ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2339
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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
NM_198994.3(TGM6):c.303C>T (p.Leu101=) rs757250219
NM_198994.3(TGM6):c.491T>A (p.Ile164Asn)
NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
NM_198994.3(TGM6):c.64A>G (p.Thr22Ala) rs773079291
NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) rs766248910
NM_198994.3(TGM6):c.897del (p.Ser300fs)
NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr) rs748573955
NM_198994.3(TGM6):c.95T>G (p.Val32Gly) rs886056551
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
NR_002717.2(ATXN8OS):n.1103CTG[15_40]
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.