NM_198994.3(TGM6):c.1968-10C>T
|
rs6036467
|
0.98682
|
NM_198994.3(TGM6):c.172A>G (p.Met58Val)
|
rs2076405
|
0.93204
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
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_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_006796.3(AFG3L2):c.752+6C>T
|
rs8097342
|
0.67671
|
NM_198994.3(TGM6):c.850+12G>A
|
rs2076404
|
0.61481
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
NM_173500.4(TTBK2):c.-250G>C
|
rs12437637
|
0.57925
|
NM_024411.4(PDYN):c.-381A>G
|
rs1997794
|
0.49716
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
NM_198994.3(TGM6):c.*31T>C
|
rs2076652
|
0.44571
|
NM_198994.3(TGM6):c.1968-11C>T
|
rs2076653
|
0.44564
|
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_024411.5(PDYN):c.*743T>C
|
rs910080
|
0.35005
|
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_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188
|
0.16558
|
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_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_173500.4(TTBK2):c.-8G>A
|
rs16957250
|
0.08720
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
NM_198994.3(TGM6):c.1093+5G>A
|
rs6137891
|
0.07885
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
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_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_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_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_004115.4(FGF14):c.*1063G>A
|
rs58555898
|
0.01834
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His)
|
rs35532855
|
0.01604
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088
|
0.01447
|
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=)
|
rs34748547
|
0.01444
|
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)
|
rs147979536
|
0.01429
|
NM_198994.3(TGM6):c.989+11C>T
|
rs6048684
|
0.01409
|
NM_004115.4(FGF14):c.481T>C (p.Leu161=)
|
rs77082831
|
0.01311
|
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=)
|
rs73098087
|
0.01305
|
NM_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_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_004115.4(FGF14):c.*31G>A
|
rs149661933
|
0.01007
|
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)
|
rs56307230
|
0.01001
|
NM_024411.5(PDYN):c.*1029A>G
|
rs115095625
|
0.00982
|
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=)
|
rs61741217
|
0.00966
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196
|
0.00962
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=)
|
rs34117933
|
0.00956
|
NM_173500.4(TTBK2):c.*1162T>A
|
rs79592696
|
0.00943
|
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)
|
rs145220403
|
0.00924
|
NM_006796.3(AFG3L2):c.*109A>C
|
rs114203162
|
0.00915
|
NM_001378452.1(ITPR1):c.3327+12C>T
|
rs116022052
|
0.00894
|
NM_002739.5(PRKCG):c.*199C>T
|
rs114091656
|
0.00888
|
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)
|
rs114788199
|
0.00819
|
NM_001378452.1(ITPR1):c.1251+10G>A
|
rs75936691
|
0.00811
|
NM_000784.3(CYP27A1):c.-370T>C
|
rs182545847
|
0.00800
|
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_024411.5(PDYN):c.575A>T (p.Glu192Val)
|
rs45469293
|
0.00742
|
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln)
|
rs75122556
|
0.00731
|
NM_198994.3(TGM6):c.42G>A (p.Ser14=)
|
rs149394698
|
0.00719
|
NM_004115.4(FGF14):c.*744C>A
|
rs79379700
|
0.00714
|
NM_006946.4(SPTBN2):c.4985+11C>T
|
rs11227572
|
0.00707
|
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr)
|
rs79724097
|
0.00706
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_024411.5(PDYN):c.*1443G>A
|
rs148395893
|
0.00643
|
NM_198994.3(TGM6):c.1656C>T (p.Ala552=)
|
rs75601099
|
0.00634
|
NM_006796.3(AFG3L2):c.-71C>T
|
rs571340907
|
0.00605
|
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=)
|
rs35047189
|
0.00575
|
NM_198994.3(TGM6):c.1657G>A (p.Val553Met)
|
rs74338361
|
0.00574
|
NM_173500.4(TTBK2):c.*966C>T
|
rs145576687
|
0.00571
|
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)
|
rs138819654
|
0.00560
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
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_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001378452.1(ITPR1):c.6510+7T>C
|
rs115430385
|
0.00496
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238
|
0.00495
|
NM_006796.3(AFG3L2):c.-137G>C
|
rs191000529
|
0.00494
|
NM_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_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_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_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_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00381
|
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu)
|
rs61729226
|
0.00370
|
NM_000784.3(CYP27A1):c.-205C>A
|
rs187723732
|
0.00357
|
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_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317
|
0.00322
|
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=)
|
rs139528715
|
0.00306
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)
|
rs35946460
|
0.00289
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_006946.4(SPTBN2):c.*546T>C
|
rs539068045
|
0.00285
|
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala)
|
rs56017612
|
0.00284
|
NM_006946.4(SPTBN2):c.5950-8G>A
|
rs201759431
|
0.00277
|
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)
|
rs146515654
|
0.00267
|
NM_004115.4(FGF14):c.*1118G>A
|
rs147404825
|
0.00250
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_198994.3(TGM6):c.*87C>A
|
rs45544131
|
0.00240
|
NM_001378452.1(ITPR1):c.*979A>T
|
rs147782346
|
0.00226
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
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_002739.5(PRKCG):c.1941C>T (p.Phe647=)
|
rs2242243
|
0.00188
|
NM_006796.3(AFG3L2):c.1664-9T>C
|
rs200476229
|
0.00182
|
NM_001378452.1(ITPR1):c.*1196T>C
|
rs565045968
|
0.00178
|
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_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_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_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_173500.4(TTBK2):c.*581A>T
|
rs575564250
|
0.00142
|
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)
|
rs55833708
|
0.00138
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)
|
rs144199562
|
0.00136
|
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser)
|
rs138807504
|
0.00136
|
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys)
|
rs144338465
|
0.00135
|
NM_006946.4(SPTBN2):c.1654-13G>A
|
rs200980512
|
0.00134
|
NM_006796.3(AFG3L2):c.-32C>T
|
rs556432963
|
0.00133
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510
|
0.00132
|
NM_006946.4(SPTBN2):c.1807+13C>T
|
rs151122248
|
0.00132
|
NM_024411.5(PDYN):c.*1071G>A
|
rs752953257
|
0.00129
|
NM_000784.3(CYP27A1):c.-335C>T
|
rs528284503
|
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_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
NM_001378452.1(ITPR1):c.*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_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_024411.4(PDYN):c.-382C>T
|
rs188187030
|
0.00081
|
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala)
|
rs144094215
|
0.00080
|
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_006796.3(AFG3L2):c.*379T>A
|
rs150224434
|
0.00073
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
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_001378452.1(ITPR1):c.1926C>T (p.Asn642=)
|
rs61757106
|
0.00066
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862
|
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_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)
|
rs150607879
|
0.00061
|
NM_173500.4(TTBK2):c.*580T>A
|
rs544516599
|
0.00061
|
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_173500.4(TTBK2):c.*744G>A
|
rs769283772
|
0.00058
|
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_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_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_004115.4(FGF14):c.*553C>T
|
rs150580343
|
0.00053
|
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_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_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_004115.4(FGF14):c.*176C>G
|
rs191705440
|
0.00039
|
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_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_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_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=)
|
rs41290672
|
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_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
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_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_000784.4(CYP27A1):c.*47G>A
|
rs140059093
|
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_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_198994.3(TGM6):c.1171G>A (p.Val391Met)
|
rs116904482
|
0.00026
|
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)
|
rs367814655
|
0.00025
|
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_000784.4(CYP27A1):c.*195G>C
|
rs886055632
|
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_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_198994.3(TGM6):c.940G>A (p.Val314Met)
|
rs202184911
|
0.00021
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
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_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_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_000784.4(CYP27A1):c.1017+5G>A
|
rs370304209
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
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_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_024411.5(PDYN):c.*836C>G
|
rs80315813
|
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_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.789C>T (p.Phe263=)
|
rs369681244
|
0.00014
|
NM_006796.2(AFG3L2):c.-206C>A
|
rs564906201
|
0.00014
|
NM_006796.2(AFG3L2):c.-207T>A
|
rs533486310
|
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_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
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_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_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00012
|
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_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
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_173500.4(TTBK2):c.-68+15C>G
|
rs886051163
|
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_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_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_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_198994.3(TGM6):c.990-6T>C
|
rs370391681
|
0.00009
|
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_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_024411.5(PDYN):c.*522C>T
|
rs886056532
|
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_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
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_002739.5(PRKCG):c.498G>T (p.Arg166=)
|
rs148370843
|
0.00007
|
NM_004115.4(FGF14):c.*567G>C
|
rs546536488
|
0.00007
|
NM_006796.2(AFG3L2):c.-151C>T
|
rs554944971
|
0.00007
|
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)
|
rs753324919
|
0.00007
|
NM_198994.3(TGM6):c.834C>T (p.Ala278=)
|
rs371740473
|
0.00007
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
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_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_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_173500.4(TTBK2):c.*33A>C
|
rs149561490
|
0.00006
|
NM_173500.4(TTBK2):c.*847T>C
|
rs567667407
|
0.00006
|
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_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_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_024411.5(PDYN):c.538C>T (p.Arg180Cys)
|
rs370283678
|
0.00005
|
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)
|
rs200437800
|
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_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
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_001378452.1(ITPR1):c.3195C>T (p.His1065=)
|
rs745351516
|
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_004115.4(FGF14):c.*1741T>C
|
rs529644559
|
0.00004
|
NM_004115.4(FGF14):c.477C>T (p.Ser159=)
|
rs776794756
|
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.924G>C (p.Glu308Asp)
|
rs564046722
|
0.00004
|
NM_024411.5(PDYN):c.*261C>T
|
rs886056534
|
0.00004
|
NM_024411.5(PDYN):c.*320C>T
|
rs1022899056
|
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.543+7A>G
|
rs755777005
|
0.00004
|
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser)
|
rs182249285
|
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_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn)
|
rs775027289
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
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.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_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_004115.4(FGF14):c.*777C>A
|
rs886049936
|
0.00003
|
NM_006796.3(AFG3L2):c.1426+9A>T
|
rs377339236
|
0.00003
|
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp)
|
rs768999765
|
0.00003
|
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=)
|
rs774265056
|
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_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.816C>T (p.Gly272=)
|
rs368599004
|
0.00003
|
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
|
rs778424069
|
0.00002
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
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_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.3514C>G (p.Pro1172Ala)
|
rs773251870
|
0.00002
|
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val)
|
rs773701050
|
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_002222.6(ITPR1):c.*1311G>A
|
rs772889585
|
0.00002
|
NM_002739.5(PRKCG):c.-233C>T
|
rs752173466
|
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_006796.3(AFG3L2):c.-56C>A
|
rs886053619
|
0.00002
|
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=)
|
rs540897209
|
0.00002
|
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr)
|
rs765561071
|
0.00002
|
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu)
|
rs376249009
|
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_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_000784.3(CYP27A1):c.-162C>T
|
rs886055629
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
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.2006+13C>A
|
rs1181863539
|
0.00001
|
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=)
|
rs779948053
|
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.3162-9C>T
|
rs1159582623
|
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_002222.6(ITPR1):c.*1481delG
|
rs886058656
|
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.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_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_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.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.2412C>T (p.Asp804=)
|
rs770555771
|
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.3453A>G (p.Gly1151=)
|
rs768932281
|
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.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.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.6757G>A (p.Gly2253Arg)
|
rs201670045
|
0.00001
|
NM_006946.4(SPTBN2):c.6897-4A>G
|
rs1262014282
|
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_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.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.787A>G (p.Lys263Glu)
|
rs886056552
|
0.00001
|
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln)
|
rs776511523
|
0.00001
|
NM_000784.3(CYP27A1):c.-182C>T
|
rs886055628
|
|
NM_000784.3(CYP27A1):c.-357dup
|
rs397795841
|
|
NM_000784.4(CYP27A1):c.*153G>C
|
rs886055631
|
|
NM_000784.4(CYP27A1):c.*209G>A
|
rs540140393
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
|
rs1943690611
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.447-3C>T
|
rs770217459
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
|
rs1943740072
|
|
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile)
|
rs1187853515
|
|
NM_001020658.2(PUM1):c.896C>A (p.Pro299His)
|
rs1641834551
|
|
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_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.1125G>A (p.Leu375=)
|
rs2306869
|
|
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=)
|
rs2306869
|
|
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.1623C>T (p.Leu541=)
|
rs886058612
|
|
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly)
|
rs2093921786
|
|
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.2940C>G (p.Thr980=)
|
rs886058614
|
|
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=)
|
rs541386070
|
|
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.4669G>T (p.Ala1557Ser)
|
rs886058615
|
|
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.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.5529C>G (p.Gly1843=)
|
rs776891199
|
|
NM_001378452.1(ITPR1):c.5725+15G>A
|
rs2045841537
|
|
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=)
|
rs1157485528
|
|
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.7562-11C>T
|
rs368532017
|
|
NM_001378452.1(ITPR1):c.7677T>C (p.Asp2559=)
|
rs886058626
|
|
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=)
|
rs775463557
|
|
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=)
|
rs2050964614
|
|
NM_001378452.1(ITPR1):c.8190+13_8190+14del
|
rs552585900
|
|
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_002739.5(PRKCG):c.*39C>T
|
rs776490487
|
|
NM_002739.5(PRKCG):c.*59dup
|
rs144706041
|
|
NM_002739.5(PRKCG):c.1764+8C>T
|
rs756397908
|
|
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=)
|
rs868833808
|
|
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.468C>T (p.Ile156=)
|
rs558694053
|
|
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg)
|
rs886049938
|
|
NM_004115.4(FGF14):c.693G>A (p.Ala231=)
|
rs34397704
|
|
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.1397C>T (p.Pro466Leu)
|
rs375098002
|
|
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser)
|
rs1908301962
|
|
NM_006796.3(AFG3L2):c.1664-5G>C
|
rs886053615
|
|
NM_006796.3(AFG3L2):c.215-11_215-6del
|
rs533823759
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
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.891G>A (p.Lys297=)
|
rs1908570292
|
|
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu)
|
rs886053617
|
|
NM_006946.4(SPTBN2):c.1081G>A (p.Glu361Lys)
|
|
|
NM_006946.4(SPTBN2):c.1351-7G>A
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1351-7G>T
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=)
|
rs776570497
|
|
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=)
|
rs748341964
|
|
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=)
|
rs766115824
|
|
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=)
|
rs886048551
|
|
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln)
|
rs886048552
|
|
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=)
|
rs886048549
|
|
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp)
|
rs886048547
|
|
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln)
|
rs541138596
|
|
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.6735C>T (p.Asn2245=)
|
rs750664912
|
|
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
|
|
|
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile)
|
rs1435279555
|
|
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.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.691C>T (p.Arg231Trp)
|
rs201204862
|
|
NM_024411.5(PDYN):c.86G>T (p.Cys29Phe)
|
rs1987927570
|
|
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.1499G>C (p.Arg500Pro)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)
|
rs56039839
|
|
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.3432A>G (p.Pro1144=)
|
rs2061791617
|
|
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)
|
rs563297091
|
|
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)
|
rs933067569
|
|
NM_198994.3(TGM6):c.-36T>C
|
rs371018532
|
|
NM_198994.3(TGM6):c.-5T>A
|
rs886056550
|
|
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val)
|
rs552530897
|
|
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.1953_1955dup (p.Gln652dup)
|
rs557817405
|
|
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.913G>T (p.Asp305Tyr)
|
rs748573955
|
|
NM_198994.3(TGM6):c.95T>G (p.Val32Gly)
|
rs886056551
|
|