rs2061791617
|
|
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)
|
rs770444240
|
|
NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)
|
rs1566996154
|
|
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)
|
rs563297091
|
|
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)
|
rs933067569
|
|
NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)
|
|
|
NM_175929.3(FGF14):c.208+239747CTT[250]
|
|
|
NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])
|
|
|
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val)
|
rs1554126530
|
|
NM_181675.4(PPP2R2B):c.737C>A (p.Thr246Lys)
|
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)
|
rs964195568
|
|
NM_181882.3(PRX):c.3587del (p.Gly1196fs)
|
rs1317590341
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_198994.2(TGM6):c.425_435del11
|
rs1222726216
|
|
NM_198994.3(TGM6):c.-36T>C
|
rs371018532
|
|
NM_198994.3(TGM6):c.-5T>A
|
rs886056550
|
|
NM_198994.3(TGM6):c.1093+1G>T
|
|
|
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp)
|
rs2122375873
|
|
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
|
|
|
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val)
|
rs552530897
|
|
NM_198994.3(TGM6):c.1336+1G>T
|
rs2122376594
|
|
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr)
|
rs1265293202
|
|
NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys)
|
rs267605859
|
|
NM_198994.3(TGM6):c.1653C>T (p.His551=)
|
rs755072071
|
|
NM_198994.3(TGM6):c.1678+11G>T
|
rs376838053
|
|
NM_198994.3(TGM6):c.1678+12C>A
|
rs1171960882
|
|
NM_198994.3(TGM6):c.1719AGA[1] (p.Glu574del)
|
rs793888526
|
|
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup)
|
rs557817405
|
|
NM_198994.3(TGM6):c.1967+59AG[2]
|
rs60388755
|
|
NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser)
|
rs76002756
|
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NM_198994.3(TGM6):c.303C>T (p.Leu101=)
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rs757250219
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NM_198994.3(TGM6):c.491T>A (p.Ile164Asn)
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NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
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NM_198994.3(TGM6):c.64A>G (p.Thr22Ala)
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rs773079291
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NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
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NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)
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rs766248910
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NM_198994.3(TGM6):c.897del (p.Ser300fs)
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NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr)
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rs748573955
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NM_198994.3(TGM6):c.95T>G (p.Val32Gly)
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rs886056551
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NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
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NR_002717.2(ATXN8OS):n.1103CTG[15_40]
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Single allele
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