NM_014053.4(FLVCR1):c.*1566A>T
|
rs113327053
|
0.05268
|
NM_014363.6(SACS):c.-531G>A
|
rs73154650
|
0.02896
|
NM_001378452.1(ITPR1):c.*1170C>A
|
rs202059633
|
0.02047
|
NM_018075.5(ANO10):c.*179C>T
|
rs111871863
|
0.01862
|
NM_014053.4(FLVCR1):c.-156del
|
rs373452417
|
0.01681
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_014053.4(FLVCR1):c.*2059T>C
|
rs6688825
|
0.01209
|
NM_001378452.1(ITPR1):c.*1185C>A
|
rs867347513
|
0.01135
|
NM_018075.5(ANO10):c.-104C>T
|
rs6799022
|
0.01014
|
NM_014363.6(SACS):c.-219A>G
|
rs74495070
|
0.01003
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_014363.6(SACS):c.*916T>A
|
rs75389729
|
0.00926
|
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)
|
rs61761068
|
0.00859
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_000784.3(CYP27A1):c.-370T>C
|
rs182545847
|
0.00800
|
NM_000370.3(TTPA):c.*578T>C
|
rs886063065
|
0.00730
|
NM_020247.5(COQ8A):c.*349G>A
|
rs113041399
|
0.00729
|
NM_018075.5(ANO10):c.*447G>A
|
rs112787589
|
0.00714
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_001378615.1(CC2D2A):c.-18-2673G>A
|
rs183968785
|
0.00636
|
NM_018075.5(ANO10):c.-83T>C
|
rs760135054
|
0.00581
|
NM_001195248.2(APTX):c.*806G>A
|
rs113556331
|
0.00570
|
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)
|
rs111529228
|
0.00567
|
NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
NM_033064.5(ATCAY):c.*1193T>A
|
rs192536222
|
0.00517
|
NM_015046.7(SETX):c.-107C>T
|
rs190832998
|
0.00516
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_001044385.3(TMEM237):c.*962A>C
|
rs142403941
|
0.00484
|
NM_001044385.3(TMEM237):c.*969A>G
|
rs137925244
|
0.00484
|
NM_018075.5(ANO10):c.*368C>T
|
rs114561351
|
0.00457
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541
|
0.00454
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
NM_014053.4(FLVCR1):c.*1739C>T
|
rs191112278
|
0.00444
|
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu)
|
rs145980033
|
0.00420
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_014363.6(SACS):c.*821A>G
|
rs145184122
|
0.00401
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_000784.3(CYP27A1):c.-205C>A
|
rs187723732
|
0.00357
|
NM_014363.6(SACS):c.171+13C>T
|
rs374672041
|
0.00347
|
NM_018075.5(ANO10):c.-31G>C
|
rs533146042
|
0.00347
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
NM_014363.6(SACS):c.*625T>A
|
rs186505479
|
0.00341
|
NM_002739.5(PRKCG):c.*427T>C
|
rs886054615
|
0.00334
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_018319.3(TDP1):c.-292G>T
|
rs577403021
|
0.00332
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_018718.3(CEP41):c.*2116T>C
|
rs190709953
|
0.00306
|
NM_018319.4(TDP1):c.*496G>A
|
rs34796911
|
0.00305
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_018718.3(CEP41):c.*593G>A
|
rs186685101
|
0.00290
|
NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu)
|
rs147031440
|
0.00290
|
NM_018718.3(CEP41):c.*4322G>A
|
rs538898722
|
0.00283
|
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln)
|
rs61732728
|
0.00281
|
NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser)
|
rs62620227
|
0.00280
|
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu)
|
rs12407578
|
0.00280
|
NM_017791.3(FLVCR2):c.*756A>G
|
rs78654241
|
0.00279
|
NM_014053.4(FLVCR1):c.*2164G>A
|
rs143656000
|
0.00270
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468
|
0.00264
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
NM_014363.6(SACS):c.-367C>A
|
rs145469796
|
0.00245
|
NM_014363.6(SACS):c.-59C>A
|
rs150561537
|
0.00242
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_000384.3(APOB):c.3843C>T (p.Ser1281=)
|
rs72653079
|
0.00240
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)
|
rs150070697
|
0.00229
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_014053.4(FLVCR1):c.*3226T>C
|
rs114795134
|
0.00221
|
NM_018718.3(CEP41):c.*1974A>G
|
rs185337247
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_014363.6(SACS):c.*777T>C
|
rs77645021
|
0.00211
|
NM_001386140.1(MTTP):c.*382T>C
|
rs556994625
|
0.00210
|
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys)
|
rs41297444
|
0.00210
|
NM_033064.5(ATCAY):c.*687C>A
|
rs377406299
|
0.00209
|
NM_001173990.3(TMEM216):c.*107G>T
|
rs535550368
|
0.00203
|
NM_015272.5(RPGRIP1L):c.*1385A>G
|
rs150194508
|
0.00201
|
NM_004115.4(FGF14):c.*414T>C
|
rs557390242
|
0.00200
|
NM_018718.3(CEP41):c.*3274G>A
|
rs112007936
|
0.00199
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_015272.5(RPGRIP1L):c.*1461A>T
|
rs184079732
|
0.00195
|
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)
|
rs143947747
|
0.00194
|
NM_003383.5(VLDLR):c.*46C>G
|
rs35412127
|
0.00193
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_018075.5(ANO10):c.1954A>G (p.Met652Val)
|
rs147989825
|
0.00180
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_018718.3(CEP41):c.*1056A>C
|
rs574982700
|
0.00170
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_020247.4(COQ8A):c.-137C>A
|
rs557786445
|
0.00166
|
NM_033064.5(ATCAY):c.*3332C>A
|
rs59578136
|
0.00165
|
NM_001044385.3(TMEM237):c.*308T>G
|
rs185380807
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_018718.3(CEP41):c.*5068G>A
|
rs148856430
|
0.00163
|
NM_018718.3(CEP41):c.*740C>T
|
rs553917711
|
0.00161
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_001044385.3(TMEM237):c.*3855A>G
|
rs187328136
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)
|
rs142295786
|
0.00150
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_001134831.2(AHI1):c.*1404A>G
|
rs149288894
|
0.00148
|
NM_016169.4(SUFU):c.528C>T (p.His176=)
|
rs150569584
|
0.00148
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_015046.7(SETX):c.*1800C>T
|
rs147200829
|
0.00144
|
NM_015272.5(RPGRIP1L):c.-9C>T
|
rs779839225
|
0.00143
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_001044385.3(TMEM237):c.*1382C>T
|
rs187040024
|
0.00140
|
NM_001044385.3(TMEM237):c.*3728A>G
|
rs555315551
|
0.00140
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00140
|
NM_001128178.3(NPHP1):c.*250C>T
|
rs150558683
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_001372574.1(ATXN2):c.-266C>T
|
rs536609944
|
0.00138
|
NM_018718.3(CEP41):c.*2389G>A
|
rs73152867
|
0.00138
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_006946.4(SPTBN2):c.1654-13G>A
|
rs200980512
|
0.00134
|
NM_182961.4(SYNE1):c.18574-13T>C
|
rs148664724
|
0.00134
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
NM_014053.4(FLVCR1):c.738+9T>C
|
rs41296696
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_015046.7(SETX):c.-70T>C
|
rs72765839
|
0.00131
|
NM_014053.4(FLVCR1):c.*1627T>G
|
rs529311781
|
0.00130
|
NM_024411.5(PDYN):c.*1071G>A
|
rs752953257
|
0.00129
|
NM_000784.3(CYP27A1):c.-335C>T
|
rs528284503
|
0.00128
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00126
|
NM_006946.4(SPTBN2):c.*71G>A
|
rs572522164
|
0.00125
|
NM_033064.5(ATCAY):c.1053G>A (p.Glu351=)
|
rs369876142
|
0.00125
|
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys)
|
rs138745849
|
0.00125
|
NM_006796.3(AFG3L2):c.114+12C>T
|
rs758470020
|
0.00124
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189
|
0.00121
|
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)
|
rs186264635
|
0.00120
|
NM_018718.3(CEP41):c.*4216C>T
|
rs187549864
|
0.00117
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001134831.2(AHI1):c.*1288T>C
|
rs886061103
|
0.00111
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_015378.4(VPS13D):c.1414+5G>A
|
rs190463258
|
0.00110
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
NM_015272.5(RPGRIP1L):c.*1482G>A
|
rs192765976
|
0.00108
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_033064.5(ATCAY):c.-198C>G
|
rs553381633
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)
|
rs149090172
|
0.00103
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_018718.3(CEP41):c.*1579T>C
|
rs554826749
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_001378615.1(CC2D2A):c.-47G>A
|
rs778112215
|
0.00100
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00100
|
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
|
rs143144795
|
0.00099
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00099
|
NM_006946.4(SPTBN2):c.4985+12G>A
|
rs199692345
|
0.00098
|
NM_014363.6(SACS):c.*1108G>A
|
rs139956143
|
0.00098
|
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)
|
rs199608505
|
0.00096
|
NM_018718.3(CEP41):c.*4244C>G
|
rs544508687
|
0.00096
|
NM_033064.5(ATCAY):c.1106+10A>T
|
rs199991972
|
0.00096
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_173500.4(TTBK2):c.*1153G>A
|
rs781080005
|
0.00093
|
NM_014363.6(SACS):c.-331A>C
|
rs560626127
|
0.00092
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
0.00091
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=)
|
rs6147
|
0.00088
|
NM_018718.3(CEP41):c.*3541G>A
|
rs376434190
|
0.00088
|
NM_006796.3(AFG3L2):c.-92T>C
|
rs574201536
|
0.00087
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_014363.6(SACS):c.-173C>A
|
rs139517739
|
0.00085
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_020247.5(COQ8A):c.*425G>T
|
rs552968994
|
0.00085
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_018718.3(CEP41):c.*680G>A
|
rs146622910
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs)
|
rs1290125655
|
0.00082
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
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_033064.5(ATCAY):c.*3203G>A
|
rs539627639
|
0.00081
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_018718.3(CEP41):c.*4908G>A
|
rs552988501
|
0.00080
|
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys)
|
rs112513009
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_015272.5(RPGRIP1L):c.*1510G>A
|
rs140374059
|
0.00079
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
0.00078
|
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)
|
rs201940261
|
0.00078
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val)
|
rs202073376
|
0.00078
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
NM_001134831.2(AHI1):c.*1146T>A
|
rs557989991
|
0.00076
|
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile)
|
rs141670485
|
0.00076
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_006796.3(AFG3L2):c.*379T>A
|
rs150224434
|
0.00073
|
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala)
|
rs146488112
|
0.00073
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His)
|
rs144891748
|
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_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_014053.4(FLVCR1):c.*1454G>A
|
rs565177366
|
0.00070
|
NM_173500.4(TTBK2):c.-321C>A
|
rs760435890
|
0.00070
|
NM_014053.4(FLVCR1):c.*32T>C
|
rs374779364
|
0.00068
|
NM_015272.5(RPGRIP1L):c.*1309C>A
|
rs145688896
|
0.00068
|
NM_018075.5(ANO10):c.1914+3G>A
|
rs113187031
|
0.00068
|
NM_000370.3(TTPA):c.*776C>T
|
rs886063063
|
0.00067
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_004115.4(FGF14):c.*974G>A
|
rs886049934
|
0.00067
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
NM_016169.4(SUFU):c.*476A>G
|
rs575192580
|
0.00066
|
NM_033064.5(ATCAY):c.*2282C>T
|
rs759377240
|
0.00066
|
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile)
|
rs141213887
|
0.00066
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)
|
rs138218277
|
0.00064
|
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)
|
rs149887215
|
0.00064
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val)
|
rs202130417
|
0.00063
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_016464.5(TMEM138):c.*228C>G
|
rs536120944
|
0.00063
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
NM_004115.4(FGF14):c.*1220_*1223dup
|
rs546246953
|
0.00062
|
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr)
|
rs369748157
|
0.00061
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)
|
rs200157359
|
0.00061
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_018075.5(ANO10):c.*91G>A
|
rs776954907
|
0.00061
|
NM_033064.5(ATCAY):c.36C>T (p.Asn12=)
|
rs368213837
|
0.00061
|
NM_173500.4(TTBK2):c.*580T>A
|
rs544516599
|
0.00061
|
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)
|
rs144056525
|
0.00061
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val)
|
rs201343662
|
0.00060
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_033064.5(ATCAY):c.*1427A>T
|
rs536842684
|
0.00060
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_016464.5(TMEM138):c.461G>A (p.Arg154His)
|
rs147966742
|
0.00059
|
NM_017791.3(FLVCR2):c.*18C>T
|
rs369026585
|
0.00059
|
NM_018718.3(CEP41):c.*1646G>A
|
rs187513408
|
0.00059
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00058
|
NM_173500.4(TTBK2):c.*744G>A
|
rs769283772
|
0.00058
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00058
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00057
|
NM_001195248.2(APTX):c.134-12A>C
|
rs113391831
|
0.00057
|
NM_001378615.1(CC2D2A):c.*45G>C
|
rs372449768
|
0.00057
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs)
|
rs777199366
|
0.00056
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
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_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
NM_006946.4(SPTBN2):c.-22-10C>A
|
rs200435327
|
0.00054
|
NM_014363.6(SACS):c.2186-4A>G
|
rs371866995
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)
|
rs200769097
|
0.00053
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)
|
rs115773578
|
0.00053
|
NM_004115.4(FGF14):c.*553C>T
|
rs150580343
|
0.00053
|
NM_144992.5(VWA3B):c.544G>A (p.Val182Ile)
|
rs367870902
|
0.00053
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)
|
rs148078248
|
0.00052
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
|
rs146798796
|
0.00051
|
NM_001044385.3(TMEM237):c.*1655G>A
|
rs1020619947
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
|
rs151046729
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_018319.4(TDP1):c.*945C>T
|
rs540904390
|
0.00051
|
NM_024411.5(PDYN):c.*103C>T
|
rs555671052
|
0.00051
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)
|
rs138481762
|
0.00051
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly)
|
rs201366911
|
0.00050
|
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)
|
rs376795880
|
0.00049
|
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)
|
rs146045390
|
0.00049
|
NM_024411.5(PDYN):c.*231C>G
|
rs565210312
|
0.00049
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_182961.4(SYNE1):c.*191A>G
|
rs567194577
|
0.00049
|
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln)
|
rs141550859
|
0.00049
|
NM_182961.4(SYNE1):c.4461+15C>T
|
rs757969745
|
0.00049
|
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val)
|
rs61745095
|
0.00048
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
NM_006796.3(AFG3L2):c.*221A>G
|
rs886053613
|
0.00048
|
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr)
|
rs201876836
|
0.00048
|
NM_015272.5(RPGRIP1L):c.-62C>T
|
rs562413151
|
0.00048
|
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)
|
rs199619932
|
0.00048
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_018718.3(CEP41):c.*1981G>A
|
rs538682192
|
0.00047
|
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn)
|
rs199636231
|
0.00046
|
NM_002739.5(PRKCG):c.*622C>G
|
rs1032868211
|
0.00046
|
NM_015046.7(SETX):c.*1803G>A
|
rs556145432
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_021830.5(TWNK):c.*709C>G
|
rs41291470
|
0.00046
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00046
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00046
|
NM_001044385.3(TMEM237):c.*2960C>A
|
rs188637429
|
0.00045
|
NM_016169.4(SUFU):c.*2729T>C
|
rs574630127
|
0.00045
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_025114.3(CEP290):c.-235T>G
|
rs569632834
|
0.00045
|
NM_174936.4(PCSK9):c.*1151del
|
rs563024336
|
0.00045
|
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)
|
rs139643725
|
0.00045
|
NM_001378452.1(ITPR1):c.*942G>T
|
rs41308218
|
0.00044
|
NM_001386140.1(MTTP):c.502-12C>T
|
rs200628118
|
0.00044
|
NM_003383.5(VLDLR):c.-122T>C
|
rs886063802
|
0.00044
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile)
|
rs142270656
|
0.00043
|
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr)
|
rs200203979
|
0.00043
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001378615.1(CC2D2A):c.*1T>A
|
rs199945435
|
0.00042
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
NM_018718.3(CEP41):c.*3097T>C
|
rs929238589
|
0.00042
|
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)
|
rs150550013
|
0.00042
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
NM_001044385.3(TMEM237):c.*2141C>T
|
rs147652455
|
0.00041
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
|
rs551740936
|
0.00041
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
NM_015046.7(SETX):c.*1454C>G
|
rs561712582
|
0.00041
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)
|
rs145850728
|
0.00041
|
NM_020247.5(COQ8A):c.1399-13G>A
|
rs73087649
|
0.00041
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)
|
rs142117628
|
0.00041
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)
|
rs150710403
|
0.00040
|
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)
|
rs145724674
|
0.00040
|
NM_014053.4(FLVCR1):c.*1954A>G
|
rs567288372
|
0.00040
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_018718.3(CEP41):c.*1385T>G
|
rs781845516
|
0.00040
|
NM_021830.5(TWNK):c.*453G>A
|
rs769950933
|
0.00040
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
NM_001044385.3(TMEM237):c.*3517A>G
|
rs563749617
|
0.00039
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)
|
rs200127338
|
0.00039
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
NM_001386140.1(MTTP):c.394-7C>T
|
rs368989581
|
0.00039
|
NM_014363.6(SACS):c.*569G>A
|
rs554938605
|
0.00039
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_015272.5(RPGRIP1L):c.*270G>A
|
rs549065732
|
0.00039
|
NM_017791.3(FLVCR2):c.*1070T>C
|
rs533763314
|
0.00039
|
NM_017791.3(FLVCR2):c.*1071G>T
|
rs553617789
|
0.00039
|
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly)
|
rs201355368
|
0.00039
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile)
|
rs151156420
|
0.00039
|
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe)
|
rs367855115
|
0.00038
|
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu)
|
rs200535417
|
0.00038
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)
|
rs79399971
|
0.00038
|
NM_173500.4(TTBK2):c.-279C>A
|
rs866690514
|
0.00038
|
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys)
|
rs139139296
|
0.00038
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)
|
rs188583221
|
0.00037
|
NM_014363.6(SACS):c.*942A>G
|
rs886050068
|
0.00037
|
NM_015272.5(RPGRIP1L):c.*532T>C
|
rs184520009
|
0.00037
|
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)
|
rs568253718
|
0.00036
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu)
|
rs369060106
|
0.00036
|
NM_002222.6(ITPR1):c.*1347G>T
|
rs547675218
|
0.00036
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser)
|
rs201606637
|
0.00036
|
NM_016373.4(WWOX):c.998G>A (p.Arg333His)
|
rs184773837
|
0.00036
|
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln)
|
rs202017613
|
0.00036
|
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln)
|
rs200963031
|
0.00036
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
NM_182961.4(SYNE1):c.309+14A>G
|
rs368595280
|
0.00036
|
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)
|
rs144201778
|
0.00036
|
NM_000370.3(TTPA):c.*806C>T
|
rs752352118
|
0.00035
|
NM_002739.5(PRKCG):c.*550C>T
|
rs778703745
|
0.00035
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_018319.4(TDP1):c.*950C>T
|
rs577840358
|
0.00035
|
NM_173500.4(TTBK2):c.-130G>C
|
rs886051164
|
0.00035
|
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)
|
rs148731167
|
0.00035
|
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His)
|
rs143049227
|
0.00035
|
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser)
|
rs148242740
|
0.00035
|
NM_000370.3(TTPA):c.*161A>G
|
rs183885151
|
0.00034
|
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)
|
rs149529997
|
0.00034
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00034
|
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)
|
rs199996939
|
0.00034
|
NM_006946.4(SPTBN2):c.*121A>G
|
rs554283435
|
0.00034
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=)
|
rs139570869
|
0.00034
|
NM_033064.5(ATCAY):c.*3404C>T
|
rs540478786
|
0.00034
|
NM_182961.4(SYNE1):c.*433A>G
|
rs886061189
|
0.00034
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys)
|
rs142258643
|
0.00034
|
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)
|
rs144206837
|
0.00034
|
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00034
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_001378615.1(CC2D2A):c.3399-15T>C
|
rs181612746
|
0.00033
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_016169.4(SUFU):c.*2956C>T
|
rs562546771
|
0.00033
|
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln)
|
rs144746398
|
0.00033
|
NM_018718.3(CEP41):c.*4599A>G
|
rs753024852
|
0.00033
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_001044385.3(TMEM237):c.*1008A>G
|
rs777244164
|
0.00032
|
NM_001195248.2(APTX):c.*834C>G
|
rs770908697
|
0.00032
|
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His)
|
rs200446131
|
0.00032
|
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)
|
rs373973399
|
0.00032
|
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu)
|
rs145545828
|
0.00032
|
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)
|
rs149834738
|
0.00032
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val)
|
rs200815431
|
0.00032
|
NM_016464.5(TMEM138):c.-157C>G
|
rs779029696
|
0.00032
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00031
|
NM_001195248.2(APTX):c.*858C>G
|
rs772290850
|
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_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)
|
rs148018494
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_182961.4(SYNE1):c.-49C>T
|
rs373654060
|
0.00031
|
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=)
|
rs367864272
|
0.00031
|
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys)
|
rs149918889
|
0.00031
|
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)
|
rs144643941
|
0.00031
|
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)
|
rs191682790
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_018718.3(CEP41):c.*805A>G
|
rs145808545
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile)
|
rs141049001
|
0.00030
|
NM_001134831.2(AHI1):c.*793A>G
|
rs191324834
|
0.00029
|
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val)
|
rs113040775
|
0.00029
|
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr)
|
rs200148591
|
0.00029
|
NM_001378452.1(ITPR1):c.*279A>G
|
rs886058645
|
0.00029
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_001386140.1(MTTP):c.-82C>T
|
rs767201629
|
0.00029
|
NM_003383.5(VLDLR):c.*16T>C
|
rs150475109
|
0.00029
|
NM_006946.4(SPTBN2):c.-56C>T
|
rs527588843
|
0.00029
|
NM_014363.6(SACS):c.*222T>C
|
rs577703833
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_018075.5(ANO10):c.*82G>A
|
rs560234921
|
0.00029
|
NM_018075.5(ANO10):c.-74C>T
|
rs886058482
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)
|
rs138277154
|
0.00029
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe)
|
rs139600654
|
0.00029
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)
|
rs147841761
|
0.00029
|
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)
|
rs375079396
|
0.00029
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)
|
rs764407421
|
0.00028
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_017791.3(FLVCR2):c.421G>A (p.Val141Met)
|
rs193042691
|
0.00028
|
NM_018075.5(ANO10):c.-67C>T
|
rs563565187
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_033064.5(ATCAY):c.*681A>G
|
rs772852314
|
0.00028
|
NM_152617.4(RNF168):c.596T>C (p.Leu199Ser)
|
rs147030576
|
0.00028
|
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu)
|
rs141996707
|
0.00028
|
NM_000391.4(TPP1):c.776G>A (p.Arg259His)
|
rs140176031
|
0.00027
|
NM_001044385.3(TMEM237):c.*987C>T
|
rs568084746
|
0.00027
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)
|
rs369476930
|
0.00027
|
NM_015046.7(SETX):c.*1688A>G
|
rs773351268
|
0.00027
|
NM_016169.4(SUFU):c.*1936C>T
|
rs118033896
|
0.00027
|
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp)
|
rs137985190
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)
|
rs201694328
|
0.00027
|
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)
|
rs201613668
|
0.00026
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_001382391.1(CSPP1):c.1497-3C>T
|
rs184342035
|
0.00026
|
NM_003383.5(VLDLR):c.*83C>T
|
rs755339168
|
0.00026
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe)
|
rs41296694
|
0.00026
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)
|
rs140028127
|
0.00026
|
NM_015272.5(RPGRIP1L):c.*851C>A
|
rs138437010
|
0.00026
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val)
|
rs147046186
|
0.00026
|
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys)
|
rs142806268
|
0.00026
|
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)
|
rs139133094
|
0.00026
|
NM_021830.5(TWNK):c.-592C>T
|
rs774214514
|
0.00026
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
NM_033064.5(ATCAY):c.*2668G>A
|
rs555029183
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His)
|
rs146769373
|
0.00026
|
NM_198994.3(TGM6):c.1171G>A (p.Val391Met)
|
rs116904482
|
0.00026
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)
|
rs367814655
|
0.00025
|
NM_001386140.1(MTTP):c.-84T>C
|
rs761717058
|
0.00025
|
NM_015046.7(SETX):c.*891T>C
|
rs573743210
|
0.00025
|
NM_015272.5(RPGRIP1L):c.*698T>C
|
rs545786772
|
0.00025
|
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly)
|
rs369959670
|
0.00025
|
NM_018718.3(CEP41):c.*4973C>T
|
rs760160179
|
0.00025
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
NM_020247.5(COQ8A):c.*612C>T
|
rs747804729
|
0.00025
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_182961.4(SYNE1):c.23791-13C>T
|
rs371245873
|
0.00025
|
NM_000370.3(TTPA):c.*326T>A
|
rs529634119
|
0.00024
|
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)
|
rs201034755
|
0.00024
|
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)
|
rs199776253
|
0.00024
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_001271696.3(ABCB7):c.*113A>G
|
rs916633787
|
0.00024
|
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys)
|
rs112817798
|
0.00024
|
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala)
|
rs896789657
|
0.00024
|
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val)
|
rs201898983
|
0.00024
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)
|
rs374554530
|
0.00024
|
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg)
|
rs370605967
|
0.00024
|
NM_003383.5(VLDLR):c.*48C>T
|
rs368949453
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys)
|
rs193001955
|
0.00024
|
NM_018718.3(CEP41):c.*2226G>A
|
rs115431091
|
0.00024
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln)
|
rs370037552
|
0.00024
|
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp)
|
rs373448317
|
0.00024
|
NM_033064.5(ATCAY):c.405G>A (p.Ala135=)
|
rs202077180
|
0.00024
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
NM_182961.4(SYNE1):c.12225+4G>A
|
rs770448083
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)
|
rs142229551
|
0.00024
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met)
|
rs143842011
|
0.00024
|
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)
|
rs201664645
|
0.00024
|
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu)
|
rs144276162
|
0.00024
|
NM_182961.4(SYNE1):c.6382-3C>T
|
rs373663183
|
0.00024
|
NM_000370.3(TTPA):c.*1365A>C
|
rs181348477
|
0.00023
|
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)
|
rs141982176
|
0.00023
|
NM_000384.3(APOB):c.5763A>G (p.Gly1921=)
|
rs141022509
|
0.00023
|
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala)
|
rs148429884
|
0.00023
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_014363.6(SACS):c.1884C>T (p.Pro628=)
|
rs144468379
|
0.00023
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)
|
rs141275966
|
0.00023
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00023
|
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)
|
rs150702500
|
0.00023
|
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)
|
rs139089832
|
0.00023
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00023
|
NM_000784.4(CYP27A1):c.*195G>C
|
rs886055632
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_003383.5(VLDLR):c.2104+5C>T
|
rs201953557
|
0.00022
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_015046.7(SETX):c.*2384T>A
|
rs570456500
|
0.00022
|
NM_015272.5(RPGRIP1L):c.*506T>G
|
rs778362441
|
0.00022
|
NM_018319.4(TDP1):c.*1355G>A
|
rs755484553
|
0.00022
|
NM_018319.4(TDP1):c.884+5G>A
|
rs370991229
|
0.00022
|
NM_018718.3(CEP41):c.*1341A>C
|
rs782742227
|
0.00022
|
NM_020247.5(COQ8A):c.*234G>A
|
rs188462608
|
0.00022
|
NM_024411.5(PDYN):c.691C>A (p.Arg231=)
|
rs201204862
|
0.00022
|
NM_025114.4(CEP290):c.3574-15T>A
|
rs565414938
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_033064.5(ATCAY):c.*212C>T
|
rs764132493
|
0.00022
|
NM_152703.5(SAMD9L):c.1549T>C (p.Trp517Arg)
|
rs199714577
|
0.00022
|
NM_174936.4(PCSK9):c.*950C>T
|
rs72646537
|
0.00022
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly)
|
rs189734757
|
0.00022
|
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg)
|
rs200467447
|
0.00021
|
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)
|
rs370059449
|
0.00021
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
NM_001382391.1(CSPP1):c.3156+6C>T
|
rs375100195
|
0.00021
|
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg)
|
rs201797415
|
0.00021
|
NM_001386140.1(MTTP):c.*989T>C
|
rs183510498
|
0.00021
|
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)
|
rs142885301
|
0.00021
|
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)
|
rs376219874
|
0.00021
|
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)
|
rs144303334
|
0.00021
|
NM_015046.7(SETX):c.*988G>A
|
rs182693244
|
0.00021
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
NM_016169.4(SUFU):c.*1997A>G
|
rs757368847
|
0.00021
|
NM_016169.4(SUFU):c.6G>T (p.Ala2=)
|
rs746555296
|
0.00021
|
NM_016464.5(TMEM138):c.-169C>T
|
rs553390222
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr)
|
rs200021943
|
0.00021
|
NM_182961.4(SYNE1):c.*101C>T
|
rs571719631
|
0.00021
|
NM_182961.4(SYNE1):c.*186G>A
|
rs766338162
|
0.00021
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu)
|
rs139805184
|
0.00021
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)
|
rs200701182
|
0.00021
|
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile)
|
rs150335599
|
0.00021
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val)
|
rs139544072
|
0.00021
|
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile)
|
rs374862218
|
0.00021
|
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)
|
rs372194079
|
0.00020
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly)
|
rs780969097
|
0.00020
|
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile)
|
rs753810786
|
0.00020
|
NM_014053.4(FLVCR1):c.*2189G>A
|
rs183774878
|
0.00020
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
NM_018075.5(ANO10):c.473-6G>A
|
rs184416837
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
NM_182961.4(SYNE1):c.22346+6G>T
|
rs368678916
|
0.00020
|
NM_000370.3(TTPA):c.*364A>T
|
rs559345463
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser)
|
rs377325998
|
0.00019
|
NM_001329943.3(KIAA0586):c.411-1363G>C
|
rs570489575
|
0.00019
|
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys)
|
rs199901120
|
0.00019
|
NM_001386140.1(MTTP):c.799T>C (p.Leu267=)
|
rs7672497
|
0.00019
|
NM_006796.3(AFG3L2):c.*484A>G
|
rs565352114
|
0.00019
|
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)
|
rs140290151
|
0.00019
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
NM_015046.7(SETX):c.*2065dup
|
rs886063546
|
0.00019
|
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)
|
rs200507089
|
0.00019
|
NM_017791.3(FLVCR2):c.*155C>T
|
rs562468033
|
0.00019
|
NM_018075.5(ANO10):c.1864A>G (p.Met622Val)
|
rs141806947
|
0.00019
|
NM_018718.3(CEP41):c.*2781A>G
|
rs782043938
|
0.00019
|
NM_018718.3(CEP41):c.*4391G>A
|
rs782450438
|
0.00019
|
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
|
rs148651377
|
0.00019
|
NM_025114.4(CEP290):c.-147A>T
|
rs753567406
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_033064.5(ATCAY):c.478G>A (p.Gly160Arg)
|
rs374611192
|
0.00019
|
NM_173500.4(TTBK2):c.*967G>A
|
rs569220743
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_182961.4(SYNE1):c.10003A>G (p.Ile3335Val)
|
rs150814357
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)
|
rs143034104
|
0.00019
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met)
|
rs770171807
|
0.00019
|
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr)
|
rs149744490
|
0.00019
|
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)
|
rs370016934
|
0.00019
|
NM_182961.4(SYNE1):c.7238-11T>C
|
rs200802315
|
0.00019
|
NM_000370.3(TTPA):c.204+6C>T
|
rs574780098
|
0.00018
|
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr)
|
rs374606907
|
0.00018
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)
|
rs151120697
|
0.00018
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln)
|
rs376338487
|
0.00018
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
0.00018
|
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu)
|
rs376549634
|
0.00018
|
NM_003383.5(VLDLR):c.582C>T (p.Gly194=)
|
rs148012674
|
0.00018
|
NM_017791.3(FLVCR2):c.286A>G (p.Met96Val)
|
rs199805789
|
0.00018
|
NM_018319.4(TDP1):c.*1203G>T
|
rs531417402
|
0.00018
|
NM_018319.4(TDP1):c.*228T>G
|
rs954549405
|
0.00018
|
NM_022464.5(SIL1):c.310C>G (p.Leu104Val)
|
rs150892227
|
0.00018
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_033064.5(ATCAY):c.*2289C>T
|
rs1025056968
|
0.00018
|
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val)
|
rs138350962
|
0.00018
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)
|
rs201029723
|
0.00018
|
NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val)
|
rs143467834
|
0.00018
|
NM_000370.3(TTPA):c.*554C>T
|
rs576595274
|
0.00017
|
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)
|
rs151333262
|
0.00017
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)
|
rs201412708
|
0.00017
|
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)
|
rs35948251
|
0.00017
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
|
rs375968367
|
0.00017
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00017
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
NM_015046.7(SETX):c.-123C>A
|
rs184570956
|
0.00017
|
NM_018075.5(ANO10):c.236T>G (p.Met79Arg)
|
rs201275096
|
0.00017
|
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys)
|
rs141387488
|
0.00017
|
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr)
|
rs148927677
|
0.00017
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu)
|
rs187146687
|
0.00017
|
NM_182961.4(SYNE1):c.1463+9A>G
|
rs368846118
|
0.00017
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr)
|
rs201497427
|
0.00017
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
NM_000370.3(TTPA):c.*735T>C
|
rs886063064
|
0.00016
|
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.1343G>A (p.Arg448His)
|
rs370868184
|
0.00016
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
NM_001044385.3(TMEM237):c.*3123T>A
|
rs866645983
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001134831.2(AHI1):c.-214C>T
|
rs183265971
|
0.00016
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg)
|
rs373014753
|
0.00016
|
NM_001329943.3(KIAA0586):c.411-1369A>G
|
rs1044844835
|
0.00016
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)
|
rs35027371
|
0.00016
|
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser)
|
rs377385599
|
0.00016
|
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala)
|
rs374262758
|
0.00016
|
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln)
|
rs746518411
|
0.00016
|
NM_006796.2(AFG3L2):c.-179C>T
|
rs576218520
|
0.00016
|
NM_013236.4(ATXN10):c.404G>T (p.Gly135Val)
|
rs199766375
|
0.00016
|
NM_014363.6(SACS):c.*394G>A
|
rs956360764
|
0.00016
|
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)
|
rs139692779
|
0.00016
|
NM_014363.6(SACS):c.13272C>T (p.Ala4424=)
|
rs567495567
|
0.00016
|
NM_014363.6(SACS):c.1444C>G (p.Leu482Val)
|
rs141487769
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln)
|
rs138288107
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp)
|
rs144234059
|
0.00016
|
NM_016373.4(WWOX):c.301C>G (p.Pro101Ala)
|
rs574637594
|
0.00016
|
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)
|
rs117209694
|
0.00016
|
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp)
|
rs371560228
|
0.00016
|
NM_017791.3(FLVCR2):c.*1633A>C
|
rs552943781
|
0.00016
|
NM_017791.3(FLVCR2):c.953-15C>T
|
rs188707531
|
0.00016
|
NM_018319.4(TDP1):c.885-15T>C
|
rs375601290
|
0.00016
|
NM_018718.3(CEP41):c.*2786A>C
|
rs782016580
|
0.00016
|
NM_018718.3(CEP41):c.*705G>A
|
rs782543502
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg)
|
rs374754187
|
0.00016
|
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro)
|
rs142987777
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu)
|
rs201827208
|
0.00016
|
NM_033064.5(ATCAY):c.*1154G>A
|
rs528605076
|
0.00016
|
NM_033064.5(ATCAY):c.*728T>C
|
rs371256803
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_182961.4(SYNE1):c.12351+4A>C
|
rs375086691
|
0.00016
|
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp)
|
rs375097544
|
0.00016
|
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val)
|
rs541395341
|
0.00016
|
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys)
|
rs536892317
|
0.00016
|
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)
|
rs139679692
|
0.00016
|
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His)
|
rs558046278
|
0.00016
|
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu)
|
rs369236839
|
0.00016
|
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala)
|
rs146965313
|
0.00016
|
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile)
|
rs377531174
|
0.00016
|
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)
|
rs151300068
|
0.00016
|
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val)
|
rs146402274
|
0.00016
|
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys)
|
rs778371330
|
0.00015
|
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)
|
rs866563020
|
0.00015
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
0.00015
|
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro)
|
rs149405514
|
0.00015
|
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val)
|
rs750969059
|
0.00015
|
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_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)
|
rs371608031
|
0.00015
|
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val)
|
rs375985758
|
0.00015
|
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile)
|
rs1467372840
|
0.00015
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
NM_006796.3(AFG3L2):c.*326G>A
|
rs180917336
|
0.00015
|
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)
|
rs200991790
|
0.00015
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
NM_021830.5(TWNK):c.-418C>T
|
rs750659283
|
0.00015
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
|
rs370004832
|
0.00015
|
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)
|
rs199774691
|
0.00015
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys)
|
rs201346604
|
0.00015
|
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)
|
rs140962690
|
0.00015
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
NM_001009894.3(RLIG1):c.*594T>C
|
rs376016171
|
0.00014
|
NM_001134831.2(AHI1):c.189+12T>C
|
rs199617785
|
0.00014
|
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu)
|
rs187783779
|
0.00014
|
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser)
|
rs753633031
|
0.00014
|
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg)
|
rs200627657
|
0.00014
|
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)
|
rs201929144
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)
|
rs369681244
|
0.00014
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_001382391.1(CSPP1):c.-101A>G
|
rs200250731
|
0.00014
|
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn)
|
rs201417325
|
0.00014
|
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys)
|
rs199521775
|
0.00014
|
NM_001386140.1(MTTP):c.*436A>G
|
rs1450371659
|
0.00014
|
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)
|
rs143513754
|
0.00014
|
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)
|
rs202080366
|
0.00014
|
NM_014053.4(FLVCR1):c.*2409C>T
|
rs1015419064
|
0.00014
|
NM_014053.4(FLVCR1):c.*3260T>C
|
rs183392554
|
0.00014
|
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
NM_015272.5(RPGRIP1L):c.*332T>G
|
rs544840421
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)
|
rs141201084
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)
|
rs111459222
|
0.00014
|
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile)
|
rs141838831
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_016169.4(SUFU):c.*721T>G
|
rs2298279
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys)
|
rs201228765
|
0.00014
|
NM_016373.4(WWOX):c.946G>C (p.Val316Leu)
|
rs201941494
|
0.00014
|
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser)
|
rs374795191
|
0.00014
|
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)
|
rs140058160
|
0.00014
|
NM_018718.3(CEP41):c.*1328T>A
|
rs782132652
|
0.00014
|
NM_018718.3(CEP41):c.*4714T>C
|
rs782085608
|
0.00014
|
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys)
|
rs760308715
|
0.00014
|
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)
|
rs147097934
|
0.00014
|
NM_020247.5(COQ8A):c.1572+7G>A
|
rs371874740
|
0.00014
|
NM_021830.5(TWNK):c.*341G>A
|
rs1007423847
|
0.00014
|
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
|
rs774710219
|
0.00014
|
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00014
|
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)
|
rs374301933
|
0.00014
|
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys)
|
rs35484093
|
0.00014
|
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser)
|
rs375686353
|
0.00014
|
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg)
|
rs532911105
|
0.00014
|
NM_182961.4(SYNE1):c.16573-3C>T
|
rs376927135
|
0.00014
|
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser)
|
rs145518327
|
0.00014
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys)
|
rs34974663
|
0.00014
|
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn)
|
rs772627014
|
0.00014
|
NM_182961.4(SYNE1):c.7029+15A>G
|
rs757201043
|
0.00014
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
NM_198994.3(TGM6):c.632G>A (p.Arg211His)
|
rs192045738
|
0.00014
|
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=)
|
rs121434349
|
0.00013
|
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)
|
rs375425462
|
0.00013
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser)
|
rs776790149
|
0.00013
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367
|
0.00013
|
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs)
|
rs748602759
|
0.00013
|
NM_004115.4(FGF14):c.*1772C>A
|
rs761322568
|
0.00013
|
NM_014053.4(FLVCR1):c.*569C>G
|
rs185115842
|
0.00013
|
NM_014053.4(FLVCR1):c.*657A>G
|
rs758210046
|
0.00013
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)
|
rs370366576
|
0.00013
|
NM_016373.4(WWOX):c.1078G>A (p.Val360Met)
|
rs200019508
|
0.00013
|
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val)
|
rs202061089
|
0.00013
|
NM_020247.5(COQ8A):c.-75C>T
|
rs886046064
|
0.00013
|
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)
|
rs141423403
|
0.00013
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270
|
0.00013
|
NM_024411.5(PDYN):c.*346G>A
|
rs780894307
|
0.00013
|
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile)
|
rs374199052
|
0.00013
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_033064.5(ATCAY):c.*929G>A
|
rs1007947890
|
0.00013
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00013
|
NM_173500.4(TTBK2):c.*536T>C
|
rs902865683
|
0.00013
|
NM_182961.4(SYNE1):c.18816C>T (p.Gly6272=)
|
rs142296702
|
0.00013
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)
|
rs376463379
|
0.00013
|
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp)
|
rs144797998
|
0.00013
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His)
|
rs139175290
|
0.00013
|
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
NM_000370.3(TTPA):c.*1422T>G
|
rs913423928
|
0.00012
|
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln)
|
rs141163645
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001044385.3(TMEM237):c.*1151C>T
|
rs188943302
|
0.00012
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)
|
rs373951297
|
0.00012
|
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val)
|
rs375643798
|
0.00012
|
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser)
|
rs370560098
|
0.00012
|
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser)
|
rs199563573
|
0.00012
|
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=)
|
rs199688524
|
0.00012
|
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg)
|
rs373927950
|
0.00012
|
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr)
|
rs183359461
|
0.00012
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs201714373
|
0.00012
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs151120244
|
0.00012
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00012
|
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)
|
rs377027736
|
0.00012
|
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)
|
rs550068559
|
0.00012
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
NM_015046.7(SETX):c.*2016G>A
|
rs752950104
|
0.00012
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys)
|
rs375995525
|
0.00012
|
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp)
|
rs374541202
|
0.00012
|
NM_020247.5(COQ8A):c.-113A>G
|
rs886046063
|
0.00012
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_025114.4(CEP290):c.904A>G (p.Ile302Val)
|
rs764495570
|
0.00012
|
NM_033064.5(ATCAY):c.*2311G>A
|
rs186330129
|
0.00012
|
NM_033064.5(ATCAY):c.717G>A (p.Thr239=)
|
rs768556456
|
0.00012
|
NM_182961.4(SYNE1):c.-347C>A
|
rs570030870
|
0.00012
|
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)
|
rs180727534
|
0.00012
|
NM_182961.4(SYNE1):c.13628A>G (p.Tyr4543Cys)
|
rs138770612
|
0.00012
|
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)
|
rs773536890
|
0.00012
|
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp)
|
rs150290283
|
0.00012
|
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)
|
rs377113267
|
0.00012
|
NM_182961.4(SYNE1):c.4008+15T>C
|
rs368542446
|
0.00012
|
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu)
|
rs555536675
|
0.00012
|
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met)
|
rs763526846
|
0.00012
|
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=)
|
rs200222988
|
0.00012
|
NM_000384.3(APOB):c.11466G>A (p.Val3822=)
|
rs755842633
|
0.00011
|
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp)
|
rs369294392
|
0.00011
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn)
|
rs143081480
|
0.00011
|
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)
|
rs202140413
|
0.00011
|
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)
|
rs553366477
|
0.00011
|
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser)
|
rs376681702
|
0.00011
|
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val)
|
rs200735064
|
0.00011
|
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile)
|
rs201393625
|
0.00011
|
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)
|
rs368886216
|
0.00011
|
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)
|
rs144120746
|
0.00011
|
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala)
|
rs371720718
|
0.00011
|
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter)
|
rs200346372
|
0.00011
|
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu)
|
rs368550470
|
0.00011
|
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln)
|
rs371211802
|
0.00011
|
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met)
|
rs754693915
|
0.00011
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484
|
0.00011
|
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)
|
rs558572111
|
0.00011
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00011
|
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln)
|
rs758146224
|
0.00011
|
NM_015272.5(RPGRIP1L):c.*588A>G
|
rs894081042
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00011
|
NM_016169.4(SUFU):c.*1451C>T
|
rs886046659
|
0.00011
|
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)
|
rs1265012285
|
0.00011
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)
|
rs200847456
|
0.00011
|
NM_016464.5(TMEM138):c.-23G>A
|
rs192056545
|
0.00011
|
NM_016464.5(TMEM138):c.-55G>A
|
rs555405590
|
0.00011
|
NM_016464.5(TMEM138):c.-71G>A
|
rs199532763
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
NM_018075.5(ANO10):c.*372G>T
|
rs145489333
|
0.00011
|
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr)
|
rs191413952
|
0.00011
|
NM_018319.4(TDP1):c.*1015G>A
|
rs374734859
|
0.00011
|
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp)
|
rs141725364
|
0.00011
|
NM_018718.3(CEP41):c.*1773A>G
|
rs782011799
|
0.00011
|
NM_018718.3(CEP41):c.*859G>A
|
rs781930185
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_020247.5(COQ8A):c.*110G>C
|
rs1046215592
|
0.00011
|
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=)
|
rs201865243
|
0.00011
|
NM_020247.5(COQ8A):c.525C>T (p.Ala175=)
|
rs201787750
|
0.00011
|
NM_022464.5(SIL1):c.103C>G (p.Leu35Val)
|
rs759591537
|
0.00011
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)
|
rs36104367
|
0.00011
|
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser)
|
rs148212715
|
0.00011
|
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)
|
rs375577011
|
0.00011
|
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe)
|
rs199701902
|
0.00011
|
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=)
|
rs184264920
|
0.00011
|
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro)
|
rs370472085
|
0.00011
|
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)
|
rs141934037
|
0.00011
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
0.00011
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
0.00011
|
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)
|
rs145882956
|
0.00011
|
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)
|
rs371642308
|
0.00011
|
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)
|
rs199558070
|
0.00011
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00011
|
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn)
|
rs147281213
|
0.00011
|
NM_000370.3(TTPA):c.*1368C>G
|
rs553853197
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001044385.3(TMEM237):c.*1148A>G
|
rs558665286
|
0.00010
|
NM_001044385.3(TMEM237):c.*1762G>A
|
rs886055441
|
0.00010
|
NM_001044385.3(TMEM237):c.*2465A>G
|
rs527921749
|
0.00010
|
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
|
rs576982977
|
0.00010
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
NM_001080453.3(INTS1):c.3679G>C (p.Glu1227Gln)
|
rs758158889
|
0.00010
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00010
|
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn)
|
rs142562681
|
0.00010
|
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)
|
rs372030704
|
0.00010
|
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser)
|
rs200094677
|
0.00010
|
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala)
|
rs753972803
|
0.00010
|
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn)
|
rs372215354
|
0.00010
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
0.00010
|
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His)
|
rs375083236
|
0.00010
|
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu)
|
rs372716023
|
0.00010
|
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser)
|
rs201720914
|
0.00010
|
NM_002739.5(PRKCG):c.234C>T (p.His78=)
|
rs143456958
|
0.00010
|
NM_003383.5(VLDLR):c.*460G>A
|
rs550310153
|
0.00010
|
NM_003383.5(VLDLR):c.*63C>T
|
rs17848373
|
0.00010
|
NM_003383.5(VLDLR):c.-392C>T
|
rs867729388
|
0.00010
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs200322331
|
0.00010
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768
|
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_007254.4(PNKP):c.1298+6G>A
|
rs578207030
|
0.00010
|
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)
|
rs761117623
|
0.00010
|
NM_014053.4(FLVCR1):c.*2218C>T
|
rs886045939
|
0.00010
|
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro)
|
rs549957998
|
0.00010
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
|
rs147517201
|
0.00010
|
NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg)
|
rs150829393
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)
|
rs767453182
|
0.00010
|
NM_015272.5(RPGRIP1L):c.*1207G>A
|
rs561880798
|
0.00010
|
NM_016169.4(SUFU):c.*2195G>T
|
rs781227748
|
0.00010
|
NM_016373.4(WWOX):c.568G>A (p.Val190Met)
|
rs769400934
|
0.00010
|
NM_016464.5(TMEM138):c.*92G>C
|
rs372997712
|
0.00010
|
NM_017791.3(FLVCR2):c.*675A>G
|
rs1025714059
|
0.00010
|
NM_018075.5(ANO10):c.*452A>G
|
rs886058476
|
0.00010
|
NM_018319.4(TDP1):c.*801G>A
|
rs1017363264
|
0.00010
|
NM_018319.4(TDP1):c.19T>C (p.Tyr7His)
|
rs754747710
|
0.00010
|
NM_018718.3(CEP41):c.145+6del
|
rs782483563
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
|
rs782137799
|
0.00010
|
NM_022464.5(SIL1):c.724G>A (p.Val242Met)
|
rs545999438
|
0.00010
|
NM_023077.3(COA7):c.113A>G (p.Tyr38Cys)
|
rs753445023
|
0.00010
|
NM_024411.5(PDYN):c.-162A>G
|
rs886056537
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_033064.5(ATCAY):c.*1535G>A
|
rs886054422
|
0.00010
|
NM_173500.4(TTBK2):c.-68+15C>G
|
rs886051163
|
0.00010
|
NM_182961.4(SYNE1):c.-223-10T>C
|
rs564226533
|
0.00010
|
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
|
rs546645393
|
0.00010
|
NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His)
|
rs142444474
|
0.00010
|
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=)
|
rs138307449
|
0.00010
|
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu)
|
rs375977864
|
0.00010
|
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys)
|
rs144244988
|
0.00010
|
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly)
|
rs755740366
|
0.00010
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
|
rs757688642
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr)
|
rs376169744
|
0.00010
|
NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met)
|
rs748509032
|
0.00010
|
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp)
|
rs200346529
|
0.00010
|
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met)
|
rs139798419
|
0.00010
|
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys)
|
rs750573381
|
0.00010
|
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=)
|
rs184006845
|
0.00010
|
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg)
|
rs375595045
|
0.00010
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)
|
rs373477107
|
0.00009
|
NM_001044385.3(TMEM237):c.*492T>C
|
rs530304720
|
0.00009
|
NM_001044385.3(TMEM237):c.-61G>A
|
rs571550977
|
0.00009
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
|
rs375077045
|
0.00009
|
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=)
|
rs758878104
|
0.00009
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)
|
rs377676279
|
0.00009
|
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)
|
rs1033790263
|
0.00009
|
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)
|
rs201771478
|
0.00009
|
NM_001134831.2(AHI1):c.3588+1G>A
|
rs533296867
|
0.00009
|
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)
|
rs368077581
|
0.00009
|
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr)
|
rs371424977
|
0.00009
|
NM_001329943.3(KIAA0586):c.411-1359T>G
|
rs1051790402
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_001378452.1(ITPR1):c.*580T>G
|
rs1266500433
|
0.00009
|
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His)
|
rs373906628
|
0.00009
|
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg)
|
rs375167917
|
0.00009
|
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)
|
rs200904521
|
0.00009
|
NM_001378615.1(CC2D2A):c.4314+12C>T
|
rs775304664
|
0.00009
|
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser)
|
rs371681100
|
0.00009
|
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser)
|
rs201884732
|
0.00009
|
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln)
|
rs763390190
|
0.00009
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
0.00009
|
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)
|
rs199595486
|
0.00009
|
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)
|
rs565257577
|
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.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
NM_006946.4(SPTBN2):c.6940-11T>C
|
rs551276248
|
0.00009
|
NM_014053.4(FLVCR1):c.*2480T>G
|
rs886045941
|
0.00009
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser)
|
rs754357821
|
0.00009
|
NM_015272.5(RPGRIP1L):c.*1883C>G
|
rs886052086
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val)
|
rs140876280
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn)
|
rs769686672
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)
|
rs149781516
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln)
|
rs560144848
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)
|
rs367845452
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg)
|
rs146589155
|
0.00009
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
NM_016373.4(WWOX):c.19G>A (p.Ala7Thr)
|
rs371392600
|
0.00009
|
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln)
|
rs199625891
|
0.00009
|
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
|
rs193027041
|
0.00009
|
NM_016373.4(WWOX):c.482C>T (p.Ala161Val)
|
rs369055872
|
0.00009
|
NM_016464.5(TMEM138):c.128+3G>T
|
rs754691659
|
0.00009
|
NM_017791.3(FLVCR2):c.*510A>G
|
rs182904017
|
0.00009
|
NM_018075.5(ANO10):c.*418T>C
|
rs1009967018
|
0.00009
|
NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn)
|
rs187425614
|
0.00009
|
NM_018075.5(ANO10):c.799A>G (p.Asn267Asp)
|
rs143322256
|
0.00009
|
NM_018319.4(TDP1):c.*776T>C
|
rs761481355
|
0.00009
|
NM_018319.4(TDP1):c.15C>T (p.Gly5=)
|
rs779666160
|
0.00009
|
NM_018718.3(CEP41):c.*1644A>G
|
rs533265295
|
0.00009
|
NM_018718.3(CEP41):c.*2111A>G
|
rs180725211
|
0.00009
|
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
|
rs201834429
|
0.00009
|
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro)
|
rs527612343
|
0.00009
|
NM_021830.5(TWNK):c.-470G>A
|
rs886046626
|
0.00009
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro)
|
rs185697854
|
0.00009
|
NM_024411.4(PDYN):c.-241G>C
|
rs574928545
|
0.00009
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_033064.5(ATCAY):c.*1632T>C
|
rs546859649
|
0.00009
|
NM_033064.5(ATCAY):c.*2742C>T
|
rs769121113
|
0.00009
|
NM_033064.5(ATCAY):c.*740G>A
|
rs569661909
|
0.00009
|
NM_033064.5(ATCAY):c.359-14C>T
|
rs753594529
|
0.00009
|
NM_182961.4(SYNE1):c.-305G>T
|
rs949603195
|
0.00009
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln)
|
rs763557674
|
0.00009
|
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr)
|
rs745978878
|
0.00009
|
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp)
|
rs767636254
|
0.00009
|
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr)
|
rs150761564
|
0.00009
|
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val)
|
rs143916942
|
0.00009
|
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val)
|
rs140850000
|
0.00009
|
NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile)
|
rs771840766
|
0.00009
|
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)
|
rs199962439
|
0.00009
|
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)
|
rs752135269
|
0.00009
|
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met)
|
rs767144952
|
0.00009
|
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile)
|
rs757079165
|
0.00009
|
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
|
rs759825628
|
0.00009
|
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)
|
rs150700669
|
0.00009
|
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu)
|
rs138707300
|
0.00009
|
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met)
|
rs145185413
|
0.00009
|
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)
|
rs367790193
|
0.00009
|
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)
|
rs150063353
|
0.00009
|
NM_182961.4(SYNE1):c.21195+12A>G
|
rs200930593
|
0.00009
|
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser)
|
rs150723622
|
0.00009
|
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)
|
rs145494541
|
0.00009
|
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala)
|
rs746347703
|
0.00009
|
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=)
|
rs201537074
|
0.00009
|
NM_182961.4(SYNE1):c.24977-1718G>A
|
rs370143116
|
0.00009
|
NM_182961.4(SYNE1):c.24977-5C>T
|
rs767722883
|
0.00009
|
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met)
|
rs147814237
|
0.00009
|
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln)
|
rs575386895
|
0.00009
|
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile)
|
rs148785548
|
0.00009
|
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)
|
rs140986546
|
0.00009
|
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr)
|
rs398123005
|
0.00009
|
NM_198994.3(TGM6):c.990-6T>C
|
rs370391681
|
0.00009
|
NM_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000384.3(APOB):c.2160C>T (p.Tyr720=)
|
rs756184175
|
0.00008
|
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)
|
rs200623857
|
0.00008
|
NM_000384.3(APOB):c.6656G>A (p.Arg2219His)
|
rs200106845
|
0.00008
|
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)
|
rs143002163
|
0.00008
|
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met)
|
rs776992864
|
0.00008
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val)
|
rs181400417
|
0.00008
|
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile)
|
rs372259984
|
0.00008
|
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly)
|
rs376113173
|
0.00008
|
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile)
|
rs369067010
|
0.00008
|
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val)
|
rs200405048
|
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_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)
|
rs375243763
|
0.00008
|
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys)
|
rs770075138
|
0.00008
|
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)
|
rs367949127
|
0.00008
|
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)
|
rs756423026
|
0.00008
|
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr)
|
rs146513720
|
0.00008
|
NM_003383.5(VLDLR):c.639C>T (p.Asp213=)
|
rs779155452
|
0.00008
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
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_014363.6(SACS):c.1026A>T (p.Lys342Asn)
|
rs190623423
|
0.00008
|
NM_014363.6(SACS):c.10482A>G (p.Leu3494=)
|
rs149643158
|
0.00008
|
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
|
rs142926244
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_015046.7(SETX):c.1221A>G (p.Thr407=)
|
rs377618570
|
0.00008
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile)
|
rs892392514
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_016169.4(SUFU):c.*907C>G
|
rs886046655
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_016373.4(WWOX):c.635C>T (p.Ala212Val)
|
rs202006159
|
0.00008
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
NM_018319.4(TDP1):c.-8+15T>C
|
rs767166629
|
0.00008
|
NM_018718.3(CEP41):c.*3965A>G
|
rs781992723
|
0.00008
|
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu)
|
rs747028553
|
0.00008
|
NM_020247.5(COQ8A):c.*570T>C
|
rs778729725
|
0.00008
|
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)
|
rs751144474
|
0.00008
|
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met)
|
rs372399027
|
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_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
NM_033064.5(ATCAY):c.*838G>A
|
rs1306758402
|
0.00008
|
NM_152703.5(SAMD9L):c.4508C>T (p.Thr1503Ile)
|
rs372802865
|
0.00008
|
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val)
|
rs200145042
|
0.00008
|
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)
|
rs748221725
|
0.00008
|
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys)
|
rs550171329
|
0.00008
|
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val)
|
rs151250199
|
0.00008
|
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)
|
rs377410590
|
0.00008
|
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala)
|
rs780396166
|
0.00008
|
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
|
rs749005373
|
0.00008
|
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp)
|
rs140567583
|
0.00008
|
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His)
|
rs746141355
|
0.00008
|
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln)
|
rs774319570
|
0.00008
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His)
|
rs191723029
|
0.00008
|
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)
|
rs776288515
|
0.00008
|
NM_182961.4(SYNE1):c.25625G>A (p.Arg8542Gln)
|
rs538407539
|
0.00008
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)
|
rs774776856
|
0.00008
|
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys)
|
rs187117263
|
0.00008
|
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln)
|
rs374482089
|
0.00008
|
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn)
|
rs151039167
|
0.00008
|
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr)
|
rs141821444
|
0.00008
|
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro)
|
rs56308121
|
0.00008
|
NM_198994.3(TGM6):c.1170C>T (p.Phe390=)
|
rs765423180
|
0.00008
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000391.4(TPP1):c.859A>G (p.Ile287Val)
|
rs578253592
|
0.00007
|
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_000784.4(CYP27A1):c.878T>C (p.Met293Thr)
|
rs368735609
|
0.00007
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val)
|
rs373971733
|
0.00007
|
NM_001173990.3(TMEM216):c.*525T>G
|
rs982189283
|
0.00007
|
NM_001278064.2(GRM1):c.1165A>C (p.Asn389His)
|
rs769064791
|
0.00007
|
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys)
|
rs766453312
|
0.00007
|
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met)
|
rs370778483
|
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_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)
|
rs200212002
|
0.00007
|
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg)
|
rs767318500
|
0.00007
|
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)
|
rs752648207
|
0.00007
|
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp)
|
rs1024300760
|
0.00007
|
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys)
|
rs185130908
|
0.00007
|
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
|
rs200546493
|
0.00007
|
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser)
|
rs181079660
|
0.00007
|
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg)
|
rs775754786
|
0.00007
|
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val)
|
rs775759544
|
0.00007
|
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser)
|
rs200114105
|
0.00007
|
NM_003383.5(VLDLR):c.-207G>A
|
rs1429851395
|
0.00007
|
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)
|
rs370575901
|
0.00007
|
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys)
|
rs137983175
|
0.00007
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754
|
0.00007
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335
|
0.00007
|
NM_005245.4(FAT1):c.8041C>T (p.Pro2681Ser)
|
rs369221848
|
0.00007
|
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)
|
rs753324919
|
0.00007
|
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)
|
rs150309559
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
|
rs539836931
|
0.00007
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly)
|
rs9552930
|
0.00007
|
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)
|
rs758563983
|
0.00007
|
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)
|
rs141163823
|
0.00007
|
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)
|
rs372021275
|
0.00007
|
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)
|
rs369451829
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)
|
rs750235612
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)
|
rs138777811
|
0.00007
|
NM_016169.4(SUFU):c.625C>T (p.His209Tyr)
|
rs770678862
|
0.00007
|
NM_016373.4(WWOX):c.443G>C (p.Gly148Ala)
|
rs372660669
|
0.00007
|
NM_016373.4(WWOX):c.981G>A (p.Met327Ile)
|
rs758307666
|
0.00007
|
NM_018718.3(CEP41):c.*1284A>G
|
rs376297063
|
0.00007
|
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
|
rs781835148
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_033064.5(ATCAY):c.*1409T>C
|
rs886054421
|
0.00007
|
NM_033064.5(ATCAY):c.*3136A>T
|
rs569189077
|
0.00007
|
NM_153704.6(TMEM67):c.1674+14A>T
|
rs769381574
|
0.00007
|
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg)
|
rs757105976
|
0.00007
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met)
|
rs148158986
|
0.00007
|
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln)
|
rs781427258
|
0.00007
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)
|
rs772814249
|
0.00007
|
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)
|
rs369192821
|
0.00007
|
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)
|
rs377446250
|
0.00007
|
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala)
|
rs555800735
|
0.00007
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr)
|
rs577979265
|
0.00007
|
NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu)
|
rs919427159
|
0.00007
|
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile)
|
rs373619878
|
0.00007
|
NM_198994.3(TGM6):c.834C>T (p.Ala278=)
|
rs371740473
|
0.00007
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000370.3(TTPA):c.*934C>T
|
rs776683493
|
0.00006
|
NM_000370.3(TTPA):c.355A>G (p.Ile119Val)
|
rs766200402
|
0.00006
|
NM_000370.3(TTPA):c.75G>C (p.Gln25His)
|
rs751638180
|
0.00006
|
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
|
rs748686068
|
0.00006
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met)
|
rs149366157
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
NM_001044385.3(TMEM237):c.*1560C>T
|
rs983166297
|
0.00006
|
NM_001044385.3(TMEM237):c.*3992A>G
|
rs768173661
|
0.00006
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)
|
rs368402335
|
0.00006
|
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
|
rs762041003
|
0.00006
|
NM_001077418.3(TMEM231):c.582+6A>G
|
rs376300743
|
0.00006
|
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_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
0.00006
|
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)
|
rs748557384
|
0.00006
|
NM_001130823.3(DNMT1):c.*211G>C
|
rs772999851
|
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_001134831.2(AHI1):c.10+13T>C
|
rs973391845
|
0.00006
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00006
|
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala)
|
rs754609881
|
0.00006
|
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe)
|
rs745507530
|
0.00006
|
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)
|
rs367640472
|
0.00006
|
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)
|
rs200368187
|
0.00006
|
NM_001134831.2(AHI1):c.708A>G (p.Lys236=)
|
rs368281930
|
0.00006
|
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)
|
rs201590073
|
0.00006
|
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly)
|
rs778792339
|
0.00006
|
NM_001134831.2(AHI1):c.853A>G (p.Met285Val)
|
rs200389118
|
0.00006
|
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)
|
rs144021458
|
0.00006
|
NM_001173990.3(TMEM216):c.*372C>T
|
rs565159932
|
0.00006
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001195248.2(APTX):c.*605G>A
|
rs545625482
|
0.00006
|
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)
|
rs117041645
|
0.00006
|
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr)
|
rs192397712
|
0.00006
|
NM_001329943.3(KIAA0586):c.1253+3A>G
|
rs762698768
|
0.00006
|
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His)
|
rs1214561950
|
0.00006
|
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu)
|
rs376649351
|
0.00006
|
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys)
|
rs755889131
|
0.00006
|
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser)
|
rs201702546
|
0.00006
|
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys)
|
rs373649439
|
0.00006
|
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr)
|
rs755205238
|
0.00006
|
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys)
|
rs573870218
|
0.00006
|
NM_001329943.3(KIAA0586):c.807+3A>T
|
rs771308299
|
0.00006
|
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro)
|
rs553130671
|
0.00006
|
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys)
|
rs191232589
|
0.00006
|
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)
|
rs200854314
|
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_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)
|
rs200034384
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
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_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr)
|
rs374330054
|
0.00006
|
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr)
|
rs533227813
|
0.00006
|
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp)
|
rs757384412
|
0.00006
|
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr)
|
rs376353407
|
0.00006
|
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg)
|
rs371072368
|
0.00006
|
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)
|
rs374765060
|
0.00006
|
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)
|
rs553988238
|
0.00006
|
NM_001386140.1(MTTP):c.*1118C>T
|
rs144013236
|
0.00006
|
NM_001386140.1(MTTP):c.1769+3A>G
|
rs375993709
|
0.00006
|
NM_001386140.1(MTTP):c.393+11G>A
|
rs367982075
|
0.00006
|
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met)
|
rs375982037
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
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_003383.5(VLDLR):c.1041G>C (p.Trp347Cys)
|
rs114872818
|
0.00006
|
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=)
|
rs372577949
|
0.00006
|
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile)
|
rs17848383
|
0.00006
|
NM_003383.5(VLDLR):c.449-14C>G
|
rs370176704
|
0.00006
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu)
|
rs758618193
|
0.00006
|
NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp)
|
rs140655170
|
0.00006
|
NM_006946.4(SPTBN2):c.1653+13C>T
|
rs376349935
|
0.00006
|
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=)
|
rs371535973
|
0.00006
|
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)
|
rs768567927
|
0.00006
|
NM_014053.4(FLVCR1):c.*114C>T
|
rs184177347
|
0.00006
|
NM_014363.6(SACS):c.10047A>G (p.Ser3349=)
|
rs138909482
|
0.00006
|
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)
|
rs1299454627
|
0.00006
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)
|
rs770895110
|
0.00006
|
NM_014363.6(SACS):c.169G>C (p.Glu57Gln)
|
rs1021024627
|
0.00006
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)
|
rs886050088
|
0.00006
|
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=)
|
rs200350631
|
0.00006
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)
|
rs201294520
|
0.00006
|
NM_014363.6(SACS):c.954A>G (p.Leu318=)
|
rs147412202
|
0.00006
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
|
rs200453385
|
0.00006
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
NM_015046.7(SETX):c.*1523A>G
|
rs758582946
|
0.00006
|
NM_015046.7(SETX):c.*1534G>A
|
rs886063548
|
0.00006
|
NM_015046.7(SETX):c.*2610T>G
|
rs530469492
|
0.00006
|
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)
|
rs148375192
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)
|
rs373571937
|
0.00006
|
NM_015046.7(SETX):c.5853C>G (p.His1951Gln)
|
rs928020122
|
0.00006
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
NM_015046.7(SETX):c.768G>T (p.Leu256=)
|
rs759468738
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_015160.3(PMPCA):c.258G>C (p.Gln86His)
|
rs141305380
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*1276G>A
|
rs375800554
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*418G>A
|
rs886052090
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*980T>C
|
rs886052087
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro)
|
rs150099624
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly)
|
rs794727129
|
0.00006
|
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys)
|
rs527539036
|
0.00006
|
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr)
|
rs148356821
|
0.00006
|
NM_016169.4(SUFU):c.*520G>A
|
rs757315966
|
0.00006
|
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)
|
rs149449923
|
0.00006
|
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr)
|
rs748099523
|
0.00006
|
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)
|
rs768935165
|
0.00006
|
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr)
|
rs199585408
|
0.00006
|
NM_016373.4(WWOX):c.925C>T (p.Arg309Cys)
|
rs761545702
|
0.00006
|
NM_016373.4(WWOX):c.958G>A (p.Ala320Thr)
|
rs368670215
|
0.00006
|
NM_016464.5(TMEM138):c.*354C>G
|
rs889868449
|
0.00006
|
NM_016464.5(TMEM138):c.*547C>T
|
rs781358495
|
0.00006
|
NM_016464.5(TMEM138):c.-164T>C
|
rs886048407
|
0.00006
|
NM_017872.5(THG1L):c.137C>A (p.Thr46Asn)
|
rs746295635
|
0.00006
|
NM_018012.4(KIF26B):c.2605G>A (p.Gly869Arg)
|
rs199690740
|
0.00006
|
NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg)
|
rs761659935
|
0.00006
|
NM_018319.4(TDP1):c.*904C>T
|
rs886050884
|
0.00006
|
NM_018319.4(TDP1):c.789C>T (p.His263=)
|
rs562317662
|
0.00006
|
NM_018718.3(CEP41):c.*1411G>T
|
rs886061996
|
0.00006
|
NM_018718.3(CEP41):c.*409A>C
|
rs782042681
|
0.00006
|
NM_018718.3(CEP41):c.*776G>A
|
rs374833862
|
0.00006
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_018718.3(CEP41):c.407G>A (p.Arg136His)
|
rs546106020
|
0.00006
|
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys)
|
rs779077930
|
0.00006
|
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val)
|
rs141687205
|
0.00006
|
NM_020247.5(COQ8A):c.664G>A (p.Val222Met)
|
rs372435075
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_021830.5(TWNK):c.-644A>T
|
rs886046623
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_024411.4(PDYN):c.-358G>A
|
rs745377265
|
0.00006
|
NM_024411.5(PDYN):c.*636G>C
|
rs993395808
|
0.00006
|
NM_024411.5(PDYN):c.616C>T (p.Arg206Cys)
|
rs575606358
|
0.00006
|
NM_025114.4(CEP290):c.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
0.00006
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_025114.4(CEP290):c.5709+12A>G
|
rs371010287
|
0.00006
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
NM_025114.4(CEP290):c.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_033064.5(ATCAY):c.*2395G>A
|
rs550621569
|
0.00006
|
NM_033064.5(ATCAY):c.*3377G>A
|
rs975924890
|
0.00006
|
NM_033064.5(ATCAY):c.*3415G>A
|
rs546687056
|
0.00006
|
NM_033064.5(ATCAY):c.647+14C>T
|
rs755568668
|
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_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala)
|
rs202162088
|
0.00006
|
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)
|
rs192288680
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_153704.6(TMEM67):c.869+17T>A
|
rs767408748
|
0.00006
|
NM_173500.4(TTBK2):c.*847T>C
|
rs567667407
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly)
|
rs201621810
|
0.00006
|
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=)
|
rs377049622
|
0.00006
|
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp)
|
rs146919170
|
0.00006
|
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu)
|
rs375752705
|
0.00006
|
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys)
|
rs148935596
|
0.00006
|
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)
|
rs145738035
|
0.00006
|
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val)
|
rs145639107
|
0.00006
|
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr)
|
rs201900423
|
0.00006
|
NM_182961.4(SYNE1):c.13208C>T (p.Ser4403Leu)
|
rs139490297
|
0.00006
|
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp)
|
rs75153800
|
0.00006
|
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala)
|
rs149081144
|
0.00006
|
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln)
|
rs1267929537
|
0.00006
|
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)
|
rs147125369
|
0.00006
|
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro)
|
rs371189077
|
0.00006
|
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val)
|
rs143910248
|
0.00006
|
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His)
|
rs561648669
|
0.00006
|
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile)
|
rs557729565
|
0.00006
|
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser)
|
rs747674900
|
0.00006
|
NM_182961.4(SYNE1):c.19693-15G>A
|
rs187885923
|
0.00006
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys)
|
rs781626097
|
0.00006
|
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)
|
rs143900928
|
0.00006
|
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile)
|
rs371476665
|
0.00006
|
NM_182961.4(SYNE1):c.25283C>A (p.Ala8428Glu)
|
rs775901718
|
0.00006
|
NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro)
|
rs770802176
|
0.00006
|
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His)
|
rs144888773
|
0.00006
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00006
|
NM_182961.4(SYNE1):c.310-468G>A
|
rs143635963
|
0.00006
|
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser)
|
rs750010888
|
0.00006
|
NM_182961.4(SYNE1):c.336C>T (p.Thr112=)
|
rs149008539
|
0.00006
|
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala)
|
rs148733093
|
0.00006
|
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)
|
rs760256766
|
0.00006
|
NM_182961.4(SYNE1):c.3872A>G (p.Asp1291Gly)
|
rs148000801
|
0.00006
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
|
rs149606474
|
0.00006
|
NM_182961.4(SYNE1):c.4819A>G (p.Ser1607Gly)
|
rs752342922
|
0.00006
|
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)
|
rs755866233
|
0.00006
|
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly)
|
rs555731770
|
0.00006
|
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr)
|
rs772266857
|
0.00006
|
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly)
|
rs557081125
|
0.00006
|
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys)
|
rs747706541
|
0.00006
|
NM_182961.4(SYNE1):c.581+7A>G
|
rs367617527
|
0.00006
|
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=)
|
rs533039765
|
0.00006
|
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys)
|
rs367594476
|
0.00006
|
NM_182961.4(SYNE1):c.666G>A (p.Pro222=)
|
rs141368652
|
0.00006
|
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00006
|
NM_182961.4(SYNE1):c.7474G>T (p.Ala2492Ser)
|
rs761396972
|
0.00006
|
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser)
|
rs763615170
|
0.00006
|
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)
|
rs140568392
|
0.00006
|
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)
|
rs77221231
|
0.00006
|
NM_182961.4(SYNE1):c.9807+6G>A
|
rs376694958
|
0.00006
|
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val)
|
rs373760161
|
0.00006
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_000370.3(TTPA):c.*1716T>C
|
rs1029598636
|
0.00005
|
NM_000384.3(APOB):c.5913G>A (p.Leu1971=)
|
rs374251542
|
0.00005
|
NM_000391.4(TPP1):c.1425G>A (p.Ser475=)
|
rs779333902
|
0.00005
|
NM_000391.4(TPP1):c.1490G>A (p.Arg497His)
|
rs549928656
|
0.00005
|
NM_000784.4(CYP27A1):c.1185-3C>A
|
rs373628198
|
0.00005
|
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp)
|
rs570721628
|
0.00005
|
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val)
|
rs372772968
|
0.00005
|
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys)
|
rs774541162
|
0.00005
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg)
|
rs751804153
|
0.00005
|
NM_001044385.3(TMEM237):c.*3385C>T
|
rs374762322
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001077418.2(TMEM231):c.-62A>C
|
rs964025567
|
0.00005
|
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)
|
rs534052463
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)
|
rs200284291
|
0.00005
|
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser)
|
rs1054781365
|
0.00005
|
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser)
|
rs563531719
|
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_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
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_001382391.1(CSPP1):c.113C>T (p.Ala38Val)
|
rs201536815
|
0.00005
|
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile)
|
rs772097768
|
0.00005
|
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp)
|
rs759299114
|
0.00005
|
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu)
|
rs376210928
|
0.00005
|
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly)
|
rs559765139
|
0.00005
|
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln)
|
rs779204541
|
0.00005
|
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His)
|
rs375978348
|
0.00005
|
NM_001382391.1(CSPP1):c.2710+6G>A
|
rs369255080
|
0.00005
|
NM_001386140.1(MTTP):c.173G>A (p.Arg58His)
|
rs201464944
|
0.00005
|
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys)
|
rs148696330
|
0.00005
|
NM_002739.5(PRKCG):c.*184C>T
|
rs764816557
|
0.00005
|
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys)
|
rs754226022
|
0.00005
|
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn)
|
rs768045623
|
0.00005
|
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn)
|
rs113347960
|
0.00005
|
NM_003383.5(VLDLR):c.921C>T (p.Ser307=)
|
rs777240049
|
0.00005
|
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)
|
rs754831171
|
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.1895C>T (p.Ala632Val)
|
rs757932120
|
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_014053.4(FLVCR1):c.*1422T>A
|
rs138620842
|
0.00005
|
NM_014053.4(FLVCR1):c.*1549A>G
|
rs1332609883
|
0.00005
|
NM_014053.4(FLVCR1):c.1525+13G>A
|
rs377087497
|
0.00005
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
NM_014363.6(SACS):c.3729A>G (p.Glu1243=)
|
rs756663705
|
0.00005
|
NM_014363.6(SACS):c.396A>G (p.Leu132=)
|
rs1256540997
|
0.00005
|
NM_014363.6(SACS):c.447G>A (p.Ala149=)
|
rs145681117
|
0.00005
|
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)
|
rs199998045
|
0.00005
|
NM_014363.6(SACS):c.51C>T (p.Cys17=)
|
rs763979020
|
0.00005
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
|
rs142697365
|
0.00005
|
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)
|
rs767982852
|
0.00005
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)
|
rs755920468
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1029+3A>C
|
rs778583149
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)
|
rs139964287
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu)
|
rs141574764
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser)
|
rs776251343
|
0.00005
|
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr)
|
rs146889077
|
0.00005
|
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln)
|
rs756615407
|
0.00005
|
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)
|
rs761921681
|
0.00005
|
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)
|
rs141359583
|
0.00005
|
NM_016373.4(WWOX):c.445G>A (p.Ala149Thr)
|
rs200820063
|
0.00005
|
NM_016373.4(WWOX):c.508G>A (p.Glu170Lys)
|
rs758121265
|
0.00005
|
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val)
|
rs745506522
|
0.00005
|
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala)
|
rs764405866
|
0.00005
|
NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val)
|
rs559975316
|
0.00005
|
NM_018075.5(ANO10):c.1288C>T (p.Arg430Cys)
|
rs200570277
|
0.00005
|
NM_018718.3(CEP41):c.*1352G>A
|
rs1380245671
|
0.00005
|
NM_018718.3(CEP41):c.*1538A>C
|
rs777673385
|
0.00005
|
NM_018718.3(CEP41):c.*3193C>T
|
rs886061989
|
0.00005
|
NM_018718.3(CEP41):c.*4769C>T
|
rs965337048
|
0.00005
|
NM_018718.3(CEP41):c.*614A>G
|
rs781791465
|
0.00005
|
NM_018718.3(CEP41):c.*682A>G
|
rs782649697
|
0.00005
|
NM_018718.3(CEP41):c.*881G>A
|
rs782801860
|
0.00005
|
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=)
|
rs567318021
|
0.00005
|
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)
|
rs774789966
|
0.00005
|
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr)
|
rs147812454
|
0.00005
|
NM_020247.5(COQ8A):c.798G>A (p.Thr266=)
|
rs750042754
|
0.00005
|
NM_024411.5(PDYN):c.538C>T (p.Arg180Cys)
|
rs370283678
|
0.00005
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_033064.5(ATCAY):c.*1801T>C
|
rs537102677
|
0.00005
|
NM_033064.5(ATCAY):c.*2265G>A
|
rs886054423
|
0.00005
|
NM_033064.5(ATCAY):c.*2996G>A
|
rs886054427
|
0.00005
|
NM_033064.5(ATCAY):c.*958G>A
|
rs901656902
|
0.00005
|
NM_033064.5(ATCAY):c.370G>A (p.Val124Met)
|
rs147684273
|
0.00005
|
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His)
|
rs146130549
|
0.00005
|
NM_153816.6(SNX14):c.140+9G>A
|
rs751616334
|
0.00005
|
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)
|
rs200437800
|
0.00005
|
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp)
|
rs145117891
|
0.00005
|
NM_182961.4(SYNE1):c.10443+5G>A
|
rs557835636
|
0.00005
|
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile)
|
rs760680769
|
0.00005
|
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr)
|
rs141719907
|
0.00005
|
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly)
|
rs377526133
|
0.00005
|
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr)
|
rs775930653
|
0.00005
|
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
|
rs368653411
|
0.00005
|
NM_182961.4(SYNE1):c.16094C>T (p.Thr5365Ile)
|
rs1273141730
|
0.00005
|
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser)
|
rs773901491
|
0.00005
|
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg)
|
rs144714939
|
0.00005
|
NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu)
|
rs769058871
|
0.00005
|
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu)
|
rs200589166
|
0.00005
|
NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys)
|
rs200360218
|
0.00005
|
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg)
|
rs572189966
|
0.00005
|
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp)
|
rs368534747
|
0.00005
|
NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met)
|
rs184210675
|
0.00005
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His)
|
rs760706012
|
0.00005
|
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=)
|
rs766515787
|
0.00005
|
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn)
|
rs779301586
|
0.00005
|
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser)
|
rs777227521
|
0.00005
|
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile)
|
rs760451139
|
0.00005
|
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
|
rs374866393
|
0.00005
|
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
|
rs141278167
|
0.00005
|
NM_182961.4(SYNE1):c.23168G>A (p.Ser7723Asn)
|
rs146280967
|
0.00005
|
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=)
|
rs767628258
|
0.00005
|
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)
|
rs772622270
|
0.00005
|
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys)
|
rs139885317
|
0.00005
|
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)
|
rs771221504
|
0.00005
|
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn)
|
rs748216902
|
0.00005
|
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg)
|
rs759004104
|
0.00005
|
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met)
|
rs139560053
|
0.00005
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
NM_182961.4(SYNE1):c.3269T>G (p.Val1090Gly)
|
rs539464964
|
0.00005
|
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys)
|
rs754120599
|
0.00005
|
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg)
|
rs769420760
|
0.00005
|
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu)
|
rs201127061
|
0.00005
|
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val)
|
rs528549317
|
0.00005
|
NM_182961.4(SYNE1):c.8222G>A (p.Arg2741Lys)
|
rs181218387
|
0.00005
|
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr)
|
rs756079906
|
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_000144.5(FXN):c.146C>A (p.Thr49Asn)
|
rs995690945
|
0.00004
|
NM_000253.4(MTTP):c.-153C>G
|
rs886058954
|
0.00004
|
NM_000370.3(TTPA):c.*1486C>T
|
rs535310725
|
0.00004
|
NM_000370.3(TTPA):c.352A>G (p.Arg118Gly)
|
rs751549880
|
0.00004
|
NM_000370.3(TTPA):c.616G>A (p.Val206Ile)
|
rs554118281
|
0.00004
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val)
|
rs147321244
|
0.00004
|
NM_001044385.3(TMEM237):c.*1108A>G
|
rs758086204
|
0.00004
|
NM_001044385.3(TMEM237):c.*2964T>A
|
rs955949981
|
0.00004
|
NM_001044385.3(TMEM237):c.*74T>C
|
rs190276722
|
0.00004
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
|
rs370790275
|
0.00004
|
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met)
|
rs755252433
|
0.00004
|
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
|
rs374042611
|
0.00004
|
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
|
rs200892635
|
0.00004
|
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val)
|
rs374399278
|
0.00004
|
NM_001077418.3(TMEM231):c.140-33C>T
|
rs901311435
|
0.00004
|
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)
|
rs774528098
|
0.00004
|
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)
|
rs756494100
|
0.00004
|
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)
|
rs770469234
|
0.00004
|
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)
|
rs373660568
|
0.00004
|
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His)
|
rs753292136
|
0.00004
|
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_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)
|
rs577560349
|
0.00004
|
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr)
|
rs143231282
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg)
|
rs781531545
|
0.00004
|
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)
|
rs794726975
|
0.00004
|
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)
|
rs375317119
|
0.00004
|
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr)
|
rs370786558
|
0.00004
|
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
|
rs761804458
|
0.00004
|
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr)
|
rs761596435
|
0.00004
|
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val)
|
rs763696602
|
0.00004
|
NM_001134831.2(AHI1):c.2492+15G>A
|
rs535243555
|
0.00004
|
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln)
|
rs371242173
|
0.00004
|
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser)
|
rs1020870112
|
0.00004
|
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)
|
rs200250333
|
0.00004
|
NM_001134831.2(AHI1):c.83G>A (p.Arg28His)
|
rs36115433
|
0.00004
|
NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser)
|
rs775905402
|
0.00004
|
NM_001173990.2(TMEM216):c.-264C>T
|
rs1365742655
|
0.00004
|
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)
|
rs368617773
|
0.00004
|
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)
|
rs541257103
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)
|
rs142133683
|
0.00004
|
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His)
|
rs773375756
|
0.00004
|
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser)
|
rs773524165
|
0.00004
|
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala)
|
rs774592908
|
0.00004
|
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg)
|
rs749825699
|
0.00004
|
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser)
|
rs967603971
|
0.00004
|
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His)
|
rs200490147
|
0.00004
|
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu)
|
rs772256006
|
0.00004
|
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu)
|
rs1049863128
|
0.00004
|
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr)
|
rs368136238
|
0.00004
|
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly)
|
rs761946256
|
0.00004
|
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg)
|
rs374096160
|
0.00004
|
NM_001329943.3(KIAA0586):c.4495+3791G>A
|
rs924361010
|
0.00004
|
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala)
|
rs199837404
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
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_001377405.1(ATXN7):c.2120G>A (p.Arg707His)
|
rs368917711
|
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.709-6T>C
|
rs374932152
|
0.00004
|
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)
|
rs775138548
|
0.00004
|
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn)
|
rs373797532
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser)
|
rs1372095738
|
0.00004
|
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr)
|
rs371566997
|
0.00004
|
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg)
|
rs763307442
|
0.00004
|
NM_001382391.1(CSPP1):c.1827+5T>C
|
rs897591892
|
0.00004
|
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe)
|
rs374318063
|
0.00004
|
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp)
|
rs778822396
|
0.00004
|
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys)
|
rs753718429
|
0.00004
|
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)
|
rs750443075
|
0.00004
|
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)
|
rs768603321
|
0.00004
|
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln)
|
rs201972175
|
0.00004
|
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly)
|
rs374744285
|
0.00004
|
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu)
|
rs761172555
|
0.00004
|
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn)
|
rs113092257
|
0.00004
|
NM_001386140.1(MTTP):c.*826T>C
|
rs960548926
|
0.00004
|
NM_001386140.1(MTTP):c.*98T>A
|
rs886058961
|
0.00004
|
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)
|
rs371307089
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001386140.1(MTTP):c.163G>A (p.Val55Met)
|
rs369453726
|
0.00004
|
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=)
|
rs761984561
|
0.00004
|
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val)
|
rs764357849
|
0.00004
|
NM_001386140.1(MTTP):c.501+8C>T
|
rs773537875
|
0.00004
|
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr)
|
rs759200881
|
0.00004
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
0.00004
|
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln)
|
rs137870998
|
0.00004
|
NM_003383.5(VLDLR):c.*281G>C
|
rs753515879
|
0.00004
|
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)
|
rs372963310
|
0.00004
|
NM_003383.5(VLDLR):c.2416+13C>T
|
rs200878136
|
0.00004
|
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr)
|
rs116082439
|
0.00004
|
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)
|
rs369627815
|
0.00004
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122
|
0.00004
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880
|
0.00004
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191
|
0.00004
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377
|
0.00004
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs1286140759
|
0.00004
|
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)
|
rs148548795
|
0.00004
|
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)
|
rs201460139
|
0.00004
|
NM_004115.4(FGF14):c.477C>T (p.Ser159=)
|
rs776794756
|
0.00004
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
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_007254.4(PNKP):c.1177C>T (p.His393Tyr)
|
rs772610025
|
0.00004
|
NM_014053.4(FLVCR1):c.*8G>A
|
rs886045929
|
0.00004
|
NM_014053.4(FLVCR1):c.-104G>A
|
rs1195891357
|
0.00004
|
NM_014053.4(FLVCR1):c.-36G>A
|
rs886045922
|
0.00004
|
NM_014363.6(SACS):c.*1200A>G
|
rs558041482
|
0.00004
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr)
|
rs761189797
|
0.00004
|
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)
|
rs199881455
|
0.00004
|
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile)
|
rs199970621
|
0.00004
|
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
|
rs200900703
|
0.00004
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
|
rs145188410
|
0.00004
|
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)
|
rs149427669
|
0.00004
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)
|
rs761791412
|
0.00004
|
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)
|
rs770677319
|
0.00004
|
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)
|
rs1033188876
|
0.00004
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
NM_014363.6(SACS):c.151C>T (p.Leu51=)
|
rs979224977
|
0.00004
|
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)
|
rs140507581
|
0.00004
|
NM_014363.6(SACS):c.1791A>T (p.Ser597=)
|
rs371175405
|
0.00004
|
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)
|
rs761960824
|
0.00004
|
NM_014363.6(SACS):c.346-3T>A
|
rs186506382
|
0.00004
|
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
|
rs374961109
|
0.00004
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)
|
rs201690040
|
0.00004
|
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)
|
rs764516788
|
0.00004
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)
|
rs772611372
|
0.00004
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr)
|
rs202144442
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
0.00004
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
NM_015046.7(SETX):c.146A>G (p.Lys49Arg)
|
rs142551293
|
0.00004
|
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
NM_015046.7(SETX):c.540A>G (p.Lys180=)
|
rs757470639
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
|
rs374110190
|
0.00004
|
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr)
|
rs774458684
|
0.00004
|
NM_015046.7(SETX):c.9A>G (p.Thr3=)
|
rs139681694
|
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_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly)
|
rs752128105
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
|
rs374098422
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)
|
rs769280712
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)
|
rs371763050
|
0.00004
|
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)
|
rs201413825
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)
|
rs750930363
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)
|
rs989489575
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val)
|
rs966474941
|
0.00004
|
NM_016169.4(SUFU):c.*2267G>T
|
rs886046660
|
0.00004
|
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val)
|
rs991500079
|
0.00004
|
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)
|
rs149016373
|
0.00004
|
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)
|
rs768170991
|
0.00004
|
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln)
|
rs373148311
|
0.00004
|
NM_016373.4(WWOX):c.164T>C (p.Val55Ala)
|
rs775944673
|
0.00004
|
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu)
|
rs201008667
|
0.00004
|
NM_016373.4(WWOX):c.322G>A (p.Asp108Asn)
|
rs747575799
|
0.00004
|
NM_016373.4(WWOX):c.605T>G (p.Val202Gly)
|
rs112636835
|
0.00004
|
NM_016373.4(WWOX):c.673C>G (p.Leu225Val)
|
rs376040091
|
0.00004
|
NM_016373.4(WWOX):c.721C>G (p.Gln241Glu)
|
rs540386692
|
0.00004
|
NM_016373.4(WWOX):c.760C>T (p.Arg254Cys)
|
rs369715848
|
0.00004
|
NM_016373.4(WWOX):c.926G>A (p.Arg309His)
|
rs370792938
|
0.00004
|
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile)
|
rs763118625
|
0.00004
|
NM_016464.5(TMEM138):c.377-3C>T
|
rs774110963
|
0.00004
|
NM_017791.3(FLVCR2):c.*1588A>C
|
rs764448107
|
0.00004
|
NM_017791.3(FLVCR2):c.*1672G>A
|
rs569521792
|
0.00004
|
NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu)
|
rs372243784
|
0.00004
|
NM_018075.5(ANO10):c.*164C>T
|
rs1025591959
|
0.00004
|
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)
|
rs373386030
|
0.00004
|
NM_018075.5(ANO10):c.592+3A>G
|
rs775510692
|
0.00004
|
NM_018319.4(TDP1):c.*1200G>A
|
rs758892109
|
0.00004
|
NM_018319.4(TDP1):c.*37T>C
|
rs374710359
|
0.00004
|
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr)
|
rs202165305
|
0.00004
|
NM_018718.3(CEP41):c.*3451G>A
|
rs144534675
|
0.00004
|
NM_018718.3(CEP41):c.*4385C>T
|
rs556578226
|
0.00004
|
NM_018718.3(CEP41):c.*747G>A
|
rs782582354
|
0.00004
|
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)
|
rs371812716
|
0.00004
|
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly)
|
rs782048004
|
0.00004
|
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
|
rs200882016
|
0.00004
|
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
|
rs200709703
|
0.00004
|
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
|
rs782392521
|
0.00004
|
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu)
|
rs1422686570
|
0.00004
|
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=)
|
rs764541059
|
0.00004
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
0.00004
|
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln)
|
rs145422777
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_021830.5(TWNK):c.*234T>G
|
rs886046633
|
0.00004
|
NM_021830.5(TWNK):c.*438G>C
|
rs886046634
|
0.00004
|
NM_021830.5(TWNK):c.*561C>T
|
rs901722933
|
0.00004
|
NM_021830.5(TWNK):c.*574C>T
|
rs886046636
|
0.00004
|
NM_021830.5(TWNK):c.-549G>A
|
rs886046625
|
0.00004
|
NM_021830.5(TWNK):c.1572C>T (p.His524=)
|
rs774091248
|
0.00004
|
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
|
rs139124415
|
0.00004
|
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
|
rs771310512
|
0.00004
|
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe)
|
rs775046032
|
0.00004
|
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)
|
rs767175342
|
0.00004
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
rs368863664
|
0.00004
|
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)
|
rs563414935
|
0.00004
|
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala)
|
rs145709743
|
0.00004
|
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu)
|
rs1478296366
|
0.00004
|
NM_024411.5(PDYN):c.*261C>T
|
rs886056534
|
0.00004
|
NM_024411.5(PDYN):c.*320C>T
|
rs1022899056
|
0.00004
|
NM_025114.4(CEP290):c.-96C>T
|
rs528270888
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)
|
rs754736974
|
0.00004
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)
|
rs765709669
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_033064.5(ATCAY):c.*1761C>T
|
rs777283516
|
0.00004
|
NM_033064.5(ATCAY):c.*939G>A
|
rs886054419
|
0.00004
|
NM_033064.5(ATCAY):c.420C>T (p.Asp140=)
|
rs548256146
|
0.00004
|
NM_033064.5(ATCAY):c.957C>T (p.Cys319=)
|
rs370680121
|
0.00004
|
NM_152703.5(SAMD9L):c.483G>T (p.Leu161Phe)
|
rs375402434
|
0.00004
|
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu)
|
rs780823805
|
0.00004
|
NM_153704.6(TMEM67):c.31A>G (p.Met11Val)
|
rs758761945
|
0.00004
|
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln)
|
rs769351856
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys)
|
rs776816480
|
0.00004
|
NM_182961.4(SYNE1):c.10658T>C (p.Leu3553Pro)
|
rs774759366
|
0.00004
|
NM_182961.4(SYNE1):c.11246C>T (p.Thr3749Met)
|
rs778034684
|
0.00004
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
NM_182961.4(SYNE1):c.11302C>T (p.Arg3768Trp)
|
rs371013745
|
0.00004
|
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
|
rs780693119
|
0.00004
|
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
|
rs76410834
|
0.00004
|
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu)
|
rs780637080
|
0.00004
|
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His)
|
rs190032752
|
0.00004
|
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu)
|
rs772000149
|
0.00004
|
NM_182961.4(SYNE1):c.12099C>T (p.His4033=)
|
rs375862387
|
0.00004
|
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu)
|
rs148036239
|
0.00004
|
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys)
|
rs762119902
|
0.00004
|
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val)
|
rs150409035
|
0.00004
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
NM_182961.4(SYNE1):c.13431G>A (p.Met4477Ile)
|
rs1007433720
|
0.00004
|
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His)
|
rs148248006
|
0.00004
|
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys)
|
rs371375804
|
0.00004
|
NM_182961.4(SYNE1):c.14291G>A (p.Arg4764Gln)
|
rs745701031
|
0.00004
|
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val)
|
rs767978898
|
0.00004
|
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala)
|
rs534678815
|
0.00004
|
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys)
|
rs780258342
|
0.00004
|
NM_182961.4(SYNE1):c.14984G>A (p.Cys4995Tyr)
|
rs765800192
|
0.00004
|
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
|
rs757086609
|
0.00004
|
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met)
|
rs202105931
|
0.00004
|
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln)
|
rs776100963
|
0.00004
|
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His)
|
rs753544584
|
0.00004
|
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)
|
rs202171698
|
0.00004
|
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln)
|
rs367925174
|
0.00004
|
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val)
|
rs763218931
|
0.00004
|
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser)
|
rs767508394
|
0.00004
|
NM_182961.4(SYNE1):c.17780C>T (p.Pro5927Leu)
|
rs145085256
|
0.00004
|
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His)
|
rs746220387
|
0.00004
|
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp)
|
rs200209279
|
0.00004
|
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala)
|
rs146618884
|
0.00004
|
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser)
|
rs868377407
|
0.00004
|
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr)
|
rs143594709
|
0.00004
|
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys)
|
rs143554730
|
0.00004
|
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)
|
rs774558249
|
0.00004
|
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile)
|
rs563568189
|
0.00004
|
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp)
|
rs140903556
|
0.00004
|
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile)
|
rs769943110
|
0.00004
|
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg)
|
rs752508132
|
0.00004
|
NM_182961.4(SYNE1):c.21249G>T (p.Gln7083His)
|
rs777155965
|
0.00004
|
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser)
|
rs778441411
|
0.00004
|
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)
|
rs377449974
|
0.00004
|
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)
|
rs776733924
|
0.00004
|
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr)
|
rs190781696
|
0.00004
|
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val)
|
rs139077054
|
0.00004
|
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=)
|
rs200800604
|
0.00004
|
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val)
|
rs746456193
|
0.00004
|
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys)
|
rs769930534
|
0.00004
|
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)
|
rs267600861
|
0.00004
|
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)
|
rs201548223
|
0.00004
|
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln)
|
rs200137670
|
0.00004
|
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)
|
rs369073682
|
0.00004
|
NM_182961.4(SYNE1):c.24977-1719A>G
|
rs202030113
|
0.00004
|
NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys)
|
rs755199419
|
0.00004
|
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)
|
rs369691475
|
0.00004
|
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe)
|
rs757463285
|
0.00004
|
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met)
|
rs759512753
|
0.00004
|
NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu)
|
rs191807870
|
0.00004
|
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=)
|
rs746159592
|
0.00004
|
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)
|
rs747635401
|
0.00004
|
NM_182961.4(SYNE1):c.3186+4C>T
|
rs747984490
|
0.00004
|
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)
|
rs149415204
|
0.00004
|
NM_182961.4(SYNE1):c.3497C>T (p.Ala1166Val)
|
rs765122984
|
0.00004
|
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val)
|
rs200629713
|
0.00004
|
NM_182961.4(SYNE1):c.3670-4A>G
|
rs377058395
|
0.00004
|
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln)
|
rs774093065
|
0.00004
|
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp)
|
rs200763530
|
0.00004
|
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln)
|
rs201144728
|
0.00004
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00004
|
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val)
|
rs767783076
|
0.00004
|
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln)
|
rs760544014
|
0.00004
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
NM_182961.4(SYNE1):c.509G>A (p.Arg170Gln)
|
rs779239788
|
0.00004
|
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
|
rs540091060
|
0.00004
|
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp)
|
rs763781396
|
0.00004
|
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg)
|
rs779891217
|
0.00004
|
NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu)
|
rs150249753
|
0.00004
|
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro)
|
rs375773340
|
0.00004
|
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser)
|
rs377180714
|
0.00004
|
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)
|
rs757960938
|
0.00004
|
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr)
|
rs770907182
|
0.00004
|
NM_182961.4(SYNE1):c.888+4G>C
|
rs749258298
|
0.00004
|
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu)
|
rs368607560
|
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.543+7A>G
|
rs755777005
|
0.00004
|
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)
|
rs202245813
|
0.00004
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000370.3(TTPA):c.*239C>T
|
rs761554482
|
0.00003
|
NM_000370.3(TTPA):c.-18G>A
|
rs764083716
|
0.00003
|
NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys)
|
rs368131865
|
0.00003
|
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg)
|
rs200547556
|
0.00003
|
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)
|
rs143425834
|
0.00003
|
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys)
|
rs747610107
|
0.00003
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu)
|
rs780927834
|
0.00003
|
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys)
|
rs539356203
|
0.00003
|
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys)
|
rs774127681
|
0.00003
|
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser)
|
rs371510438
|
0.00003
|
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)
|
rs1364383591
|
0.00003
|
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala)
|
rs1046723537
|
0.00003
|
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu)
|
rs773892447
|
0.00003
|
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His)
|
rs761927223
|
0.00003
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln)
|
rs556715266
|
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_000784.4(CYP27A1):c.967C>T (p.Arg323Trp)
|
rs371603253
|
0.00003
|
NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys)
|
rs782683285
|
0.00003
|
NM_001001344.3(ATP2B3):c.2105G>A (p.Arg702His)
|
rs782587313
|
0.00003
|
NM_001001344.3(ATP2B3):c.2357G>A (p.Arg786Gln)
|
rs201426629
|
0.00003
|
NM_001044385.3(TMEM237):c.*3697G>A
|
rs761856568
|
0.00003
|
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr)
|
rs776825848
|
0.00003
|
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
|
rs957203033
|
0.00003
|
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
|
rs972949531
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
|
rs771350638
|
0.00003
|
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
|
rs772074875
|
0.00003
|
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
|
rs768672107
|
0.00003
|
NM_001044385.3(TMEM237):c.869+4A>G
|
rs771107990
|
0.00003
|
NM_001077418.2(TMEM231):c.-46G>A
|
rs752769188
|
0.00003
|
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)
|
rs372775075
|
0.00003
|
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn)
|
rs769321473
|
0.00003
|
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln)
|
rs1033608835
|
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_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)
|
rs200480007
|
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_001134831.2(AHI1):c.*1684T>C
|
rs75518881
|
0.00003
|
NM_001134831.2(AHI1):c.*387T>G
|
rs886061107
|
0.00003
|
NM_001134831.2(AHI1):c.*588A>G
|
rs555215397
|
0.00003
|
NM_001134831.2(AHI1):c.-347C>T
|
rs1456963108
|
0.00003
|
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=)
|
rs548478362
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)
|
rs200017073
|
0.00003
|
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
|
rs200355875
|
0.00003
|
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr)
|
rs367875262
|
0.00003
|
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala)
|
rs201691998
|
0.00003
|
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile)
|
rs891027780
|
0.00003
|
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys)
|
rs928788426
|
0.00003
|
NM_001173990.3(TMEM216):c.*93T>C
|
rs746881860
|
0.00003
|
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)
|
rs35314485
|
0.00003
|
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)
|
rs886063858
|
0.00003
|
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu)
|
rs1432380664
|
0.00003
|
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser)
|
rs1168640996
|
0.00003
|
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro)
|
rs375472516
|
0.00003
|
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn)
|
rs556030955
|
0.00003
|
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr)
|
rs752363556
|
0.00003
|
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln)
|
rs372212501
|
0.00003
|
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn)
|
rs770913768
|
0.00003
|
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr)
|
rs767605168
|
0.00003
|
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val)
|
rs777965178
|
0.00003
|
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg)
|
rs767855931
|
0.00003
|
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala)
|
rs962979142
|
0.00003
|
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys)
|
rs375085808
|
0.00003
|
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr)
|
rs773960033
|
0.00003
|
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met)
|
rs747277541
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
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.2672A>G (p.His891Arg)
|
rs774004189
|
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_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly)
|
rs758963962
|
0.00003
|
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)
|
rs1379770755
|
0.00003
|
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)
|
rs751808973
|
0.00003
|
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg)
|
rs763466980
|
0.00003
|
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)
|
rs200044412
|
0.00003
|
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys)
|
rs376969878
|
0.00003
|
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)
|
rs199637120
|
0.00003
|
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)
|
rs774711788
|
0.00003
|
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr)
|
rs143933558
|
0.00003
|
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val)
|
rs775268714
|
0.00003
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys)
|
rs759265787
|
0.00003
|
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met)
|
rs375847469
|
0.00003
|
NM_001382391.1(CSPP1):c.1975+4C>T
|
rs779380282
|
0.00003
|
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln)
|
rs763911288
|
0.00003
|
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln)
|
rs780070875
|
0.00003
|
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys)
|
rs374169543
|
0.00003
|
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr)
|
rs767140972
|
0.00003
|
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val)
|
rs199738369
|
0.00003
|
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)
|
rs201629827
|
0.00003
|
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe)
|
rs1421998303
|
0.00003
|
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys)
|
rs781579090
|
0.00003
|
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys)
|
rs770271054
|
0.00003
|
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val)
|
rs199831541
|
0.00003
|
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser)
|
rs769726340
|
0.00003
|
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu)
|
rs765341695
|
0.00003
|
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro)
|
rs1249405862
|
0.00003
|
NM_001510.4(GRID2):c.899G>A (p.Arg300His)
|
rs201635818
|
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_003383.5(VLDLR):c.2222A>G (p.Asn741Ser)
|
rs371150001
|
0.00003
|
NM_003383.5(VLDLR):c.692G>A (p.Arg231His)
|
rs767529669
|
0.00003
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs376671881
|
0.00003
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360
|
0.00003
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)
|
rs756919296
|
0.00003
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
NM_003640.5(ELP1):c.2386A>G (p.Met796Val)
|
rs748482757
|
0.00003
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00003
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431
|
0.00003
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs200941360
|
0.00003
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369
|
0.00003
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046
|
0.00003
|
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)
|
rs769146127
|
0.00003
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00003
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00003
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
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.2347C>T (p.Arg783Trp)
|
rs200514577
|
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.5939C>A (p.Ala1980Glu)
|
rs750934185
|
0.00003
|
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)
|
rs778388054
|
0.00003
|
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)
|
rs886043128
|
0.00003
|
NM_014053.4(FLVCR1):c.*1174C>T
|
rs886045936
|
0.00003
|
NM_014053.4(FLVCR1):c.*1543C>G
|
rs1665346561
|
0.00003
|
NM_014053.4(FLVCR1):c.*1548T>C
|
rs1572032740
|
0.00003
|
NM_014053.4(FLVCR1):c.*2371A>G
|
rs886045940
|
0.00003
|
NM_014053.4(FLVCR1):c.*3739G>A
|
rs865806240
|
0.00003
|
NM_014053.4(FLVCR1):c.*839T>G
|
rs886045932
|
0.00003
|
NM_014053.4(FLVCR1):c.*923T>C
|
rs886045935
|
0.00003
|
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=)
|
rs886045923
|
0.00003
|
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys)
|
rs142749772
|
0.00003
|
NM_014363.6(SACS):c.*882A>C
|
rs886050069
|
0.00003
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr)
|
rs767281295
|
0.00003
|
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala)
|
rs767704103
|
0.00003
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met)
|
rs1252737332
|
0.00003
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)
|
rs760505057
|
0.00003
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.345+14C>T
|
rs538944334
|
0.00003
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
0.00003
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)
|
rs764702321
|
0.00003
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
NM_014363.6(SACS):c.8693G>A (p.Arg2898His)
|
rs201977288
|
0.00003
|
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
|
rs139670073
|
0.00003
|
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)
|
rs201899988
|
0.00003
|
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu)
|
rs779195622
|
0.00003
|
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile)
|
rs1211858750
|
0.00003
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
NM_015046.7(SETX):c.267A>G (p.Ile89Met)
|
rs767232097
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00003
|
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)
|
rs771969117
|
0.00003
|
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)
|
rs746525639
|
0.00003
|
NM_015046.7(SETX):c.6396+8G>C
|
rs752365500
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)
|
rs138538492
|
0.00003
|
NM_015046.7(SETX):c.7851G>A (p.Thr2617=)
|
rs747616517
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
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_015272.5(RPGRIP1L):c.*119C>T
|
rs886052091
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)
|
rs750446830
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala)
|
rs202201818
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)
|
rs766404857
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
|
rs145572901
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg)
|
rs780023355
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)
|
rs372404481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)
|
rs1030543863
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)
|
rs142387463
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)
|
rs536037779
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)
|
rs377402117
|
0.00003
|
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
|
rs151174849
|
0.00003
|
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr)
|
rs772520453
|
0.00003
|
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)
|
rs769010867
|
0.00003
|
NM_016169.4(SUFU):c.*2643C>G
|
rs886046663
|
0.00003
|
NM_016169.4(SUFU):c.*376G>A
|
rs866120174
|
0.00003
|
NM_016169.4(SUFU):c.*915G>C
|
rs886046656
|
0.00003
|
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)
|
rs746448939
|
0.00003
|
NM_016169.4(SUFU):c.109A>G (p.Ile37Val)
|
rs745793517
|
0.00003
|
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)
|
rs142672533
|
0.00003
|
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)
|
rs374946819
|
0.00003
|
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
|
rs200699154
|
0.00003
|
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr)
|
rs767667847
|
0.00003
|
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp)
|
rs750042007
|
0.00003
|
NM_016373.4(WWOX):c.167C>T (p.Ala56Val)
|
rs530912550
|
0.00003
|
NM_016373.4(WWOX):c.251C>G (p.Thr84Ser)
|
rs757145186
|
0.00003
|
NM_016373.4(WWOX):c.563G>A (p.Arg188His)
|
rs771163284
|
0.00003
|
NM_016373.4(WWOX):c.746G>A (p.Arg249His)
|
rs756703833
|
0.00003
|
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu)
|
rs770023814
|
0.00003
|
NM_016373.4(WWOX):c.977T>C (p.Met326Thr)
|
rs371996496
|
0.00003
|
NM_016373.4(WWOX):c.995A>C (p.His332Pro)
|
rs775584864
|
0.00003
|
NM_016464.5(TMEM138):c.*264C>G
|
rs886048409
|
0.00003
|
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala)
|
rs755251825
|
0.00003
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
0.00003
|
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp)
|
rs750788154
|
0.00003
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)
|
rs772719574
|
0.00003
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
NM_018075.5(ANO10):c.1401G>T (p.Val467=)
|
rs149580265
|
0.00003
|
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val)
|
rs150026260
|
0.00003
|
NM_018075.5(ANO10):c.1710C>T (p.Asn570=)
|
rs142862162
|
0.00003
|
NM_018319.4(TDP1):c.*264G>T
|
rs779122283
|
0.00003
|
NM_018319.4(TDP1):c.*631C>T
|
rs1027214918
|
0.00003
|
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)
|
rs772139596
|
0.00003
|
NM_018319.4(TDP1):c.353C>T (p.Ala118Val)
|
rs150113775
|
0.00003
|
NM_018319.4(TDP1):c.716A>G (p.His239Arg)
|
rs750038981
|
0.00003
|
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu)
|
rs142600338
|
0.00003
|
NM_018718.3(CEP41):c.*2669A>G
|
rs905679390
|
0.00003
|
NM_018718.3(CEP41):c.*2849A>G
|
rs1288708394
|
0.00003
|
NM_018718.3(CEP41):c.*3040G>A
|
rs566129615
|
0.00003
|
NM_018718.3(CEP41):c.*3044A>G
|
rs886061991
|
0.00003
|
NM_018718.3(CEP41):c.*333C>T
|
rs886062000
|
0.00003
|
NM_018718.3(CEP41):c.*4007C>T
|
rs782719854
|
0.00003
|
NM_018718.3(CEP41):c.*578T>C
|
rs782132140
|
0.00003
|
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
|
rs782131552
|
0.00003
|
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
|
rs138907207
|
0.00003
|
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
|
rs782769549
|
0.00003
|
NM_018718.3(CEP41):c.536G>A (p.Arg179His)
|
rs140259402
|
0.00003
|
NM_018718.3(CEP41):c.725G>A (p.Arg242His)
|
rs191246968
|
0.00003
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)
|
rs782105300
|
0.00003
|
NM_020247.5(COQ8A):c.*631C>G
|
rs886046073
|
0.00003
|
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg)
|
rs759470563
|
0.00003
|
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val)
|
rs773489358
|
0.00003
|
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His)
|
rs767899984
|
0.00003
|
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile)
|
rs778967806
|
0.00003
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083
|
0.00003
|
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln)
|
rs761095369
|
0.00003
|
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys)
|
rs779649580
|
0.00003
|
NM_022464.5(SIL1):c.355C>G (p.Leu119Val)
|
rs758512287
|
0.00003
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
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_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
0.00003
|
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)
|
rs761111801
|
0.00003
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
0.00003
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)
|
rs371737956
|
0.00003
|
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)
|
rs572443869
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
|
rs754462052
|
0.00003
|
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)
|
rs754398792
|
0.00003
|
NM_032856.5(WDR73):c.518-10G>A
|
rs769933431
|
0.00003
|
NM_033064.5(ATCAY):c.*1217A>C
|
rs1459765640
|
0.00003
|
NM_033064.5(ATCAY):c.*3018C>T
|
rs887057996
|
0.00003
|
NM_033064.5(ATCAY):c.*420C>T
|
rs1044796308
|
0.00003
|
NM_033064.5(ATCAY):c.*512G>A
|
rs964128076
|
0.00003
|
NM_033064.5(ATCAY):c.-170C>A
|
rs1034699695
|
0.00003
|
NM_033064.5(ATCAY):c.1002C>T (p.Ser334=)
|
rs767813874
|
0.00003
|
NM_033064.5(ATCAY):c.283G>A (p.Val95Met)
|
rs1381590154
|
0.00003
|
NM_033064.5(ATCAY):c.568G>A (p.Ala190Thr)
|
rs537155754
|
0.00003
|
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)
|
rs758803102
|
0.00003
|
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys)
|
rs375719305
|
0.00003
|
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly)
|
rs372886148
|
0.00003
|
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)
|
rs766782158
|
0.00003
|
NM_173500.4(TTBK2):c.*598G>A
|
rs774535951
|
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_182961.4(SYNE1):c.-361G>T
|
rs886061221
|
0.00003
|
NM_182961.4(SYNE1):c.10188T>G (p.Asp3396Glu)
|
rs374839445
|
0.00003
|
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln)
|
rs139691734
|
0.00003
|
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile)
|
rs755180412
|
0.00003
|
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln)
|
rs192623867
|
0.00003
|
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp)
|
rs777447487
|
0.00003
|
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)
|
rs201487756
|
0.00003
|
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln)
|
rs774322624
|
0.00003
|
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys)
|
rs879779013
|
0.00003
|
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=)
|
rs767967824
|
0.00003
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln)
|
rs771461121
|
0.00003
|
NM_182961.4(SYNE1):c.12351G>A (p.Thr4117=)
|
rs1272129870
|
0.00003
|
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu)
|
rs779969031
|
0.00003
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His)
|
rs768085752
|
0.00003
|
NM_182961.4(SYNE1):c.13727A>G (p.His4576Arg)
|
rs375344467
|
0.00003
|
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His)
|
rs748256440
|
0.00003
|
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His)
|
rs199673397
|
0.00003
|
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)
|
rs753473819
|
0.00003
|
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn)
|
rs762502490
|
0.00003
|
NM_182961.4(SYNE1):c.14990G>A (p.Arg4997Lys)
|
rs755654863
|
0.00003
|
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly)
|
rs375432465
|
0.00003
|
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg)
|
rs797046023
|
0.00003
|
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala)
|
rs886044412
|
0.00003
|
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser)
|
rs374220794
|
0.00003
|
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro)
|
rs373679435
|
0.00003
|
NM_182961.4(SYNE1):c.17270C>T (p.Ala5757Val)
|
rs766395351
|
0.00003
|
NM_182961.4(SYNE1):c.17656G>A (p.Ala5886Thr)
|
rs774189380
|
0.00003
|
NM_182961.4(SYNE1):c.17758G>A (p.Ala5920Thr)
|
rs765300968
|
0.00003
|
NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys)
|
rs759380758
|
0.00003
|
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln)
|
rs777432650
|
0.00003
|
NM_182961.4(SYNE1):c.18460G>T (p.Gly6154Cys)
|
rs528094877
|
0.00003
|
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu)
|
rs558425673
|
0.00003
|
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser)
|
rs149624155
|
0.00003
|
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp)
|
rs201873107
|
0.00003
|
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys)
|
rs551488589
|
0.00003
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys)
|
rs758182381
|
0.00003
|
NM_182961.4(SYNE1):c.19022G>C (p.Gly6341Ala)
|
rs769384397
|
0.00003
|
NM_182961.4(SYNE1):c.19138G>A (p.Glu6380Lys)
|
rs758159968
|
0.00003
|
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln)
|
rs768605521
|
0.00003
|
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr)
|
rs763051329
|
0.00003
|
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met)
|
rs553508431
|
0.00003
|
NM_182961.4(SYNE1):c.19807G>C (p.Glu6603Gln)
|
rs140360127
|
0.00003
|
NM_182961.4(SYNE1):c.20164G>A (p.Glu6722Lys)
|
rs370571896
|
0.00003
|
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His)
|
rs139384691
|
0.00003
|
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His)
|
rs767684007
|
0.00003
|
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=)
|
rs762665527
|
0.00003
|
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu)
|
rs139062689
|
0.00003
|
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu)
|
rs766914765
|
0.00003
|
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly)
|
rs759479600
|
0.00003
|
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg)
|
rs764715827
|
0.00003
|
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile)
|
rs777920461
|
0.00003
|
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)
|
rs752057121
|
0.00003
|
NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys)
|
rs549357903
|
0.00003
|
NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp)
|
rs755302191
|
0.00003
|
NM_182961.4(SYNE1):c.22807C>G (p.Leu7603Val)
|
rs372246112
|
0.00003
|
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu)
|
rs749743156
|
0.00003
|
NM_182961.4(SYNE1):c.23137C>T (p.Arg7713Cys)
|
rs761198027
|
0.00003
|
NM_182961.4(SYNE1):c.23582A>G (p.Lys7861Arg)
|
rs371656793
|
0.00003
|
NM_182961.4(SYNE1):c.23593C>T (p.Arg7865Trp)
|
rs749900550
|
0.00003
|
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val)
|
rs1055043180
|
0.00003
|
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr)
|
rs780029496
|
0.00003
|
NM_182961.4(SYNE1):c.2394+5G>A
|
rs199933019
|
0.00003
|
NM_182961.4(SYNE1):c.24038A>G (p.Asp8013Gly)
|
rs766207775
|
0.00003
|
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=)
|
rs185088779
|
0.00003
|
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)
|
rs375917264
|
0.00003
|
NM_182961.4(SYNE1):c.24226T>C (p.Cys8076Arg)
|
rs756023993
|
0.00003
|
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys)
|
rs373016793
|
0.00003
|
NM_182961.4(SYNE1):c.24499A>G (p.Ile8167Val)
|
rs147285387
|
0.00003
|
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)
|
rs772761179
|
0.00003
|
NM_182961.4(SYNE1):c.2474C>T (p.Thr825Met)
|
rs777634676
|
0.00003
|
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu)
|
rs188852595
|
0.00003
|
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr)
|
rs886043013
|
0.00003
|
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)
|
rs527527845
|
0.00003
|
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
|
rs748328529
|
0.00003
|
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=)
|
rs758276004
|
0.00003
|
NM_182961.4(SYNE1):c.2759A>G (p.Lys920Arg)
|
rs1395937709
|
0.00003
|
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn)
|
rs990137456
|
0.00003
|
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala)
|
rs764928878
|
0.00003
|
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe)
|
rs886061212
|
0.00003
|
NM_182961.4(SYNE1):c.3691T>C (p.Phe1231Leu)
|
rs146403390
|
0.00003
|
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala)
|
rs141164314
|
0.00003
|
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe)
|
rs544182159
|
0.00003
|
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His)
|
rs142705233
|
0.00003
|
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys)
|
rs373642960
|
0.00003
|
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
|
rs138691290
|
0.00003
|
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys)
|
rs148885424
|
0.00003
|
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg)
|
rs567913785
|
0.00003
|
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys)
|
rs184779168
|
0.00003
|
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
|
rs376518010
|
0.00003
|
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile)
|
rs372524102
|
0.00003
|
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr)
|
rs764200857
|
0.00003
|
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His)
|
rs759461786
|
0.00003
|
NM_182961.4(SYNE1):c.7324C>A (p.Leu2442Ile)
|
rs747633088
|
0.00003
|
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=)
|
rs1268841274
|
0.00003
|
NM_182961.4(SYNE1):c.8056G>A (p.Gly2686Ser)
|
rs146916975
|
0.00003
|
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr)
|
rs371025400
|
0.00003
|
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln)
|
rs747634832
|
0.00003
|
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)
|
rs1024177161
|
0.00003
|
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met)
|
rs548283137
|
0.00003
|
NM_198994.3(TGM6):c.1089T>C (p.Ser363=)
|
rs762242728
|
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_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000370.3(TTPA):c.*1407G>A
|
rs1805273393
|
0.00002
|
NM_000370.3(TTPA):c.*286C>G
|
rs886063068
|
0.00002
|
NM_000370.3(TTPA):c.202C>A (p.Arg68=)
|
rs973874631
|
0.00002
|
NM_000370.3(TTPA):c.522C>T (p.Ser174=)
|
rs772020906
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn)
|
rs761448855
|
0.00002
|
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile)
|
rs751704816
|
0.00002
|
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe)
|
rs1215745374
|
0.00002
|
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln)
|
rs201107032
|
0.00002
|
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu)
|
rs781360671
|
0.00002
|
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn)
|
rs377290147
|
0.00002
|
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.518T>C (p.Leu173Pro)
|
rs1378044084
|
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_000784.4(CYP27A1):c.919G>T (p.Val307Leu)
|
rs779794737
|
0.00002
|
NM_001020658.2(PUM1):c.131C>T (p.Ser44Leu)
|
rs528903842
|
0.00002
|
NM_001044385.3(TMEM237):c.137-3T>C
|
rs540193518
|
0.00002
|
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
|
rs1269827788
|
0.00002
|
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser)
|
rs372581479
|
0.00002
|
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu)
|
rs17856844
|
0.00002
|
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
|
rs754056989
|
0.00002
|
NM_001077418.3(TMEM231):c.-17G>A
|
rs768513169
|
0.00002
|
NM_001077418.3(TMEM231):c.139+17C>T
|
rs759518508
|
0.00002
|
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)
|
rs771783989
|
0.00002
|
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)
|
rs753709447
|
0.00002
|
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)
|
rs775968168
|
0.00002
|
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=)
|
rs774761408
|
0.00002
|
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)
|
rs768932063
|
0.00002
|
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val)
|
rs778298588
|
0.00002
|
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys)
|
rs374279951
|
0.00002
|
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)
|
rs775383043
|
0.00002
|
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu)
|
rs761280513
|
0.00002
|
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)
|
rs770715825
|
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_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)
|
rs755592231
|
0.00002
|
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)
|
rs1266229950
|
0.00002
|
NM_001128178.3(NPHP1):c.1643-3C>T
|
rs202167187
|
0.00002
|
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)
|
rs753549193
|
0.00002
|
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys)
|
rs762244069
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln)
|
rs751387472
|
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_001134831.2(AHI1):c.*1426A>T
|
rs886061101
|
0.00002
|
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg)
|
rs539194432
|
0.00002
|
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
|
rs371835751
|
0.00002
|
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser)
|
rs773892320
|
0.00002
|
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp)
|
rs748010693
|
0.00002
|
NM_001134831.2(AHI1):c.191C>A (p.Pro64His)
|
rs574938408
|
0.00002
|
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala)
|
rs372012542
|
0.00002
|
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln)
|
rs775785006
|
0.00002
|
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg)
|
rs1387769677
|
0.00002
|
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu)
|
rs1170550561
|
0.00002
|
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)
|
rs750383545
|
0.00002
|
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala)
|
rs1380307778
|
0.00002
|
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln)
|
rs372888581
|
0.00002
|
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=)
|
rs201791936
|
0.00002
|
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu)
|
rs773359044
|
0.00002
|
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg)
|
rs1192775388
|
0.00002
|
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu)
|
rs746252411
|
0.00002
|
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)
|
rs886540540
|
0.00002
|
NM_001173990.3(TMEM216):c.*335G>A
|
rs886048414
|
0.00002
|
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)
|
rs1441727203
|
0.00002
|
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)
|
rs147267631
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu)
|
rs1251319519
|
0.00002
|
NM_001244189.2(KIAA0586):c.9+1G>A
|
rs1490434047
|
0.00002
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
0.00002
|
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala)
|
rs780301208
|
0.00002
|
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His)
|
rs749710241
|
0.00002
|
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys)
|
rs1040832003
|
0.00002
|
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg)
|
rs758553529
|
0.00002
|
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg)
|
rs372160214
|
0.00002
|
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp)
|
rs770532816
|
0.00002
|
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn)
|
rs745459956
|
0.00002
|
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu)
|
rs762324359
|
0.00002
|
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val)
|
rs752597351
|
0.00002
|
NM_001329943.3(KIAA0586):c.2634+4A>G
|
rs1373493143
|
0.00002
|
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn)
|
rs780403471
|
0.00002
|
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr)
|
rs757075176
|
0.00002
|
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val)
|
rs778611816
|
0.00002
|
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser)
|
rs1287641719
|
0.00002
|
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly)
|
rs368583200
|
0.00002
|
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn)
|
rs780444812
|
0.00002
|
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly)
|
rs747213685
|
0.00002
|
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala)
|
rs773967297
|
0.00002
|
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val)
|
rs752970542
|
0.00002
|
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg)
|
rs554032625
|
0.00002
|
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser)
|
rs776582851
|
0.00002
|
NM_001329943.3(KIAA0586):c.411-1420A>G
|
rs1037899594
|
0.00002
|
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val)
|
rs890327400
|
0.00002
|
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln)
|
rs746312329
|
0.00002
|
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser)
|
rs757161449
|
0.00002
|
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile)
|
rs779264142
|
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.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.1671C>T (p.Tyr557=)
|
rs886058613
|
0.00002
|
NM_001378452.1(ITPR1):c.1714-12C>T
|
rs765853714
|
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.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_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
0.00002
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
|
rs541135799
|
0.00002
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp)
|
rs369648324
|
0.00002
|
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)
|
rs748886997
|
0.00002
|
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
|
rs745599580
|
0.00002
|
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln)
|
rs764928165
|
0.00002
|
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)
|
rs760907112
|
0.00002
|
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr)
|
rs149488365
|
0.00002
|
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala)
|
rs533327313
|
0.00002
|
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr)
|
rs373749366
|
0.00002
|
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr)
|
rs781313362
|
0.00002
|
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp)
|
rs746165769
|
0.00002
|
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp)
|
rs369228037
|
0.00002
|
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr)
|
rs751572039
|
0.00002
|
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His)
|
rs376724794
|
0.00002
|
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His)
|
rs775629891
|
0.00002
|
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu)
|
rs755275549
|
0.00002
|
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser)
|
rs200930857
|
0.00002
|
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp)
|
rs759630451
|
0.00002
|
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter)
|
rs201261521
|
0.00002
|
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg)
|
rs527426163
|
0.00002
|
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His)
|
rs1386679081
|
0.00002
|
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser)
|
rs765332591
|
0.00002
|
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys)
|
rs749026327
|
0.00002
|
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys)
|
rs114953032
|
0.00002
|
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His)
|
rs781737308
|
0.00002
|
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg)
|
rs377496424
|
0.00002
|
NM_001386140.1(MTTP):c.*38G>A
|
rs561157874
|
0.00002
|
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu)
|
rs756155398
|
0.00002
|
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu)
|
rs751715076
|
0.00002
|
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp)
|
rs1419028802
|
0.00002
|
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe)
|
rs146548751
|
0.00002
|
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg)
|
rs759706918
|
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_003047.5(SLC9A1):c.856G>A (p.Val286Met)
|
rs764274123
|
0.00002
|
NM_003383.5(VLDLR):c.*192C>T
|
rs763576733
|
0.00002
|
NM_003383.5(VLDLR):c.*21C>T
|
rs776834603
|
0.00002
|
NM_003383.5(VLDLR):c.-121C>T
|
rs886063803
|
0.00002
|
NM_003383.5(VLDLR):c.-154C>G
|
rs985479340
|
0.00002
|
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr)
|
rs778029251
|
0.00002
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs770333327
|
0.00002
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs769108524
|
0.00002
|
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)
|
rs745948468
|
0.00002
|
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val)
|
rs772705478
|
0.00002
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
0.00002
|
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)
|
rs201601641
|
0.00002
|
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys)
|
rs1181862976
|
0.00002
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985
|
0.00002
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs191464698
|
0.00002
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635
|
0.00002
|
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)
|
rs750563722
|
0.00002
|
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)
|
rs147069577
|
0.00002
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs201168521
|
0.00002
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs558588647
|
0.00002
|
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala)
|
rs774585995
|
0.00002
|
NM_003640.5(ELP1):c.866T>C (p.Val289Ala)
|
rs890474380
|
0.00002
|
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
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_004715.5(CTDP1):c.440C>T (p.Thr147Met)
|
rs143464787
|
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.3048C>T (p.Gly1016=)
|
rs540897209
|
0.00002
|
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr)
|
rs765561071
|
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_007254.4(PNKP):c.811G>A (p.Glu271Lys)
|
rs1028247558
|
0.00002
|
NM_014053.3(FLVCR1):c.-181A>G
|
rs886045921
|
0.00002
|
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=)
|
rs550517136
|
0.00002
|
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu)
|
rs766483912
|
0.00002
|
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn)
|
rs755239032
|
0.00002
|
NM_014363.6(SACS):c.*218T>C
|
rs907847986
|
0.00002
|
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
|
rs757255802
|
0.00002
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr)
|
rs781590547
|
0.00002
|
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
|
rs774463808
|
0.00002
|
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
|
rs753844954
|
0.00002
|
NM_014363.6(SACS):c.11901A>G (p.Gln3967=)
|
rs572068106
|
0.00002
|
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg)
|
rs747314113
|
0.00002
|
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
|
rs753511073
|
0.00002
|
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
|
rs375722463
|
0.00002
|
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile)
|
rs748972179
|
0.00002
|
NM_014363.6(SACS):c.1608G>A (p.Pro536=)
|
rs745730439
|
0.00002
|
NM_014363.6(SACS):c.2403A>G (p.Pro801=)
|
rs758503842
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00002
|
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
|
rs200831217
|
0.00002
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
0.00002
|
NM_014363.6(SACS):c.494C>T (p.Thr165Ile)
|
rs1419027987
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)
|
rs763496360
|
0.00002
|
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)
|
rs757576348
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)
|
rs776693219
|
0.00002
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)
|
rs754906806
|
0.00002
|
NM_014363.6(SACS):c.7171G>A (p.Val2391Met)
|
rs760087813
|
0.00002
|
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)
|
rs779973547
|
0.00002
|
NM_014363.6(SACS):c.7454A>T (p.His2485Leu)
|
rs1420170258
|
0.00002
|
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)
|
rs377626385
|
0.00002
|
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)
|
rs200106708
|
0.00002
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
0.00002
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)
|
rs761690372
|
0.00002
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
NM_015046.7(SETX):c.*1442T>G
|
rs886063549
|
0.00002
|
NM_015046.7(SETX):c.*491G>A
|
rs1285017063
|
0.00002
|
NM_015046.7(SETX):c.*666C>G
|
rs886063551
|
0.00002
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
0.00002
|
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp)
|
rs777081940
|
0.00002
|
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp)
|
rs190841601
|
0.00002
|
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)
|
rs778882347
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.343C>G (p.Leu115Val)
|
rs538372427
|
0.00002
|
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)
|
rs138167195
|
0.00002
|
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
|
rs771168824
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr)
|
rs749395151
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu)
|
rs370368422
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
|
rs141497098
|
0.00002
|
NM_015046.7(SETX):c.7287+9C>A
|
rs769170686
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys)
|
rs200732212
|
0.00002
|
NM_015272.5(RPGRIP1L):c.*1206C>T
|
rs1437795784
|
0.00002
|
NM_015272.5(RPGRIP1L):c.*822A>G
|
rs554221378
|
0.00002
|
NM_015272.5(RPGRIP1L):c.-7-10T>C
|
rs886052099
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)
|
rs371028848
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)
|
rs201131571
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)
|
rs759934290
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)
|
rs146484603
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)
|
rs376330325
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3835+3A>G
|
rs769218955
|
0.00002
|
NM_016169.4(SUFU):c.*1908C>G
|
rs764234968
|
0.00002
|
NM_016169.4(SUFU):c.*3025T>C
|
rs896765914
|
0.00002
|
NM_016169.4(SUFU):c.*844G>A
|
rs1032441274
|
0.00002
|
NM_016169.4(SUFU):c.1010A>G (p.His337Arg)
|
rs377274250
|
0.00002
|
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys)
|
rs766508656
|
0.00002
|
NM_016169.4(SUFU):c.1280A>G (p.His427Arg)
|
rs771305734
|
0.00002
|
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg)
|
rs772598739
|
0.00002
|
NM_016169.4(SUFU):c.169A>G (p.Ile57Val)
|
rs377614167
|
0.00002
|
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser)
|
rs141532626
|
0.00002
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln)
|
rs199673680
|
0.00002
|
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)
|
rs766666529
|
0.00002
|
NM_016169.4(SUFU):c.682A>G (p.Ile228Val)
|
rs555976050
|
0.00002
|
NM_016169.4(SUFU):c.703A>G (p.Ile235Val)
|
rs144666812
|
0.00002
|
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp)
|
rs771255988
|
0.00002
|
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)
|
rs770246373
|
0.00002
|
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)
|
rs376797758
|
0.00002
|
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys)
|
rs988284678
|
0.00002
|
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys)
|
rs770155582
|
0.00002
|
NM_016373.4(WWOX):c.106A>G (p.Asn36Asp)
|
rs1385155926
|
0.00002
|
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu)
|
rs1474278988
|
0.00002
|
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu)
|
rs1484856529
|
0.00002
|
NM_016373.4(WWOX):c.282G>A (p.Val94=)
|
rs771301969
|
0.00002
|
NM_016373.4(WWOX):c.410-3T>C
|
rs201178351
|
0.00002
|
NM_016373.4(WWOX):c.419C>A (p.Thr140Asn)
|
rs750464034
|
0.00002
|
NM_016373.4(WWOX):c.439C>T (p.His147Tyr)
|
rs746480783
|
0.00002
|
NM_016373.4(WWOX):c.440A>G (p.His147Arg)
|
rs188859796
|
0.00002
|
NM_016373.4(WWOX):c.481G>A (p.Ala161Thr)
|
rs779724017
|
0.00002
|
NM_016373.4(WWOX):c.517-108243C>T
|
rs551189075
|
0.00002
|
NM_016373.4(WWOX):c.658C>G (p.Leu220Val)
|
rs770774574
|
0.00002
|
NM_016373.4(WWOX):c.697C>A (p.His233Asn)
|
rs757863128
|
0.00002
|
NM_016373.4(WWOX):c.748T>A (p.Ser250Thr)
|
rs941156863
|
0.00002
|
NM_016373.4(WWOX):c.791+4G>T
|
rs766952918
|
0.00002
|
NM_016373.4(WWOX):c.791+5G>C
|
rs756074406
|
0.00002
|
NM_016373.4(WWOX):c.919C>G (p.Leu307Val)
|
rs200320711
|
0.00002
|
NM_016373.4(WWOX):c.962T>C (p.Val321Ala)
|
rs774783221
|
0.00002
|
NM_016373.4(WWOX):c.966T>A (p.His322Gln)
|
rs750797952
|
0.00002
|
NM_016373.4(WWOX):c.997C>T (p.Arg333Cys)
|
rs369281766
|
0.00002
|
NM_016464.5(TMEM138):c.*548G>A
|
rs1565080891
|
0.00002
|
NM_016464.5(TMEM138):c.136G>C (p.Asp46His)
|
rs375503806
|
0.00002
|
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys)
|
rs202210746
|
0.00002
|
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)
|
rs557678962
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=)
|
rs762529599
|
0.00002
|
NM_018075.4(ANO10):c.-140G>A
|
rs886058485
|
0.00002
|
NM_018075.5(ANO10):c.1643C>A (p.Pro548His)
|
rs538680619
|
0.00002
|
NM_018319.4(TDP1):c.-232A>C
|
rs886050882
|
0.00002
|
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys)
|
rs369742694
|
0.00002
|
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu)
|
rs113382706
|
0.00002
|
NM_018718.3(CEP41):c.*2605C>T
|
rs886061992
|
0.00002
|
NM_018718.3(CEP41):c.*277A>G
|
rs886062001
|
0.00002
|
NM_018718.3(CEP41):c.*4417G>A
|
rs886061988
|
0.00002
|
NM_018718.3(CEP41):c.*4464T>C
|
rs886061987
|
0.00002
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
|
rs201490201
|
0.00002
|
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
|
rs139909606
|
0.00002
|
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
|
rs781914996
|
0.00002
|
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe)
|
rs782265732
|
0.00002
|
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
|
rs527896814
|
0.00002
|
NM_018718.3(CEP41):c.664A>G (p.Ile222Val)
|
rs560824415
|
0.00002
|
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu)
|
rs782241458
|
0.00002
|
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu)
|
rs782704918
|
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_020247.5(COQ8A):c.*613G>A
|
rs537646948
|
0.00002
|
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile)
|
rs1473665143
|
0.00002
|
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys)
|
rs886046066
|
0.00002
|
NM_020247.5(COQ8A):c.1257-9C>T
|
rs200440257
|
0.00002
|
NM_020247.5(COQ8A):c.687G>A (p.Leu229=)
|
rs752409331
|
0.00002
|
NM_021830.5(TWNK):c.*552G>C
|
rs111434414
|
0.00002
|
NM_021830.5(TWNK):c.*769G>A
|
rs919556945
|
0.00002
|
NM_021830.5(TWNK):c.922T>C (p.Leu308=)
|
rs754389465
|
0.00002
|
NM_024411.5(PDYN):c.*827A>G
|
rs886056530
|
0.00002
|
NM_024411.5(PDYN):c.724G>A (p.Glu242Lys)
|
rs1181111571
|
0.00002
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp)
|
rs372963403
|
0.00002
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp)
|
rs750466529
|
0.00002
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
NM_025114.4(CEP290):c.4030-14A>G
|
rs910563325
|
0.00002
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
|
rs752046733
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
NM_025114.4(CEP290):c.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu)
|
rs887302155
|
0.00002
|
NM_033064.5(ATCAY):c.*1167G>A
|
rs751398427
|
0.00002
|
NM_033064.5(ATCAY):c.*1276G>A
|
rs974409532
|
0.00002
|
NM_033064.5(ATCAY):c.544+6dup
|
rs749475336
|
0.00002
|
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
|
rs1353417724
|
0.00002
|
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser)
|
rs774643105
|
0.00002
|
NM_152703.5(SAMD9L):c.3893G>A (p.Arg1298His)
|
rs1010548594
|
0.00002
|
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln)
|
rs776677392
|
0.00002
|
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
|
rs149475825
|
0.00002
|
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val)
|
rs758944470
|
0.00002
|
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys)
|
rs768183184
|
0.00002
|
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly)
|
rs115766095
|
0.00002
|
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp)
|
rs556044910
|
0.00002
|
NM_173500.4(TTBK2):c.-282A>C
|
rs949605219
|
0.00002
|
NM_182961.4(SYNE1):c.10039G>A (p.Val3347Ile)
|
rs762448899
|
0.00002
|
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)
|
rs748499952
|
0.00002
|
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr)
|
rs1489130675
|
0.00002
|
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys)
|
rs531503159
|
0.00002
|
NM_182961.4(SYNE1):c.10568G>A (p.Gly3523Asp)
|
rs766218121
|
0.00002
|
NM_182961.4(SYNE1):c.10624T>C (p.Cys3542Arg)
|
rs751032216
|
0.00002
|
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys)
|
rs371209532
|
0.00002
|
NM_182961.4(SYNE1):c.11086C>G (p.Gln3696Glu)
|
rs377095831
|
0.00002
|
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser)
|
rs757408388
|
0.00002
|
NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys)
|
rs143519691
|
0.00002
|
NM_182961.4(SYNE1):c.11609A>G (p.Glu3870Gly)
|
rs771572017
|
0.00002
|
NM_182961.4(SYNE1):c.11692C>A (p.Gln3898Lys)
|
rs768435800
|
0.00002
|
NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg)
|
rs771294384
|
0.00002
|
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn)
|
rs148782440
|
0.00002
|
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp)
|
rs745342797
|
0.00002
|
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val)
|
rs560488372
|
0.00002
|
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)
|
rs201449723
|
0.00002
|
NM_182961.4(SYNE1):c.12704A>G (p.Asp4235Gly)
|
rs964082904
|
0.00002
|
NM_182961.4(SYNE1):c.1305C>T (p.His435=)
|
rs539575253
|
0.00002
|
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys)
|
rs777182389
|
0.00002
|
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg)
|
rs763501028
|
0.00002
|
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)
|
rs368709678
|
0.00002
|
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly)
|
rs777385898
|
0.00002
|
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile)
|
rs374596074
|
0.00002
|
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)
|
rs368490158
|
0.00002
|
NM_182961.4(SYNE1):c.14458T>A (p.Ser4820Thr)
|
rs999907923
|
0.00002
|
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg)
|
rs577675508
|
0.00002
|
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His)
|
rs369433602
|
0.00002
|
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His)
|
rs754495941
|
0.00002
|
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr)
|
rs762212036
|
0.00002
|
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr)
|
rs202149617
|
0.00002
|
NM_182961.4(SYNE1):c.15053T>A (p.Leu5018Gln)
|
rs772978925
|
0.00002
|
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn)
|
rs780677467
|
0.00002
|
NM_182961.4(SYNE1):c.15408T>C (p.His5136=)
|
rs776024178
|
0.00002
|
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile)
|
rs770022371
|
0.00002
|
NM_182961.4(SYNE1):c.16288C>T (p.Leu5430Phe)
|
rs377227289
|
0.00002
|
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His)
|
rs370002959
|
0.00002
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro)
|
rs373436725
|
0.00002
|
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp)
|
rs780794124
|
0.00002
|
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe)
|
rs767705064
|
0.00002
|
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn)
|
rs751747080
|
0.00002
|
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg)
|
rs201146113
|
0.00002
|
NM_182961.4(SYNE1):c.17274C>A (p.His5758Gln)
|
rs147858920
|
0.00002
|
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)
|
rs753335678
|
0.00002
|
NM_182961.4(SYNE1):c.17683-11T>C
|
rs759219567
|
0.00002
|
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys)
|
rs558631055
|
0.00002
|
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val)
|
rs780920250
|
0.00002
|
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys)
|
rs980349048
|
0.00002
|
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met)
|
rs373188583
|
0.00002
|
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile)
|
rs138258566
|
0.00002
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser)
|
rs777882357
|
0.00002
|
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
|
rs773315032
|
0.00002
|
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro)
|
rs773155844
|
0.00002
|
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His)
|
rs777618601
|
0.00002
|
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys)
|
rs772396355
|
0.00002
|
NM_182961.4(SYNE1):c.21351+6A>G
|
rs760934207
|
0.00002
|
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn)
|
rs1488536575
|
0.00002
|
NM_182961.4(SYNE1):c.22162A>G (p.Thr7388Ala)
|
rs1386701721
|
0.00002
|
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala)
|
rs774655615
|
0.00002
|
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe)
|
rs886061196
|
0.00002
|
NM_182961.4(SYNE1):c.22558C>T (p.Arg7520Cys)
|
rs755621860
|
0.00002
|
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile)
|
rs138581943
|
0.00002
|
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)
|
rs202017153
|
0.00002
|
NM_182961.4(SYNE1):c.22979G>A (p.Arg7660Gln)
|
rs1461427417
|
0.00002
|
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu)
|
rs780201995
|
0.00002
|
NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn)
|
rs1435183530
|
0.00002
|
NM_182961.4(SYNE1):c.23314C>T (p.Arg7772Trp)
|
rs373935459
|
0.00002
|
NM_182961.4(SYNE1):c.23590G>A (p.Asp7864Asn)
|
rs760076679
|
0.00002
|
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr)
|
rs886042801
|
0.00002
|
NM_182961.4(SYNE1):c.23737G>A (p.Val7913Ile)
|
rs528535664
|
0.00002
|
NM_182961.4(SYNE1):c.2394+3G>A
|
rs368012666
|
0.00002
|
NM_182961.4(SYNE1):c.2394+4C>T
|
rs749262350
|
0.00002
|
NM_182961.4(SYNE1):c.23978+11A>T
|
rs754355745
|
0.00002
|
NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr)
|
rs750841362
|
0.00002
|
NM_182961.4(SYNE1):c.242G>A (p.Arg81His)
|
rs761189574
|
0.00002
|
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)
|
rs149940427
|
0.00002
|
NM_182961.4(SYNE1):c.24496A>G (p.Ile8166Val)
|
rs773060979
|
0.00002
|
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys)
|
rs200752692
|
0.00002
|
NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala)
|
rs754128595
|
0.00002
|
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His)
|
rs376102438
|
0.00002
|
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn)
|
rs751624606
|
0.00002
|
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp)
|
rs201109440
|
0.00002
|
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val)
|
rs776807564
|
0.00002
|
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr)
|
rs927451522
|
0.00002
|
NM_182961.4(SYNE1):c.25119+3A>G
|
rs1057521423
|
0.00002
|
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)
|
rs375476506
|
0.00002
|
NM_182961.4(SYNE1):c.2530G>A (p.Glu844Lys)
|
rs770166877
|
0.00002
|
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr)
|
rs770713708
|
0.00002
|
NM_182961.4(SYNE1):c.25460A>T (p.Glu8487Val)
|
rs775455354
|
0.00002
|
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=)
|
rs201344762
|
0.00002
|
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)
|
rs774317818
|
0.00002
|
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)
|
rs758464869
|
0.00002
|
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val)
|
rs1310685451
|
0.00002
|
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr)
|
rs1007703591
|
0.00002
|
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr)
|
rs769726483
|
0.00002
|
NM_182961.4(SYNE1):c.3736G>A (p.Glu1246Lys)
|
rs138915528
|
0.00002
|
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=)
|
rs762887399
|
0.00002
|
NM_182961.4(SYNE1):c.4487A>G (p.Lys1496Arg)
|
rs146300279
|
0.00002
|
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn)
|
rs774194598
|
0.00002
|
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe)
|
rs151002514
|
0.00002
|
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=)
|
rs771955377
|
0.00002
|
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln)
|
rs749115727
|
0.00002
|
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro)
|
rs779600835
|
0.00002
|
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met)
|
rs372724272
|
0.00002
|
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly)
|
rs144732736
|
0.00002
|
NM_182961.4(SYNE1):c.5872G>A (p.Glu1958Lys)
|
rs1563856215
|
0.00002
|
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn)
|
rs1449605743
|
0.00002
|
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser)
|
rs200432574
|
0.00002
|
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln)
|
rs201747340
|
0.00002
|
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)
|
rs368938119
|
0.00002
|
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser)
|
rs28447480
|
0.00002
|
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu)
|
rs765343767
|
0.00002
|
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly)
|
rs370851746
|
0.00002
|
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His)
|
rs755821648
|
0.00002
|
NM_182961.4(SYNE1):c.7174G>A (p.Val2392Met)
|
rs146099481
|
0.00002
|
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr)
|
rs763152677
|
0.00002
|
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys)
|
rs370082646
|
0.00002
|
NM_182961.4(SYNE1):c.7340A>G (p.His2447Arg)
|
rs527670014
|
0.00002
|
NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile)
|
rs375687383
|
0.00002
|
NM_182961.4(SYNE1):c.7610G>A (p.Arg2537Lys)
|
rs762448241
|
0.00002
|
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser)
|
rs367840064
|
0.00002
|
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu)
|
rs370644295
|
0.00002
|
NM_182961.4(SYNE1):c.8335A>G (p.Ile2779Val)
|
rs746384150
|
0.00002
|
NM_182961.4(SYNE1):c.8392A>G (p.Arg2798Gly)
|
rs886044262
|
0.00002
|
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly)
|
rs545685387
|
0.00002
|
NM_182961.4(SYNE1):c.860A>G (p.Asn287Ser)
|
rs781096163
|
0.00002
|
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu)
|
rs576979843
|
0.00002
|
NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu)
|
rs145819043
|
0.00002
|
NM_182961.4(SYNE1):c.9779A>G (p.Gln3260Arg)
|
rs555197359
|
0.00002
|
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val)
|
rs780460827
|
0.00002
|
NM_182961.4(SYNE1):c.9835G>A (p.Val3279Ile)
|
rs762807112
|
0.00002
|
NM_182961.4(SYNE1):c.9847A>C (p.Asn3283His)
|
rs745707616
|
0.00002
|
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn)
|
rs746689638
|
0.00002
|
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=)
|
rs747731841
|
0.00002
|
NM_198994.3(TGM6):c.*97T>A
|
rs1351166866
|
0.00002
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000253.4(MTTP):c.-205G>A
|
rs886058953
|
0.00001
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00001
|
NM_000370.3(TTPA):c.*1441C>G
|
rs553317836
|
0.00001
|
NM_000370.3(TTPA):c.*292A>G
|
rs886063067
|
0.00001
|
NM_000370.3(TTPA):c.*769G>A
|
rs775461769
|
0.00001
|
NM_000370.3(TTPA):c.117C>T (p.Gly39=)
|
rs750576019
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr)
|
rs186021365
|
0.00001
|
NM_000370.3(TTPA):c.358+15A>G
|
rs371592549
|
0.00001
|
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln)
|
rs748038814
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000370.3(TTPA):c.558A>G (p.Ser186=)
|
rs774283073
|
0.00001
|
NM_000370.3(TTPA):c.663+10A>G
|
rs374903020
|
0.00001
|
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe)
|
rs756313678
|
0.00001
|
NM_000384.3(APOB):c.*207C>A
|
rs886055566
|
0.00001
|
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)
|
rs762255105
|
0.00001
|
NM_000384.3(APOB):c.12219C>T (p.Asn4073=)
|
rs886055573
|
0.00001
|
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys)
|
rs886055572
|
0.00001
|
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys)
|
rs886055571
|
0.00001
|
NM_000384.3(APOB):c.4216+4A>G
|
rs886055588
|
0.00001
|
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr)
|
rs190013230
|
0.00001
|
NM_000391.4(TPP1):c.509-6C>G
|
rs778046473
|
0.00001
|
NM_000784.3(CYP27A1):c.-162C>T
|
rs886055629
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+4C>T
|
rs763008570
|
0.00001
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln)
|
rs760471205
|
0.00001
|
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val)
|
rs1201499588
|
0.00001
|
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr)
|
rs1201958431
|
0.00001
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
|
rs1453048118
|
0.00001
|
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=)
|
rs748358246
|
0.00001
|
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
|
rs1337764272
|
0.00001
|
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg)
|
rs765660985
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro)
|
rs1480110004
|
0.00001
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val)
|
rs767162764
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
|
rs370013480
|
0.00001
|
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg)
|
rs143844199
|
0.00001
|
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys)
|
rs374507635
|
0.00001
|
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter)
|
rs747389432
|
0.00001
|
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu)
|
rs376993392
|
0.00001
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu)
|
rs531504325
|
0.00001
|
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln)
|
rs1298533109
|
0.00001
|
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro)
|
rs1243753558
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg)
|
rs1253807962
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser)
|
rs1404621754
|
0.00001
|
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His)
|
rs1235744900
|
0.00001
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val)
|
rs1203579586
|
0.00001
|
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp)
|
rs1045858420
|
0.00001
|
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile)
|
rs375643077
|
0.00001
|
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr)
|
rs757653354
|
0.00001
|
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys)
|
rs760323157
|
0.00001
|
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro)
|
rs1943398664
|
0.00001
|
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg)
|
rs746666035
|
0.00001
|
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys)
|
rs192494481
|
0.00001
|
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala)
|
rs1271066819
|
0.00001
|
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg)
|
rs1274003022
|
0.00001
|
NM_000784.4(CYP27A1):c.845-3C>T
|
rs768674577
|
0.00001
|
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn)
|
rs958713867
|
0.00001
|
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr)
|
rs371056722
|
0.00001
|
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro)
|
rs371133296
|
0.00001
|
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln)
|
rs769640126
|
0.00001
|
NM_001001344.3(ATP2B3):c.1445G>A (p.Arg482His)
|
rs1557010446
|
0.00001
|
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln)
|
rs782067205
|
0.00001
|
NM_001009894.3(RLIG1):c.*611A>G
|
rs2033206514
|
0.00001
|
NM_001044385.3(TMEM237):c.*1330C>T
|
rs1016616892
|
0.00001
|
NM_001044385.3(TMEM237):c.*1378A>G
|
rs886055443
|
0.00001
|
NM_001044385.3(TMEM237):c.*1561G>A
|
rs563393191
|
0.00001
|
NM_001044385.3(TMEM237):c.*1603T>G
|
rs886055442
|
0.00001
|
NM_001044385.3(TMEM237):c.*1835C>T
|
rs1414626161
|
0.00001
|
NM_001044385.3(TMEM237):c.*1965G>A
|
rs947203821
|
0.00001
|
NM_001044385.3(TMEM237):c.*2044T>C
|
rs886055440
|
0.00001
|
NM_001044385.3(TMEM237):c.*2495C>G
|
rs1459433205
|
0.00001
|
NM_001044385.3(TMEM237):c.*3997A>G
|
rs1387630894
|
0.00001
|
NM_001044385.3(TMEM237):c.*3C>A
|
rs749132259
|
0.00001
|
NM_001044385.3(TMEM237):c.-59G>A
|
rs886055449
|
0.00001
|
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
|
rs1559590115
|
0.00001
|
NM_001044385.3(TMEM237):c.1038-6T>G
|
rs758523904
|
0.00001
|
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp)
|
rs747158935
|
0.00001
|
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val)
|
rs1437714395
|
0.00001
|
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
|
rs373445814
|
0.00001
|
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=)
|
rs747915597
|
0.00001
|
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp)
|
rs779250127
|
0.00001
|
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
|
rs1186656902
|
0.00001
|
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
|
rs759392151
|
0.00001
|
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
|
rs772680401
|
0.00001
|
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser)
|
rs750312169
|
0.00001
|
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
|
rs184256195
|
0.00001
|
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
|
rs771052304
|
0.00001
|
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys)
|
rs762678333
|
0.00001
|
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=)
|
rs754056989
|
0.00001
|
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His)
|
rs186216206
|
0.00001
|
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro)
|
rs373956551
|
0.00001
|
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
|
rs773685442
|
0.00001
|
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg)
|
rs749330370
|
0.00001
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
0.00001
|
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=)
|
rs370681829
|
0.00001
|
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser)
|
rs769694232
|
0.00001
|
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
|
rs759814109
|
0.00001
|
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met)
|
rs886055448
|
0.00001
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
NM_001044385.3(TMEM237):c.869+5T>C
|
rs530769303
|
0.00001
|
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val)
|
rs773512396
|
0.00001
|
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
|
rs1209527419
|
0.00001
|
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
|
rs745540263
|
0.00001
|
NM_001044385.3(TMEM237):c.943+5G>A
|
rs779322966
|
0.00001
|
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
|
rs576586379
|
0.00001
|
NM_001077418.2(TMEM231):c.-44C>A
|
rs1419518232
|
0.00001
|
NM_001077418.3(TMEM231):c.-12C>G
|
rs745498623
|
0.00001
|
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)
|
rs1597051521
|
0.00001
|
NM_001077418.3(TMEM231):c.139+23G>A
|
rs770598456
|
0.00001
|
NM_001077418.3(TMEM231):c.139+25C>T
|
rs1474874368
|
0.00001
|
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg)
|
rs766492182
|
0.00001
|
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)
|
rs541195377
|
0.00001
|
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val)
|
rs1309156955
|
0.00001
|
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
|
rs759954710
|
0.00001
|
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg)
|
rs1255071095
|
0.00001
|
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
|
rs1202833405
|
0.00001
|
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val)
|
rs750935858
|
0.00001
|
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser)
|
rs566395744
|
0.00001
|
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)
|
rs778407563
|
0.00001
|
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg)
|
rs763194213
|
0.00001
|
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met)
|
rs745485432
|
0.00001
|
NM_001077418.3(TMEM231):c.665-3C>T
|
rs780063686
|
0.00001
|
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile)
|
rs746055228
|
0.00001
|
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)
|
rs746025189
|
0.00001
|
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=)
|
rs746685376
|
0.00001
|
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu)
|
rs1230743826
|
0.00001
|
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)
|
rs768632156
|
0.00001
|
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)
|
rs746970206
|
0.00001
|
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)
|
rs1435643293
|
0.00001
|
NM_001080414.4(CCDC88C):c.1888G>A (p.Ala630Thr)
|
rs773899627
|
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_001080453.3(INTS1):c.616G>C (p.Val206Leu)
|
rs370240975
|
0.00001
|
NM_001080522.2(CC2D2A):c.*144A>C
|
rs920755267
|
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.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_001128178.3(NPHP1):c.*322A>G
|
rs886054752
|
0.00001
|
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu)
|
rs780706360
|
0.00001
|
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)
|
rs746482479
|
0.00001
|
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)
|
rs1186755904
|
0.00001
|
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)
|
rs1283995363
|
0.00001
|
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)
|
rs951115963
|
0.00001
|
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)
|
rs147090619
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+15T>C
|
rs368590150
|
0.00001
|
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)
|
rs543675502
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu)
|
rs760772706
|
0.00001
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
0.00001
|
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)
|
rs781291281
|
0.00001
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
0.00001
|
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)
|
rs753605280
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
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_001134831.2(AHI1):c.*1327C>T
|
rs371457794
|
0.00001
|
NM_001134831.2(AHI1):c.*1646T>C
|
rs886061100
|
0.00001
|
NM_001134831.2(AHI1):c.*68C>T
|
rs886061108
|
0.00001
|
NM_001134831.2(AHI1):c.*80C>T
|
rs536580823
|
0.00001
|
NM_001134831.2(AHI1):c.-54G>T
|
rs1162660693
|
0.00001
|
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp)
|
rs183862577
|
0.00001
|
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys)
|
rs561883150
|
0.00001
|
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys)
|
rs777952691
|
0.00001
|
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val)
|
rs533707253
|
0.00001
|
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg)
|
rs766231229
|
0.00001
|
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys)
|
rs763970632
|
0.00001
|
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met)
|
rs780336496
|
0.00001
|
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser)
|
rs1257057591
|
0.00001
|
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys)
|
rs1291908829
|
0.00001
|
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala)
|
rs780154667
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu)
|
rs1348260638
|
0.00001
|
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp)
|
rs1362092820
|
0.00001
|
NM_001134831.2(AHI1):c.2492+3A>G
|
rs951268770
|
0.00001
|
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys)
|
rs767879919
|
0.00001
|
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
|
rs1380121460
|
0.00001
|
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val)
|
rs759069413
|
0.00001
|
NM_001134831.2(AHI1):c.2765-9T>C
|
rs374852342
|
0.00001
|
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)
|
rs538724792
|
0.00001
|
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His)
|
rs1301526139
|
0.00001
|
NM_001134831.2(AHI1):c.279C>T (p.Ser93=)
|
rs1205189543
|
0.00001
|
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)
|
rs775305093
|
0.00001
|
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)
|
rs373490556
|
0.00001
|
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)
|
rs760858792
|
0.00001
|
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg)
|
rs1183310371
|
0.00001
|
NM_001134831.2(AHI1):c.2962-13G>A
|
rs927158679
|
0.00001
|
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr)
|
rs1261277645
|
0.00001
|
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr)
|
rs749649946
|
0.00001
|
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
|
rs756637497
|
0.00001
|
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)
|
rs776053386
|
0.00001
|
NM_001134831.2(AHI1):c.3426+6T>A
|
rs1267329906
|
0.00001
|
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val)
|
rs766168872
|
0.00001
|
NM_001134831.2(AHI1):c.3485+6C>T
|
rs748866983
|
0.00001
|
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)
|
rs776098993
|
0.00001
|
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
|
rs140836078
|
0.00001
|
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro)
|
rs770822998
|
0.00001
|
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys)
|
rs1245690441
|
0.00001
|
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr)
|
rs1032930574
|
0.00001
|
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met)
|
rs781286716
|
0.00001
|
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr)
|
rs759553258
|
0.00001
|
NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser)
|
rs746906096
|
0.00001
|
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu)
|
rs992608564
|
0.00001
|
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln)
|
rs1203128651
|
0.00001
|
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr)
|
rs766140596
|
0.00001
|
NM_001163809.2(WDR81):c.5179+6C>T
|
rs748777672
|
0.00001
|
NM_001173990.2(TMEM216):c.-242C>T
|
rs756981776
|
0.00001
|
NM_001173990.3(TMEM216):c.*377T>C
|
rs1260385076
|
0.00001
|
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
|
rs548299486
|
0.00001
|
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)
|
rs1287246452
|
0.00001
|
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)
|
rs1554972406
|
0.00001
|
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)
|
rs528921796
|
0.00001
|
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)
|
rs774225426
|
0.00001
|
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)
|
rs367737418
|
0.00001
|
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)
|
rs528271337
|
0.00001
|
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)
|
rs1356639316
|
0.00001
|
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
|
rs1175852840
|
0.00001
|
NM_001271696.3(ABCB7):c.168+13T>C
|
rs1057515989
|
0.00001
|
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
|
rs141119655
|
0.00001
|
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile)
|
rs768257406
|
0.00001
|
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)
|
rs781524899
|
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_001278064.2(GRM1):c.951-6T>A
|
rs758215901
|
0.00001
|
NM_001329943.3(KIAA0586):c.*10G>A
|
rs1280881561
|
0.00001
|
NM_001329943.3(KIAA0586):c.*24del
|
rs775748329
|
0.00001
|
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys)
|
rs781781110
|
0.00001
|
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met)
|
rs769423672
|
0.00001
|
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile)
|
rs771000156
|
0.00001
|
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr)
|
rs1406399353
|
0.00001
|
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp)
|
rs932782936
|
0.00001
|
NM_001329943.3(KIAA0586):c.1253+4A>G
|
rs1182604650
|
0.00001
|
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn)
|
rs757196467
|
0.00001
|
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile)
|
rs779792778
|
0.00001
|
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys)
|
rs746704306
|
0.00001
|
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys)
|
rs778123212
|
0.00001
|
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys)
|
rs1445118511
|
0.00001
|
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His)
|
rs753917457
|
0.00001
|
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys)
|
rs1173352052
|
0.00001
|
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu)
|
rs747120591
|
0.00001
|
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly)
|
rs1020004939
|
0.00001
|
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu)
|
rs1297075839
|
0.00001
|
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr)
|
rs1039498791
|
0.00001
|
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys)
|
rs1595193868
|
0.00001
|
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln)
|
rs1047721846
|
0.00001
|
NM_001329943.3(KIAA0586):c.199+6T>A
|
rs764690540
|
0.00001
|
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln)
|
rs547990270
|
0.00001
|
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr)
|
rs371583234
|
0.00001
|
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala)
|
rs558410911
|
0.00001
|
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val)
|
rs1200934389
|
0.00001
|
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly)
|
rs373601253
|
0.00001
|
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu)
|
rs1190897774
|
0.00001
|
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys)
|
rs1267499182
|
0.00001
|
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg)
|
rs773759282
|
0.00001
|
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn)
|
rs922088604
|
0.00001
|
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser)
|
rs955530356
|
0.00001
|
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg)
|
rs377409718
|
0.00001
|
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser)
|
rs377023593
|
0.00001
|
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu)
|
rs1338718674
|
0.00001
|
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly)
|
rs770688785
|
0.00001
|
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp)
|
rs1261333772
|
0.00001
|
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser)
|
rs752882356
|
0.00001
|
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln)
|
rs537951340
|
0.00001
|
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu)
|
rs768032063
|
0.00001
|
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu)
|
rs943207254
|
0.00001
|
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile)
|
rs368808852
|
0.00001
|
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His)
|
rs754818478
|
0.00001
|
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys)
|
rs563109987
|
0.00001
|
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu)
|
rs369859399
|
0.00001
|
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile)
|
rs772489368
|
0.00001
|
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser)
|
rs766060506
|
0.00001
|
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser)
|
rs373431045
|
0.00001
|
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val)
|
rs773159825
|
0.00001
|
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn)
|
rs758962196
|
0.00001
|
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser)
|
rs1413013409
|
0.00001
|
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly)
|
rs751729993
|
0.00001
|
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser)
|
rs755937342
|
0.00001
|
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn)
|
rs199517530
|
0.00001
|
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu)
|
rs1190269049
|
0.00001
|
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly)
|
rs910865335
|
0.00001
|
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu)
|
rs539304161
|
0.00001
|
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln)
|
rs560315226
|
0.00001
|
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala)
|
rs201889432
|
0.00001
|
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val)
|
rs1223415414
|
0.00001
|
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala)
|
rs1256817386
|
0.00001
|
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr)
|
rs1256644781
|
0.00001
|
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg)
|
rs1019828731
|
0.00001
|
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His)
|
rs779179754
|
0.00001
|
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile)
|
rs1441855459
|
0.00001
|
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu)
|
rs966912655
|
0.00001
|
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser)
|
rs912168236
|
0.00001
|
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile)
|
rs775143643
|
0.00001
|
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val)
|
rs1446993944
|
0.00001
|
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr)
|
rs1188851321
|
0.00001
|
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu)
|
rs752429234
|
0.00001
|
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp)
|
rs1015444951
|
0.00001
|
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn)
|
rs754191741
|
0.00001
|
NM_001329943.3(KIAA0586):c.4496-3808A>C
|
rs181384924
|
0.00001
|
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=)
|
rs1476732636
|
0.00001
|
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=)
|
rs371910625
|
0.00001
|
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile)
|
rs540188519
|
0.00001
|
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met)
|
rs1260723288
|
0.00001
|
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro)
|
rs758886732
|
0.00001
|
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg)
|
rs375374719
|
0.00001
|
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His)
|
rs779062959
|
0.00001
|
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu)
|
rs780198735
|
0.00001
|
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg)
|
rs772425621
|
0.00001
|
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala)
|
rs1372486181
|
0.00001
|
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly)
|
rs765495285
|
0.00001
|
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile)
|
rs751564059
|
0.00001
|
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg)
|
rs1297972335
|
0.00001
|
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu)
|
rs372305836
|
0.00001
|
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys)
|
rs1384400002
|
0.00001
|
NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp)
|
rs776275848
|
0.00001
|
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg)
|
rs1412562086
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
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.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.579C>T (p.Leu193=)
|
rs1184080545
|
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.2006+13C>A
|
rs1181863539
|
0.00001
|
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=)
|
rs779948053
|
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.819A>G (p.Thr273=)
|
rs886058580
|
0.00001
|
NM_001378615.1(CC2D2A):c.*94T>C
|
rs1296848672
|
0.00001
|
NM_001378615.1(CC2D2A):c.1018-11T>C
|
rs200340261
|
0.00001
|
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)
|
rs368669579
|
0.00001
|
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu)
|
rs759126033
|
0.00001
|
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His)
|
rs886059139
|
0.00001
|
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu)
|
rs533830027
|
0.00001
|
NM_001378615.1(CC2D2A):c.2487-6T>C
|
rs767335431
|
0.00001
|
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)
|
rs765820512
|
0.00001
|
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=)
|
rs886059158
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NM_001378615.1(CC2D2A):c.3015-9A>C
|
rs1010285962
|
0.00001
|
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu)
|
rs886059181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val)
|
rs763775613
|
0.00001
|
NM_001378615.1(CC2D2A):c.3398+7A>G
|
rs772784324
|
0.00001
|
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg)
|
rs886059184
|
0.00001
|
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys)
|
rs371561652
|
0.00001
|
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg)
|
rs1392733763
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-12T>G
|
rs769761582
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-14T>A
|
rs766203266
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu)
|
rs201986486
|
0.00001
|
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)
|
rs113371687
|
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.1371G>A (p.Thr457=)
|
rs773858454
|
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.1478T>G (p.Val493Gly)
|
rs1216457569
|
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.1879G>A (p.Gly627Arg)
|
rs372362132
|
0.00001
|
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser)
|
rs766562520
|
0.00001
|
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)
|
rs766584545
|
0.00001
|
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser)
|
rs760097003
|
0.00001
|
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr)
|
rs373756710
|
0.00001
|
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp)
|
rs1307934269
|
0.00001
|
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val)
|
rs760460512
|
0.00001
|
NM_001382391.1(CSPP1):c.-102G>A
|
rs1805078439
|
0.00001
|
NM_001382391.1(CSPP1):c.-116C>T
|
rs371071297
|
0.00001
|
NM_001382391.1(CSPP1):c.-140C>G
|
rs770993498
|
0.00001
|
NM_001382391.1(CSPP1):c.-146T>A
|
rs749476046
|
0.00001
|
NM_001382391.1(CSPP1):c.-75C>T
|
rs918221746
|
0.00001
|
NM_001382391.1(CSPP1):c.100-3C>T
|
rs919525492
|
0.00001
|
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser)
|
rs1395802185
|
0.00001
|
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr)
|
rs1445583372
|
0.00001
|
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn)
|
rs1037020711
|
0.00001
|
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile)
|
rs1231591915
|
0.00001
|
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr)
|
rs1460794902
|
0.00001
|
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr)
|
rs974893054
|
0.00001
|
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg)
|
rs1438276592
|
0.00001
|
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val)
|
rs755596091
|
0.00001
|
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala)
|
rs1818321960
|
0.00001
|
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln)
|
rs778430027
|
0.00001
|
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser)
|
rs1818326433
|
0.00001
|
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu)
|
rs375900507
|
0.00001
|
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp)
|
rs768395830
|
0.00001
|
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys)
|
rs1818416279
|
0.00001
|
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala)
|
rs754153035
|
0.00001
|
NM_001382391.1(CSPP1):c.1827+3A>G
|
rs1449112719
|
0.00001
|
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp)
|
rs527674289
|
0.00001
|
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln)
|
rs1822579573
|
0.00001
|
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys)
|
rs760288983
|
0.00001
|
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg)
|
rs1452211221
|
0.00001
|
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly)
|
rs1212455505
|
0.00001
|
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg)
|
rs1822600510
|
0.00001
|
NM_001382391.1(CSPP1):c.199+13A>G
|
rs756283251
|
0.00001
|
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys)
|
rs1420249213
|
0.00001
|
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr)
|
rs968055651
|
0.00001
|
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg)
|
rs769707621
|
0.00001
|
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser)
|
rs751023936
|
0.00001
|
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala)
|
rs780885390
|
0.00001
|
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile)
|
rs577752590
|
0.00001
|
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln)
|
rs201974031
|
0.00001
|
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser)
|
rs1826216893
|
0.00001
|
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His)
|
rs769971911
|
0.00001
|
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met)
|
rs760013419
|
0.00001
|
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr)
|
rs1421808533
|
0.00001
|
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys)
|
rs1251717089
|
0.00001
|
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys)
|
rs765955382
|
0.00001
|
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr)
|
rs769473253
|
0.00001
|
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu)
|
rs1332974255
|
0.00001
|
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr)
|
rs894040195
|
0.00001
|
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile)
|
rs1828816022
|
0.00001
|
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys)
|
rs746260241
|
0.00001
|
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro)
|
rs764280843
|
0.00001
|
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly)
|
rs772949501
|
0.00001
|
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys)
|
rs373151997
|
0.00001
|
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln)
|
rs377493480
|
0.00001
|
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val)
|
rs370720351
|
0.00001
|
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn)
|
rs1381482450
|
0.00001
|
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly)
|
rs1282726257
|
0.00001
|
NM_001382391.1(CSPP1):c.2829-3T>C
|
rs1830657246
|
0.00001
|
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr)
|
rs1162661826
|
0.00001
|
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser)
|
rs745710780
|
0.00001
|
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn)
|
rs766939685
|
0.00001
|
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn)
|
rs1384362094
|
0.00001
|
NM_001382391.1(CSPP1):c.303+3A>T
|
rs920556156
|
0.00001
|
NM_001382391.1(CSPP1):c.3109+5G>C
|
rs772586492
|
0.00001
|
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val)
|
rs370238037
|
0.00001
|
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His)
|
rs766496985
|
0.00001
|
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser)
|
rs1835967725
|
0.00001
|
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile)
|
rs1368965128
|
0.00001
|
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile)
|
rs778723931
|
0.00001
|
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys)
|
rs758825560
|
0.00001
|
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala)
|
rs778293599
|
0.00001
|
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys)
|
rs537833447
|
0.00001
|
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr)
|
rs1017040124
|
0.00001
|
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser)
|
rs1158377033
|
0.00001
|
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro)
|
rs766061975
|
0.00001
|
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr)
|
rs1170601676
|
0.00001
|
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His)
|
rs752140903
|
0.00001
|
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His)
|
rs748165041
|
0.00001
|
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His)
|
rs1241589485
|
0.00001
|
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter)
|
rs936435444
|
0.00001
|
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser)
|
rs377160929
|
0.00001
|
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser)
|
rs1395114211
|
0.00001
|
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln)
|
rs772650396
|
0.00001
|
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His)
|
rs762548335
|
0.00001
|
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys)
|
rs747784602
|
0.00001
|
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro)
|
rs1339065259
|
0.00001
|
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu)
|
rs752084244
|
0.00001
|
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp)
|
rs748917623
|
0.00001
|
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys)
|
rs1369528194
|
0.00001
|
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala)
|
rs764343140
|
0.00001
|
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg)
|
rs374738280
|
0.00001
|
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln)
|
rs1173092063
|
0.00001
|
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu)
|
rs754454865
|
0.00001
|
NM_001386140.1(MTTP):c.*1018G>A
|
rs1036088923
|
0.00001
|
NM_001386140.1(MTTP):c.*184G>A
|
rs146172944
|
0.00001
|
NM_001386140.1(MTTP):c.*490_*494del
|
rs886058963
|
0.00001
|
NM_001386140.1(MTTP):c.*668A>G
|
rs1021704277
|
0.00001
|
NM_001386140.1(MTTP):c.-20G>A
|
rs752823787
|
0.00001
|
NM_001386140.1(MTTP):c.-28T>C
|
rs886058956
|
0.00001
|
NM_001386140.1(MTTP):c.-54C>T
|
rs181769817
|
0.00001
|
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser)
|
rs138544271
|
0.00001
|
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr)
|
rs765712127
|
0.00001
|
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser)
|
rs368711749
|
0.00001
|
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser)
|
rs758939873
|
0.00001
|
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu)
|
rs780688378
|
0.00001
|
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)
|
rs200992175
|
0.00001
|
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu)
|
rs1159084242
|
0.00001
|
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg)
|
rs1309109456
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
0.00001
|
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys)
|
rs149228079
|
0.00001
|
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His)
|
rs752590883
|
0.00001
|
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile)
|
rs572336571
|
0.00001
|
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn)
|
rs1459889971
|
0.00001
|
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg)
|
rs774949603
|
0.00001
|
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr)
|
rs1283368181
|
0.00001
|
NM_001386140.1(MTTP):c.393+5A>G
|
rs771577895
|
0.00001
|
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val)
|
rs1252692732
|
0.00001
|
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg)
|
rs746001155
|
0.00001
|
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)
|
rs748108500
|
0.00001
|
NM_001386140.1(MTTP):c.756G>A (p.Ser252=)
|
rs750749323
|
0.00001
|
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp)
|
rs1428463955
|
0.00001
|
NM_001386140.1(MTTP):c.863C>A (p.Pro288His)
|
rs1022457887
|
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_002739.5(PRKCG):c.*360G>C
|
rs886054614
|
0.00001
|
NM_002739.5(PRKCG):c.*415G>C
|
rs2068821858
|
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_003383.5(VLDLR):c.*267A>G
|
rs1036108012
|
0.00001
|
NM_003383.5(VLDLR):c.*51C>T
|
rs752035004
|
0.00001
|
NM_003383.5(VLDLR):c.-48G>C
|
rs1054805961
|
0.00001
|
NM_003383.5(VLDLR):c.1066+14T>C
|
rs762128149
|
0.00001
|
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)
|
rs137946976
|
0.00001
|
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr)
|
rs369197633
|
0.00001
|
NM_003383.5(VLDLR):c.2104+6G>A
|
rs773398189
|
0.00001
|
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys)
|
rs1818277717
|
0.00001
|
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala)
|
rs753848585
|
0.00001
|
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn)
|
rs144469558
|
0.00001
|
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)
|
rs773228197
|
0.00001
|
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)
|
rs762636526
|
0.00001
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949
|
0.00001
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
0.00001
|
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
|
rs374558203
|
0.00001
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233
|
0.00001
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264
|
0.00001
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151
|
0.00001
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635
|
0.00001
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807
|
0.00001
|
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)
|
rs1435854424
|
0.00001
|
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg)
|
rs371186754
|
0.00001
|
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)
|
rs763981711
|
0.00001
|
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)
|
rs770540843
|
0.00001
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
0.00001
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
0.00001
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000
|
0.00001
|
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
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.620G>A (p.Arg207Gln)
|
rs760595879
|
0.00001
|
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)
|
rs757752994
|
0.00001
|
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg)
|
rs1305901422
|
0.00001
|
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)
|
rs1333091798
|
0.00001
|
NM_005861.4(STUB1):c.518G>T (p.Arg173Leu)
|
rs755346712
|
0.00001
|
NM_006392.4(NOP56):c.452G>C (p.Ser151Thr)
|
rs1360494485
|
0.00001
|
NM_006796.3(AFG3L2):c.*585A>C
|
rs886053611
|
0.00001
|
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His)
|
rs1263405472
|
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.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.5611G>A (p.Ala1871Thr)
|
rs752677090
|
0.00001
|
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=)
|
rs749188722
|
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.6802G>A (p.Val2268Met)
|
rs750623875
|
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_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)
|
rs763116781
|
0.00001
|
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
|
rs766655539
|
0.00001
|
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)
|
rs773641701
|
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_014053.4(FLVCR1):c.*123T>C
|
rs1355815695
|
0.00001
|
NM_014053.4(FLVCR1):c.*1738G>A
|
rs541110364
|
0.00001
|
NM_014053.4(FLVCR1):c.*2188C>T
|
rs552491316
|
0.00001
|
NM_014053.4(FLVCR1):c.*2954T>C
|
rs930665650
|
0.00001
|
NM_014053.4(FLVCR1):c.*3228T>C
|
rs886045943
|
0.00001
|
NM_014053.4(FLVCR1):c.*344T>C
|
rs886045930
|
0.00001
|
NM_014053.4(FLVCR1):c.*665C>T
|
rs1226910181
|
0.00001
|
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile)
|
rs754655924
|
0.00001
|
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)
|
rs1391075754
|
0.00001
|
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=)
|
rs74607124
|
0.00001
|
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=)
|
rs1251133617
|
0.00001
|
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly)
|
rs781057835
|
0.00001
|
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser)
|
rs746296931
|
0.00001
|
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=)
|
rs886045928
|
0.00001
|
NM_014363.6(SACS):c.*307A>G
|
rs576860445
|
0.00001
|
NM_014363.6(SACS):c.*461G>A
|
rs1003496096
|
0.00001
|
NM_014363.6(SACS):c.*711A>G
|
rs368233436
|
0.00001
|
NM_014363.6(SACS):c.-470C>T
|
rs748973703
|
0.00001
|
NM_014363.6(SACS):c.-489G>A
|
rs886050091
|
0.00001
|
NM_014363.6(SACS):c.-70G>A
|
rs575970347
|
0.00001
|
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala)
|
rs767926148
|
0.00001
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)
|
rs1388546547
|
0.00001
|
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle)
|
rs1555250190
|
0.00001
|
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)
|
rs886050078
|
0.00001
|
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val)
|
rs372494676
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
|
rs748237614
|
0.00001
|
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)
|
rs1883567634
|
0.00001
|
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr)
|
rs759433888
|
0.00001
|
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)
|
rs886050075
|
0.00001
|
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
|
rs766487632
|
0.00001
|
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)
|
rs746782589
|
0.00001
|
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)
|
rs1236705431
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)
|
rs1328721442
|
0.00001
|
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)
|
rs778310483
|
0.00001
|
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
|
rs764098635
|
0.00001
|
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys)
|
rs1490155590
|
0.00001
|
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val)
|
rs767622491
|
0.00001
|
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser)
|
rs746194271
|
0.00001
|
NM_014363.6(SACS):c.12816C>T (p.Gly4272=)
|
rs142643824
|
0.00001
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13281T>A (p.Thr4427=)
|
rs1360709632
|
0.00001
|
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp)
|
rs886050071
|
0.00001
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
NM_014363.6(SACS):c.13476G>C (p.Val4492=)
|
rs370362235
|
0.00001
|
NM_014363.6(SACS):c.13506A>G (p.Pro4502=)
|
rs1593119067
|
0.00001
|
NM_014363.6(SACS):c.13509T>G (p.Thr4503=)
|
rs745361567
|
0.00001
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)
|
rs750412600
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)
|
rs376186273
|
0.00001
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr)
|
rs374667929
|
0.00001
|
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile)
|
rs767844042
|
0.00001
|
NM_014363.6(SACS):c.2451C>T (p.Leu817=)
|
rs756595744
|
0.00001
|
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)
|
rs571646732
|
0.00001
|
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)
|
rs142037771
|
0.00001
|
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)
|
rs759265754
|
0.00001
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu)
|
rs377493083
|
0.00001
|
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)
|
rs771915442
|
0.00001
|
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
|
rs774044532
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys)
|
rs756303420
|
0.00001
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val)
|
rs373859681
|
0.00001
|
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)
|
rs757939935
|
0.00001
|
NM_014363.6(SACS):c.4149T>C (p.His1383=)
|
rs749219225
|
0.00001
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly)
|
rs370324250
|
0.00001
|
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)
|
rs772907934
|
0.00001
|
NM_014363.6(SACS):c.475T>C (p.Tyr159His)
|
rs1305721973
|
0.00001
|
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
|
rs1330036755
|
0.00001
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)
|
rs746069731
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4846A>C (p.Asn1616His)
|
rs979327782
|
0.00001
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu)
|
rs1035497308
|
0.00001
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)
|
rs776656956
|
0.00001
|
NM_014363.6(SACS):c.5064G>A (p.Gln1688=)
|
rs760628805
|
0.00001
|
NM_014363.6(SACS):c.561C>T (p.Val187=)
|
rs758653462
|
0.00001
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)
|
rs774492331
|
0.00001
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
0.00001
|
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)
|
rs1461096954
|
0.00001
|
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)
|
rs758101602
|
0.00001
|
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
|
rs762268076
|
0.00001
|
NM_014363.6(SACS):c.6096G>A (p.Ser2032=)
|
rs756027210
|
0.00001
|
NM_014363.6(SACS):c.60C>T (p.Cys20=)
|
rs932552006
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly)
|
rs369388933
|
0.00001
|
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)
|
rs149278134
|
0.00001
|
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu)
|
rs150098233
|
0.00001
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
|
rs754381972
|
0.00001
|
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
|
rs759201960
|
0.00001
|
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
|
rs752273313
|
0.00001
|
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)
|
rs1213144547
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
|
rs567650774
|
0.00001
|
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)
|
rs767864000
|
0.00001
|
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
|
rs1288769278
|
0.00001
|
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val)
|
rs866333277
|
0.00001
|
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser)
|
rs1191066514
|
0.00001
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
0.00001
|
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val)
|
rs1269342975
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)
|
rs762610527
|
0.00001
|
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)
|
rs182864646
|
0.00001
|
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)
|
rs772072343
|
0.00001
|
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
|
rs745462710
|
0.00001
|
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
|
rs372119773
|
0.00001
|
NM_014363.6(SACS):c.8356G>C (p.Asp2786His)
|
rs753607639
|
0.00001
|
NM_014363.6(SACS):c.8379G>A (p.Gln2793=)
|
rs776028181
|
0.00001
|
NM_014363.6(SACS):c.83C>T (p.Ser28Phe)
|
rs1365453773
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)
|
rs1382975968
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=)
|
rs779302353
|
0.00001
|
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp)
|
rs184407783
|
0.00001
|
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu)
|
rs776647599
|
0.00001
|
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)
|
rs777753707
|
0.00001
|
NM_014363.6(SACS):c.8956C>G (p.His2986Asp)
|
rs751888795
|
0.00001
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
|
rs755698899
|
0.00001
|
NM_014363.6(SACS):c.944A>G (p.Asp315Gly)
|
rs771115225
|
0.00001
|
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
|
rs1025915131
|
0.00001
|
NM_014363.6(SACS):c.9661G>A (p.Val3221Met)
|
rs142867964
|
0.00001
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)
|
rs772595501
|
0.00001
|
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)
|
rs1114167292
|
0.00001
|
NM_015046.7(SETX):c.*13A>T
|
rs1204954131
|
0.00001
|
NM_015046.7(SETX):c.*1420A>T
|
rs751833631
|
0.00001
|
NM_015046.7(SETX):c.*1722A>G
|
rs963398615
|
0.00001
|
NM_015046.7(SETX):c.*2287T>C
|
rs1842428001
|
0.00001
|
NM_015046.7(SETX):c.*869C>T
|
rs1354270999
|
0.00001
|
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala)
|
rs999767103
|
0.00001
|
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)
|
rs377301250
|
0.00001
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)
|
rs1032816797
|
0.00001
|
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala)
|
rs957434595
|
0.00001
|
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu)
|
rs1015257691
|
0.00001
|
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)
|
rs773195802
|
0.00001
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)
|
rs771954896
|
0.00001
|
NM_015046.7(SETX):c.2607_2609del (p.Lys870del)
|
rs781159054
|
0.00001
|
NM_015046.7(SETX):c.2749A>C (p.Met917Leu)
|
rs761943404
|
0.00001
|
NM_015046.7(SETX):c.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr)
|
rs200856903
|
0.00001
|
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn)
|
rs1846998334
|
0.00001
|
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly)
|
rs752140967
|
0.00001
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)
|
rs778505279
|
0.00001
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)
|
rs1297541939
|
0.00001
|
NM_015046.7(SETX):c.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)
|
rs773999398
|
0.00001
|
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)
|
rs146407699
|
0.00001
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg)
|
rs778111855
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)
|
rs772466321
|
0.00001
|
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)
|
rs916634082
|
0.00001
|
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu)
|
rs1362908917
|
0.00001
|
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)
|
rs1466879487
|
0.00001
|
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
|
rs185338915
|
0.00001
|
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)
|
rs758411198
|
0.00001
|
NM_015046.7(SETX):c.5431G>A (p.Val1811Met)
|
rs947336270
|
0.00001
|
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile)
|
rs763771426
|
0.00001
|
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.5661A>G (p.Gln1887=)
|
rs1589671916
|
0.00001
|
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
|
rs765849036
|
0.00001
|
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)
|
rs929798338
|
0.00001
|
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
|
rs200571606
|
0.00001
|
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val)
|
rs1009296937
|
0.00001
|
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)
|
rs141440621
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
NM_015046.7(SETX):c.598A>G (p.Ile200Val)
|
rs1368588434
|
0.00001
|
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser)
|
rs1429339677
|
0.00001
|
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)
|
rs747309962
|
0.00001
|
NM_015046.7(SETX):c.617A>G (p.Glu206Gly)
|
rs759880306
|
0.00001
|
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu)
|
rs755531730
|
0.00001
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)
|
rs148041889
|
0.00001
|
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp)
|
rs1843269972
|
0.00001
|
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu)
|
rs781671592
|
0.00001
|
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)
|
rs1420833435
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)
|
rs912160285
|
0.00001
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr)
|
rs1842557730
|
0.00001
|
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)
|
rs146862359
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015046.7(SETX):c.823G>A (p.Glu275Lys)
|
rs901741485
|
0.00001
|
NM_015046.7(SETX):c.865G>A (p.Ala289Thr)
|
rs775579797
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.980A>T (p.Glu327Val)
|
rs1315992594
|
0.00001
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met)
|
rs192764146
|
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_015272.5(RPGRIP1L):c.*107G>A
|
rs770837632
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*1597G>A
|
rs1963334195
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*1869A>G
|
rs1224541215
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*262G>A
|
rs563237818
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*269C>T
|
rs190566840
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*53G>A
|
rs1963400312
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)
|
rs747867189
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)
|
rs758759988
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn)
|
rs949199630
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu)
|
rs770032567
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn)
|
rs777834264
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1351-11A>G
|
rs750076702
|
0.00001
|
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp)
|
rs377512064
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly)
|
rs371841392
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)
|
rs147331527
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)
|
rs145516192
|
0.00001
|
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)
|
rs755258407
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
|
rs781713688
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)
|
rs775017742
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)
|
rs375766769
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro)
|
rs776297522
|
0.00001
|
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)
|
rs550006406
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)
|
rs201737322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys)
|
rs775007896
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)
|
rs117364872
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
|
rs768672275
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)
|
rs1338012833
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys)
|
rs1196015536
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg)
|
rs1966513057
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg)
|
rs752772082
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)
|
rs768030202
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)
|
rs1480250597
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)
|
rs181022346
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)
|
rs371616177
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3220+17A>C
|
rs1204073957
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr)
|
rs539084201
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3432+6T>G
|
rs543688285
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)
|
rs886038619
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)
|
rs746806282
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)
|
rs905516252
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile)
|
rs781401167
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys)
|
rs1963624413
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)
|
rs764832127
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)
|
rs776310931
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)
|
rs769611947
|
0.00001
|
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)
|
rs1167981125
|
0.00001
|
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His)
|
rs1970020650
|
0.00001
|
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln)
|
rs916661298
|
0.00001
|
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp)
|
rs775767366
|
0.00001
|
NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His)
|
rs180883554
|
0.00001
|
NM_015378.4(VPS13D):c.9196C>A (p.Leu3066Met)
|
rs201819449
|
0.00001
|
NM_015378.4(VPS13D):c.9304C>G (p.Pro3102Ala)
|
rs1465369949
|
0.00001
|
NM_016169.4(SUFU):c.*1145A>G
|
rs1190732664
|
0.00001
|
NM_016169.4(SUFU):c.*2278C>G
|
rs530131484
|
0.00001
|
NM_016169.4(SUFU):c.*2475C>T
|
rs886046661
|
0.00001
|
NM_016169.4(SUFU):c.*3045A>G
|
rs185874880
|
0.00001
|
NM_016169.4(SUFU):c.*305C>A
|
rs1430494184
|
0.00001
|
NM_016169.4(SUFU):c.*405G>A
|
rs2063829258
|
0.00001
|
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe)
|
rs757401093
|
0.00001
|
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)
|
rs773037813
|
0.00001
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
NM_016169.4(SUFU):c.1022+6T>C
|
rs1216584462
|
0.00001
|
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)
|
rs587778699
|
0.00001
|
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)
|
rs751728820
|
0.00001
|
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln)
|
rs1590082116
|
0.00001
|
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln)
|
rs1447671524
|
0.00001
|
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr)
|
rs1464341550
|
0.00001
|
NM_016169.4(SUFU):c.1073A>G (p.His358Arg)
|
rs1432365875
|
0.00001
|
NM_016169.4(SUFU):c.107C>T (p.Ala36Val)
|
rs566714720
|
0.00001
|
NM_016169.4(SUFU):c.1085G>A (p.Arg362His)
|
rs755390277
|
0.00001
|
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met)
|
rs1554854578
|
0.00001
|
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln)
|
rs749802616
|
0.00001
|
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser)
|
rs375419295
|
0.00001
|
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys)
|
rs767814106
|
0.00001
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)
|
rs1554854758
|
0.00001
|
NM_016169.4(SUFU):c.124C>T (p.Arg42Cys)
|
rs2062292519
|
0.00001
|
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)
|
rs766370528
|
0.00001
|
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn)
|
rs1311816626
|
0.00001
|
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile)
|
rs773805575
|
0.00001
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn)
|
rs147404195
|
0.00001
|
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)
|
rs948353979
|
0.00001
|
NM_016169.4(SUFU):c.1429G>A (p.Val477Met)
|
rs1060501117
|
0.00001
|
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu)
|
rs1479128337
|
0.00001
|
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser)
|
rs200061483
|
0.00001
|
NM_016169.4(SUFU):c.178T>C (p.Tyr60His)
|
rs2062294197
|
0.00001
|
NM_016169.4(SUFU):c.180C>T (p.Tyr60=)
|
rs776945270
|
0.00001
|
NM_016169.4(SUFU):c.183-13T>G
|
rs749913059
|
0.00001
|
NM_016169.4(SUFU):c.217A>C (p.Met73Leu)
|
rs1183694060
|
0.00001
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp)
|
rs775491374
|
0.00001
|
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)
|
rs775491374
|
0.00001
|
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys)
|
rs1464640869
|
0.00001
|
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp)
|
rs1564657066
|
0.00001
|
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys)
|
rs1040654062
|
0.00001
|
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp)
|
rs1188593672
|
0.00001
|
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala)
|
rs1425171528
|
0.00001
|
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)
|
rs1171604398
|
0.00001
|
NM_016169.4(SUFU):c.368G>A (p.Arg123His)
|
rs745958724
|
0.00001
|
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser)
|
rs768935165
|
0.00001
|
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)
|
rs1590019047
|
0.00001
|
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln)
|
rs764847917
|
0.00001
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg)
|
rs1489443369
|
0.00001
|
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser)
|
rs1207697890
|
0.00001
|
NM_016169.4(SUFU):c.562G>A (p.Val188Met)
|
rs1462013962
|
0.00001
|
NM_016169.4(SUFU):c.5C>T (p.Ala2Val)
|
rs1589969719
|
0.00001
|
NM_016169.4(SUFU):c.601G>A (p.Val201Ile)
|
rs147695965
|
0.00001
|
NM_016169.4(SUFU):c.602T>C (p.Val201Ala)
|
rs772840788
|
0.00001
|
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu)
|
rs907135467
|
0.00001
|
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser)
|
rs1178631893
|
0.00001
|
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro)
|
rs1564654422
|
0.00001
|
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly)
|
rs761240106
|
0.00001
|
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)
|
rs2062290972
|
0.00001
|
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser)
|
rs1457485957
|
0.00001
|
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)
|
rs544734275
|
0.00001
|
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn)
|
rs1283509771
|
0.00001
|
NM_016169.4(SUFU):c.750C>A (p.His250Gln)
|
rs1235137905
|
0.00001
|
NM_016169.4(SUFU):c.756+10G>C
|
rs764838079
|
0.00001
|
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys)
|
rs775245784
|
0.00001
|
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser)
|
rs762258680
|
0.00001
|
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly)
|
rs772598822
|
0.00001
|
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)
|
rs761003435
|
0.00001
|
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu)
|
rs752387760
|
0.00001
|
NM_016169.4(SUFU):c.845C>A (p.Pro282His)
|
rs2063472026
|
0.00001
|
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)
|
rs763598499
|
0.00001
|
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys)
|
rs564728455
|
0.00001
|
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr)
|
rs587778698
|
0.00001
|
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser)
|
rs1164574977
|
0.00001
|
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)
|
rs141737156
|
0.00001
|
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys)
|
rs535845342
|
0.00001
|
NM_016169.4(SUFU):c.967G>A (p.Val323Ile)
|
rs1420089970
|
0.00001
|
NM_016169.4(SUFU):c.979A>G (p.Ile327Val)
|
rs752846043
|
0.00001
|
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala)
|
rs1391787041
|
0.00001
|
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu)
|
rs747125633
|
0.00001
|
NM_016373.4(WWOX):c.1010T>C (p.Val337Ala)
|
rs1170717426
|
0.00001
|
NM_016373.4(WWOX):c.1038G>T (p.Arg346Ser)
|
rs781040616
|
0.00001
|
NM_016373.4(WWOX):c.1042T>G (p.Phe348Val)
|
rs768904294
|
0.00001
|
NM_016373.4(WWOX):c.1054A>G (p.Met352Val)
|
rs575317950
|
0.00001
|
NM_016373.4(WWOX):c.107+6G>A
|
rs1276657647
|
0.00001
|
NM_016373.4(WWOX):c.108-3C>T
|
rs1163967827
|
0.00001
|
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr)
|
rs778218106
|
0.00001
|
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly)
|
rs2051755192
|
0.00001
|
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser)
|
rs770628801
|
0.00001
|
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile)
|
rs775460117
|
0.00001
|
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr)
|
rs758746365
|
0.00001
|
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser)
|
rs544760115
|
0.00001
|
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly)
|
rs1316600993
|
0.00001
|
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr)
|
rs375970162
|
0.00001
|
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly)
|
rs2051763292
|
0.00001
|
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp)
|
rs923748427
|
0.00001
|
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter)
|
rs1197462916
|
0.00001
|
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro)
|
rs368397011
|
0.00001
|
NM_016373.4(WWOX):c.177G>C (p.Leu59Phe)
|
rs771850922
|
0.00001
|
NM_016373.4(WWOX):c.184G>A (p.Gly62Arg)
|
rs775696083
|
0.00001
|
NM_016373.4(WWOX):c.193C>A (p.Gln65Lys)
|
rs558101281
|
0.00001
|
NM_016373.4(WWOX):c.211G>A (p.Gly71Arg)
|
rs767880120
|
0.00001
|
NM_016373.4(WWOX):c.286G>A (p.Asp96Asn)
|
rs1461547362
|
0.00001
|
NM_016373.4(WWOX):c.287A>G (p.Asp96Gly)
|
rs776969977
|
0.00001
|
NM_016373.4(WWOX):c.28G>C (p.Asp10His)
|
rs781180473
|
0.00001
|
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)
|
rs770001837
|
0.00001
|
NM_016373.4(WWOX):c.379G>A (p.Val127Ile)
|
rs1183597678
|
0.00001
|
NM_016373.4(WWOX):c.385G>C (p.Val129Leu)
|
rs781732002
|
0.00001
|
NM_016373.4(WWOX):c.409+5G>A
|
rs1305123836
|
0.00001
|
NM_016373.4(WWOX):c.409+6C>G
|
rs780224603
|
0.00001
|
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)
|
rs780345312
|
0.00001
|
NM_016373.4(WWOX):c.500G>A (p.Arg167His)
|
rs377356629
|
0.00001
|
NM_016373.4(WWOX):c.516+3A>G
|
rs200058019
|
0.00001
|
NM_016373.4(WWOX):c.518A>G (p.His173Arg)
|
rs770595933
|
0.00001
|
NM_016373.4(WWOX):c.51G>T (p.Glu17Asp)
|
rs991773402
|
0.00001
|
NM_016373.4(WWOX):c.553G>A (p.Ala185Thr)
|
rs778951309
|
0.00001
|
NM_016373.4(WWOX):c.566G>A (p.Ser189Asn)
|
rs776354746
|
0.00001
|
NM_016373.4(WWOX):c.586G>A (p.Ala196Thr)
|
rs370367979
|
0.00001
|
NM_016373.4(WWOX):c.599A>G (p.Lys200Arg)
|
rs1011606866
|
0.00001
|
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)
|
rs761638116
|
0.00001
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
NM_016373.4(WWOX):c.606-16A>G
|
rs139257288
|
0.00001
|
NM_016373.4(WWOX):c.631G>A (p.Ala211Thr)
|
rs370737224
|
0.00001
|
NM_016373.4(WWOX):c.647T>C (p.Leu216Pro)
|
rs1385370021
|
0.00001
|
NM_016373.4(WWOX):c.656G>A (p.Ser219Asn)
|
rs367599412
|
0.00001
|
NM_016373.4(WWOX):c.666A>C (p.Lys222Asn)
|
rs982171635
|
0.00001
|
NM_016373.4(WWOX):c.667G>A (p.Asp223Asn)
|
rs768734917
|
0.00001
|
NM_016373.4(WWOX):c.670G>A (p.Gly224Ser)
|
rs1349025177
|
0.00001
|
NM_016373.4(WWOX):c.691G>C (p.Val231Leu)
|
rs755974419
|
0.00001
|
NM_016373.4(WWOX):c.698A>T (p.His233Leu)
|
rs1266205670
|
0.00001
|
NM_016373.4(WWOX):c.704G>T (p.Gly235Val)
|
rs1169887175
|
0.00001
|
NM_016373.4(WWOX):c.708C>G (p.His236Gln)
|
rs745681407
|
0.00001
|
NM_016373.4(WWOX):c.715C>G (p.Leu239Val)
|
rs575080327
|
0.00001
|
NM_016373.4(WWOX):c.737T>C (p.Val246Ala)
|
rs200966505
|
0.00001
|
NM_016373.4(WWOX):c.763G>A (p.Val255Ile)
|
rs765590833
|
0.00001
|
NM_016373.4(WWOX):c.766A>G (p.Ile256Val)
|
rs1023419687
|
0.00001
|
NM_016373.4(WWOX):c.812C>T (p.Ser271Phe)
|
rs758222414
|
0.00001
|
NM_016373.4(WWOX):c.818G>A (p.Gly273Glu)
|
rs756228469
|
0.00001
|
NM_016373.4(WWOX):c.828C>G (p.Asp276Glu)
|
rs372225190
|
0.00001
|
NM_016373.4(WWOX):c.82A>C (p.Lys28Gln)
|
rs771726317
|
0.00001
|
NM_016373.4(WWOX):c.848C>A (p.Thr283Lys)
|
rs1186552961
|
0.00001
|
NM_016373.4(WWOX):c.860A>G (p.Tyr287Cys)
|
rs369890118
|
0.00001
|
NM_016373.4(WWOX):c.870G>A (p.Met290Ile)
|
rs199809390
|
0.00001
|
NM_016373.4(WWOX):c.880A>G (p.Asn294Asp)
|
rs775585652
|
0.00001
|
NM_016373.4(WWOX):c.887C>G (p.Ser296Cys)
|
rs1385421754
|
0.00001
|
NM_016373.4(WWOX):c.914A>G (p.Asn305Ser)
|
rs1224888299
|
0.00001
|
NM_016373.4(WWOX):c.916G>A (p.Glu306Lys)
|
rs1326472012
|
0.00001
|
NM_016373.4(WWOX):c.937C>G (p.Pro313Ala)
|
rs370345936
|
0.00001
|
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys)
|
rs781683643
|
0.00001
|
NM_016373.4(WWOX):c.947T>C (p.Val316Ala)
|
rs1476364680
|
0.00001
|
NM_016373.4(WWOX):c.971G>A (p.Gly324Glu)
|
rs766163069
|
0.00001
|
NM_016373.4(WWOX):c.980T>C (p.Met327Thr)
|
rs1567570484
|
0.00001
|
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)
|
rs746833923
|
0.00001
|
NM_016464.5(TMEM138):c.-17G>A
|
rs757369483
|
0.00001
|
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp)
|
rs766349558
|
0.00001
|
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr)
|
rs767361822
|
0.00001
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
0.00001
|
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser)
|
rs934639615
|
0.00001
|
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)
|
rs775913576
|
0.00001
|
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile)
|
rs1398724919
|
0.00001
|
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln)
|
rs566960742
|
0.00001
|
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr)
|
rs1171835963
|
0.00001
|
NM_016614.3(TDP2):c.97G>T (p.Ala33Ser)
|
rs760554150
|
0.00001
|
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)
|
rs745809472
|
0.00001
|
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)
|
rs587779734
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)
|
rs760184188
|
0.00001
|
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)
|
rs754930606
|
0.00001
|
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)
|
rs1003579700
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)
|
rs749668169
|
0.00001
|
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
NM_017791.3(FLVCR2):c.*893T>C
|
rs1890444124
|
0.00001
|
NM_017791.3(FLVCR2):c.*952T>G
|
rs747845375
|
0.00001
|
NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs)
|
rs779784201
|
0.00001
|
NM_017791.3(FLVCR2):c.1474C>T (p.Arg492Trp)
|
rs139495418
|
0.00001
|
NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg)
|
rs767398242
|
0.00001
|
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle)
|
rs746459536
|
0.00001
|
NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr)
|
rs886050786
|
0.00001
|
NM_017791.3(FLVCR2):c.69G>A (p.Ala23=)
|
rs1888525051
|
0.00001
|
NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg)
|
rs768707435
|
0.00001
|
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg)
|
rs267606823
|
0.00001
|
NM_017791.3(FLVCR2):c.947C>G (p.Thr316Ser)
|
rs779117746
|
0.00001
|
NM_018075.5(ANO10):c.*237G>C
|
rs904271838
|
0.00001
|
NM_018075.5(ANO10):c.-102C>A
|
rs886058484
|
0.00001
|
NM_018075.5(ANO10):c.1493A>G (p.Tyr498Cys)
|
rs145543748
|
0.00001
|
NM_018075.5(ANO10):c.1628G>A (p.Arg543His)
|
rs372086237
|
0.00001
|
NM_018075.5(ANO10):c.1923G>A (p.Lys641=)
|
rs1260794121
|
0.00001
|
NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys)
|
rs886058480
|
0.00001
|
NM_018075.5(ANO10):c.676G>A (p.Ala226Thr)
|
rs188443010
|
0.00001
|
NM_018075.5(ANO10):c.802A>G (p.Met268Val)
|
rs372215383
|
0.00001
|
NM_018075.5(ANO10):c.853C>T (p.Arg285Trp)
|
rs767044966
|
0.00001
|
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu)
|
rs1176487325
|
0.00001
|
NM_018319.3(TDP1):c.-278C>T
|
rs886050880
|
0.00001
|
NM_018319.4(TDP1):c.*1239T>C
|
rs1387359215
|
0.00001
|
NM_018319.4(TDP1):c.*1367A>G
|
rs1462755052
|
0.00001
|
NM_018319.4(TDP1):c.*774G>A
|
rs372910082
|
0.00001
|
NM_018319.4(TDP1):c.-38G>A
|
rs1037056557
|
0.00001
|
NM_018319.4(TDP1):c.643T>C (p.Tyr215His)
|
rs754702237
|
0.00001
|
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu)
|
rs1428279795
|
0.00001
|
NM_018319.4(TDP1):c.84A>G (p.Pro28=)
|
rs1596498067
|
0.00001
|
NM_018319.4(TDP1):c.896del (p.Ser299fs)
|
rs773960264
|
0.00001
|
NM_018718.3(CEP41):c.*1205G>T
|
rs1554415397
|
0.00001
|
NM_018718.3(CEP41):c.*1766T>C
|
rs1211217706
|
0.00001
|
NM_018718.3(CEP41):c.*2159C>T
|
rs886061995
|
0.00001
|
NM_018718.3(CEP41):c.*2709G>A
|
rs1342689782
|
0.00001
|
NM_018718.3(CEP41):c.*4505G>T
|
rs1554413676
|
0.00001
|
NM_018718.3(CEP41):c.*4994T>C
|
rs527933839
|
0.00001
|
NM_018718.3(CEP41):c.*55G>A
|
rs782471506
|
0.00001
|
NM_018718.3(CEP41):c.*832A>C
|
rs1554415585
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln)
|
rs782089459
|
0.00001
|
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
|
rs782590600
|
0.00001
|
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val)
|
rs781832103
|
0.00001
|
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)
|
rs587780311
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_018718.3(CEP41):c.145+3A>G
|
rs782008140
|
0.00001
|
NM_018718.3(CEP41):c.145+5G>A
|
rs1413177096
|
0.00001
|
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu)
|
rs1554419921
|
0.00001
|
NM_018718.3(CEP41):c.164A>T (p.Asp55Val)
|
rs782776244
|
0.00001
|
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
|
rs782426353
|
0.00001
|
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
|
rs1554417870
|
0.00001
|
NM_018718.3(CEP41):c.308C>T (p.Ala103Val)
|
rs369687508
|
0.00001
|
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu)
|
rs111688621
|
0.00001
|
NM_018718.3(CEP41):c.565A>G (p.Ile189Val)
|
rs782591147
|
0.00001
|
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys)
|
rs782466306
|
0.00001
|
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
|
rs1554416667
|
0.00001
|
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)
|
rs782815662
|
0.00001
|
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp)
|
rs782729874
|
0.00001
|
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)
|
rs782435349
|
0.00001
|
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu)
|
rs782474335
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
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.6769C>T (p.Arg2257Trp)
|
rs1444290546
|
0.00001
|
NM_020247.5(COQ8A):c.*150C>T
|
rs755137919
|
0.00001
|
NM_020247.5(COQ8A):c.*184G>C
|
rs548257684
|
0.00001
|
NM_020247.5(COQ8A):c.*22C>T
|
rs374941896
|
0.00001
|
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala)
|
rs750053661
|
0.00001
|
NM_020247.5(COQ8A):c.1533G>A (p.Thr511=)
|
rs201337210
|
0.00001
|
NM_020247.5(COQ8A):c.1659+14C>T
|
rs1444332878
|
0.00001
|
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=)
|
rs7545723
|
0.00001
|
NM_020247.5(COQ8A):c.297C>T (p.Pro99=)
|
rs543084403
|
0.00001
|
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln)
|
rs751042244
|
0.00001
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala)
|
rs760349295
|
0.00001
|
NM_020366.4(RPGRIP1):c.3238+3A>G
|
rs1389509266
|
0.00001
|
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)
|
rs761391551
|
0.00001
|
NM_021830.5(TWNK):c.*367A>G
|
rs62626296
|
0.00001
|
NM_021830.5(TWNK):c.*619G>A
|
rs886046637
|
0.00001
|
NM_021830.5(TWNK):c.*763T>C
|
rs886046639
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1244-14C>T
|
rs758757135
|
0.00001
|
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe)
|
rs1382315425
|
0.00001
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223
|
0.00001
|
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)
|
rs886046632
|
0.00001
|
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)
|
rs753457416
|
0.00001
|
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp)
|
rs727504153
|
0.00001
|
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly)
|
rs879437180
|
0.00001
|
NM_022464.5(SIL1):c.648G>C (p.Met216Ile)
|
rs538181924
|
0.00001
|
NM_022464.5(SIL1):c.741G>A (p.Ala247=)
|
rs773520401
|
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_025114.4(CEP290):c.-203C>A
|
rs961052158
|
0.00001
|
NM_025114.4(CEP290):c.-38G>C
|
rs886049886
|
0.00001
|
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)
|
rs891165640
|
0.00001
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn)
|
rs750163383
|
0.00001
|
NM_025114.4(CEP290):c.1623+2C>A
|
rs2039218006
|
0.00001
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)
|
rs770829686
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
|
rs951351175
|
0.00001
|
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)
|
rs1000757966
|
0.00001
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly)
|
rs886049882
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp)
|
rs1265448566
|
0.00001
|
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
|
rs928926898
|
0.00001
|
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)
|
rs1276779845
|
0.00001
|
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)
|
rs760934388
|
0.00001
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)
|
rs1159465602
|
0.00001
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr)
|
rs1460182061
|
0.00001
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val)
|
rs2036709987
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4302+5G>A
|
rs1013125589
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
0.00001
|
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)
|
rs760059883
|
0.00001
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)
|
rs773591434
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
|
rs1354836663
|
0.00001
|
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp)
|
rs886043119
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
0.00001
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
0.00001
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
NM_033064.5(ATCAY):c.*1181G>A
|
rs530991790
|
0.00001
|
NM_033064.5(ATCAY):c.*2356C>T
|
rs886054425
|
0.00001
|
NM_033064.5(ATCAY):c.*3124C>T
|
rs2039079791
|
0.00001
|
NM_033064.5(ATCAY):c.*612C>T
|
rs2039056211
|
0.00001
|
NM_033064.5(ATCAY):c.-176C>T
|
rs911941440
|
0.00001
|
NM_033064.5(ATCAY):c.-41-13G>A
|
rs529428286
|
0.00001
|
NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser)
|
rs756401076
|
0.00001
|
NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr)
|
rs756591751
|
0.00001
|
NM_033064.5(ATCAY):c.402C>T (p.Ser134=)
|
rs564040857
|
0.00001
|
NM_144992.5(VWA3B):c.2243A>G (p.Asn748Ser)
|
rs1037456370
|
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_152617.4(RNF168):c.237A>G (p.Ile79Met)
|
rs148808853
|
0.00001
|
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs)
|
rs1584279870
|
0.00001
|
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)
|
rs769611275
|
0.00001
|
NM_152703.5(SAMD9L):c.748G>T (p.Val250Phe)
|
rs1451330701
|
0.00001
|
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg)
|
rs1455416289
|
0.00001
|
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
|
rs774701716
|
0.00001
|
NM_153704.6(TMEM67):c.2100+3A>G
|
rs376417882
|
0.00001
|
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr)
|
rs947256938
|
0.00001
|
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val)
|
rs762351497
|
0.00001
|
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val)
|
rs199874479
|
0.00001
|
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe)
|
rs375047471
|
0.00001
|
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)
|
rs146838062
|
0.00001
|
NM_153704.6(TMEM67):c.638G>A (p.Arg213His)
|
rs770605718
|
0.00001
|
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)
|
rs767886819
|
0.00001
|
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu)
|
rs371462532
|
0.00001
|
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)
|
rs1376394849
|
0.00001
|
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met)
|
rs779950527
|
0.00001
|
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly)
|
rs750006477
|
0.00001
|
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro)
|
rs777542453
|
0.00001
|
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser)
|
rs758491411
|
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_182961.4(SYNE1):c.*138A>G
|
rs2051574407
|
0.00001
|
NM_182961.4(SYNE1):c.*166G>A
|
rs958754447
|
0.00001
|
NM_182961.4(SYNE1):c.*181C>T
|
rs150886628
|
0.00001
|
NM_182961.4(SYNE1):c.*368T>C
|
rs927168592
|
0.00001
|
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln)
|
rs773410652
|
0.00001
|
NM_182961.4(SYNE1):c.10093A>G (p.Ser3365Gly)
|
rs545457219
|
0.00001
|
NM_182961.4(SYNE1):c.10178G>A (p.Ser3393Asn)
|
rs1221490895
|
0.00001
|
NM_182961.4(SYNE1):c.10196G>A (p.Arg3399Gln)
|
rs368647352
|
0.00001
|
NM_182961.4(SYNE1):c.10223T>A (p.Met3408Lys)
|
rs1212823311
|
0.00001
|
NM_182961.4(SYNE1):c.1027A>G (p.Asn343Asp)
|
rs1289374962
|
0.00001
|
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu)
|
rs760727534
|
0.00001
|
NM_182961.4(SYNE1):c.1028A>G (p.Asn343Ser)
|
rs372451128
|
0.00001
|
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val)
|
rs1270266905
|
0.00001
|
NM_182961.4(SYNE1):c.10415G>A (p.Arg3472Gln)
|
rs1255278240
|
0.00001
|
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile)
|
rs886043016
|
0.00001
|
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=)
|
rs1246237055
|
0.00001
|
NM_182961.4(SYNE1):c.1063A>G (p.Arg355Gly)
|
rs149532009
|
0.00001
|
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys)
|
rs1485693688
|
0.00001
|
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln)
|
rs751191478
|
0.00001
|
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln)
|
rs1060499769
|
0.00001
|
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr)
|
rs752209637
|
0.00001
|
NM_182961.4(SYNE1):c.10789G>T (p.Val3597Leu)
|
rs1301268425
|
0.00001
|
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser)
|
rs1444678849
|
0.00001
|
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala)
|
rs372327585
|
0.00001
|
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr)
|
rs2098931321
|
0.00001
|
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)
|
rs758415122
|
0.00001
|
NM_182961.4(SYNE1):c.11202G>C (p.Lys3734Asn)
|
rs761089261
|
0.00001
|
NM_182961.4(SYNE1):c.11285G>A (p.Ser3762Asn)
|
rs780889581
|
0.00001
|
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp)
|
rs572106956
|
0.00001
|
NM_182961.4(SYNE1):c.11496A>G (p.Ile3832Met)
|
rs1554518035
|
0.00001
|
NM_182961.4(SYNE1):c.11659G>C (p.Val3887Leu)
|
rs753931727
|
0.00001
|
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)
|
rs775097525
|
0.00001
|
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)
|
rs772794050
|
0.00001
|
NM_182961.4(SYNE1):c.11729G>A (p.Gly3910Glu)
|
rs373095359
|
0.00001
|
NM_182961.4(SYNE1):c.1176G>A (p.Val392=)
|
rs776130961
|
0.00001
|
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys)
|
rs746532554
|
0.00001
|
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn)
|
rs369515853
|
0.00001
|
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)
|
rs761744256
|
0.00001
|
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser)
|
rs780777858
|
0.00001
|
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val)
|
rs886044158
|
0.00001
|
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile)
|
rs754971865
|
0.00001
|
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe)
|
rs1294787806
|
0.00001
|
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)
|
rs767294741
|
0.00001
|
NM_182961.4(SYNE1):c.1228C>G (p.Pro410Ala)
|
rs770374751
|
0.00001
|
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser)
|
rs1201675371
|
0.00001
|
NM_182961.4(SYNE1):c.12308C>T (p.Ser4103Leu)
|
rs376766873
|
0.00001
|
NM_182961.4(SYNE1):c.12422A>C (p.Glu4141Ala)
|
rs1449281199
|
0.00001
|
NM_182961.4(SYNE1):c.1242A>G (p.Ile414Met)
|
rs2098918498
|
0.00001
|
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp)
|
rs1459930095
|
0.00001
|
NM_182961.4(SYNE1):c.12499A>G (p.Ile4167Val)
|
rs769992083
|
0.00001
|
NM_182961.4(SYNE1):c.12541A>C (p.Lys4181Gln)
|
rs2096324088
|
0.00001
|
NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr)
|
rs537532640
|
0.00001
|
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr)
|
rs745331052
|
0.00001
|
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
|
rs200140440
|
0.00001
|
NM_182961.4(SYNE1):c.12844G>C (p.Ala4282Pro)
|
rs1384390262
|
0.00001
|
NM_182961.4(SYNE1):c.12889G>A (p.Asp4297Asn)
|
rs757271177
|
0.00001
|
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu)
|
rs751661906
|
0.00001
|
NM_182961.4(SYNE1):c.12908T>A (p.Ile4303Lys)
|
rs752624372
|
0.00001
|
NM_182961.4(SYNE1):c.12985G>A (p.Glu4329Lys)
|
rs752661205
|
0.00001
|
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg)
|
rs543437113
|
0.00001
|
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His)
|
rs34464554
|
0.00001
|
NM_182961.4(SYNE1):c.13094C>A (p.Pro4365His)
|
rs779970152
|
0.00001
|
NM_182961.4(SYNE1):c.13099A>G (p.Ile4367Val)
|
rs1157664680
|
0.00001
|
NM_182961.4(SYNE1):c.13100T>C (p.Ile4367Thr)
|
rs371405185
|
0.00001
|
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe)
|
rs768553487
|
0.00001
|
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro)
|
rs745789075
|
0.00001
|
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser)
|
rs886042314
|
0.00001
|
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys)
|
rs778601377
|
0.00001
|
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys)
|
rs571224180
|
0.00001
|
NM_182961.4(SYNE1):c.13573A>G (p.Thr4525Ala)
|
rs909205583
|
0.00001
|
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg)
|
rs747550581
|
0.00001
|
NM_182961.4(SYNE1):c.13684G>A (p.Val4562Ile)
|
rs973116936
|
0.00001
|
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro)
|
rs762392590
|
0.00001
|
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
|
rs377099959
|
0.00001
|
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser)
|
rs1362233016
|
0.00001
|
NM_182961.4(SYNE1):c.13952A>T (p.Gln4651Leu)
|
rs374697325
|
0.00001
|
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu)
|
rs1166869172
|
0.00001
|
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys)
|
rs367979558
|
0.00001
|
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp)
|
rs1469601635
|
0.00001
|
NM_182961.4(SYNE1):c.14140G>A (p.Asp4714Asn)
|
rs765759628
|
0.00001
|
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile)
|
rs952688216
|
0.00001
|
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr)
|
rs759856569
|
0.00001
|
NM_182961.4(SYNE1):c.14189T>A (p.Val4730Glu)
|
rs141752799
|
0.00001
|
NM_182961.4(SYNE1):c.14225G>A (p.Ser4742Asn)
|
rs763637795
|
0.00001
|
NM_182961.4(SYNE1):c.14341C>G (p.Gln4781Glu)
|
rs750831528
|
0.00001
|
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu)
|
rs764205112
|
0.00001
|
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=)
|
rs758516967
|
0.00001
|
NM_182961.4(SYNE1):c.14485G>A (p.Gly4829Arg)
|
rs1278211656
|
0.00001
|
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)
|
rs747838657
|
0.00001
|
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val)
|
rs931699788
|
0.00001
|
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser)
|
rs1237053788
|
0.00001
|
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)
|
rs1159750019
|
0.00001
|
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His)
|
rs150266354
|
0.00001
|
NM_182961.4(SYNE1):c.14722A>C (p.Ser4908Arg)
|
rs750417575
|
0.00001
|
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe)
|
rs555355654
|
0.00001
|
NM_182961.4(SYNE1):c.14833A>C (p.Ser4945Arg)
|
rs2096203231
|
0.00001
|
NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr)
|
rs1392726878
|
0.00001
|
NM_182961.4(SYNE1):c.14948C>T (p.Thr4983Ile)
|
rs765961446
|
0.00001
|
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His)
|
rs890021376
|
0.00001
|
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys)
|
rs753602210
|
0.00001
|
NM_182961.4(SYNE1):c.15106A>G (p.Met5036Val)
|
rs755539687
|
0.00001
|
NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln)
|
rs533927341
|
0.00001
|
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser)
|
rs373690809
|
0.00001
|
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=)
|
rs370314344
|
0.00001
|
NM_182961.4(SYNE1):c.15245G>A (p.Ser5082Asn)
|
rs760935405
|
0.00001
|
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr)
|
rs750676780
|
0.00001
|
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=)
|
rs780437149
|
0.00001
|
NM_182961.4(SYNE1):c.15366G>T (p.Lys5122Asn)
|
rs764169067
|
0.00001
|
NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu)
|
rs771550432
|
0.00001
|
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln)
|
rs544309811
|
0.00001
|
NM_182961.4(SYNE1):c.15557C>A (p.Thr5186Asn)
|
rs768676733
|
0.00001
|
NM_182961.4(SYNE1):c.15587G>A (p.Arg5196Gln)
|
rs752229373
|
0.00001
|
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu)
|
rs764500952
|
0.00001
|
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln)
|
rs201750136
|
0.00001
|
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro)
|
rs537825329
|
0.00001
|
NM_182961.4(SYNE1):c.15917+9G>A
|
rs779265988
|
0.00001
|
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser)
|
rs779313924
|
0.00001
|
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln)
|
rs1233067296
|
0.00001
|
NM_182961.4(SYNE1):c.16237-10A>T
|
rs201078255
|
0.00001
|
NM_182961.4(SYNE1):c.16294C>T (p.Arg5432Trp)
|
rs575137601
|
0.00001
|
NM_182961.4(SYNE1):c.16313C>T (p.Ala5438Val)
|
rs1229397934
|
0.00001
|
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala)
|
rs148295255
|
0.00001
|
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly)
|
rs747824937
|
0.00001
|
NM_182961.4(SYNE1):c.16544C>G (p.Ala5515Gly)
|
rs1021830711
|
0.00001
|
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp)
|
rs769306377
|
0.00001
|
NM_182961.4(SYNE1):c.16601A>C (p.Glu5534Ala)
|
rs1313738847
|
0.00001
|
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg)
|
rs928178334
|
0.00001
|
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=)
|
rs142010074
|
0.00001
|
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln)
|
rs746879340
|
0.00001
|
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys)
|
rs749088509
|
0.00001
|
NM_182961.4(SYNE1):c.169A>G (p.Met57Val)
|
rs1031712545
|
0.00001
|
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=)
|
rs573806608
|
0.00001
|
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys)
|
rs1227780117
|
0.00001
|
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr)
|
rs759609921
|
0.00001
|
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser)
|
rs774018511
|
0.00001
|
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
|
rs762422242
|
0.00001
|
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln)
|
rs754105532
|
0.00001
|
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr)
|
rs775815795
|
0.00001
|
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val)
|
rs987594036
|
0.00001
|
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln)
|
rs2095193468
|
0.00001
|
NM_182961.4(SYNE1):c.17544G>A (p.Met5848Ile)
|
rs766625615
|
0.00001
|
NM_182961.4(SYNE1):c.17564C>T (p.Thr5855Ile)
|
rs1336941426
|
0.00001
|
NM_182961.4(SYNE1):c.17624C>A (p.Ser5875Tyr)
|
rs1043563187
|
0.00001
|
NM_182961.4(SYNE1):c.17912C>G (p.Ser5971Cys)
|
rs753835774
|
0.00001
|
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr)
|
rs375798794
|
0.00001
|
NM_182961.4(SYNE1):c.17980_17988del (p.Arg5994_Pro5996del)
|
rs2094716921
|
0.00001
|
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser)
|
rs774683772
|
0.00001
|
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln)
|
rs745822192
|
0.00001
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00001
|
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser)
|
rs557248018
|
0.00001
|
NM_182961.4(SYNE1):c.18113C>T (p.Ala6038Val)
|
rs752183118
|
0.00001
|
NM_182961.4(SYNE1):c.18137C>T (p.Thr6046Met)
|
rs372219741
|
0.00001
|
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys)
|
rs1279573379
|
0.00001
|
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile)
|
rs899182753
|
0.00001
|
NM_182961.4(SYNE1):c.18326C>T (p.Ala6109Val)
|
rs549373990
|
0.00001
|
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)
|
rs764725032
|
0.00001
|
NM_182961.4(SYNE1):c.18573+3G>A
|
rs886044046
|
0.00001
|
NM_182961.4(SYNE1):c.18594G>C (p.Glu6198Asp)
|
rs776024100
|
0.00001
|
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=)
|
rs552884641
|
0.00001
|
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro)
|
rs538161615
|
0.00001
|
NM_182961.4(SYNE1):c.18745C>T (p.Arg6249Cys)
|
rs1270352436
|
0.00001
|
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro)
|
rs371489057
|
0.00001
|
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys)
|
rs139449273
|
0.00001
|
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His)
|
rs752272082
|
0.00001
|
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu)
|
rs141196768
|
0.00001
|
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala)
|
rs965275563
|
0.00001
|
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=)
|
rs762720357
|
0.00001
|
NM_182961.4(SYNE1):c.19124A>G (p.Gln6375Arg)
|
rs909589026
|
0.00001
|
NM_182961.4(SYNE1):c.19223T>C (p.Leu6408Ser)
|
rs758337239
|
0.00001
|
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly)
|
rs1398807335
|
0.00001
|
NM_182961.4(SYNE1):c.19352G>A (p.Arg6451Gln)
|
rs943903359
|
0.00001
|
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn)
|
rs376421422
|
0.00001
|
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe)
|
rs1453005046
|
0.00001
|
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser)
|
rs756816038
|
0.00001
|
NM_182961.4(SYNE1):c.19470+5G>A
|
rs775233950
|
0.00001
|
NM_182961.4(SYNE1):c.19492A>G (p.Thr6498Ala)
|
rs2088379630
|
0.00001
|
NM_182961.4(SYNE1):c.19600A>C (p.Lys6534Gln)
|
rs1377270650
|
0.00001
|
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys)
|
rs369420729
|
0.00001
|
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His)
|
rs375565416
|
0.00001
|
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp)
|
rs766241487
|
0.00001
|
NM_182961.4(SYNE1):c.1984G>A (p.Asp662Asn)
|
rs755573339
|
0.00001
|
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val)
|
rs368088542
|
0.00001
|
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr)
|
rs764885262
|
0.00001
|
NM_182961.4(SYNE1):c.19970A>G (p.Gln6657Arg)
|
rs751964300
|
0.00001
|
NM_182961.4(SYNE1):c.20003C>T (p.Ala6668Val)
|
rs1483994641
|
0.00001
|
NM_182961.4(SYNE1):c.20234A>G (p.Lys6745Arg)
|
rs769256850
|
0.00001
|
NM_182961.4(SYNE1):c.20278A>G (p.Ile6760Val)
|
rs532550838
|
0.00001
|
NM_182961.4(SYNE1):c.20314C>T (p.Leu6772Phe)
|
rs1309947836
|
0.00001
|
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys)
|
rs539439844
|
0.00001
|
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala)
|
rs753654674
|
0.00001
|
NM_182961.4(SYNE1):c.20433A>T (p.Leu6811Phe)
|
rs766238098
|
0.00001
|
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala)
|
rs886043522
|
0.00001
|
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val)
|
rs773506774
|
0.00001
|
NM_182961.4(SYNE1):c.20627C>T (p.Thr6876Met)
|
rs144417950
|
0.00001
|
NM_182961.4(SYNE1):c.20645C>T (p.Ser6882Leu)
|
rs373012438
|
0.00001
|
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys)
|
rs746823107
|
0.00001
|
NM_182961.4(SYNE1):c.20650A>G (p.Ile6884Val)
|
rs752179906
|
0.00001
|
NM_182961.4(SYNE1):c.20762G>A (p.Ser6921Asn)
|
rs372288820
|
0.00001
|
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val)
|
rs191912037
|
0.00001
|
NM_182961.4(SYNE1):c.20836A>G (p.Ile6946Val)
|
rs758767378
|
0.00001
|
NM_182961.4(SYNE1):c.2086G>A (p.Glu696Lys)
|
rs746477050
|
0.00001
|
NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met)
|
rs767422903
|
0.00001
|
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His)
|
rs772675312
|
0.00001
|
NM_182961.4(SYNE1):c.21039+6C>G
|
rs368575705
|
0.00001
|
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala)
|
rs777755452
|
0.00001
|
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro)
|
rs772233604
|
0.00001
|
NM_182961.4(SYNE1):c.2118G>A (p.Met706Ile)
|
rs757676303
|
0.00001
|
NM_182961.4(SYNE1):c.21197A>G (p.Asp7066Gly)
|
rs755014049
|
0.00001
|
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val)
|
rs749058571
|
0.00001
|
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg)
|
rs769405487
|
0.00001
|
NM_182961.4(SYNE1):c.2155A>G (p.Thr719Ala)
|
rs1792916692
|
0.00001
|
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr)
|
rs1257118792
|
0.00001
|
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val)
|
rs763768133
|
0.00001
|
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser)
|
rs1348902701
|
0.00001
|
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu)
|
rs749718460
|
0.00001
|
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=)
|
rs775672135
|
0.00001
|
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe)
|
rs760237153
|
0.00001
|
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile)
|
rs747185019
|
0.00001
|
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe)
|
rs753138419
|
0.00001
|
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
|
rs1029115177
|
0.00001
|
NM_182961.4(SYNE1):c.22163C>T (p.Thr7388Ile)
|
rs938003229
|
0.00001
|
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys)
|
rs751761981
|
0.00001
|
NM_182961.4(SYNE1):c.22304G>A (p.Arg7435His)
|
rs748260996
|
0.00001
|
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=)
|
rs745722568
|
0.00001
|
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val)
|
rs751450784
|
0.00001
|
NM_182961.4(SYNE1):c.22431A>C (p.Gln7477His)
|
rs752421314
|
0.00001
|
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
|
rs762050668
|
0.00001
|
NM_182961.4(SYNE1):c.22543A>G (p.Ile7515Val)
|
rs369260919
|
0.00001
|
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys)
|
rs1383141765
|
0.00001
|
NM_182961.4(SYNE1):c.22693T>C (p.Trp7565Arg)
|
rs1166773141
|
0.00001
|
NM_182961.4(SYNE1):c.22733G>T (p.Trp7578Leu)
|
rs1215390720
|
0.00001
|
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met)
|
rs1257304725
|
0.00001
|
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met)
|
rs748623485
|
0.00001
|
NM_182961.4(SYNE1):c.22771G>A (p.Gly7591Arg)
|
rs886042946
|
0.00001
|
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu)
|
rs540603947
|
0.00001
|
NM_182961.4(SYNE1):c.22834A>G (p.Lys7612Glu)
|
rs1434935687
|
0.00001
|
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu)
|
rs776253447
|
0.00001
|
NM_182961.4(SYNE1):c.22838T>C (p.Val7613Ala)
|
rs1402188826
|
0.00001
|
NM_182961.4(SYNE1):c.22847G>A (p.Arg7616Gln)
|
rs780964504
|
0.00001
|
NM_182961.4(SYNE1):c.22905G>A (p.Ala7635=)
|
rs758511859
|
0.00001
|
NM_182961.4(SYNE1):c.22929G>T (p.Leu7643Phe)
|
rs764300736
|
0.00001
|
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp)
|
rs763100950
|
0.00001
|
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro)
|
rs1350005154
|
0.00001
|
NM_182961.4(SYNE1):c.2300C>T (p.Thr767Ile)
|
rs750186803
|
0.00001
|
NM_182961.4(SYNE1):c.23069G>A (p.Arg7690Gln)
|
rs1204207131
|
0.00001
|
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln)
|
rs200066979
|
0.00001
|
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His)
|
rs750911961
|
0.00001
|
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala)
|
rs374073415
|
0.00001
|
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys)
|
rs1289070478
|
0.00001
|
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe)
|
rs778500015
|
0.00001
|
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
|
rs779568455
|
0.00001
|
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly)
|
rs765427429
|
0.00001
|
NM_182961.4(SYNE1):c.23374C>A (p.Leu7792Ile)
|
rs376844951
|
0.00001
|
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr)
|
rs1391158473
|
0.00001
|
NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln)
|
rs1259951823
|
0.00001
|
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile)
|
rs781532655
|
0.00001
|
NM_182961.4(SYNE1):c.23617A>G (p.Ile7873Val)
|
rs1249661326
|
0.00001
|
NM_182961.4(SYNE1):c.2374C>T (p.Leu792Phe)
|
rs1172072268
|
0.00001
|
NM_182961.4(SYNE1):c.23766A>G (p.Ile7922Met)
|
rs1399057012
|
0.00001
|
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys)
|
rs1178007789
|
0.00001
|
NM_182961.4(SYNE1):c.23890G>A (p.Ala7964Thr)
|
rs780744047
|
0.00001
|
NM_182961.4(SYNE1):c.23893G>A (p.Glu7965Lys)
|
rs753219547
|
0.00001
|
NM_182961.4(SYNE1):c.23918C>T (p.Thr7973Met)
|
rs558928607
|
0.00001
|
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp)
|
rs762991088
|
0.00001
|
NM_182961.4(SYNE1):c.23957T>C (p.Met7986Thr)
|
rs146463833
|
0.00001
|
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys)
|
rs777371816
|
0.00001
|
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=)
|
rs572195368
|
0.00001
|
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)
|
rs267600862
|
0.00001
|
NM_182961.4(SYNE1):c.24004C>G (p.Gln8002Glu)
|
rs1361081346
|
0.00001
|
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His)
|
rs776221173
|
0.00001
|
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His)
|
rs1042685641
|
0.00001
|
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys)
|
rs1380424994
|
0.00001
|
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His)
|
rs1338634888
|
0.00001
|
NM_182961.4(SYNE1):c.24312+8C>G
|
rs780026181
|
0.00001
|
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln)
|
rs777435137
|
0.00001
|
NM_182961.4(SYNE1):c.24401T>C (p.Ile8134Thr)
|
rs774707282
|
0.00001
|
NM_182961.4(SYNE1):c.24424G>T (p.Val8142Phe)
|
rs1389166406
|
0.00001
|
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His)
|
rs775617906
|
0.00001
|
NM_182961.4(SYNE1):c.24535C>A (p.Pro8179Thr)
|
rs2060075935
|
0.00001
|
NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln)
|
rs201193141
|
0.00001
|
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg)
|
rs886042886
|
0.00001
|
NM_182961.4(SYNE1):c.24839C>G (p.Ser8280Cys)
|
rs1480247904
|
0.00001
|
NM_182961.4(SYNE1):c.24949T>C (p.Tyr8317His)
|
rs777322468
|
0.00001
|
NM_182961.4(SYNE1):c.24983A>G (p.His8328Arg)
|
rs1239507497
|
0.00001
|
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln)
|
rs200684943
|
0.00001
|
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His)
|
rs778080338
|
0.00001
|
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=)
|
rs200678102
|
0.00001
|
NM_182961.4(SYNE1):c.25119C>T (p.Tyr8373=)
|
rs144685965
|
0.00001
|
NM_182961.4(SYNE1):c.25132G>A (p.Gly8378Ser)
|
rs780271781
|
0.00001
|
NM_182961.4(SYNE1):c.25144A>G (p.Ser8382Gly)
|
rs1306354261
|
0.00001
|
NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly)
|
rs200377339
|
0.00001
|
NM_182961.4(SYNE1):c.25246+3G>A
|
rs765849365
|
0.00001
|
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu)
|
rs1253032018
|
0.00001
|
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser)
|
rs756645782
|
0.00001
|
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp)
|
rs375616724
|
0.00001
|
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln)
|
rs370008122
|
0.00001
|
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His)
|
rs759577495
|
0.00001
|
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala)
|
rs746452797
|
0.00001
|
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)
|
rs764235096
|
0.00001
|
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg)
|
rs529921934
|
0.00001
|
NM_182961.4(SYNE1):c.25650G>A (p.Met8550Ile)
|
rs1354935363
|
0.00001
|
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)
|
rs747858299
|
0.00001
|
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr)
|
rs760698113
|
0.00001
|
NM_182961.4(SYNE1):c.25724A>T (p.Glu8575Val)
|
rs1258380992
|
0.00001
|
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val)
|
rs200178554
|
0.00001
|
NM_182961.4(SYNE1):c.25736T>C (p.Ile8579Thr)
|
rs370566643
|
0.00001
|
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=)
|
rs751355623
|
0.00001
|
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr)
|
rs1229969547
|
0.00001
|
NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys)
|
rs149045775
|
0.00001
|
NM_182961.4(SYNE1):c.26001+4A>G
|
rs746958913
|
0.00001
|
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn)
|
rs753533241
|
0.00001
|
NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln)
|
rs147829200
|
0.00001
|
NM_182961.4(SYNE1):c.2608A>T (p.Thr870Ser)
|
rs773195787
|
0.00001
|
NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln)
|
rs758942329
|
0.00001
|
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)
|
rs767663894
|
0.00001
|
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)
|
rs751627369
|
0.00001
|
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)
|
rs1276774540
|
0.00001
|
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)
|
rs780574537
|
0.00001
|
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)
|
rs757466963
|
0.00001
|
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)
|
rs550697327
|
0.00001
|
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
|
rs747405346
|
0.00001
|
NM_182961.4(SYNE1):c.2662G>A (p.Val888Met)
|
rs756888254
|
0.00001
|
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu)
|
rs898451919
|
0.00001
|
NM_182961.4(SYNE1):c.269C>T (p.Ala90Val)
|
rs2099133562
|
0.00001
|
NM_182961.4(SYNE1):c.26G>A (p.Arg9Gln)
|
rs1196383268
|
0.00001
|
NM_182961.4(SYNE1):c.2728-5T>A
|
rs775558169
|
0.00001
|
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val)
|
rs376880609
|
0.00001
|
NM_182961.4(SYNE1):c.2807G>A (p.Arg936Gln)
|
rs537794828
|
0.00001
|
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr)
|
rs570242828
|
0.00001
|
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
|
rs1374710512
|
0.00001
|
NM_182961.4(SYNE1):c.3028-4G>A
|
rs1380560355
|
0.00001
|
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser)
|
rs763255748
|
0.00001
|
NM_182961.4(SYNE1):c.310-469C>T
|
rs762351812
|
0.00001
|
NM_182961.4(SYNE1):c.310-485A>G
|
rs764771842
|
0.00001
|
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln)
|
rs199888697
|
0.00001
|
NM_182961.4(SYNE1):c.3168G>T (p.Lys1056Asn)
|
rs144982424
|
0.00001
|
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys)
|
rs771821092
|
0.00001
|
NM_182961.4(SYNE1):c.3186+5G>A
|
rs778578295
|
0.00001
|
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His)
|
rs886061213
|
0.00001
|
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser)
|
rs749547744
|
0.00001
|
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile)
|
rs142734877
|
0.00001
|
NM_182961.4(SYNE1):c.3504+5G>A
|
rs1398879746
|
0.00001
|
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)
|
rs750101869
|
0.00001
|
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe)
|
rs1203451912
|
0.00001
|
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr)
|
rs1226690928
|
0.00001
|
NM_182961.4(SYNE1):c.3643A>C (p.Lys1215Gln)
|
rs370014940
|
0.00001
|
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met)
|
rs767097288
|
0.00001
|
NM_182961.4(SYNE1):c.3740A>G (p.Glu1247Gly)
|
rs908679898
|
0.00001
|
NM_182961.4(SYNE1):c.3762A>T (p.Glu1254Asp)
|
rs745616824
|
0.00001
|
NM_182961.4(SYNE1):c.386T>C (p.Ile129Thr)
|
rs1029244968
|
0.00001
|
NM_182961.4(SYNE1):c.3883C>G (p.Gln1295Glu)
|
rs750865008
|
0.00001
|
NM_182961.4(SYNE1):c.3985G>C (p.Glu1329Gln)
|
rs985588823
|
0.00001
|
NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys)
|
rs770015858
|
0.00001
|
NM_182961.4(SYNE1):c.4192A>G (p.Asn1398Asp)
|
rs758427132
|
0.00001
|
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn)
|
rs202235488
|
0.00001
|
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu)
|
rs1302474521
|
0.00001
|
NM_182961.4(SYNE1):c.4424C>T (p.Ser1475Leu)
|
rs767883709
|
0.00001
|
NM_182961.4(SYNE1):c.4436T>A (p.Met1479Lys)
|
rs1218913029
|
0.00001
|
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly)
|
rs1289977041
|
0.00001
|
NM_182961.4(SYNE1):c.4517A>C (p.Glu1506Ala)
|
rs577388500
|
0.00001
|
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His)
|
rs1378400021
|
0.00001
|
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr)
|
rs750659947
|
0.00001
|
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg)
|
rs573641821
|
0.00001
|
NM_182961.4(SYNE1):c.4609C>G (p.Arg1537Gly)
|
rs983431074
|
0.00001
|
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)
|
rs755101379
|
0.00001
|
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr)
|
rs775729666
|
0.00001
|
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val)
|
rs753598584
|
0.00001
|
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met)
|
rs199797561
|
0.00001
|
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys)
|
rs373448917
|
0.00001
|
NM_182961.4(SYNE1):c.502A>G (p.Ser168Gly)
|
rs776344465
|
0.00001
|
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr)
|
rs1554680800
|
0.00001
|
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro)
|
rs1364310674
|
0.00001
|
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp)
|
rs777175001
|
0.00001
|
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg)
|
rs200766001
|
0.00001
|
NM_182961.4(SYNE1):c.5291T>C (p.Val1764Ala)
|
rs761352115
|
0.00001
|
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr)
|
rs1481121106
|
0.00001
|
NM_182961.4(SYNE1):c.5421+5A>T
|
rs755875029
|
0.00001
|
NM_182961.4(SYNE1):c.5515C>T (p.Leu1839Phe)
|
rs746812274
|
0.00001
|
NM_182961.4(SYNE1):c.5711T>G (p.Leu1904Trp)
|
rs1179461369
|
0.00001
|
NM_182961.4(SYNE1):c.5722G>T (p.Asp1908Tyr)
|
rs369176646
|
0.00001
|
NM_182961.4(SYNE1):c.5831A>G (p.Gln1944Arg)
|
rs1483236627
|
0.00001
|
NM_182961.4(SYNE1):c.5843G>T (p.Cys1948Phe)
|
rs761812821
|
0.00001
|
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala)
|
rs773890189
|
0.00001
|
NM_182961.4(SYNE1):c.5923G>T (p.Ala1975Ser)
|
rs750263410
|
0.00001
|
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val)
|
rs746384499
|
0.00001
|
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile)
|
rs1467783489
|
0.00001
|
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys)
|
rs767563434
|
0.00001
|
NM_182961.4(SYNE1):c.6104T>C (p.Leu2035Pro)
|
rs2098103147
|
0.00001
|
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys)
|
rs746057788
|
0.00001
|
NM_182961.4(SYNE1):c.6407A>G (p.Asn2136Ser)
|
rs754275815
|
0.00001
|
NM_182961.4(SYNE1):c.6416A>G (p.Gln2139Arg)
|
rs1014104831
|
0.00001
|
NM_182961.4(SYNE1):c.6524T>C (p.Val2175Ala)
|
rs376472102
|
0.00001
|
NM_182961.4(SYNE1):c.6646T>C (p.Cys2216Arg)
|
rs1183559257
|
0.00001
|
NM_182961.4(SYNE1):c.6723+5A>C
|
rs755302313
|
0.00001
|
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr)
|
rs371609288
|
0.00001
|
NM_182961.4(SYNE1):c.6883G>A (p.Ala2295Thr)
|
rs758161551
|
0.00001
|
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly)
|
rs777595583
|
0.00001
|
NM_182961.4(SYNE1):c.6977C>T (p.Ser2326Leu)
|
rs752405422
|
0.00001
|
NM_182961.4(SYNE1):c.7030-4G>C
|
rs112853992
|
0.00001
|
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys)
|
rs780033455
|
0.00001
|
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His)
|
rs554035671
|
0.00001
|
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
|
rs140948068
|
0.00001
|
NM_182961.4(SYNE1):c.7364C>T (p.Ser2455Leu)
|
rs969369417
|
0.00001
|
NM_182961.4(SYNE1):c.746A>T (p.Glu249Val)
|
rs750178248
|
0.00001
|
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp)
|
rs773876679
|
0.00001
|
NM_182961.4(SYNE1):c.7525G>T (p.Ala2509Ser)
|
rs748362030
|
0.00001
|
NM_182961.4(SYNE1):c.7537T>G (p.Cys2513Gly)
|
rs1271079717
|
0.00001
|
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys)
|
rs764800126
|
0.00001
|
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys)
|
rs886061209
|
0.00001
|
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys)
|
rs768574390
|
0.00001
|
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile)
|
rs144069436
|
0.00001
|
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln)
|
rs769840610
|
0.00001
|
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys)
|
rs1186798259
|
0.00001
|
NM_182961.4(SYNE1):c.7879G>A (p.Glu2627Lys)
|
rs754203591
|
0.00001
|
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn)
|
rs775185806
|
0.00001
|
NM_182961.4(SYNE1):c.7987C>T (p.Arg2663Trp)
|
rs770461993
|
0.00001
|
NM_182961.4(SYNE1):c.8004+5A>G
|
rs746589347
|
0.00001
|
NM_182961.4(SYNE1):c.8081G>A (p.Ser2694Asn)
|
rs1241632741
|
0.00001
|
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser)
|
rs202207690
|
0.00001
|
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile)
|
rs794727764
|
0.00001
|
NM_182961.4(SYNE1):c.8571T>C (p.His2857=)
|
rs886061207
|
0.00001
|
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp)
|
rs757720748
|
0.00001
|
NM_182961.4(SYNE1):c.863C>T (p.Ala288Val)
|
rs746752458
|
0.00001
|
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met)
|
rs371229610
|
0.00001
|
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His)
|
rs148998248
|
0.00001
|
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn)
|
rs143313866
|
0.00001
|
NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val)
|
rs1202916520
|
0.00001
|
NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val)
|
rs753512972
|
0.00001
|
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn)
|
rs766072795
|
0.00001
|
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys)
|
rs760074927
|
0.00001
|
NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr)
|
rs527822279
|
0.00001
|
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser)
|
rs200939886
|
0.00001
|
NM_182961.4(SYNE1):c.9046A>G (p.Thr3016Ala)
|
rs2097290792
|
0.00001
|
NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser)
|
rs766846025
|
0.00001
|
NM_182961.4(SYNE1):c.9170G>A (p.Gly3057Asp)
|
rs761071366
|
0.00001
|
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser)
|
rs2097283921
|
0.00001
|
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=)
|
rs199554198
|
0.00001
|
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr)
|
rs1591443794
|
0.00001
|
NM_182961.4(SYNE1):c.9355C>T (p.His3119Tyr)
|
rs373615823
|
0.00001
|
NM_182961.4(SYNE1):c.9472C>A (p.His3158Asn)
|
rs1484236534
|
0.00001
|
NM_182961.4(SYNE1):c.9507+6T>C
|
rs372138410
|
0.00001
|
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)
|
rs761121679
|
0.00001
|
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr)
|
rs1398398021
|
0.00001
|
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met)
|
rs587777426
|
0.00001
|
NM_182961.4(SYNE1):c.962A>G (p.Lys321Arg)
|
rs1295360409
|
0.00001
|
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val)
|
rs774469372
|
0.00001
|
NM_182961.4(SYNE1):c.9857C>T (p.Ser3286Phe)
|
rs770774159
|
0.00001
|
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu)
|
rs559031643
|
0.00001
|
NM_182961.4(SYNE1):c.9941G>A (p.Ser3314Asn)
|
rs1188481121
|
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.1501G>A (p.Val501Met)
|
rs764377731
|
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
|
46;XY;t(10;14)(p13;q32.1)dn
|
|
|
GRCh37/hg19 22q11.23(chr22:23720171-25065576)
|
|
|
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
|
|
|
NC_000001.10:g.(?_112524223)_(112525348_?)dup
|
|
|
NC_000002.11:g.(?_202334676)_(202523241_?)dup
|
|
|
NC_000002.11:g.(?_202488978)_(202508123_?)dup
|
|
|
NC_000002.11:g.(?_202496774)_(202498154_?)del
|
|
|
NC_000006.11:g.(?_152443551)_(152534914_?)dup
|
|
|
NC_000006.11:g.(?_152527283)_(152532743_?)del
|
|
|
NC_000006.11:g.(?_152599204)_(152603135_?)dup
|
|
|
NC_000008.10:g.(?_67786376)_(68165857_?)dup
|
|
|
NC_000008.10:g.(?_67976634)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_68015252)_(68015390_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68107828_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68107848_?)dup
|
|
|
NC_000008.10:g.(?_68024197)_(68107828_?)dup
|
|
|
NC_000008.10:g.(?_68070662)_(68071392_?)del
|
|
|
NC_000008.10:g.(?_68105679)_(68105857_?)del
|
|
|
NC_000008.11:g.(?_67010715)_(67064496_?)dup
|
|
|
NC_000008.11:g.(?_67111972)_(67218138_?)dup
|
|
|
NC_000008.11:g.(?_67193464)_(67193602_?)del
|
|
|
NC_000008.11:g.67195383TGA[3]
|
rs772729206
|
|
NC_000009.11:g.(?_135156834)_(135156981_?)del
|
|
|
NC_000009.11:g.(?_135209975)_(135210134_?)dup
|
|
|
NC_000009.12:g.(?_132264229)_(132349438_?)dup
|
|
|
NC_000010.10:g.(?_104262628)_(104309873_?)dup
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)dup
|
|
|
NC_000010.10:g.(?_104375015)_(104389912_?)del
|
|
|
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
|
|
|
NC_000014.8:g.(?_58894347)_(58894375_?)del
|
|
|
NC_000014.8:g.(?_58894347)_(58899195_?)dup
|
|
|
NC_000014.8:g.(?_58894347)_(59014694_?)dup
|
|
|
NC_000014.8:g.(?_58910652)_(58910913_?)del
|
|
|
NC_000014.8:g.(?_59010581)_(59014694_?)dup
|
|
|
NC_000016.10:g.(?_78386840)_(78432772_?)dup
|
|
|
NC_000016.10:g.(?_78386840)_(78624496_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75574092_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75579872_?)dup
|
|
|
NC_000016.9:g.(?_75579704)_(75590169_?)dup
|
|
|
NC_000016.9:g.(?_75589682)_(75690509_?)dup
|
|
|
NC_000016.9:g.(?_78133656)_(78133806_?)dup
|
|
|
NC_000016.9:g.(?_78133656)_(78149071_?)dup
|
|
|
NC_000016.9:g.(?_78133656)_(78458972_?)dup
|
|
|
NC_000016.9:g.(?_78133656)_(78466669_?)dup
|
|
|
NC_000016.9:g.(?_78133656)_(78658393_?)dup
|
|
|
NC_000016.9:g.(?_78133671)_(78466659_?)dup
|
|
|
NC_000016.9:g.(?_78133676)_(78420865_?)dup
|
|
|
NC_000016.9:g.(?_78133676)_(78466669_?)dup
|
|
|
NC_000016.9:g.(?_78312480)_(78466669_?)dup
|
|
|
NC_000016.9:g.(?_78312480)_(78658393_?)dup
|
|
|
NC_012920.1:m.14771C>A
|
rs1556424489
|
|
NC_012920.1:m.9355A>T
|
rs1556423663
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)
|
rs1602349280
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_000370.3(TTPA):c.*1135T>C
|
rs886063062
|
|
NM_000370.3(TTPA):c.*1164A>T
|
rs886063061
|
|
NM_000370.3(TTPA):c.*1176ATA[1]
|
rs548084272
|
|
NM_000370.3(TTPA):c.*1247A>G
|
rs1277245038
|
|
NM_000370.3(TTPA):c.*1394A>G
|
rs886063060
|
|
NM_000370.3(TTPA):c.*1424C>T
|
rs577649057
|
|
NM_000370.3(TTPA):c.*1469ATAA[3]
|
rs773557348
|
|
NM_000370.3(TTPA):c.*1598C>T
|
rs886063059
|
|
NM_000370.3(TTPA):c.*265T>C
|
rs1805296752
|
|
NM_000370.3(TTPA):c.*452T>C
|
rs886063066
|
|
NM_000370.3(TTPA):c.*496T>G
|
rs565583075
|
|
NM_000370.3(TTPA):c.*595C>G
|
rs760669854
|
|
NM_000370.3(TTPA):c.*817G>A
|
rs975457415
|
|
NM_000370.3(TTPA):c.-1C>T
|
rs1349901379
|
|
NM_000370.3(TTPA):c.123G>A (p.Pro41=)
|
rs1368032681
|
|
NM_000370.3(TTPA):c.131C>T (p.Pro44Leu)
|
rs928983374
|
|
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile)
|
rs2129795826
|
|
NM_000370.3(TTPA):c.144C>G (p.Thr48=)
|
rs1805743504
|
|
NM_000370.3(TTPA):c.166C>T (p.Leu56=)
|
rs1482746572
|
|
NM_000370.3(TTPA):c.177G>C (p.Arg59=)
|
rs1805742361
|
|
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp)
|
rs1554524054
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
NM_000370.3(TTPA):c.552G>T (p.Thr184=)
|
rs181109321
|
|
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)
|
rs1554605276
|
|
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile)
|
rs1233515069
|
|
NM_000384.3(APOB):c.12088-23dup
|
rs751121092
|
|
NM_000384.3(APOB):c.2917C>A (p.Leu973Met)
|
rs886055592
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile)
|
rs768221258
|
|
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)
|
rs1564854760
|
|
NM_000391.4(TPP1):c.1243G>A (p.Val415Met)
|
rs2134591998
|
|
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser)
|
rs769487055
|
|
NM_000784.3(CYP27A1):c.-182C>T
|
rs886055628
|
|
NM_000784.4(CYP27A1):c.*153G>C
|
rs886055631
|
|
NM_000784.4(CYP27A1):c.*209G>A
|
rs540140393
|
|
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala)
|
rs759622995
|
|
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
|
|
|
NM_000784.4(CYP27A1):c.1017+15_1017+18del
|
rs1679085939
|
|
NM_000784.4(CYP27A1):c.1017+5G>C
|
rs370304209
|
|
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
|
|
|
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro)
|
rs2106479125
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn)
|
rs2105980881
|
|
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys)
|
rs760471205
|
|
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
|
|
|
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro)
|
rs1463950337
|
|
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg)
|
rs886043798
|
|
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln)
|
rs139426361
|
|
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
|
|
|
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu)
|
rs2105980922
|
|
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp)
|
rs1559384559
|
|
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu)
|
rs1559384559
|
|
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
|
|
|
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp)
|
rs369969903
|
|
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys)
|
rs536176295
|
|
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu)
|
rs1943755995
|
|
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
|
|
|
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
|
|
|
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
|
|
|
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met)
|
rs2105980957
|
|
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)
|
rs1553616443
|
|
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
|
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1184+3A>G
|
rs1943757633
|
|
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala)
|
rs2105981055
|
|
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
|
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
|
|
|
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe)
|
rs1943764288
|
|
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
|
|
|
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
|
|
|
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly)
|
rs2105981100
|
|
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala)
|
rs755343859
|
|
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
|
|
|
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg)
|
rs2106479143
|
|
NM_000784.4(CYP27A1):c.1263+10del
|
rs765426068
|
|
NM_000784.4(CYP27A1):c.1263+5G>A
|
|
|
NM_000784.4(CYP27A1):c.1264-14A>G
|
rs1285698631
|
|
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
|
|
|
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
|
|
|
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr)
|
rs749202662
|
|
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser)
|
rs774127681
|
|
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
|
|
|
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
|
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
|
|
|
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
|
|
|
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala)
|
rs753166698
|
|
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
|
|
|
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser)
|
rs730882199
|
|
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
|
|
|
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val)
|
rs1039198612
|
|
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
|
|
|
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys)
|
rs2105981257
|
|
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp)
|
rs777432192
|
|
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val)
|
rs777432192
|
|
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu)
|
rs2105981259
|
|
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
|
|
|
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu)
|
rs200883871
|
|
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr)
|
rs1372707807
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
|
|
|
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
|
|
|
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr)
|
rs2105981320
|
|
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
|
|
|
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His)
|
rs2105981325
|
|
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val)
|
rs1024898619
|
|
NM_000784.4(CYP27A1):c.1477-3C>A
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-3C>G
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-3C>T
|
rs78938783
|
|
NM_000784.4(CYP27A1):c.1477-8C>G
|
|
|
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
|
|
|
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp)
|
rs1943396793
|
|
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu)
|
rs776752717
|
|
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg)
|
rs1400183633
|
|
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
|
|
|
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe)
|
rs970661282
|
|
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
|
|
|
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro)
|
rs1333445399
|
|
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
|
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu)
|
rs2105981476
|
|
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val)
|
rs1178180058
|
|
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
|
|
|
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
|
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
|
|
|
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
|
|
|
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
|
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly)
|
rs757522001
|
|
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
|
|
|
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg)
|
rs911127639
|
|
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs)
|
rs1553616552
|
|
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly)
|
rs1943775075
|
|
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?)
|
rs1553616555
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
|
|
|
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
|
|
|
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
|
|
|
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
|
|
|
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro)
|
rs1191317525
|
|
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys)
|
rs1943400890
|
|
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)
|
rs1446633660
|
|
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
|
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu)
|
rs2106479175
|
|
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
|
|
|
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
|
|
|
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
|
|
|
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
|
|
|
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
|
|
|
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
|
|
|
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly)
|
rs867496731
|
|
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu)
|
rs2106479200
|
|
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
|
|
|
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
|
|
|
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe)
|
rs1170171291
|
|
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
|
|
|
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
|
|
|
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
|
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln)
|
rs753981913
|
|
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met)
|
rs374769409
|
|
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
|
|
|
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly)
|
rs1441761338
|
|
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg)
|
rs531504325
|
|
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
|
|
|
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
|
rs1943690611
|
|
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
|
|
|
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
|
|
|
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
|
|
|
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
|
|
|
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
|
|
|
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
|
|
|
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
|
|
|
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
|
|
|
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)
|
rs1943692342
|
|
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
|
|
|
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln)
|
rs139415581
|
|
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
|
|
|
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
|
|
|
NM_000784.4(CYP27A1):c.447-3C>A
|
|
|
NM_000784.4(CYP27A1):c.447-3C>T
|
rs770217459
|
|
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro)
|
rs768932304
|
|
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
|
|
|
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro)
|
rs1270373689
|
|
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
|
|
|
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr)
|
rs2105979908
|
|
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val)
|
rs759338714
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del)
|
rs1553614280
|
|
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu)
|
rs200753815
|
|
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
|
|
|
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
|
|
|
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val)
|
rs773103625
|
|
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys)
|
rs1943725580
|
|
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
|
|
|
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
|
|
|
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
|
|
|
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala)
|
rs1203579586
|
|
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
|
|
|
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg)
|
rs2105980019
|
|
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=)
|
rs2105980020
|
|
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr)
|
rs1943727741
|
|
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
|
|
|
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser)
|
rs2105980045
|
|
NM_000784.4(CYP27A1):c.647-3C>A
|
rs1943729710
|
|
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu)
|
rs886042256
|
|
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn)
|
rs1559392536
|
|
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln)
|
rs760323157
|
|
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
|
|
|
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg)
|
rs1553616268
|
|
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
|
|
|
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr)
|
rs2105980154
|
|
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
|
rs1943733556
|
|
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn)
|
rs144068826
|
|
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
|
|
|
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile)
|
rs369660141
|
|
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
|
|
|
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup)
|
rs1553616276
|
|
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
|
|
|
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
|
|
|
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
|
|
|
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
|
|
|
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys)
|
rs2105980216
|
|
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe)
|
rs763461546
|
|
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del)
|
rs1188925314
|
|
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His)
|
rs757682669
|
|
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu)
|
rs757682669
|
|
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
|
|
|
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg)
|
rs535323883
|
|
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala)
|
rs1167915356
|
|
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys)
|
rs774999308
|
|
NM_000784.4(CYP27A1):c.844+4A>G
|
rs1016174396
|
|
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
|
|
|
NM_000784.4(CYP27A1):c.844+6G>A
|
rs1943737223
|
|
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
|
|
|
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
|
|
|
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys)
|
rs2105980394
|
|
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe)
|
rs2105980402
|
|
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
|
|
|
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu)
|
rs1412455358
|
|
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
|
|
|
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val)
|
rs1417655712
|
|
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
|
rs1943740072
|
|
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
|
|
|
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
|
|
|
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe)
|
rs2105980439
|
|
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
|
|
|
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro)
|
rs1275856308
|
|
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
|
|
|
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys)
|
rs2105980462
|
|
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
|
|
|
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
|
|
|
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr)
|
rs1275043449
|
|
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser)
|
rs1399829248
|
|
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
|
|
|
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
|
|
|
NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)
|
|
|
NM_000924.4(PDE1B):c.735+5G>A
|
|
|
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu)
|
rs2090483867
|
|
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg)
|
rs782081961
|
|
NM_001001344.3(ATP2B3):c.2541C>G (p.Asp847Glu)
|
|
|
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile)
|
rs1569535623
|
|
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp)
|
rs1227019809
|
|
NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)
|
|
|
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
|
|
|
NM_001001344.3(ATP2B3):c.971A>G (p.Asp324Gly)
|
|
|
NM_001005920.4(JMJD8):c.*1009T>C
|
rs2151505130
|
|
NM_001005920.4(JMJD8):c.*903G>C
|
rs1567281056
|
|
NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)
|
|
|
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr)
|
rs1017436032
|
|
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.3283G>A (p.Glu1095Lys)
|
rs1639226190
|
|
NM_001020658.2(PUM1):c.364G>A (p.Val122Met)
|
rs1643312973
|
|
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_001044385.3(TMEM237):c.*1303G>A
|
rs886055444
|
|
NM_001044385.3(TMEM237):c.*1436G>T
|
rs528180812
|
|
NM_001044385.3(TMEM237):c.*1606T>C
|
rs1000633418
|
|
NM_001044385.3(TMEM237):c.*1879G>A
|
rs1301264448
|
|
NM_001044385.3(TMEM237):c.*1890G>A
|
rs191383267
|
|
NM_001044385.3(TMEM237):c.*2307A>G
|
rs1957712077
|
|
NM_001044385.3(TMEM237):c.*2448C>A
|
rs1234909902
|
|
NM_001044385.3(TMEM237):c.*2582G>T
|
rs886055439
|
|
NM_001044385.3(TMEM237):c.*2626T>C
|
rs1957709069
|
|
NM_001044385.3(TMEM237):c.*2652A>G
|
rs1957708713
|
|
NM_001044385.3(TMEM237):c.*2670C>T
|
rs1559581980
|
|
NM_001044385.3(TMEM237):c.*2682G>C
|
rs886055438
|
|
NM_001044385.3(TMEM237):c.*283A>C
|
rs886055446
|
|
NM_001044385.3(TMEM237):c.*3013A>G
|
rs886055437
|
|
NM_001044385.3(TMEM237):c.*303C>T
|
rs1957734276
|
|
NM_001044385.3(TMEM237):c.*3350A>T
|
rs561312621
|
|
NM_001044385.3(TMEM237):c.*4020T>A
|
rs886055435
|
|
NM_001044385.3(TMEM237):c.*62A>G
|
rs1957736360
|
|
NM_001044385.3(TMEM237):c.*663G>C
|
rs940503609
|
|
NM_001044385.3(TMEM237):c.*781G>A
|
rs1957729006
|
|
NM_001044385.3(TMEM237):c.*895C>G
|
rs1957727656
|
|
NM_001044385.3(TMEM237):c.*940A>C
|
rs1957727275
|
|
NM_001044385.3(TMEM237):c.-67T>G
|
rs886055450
|
|
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
|
|
|
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
|
|
|
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
|
|
|
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu)
|
rs1957756642
|
|
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
|
rs138509553
|
|
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
|
rs1957756375
|
|
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
|
|
|
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys)
|
rs886055447
|
|
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
|
|
|
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
|
|
|
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn)
|
rs1362249907
|
|
NM_001044385.3(TMEM237):c.1159+3A>G
|
rs754717992
|
|
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs)
|
rs763176756
|
|
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
|
rs1957737864
|
|
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1])
|
rs765428296
|
|
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
|
rs761770686
|
|
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
|
|
|
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
|
|
|
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
|
|
|
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser)
|
rs1376540567
|
|
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
|
rs562984785
|
|
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
|
|
|
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
|
rs1687306098
|
|
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His)
|
rs768568104
|
|
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
|
rs999613520
|
|
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
|
|
|
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser)
|
rs376226585
|
|
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val)
|
rs1369476710
|
|
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
|
rs367728637
|
|
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln)
|
rs778373105
|
|
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln)
|
rs2105906100
|
|
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
|
|
|
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
|
|
|
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
|
rs1324625933
|
|
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
|
|
|
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
|
|
|
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
|
|
|
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
|
rs1687222402
|
|
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
|
|
|
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
|
rs1319201699
|
|
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
|
|
|
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)
|
rs1553660992
|
|
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
|
|
|
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
|
|
|
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr)
|
rs2105900828
|
|
NM_001044385.3(TMEM237):c.42+6C>T
|
|
|
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr)
|
rs2105900282
|
|
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
|
|
|
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
|
|
|
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met)
|
rs2105900253
|
|
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser)
|
rs772074875
|
|
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
|
rs1957812548
|
|
NM_001044385.3(TMEM237):c.553+2dup
|
rs1957812399
|
|
NM_001044385.3(TMEM237):c.553+3dup
|
rs1957812369
|
|
NM_001044385.3(TMEM237):c.554-2_554-1insT
|
rs1085307098
|
|
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
|
|
|
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu)
|
rs1202199961
|
|
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
|
|
|
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
|
rs767769973
|
|
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe)
|
rs2105899190
|
|
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu)
|
rs769861092
|
|
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
|
|
|
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg)
|
rs1163877651
|
|
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser)
|
rs763431945
|
|
NM_001044385.3(TMEM237):c.74+12_74+14del
|
|
|
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys)
|
rs2105898977
|
|
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro)
|
rs992818026
|
|
NM_001044385.3(TMEM237):c.79+5G>C
|
|
|
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
|
|
|
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile)
|
rs1015591586
|
|
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr)
|
rs1343901400
|
|
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
|
|
|
NM_001044385.3(TMEM237):c.870-8T>G
|
rs2105898458
|
|
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
|
|
|
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
|
|
|
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly)
|
rs2105898418
|
|
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg)
|
rs1380123430
|
|
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro)
|
rs2105898403
|
|
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp)
|
rs1043186259
|
|
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val)
|
rs2105898068
|
|
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
|
rs1957768968
|
|
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
|
|
|
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg)
|
rs1057148787
|
|
NM_001077418.2(TMEM231):c.-53A>G
|
rs1176007249
|
|
NM_001077418.2(TMEM231):c.-55C>T
|
rs2151711350
|
|
NM_001077418.2(TMEM231):c.-59G>A
|
|
|
NM_001077418.2(TMEM231):c.-61T>G
|
|
|
NM_001077418.3(TMEM231):c.-16C>A
|
|
|
NM_001077418.3(TMEM231):c.-17G>T
|
rs768513169
|
|
NM_001077418.3(TMEM231):c.-22G>C
|
|
|
NM_001077418.3(TMEM231):c.-25C>T
|
|
|
NM_001077418.3(TMEM231):c.-38T>C
|
rs758946916
|
|
NM_001077418.3(TMEM231):c.-41A>C
|
rs765256905
|
|
NM_001077418.3(TMEM231):c.-8C>T
|
rs780752063
|
|
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
|
|
|
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
|
|
|
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
|
|
|
NM_001077418.3(TMEM231):c.139+14G>A
|
|
|
NM_001077418.3(TMEM231):c.139+28G>A
|
rs370005084
|
|
NM_001077418.3(TMEM231):c.139+44G>T
|
|
|
NM_001077418.3(TMEM231):c.140-10T>C
|
rs2151710900
|
|
NM_001077418.3(TMEM231):c.140-33C>G
|
rs901311435
|
|
NM_001077418.3(TMEM231):c.140-39G>A
|
|
|
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu)
|
rs2151710882
|
|
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
|
|
|
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
|
|
|
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
|
|
|
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
|
|
|
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
|
|
|
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)
|
rs772102451
|
|
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
|
|
|
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
|
|
|
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp)
|
rs1350319069
|
|
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val)
|
rs2151710764
|
|
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val)
|
rs2080804915
|
|
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn)
|
rs753709447
|
|
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
|
|
|
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
|
|
|
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
|
|
|
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
|
|
|
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
|
|
|
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile)
|
rs2151710524
|
|
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.310-18C>T
|
|
|
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly)
|
rs1415195367
|
|
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)
|
rs1348700844
|
|
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
|
rs1202833405
|
|
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
|
|
|
NM_001077418.3(TMEM231):c.438+3G>A
|
rs1183368030
|
|
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
|
|
|
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
|
|
|
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
|
|
|
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg)
|
rs2080678228
|
|
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
|
|
|
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
|
|
|
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
|
|
|
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)
|
rs1597041448
|
|
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
|
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
|
|
|
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
|
|
|
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe)
|
rs1280264089
|
|
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
|
|
|
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu)
|
rs2151702535
|
|
NM_001077418.3(TMEM231):c.583-3C>G
|
|
|
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
|
|
|
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
|
|
|
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
|
|
|
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
|
rs2080639506
|
|
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
|
|
|
NM_001077418.3(TMEM231):c.664+1G>A
|
|
|
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu)
|
rs397514753
|
|
NM_001077418.3(TMEM231):c.665-19_665-13del
|
|
|
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
|
|
|
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val)
|
rs1567441268
|
|
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
|
|
|
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
|
|
|
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
|
|
|
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr)
|
rs139236786
|
|
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
|
|
|
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
|
|
|
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu)
|
rs1277858041
|
|
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
|
|
|
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
|
|
|
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)
|
rs1295551040
|
|
NM_001077418.3(TMEM231):c.770+3A>G
|
rs2080625882
|
|
NM_001077418.3(TMEM231):c.770+6C>G
|
|
|
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
|
|
|
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
|
|
|
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
|
rs758048238
|
|
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
|
rs2151697774
|
|
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)
|
rs797044954
|
|
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
|
|
|
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
|
|
|
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
|
|
|
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
|
|
|
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
|
rs2080604225
|
|
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
|
|
|
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
|
|
|
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
|
|
|
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr)
|
rs2151697600
|
|
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
|
|
|
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
|
|
|
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
|
|
|
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.739G>A (p.Glu247Lys)
|
|
|
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)
|
rs547323858
|
|
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.47C>A (p.Ser16Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro)
|
rs2145030753
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val)
|
rs1060499675
|
|
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)
|
rs748418783
|
|
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.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr)
|
rs1568473283
|
|
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp)
|
rs1275025158
|
|
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser)
|
rs2144748359
|
|
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu)
|
rs2144646945
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
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.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
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_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
|
|
|
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)
|
rs1760808820
|
|
NM_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)
|
rs886054753
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
|
|
|
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)
|
rs977347524
|
|
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)
|
rs1408606648
|
|
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly)
|
rs747176517
|
|
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu)
|
rs774386187
|
|
NM_001128178.3(NPHP1):c.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)
|
rs886054756
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)
|
rs886054755
|
|
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)
|
rs947765689
|
|
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
|
rs201661196
|
|
NM_001128178.3(NPHP1):c.771+136C>A
|
rs142670785
|
|
NM_001128178.3(NPHP1):c.771+148G>T
|
rs753796140
|
|
NM_001128178.3(NPHP1):c.771+178C>T
|
rs767903893
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)
|
rs886054754
|
|
NM_001129729.3(PLEKHG4):c.-16C>T
|
rs886041026
|
|
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.2718C>G (p.Phe906Leu)
|
rs1057518774
|
|
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.4636C>G (p.Pro1546Ala)
|
rs1555687655
|
|
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_001134831.2(AHI1):c.*110G>A
|
rs370861733
|
|
NM_001134831.2(AHI1):c.*1317A>G
|
rs886061102
|
|
NM_001134831.2(AHI1):c.*1568A>T
|
rs969919726
|
|
NM_001134831.2(AHI1):c.*1A>C
|
|
|
NM_001134831.2(AHI1):c.*216G>A
|
rs1781565852
|
|
NM_001134831.2(AHI1):c.*246T>C
|
rs1781561968
|
|
NM_001134831.2(AHI1):c.*484G>A
|
rs1045439496
|
|
NM_001134831.2(AHI1):c.*981C>T
|
rs376956056
|
|
NM_001134831.2(AHI1):c.-332C>G
|
rs944668049
|
|
NM_001134831.2(AHI1):c.-53A>G
|
rs1461027288
|
|
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.108del (p.Lys36fs)
|
rs1562294047
|
|
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe)
|
rs761203456
|
|
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)
|
rs545841352
|
|
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe)
|
rs372919026
|
|
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)
|
rs886061112
|
|
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
|
|
|
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)
|
rs1787553528
|
|
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly)
|
rs1787553194
|
|
NM_001134831.2(AHI1):c.1627-6A>G
|
rs886061111
|
|
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys)
|
rs971565169
|
|
NM_001134831.2(AHI1):c.1780-3T>C
|
rs1786509189
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
|
|
|
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu)
|
rs371531507
|
|
NM_001134831.2(AHI1):c.1912+15T>G
|
rs1786478454
|
|
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
|
rs1785751637
|
|
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val)
|
rs371198770
|
|
NM_001134831.2(AHI1):c.2036+6T>G
|
rs2128037867
|
|
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala)
|
rs752392677
|
|
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)
|
rs372012542
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile)
|
rs1049221524
|
|
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg)
|
rs886061110
|
|
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys)
|
rs958113326
|
|
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=)
|
rs1583193331
|
|
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)
|
rs1784406093
|
|
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)
|
rs529407899
|
|
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser)
|
rs2128009440
|
|
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)
|
rs1583187059
|
|
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala)
|
rs376705634
|
|
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del)
|
rs1583179812
|
|
NM_001134831.2(AHI1):c.2763T>C (p.His921=)
|
rs886061109
|
|
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys)
|
rs755780260
|
|
NM_001134831.2(AHI1):c.3109+14T>A
|
rs1778988078
|
|
NM_001134831.2(AHI1):c.3109+6788A>C
|
|
|
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
|
rs750115460
|
|
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs)
|
rs387906269
|
|
NM_001134831.2(AHI1):c.3486-4A>G
|
rs534053819
|
|
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)
|
rs192524061
|
|
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
|
rs766052712
|
|
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)
|
rs531024131
|
|
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)
|
rs747322175
|
|
NM_001134831.2(AHI1):c.971A>G (p.His324Arg)
|
rs1789192683
|
|
NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)
|
|
|
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
|
|
|
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
|
|
|
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)
|
|
|
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)
|
rs150798889
|
|
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala)
|
rs1915232687
|
|
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
|
|
|
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu)
|
rs1915315281
|
|
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)
|
rs748793270
|
|
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
|
|
|
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)
|
rs199995527
|
|
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)
|
rs374149596
|
|
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
|
|
|
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro)
|
rs150784268
|
|
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
|
|
|
NM_001167740.2(SMYD3):c.814-5812_814-3813del
|
|
|
NM_001173990.2(TMEM216):c.-128A>C
|
rs886048411
|
|
NM_001173990.2(TMEM216):c.-285A>G
|
rs139151563
|
|
NM_001173990.3(TMEM216):c.*190A>G
|
rs1858851501
|
|
NM_001173990.3(TMEM216):c.*247C>T
|
rs886048413
|
|
NM_001173990.3(TMEM216):c.*393C>T
|
rs1858858010
|
|
NM_001173990.3(TMEM216):c.*548T>A
|
rs1858863107
|
|
NM_001173990.3(TMEM216):c.-24C>T
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)
|
rs1554972400
|
|
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)
|
rs900061092
|
|
NM_001173990.3(TMEM216):c.137-7T>C
|
rs1554972545
|
|
NM_001173990.3(TMEM216):c.229+10G>A
|
rs1590642512
|
|
NM_001173990.3(TMEM216):c.230-10T>C
|
rs1858829914
|
|
NM_001173990.3(TMEM216):c.230-9dup
|
rs1554972934
|
|
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)
|
rs1238443381
|
|
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)
|
rs1554972406
|
|
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)
|
rs1554972964
|
|
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG
|
rs1554973024
|
|
NM_001173990.3(TMEM216):c.432-10delinsAA
|
rs1554973021
|
|
NM_001173990.3(TMEM216):c.432-10delinsAC
|
rs1554973021
|
|
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)
|
rs1554972409
|
|
NM_001195248.2(APTX):c.742T>C (p.Leu248=)
|
rs141195622
|
|
NM_001244189.2(KIAA0586):c.9+4A>C
|
rs1029046238
|
|
NM_001244189.2(KIAA0586):c.9+5G>C
|
|
|
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
|
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
|
|
|
NM_001271696.3(ABCB7):c.944+3A>G
|
rs2081385144
|
|
NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile)
|
rs1212150882
|
|
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)
|
rs1022097029
|
|
NM_001278064.2(GRM1):c.851C>T (p.Ala284Val)
|
rs1448466753
|
|
NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val)
|
rs2148497936
|
|
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu)
|
rs2122623348
|
|
NM_001329943.3(KIAA0586):c.*3G>A
|
rs748083468
|
|
NM_001329943.3(KIAA0586):c.-20C>T
|
|
|
NM_001329943.3(KIAA0586):c.-28G>A
|
|
|
NM_001329943.3(KIAA0586):c.-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.-33C>G
|
rs1246692312
|
|
NM_001329943.3(KIAA0586):c.-4C>G
|
|
|
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile)
|
rs186659284
|
|
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
|
|
|
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
|
|
|
NM_001329943.3(KIAA0586):c.1129+6A>C
|
|
|
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His)
|
rs963677243
|
|
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys)
|
rs2039563292
|
|
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp)
|
rs190089844
|
|
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn)
|
rs1349839476
|
|
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu)
|
rs2140763302
|
|
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
|
|
|
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys)
|
rs548318176
|
|
NM_001329943.3(KIAA0586):c.1254-19A>T
|
rs2140825179
|
|
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
|
|
|
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln)
|
rs2140843404
|
|
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys)
|
rs1323358756
|
|
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser)
|
rs1245858530
|
|
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
|
|
|
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe)
|
rs761150154
|
|
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
|
|
|
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe)
|
rs369211190
|
|
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg)
|
rs2040004897
|
|
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
|
|
|
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
|
|
|
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser)
|
rs2140854100
|
|
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
|
|
|
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
|
|
|
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser)
|
rs2140874422
|
|
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg)
|
rs780461594
|
|
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
|
|
|
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu)
|
rs940229482
|
|
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
|
|
|
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly)
|
rs1210187670
|
|
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe)
|
rs2140886222
|
|
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro)
|
rs1473572852
|
|
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg)
|
rs769913250
|
|
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
|
|
|
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser)
|
rs2140375856
|
|
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
|
|
|
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
|
|
|
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu)
|
rs751924115
|
|
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
|
|
|
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala)
|
rs2140939104
|
|
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn)
|
rs1868384082
|
|
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
|
|
|
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
|
|
|
NM_001329943.3(KIAA0586):c.213_270+11dup
|
|
|
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys)
|
rs2140939862
|
|
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr)
|
rs757373300
|
|
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr)
|
rs750671663
|
|
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser)
|
rs2140940326
|
|
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala)
|
rs1489902309
|
|
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
|
|
|
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
|
|
|
NM_001329943.3(KIAA0586):c.2255-3T>C
|
rs2140956887
|
|
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
|
|
|
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn)
|
rs2140957750
|
|
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
|
|
|
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
|
|
|
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly)
|
rs1302610013
|
|
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val)
|
rs1302610013
|
|
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
|
|
|
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val)
|
rs2140391234
|
|
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
|
|
|
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
|
|
|
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr)
|
rs1320727649
|
|
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
|
|
|
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
|
|
|
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del)
|
rs750244824
|
|
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His)
|
rs763982126
|
|
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
|
|
|
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
|
|
|
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val)
|
rs200219991
|
|
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr)
|
rs2140987094
|
|
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe)
|
rs749680733
|
|
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2553+6T>C
|
|
|
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
|
rs1024217852
|
|
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2554-14A>G
|
|
|
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
|
|
|
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg)
|
rs74055693
|
|
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val)
|
rs2041278053
|
|
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
|
|
|
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val)
|
rs868621645
|
|
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2634+10C>G
|
|
|
NM_001329943.3(KIAA0586):c.2634+5C>G
|
|
|
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn)
|
rs760087214
|
|
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr)
|
rs780403471
|
|
NM_001329943.3(KIAA0586):c.270+3A>G
|
rs2140391500
|
|
NM_001329943.3(KIAA0586):c.270+7A>C
|
|
|
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala)
|
rs753434086
|
|
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
|
|
|
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
|
|
|
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg)
|
rs2141025129
|
|
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del)
|
rs2141025393
|
|
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
|
|
|
NM_001329943.3(KIAA0586):c.2826-8C>A
|
rs2141053167
|
|
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
|
|
|
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile)
|
rs2141053576
|
|
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
|
|
|
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile)
|
rs1161690227
|
|
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly)
|
rs2141054763
|
|
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
|
|
|
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
|
|
|
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys)
|
rs2140372595
|
|
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
|
|
|
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp)
|
rs182274649
|
|
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val)
|
rs767378597
|
|
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
|
|
|
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp)
|
rs2042116751
|
|
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys)
|
rs367811307
|
|
NM_001329943.3(KIAA0586):c.3144+3A>G
|
rs956345090
|
|
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
|
|
|
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys)
|
rs1472123420
|
|
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro)
|
rs1453619075
|
|
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
|
|
|
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
|
|
|
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
|
|
|
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys)
|
rs2140404760
|
|
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu)
|
rs2141182370
|
|
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
|
|
|
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
|
|
|
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn)
|
rs2042507801
|
|
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly)
|
rs187091758
|
|
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
|
|
|
NM_001329943.3(KIAA0586):c.3304+5A>C
|
|
|
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3305-3T>C
|
|
|
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn)
|
rs2141192396
|
|
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
|
|
|
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
|
|
|
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile)
|
rs2141193303
|
|
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del)
|
rs770153870
|
|
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr)
|
rs2141193523
|
|
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe)
|
rs1409454378
|
|
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
|
|
|
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys)
|
rs2141194171
|
|
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
|
|
|
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu)
|
rs2042587558
|
|
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr)
|
rs2141194729
|
|
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val)
|
rs2141194889
|
|
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys)
|
rs778492541
|
|
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
|
|
|
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del)
|
rs778377845
|
|
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
|
|
|
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg)
|
rs2141195740
|
|
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
|
|
|
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu)
|
rs750251144
|
|
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln)
|
rs754567597
|
|
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn)
|
rs780785984
|
|
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His)
|
rs368352741
|
|
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys)
|
rs746136288
|
|
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala)
|
rs1292752792
|
|
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
|
|
|
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser)
|
rs183240083
|
|
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
|
|
|
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys)
|
rs2140422825
|
|
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
|
|
|
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val)
|
rs2037453984
|
|
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg)
|
rs1595348112
|
|
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
|
|
|
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr)
|
rs756960694
|
|
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val)
|
rs1425457941
|
|
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del)
|
rs1399193101
|
|
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
|
|
|
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr)
|
rs748648408
|
|
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
|
|
|
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3858+4A>G
|
rs2042748796
|
|
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
|
|
|
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu)
|
rs2141237535
|
|
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=)
|
rs779179754
|
|
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
|
|
|
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val)
|
rs1369311999
|
|
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln)
|
rs1270703288
|
|
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
|
|
|
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
|
|
|
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
|
|
|
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg)
|
rs1260148388
|
|
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His)
|
rs2043350107
|
|
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile)
|
rs2043350903
|
|
NM_001329943.3(KIAA0586):c.410+3A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1364A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1381C>T
|
rs749413114
|
|
NM_001329943.3(KIAA0586):c.411-1404G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1405T>C
|
|
|
NM_001329943.3(KIAA0586):c.411-1409C>T
|
rs2140521828
|
|
NM_001329943.3(KIAA0586):c.411-1427A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1431C>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1448G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1494C>A
|
|
|
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
|
|
|
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr)
|
rs2141310739
|
|
NM_001329943.3(KIAA0586):c.4168+5A>G
|
|
|
NM_001329943.3(KIAA0586):c.4168+6C>T
|
|
|
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
|
|
|
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val)
|
rs1164983892
|
|
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly)
|
rs2141430559
|
|
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp)
|
rs746899731
|
|
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
|
|
|
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile)
|
rs1356513118
|
|
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly)
|
rs548063080
|
|
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser)
|
rs2141431422
|
|
NM_001329943.3(KIAA0586):c.4323+3A>G
|
|
|
NM_001329943.3(KIAA0586):c.4323+4C>T
|
rs2044176022
|
|
NM_001329943.3(KIAA0586):c.4323+5C>G
|
rs2141431529
|
|
NM_001329943.3(KIAA0586):c.4324-4T>G
|
rs1429230924
|
|
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val)
|
rs2141479700
|
|
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile)
|
rs2141479904
|
|
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln)
|
rs1051498929
|
|
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
|
|
|
NM_001329943.3(KIAA0586):c.4429+4A>G
|
rs1017273332
|
|
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
|
|
|
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
|
|
|
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
|
|
|
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
|
|
|
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His)
|
rs2140098041
|
|
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu)
|
rs370303493
|
|
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4495+3762T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>G
|
rs968172462
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>T
|
rs968172462
|
|
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
|
|
|
NM_001329943.3(KIAA0586):c.4495+3797T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+4A>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+6A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3814G>A
|
rs2140128786
|
|
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
|
|
|
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
|
|
|
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=)
|
rs2140156234
|
|
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
|
|
|
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
|
|
|
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
|
|
|
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr)
|
rs2140156359
|
|
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
|
|
|
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
|
|
|
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu)
|
rs542432352
|
|
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His)
|
rs2140156856
|
|
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=)
|
rs2140157005
|
|
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
|
|
|
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=)
|
rs1301341396
|
|
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
|
|
|
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
|
|
|
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
|
|
|
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu)
|
rs1202184988
|
|
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
|
|
|
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
|
|
|
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
|
|
|
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu)
|
rs748340175
|
|
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
|
|
|
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
|
|
|
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly)
|
rs2038635110
|
|
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
|
|
|
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
|
|
|
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
|
|
|
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser)
|
rs2140373651
|
|
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
|
|
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu)
|
rs1373940232
|
|
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
|
|
|
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
|
|
|
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
|
|
|
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln)
|
rs774888789
|
|
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met)
|
rs2140567428
|
|
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
|
|
|
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del)
|
rs1290912165
|
|
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His)
|
rs2140568101
|
|
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
|
|
|
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr)
|
rs1417240682
|
|
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys)
|
rs2039078597
|
|
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
|
|
|
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu)
|
rs769369839
|
|
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
|
|
|
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr)
|
rs2039080763
|
|
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
|
|
|
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
|
|
|
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu)
|
rs2140662489
|
|
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
|
|
|
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
|
|
|
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
|
|
|
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly)
|
rs2140663692
|
|
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe)
|
rs2140664162
|
|
NM_001329943.3(KIAA0586):c.961+6_961+7del
|
rs1308763926
|
|
NM_001329943.3(KIAA0586):c.962-3A>C
|
|
|
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile)
|
rs1317366636
|
|
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val)
|
rs780810159
|
|
NM_001347702.2(SYNE1):c.1444G>A (p.Val482Ile)
|
rs1389837024
|
|
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
|
|
|
NM_001347702.2(SYNE1):c.1492G>T (p.Ala498Ser)
|
|
|
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg)
|
rs746655221
|
|
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.494T>C (p.Met165Thr)
|
rs762930876
|
|
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
|
|
|
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
|
|
|
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
|
|
|
NM_001375883.1(GPR161):c.1502del (p.Gly501fs)
|
rs766670512
|
|
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
|
|
|
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
|
|
|
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
|
|
|
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.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.12887T>C (p.Met4296Thr)
|
rs886050376
|
|
NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala)
|
rs1555412625
|
|
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_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.*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.*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.1028G>A (p.Arg343Lys)
|
rs779003637
|
|
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.1623C>T (p.Leu541=)
|
rs886058612
|
|
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly)
|
rs2093921786
|
|
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.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.366+15C>T
|
rs145989158
|
|
NM_001378452.1(ITPR1):c.3705C>G (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.4127A>T (p.Asp1376Val)
|
rs955458642
|
|
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=)
|
rs2094513887
|
|
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe)
|
rs762136714
|
|
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser)
|
rs886058615
|
|
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.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.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.7562-11C>T
|
rs368532017
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
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.7965G>A (p.Leu2655=)
|
rs775463557
|
|
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_001378615.1(CC2D2A):c.-178T>C
|
rs886059135
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)
|
rs886059136
|
|
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile)
|
rs886059137
|
|
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)
|
rs747187783
|
|
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=)
|
rs886059138
|
|
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)
|
rs550913315
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp)
|
rs749997192
|
|
NM_001378615.1(CC2D2A):c.2486+9T>C
|
rs768382177
|
|
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val)
|
rs376403848
|
|
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly)
|
rs574421639
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)
|
rs1719718448
|
|
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)
|
rs753770061
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3398+13T>C
|
rs886059183
|
|
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn)
|
rs371998498
|
|
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu)
|
rs1560192615
|
|
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu)
|
rs778519147
|
|
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)
|
rs1720848250
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn)
|
rs1407804611
|
|
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala)
|
rs886059185
|
|
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu)
|
rs1485264498
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=)
|
rs1721486758
|
|
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu)
|
rs886059186
|
|
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
|
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile)
|
rs965641511
|
|
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu)
|
|
|
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp)
|
rs867628133
|
|
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro)
|
rs1675021542
|
|
NM_001378969.1(KCND3):c.1269+6C>T
|
rs1060502174
|
|
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro)
|
|
|
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu)
|
rs771703569
|
|
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+4G>C
|
|
|
NM_001378969.1(KCND3):c.1371+5G>T
|
rs1178012198
|
|
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.1418A>T (p.Glu473Val)
|
rs2101469294
|
|
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn)
|
|
|
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)
|
rs976664434
|
|
NM_001378969.1(KCND3):c.1518+4T>C
|
rs1553235925
|
|
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala)
|
rs1664166577
|
|
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr)
|
|
|
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
|
|
|
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg)
|
rs1338355211
|
|
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.1672C>T (p.Pro558Ser)
|
rs2101456436
|
|
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
|
|
|
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr)
|
rs1553235743
|
|
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)
|
|
|
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys)
|
rs1420542041
|
|
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.1772C>G (p.Ser591Cys)
|
rs903701604
|
|
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp)
|
rs1483036958
|
|
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.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.1919C>T (p.Thr640Met)
|
|
|
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.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.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.448G>A (p.Asp150Asn)
|
rs1488410733
|
|
NM_001378969.1(KCND3):c.478A>G (p.Met160Val)
|
rs901416743
|
|
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu)
|
|
|
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)
|
|
|
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala)
|
rs2101997398
|
|
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser)
|
|
|
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu)
|
|
|
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val)
|
|
|
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.878G>A (p.Arg293His)
|
rs1674965278
|
|
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_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=)
|
rs764952763
|
|
NM_001382391.1(CSPP1):c.-104A>G
|
|
|
NM_001382391.1(CSPP1):c.-104A>T
|
rs1805077545
|
|
NM_001382391.1(CSPP1):c.-108C>T
|
rs2129538420
|
|
NM_001382391.1(CSPP1):c.-125C>A
|
|
|
NM_001382391.1(CSPP1):c.-128C>T
|
rs775895663
|
|
NM_001382391.1(CSPP1):c.-138C>A
|
rs373705126
|
|
NM_001382391.1(CSPP1):c.-138C>T
|
|
|
NM_001382391.1(CSPP1):c.-142C>A
|
rs1023702149
|
|
NM_001382391.1(CSPP1):c.-143T>A
|
rs1164437313
|
|
NM_001382391.1(CSPP1):c.-147C>G
|
|
|
NM_001382391.1(CSPP1):c.-149T>A
|
rs768356971
|
|
NM_001382391.1(CSPP1):c.-149T>G
|
|
|
NM_001382391.1(CSPP1):c.-150A>T
|
|
|
NM_001382391.1(CSPP1):c.-47A>G
|
|
|
NM_001382391.1(CSPP1):c.-57C>G
|
|
|
NM_001382391.1(CSPP1):c.-66G>A
|
rs2129538438
|
|
NM_001382391.1(CSPP1):c.-68G>A
|
rs2129538437
|
|
NM_001382391.1(CSPP1):c.-68G>C
|
|
|
NM_001382391.1(CSPP1):c.-74G>A
|
|
|
NM_001382391.1(CSPP1):c.-80C>G
|
rs745897839
|
|
NM_001382391.1(CSPP1):c.-90C>T
|
|
|
NM_001382391.1(CSPP1):c.-96C>G
|
rs751458139
|
|
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
|
|
|
NM_001382391.1(CSPP1):c.1023-3T>C
|
|
|
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
|
|
|
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
|
|
|
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr)
|
rs2129547771
|
|
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
|
|
|
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys)
|
rs1815423493
|
|
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
|
|
|
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
|
|
|
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe)
|
rs1807945498
|
|
NM_001382391.1(CSPP1):c.1093+3A>G
|
rs1815432822
|
|
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly)
|
rs2129549763
|
|
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=)
|
rs768714635
|
|
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
|
|
|
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
|
|
|
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys)
|
rs748162424
|
|
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly)
|
rs1816951976
|
|
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
|
|
|
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro)
|
rs760205035
|
|
NM_001382391.1(CSPP1):c.1188-3T>C
|
|
|
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
|
|
|
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val)
|
rs2129550393
|
|
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
|
|
|
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser)
|
rs370123119
|
|
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
|
|
|
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser)
|
rs201880658
|
|
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
|
|
|
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
|
|
|
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
|
|
|
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala)
|
rs2129550845
|
|
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val)
|
rs2129550849
|
|
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser)
|
rs2129550850
|
|
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
|
|
|
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro)
|
rs747312980
|
|
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu)
|
rs376880257
|
|
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
|
|
|
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg)
|
rs2129550870
|
|
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
|
|
|
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu)
|
rs767353646
|
|
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
|
|
|
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
|
|
|
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp)
|
rs2129550877
|
|
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
|
|
|
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
|
|
|
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
|
|
|
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
|
|
|
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
|
|
|
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe)
|
rs1818329945
|
|
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys)
|
rs2129551362
|
|
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile)
|
rs2129551363
|
|
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
|
|
|
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
|
|
|
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys)
|
rs766545455
|
|
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu)
|
rs772097768
|
|
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro)
|
rs369723292
|
|
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg)
|
rs369723292
|
|
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr)
|
rs1028530380
|
|
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn)
|
rs2129551469
|
|
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
|
|
|
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
|
|
|
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu)
|
rs2129551479
|
|
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
|
|
|
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys)
|
rs375847469
|
|
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg)
|
rs2129554180
|
|
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
|
|
|
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met)
|
rs2129554181
|
|
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del)
|
rs1821332797
|
|
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
|
|
|
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
|
|
|
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
|
|
|
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
|
|
|
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
|
|
|
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
|
|
|
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln)
|
rs771386855
|
|
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
|
|
|
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
|
|
|
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys)
|
rs2129555264
|
|
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly)
|
rs767674652
|
|
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr)
|
rs752873157
|
|
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro)
|
rs2129555267
|
|
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu)
|
rs2129541315
|
|
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp)
|
rs1807963359
|
|
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn)
|
rs1822601037
|
|
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp)
|
rs923561338
|
|
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
|
|
|
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
|
|
|
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
|
|
|
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser)
|
rs1822608915
|
|
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
|
|
|
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val)
|
rs2129555283
|
|
NM_001382391.1(CSPP1):c.1975+5G>A
|
|
|
NM_001382391.1(CSPP1):c.1975+6T>C
|
|
|
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
|
|
|
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg)
|
rs766230896
|
|
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr)
|
rs1226391179
|
|
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu)
|
rs761009916
|
|
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu)
|
rs764240953
|
|
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
|
|
|
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro)
|
rs2129558004
|
|
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
|
|
|
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser)
|
rs2129558011
|
|
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu)
|
rs1825359470
|
|
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
|
|
|
NM_001382391.1(CSPP1):c.2129-16A>G
|
rs1826203961
|
|
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val)
|
rs780885390
|
|
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
|
|
|
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly)
|
rs778822396
|
|
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu)
|
rs201974031
|
|
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser)
|
rs2129559050
|
|
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
|
|
|
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
|
|
|
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe)
|
rs2129559060
|
|
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
|
|
|
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys)
|
rs2129559063
|
|
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
|
|
|
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys)
|
rs1826224959
|
|
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro)
|
rs769971911
|
|
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu)
|
rs2129559079
|
|
NM_001382391.1(CSPP1):c.2241+9C>G
|
rs1826230466
|
|
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
|
|
|
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
|
|
|
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
|
|
|
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del)
|
rs2129560139
|
|
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
|
|
|
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
|
|
|
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
|
|
|
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
|
|
|
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
|
|
|
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly)
|
rs1827120184
|
|
NM_001382391.1(CSPP1):c.2391+3A>T
|
rs1338097590
|
|
NM_001382391.1(CSPP1):c.2391+4C>T
|
|
|
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val)
|
rs2129560252
|
|
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del)
|
rs773946059
|
|
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
|
|
|
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
|
|
|
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr)
|
rs1283124706
|
|
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del)
|
rs750079297
|
|
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
|
|
|
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
|
|
|
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
|
|
|
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
|
|
|
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu)
|
rs752478502
|
|
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys)
|
rs909732603
|
|
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
|
|
|
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser)
|
rs1484918109
|
|
NM_001382391.1(CSPP1):c.2539-18A>G
|
|
|
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
|
|
|
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del)
|
rs1828417560
|
|
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu)
|
rs1828419474
|
|
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
|
|
|
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile)
|
rs1828425319
|
|
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile)
|
rs2129543528
|
|
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
|
|
|
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe)
|
rs2129561809
|
|
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp)
|
rs1828434498
|
|
NM_001382391.1(CSPP1):c.2643+4T>C
|
|
|
NM_001382391.1(CSPP1):c.2643+4T>G
|
rs748730202
|
|
NM_001382391.1(CSPP1):c.2644-11T>G
|
|
|
NM_001382391.1(CSPP1):c.2644-14T>G
|
rs2129562428
|
|
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
|
|
|
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg)
|
rs779762140
|
|
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
|
|
|
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly)
|
rs2129562479
|
|
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
|
|
|
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His)
|
rs1828818248
|
|
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys)
|
rs757750162
|
|
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met)
|
rs374300498
|
|
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
|
|
|
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly)
|
rs1586651470
|
|
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
|
|
|
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu)
|
rs779579881
|
|
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp)
|
rs367889164
|
|
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
|
|
|
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln)
|
rs764280843
|
|
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys)
|
rs776600422
|
|
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
|
|
|
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
|
|
|
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn)
|
rs1182648944
|
|
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
|
|
|
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His)
|
rs1402959828
|
|
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
|
|
|
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
|
|
|
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
|
|
|
NM_001382391.1(CSPP1):c.2828+2C>T
|
rs1828946939
|
|
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
|
|
|
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
|
|
|
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala)
|
rs770066826
|
|
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser)
|
rs770066826
|
|
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu)
|
rs781283590
|
|
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg)
|
rs1480057271
|
|
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly)
|
rs1830675527
|
|
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=)
|
rs2129567311
|
|
NM_001382391.1(CSPP1):c.2968+5G>A
|
rs1057524684
|
|
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn)
|
rs1830678644
|
|
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu)
|
rs993509179
|
|
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile)
|
rs750443075
|
|
NM_001382391.1(CSPP1):c.303+5T>C
|
rs1332818013
|
|
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys)
|
rs374717800
|
|
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu)
|
rs374717800
|
|
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val)
|
rs1831355993
|
|
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
|
|
|
NM_001382391.1(CSPP1):c.3109+4dup
|
rs2129568589
|
|
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
|
|
|
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
|
|
|
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
|
|
|
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_001382391.1(CSPP1):c.3220+7A>G
|
|
|
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
|
|
|
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
|
|
|
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
|
|
|
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
|
|
|
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
|
|
|
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser)
|
rs774501418
|
|
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
|
|
|
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe)
|
rs754193806
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)
|
rs775362535
|
|
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
|
|
|
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del)
|
rs749558548
|
|
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
|
|
|
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
|
|
|
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
|
|
|
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp)
|
rs1837019445
|
|
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr)
|
rs2129575962
|
|
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
|
|
|
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
|
|
|
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser)
|
rs569956227
|
|
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
|
|
|
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg)
|
rs2129575980
|
|
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs)
|
rs760082779
|
|
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
|
|
|
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
|
|
|
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs)
|
rs2129576630
|
|
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile)
|
rs1414800888
|
|
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His)
|
rs1837730212
|
|
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs)
|
rs776145236
|
|
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala)
|
rs1837735009
|
|
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
|
|
|
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs)
|
rs1563816165
|
|
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
|
|
|
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
|
|
|
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
|
|
|
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His)
|
rs1837760146
|
|
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg)
|
rs1026132903
|
|
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
|
|
|
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
|
|
|
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
|
|
|
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
|
|
|
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
|
|
|
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
|
|
|
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
|
|
|
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
|
|
|
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
|
|
|
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
|
|
|
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly)
|
rs1554569071
|
|
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val)
|
rs150924296
|
|
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
|
|
|
NM_001382391.1(CSPP1):c.483+6T>C
|
|
|
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala)
|
rs2129545447
|
|
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=)
|
rs1308150996
|
|
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys)
|
rs1477078769
|
|
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp)
|
rs2129545466
|
|
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
|
|
|
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln)
|
rs1807446261
|
|
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln)
|
rs193231165
|
|
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
|
|
|
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
|
|
|
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
|
|
|
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
|
|
|
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
|
|
|
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
|
|
|
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His)
|
rs777234205
|
|
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg)
|
rs2129545496
|
|
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
|
|
|
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro)
|
rs771943937
|
|
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp)
|
rs763959523
|
|
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg)
|
rs2129545507
|
|
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn)
|
rs750608589
|
|
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr)
|
rs750608589
|
|
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
|
|
|
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly)
|
rs1353287068
|
|
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp)
|
rs1812585066
|
|
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val)
|
rs1812585556
|
|
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
|
|
|
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
|
|
|
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu)
|
rs1812594373
|
|
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu)
|
rs1812598635
|
|
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
|
|
|
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr)
|
rs761539830
|
|
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys)
|
rs1339310127
|
|
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr)
|
rs1807452107
|
|
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala)
|
rs1585833752
|
|
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys)
|
rs2129545557
|
|
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
|
|
|
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg)
|
rs1313170509
|
|
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
|
|
|
NM_001382391.1(CSPP1):c.99+5A>G
|
|
|
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val)
|
rs1479905045
|
|
NM_001386140.1(MTTP):c.*1003T>C
|
rs796899519
|
|
NM_001386140.1(MTTP):c.*1044G>T
|
rs886058965
|
|
NM_001386140.1(MTTP):c.*219G>A
|
rs1358012798
|
|
NM_001386140.1(MTTP):c.*41A>G
|
rs886058959
|
|
NM_001386140.1(MTTP):c.*434G>A
|
rs1358561776
|
|
NM_001386140.1(MTTP):c.*454dup
|
rs545365701
|
|
NM_001386140.1(MTTP):c.*474T>C
|
rs960894922
|
|
NM_001386140.1(MTTP):c.*517A>T
|
rs886058964
|
|
NM_001386140.1(MTTP):c.*55G>C
|
rs192882987
|
|
NM_001386140.1(MTTP):c.*82G>A
|
rs886058960
|
|
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val)
|
rs137956833
|
|
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
|
|
|
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val)
|
rs757598679
|
|
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile)
|
rs2110230166
|
|
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr)
|
rs1368249156
|
|
NM_001386140.1(MTTP):c.1769+12T>C
|
rs767162951
|
|
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln)
|
rs746293101
|
|
NM_001386140.1(MTTP):c.1868-6C>T
|
rs772185759
|
|
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
|
|
|
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)
|
rs767606327
|
|
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=)
|
rs1578257313
|
|
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala)
|
rs780797954
|
|
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly)
|
rs780797954
|
|
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys)
|
rs1726222895
|
|
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=)
|
rs1272679414
|
|
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp)
|
rs2110239476
|
|
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val)
|
rs1726272076
|
|
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
|
|
|
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser)
|
rs867316992
|
|
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)
|
rs1724921174
|
|
NM_001386140.1(MTTP):c.543T>G (p.His181Gln)
|
rs150319930
|
|
NM_001386140.1(MTTP):c.759G>A (p.Lys253=)
|
rs1725509234
|
|
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)
|
rs1037319735
|
|
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)
|
rs566965111
|
|
NM_001386140.1(MTTP):c.927G>A (p.Arg309=)
|
rs1001965936
|
|
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.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.9835C>G (p.Leu3279Val)
|
rs1363769217
|
|
NM_001447.3(FAT2):c.9896C>T (p.Ser3299Phe)
|
rs2127588750
|
|
NM_001510.4(GRID2):c.-62C>T
|
|
|
NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)
|
|
|
NM_001510.4(GRID2):c.1100G>A (p.Arg367His)
|
|
|
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr)
|
rs1728640535
|
|
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly)
|
rs752073311
|
|
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
|
|
|
NM_001510.4:c.1246-278_2193+35240del
|
|
|
NM_001510.4:c.790-271_1245+268del
|
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
|
|
|
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.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>T
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1531G>A
|
rs9817206
|
|
NM_002508.3(NID1):c.2129-2427_2405-658del
|
|
|
NM_002739.5(PRKCG):c.*39C>T
|
rs776490487
|
|
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr)
|
rs769292201
|
|
NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala)
|
|
|
NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val)
|
|
|
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.1962G>C (p.Leu654=)
|
rs868833808
|
|
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)
|
rs2068657131
|
|
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg)
|
rs866406014
|
|
NM_002739.5(PRKCG):c.686+300C>G
|
rs2068681112
|
|
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)
|
rs1471641294
|
|
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser)
|
rs1739849007
|
|
NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)
|
|
|
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=)
|
rs2083146343
|
|
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
|
|
|
NM_003383.5(VLDLR):c.*214C>T
|
rs189180202
|
|
NM_003383.5(VLDLR):c.*351C>G
|
rs1818497609
|
|
NM_003383.5(VLDLR):c.*45C>T
|
rs920949909
|
|
NM_003383.5(VLDLR):c.*517G>C
|
rs886063813
|
|
NM_003383.5(VLDLR):c.*98G>A
|
rs543466401
|
|
NM_003383.5(VLDLR):c.-302T>C
|
rs1007541973
|
|
NM_003383.5(VLDLR):c.-303C>G
|
rs1816795166
|
|
NM_003383.5(VLDLR):c.-335C>T
|
rs557105742
|
|
NM_003383.5(VLDLR):c.-99C>G
|
rs1816811812
|
|
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
|
|
|
NM_003383.5(VLDLR):c.1374del (p.Glu460fs)
|
rs1586653366
|
|
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu)
|
rs144724569
|
|
NM_003383.5(VLDLR):c.1703+10C>G
|
rs372047946
|
|
NM_003383.5(VLDLR):c.1971C>T (p.Val657=)
|
rs1039272492
|
|
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe)
|
rs1818184738
|
|
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=)
|
rs886063811
|
|
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg)
|
rs1454735635
|
|
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu)
|
rs1818271045
|
|
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=)
|
rs1300402424
|
|
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
|
|
|
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
|
|
|
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
|
|
|
NM_003383.5(VLDLR):c.449-112G>A
|
|
|
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly)
|
rs777739092
|
|
NM_003383.5(VLDLR):c.570G>C (p.Pro190=)
|
rs116556362
|
|
NM_003383.5(VLDLR):c.711C>G (p.Thr237=)
|
rs781637501
|
|
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
|
|
|
NM_003383.5(VLDLR):c.828A>C (p.Arg276=)
|
rs777520243
|
|
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)
|
rs886063808
|
|
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)
|
rs886063809
|
|
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro)
|
rs1817930978
|
|
NM_003640.5(ELP1):c.116A>G (p.His39Arg)
|
rs2132052820
|
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs571143526
|
|
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
|
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
|
|
|
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
|
|
|
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
|
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309
|
|
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)
|
rs1828721515
|
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
|
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
|
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
|
|
|
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
|
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
NM_004115.4(FGF14):c.*101_*104del
|
rs886049937
|
|
NM_004115.4(FGF14):c.*1199A>G
|
rs372768269
|
|
NM_004115.4(FGF14):c.*1251G>A
|
rs2034988925
|
|
NM_004115.4(FGF14):c.*1609_*1612del
|
rs747506157
|
|
NM_004115.4(FGF14):c.*1761G>C
|
rs886049931
|
|
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.*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.193+3C>T
|
|
|
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)
|
rs2035466147
|
|
NM_004115.4(FGF14):c.652G>T (p.Val218Phe)
|
rs1432381387
|
|
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg)
|
rs886049938
|
|
NM_004366.6(CLCN2):c.740G>T (p.Gly247Val)
|
rs1553856477
|
|
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
|
|
|
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
|
|
|
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
|
|
|
NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro)
|
rs2123535291
|
|
NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
|
|
|
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.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.781GCGGGCGGC[3] (p.261AGG[3])
|
rs764571894
|
|
NM_004977.3(KCNC3):c.98C>G (p.Pro33Arg)
|
|
|
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.346A>G (p.Asn116Asp)
|
rs1456416134
|
|
NM_005861.4(STUB1):c.391T>C (p.Phe131Leu)
|
rs2151504534
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)
|
|
|
NM_005861.4(STUB1):c.612+4_612+46del
|
rs2151505435
|
|
NM_005861.4(STUB1):c.669+2T>C
|
|
|
NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)
|
|
|
NM_005861.4(STUB1):c.746G>T (p.Gly249Val)
|
rs2151506587
|
|
NM_005861.4(STUB1):c.876_887del (p.Phe293_Glu296del)
|
|
|
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
|
|
|
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter)
|
rs1376427129
|
|
NM_006237.4(POU4F1):c.445G>A (p.Gly149Ser)
|
|
|
NM_006289.4(TLN1):c.2176dup (p.Thr726fs)
|
|
|
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)
|
|
|
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del)
|
rs777476390
|
|
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)
|
|
|
NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg)
|
rs2086850165
|
|
NM_006793.5(PRDX3):c.451G>A (p.Gly151Ser)
|
|
|
NM_006796.3(AFG3L2):c.-18A>G
|
rs886053618
|
|
NM_006796.3(AFG3L2):c.-78C>A
|
rs1909190689
|
|
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp)
|
rs1168932758
|
|
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.2114T>C (p.Ile705Thr)
|
rs1598820805
|
|
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe)
|
rs1907781566
|
|
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)
|
|
|
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)
|
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.53G>T (p.Gly18Val)
|
rs866272063
|
|
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.1154C>T (p.Thr385Met)
|
|
|
NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro)
|
rs1590954146
|
|
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.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.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.254T>C (p.Leu85Pro)
|
|
|
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
|
|
|
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val)
|
rs763021473
|
|
NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter)
|
rs1402216317
|
|
NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)
|
|
|
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=)
|
rs886048551
|
|
NM_006946.4(SPTBN2):c.3777-3C>G
|
|
|
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.571G>T (p.Ala191Ser)
|
|
|
NM_006946.4(SPTBN2):c.584A>G (p.Asn195Ser)
|
|
|
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.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.901A>G (p.Met301Val)
|
rs897181468
|
|
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)
|
rs768567927
|
|
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn)
|
rs1473117442
|
|
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)
|
rs1568663138
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)
|
rs775762473
|
|
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)
|
rs377619541
|
|
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)
|
rs3739168
|
|
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu)
|
rs2074784919
|
|
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)
|
rs184666602
|
|
NM_012268.4(PLD3):c.602A>T (p.His201Leu)
|
|
|
NM_012268.4(PLD3):c.615G>A (p.Trp205Ter)
|
rs2079032507
|
|
NM_013236.4(ATXN10):c.116+4A>T
|
rs1160067775
|
|
NM_013236.4(ATXN10):c.1165C>T (p.Gln389Ter)
|
|
|
NM_014053.4(FLVCR1):c.*1021A>G
|
rs551356467
|
|
NM_014053.4(FLVCR1):c.*1246T>C
|
rs1665339009
|
|
NM_014053.4(FLVCR1):c.*1880TAAA[10]
|
rs141272551
|
|
NM_014053.4(FLVCR1):c.*1880TAAA[9]
|
rs141272551
|
|
NM_014053.4(FLVCR1):c.*1952C>A
|
rs886045938
|
|
NM_014053.4(FLVCR1):c.*2061CA[11]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*2061CA[12]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*2061CA[20]
|
rs139242973
|
|
NM_014053.4(FLVCR1):c.*2495C>T
|
rs1665380437
|
|
NM_014053.4(FLVCR1):c.*2591G>C
|
rs904043805
|
|
NM_014053.4(FLVCR1):c.*2672_*2673del
|
rs557446640
|
|
NM_014053.4(FLVCR1):c.*2704T>G
|
rs1665384723
|
|
NM_014053.4(FLVCR1):c.*2949G>A
|
rs756936130
|
|
NM_014053.4(FLVCR1):c.*3127_*3128insGATA
|
rs1553266731
|
|
NM_014053.4(FLVCR1):c.*3129A>T
|
rs202125545
|
|
NM_014053.4(FLVCR1):c.*326T>C
|
rs1665314385
|
|
NM_014053.4(FLVCR1):c.*3337G>C
|
rs1665402320
|
|
NM_014053.4(FLVCR1):c.*3598G>C
|
rs886045944
|
|
NM_014053.4(FLVCR1):c.*3756C>T
|
rs1175866801
|
|
NM_014053.4(FLVCR1):c.*384T>C
|
rs886045931
|
|
NM_014053.4(FLVCR1):c.*422G>A
|
rs1665316878
|
|
NM_014053.4(FLVCR1):c.*740T>G
|
rs1665325309
|
|
NM_014053.4(FLVCR1):c.*785C>T
|
rs1665326608
|
|
NM_014053.4(FLVCR1):c.*838CT[2]
|
rs549002753
|
|
NM_014053.4(FLVCR1):c.*847T>C
|
rs1665329642
|
|
NM_014053.4(FLVCR1):c.*855del
|
rs752835859
|
|
NM_014053.4(FLVCR1):c.*855dup
|
rs752835859
|
|
NM_014053.4(FLVCR1):c.-154G>T
|
rs554048351
|
|
NM_014053.4(FLVCR1):c.-166G>C
|
rs1664078764
|
|
NM_014053.4(FLVCR1):c.-168C>G
|
rs1572000804
|
|
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala)
|
rs775587493
|
|
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg)
|
rs1665115556
|
|
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu)
|
rs1665131014
|
|
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val)
|
rs767746826
|
|
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=)
|
rs534403116
|
|
NM_014053.4(FLVCR1):c.51G>C (p.Pro17=)
|
rs886045924
|
|
NM_014053.4(FLVCR1):c.534G>C (p.Leu178=)
|
rs886045925
|
|
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg)
|
rs886045926
|
|
NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg)
|
|
|
NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr)
|
|
|
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala)
|
rs1664320715
|
|
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu)
|
rs886045927
|
|
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val)
|
rs1294845921
|
|
NM_014363.6(SACS):c.*1039C>T
|
rs1593117762
|
|
NM_014363.6(SACS):c.*1142G>A
|
rs1883304820
|
|
NM_014363.6(SACS):c.*1162C>G
|
rs1883303203
|
|
NM_014363.6(SACS):c.*1292A>T
|
rs147476665
|
|
NM_014363.6(SACS):c.*716T>G
|
rs1883326909
|
|
NM_014363.6(SACS):c.*919T>C
|
rs1883315768
|
|
NM_014363.6(SACS):c.-502+2T>G
|
rs1874525003
|
|
NM_014363.6(SACS):c.10011C>G (p.Ile3337Met)
|
rs780642116
|
|
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)
|
rs372488932
|
|
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg)
|
rs200991790
|
|
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
|
rs1883623876
|
|
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del)
|
rs1555250217
|
|
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle)
|
rs886043821
|
|
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro)
|
rs1883615724
|
|
NM_014363.6(SACS):c.10515A>C (p.Ser3505=)
|
rs1883615412
|
|
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln)
|
rs1883614344
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)
|
rs1555250156
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe)
|
rs1883603870
|
|
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)
|
rs886050077
|
|
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)
|
rs771277098
|
|
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu)
|
rs994425261
|
|
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro)
|
rs150900362
|
|
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg)
|
rs886050076
|
|
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg)
|
rs1883577094
|
|
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del)
|
rs2137570036
|
|
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)
|
rs1883575875
|
|
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
|
|
|
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)
|
rs1027336196
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala)
|
rs2137566609
|
|
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
|
|
|
NM_014363.6(SACS):c.1173T>C (p.Ser391=)
|
rs150683286
|
|
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)
|
rs764554878
|
|
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)
|
|
|
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
|
rs1883510768
|
|
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del)
|
rs1555249772
|
|
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn)
|
rs1883504909
|
|
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
|
|
|
NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu)
|
|
|
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)
|
rs1314135259
|
|
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr)
|
rs1883497856
|
|
NM_014363.6(SACS):c.12063T>C (p.His4021=)
|
rs886050074
|
|
NM_014363.6(SACS):c.12232C>A (p.Arg4078=)
|
rs141315518
|
|
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
|
|
|
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)
|
rs1163399365
|
|
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His)
|
rs886050073
|
|
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del)
|
rs1555249469
|
|
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)
|
rs779668584
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del)
|
rs764766520
|
|
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del)
|
rs1555249424
|
|
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
|
rs781029021
|
|
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
|
rs778808568
|
|
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp)
|
rs1555249369
|
|
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser)
|
rs886050072
|
|
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
|
rs775817492
|
|
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly)
|
rs951437363
|
|
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
|
rs759847087
|
|
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter)
|
rs1555249236
|
|
NM_014363.6(SACS):c.13360del (p.Ala4454fs)
|
rs1555249223
|
|
NM_014363.6(SACS):c.13393del (p.Leu4465fs)
|
rs1555249211
|
|
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)
|
rs757326594
|
|
NM_014363.6(SACS):c.13512A>G (p.Ala4504=)
|
rs886050070
|
|
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)
|
rs1555249133
|
|
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
|
rs766497653
|
|
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)
|
rs2137547970
|
|
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)
|
rs1178912631
|
|
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
|
rs776682685
|
|
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)
|
rs1593144937
|
|
NM_014363.6(SACS):c.141G>A (p.Ser47=)
|
rs1593160882
|
|
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys)
|
rs746704660
|
|
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe)
|
rs1555254306
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1593C>G (p.Ile531Met)
|
rs113756713
|
|
NM_014363.6(SACS):c.1627G>A (p.Val543Met)
|
rs752705095
|
|
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg)
|
rs1348513054
|
|
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
|
|
|
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
|
rs764516069
|
|
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe)
|
rs374680967
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln)
|
rs2137645971
|
|
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro)
|
rs2137645971
|
|
NM_014363.6(SACS):c.2322A>G (p.Pro774=)
|
rs1869225328
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)
|
rs774682589
|
|
NM_014363.6(SACS):c.25G>A (p.Val9Ile)
|
rs939705811
|
|
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del)
|
rs771746381
|
|
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile)
|
rs2137641417
|
|
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)
|
rs139993038
|
|
NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)
|
|
|
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del)
|
rs1555252742
|
|
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu)
|
rs1869134973
|
|
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr)
|
rs764812936
|
|
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del)
|
rs1555252672
|
|
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser)
|
rs1202128043
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3429A>G (p.Gln1143=)
|
rs1869096503
|
|
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr)
|
rs886050087
|
|
NM_014363.6(SACS):c.3615C>T (p.Ile1205=)
|
rs886050086
|
|
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg)
|
rs1192682879
|
|
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup)
|
rs1555252563
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)
|
rs1869039514
|
|
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
|
|
|
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
|
|
|
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del)
|
rs755941308
|
|
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del)
|
rs1555252463
|
|
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe)
|
rs961377840
|
|
NM_014363.6(SACS):c.4268A>G (p.His1423Arg)
|
rs2137629036
|
|
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr)
|
rs2137627792
|
|
NM_014363.6(SACS):c.4522A>C (p.Asn1508His)
|
rs144653411
|
|
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)
|
rs764832688
|
|
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
|
|
|
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly)
|
rs886050085
|
|
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
|
rs755523201
|
|
NM_014363.6(SACS):c.5043C>T (p.His1681=)
|
rs1868915593
|
|
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile)
|
rs775069857
|
|
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis)
|
rs1555252172
|
|
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
|
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr)
|
rs758381112
|
|
NM_014363.6(SACS):c.5304_5306del (p.His1769del)
|
rs1555252136
|
|
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del)
|
rs775922113
|
|
NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg)
|
rs1868850876
|
|
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
|
rs1344578174
|
|
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)
|
rs1868847058
|
|
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)
|
rs1555252070
|
|
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
|
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)
|
rs758570844
|
|
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu)
|
rs1329947939
|
|
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
|
rs141019064
|
|
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp)
|
rs2137615220
|
|
NM_014363.6(SACS):c.5858A>T (p.His1953Leu)
|
rs1428265468
|
|
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del)
|
rs1555251980
|
|
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del)
|
rs1555251960
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr)
|
rs2137613081
|
|
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val)
|
rs758895050
|
|
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly)
|
rs1234193312
|
|
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr)
|
rs2137612456
|
|
NM_014363.6(SACS):c.6231_6233del (p.Met2077del)
|
rs1555251880
|
|
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)
|
rs757161092
|
|
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser)
|
rs1566066009
|
|
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val)
|
rs1415663565
|
|
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val)
|
rs886050084
|
|
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)
|
rs1204242892
|
|
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys)
|
rs1555251719
|
|
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
|
rs1044714793
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu)
|
rs886050083
|
|
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del)
|
rs1555251695
|
|
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
|
rs774487714
|
|
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg)
|
rs1190128123
|
|
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr)
|
rs886050082
|
|
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del)
|
rs1555251650
|
|
NM_014363.6(SACS):c.6844T>C (p.Leu2282=)
|
rs1868678889
|
|
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del)
|
rs1555251633
|
|
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)
|
rs1397588851
|
|
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)
|
rs1868664491
|
|
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del)
|
rs1555251573
|
|
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp)
|
rs1868637796
|
|
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
|
|
|
NM_014363.6(SACS):c.736C>G (p.Gln246Glu)
|
rs886050089
|
|
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys)
|
rs2137600321
|
|
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer)
|
rs1555251416
|
|
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser)
|
rs777424692
|
|
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs)
|
rs1467848128
|
|
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp)
|
rs2137599038
|
|
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)
|
rs750491874
|
|
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly)
|
rs1868573738
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.7795G>C (p.Asp2599His)
|
rs1868563918
|
|
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del)
|
rs1555251315
|
|
NM_014363.6(SACS):c.7857T>C (p.Thr2619=)
|
rs886050081
|
|
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del)
|
rs1555251289
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
NM_014363.6(SACS):c.8056C>T (p.Leu2686=)
|
rs748595405
|
|
NM_014363.6(SACS):c.827G>A (p.Arg276His)
|
|
|
NM_014363.6(SACS):c.8341C>G (p.His2781Asp)
|
rs886050080
|
|
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)
|
rs1555254436
|
|
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del)
|
rs1555251001
|
|
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)
|
rs1868466055
|
|
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
|
|
|
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser)
|
rs886050079
|
|
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala)
|
rs1566062448
|
|
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)
|
rs1868452276
|
|
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
|
rs9552929
|
|
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr)
|
rs1868444121
|
|
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala)
|
rs2137587151
|
|
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
|
|
|
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)
|
rs1085307569
|
|
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del)
|
rs1388341388
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del)
|
rs1161557781
|
|
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile)
|
rs1883687760
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del)
|
rs768958169
|
|
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)
|
rs1883670937
|
|
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del)
|
rs1293576848
|
|
NM_014363.6(SACS):c.9898_9900del (p.Val3300del)
|
rs762506287
|
|
NM_014363.6(SACS):c.9912C>T (p.Leu3304=)
|
rs1593124372
|
|
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp)
|
rs746252249
|
|
NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala)
|
rs1451522942
|
|
NM_014687.4(RUBCN):c.1262-1G>C
|
|
|
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
|
|
|
NM_014687.4(RUBCN):c.1474-5G>T
|
|
|
NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)
|
|
|
NM_014687.4(RUBCN):c.2537A>G (p.Asp846Gly)
|
rs2108833855
|
|
NM_014889.4(PITRM1):c.1634G>A (p.Arg545Gln)
|
|
|
NM_015046.5(SETX):c.-190G>A
|
rs1055615359
|
|
NM_015046.7(SETX):c.*1050A>C
|
rs1842477894
|
|
NM_015046.7(SETX):c.*1148T>C
|
rs138991890
|
|
NM_015046.7(SETX):c.*1233A>G
|
rs1388263414
|
|
NM_015046.7(SETX):c.*1433A>T
|
rs886063550
|
|
NM_015046.7(SETX):c.*1487A>G
|
rs1842460355
|
|
NM_015046.7(SETX):c.*1494A>G
|
rs1327797847
|
|
NM_015046.7(SETX):c.*1713C>T
|
rs771853459
|
|
NM_015046.7(SETX):c.*1987T>C
|
rs1589593075
|
|
NM_015046.7(SETX):c.*2002A>G
|
rs886063547
|
|
NM_015046.7(SETX):c.*2015C>T
|
rs552487555
|
|
NM_015046.7(SETX):c.*2136A>T
|
rs886063545
|
|
NM_015046.7(SETX):c.*2190A>G
|
rs531640605
|
|
NM_015046.7(SETX):c.*2576_*2577del
|
rs886063544
|
|
NM_015046.7(SETX):c.*2639T>C
|
rs886063543
|
|
NM_015046.7(SETX):c.*266A>G
|
rs575959163
|
|
NM_015046.7(SETX):c.*2753G>A
|
rs886063542
|
|
NM_015046.7(SETX):c.*608G>C
|
rs528924481
|
|
NM_015046.7(SETX):c.-154G>C
|
rs886063561
|
|
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
|
|
|
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
|
|
|
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
|
|
|
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)
|
rs1554821963
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)
|
rs774123592
|
|
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
|
|
|
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)
|
rs886063559
|
|
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser)
|
rs2131461800
|
|
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)
|
rs754200234
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
|
|
|
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)
|
rs1589791895
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
|
|
|
NM_015046.7(SETX):c.156T>C (p.Asp52=)
|
rs1848476611
|
|
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)
|
rs2131460183
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp)
|
rs1847120441
|
|
NM_015046.7(SETX):c.173A>G (p.His58Arg)
|
|
|
NM_015046.7(SETX):c.177+6A>G
|
rs2131575018
|
|
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
|
|
|
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
|
|
|
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
|
|
|
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe)
|
rs143340285
|
|
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
|
|
|
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
|
|
|
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp)
|
rs998278975
|
|
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)
|
rs886063557
|
|
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
|
|
|
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
|
|
|
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
|
|
|
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
|
|
|
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
|
|
|
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)
|
|
|
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)
|
rs1554821571
|
|
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
|
|
|
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly)
|
rs2131454695
|
|
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
|
|
|
NM_015046.7(SETX):c.2303A>T (p.Lys768Met)
|
rs1554821462
|
|
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
|
|
|
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu)
|
rs2131453786
|
|
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)
|
rs1554821445
|
|
NM_015046.7(SETX):c.23C>T (p.Thr8Met)
|
rs1057520367
|
|
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
|
|
|
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
|
|
|
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
|
|
|
NM_015046.7(SETX):c.2516A>T (p.His839Leu)
|
rs1847047743
|
|
NM_015046.7(SETX):c.2517C>T (p.His839=)
|
rs1464623855
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg)
|
rs774820992
|
|
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
|
|
|
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
|
|
|
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
|
|
|
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
|
|
|
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu)
|
rs2131450530
|
|
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
|
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
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NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
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NM_015046.7(SETX):c.2783G>A (p.Ser928Asn)
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rs1258279869
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NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
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NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)
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rs1847020598
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NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
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NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
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NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
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rs1847007637
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NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
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NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
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rs765663814
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NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
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rs572772837
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NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
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NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
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NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
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NM_015046.7(SETX):c.3208C>G (p.Leu1070Val)
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rs931570379
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NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
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NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser)
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rs1564542121
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NM_015046.7(SETX):c.3265G>A (p.Val1089Met)
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rs917637229
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NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
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NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
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NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
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rs886063560
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NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
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rs1564541749
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NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp)
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rs1278965355
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NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala)
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rs866546546
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NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)
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rs907569728
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NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
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NM_015046.7(SETX):c.3422A>T (p.His1141Leu)
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rs1554820904
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NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)
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rs748505684
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NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)
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rs1554820858
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NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
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NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)
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rs1846954116
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NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
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NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
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NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala)
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rs1846942479
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NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del)
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rs1238089698
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NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
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NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe)
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rs2131440671
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NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
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NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
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NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)
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rs1467137301
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NM_015046.7(SETX):c.3737A>C (p.His1246Pro)
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rs2131440106
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NM_015046.7(SETX):c.3796_3798del (p.Pro1266del)
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rs2131439346
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NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
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NM_015046.7(SETX):c.388+8T>G
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NM_015046.7(SETX):c.389-9del
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rs534931548
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NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
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NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
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rs1564539968
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NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
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rs766625711
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NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
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NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
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NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
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rs769558791
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NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
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NM_015046.7(SETX):c.4053A>G (p.Gln1351=)
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rs886063553
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NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
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NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
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NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
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NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
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NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
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NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
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rs1589737441
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NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
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NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
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rs1477696040
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NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
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NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
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NM_015046.7(SETX):c.43A>G (p.Ile15Val)
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rs151040199
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NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
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NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
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NM_015046.7(SETX):c.4517T>A (p.Met1506Lys)
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rs199974622
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NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
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rs199974622
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NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
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NM_015046.7(SETX):c.4601A>T (p.Asp1534Val)
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rs1554820219
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NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys)
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rs2131431252
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NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)
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rs1554820196
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NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
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NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr)
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rs781383567
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NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser)
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rs1846817047
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NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
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NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
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NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
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NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)
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rs1022473091
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NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
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rs375942182
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NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
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NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
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NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
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NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
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NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
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NM_015046.7(SETX):c.5024del (p.Pro1675fs)
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rs1554820021
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NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
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NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)
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rs1846757741
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NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
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NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
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rs762175796
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NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
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NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)
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rs886063552
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NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
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NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
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NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
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NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
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NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
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NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
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NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
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NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu)
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rs2131306081
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NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
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NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
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NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
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NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro)
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rs1844774142
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NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)
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rs1443102808
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NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
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rs1844714133
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NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr)
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rs1844713785
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NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
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NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
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NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser)
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rs1403263153
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NM_015046.7(SETX):c.589T>A (p.Phe197Ile)
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rs1847622210
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NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
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NM_015046.7(SETX):c.590T>C (p.Phe197Ser)
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rs1847622037
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NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
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NM_015046.7(SETX):c.5949+4_5949+7del
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rs1844702677
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NM_015046.7(SETX):c.5949G>A (p.Glu1983=)
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rs2131289331
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NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser)
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rs2131284986
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NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
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NM_015046.7(SETX):c.60C>T (p.Arg20=)
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rs553346505
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NM_015046.7(SETX):c.6106+8A>G
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rs1314479594
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NM_015046.7(SETX):c.6107-3C>T
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NM_015046.7(SETX):c.6107-7T>A
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rs766634428
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NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys)
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rs762479596
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NM_015046.7(SETX):c.617A>C (p.Glu206Ala)
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rs759880306
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NM_015046.7(SETX):c.6181T>A (p.Leu2061Met)
|
rs2131247894
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NM_015046.7(SETX):c.6209-12T>G
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NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
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NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
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NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
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NM_015046.7(SETX):c.6324+5C>G
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NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)
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rs1589647043
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NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly)
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rs957607977
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NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln)
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rs1387036733
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NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
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rs1473613373
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NM_015046.7(SETX):c.64G>T (p.Ala22Ser)
|
rs756600708
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NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys)
|
rs1843647719
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|
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu)
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rs1843510567
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|
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
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|
|
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala)
|
rs1843502057
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|
NM_015046.7(SETX):c.6654+5G>A
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rs1843497922
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|
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)
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rs774068411
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|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
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|
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys)
|
rs2131182464
|
|
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
|
|
|
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
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|
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu)
|
rs1843274414
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|
NM_015046.7(SETX):c.6808A>C (p.Asn2270His)
|
rs1843272035
|
|
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
|
|
|
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala)
|
rs1843271572
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
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|
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
|
|
|
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del)
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|
|
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
|
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|
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
|
|
|
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
|
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
NM_015046.7(SETX):c.7100+7C>T
|
|
|
NM_015046.7(SETX):c.7101-16T>C
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp)
|
rs2131148064
|
|
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe)
|
rs150489999
|
|
NM_015046.7(SETX):c.7200-3T>C
|
|
|
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
|
|
|
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
|
|
|
NM_015046.7(SETX):c.727A>G (p.Met243Val)
|
|
|
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val)
|
rs1564464665
|
|
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
|
|
|
NM_015046.7(SETX):c.7370A>G (p.His2457Arg)
|
rs753051382
|
|
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr)
|
rs1182285610
|
|
NM_015046.7(SETX):c.737C>G (p.Thr246Ser)
|
rs1847481832
|
|
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
|
|
|
NM_015046.7(SETX):c.7427C>A (p.Pro2476His)
|
rs767515528
|
|
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser)
|
rs771027936
|
|
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys)
|
rs2131114345
|
|
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
|
|
|
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn)
|
rs1564464193
|
|
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7530C>G (p.His2510Gln)
|
rs1303389955
|
|
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)
|
rs557347174
|
|
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
|
|
|
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys)
|
rs2131113325
|
|
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp)
|
rs2131113303
|
|
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
|
|
|
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg)
|
rs2131113093
|
|
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
|
|
|
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
|
|
|
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter)
|
rs1039417117
|
|
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)
|
rs1842546596
|
|
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
|
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly)
|
rs2131112014
|
|
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
|
|
|
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
|
rs1842537896
|
|
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer)
|
rs2131111712
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.77C>G (p.Pro26Arg)
|
rs377617692
|
|
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)
|
rs765888424
|
|
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr)
|
rs979454428
|
|
NM_015046.7(SETX):c.784A>G (p.Lys262Glu)
|
rs2131492208
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg)
|
rs778362262
|
|
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
|
|
|
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
|
|
|
NM_015046.7(SETX):c.7984del (p.Arg2662fs)
|
rs2131109788
|
|
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
|
|
|
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
|
|
|
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)
|
rs749325764
|
|
NM_015046.7(SETX):c.823G>C (p.Glu275Gln)
|
rs901741485
|
|
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
|
|
|
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
|
|
|
NM_015046.7(SETX):c.988C>T (p.His330Tyr)
|
rs1847220041
|
|
NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe)
|
rs2131591617
|
|
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
|
|
|
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro)
|
rs769031961
|
|
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)
|
|
|
NM_015160.3(PMPCA):c.634-266T>G
|
rs755207442
|
|
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)
|
|
|
NM_015160.3(PMPCA):c.71+3G>A
|
|
|
NM_015160.3(PMPCA):c.897+6G>A
|
rs150776126
|
|
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.1378G>A (p.Val460Met)
|
|
|
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
|
|
|
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
|
|
|
NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)
|
rs879255532
|
|
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
|
|
|
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
|
|
|
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
|
|
|
NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)
|
rs1557636777
|
|
NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)
|
|
|
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.2585G>C (p.Gly862Ala)
|
|
|
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
|
|
|
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.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.3356C>T (p.Ala1119Val)
|
rs1577305812
|
|
NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)
|
|
|
NM_015215.4(CAMTA1):c.363del (p.Tyr122fs)
|
rs2149302921
|
|
NM_015215.4(CAMTA1):c.3862A>G (p.Ser1288Gly)
|
|
|
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
|
|
|
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile)
|
rs1435279555
|
|
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
|
|
|
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.4990-3503A>C
|
rs2150309041
|
|
NM_015215.4(CAMTA1):c.511-22_511-19del
|
rs2095751767
|
|
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.809C>T (p.Ala270Val)
|
rs2149152505
|
|
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)
|
rs767725186
|
|
NM_015272.5(RPGRIP1L):c.*1035T>C
|
rs763384255
|
|
NM_015272.5(RPGRIP1L):c.*125G>T
|
rs868861934
|
|
NM_015272.5(RPGRIP1L):c.*133T>A
|
rs1963396187
|
|
NM_015272.5(RPGRIP1L):c.*159T>G
|
rs1963395143
|
|
NM_015272.5(RPGRIP1L):c.*1645A>T
|
rs144554139
|
|
NM_015272.5(RPGRIP1L):c.*626A>C
|
rs886052089
|
|
NM_015272.5(RPGRIP1L):c.*846A>T
|
rs1963365021
|
|
NM_015272.5(RPGRIP1L):c.*875A>G
|
rs886052088
|
|
NM_015272.5(RPGRIP1L):c.-16A>G
|
rs909461672
|
|
NM_015272.5(RPGRIP1L):c.-8G>T
|
rs1020579838
|
|
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)
|
rs565245381
|
|
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)
|
rs181526554
|
|
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys)
|
rs776941281
|
|
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)
|
rs1967370164
|
|
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu)
|
rs1029054579
|
|
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu)
|
rs976110882
|
|
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=)
|
rs1967363312
|
|
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile)
|
rs886052097
|
|
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)
|
rs2151128525
|
|
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)
|
rs981992752
|
|
NM_015272.5(RPGRIP1L):c.230+14G>A
|
rs1970739259
|
|
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)
|
rs2151082906
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)
|
rs1966216548
|
|
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe)
|
rs576417383
|
|
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr)
|
rs886052095
|
|
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val)
|
rs886052098
|
|
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
|
rs752076060
|
|
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)
|
rs574430009
|
|
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)
|
rs182207372
|
|
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His)
|
rs886052094
|
|
NM_015272.5(RPGRIP1L):c.3220+13T>C
|
rs376659273
|
|
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)
|
rs1436841364
|
|
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu)
|
rs886052092
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)
|
rs761954313
|
|
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)
|
rs2150909535
|
|
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)
|
rs773361667
|
|
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)
|
rs987512823
|
|
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)
|
rs376808910
|
|
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)
|
rs1195150584
|
|
NM_015289.5(VPS39):c.442-2A>G
|
|
|
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
|
|
|
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val)
|
rs772644485
|
|
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
|
|
|
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu)
|
rs1644798894
|
|
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
|
|
|
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
|
|
|
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
|
|
|
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
|
|
|
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser)
|
rs151332868
|
|
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met)
|
rs1436479178
|
|
NM_015378.4(VPS13D):c.4451-16A>G
|
rs768036528
|
|
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg)
|
rs779567569
|
|
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
|
|
|
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
|
|
|
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
|
|
|
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu)
|
rs201376188
|
|
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg)
|
rs868755481
|
|
NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met)
|
rs1232333514
|
|
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu)
|
rs750000898
|
|
NM_016169.3(SUFU):c.-189C>T
|
rs1589969363
|
|
NM_016169.3(SUFU):c.-202C>T
|
rs1222242003
|
|
NM_016169.4(SUFU):c.*1104C>T
|
rs886046657
|
|
NM_016169.4(SUFU):c.*131C>G
|
rs886046654
|
|
NM_016169.4(SUFU):c.*1389C>T
|
rs886046658
|
|
NM_016169.4(SUFU):c.*138C>T
|
rs2063826618
|
|
NM_016169.4(SUFU):c.*1690A>G
|
rs955282121
|
|
NM_016169.4(SUFU):c.*1720C>G
|
rs536068954
|
|
NM_016169.4(SUFU):c.*1785C>T
|
rs1047091410
|
|
NM_016169.4(SUFU):c.*1889C>T
|
rs139020703
|
|
NM_016169.4(SUFU):c.*2479C>T
|
rs2063847339
|
|
NM_016169.4(SUFU):c.*2553T>C
|
rs886046662
|
|
NM_016169.4(SUFU):c.*2657T>C
|
rs2063848688
|
|
NM_016169.4(SUFU):c.*2757G>A
|
rs758662176
|
|
NM_016169.4(SUFU):c.*3110C>T
|
rs141940845
|
|
NM_016169.4(SUFU):c.*3239C>G
|
rs538132960
|
|
NM_016169.4(SUFU):c.*3239_*3241del
|
rs767259911
|
|
NM_016169.4(SUFU):c.*352C>G
|
rs139725961
|
|
NM_016169.4(SUFU):c.-103C>A
|
rs886046653
|
|
NM_016169.4(SUFU):c.-163A>G
|
rs886046652
|
|
NM_016169.4(SUFU):c.-181A>G
|
rs867202826
|
|
NM_016169.4(SUFU):c.-81C>A
|
rs546107381
|
|
NM_016169.4(SUFU):c.-81C>T
|
rs546107381
|
|
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
|
|
|
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro)
|
rs2063496437
|
|
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
|
|
|
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn)
|
rs145082320
|
|
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
|
|
|
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr)
|
rs145082320
|
|
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro)
|
rs369910221
|
|
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
|
|
|
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala)
|
rs2063496822
|
|
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
|
|
|
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile)
|
|
|
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
|
|
|
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
|
|
|
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)
|
rs79299301
|
|
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
|
|
|
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly)
|
rs1590082122
|
|
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
|
|
|
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
|
|
|
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys)
|
rs1447671524
|
|
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr)
|
rs1419645738
|
|
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
|
|
|
NM_016169.4(SUFU):c.104A>G (p.His35Arg)
|
rs2062292023
|
|
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
|
|
|
NM_016169.4(SUFU):c.1057A>T (p.Thr353Ser)
|
rs1043574191
|
|
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr)
|
rs1554854570
|
|
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly)
|
rs1554854572
|
|
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val)
|
rs1564706425
|
|
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe)
|
rs1564706425
|
|
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met)
|
rs2063673886
|
|
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
|
|
|
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
|
|
|
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
|
|
|
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
|
|
|
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
|
|
|
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met)
|
rs1590082200
|
|
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu)
|
rs755390277
|
|
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala)
|
rs2135930147
|
|
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)
|
rs1305395503
|
|
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
|
|
|
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro)
|
rs2063674539
|
|
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg)
|
rs746580970
|
|
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu)
|
rs149449923
|
|
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala)
|
rs1554854584
|
|
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp)
|
rs2063674917
|
|
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr)
|
rs1265012285
|
|
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
|
|
|
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
|
|
|
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg)
|
rs1256959985
|
|
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
|
|
|
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
|
|
|
NM_016169.4(SUFU):c.1139T>A (p.Leu380His)
|
rs2063675268
|
|
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys)
|
rs2062292284
|
|
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
|
|
|
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr)
|
rs2135930458
|
|
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
|
|
|
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu)
|
rs1401882800
|
|
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
|
|
|
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg)
|
rs375419295
|
|
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
|
|
|
NM_016169.4(SUFU):c.1158-3C>T
|
rs936830108
|
|
NM_016169.4(SUFU):c.1159G>A (p.Gly387Ser)
|
|
|
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
|
|
|
NM_016169.4(SUFU):c.116G>T (p.Gly39Val)
|
rs756123785
|
|
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
|
|
|
NM_016169.4(SUFU):c.1172A>G (p.His391Arg)
|
rs2063696863
|
|
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg)
|
rs2063696912
|
|
NM_016169.4(SUFU):c.1174_1175dup (p.Arg393fs)
|
rs1564707343
|
|
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
|
|
|
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
|
|
|
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
|
|
|
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn)
|
rs1421345157
|
|
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr)
|
rs1421345157
|
|
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
|
|
|
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
|
|
|
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile)
|
rs776868943
|
|
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp)
|
rs2063697237
|
|
NM_016169.4(SUFU):c.1210A>G (p.Met404Val)
|
rs1312190379
|
|
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys)
|
rs2063697367
|
|
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
|
|
|
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
|
|
|
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val)
|
rs1060501116
|
|
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
|
|
|
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
|
|
|
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
|
|
|
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
|
|
|
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu)
|
rs1590084228
|
|
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp)
|
rs2135935261
|
|
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr)
|
rs779490664
|
|
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser)
|
rs779490664
|
|
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp)
|
rs2063698018
|
|
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro)
|
rs2063698088
|
|
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
|
|
|
NM_016169.4(SUFU):c.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
|
|
|
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg)
|
rs1590084270
|
|
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
|
|
|
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val)
|
rs1427876079
|
|
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr)
|
rs1189930416
|
|
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val)
|
rs772895878
|
|
NM_016169.4(SUFU):c.1291T>G (p.Leu431Val)
|
rs141950577
|
|
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
|
|
|
NM_016169.4(SUFU):c.1296+10C>T
|
|
|
NM_016169.4(SUFU):c.1296+3G>A
|
rs2135935586
|
|
NM_016169.4(SUFU):c.1296+4_1296+459del
|
rs2063698594
|
|
NM_016169.4(SUFU):c.1296+5G>A
|
|
|
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
|
|
|
NM_016169.4(SUFU):c.1312del (p.Glu438fs)
|
rs2135954200
|
|
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
|
|
|
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser)
|
rs778975698
|
|
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
|
|
|
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala)
|
rs2135954241
|
|
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val)
|
rs2063793808
|
|
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile)
|
rs773805575
|
|
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe)
|
rs2135954289
|
|
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn)
|
rs2135954318
|
|
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val)
|
rs2135954327
|
|
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys)
|
rs2135954335
|
|
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu)
|
rs1564711403
|
|
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe)
|
rs774611157
|
|
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe)
|
rs2135954349
|
|
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
|
|
|
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr)
|
rs2135954353
|
|
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
|
|
|
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
|
|
|
NM_016169.4(SUFU):c.1365+6C>T
|
|
|
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)
|
|
|
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
|
|
|
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg)
|
rs947720538
|
|
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
|
|
|
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
|
|
|
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser)
|
rs2063824067
|
|
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
|
|
|
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu)
|
rs2135598488
|
|
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
|
|
|
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn)
|
rs2062292973
|
|
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe)
|
rs1590094982
|
|
NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)
|
|
|
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn)
|
rs1318484622
|
|
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs)
|
rs1324912821
|
|
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
|
|
|
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg)
|
rs765358771
|
|
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro)
|
rs1060501115
|
|
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
|
|
|
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr)
|
rs2135959641
|
|
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del)
|
rs2063824850
|
|
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
|
|
|
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
|
|
|
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser)
|
rs2062293449
|
|
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr)
|
rs2135598653
|
|
NM_016169.4(SUFU):c.155T>A (p.Leu52His)
|
rs2135598661
|
|
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg)
|
rs1589970174
|
|
NM_016169.4(SUFU):c.160G>A (p.Val54Ile)
|
rs2135598727
|
|
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser)
|
rs2062288467
|
|
NM_016169.4(SUFU):c.171C>G (p.Ile57Met)
|
rs1283661186
|
|
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
|
|
|
NM_016169.4(SUFU):c.172G>C (p.Val58Leu)
|
rs766897671
|
|
NM_016169.4(SUFU):c.173T>A (p.Val58Asp)
|
rs2135598841
|
|
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
|
|
|
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg)
|
rs2135597134
|
|
NM_016169.4(SUFU):c.182+3A>G
|
rs1589970228
|
|
NM_016169.4(SUFU):c.182+4T>C
|
rs1268149623
|
|
NM_016169.4(SUFU):c.182+6C>T
|
rs889720087
|
|
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly)
|
rs2062288510
|
|
NM_016169.4(SUFU):c.200C>G (p.Pro67Arg)
|
rs1564656995
|
|
NM_016169.4(SUFU):c.202T>G (p.Leu68Val)
|
rs1589975244
|
|
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
|
|
|
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn)
|
rs1589975269
|
|
NM_016169.4(SUFU):c.217A>T (p.Met73Leu)
|
rs1183694060
|
|
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg)
|
rs2135597167
|
|
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)
|
|
|
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
|
|
|
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
|
|
|
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys)
|
rs769696737
|
|
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
|
|
|
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu)
|
rs2062368710
|
|
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr)
|
rs2135620312
|
|
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
|
|
|
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
|
|
|
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys)
|
rs2062368817
|
|
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
|
|
|
NM_016169.4(SUFU):c.247A>C (p.Asn83His)
|
rs2135620366
|
|
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp)
|
rs2135620366
|
|
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala)
|
rs1187640052
|
|
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser)
|
rs1187640052
|
|
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
|
|
|
NM_016169.4(SUFU):c.271A>G (p.Ile91Val)
|
rs759030707
|
|
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn)
|
rs781318691
|
|
NM_016169.4(SUFU):c.273C>G (p.Ile91Met)
|
rs2062369595
|
|
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly)
|
rs2062369652
|
|
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg)
|
rs1060501106
|
|
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu)
|
rs770218907
|
|
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
|
|
|
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr)
|
rs2135620752
|
|
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)
|
|
|
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser)
|
rs975936230
|
|
NM_016169.4(SUFU):c.295T>C (p.Tyr99His)
|
rs2062370032
|
|
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser)
|
rs146181245
|
|
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
|
|
|
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln)
|
rs1040654062
|
|
NM_016169.4(SUFU):c.317+5G>T
|
rs2062370553
|
|
NM_016169.4(SUFU):c.317A>G (p.Glu106Gly)
|
|
|
NM_016169.4(SUFU):c.318-3C>T
|
|
|
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)
|
|
|
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
|
|
|
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)
|
rs1227379293
|
|
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu)
|
rs2062895698
|
|
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
|
|
|
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn)
|
rs781192849
|
|
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
|
|
|
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)
|
|
|
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala)
|
rs1564676348
|
|
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu)
|
rs2062895967
|
|
NM_016169.4(SUFU):c.358T>G (p.Leu120Val)
|
rs1415947980
|
|
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu)
|
rs1216193400
|
|
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
|
|
|
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys)
|
rs1280071055
|
|
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
|
|
|
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
|
|
|
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
|
|
|
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser)
|
rs2135743325
|
|
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
|
|
|
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
|
|
|
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser)
|
rs1564676427
|
|
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
|
|
|
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe)
|
rs1060501111
|
|
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg)
|
rs2135743469
|
|
NM_016169.4(SUFU):c.429C>T (p.Gly143=)
|
rs2062896951
|
|
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1])
|
rs2062289607
|
|
NM_016169.4(SUFU):c.430T>G (p.Leu144Val)
|
rs2135743501
|
|
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala)
|
rs761921681
|
|
NM_016169.4(SUFU):c.442G>A (p.Val148Met)
|
rs763813479
|
|
NM_016169.4(SUFU):c.442G>T (p.Val148Leu)
|
rs763813479
|
|
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
|
|
|
NM_016169.4(SUFU):c.454+4_454+5del
|
|
|
NM_016169.4(SUFU):c.454+6A>T
|
rs2062897274
|
|
NM_016169.4(SUFU):c.454+6_454+8del
|
rs2135743623
|
|
NM_016169.4(SUFU):c.455-10T>A
|
|
|
NM_016169.4(SUFU):c.460A>G (p.Thr154Ala)
|
|
|
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
|
|
|
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys)
|
rs2063414949
|
|
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg)
|
rs1554852266
|
|
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly)
|
rs2063415039
|
|
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
|
|
|
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr)
|
rs978312925
|
|
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)
|
|
|
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
|
|
|
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)
|
|
|
NM_016169.4(SUFU):c.490C>T (p.His164Tyr)
|
rs2063415325
|
|
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
|
|
|
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
|
|
|
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile)
|
rs587778697
|
|
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn)
|
rs2063415661
|
|
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr)
|
rs2063415661
|
|
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)
|
|
|
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1])
|
rs1426839991
|
|
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
|
|
|
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)
|
|
|
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
|
|
|
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn)
|
rs2135867046
|
|
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu)
|
rs2063416132
|
|
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro)
|
rs2063416174
|
|
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
|
|
|
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)
|
|
|
NM_016169.4(SUFU):c.563T>C (p.Val188Ala)
|
rs2063416415
|
|
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp)
|
rs1589969913
|
|
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
|
|
|
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro)
|
rs2135867363
|
|
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala)
|
rs2135867363
|
|
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile)
|
rs2063416715
|
|
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
|
|
|
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
|
|
|
NM_016169.4(SUFU):c.597+15G>A
|
|
|
NM_016169.4(SUFU):c.597G>A (p.Gln199=)
|
rs1060501112
|
|
NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
|
|
|
NM_016169.4(SUFU):c.600C>G (p.Ile200Met)
|
rs149513330
|
|
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile)
|
rs1478836560
|
|
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys)
|
rs1590062858
|
|
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
|
|
|
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
|
|
|
NM_016169.4(SUFU):c.626A>C (p.His209Pro)
|
rs1590062872
|
|
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
|
|
|
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg)
|
rs2063428727
|
|
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys)
|
rs551772204
|
|
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg)
|
rs2063429038
|
|
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
|
|
|
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp)
|
rs761240106
|
|
NM_016169.4(SUFU):c.65C>T (p.Ala22Val)
|
rs761240106
|
|
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
|
|
|
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
|
|
|
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
|
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
|
|
|
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp)
|
rs1590062935
|
|
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser)
|
rs2063429642
|
|
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg)
|
rs1432427138
|
|
NM_016169.4(SUFU):c.677T>C (p.Val226Ala)
|
rs895181370
|
|
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala)
|
rs766666529
|
|
NM_016169.4(SUFU):c.683+7A>T
|
|
|
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly)
|
rs1590063307
|
|
NM_016169.4(SUFU):c.686C>T (p.Ala229Val)
|
rs1590063307
|
|
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
|
|
|
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)
|
rs1060501110
|
|
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser)
|
rs1060501110
|
|
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu)
|
rs1240436102
|
|
NM_016169.4(SUFU):c.696C>G (p.Pro232=)
|
rs2063434189
|
|
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg)
|
rs1590063333
|
|
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
|
|
|
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr)
|
|
|
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala)
|
rs1219870817
|
|
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser)
|
rs1219870817
|
|
NM_016169.4(SUFU):c.712A>G (p.Met238Val)
|
rs2063434374
|
|
NM_016169.4(SUFU):c.713T>C (p.Met238Thr)
|
rs2063434396
|
|
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
|
|
|
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly)
|
rs369465986
|
|
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp)
|
rs369465986
|
|
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)
|
rs1403040084
|
|
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln)
|
rs754218597
|
|
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu)
|
|
|
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser)
|
rs762294261
|
|
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr)
|
rs2063435042
|
|
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser)
|
rs1303650670
|
|
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr)
|
rs2135597901
|
|
NM_016169.4(SUFU):c.741C>G (p.Ile247Met)
|
rs2135872473
|
|
NM_016169.4(SUFU):c.742G>C (p.Asp248His)
|
rs1283509771
|
|
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly)
|
rs2135872517
|
|
NM_016169.4(SUFU):c.748C>T (p.His250Tyr)
|
rs2135872528
|
|
NM_016169.4(SUFU):c.749A>G (p.His250Arg)
|
rs750808785
|
|
NM_016169.4(SUFU):c.74C>T (p.Ala25Val)
|
rs2062291323
|
|
NM_016169.4(SUFU):c.753_756+2dup
|
rs2063435496
|
|
NM_016169.4(SUFU):c.756+10G>T
|
|
|
NM_016169.4(SUFU):c.756A>C (p.Gln252His)
|
rs1317467424
|
|
NM_016169.4(SUFU):c.757-5A>G
|
rs1590065871
|
|
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
|
|
|
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly)
|
rs2135881068
|
|
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr)
|
rs2135881076
|
|
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
|
|
|
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
|
|
|
NM_016169.4(SUFU):c.777C>G (p.Ile259Met)
|
rs749533220
|
|
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln)
|
rs775245784
|
|
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro)
|
rs2063471103
|
|
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile)
|
rs2135881195
|
|
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
|
|
|
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
|
|
|
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr)
|
rs2062291537
|
|
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
|
|
|
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
|
|
|
NM_016169.4(SUFU):c.80C>T (p.Ala27Val)
|
rs1664857380
|
|
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg)
|
rs2063471312
|
|
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
|
|
|
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
|
|
|
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg)
|
rs2063471403
|
|
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
|
|
|
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
|
|
|
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
|
|
|
NM_016169.4(SUFU):c.827A>T (p.Asp276Val)
|
rs772598822
|
|
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala)
|
|
|
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
|
|
|
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn)
|
rs1486885056
|
|
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg)
|
rs1564698718
|
|
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr)
|
rs2063471841
|
|
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
|
|
|
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser)
|
rs2063471841
|
|
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala)
|
rs1215810497
|
|
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys)
|
rs1554852789
|
|
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln)
|
rs1554852789
|
|
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
|
|
|
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
|
|
|
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup)
|
rs2135881773
|
|
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
|
|
|
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup)
|
rs1363458155
|
|
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu)
|
rs200206997
|
|
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp)
|
rs1007675139
|
|
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn)
|
rs750436246
|
|
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys)
|
rs2135881950
|
|
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly)
|
rs755961394
|
|
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp)
|
rs755961394
|
|
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly)
|
rs1406131774
|
|
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn)
|
rs749461207
|
|
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg)
|
rs2062291773
|
|
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
|
|
|
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr)
|
rs193921097
|
|
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe)
|
rs193921097
|
|
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
|
|
|
NM_016169.4(SUFU):c.877A>G (p.Ile293Val)
|
rs574002050
|
|
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn)
|
rs1487599100
|
|
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp)
|
rs761234425
|
|
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
|
|
|
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg)
|
rs2135882221
|
|
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
|
|
|
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu)
|
rs1590066137
|
|
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
|
|
|
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln)
|
rs1197687313
|
|
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
|
|
|
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly)
|
rs757097388
|
|
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys)
|
rs1554852823
|
|
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe)
|
rs1554852823
|
|
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
|
|
|
NM_016169.4(SUFU):c.910+4G>A
|
rs1060501104
|
|
NM_016169.4(SUFU):c.910+5G>A
|
rs2135882479
|
|
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
|
|
|
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
|
|
|
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala)
|
rs1590067989
|
|
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser)
|
rs1590067989
|
|
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
|
|
|
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
|
|
|
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln)
|
rs376797758
|
|
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu)
|
rs2135598089
|
|
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
|
|
|
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys)
|
rs369741612
|
|
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu)
|
rs2135888649
|
|
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe)
|
rs1554853004
|
|
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del)
|
rs2063495678
|
|
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser)
|
rs1479527039
|
|
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn)
|
rs753862598
|
|
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr)
|
rs753862598
|
|
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu)
|
rs2135598107
|
|
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg)
|
rs754716152
|
|
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
|
|
|
NM_016169.4(SUFU):c.965C>A (p.Pro322His)
|
rs2135888788
|
|
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
|
|
|
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe)
|
rs2063495996
|
|
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu)
|
rs2135888846
|
|
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser)
|
rs2135888901
|
|
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala)
|
rs2063496120
|
|
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
|
|
|
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg)
|
rs1060501107
|
|
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)
|
|
|
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)
|
rs2083259164
|
|
NM_016373.4(WWOX):c.1003T>A (p.Trp335Arg)
|
|
|
NM_016373.4(WWOX):c.1015A>C (p.Thr339Pro)
|
rs1429449710
|
|
NM_016373.4(WWOX):c.1016C>T (p.Thr339Ile)
|
|
|
NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys)
|
rs766309882
|
|
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala)
|
rs200699154
|
|
NM_016373.4(WWOX):c.1048A>G (p.Lys350Glu)
|
rs2151386361
|
|
NM_016373.4(WWOX):c.1051T>C (p.Ser351Pro)
|
rs1266850996
|
|
NM_016373.4(WWOX):c.1052C>T (p.Ser351Phe)
|
|
|
NM_016373.4(WWOX):c.1055T>C (p.Met352Thr)
|
|
|
NM_016373.4(WWOX):c.1057-2A>G
|
rs1233583078
|
|
NM_016373.4(WWOX):c.1057-3C>T
|
rs143302415
|
|
NM_016373.4(WWOX):c.1059A>C (p.Gln353His)
|
|
|
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg)
|
rs2051753978
|
|
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)
|
|
|
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)
|
|
|
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro)
|
rs1567624901
|
|
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser)
|
rs1555547940
|
|
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile)
|
rs1555547940
|
|
NM_016373.4(WWOX):c.107A>T (p.Asn36Ile)
|
rs1316489119
|
|
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg)
|
rs2051754918
|
|
NM_016373.4(WWOX):c.109C>G (p.His37Asp)
|
rs770653451
|
|
NM_016373.4(WWOX):c.10C>G (p.Leu4Val)
|
rs751733610
|
|
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)
|
|
|
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp)
|
rs780816542
|
|
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)
|
|
|
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg)
|
rs587777127
|
|
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)
|
rs1064793798
|
|
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg)
|
rs1400576596
|
|
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val)
|
rs769877812
|
|
NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)
|
|
|
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys)
|
rs377129275
|
|
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys)
|
rs2051758116
|
|
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys)
|
rs201088847
|
|
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser)
|
rs200461412
|
|
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro)
|
rs202002431
|
|
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu)
|
rs202002431
|
|
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr)
|
rs1567625134
|
|
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg)
|
rs2051759512
|
|
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)
|
|
|
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu)
|
rs1351213477
|
|
NM_016373.4(WWOX):c.115GAG[1] (p.Glu40del)
|
rs1301923654
|
|
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro)
|
rs1060502729
|
|
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)
|
rs1484856529
|
|
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg)
|
rs372635911
|
|
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg)
|
rs372635911
|
|
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys)
|
rs375757102
|
|
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln)
|
rs375757102
|
|
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val)
|
rs1287638259
|
|
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp)
|
rs763482100
|
|
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)
|
|
|
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs)
|
rs1064792969
|
|
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr)
|
rs767286260
|
|
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly)
|
rs750042007
|
|
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)
|
|
|
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys)
|
rs200839945
|
|
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln)
|
rs200839945
|
|
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu)
|
rs1197462916
|
|
NM_016373.4(WWOX):c.1218A>C (p.Gln406His)
|
rs767985798
|
|
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser)
|
|
|
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly)
|
rs144234059
|
|
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)
|
rs765857107
|
|
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu)
|
rs765857107
|
|
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del)
|
rs770788315
|
|
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)
|
|
|
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys)
|
rs117065412
|
|
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del)
|
rs2051765287
|
|
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)
|
|
|
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser)
|
rs2150868322
|
|
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)
|
|
|
NM_016373.4(WWOX):c.128A>G (p.Gln43Arg)
|
rs754384834
|
|
NM_016373.4(WWOX):c.146C>G (p.Thr49Ser)
|
|
|
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg)
|
rs2032292763
|
|
NM_016373.4(WWOX):c.15C>G (p.Arg5=)
|
rs2031625331
|
|
NM_016373.4(WWOX):c.164T>G (p.Val55Gly)
|
rs775944673
|
|
NM_016373.4(WWOX):c.173A>G (p.Asp58Gly)
|
rs2032380473
|
|
NM_016373.4(WWOX):c.184G>C (p.Gly62Arg)
|
rs775696083
|
|
NM_016373.4(WWOX):c.200C>G (p.Thr67Ser)
|
rs752003995
|
|
NM_016373.4(WWOX):c.202G>T (p.Asp68Tyr)
|
rs2032382985
|
|
NM_016373.4(WWOX):c.203A>G (p.Asp68Gly)
|
rs1567575033
|
|
NM_016373.4(WWOX):c.230+3A>T
|
rs746149234
|
|
NM_016373.4(WWOX):c.230+6T>C
|
|
|
NM_016373.4(WWOX):c.230A>G (p.Asp77Gly)
|
rs2032385595
|
|
NM_016373.4(WWOX):c.231-5G>A
|
|
|
NM_016373.4(WWOX):c.233A>G (p.His78Arg)
|
rs375002918
|
|
NM_016373.4(WWOX):c.248C>T (p.Thr83Ile)
|
rs751493396
|
|
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp)
|
rs781063964
|
|
NM_016373.4(WWOX):c.261C>G (p.Asp87Glu)
|
rs368902462
|
|
NM_016373.4(WWOX):c.262C>A (p.Pro88Thr)
|
|
|
NM_016373.4(WWOX):c.263C>G (p.Pro88Arg)
|
rs200371768
|
|
NM_016373.4(WWOX):c.266G>A (p.Arg89Lys)
|
rs2151674621
|
|
NM_016373.4(WWOX):c.272C>T (p.Ala91Val)
|
|
|
NM_016373.4(WWOX):c.287A>T (p.Asp96Val)
|
rs776969977
|
|
NM_016373.4(WWOX):c.301C>T (p.Pro101Ser)
|
rs574637594
|
|
NM_016373.4(WWOX):c.305C>T (p.Thr102Ile)
|
rs2032705453
|
|
NM_016373.4(WWOX):c.310C>T (p.Arg104Trp)
|
rs750226191
|
|
NM_016373.4(WWOX):c.319T>G (p.Tyr107Asp)
|
rs2151674746
|
|
NM_016373.4(WWOX):c.324C>A (p.Asp108Glu)
|
rs377442022
|
|
NM_016373.4(WWOX):c.32A>T (p.Asp11Val)
|
rs1597189624
|
|
NM_016373.4(WWOX):c.332C>T (p.Thr111Ile)
|
rs114755364
|
|
NM_016373.4(WWOX):c.340A>G (p.Met114Val)
|
rs1402250109
|
|
NM_016373.4(WWOX):c.341T>C (p.Met114Thr)
|
rs761906386
|
|
NM_016373.4(WWOX):c.349C>A (p.Leu117Ile)
|
rs1397160477
|
|
NM_016373.4(WWOX):c.353A>G (p.Gln118Arg)
|
rs752982374
|
|
NM_016373.4(WWOX):c.359G>A (p.Arg120Gln)
|
rs1355355411
|
|
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)
|
rs1567567249
|
|
NM_016373.4(WWOX):c.362A>G (p.Asp121Gly)
|
rs576113059
|
|
NM_016373.4(WWOX):c.368C>T (p.Thr123Ile)
|
rs2151674876
|
|
NM_016373.4(WWOX):c.374A>G (p.Lys125Arg)
|
|
|
NM_016373.4(WWOX):c.376G>C (p.Val126Leu)
|
rs2151674893
|
|
NM_016373.4(WWOX):c.389C>G (p.Thr130Ser)
|
|
|
NM_016373.4(WWOX):c.391G>A (p.Gly131Arg)
|
rs2151674915
|
|
NM_016373.4(WWOX):c.397A>T (p.Asn133Tyr)
|
|
|
NM_016373.4(WWOX):c.408A>G (p.Ile136Met)
|
|
|
NM_016373.4(WWOX):c.409+4G>A
|
rs2032715333
|
|
NM_016373.4(WWOX):c.409+6C>T
|
|
|
NM_016373.4(WWOX):c.410-6C>G
|
rs1488901499
|
|
NM_016373.4(WWOX):c.410G>C (p.Gly137Ala)
|
rs761879076
|
|
NM_016373.4(WWOX):c.415G>C (p.Glu139Gln)
|
rs764089824
|
|
NM_016373.4(WWOX):c.422C>T (p.Ala141Val)
|
rs990349398
|
|
NM_016373.4(WWOX):c.440A>C (p.His147Pro)
|
rs188859796
|
|
NM_016373.4(WWOX):c.446C>G (p.Ala149Gly)
|
rs1024835941
|
|
NM_016373.4(WWOX):c.446C>T (p.Ala149Val)
|
rs1024835941
|
|
NM_016373.4(WWOX):c.449A>T (p.His150Leu)
|
|
|
NM_016373.4(WWOX):c.454A>G (p.Ile152Val)
|
rs961514796
|
|
NM_016373.4(WWOX):c.45G>T (p.Glu15Asp)
|
rs770319919
|
|
NM_016373.4(WWOX):c.490G>A (p.Ala164Thr)
|
rs2034896161
|
|
NM_016373.4(WWOX):c.513A>G (p.Glu171=)
|
rs1060502728
|
|
NM_016373.4(WWOX):c.516+6_516+7inv
|
|
|
NM_016373.4(WWOX):c.517-108226G>T
|
rs1057518676
|
|
NM_016373.4(WWOX):c.520A>G (p.Lys174Glu)
|
rs766451936
|
|
NM_016373.4(WWOX):c.52C>A (p.Leu18Met)
|
rs776553279
|
|
NM_016373.4(WWOX):c.52C>G (p.Leu18Val)
|
rs776553279
|
|
NM_016373.4(WWOX):c.530T>C (p.Val177Ala)
|
rs2151934103
|
|
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)
|
rs11545029
|
|
NM_016373.4(WWOX):c.545T>C (p.Leu182Pro)
|
rs2082072058
|
|
NM_016373.4(WWOX):c.550C>T (p.Leu184Phe)
|
rs753965511
|
|
NM_016373.4(WWOX):c.554C>T (p.Ala185Val)
|
|
|
NM_016373.4(WWOX):c.556C>G (p.Leu186Val)
|
rs772539448
|
|
NM_016373.4(WWOX):c.560T>A (p.Leu187His)
|
rs2151934150
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys)
|
rs199511589
|
|
NM_016373.4(WWOX):c.568G>C (p.Val190Leu)
|
|
|
NM_016373.4(WWOX):c.568G>T (p.Val190Leu)
|
rs769400934
|
|
NM_016373.4(WWOX):c.584A>C (p.Glu195Ala)
|
rs2151934166
|
|
NM_016373.4(WWOX):c.587C>T (p.Ala196Val)
|
rs754102799
|
|
NM_016373.4(WWOX):c.592A>G (p.Lys198Glu)
|
rs1199254958
|
|
NM_016373.4(WWOX):c.596C>G (p.Ala199Gly)
|
rs890212192
|
|
NM_016373.4(WWOX):c.59C>G (p.Pro20Arg)
|
rs761638116
|
|
NM_016373.4(WWOX):c.604G>A (p.Val202Met)
|
|
|
NM_016373.4(WWOX):c.605+6_605+18del
|
rs775621555
|
|
NM_016373.4(WWOX):c.606G>C (p.Val202=)
|
rs1232120355
|
|
NM_016373.4(WWOX):c.610C>A (p.Leu204Ile)
|
rs866341813
|
|
NM_016373.4(WWOX):c.614A>G (p.His205Arg)
|
rs770649734
|
|
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser)
|
rs767929766
|
|
NM_016373.4(WWOX):c.638C>A (p.Thr213Asn)
|
rs753602303
|
|
NM_016373.4(WWOX):c.640T>G (p.Phe214Val)
|
|
|
NM_016373.4(WWOX):c.641T>A (p.Phe214Tyr)
|
rs1474238209
|
|
NM_016373.4(WWOX):c.650C>G (p.Pro217Arg)
|
rs777579075
|
|
NM_016373.4(WWOX):c.650C>T (p.Pro217Leu)
|
|
|
NM_016373.4(WWOX):c.658C>T (p.Leu220Phe)
|
|
|
NM_016373.4(WWOX):c.668A>T (p.Asp223Val)
|
rs1392246150
|
|
NM_016373.4(WWOX):c.66G>T (p.Trp22Cys)
|
rs1231403909
|
|
NM_016373.4(WWOX):c.682A>C (p.Thr228Pro)
|
rs1567565338
|
|
NM_016373.4(WWOX):c.683C>G (p.Thr228Ser)
|
rs761250135
|
|
NM_016373.4(WWOX):c.683C>T (p.Thr228Ile)
|
rs761250135
|
|
NM_016373.4(WWOX):c.688C>G (p.Gln230Glu)
|
rs1057524749
|
|
NM_016373.4(WWOX):c.702G>A (p.Leu234=)
|
rs2151959991
|
|
NM_016373.4(WWOX):c.711C>A (p.Phe237Leu)
|
rs769589145
|
|
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu)
|
rs769589145
|
|
NM_016373.4(WWOX):c.736G>A (p.Val246Ile)
|
rs1262275069
|
|
NM_016373.4(WWOX):c.745C>A (p.Arg249Ser)
|
rs749277249
|
|
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys)
|
rs749277249
|
|
NM_016373.4(WWOX):c.757G>T (p.Ala253Ser)
|
rs896783193
|
|
NM_016373.4(WWOX):c.758C>G (p.Ala253Gly)
|
rs771068553
|
|
NM_016373.4(WWOX):c.761G>A (p.Arg254His)
|
|
|
NM_016373.4(WWOX):c.764T>C (p.Val255Ala)
|
|
|
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe)
|
rs1023419687
|
|
NM_016373.4(WWOX):c.767T>C (p.Ile256Thr)
|
rs775895501
|
|
NM_016373.4(WWOX):c.779C>T (p.Ser260Leu)
|
|
|
NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del)
|
rs763124571
|
|
NM_016373.4(WWOX):c.782A>G (p.Glu261Gly)
|
rs1464495960
|
|
NM_016373.4(WWOX):c.790C>G (p.Arg264Gly)
|
rs756762196
|
|
NM_016373.4(WWOX):c.791+4G>C
|
|
|
NM_016373.4(WWOX):c.791G>A (p.Arg264Gln)
|
|
|
NM_016373.4(WWOX):c.792A>G (p.Arg264=)
|
|
|
NM_016373.4(WWOX):c.793T>A (p.Phe265Ile)
|
rs2083245410
|
|
NM_016373.4(WWOX):c.7G>A (p.Ala3Thr)
|
rs1336300148
|
|
NM_016373.4(WWOX):c.7G>T (p.Ala3Ser)
|
rs1336300148
|
|
NM_016373.4(WWOX):c.800A>G (p.Asp267Gly)
|
|
|
NM_016373.4(WWOX):c.803T>A (p.Ile268Asn)
|
|
|
NM_016373.4(WWOX):c.827A>C (p.Asp276Ala)
|
rs2083246915
|
|
NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)
|
|
|
NM_016373.4(WWOX):c.833G>A (p.Ser278Asn)
|
|
|
NM_016373.4(WWOX):c.838C>G (p.Leu280Val)
|
|
|
NM_016373.4(WWOX):c.842C>T (p.Ser281Phe)
|
rs1567570252
|
|
NM_016373.4(WWOX):c.845C>A (p.Pro282Gln)
|
|
|
NM_016373.4(WWOX):c.845C>T (p.Pro282Leu)
|
rs770542796
|
|
NM_016373.4(WWOX):c.847A>G (p.Thr283Ala)
|
rs1037290766
|
|
NM_016373.4(WWOX):c.847A>T (p.Thr283Ser)
|
|
|
NM_016373.4(WWOX):c.856G>C (p.Asp286His)
|
rs374658336
|
|
NM_016373.4(WWOX):c.856G>T (p.Asp286Tyr)
|
rs374658336
|
|
NM_016373.4(WWOX):c.869T>C (p.Met290Thr)
|
rs1035627222
|
|
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro)
|
rs119487098
|
|
NM_016373.4(WWOX):c.874G>C (p.Ala292Pro)
|
rs376560613
|
|
NM_016373.4(WWOX):c.874G>T (p.Ala292Ser)
|
rs376560613
|
|
NM_016373.4(WWOX):c.882C>G (p.Asn294Lys)
|
rs2151386030
|
|
NM_016373.4(WWOX):c.884G>C (p.Arg295Thr)
|
|
|
NM_016373.4(WWOX):c.892C>G (p.Leu298Val)
|
|
|
NM_016373.4(WWOX):c.899A>G (p.Asn300Ser)
|
rs1860301714
|
|
NM_016373.4(WWOX):c.8C>T (p.Ala3Val)
|
rs1241157001
|
|
NM_016373.4(WWOX):c.903C>G (p.Ile301Met)
|
rs758799029
|
|
NM_016373.4(WWOX):c.904C>T (p.Leu302Phe)
|
rs757597956
|
|
NM_016373.4(WWOX):c.915C>A (p.Asn305Lys)
|
rs201818301
|
|
NM_016373.4(WWOX):c.923A>G (p.His308Arg)
|
rs2151386107
|
|
NM_016373.4(WWOX):c.924C>G (p.His308Gln)
|
rs774296956
|
|
NM_016373.4(WWOX):c.931C>T (p.Leu311Phe)
|
rs1455737775
|
|
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe)
|
rs79399971
|
|
NM_016373.4(WWOX):c.938C>G (p.Pro313Arg)
|
|
|
NM_016373.4(WWOX):c.941G>C (p.Arg314Pro)
|
rs73572838
|
|
NM_016373.4(WWOX):c.943G>A (p.Gly315Arg)
|
rs768172617
|
|
NM_016373.4(WWOX):c.943G>C (p.Gly315Arg)
|
rs768172617
|
|
NM_016373.4(WWOX):c.943G>T (p.Gly315Trp)
|
rs768172617
|
|
NM_016373.4(WWOX):c.94G>A (p.Val32Ile)
|
rs2031635728
|
|
NM_016373.4(WWOX):c.961G>C (p.Val321Leu)
|
rs2081146962
|
|
NM_016373.4(WWOX):c.965A>G (p.His322Arg)
|
rs878855022
|
|
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg)
|
rs1567570468
|
|
NM_016373.4(WWOX):c.978G>C (p.Met326Ile)
|
rs748074874
|
|
NM_016373.4(WWOX):c.978G>T (p.Met326Ile)
|
rs748074874
|
|
NM_016373.4(WWOX):c.980T>G (p.Met327Arg)
|
rs1567570484
|
|
NM_016373.4(WWOX):c.993T>G (p.Ile331Met)
|
|
|
NM_016373.4(WWOX):c.994C>G (p.His332Asp)
|
|
|
NM_016373.4(WWOX):c.994C>T (p.His332Tyr)
|
rs923399366
|
|
NM_016464.5(TMEM138):c.*407G>C
|
rs886048410
|
|
NM_016464.5(TMEM138):c.129-19C>G
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.129-3C>T
|
|
|
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly)
|
rs1858060748
|
|
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
|
|
|
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
|
|
|
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu)
|
rs1858140604
|
|
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
|
|
|
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln)
|
rs2135158062
|
|
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe)
|
rs1858141854
|
|
NM_016464.5(TMEM138):c.227A>G (p.His76Arg)
|
rs1411782602
|
|
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
|
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys)
|
rs2135158354
|
|
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
|
|
|
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu)
|
rs2135163033
|
|
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile)
|
rs932618021
|
|
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
|
|
|
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
|
|
|
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr)
|
rs1350244778
|
|
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val)
|
rs1045760713
|
|
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser)
|
rs1349854928
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)
|
rs141029883
|
|
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
|
|
|
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu)
|
rs2135165565
|
|
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
|
|
|
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
|
|
|
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs)
|
rs890070939
|
|
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
|
|
|
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
|
|
|
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter)
|
rs1000923142
|
|
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys)
|
rs1565076874
|
|
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
|
|
|
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
|
|
|
NM_016529.6(ATP8A2):c.-1016T>A
|
|
|
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val)
|
rs2039065206
|
|
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
|
|
|
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
|
|
|
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
|
|
|
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
|
|
|
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro)
|
rs764092726
|
|
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His)
|
rs796952533
|
|
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
|
|
|
NM_016529.6(ATP8A2):c.3273-3C>G
|
rs748588986
|
|
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys)
|
rs200449118
|
|
NM_017651.4(AHI1):c.-277G>A
|
rs886061113
|
|
NM_017651.4(AHI1):c.-284G>A
|
rs886061114
|
|
NM_017651.4(AHI1):c.-286C>G
|
rs533416517
|
|
NM_017777.3(MKS1):c.-34_-12del
|
rs1244307754
|
|
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)
|
rs1555598065
|
|
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
|
|
|
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)
|
rs1555597302
|
|
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)
|
rs1555597266
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT
|
rs1555597194
|
|
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
|
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1544G>A (p.Arg515His)
|
rs200658872
|
|
NM_017777.4(MKS1):c.1614del (p.Met539fs)
|
rs1555596555
|
|
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)
|
rs1555596538
|
|
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)
|
rs786204222
|
|
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
|
|
|
NM_017777.4(MKS1):c.418-79G>T
|
|
|
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
|
rs201237547
|
|
NM_017777.4(MKS1):c.811C>A (p.His271Asn)
|
rs201771125
|
|
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)
|
rs780100856
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)
|
rs1393510784
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|
NM_017791.3(FLVCR2):c.*1003G>A
|
rs549464206
|
|
NM_017791.3(FLVCR2):c.*1322G>A
|
rs1566800405
|
|
NM_017791.3(FLVCR2):c.*1613C>T
|
rs1890460668
|
|
NM_017791.3(FLVCR2):c.*379T>C
|
rs886050789
|
|
NM_017791.3(FLVCR2):c.*513A>G
|
rs1890435742
|
|
NM_017791.3(FLVCR2):c.*517C>T
|
rs188459017
|
|
NM_017791.3(FLVCR2):c.*644G>A
|
rs1890438951
|
|
NM_017791.3(FLVCR2):c.*856T>C
|
rs1890443552
|
|
NM_017791.3(FLVCR2):c.*98T>C
|
rs886050788
|
|
NM_017791.3(FLVCR2):c.1326C>T (p.Leu442=)
|
rs886050787
|
|
NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu)
|
rs1566799791
|
|
NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys)
|
rs1566799795
|
|
NM_017791.3(FLVCR2):c.360C>G (p.Ala120=)
|
rs906645811
|
|
NM_017791.3(FLVCR2):c.669+8G>C
|
rs769337002
|
|
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)
|
rs757778790
|
|
NM_018012.4(KIF26B):c.1340G>A (p.Gly447Glu)
|
rs2103102844
|
|
NM_018012.4(KIF26B):c.2023G>C (p.Asp675His)
|
rs752143373
|
|
NM_018075.5(ANO10):c.*165G>A
|
rs951493321
|
|
NM_018075.5(ANO10):c.*438A>T
|
rs376644560
|
|
NM_018075.5(ANO10):c.*464C>T
|
rs886058475
|
|
NM_018075.5(ANO10):c.*569T>C
|
rs1044107285
|
|
NM_018075.5(ANO10):c.*74dup
|
rs556549778
|
|
NM_018075.5(ANO10):c.-95del
|
rs886058483
|
|
NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter)
|
rs144272231
|
|
NM_018075.5(ANO10):c.1218+4A>T
|
rs886058479
|
|
NM_018075.5(ANO10):c.1277T>C (p.Met426Thr)
|
rs768830099
|
|
NM_018075.5(ANO10):c.127A>G (p.Lys43Glu)
|
rs747139453
|
|
NM_018075.5(ANO10):c.1294-3del
|
rs778730043
|
|
NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)
|
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018075.5(ANO10):c.1339A>T (p.Met447Leu)
|
rs745940196
|
|
NM_018075.5(ANO10):c.1416A>C (p.Ala472=)
|
rs886058478
|
|
NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu)
|
rs886058477
|
|
NM_018075.5(ANO10):c.1683G>C (p.Thr561=)
|
rs141040660
|
|
NM_018075.5(ANO10):c.192A>G (p.Leu64=)
|
rs146432615
|
|
NM_018075.5(ANO10):c.218G>A (p.Gly73Asp)
|
rs2149481812
|
|
NM_018075.5(ANO10):c.338-11T>C
|
rs774494441
|
|
NM_018075.5(ANO10):c.616del (p.Glu206fs)
|
rs886058481
|
|
NM_018075.5(ANO10):c.857C>T (p.Pro286Leu)
|
rs375157457
|
|
NM_018075.5(ANO10):c.882C>G (p.Ile294Met)
|
rs2081034644
|
|
NM_018243.4(SEPTIN11):c.265dup (p.Glu89fs)
|
rs2109948029
|
|
NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly)
|
rs1846515941
|
|
NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)
|
|
|
NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter)
|
rs2134268636
|
|
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del)
|
rs746710766
|
|
NM_018319.3(TDP1):c.-275C>G
|
rs886050881
|
|
NM_018319.4(TDP1):c.*1099G>A
|
rs1888617977
|
|
NM_018319.4(TDP1):c.*134A>C
|
rs780471860
|
|
NM_018319.4(TDP1):c.*135T>C
|
rs1566938109
|
|
NM_018319.4(TDP1):c.*1399T>A
|
rs1888638490
|
|
NM_018319.4(TDP1):c.*1511C>G
|
rs1596750474
|
|
NM_018319.4(TDP1):c.-242T>G
|
rs533696578
|
|
NM_018319.4(TDP1):c.-243C>T
|
rs886873955
|
|
NM_018319.4(TDP1):c.-264G>A
|
rs1891509764
|
|
NM_018319.4(TDP1):c.-55C>G
|
rs751280891
|
|
NM_018319.4(TDP1):c.-76T>C
|
rs886050883
|
|
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe)
|
rs892739281
|
|
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe)
|
rs138711165
|
|
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter)
|
rs772318046
|
|
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly)
|
rs906821798
|
|
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp)
|
rs151271332
|
|
NM_018718.3(CEP41):c.*1191G>A
|
rs781848072
|
|
NM_018718.3(CEP41):c.*1768G>T
|
rs552499760
|
|
NM_018718.3(CEP41):c.*2194C>T
|
rs886061994
|
|
NM_018718.3(CEP41):c.*2196T>C
|
rs574519929
|
|
NM_018718.3(CEP41):c.*2386A>G
|
rs886061993
|
|
NM_018718.3(CEP41):c.*2725C>T
|
rs1796651983
|
|
NM_018718.3(CEP41):c.*287C>T
|
rs1796743356
|
|
NM_018718.3(CEP41):c.*3069T>C
|
rs886061990
|
|
NM_018718.3(CEP41):c.*3708A>T
|
rs576298616
|
|
NM_018718.3(CEP41):c.*4343C>G
|
rs1554413758
|
|
NM_018718.3(CEP41):c.*4365G>A
|
rs535299613
|
|
NM_018718.3(CEP41):c.*4539C>T
|
rs1796601439
|
|
NM_018718.3(CEP41):c.*4659C>G
|
rs886061986
|
|
NM_018718.3(CEP41):c.*4866C>T
|
rs782719539
|
|
NM_018718.3(CEP41):c.-41C>T
|
rs886062002
|
|
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
|
|
|
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
|
rs1554416156
|
|
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
|
rs184146463
|
|
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
|
rs184146463
|
|
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
|
|
|
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
|
|
|
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)
|
rs2117546322
|
|
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
|
|
|
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)
|
rs781878740
|
|
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
|
|
|
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
|
rs1796754986
|
|
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
|
|
|
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser)
|
rs782211413
|
|
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
|
rs1797355895
|
|
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
|
|
|
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
|
|
|
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg)
|
rs1797203213
|
|
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
|
|
|
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
|
|
|
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
|
rs1797171250
|
|
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
|
rs1797171055
|
|
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
|
|
|
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter)
|
rs1562984087
|
|
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro)
|
rs946180222
|
|
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
|
|
|
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
|
rs1797169504
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
|
|
|
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys)
|
rs2117574982
|
|
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
|
rs149373377
|
|
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
|
rs149373377
|
|
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn)
|
rs150251054
|
|
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
|
|
|
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
|
|
|
NM_018718.3(CEP41):c.320C>T (p.Ala107Val)
|
rs141025803
|
|
NM_018718.3(CEP41):c.33+6G>A
|
rs1798137622
|
|
NM_018718.3(CEP41):c.33G>A (p.Glu11=)
|
rs2117739865
|
|
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg)
|
rs782235279
|
|
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
|
|
|
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr)
|
rs782508627
|
|
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
|
|
|
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln)
|
rs782614895
|
|
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
|
|
|
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
|
rs782436531
|
|
NM_018718.3(CEP41):c.422+5T>C
|
|
|
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
|
|
|
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn)
|
rs782614635
|
|
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
|
rs1797714880
|
|
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
|
rs1170058733
|
|
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg)
|
rs1554417299
|
|
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile)
|
rs2117565108
|
|
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser)
|
rs1796890244
|
|
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
|
|
|
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
|
|
|
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
|
rs782587361
|
|
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
|
|
|
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
|
rs201818904
|
|
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
|
|
|
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala)
|
rs1796855782
|
|
NM_018718.3(CEP41):c.610A>G (p.Met204Val)
|
rs782188831
|
|
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
|
rs1796853863
|
|
NM_018718.3(CEP41):c.642+5C>T
|
rs2117560304
|
|
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
|
rs1796853773
|
|
NM_018718.3(CEP41):c.643-9del
|
|
|
NM_018718.3(CEP41):c.653A>G (p.His218Arg)
|
rs527896814
|
|
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg)
|
rs1472855500
|
|
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
|
|
|
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
|
|
|
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
|
rs1796819026
|
|
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr)
|
rs2117555473
|
|
NM_018718.3(CEP41):c.717G>T (p.Met239Ile)
|
rs2117555395
|
|
NM_018718.3(CEP41):c.757+5G>A
|
rs909436822
|
|
NM_018718.3(CEP41):c.769T>G (p.Leu257Val)
|
rs2117552967
|
|
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
|
rs1050700461
|
|
NM_018718.3(CEP41):c.798T>G (p.Ile266Met)
|
rs2117552869
|
|
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)
|
rs2117552856
|
|
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser)
|
rs2117552201
|
|
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
|
rs1308536722
|
|
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)
|
rs782610112
|
|
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro)
|
rs2117551648
|
|
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
|
|
|
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
|
|
|
NM_018718.3(CEP41):c.973+404_1077del
|
rs1796755672
|
|
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
|
rs782387467
|
|
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
|
rs782387467
|
|
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
|
|
|
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
|
rs1796760925
|
|
NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser)
|
rs1598151147
|
|
NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu)
|
|
|
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala)
|
rs2040529103
|
|
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.2614C>A (p.Leu872Ile)
|
|
|
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu)
|
rs536992411
|
|
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.3601G>A (p.Gly1201Ser)
|
rs1450096310
|
|
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.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.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.5705A>C (p.Asp1902Ala)
|
|
|
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro)
|
rs1312607495
|
|
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
|
|
|
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.7088T>C (p.Leu2363Pro)
|
rs2053882218
|
|
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)
|
|
|
NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys)
|
|
|
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)
|
rs1558337060
|
|
NM_020247.5(COQ8A):c.*252A>C
|
rs886046070
|
|
NM_020247.5(COQ8A):c.*326C>G
|
rs886046071
|
|
NM_020247.5(COQ8A):c.*401A>G
|
rs1660167809
|
|
NM_020247.5(COQ8A):c.*497C>T
|
rs1660172039
|
|
NM_020247.5(COQ8A):c.*693G>T
|
rs886046074
|
|
NM_020247.5(COQ8A):c.*759T>C
|
rs1017095829
|
|
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys)
|
rs536852535
|
|
NM_020247.5(COQ8A):c.1163-10C>T
|
rs886046067
|
|
NM_020247.5(COQ8A):c.1256+11C>G
|
rs564593360
|
|
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His)
|
rs2148132744
|
|
NM_020247.5(COQ8A):c.1398+12C>A
|
rs774158999
|
|
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg)
|
rs1278938202
|
|
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1])
|
rs1660021291
|
|
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser)
|
rs886046068
|
|
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)
|
rs886046069
|
|
NM_020247.5(COQ8A):c.1800C>T (p.Val600=)
|
rs74589348
|
|
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg)
|
rs61995958
|
|
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup)
|
rs1558212011
|
|
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser)
|
rs778948697
|
|
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)
|
rs760566419
|
|
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys)
|
rs181579601
|
|
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
|
|
|
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
|
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala)
|
rs886046065
|
|
NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly)
|
rs1659738579
|
|
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala)
|
rs767319743
|
|
NM_020944.3(GBA2):c.1444A>C (p.Asn482His)
|
rs1826525053
|
|
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.692G>T (p.Trp231Leu)
|
|
|
NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)
|
|
|
NM_021830.5(TWNK):c.*248G>A
|
rs1851850715
|
|
NM_021830.5(TWNK):c.*346A>C
|
rs1851852761
|
|
NM_021830.5(TWNK):c.*555G>A
|
rs886046635
|
|
NM_021830.5(TWNK):c.*747C>G
|
rs886046638
|
|
NM_021830.5(TWNK):c.*803A>G
|
rs886046640
|
|
NM_021830.5(TWNK):c.-105T>C
|
rs886046629
|
|
NM_021830.5(TWNK):c.-304G>A
|
rs200599543
|
|
NM_021830.5(TWNK):c.-423C>T
|
rs886046627
|
|
NM_021830.5(TWNK):c.-584G>C
|
rs1564806518
|
|
NM_021830.5(TWNK):c.-585T>G
|
rs886046624
|
|
NM_021830.5(TWNK):c.-622C>T
|
rs993449080
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_021830.5(TWNK):c.1287C>T (p.Ala429=)
|
rs80356541
|
|
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
|
rs1274226715
|
|
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
|
rs1426435572
|
|
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser)
|
rs1851842282
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser)
|
rs886046630
|
|
NM_021830.5(TWNK):c.276C>T (p.Gly92=)
|
rs886046631
|
|
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
|
rs1564807938
|
|
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)
|
rs772221026
|
|
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
|
rs764669712
|
|
NM_022114.4(PRDM16):c.439-11715_439-4716del
|
|
|
NM_022464.5(SIL1):c.*105C>T
|
|
|
NM_022464.5(SIL1):c.*265C>G
|
|
|
NM_022464.5(SIL1):c.*30C>T
|
|
|
NM_022464.5(SIL1):c.*349T>C
|
|
|
NM_022464.5(SIL1):c.*68del
|
|
|
NM_022464.5(SIL1):c.*80G>C
|
|
|
NM_022464.5(SIL1):c.-10-18951A>G
|
|
|
NM_022464.5(SIL1):c.-106G>C
|
|
|
NM_022464.5(SIL1):c.-1T>C
|
|
|
NM_022464.5(SIL1):c.-29C>G
|
|
|
NM_022464.5(SIL1):c.-92T>A
|
|
|
NM_022464.5(SIL1):c.-98C>T
|
|
|
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
|
|
|
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
|
|
|
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
|
|
|
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
|
|
|
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
|
rs769587333
|
|
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
|
|
|
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
|
|
|
NM_022464.5(SIL1):c.1030-18G>A
|
|
|
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
|
|
|
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)
|
rs377150029
|
|
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
|
|
|
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
|
|
|
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
|
|
|
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
|
|
|
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
|
|
|
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
|
|
|
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
|
|
|
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg)
|
rs1021273983
|
|
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
|
|
|
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
|
|
|
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
|
|
|
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
|
|
|
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
|
|
|
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
|
|
|
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
|
|
|
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
|
|
|
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
|
|
|
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
|
|
|
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
|
|
|
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
|
|
|
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
|
|
|
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
|
|
|
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)
|
rs398124389
|
|
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
|
|
|
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
|
|
|
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
|
|
|
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
|
|
|
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
|
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
|
|
|
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
|
|
|
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
|
|
|
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
|
|
|
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
|
|
|
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
|
|
|
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
|
|
|
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
|
|
|
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
|
|
|
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
|
|
|
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
NM_022464.5(SIL1):c.1A>G (p.Met1Val)
|
rs573588795
|
|
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
|
|
|
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
|
|
|
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
|
|
|
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
|
|
|
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
|
|
|
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
|
|
|
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
|
|
|
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
|
|
|
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
|
|
|
NM_022464.5(SIL1):c.354-3C>A
|
|
|
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
|
|
|
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
|
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
|
|
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
|
|
|
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
|
|
|
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
|
|
|
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
|
|
|
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
|
|
|
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
|
|
|
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
|
|
|
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
|
|
|
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
|
|
|
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
|
|
|
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
|
|
|
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
|
|
|
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
|
|
|
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
|
|
|
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
|
|
|
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
|
|
|
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
|
|
|
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
|
|
|
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
|
|
|
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
|
|
|
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
|
|
|
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
|
|
|
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
|
|
|
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
|
|
|
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
|
|
|
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
|
|
|
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
|
|
|
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
|
|
|
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
|
|
|
NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
|
|
|
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
|
|
|
NM_022464.5(SIL1):c.836C>T (p.Thr279Met)
|
rs535287958
|
|
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
|
|
|
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
|
|
|
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
|
|
|
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
|
|
|
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
|
|
|
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
|
|
|
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
|
|
|
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
|
|
|
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
|
|
|
NM_022464.5(SIL1):c.988G>A (p.Val330Met)
|
|
|
NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val)
|
rs1774342487
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
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>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.-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.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_024790.6(CSPP1):c.-14_1del (p.Met1del)
|
|
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
|
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe)
|
rs1264332374
|
|
NM_025114.4(CEP290):c.1623+10G>A
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)
|
rs1193394531
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
NM_025114.4(CEP290):c.2483+5A>G
|
rs2137661741
|
|
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)
|
rs1443848622
|
|
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)
|
rs1039332206
|
|
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)
|
rs898733071
|
|
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
|
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)
|
rs2137303851
|
|
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)
|
rs1466311097
|
|
NM_025114.4(CEP290):c.3574-9T>A
|
rs202038547
|
|
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
|
rs2036852568
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met)
|
rs375065584
|
|
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala)
|
rs2040372439
|
|
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)
|
rs2137270029
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His)
|
rs184143186
|
|
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
|
rs1157241942
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
|
|
|
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)
|
rs1173154577
|
|
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp)
|
rs886049880
|
|
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly)
|
rs886049879
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.54G>A (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.54G>C (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.5587-8T>C
|
rs886049878
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
|
rs764861728
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)
|
rs2034578914
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)
|
rs2034330893
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)
|
rs768777116
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
|
|
|
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
|
|
|
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys)
|
rs376622127
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
|
|
|
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu)
|
rs2141836997
|
|
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
|
|
|
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
|
|
|
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
|
|
|
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
|
|
|
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp)
|
rs1261931467
|
|
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
|
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3])
|
rs11267906
|
|
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter)
|
rs201608269
|
|
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del)
|
rs750338466
|
|
NM_033064.4(ATCAY):c.-375G>T
|
rs886054373
|
|
NM_033064.5(ATCAY):c.*1051T>C
|
rs1599152069
|
|
NM_033064.5(ATCAY):c.*1188G>T
|
rs886054420
|
|
NM_033064.5(ATCAY):c.*1322T>G
|
rs960684972
|
|
NM_033064.5(ATCAY):c.*143G>A
|
rs537298270
|
|
NM_033064.5(ATCAY):c.*1660T>G
|
rs1463951003
|
|
NM_033064.5(ATCAY):c.*192_*193del
|
rs796133913
|
|
NM_033064.5(ATCAY):c.*1978G>A
|
rs918032296
|
|
NM_033064.5(ATCAY):c.*2297C>A
|
rs886054424
|
|
NM_033064.5(ATCAY):c.*2357G>C
|
rs551091925
|
|
NM_033064.5(ATCAY):c.*2426C>T
|
rs886054426
|
|
NM_033064.5(ATCAY):c.*266C>T
|
rs867087852
|
|
NM_033064.5(ATCAY):c.*3202G>A
|
rs1293185068
|
|
NM_033064.5(ATCAY):c.*3319C>T
|
rs2039082103
|
|
NM_033064.5(ATCAY):c.*391C>A
|
rs765579267
|
|
NM_033064.5(ATCAY):c.*391C>T
|
rs765579267
|
|
NM_033064.5(ATCAY):c.*430G>T
|
rs866573378
|
|
NM_033064.5(ATCAY):c.*441G>A
|
rs117035326
|
|
NM_033064.5(ATCAY):c.*496C>A
|
rs886054417
|
|
NM_033064.5(ATCAY):c.*599T>C
|
rs571828838
|
|
NM_033064.5(ATCAY):c.*608G>C
|
rs926357788
|
|
NM_033064.5(ATCAY):c.*813G>C
|
rs886054418
|
|
NM_033064.5(ATCAY):c.-41-1022G>A
|
|
|
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
|
|
|
NM_033064.5(ATCAY):c.162C>T (p.Asn54=)
|
rs373392142
|
|
NM_033064.5(ATCAY):c.544+16dup
|
rs140914543
|
|
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
|
|
|
NM_033064.5(ATCAY):c.555C>A (p.Gly185=)
|
rs367736161
|
|
NM_033064.5(ATCAY):c.647+15G>A
|
rs117167523
|
|
NM_033064.5(ATCAY):c.647+15G>C
|
rs117167523
|
|
NM_033064.5(ATCAY):c.678G>A (p.Val226=)
|
rs886054415
|
|
NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp)
|
rs2038904766
|
|
NM_033071.3(SYNE1):c.17995_17997delGAG
|
|
|
NM_033071.3(SYNE1):c.21832-2dup
|
rs35128811
|
|
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)
|
rs1575477812
|
|
NM_144992.5(VWA3B):c.2951A>C (p.Glu984Ala)
|
|
|
NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg)
|
rs779799210
|
|
NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)
|
|
|
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.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
|
|
|
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
|
|
|
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
|
|
|
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer)
|
rs751867784
|
|
NM_152617.4(RNF168):c.496A>G (p.Arg166Gly)
|
rs760613076
|
|
NM_152703.5(SAMD9L):c.-779+181T>C
|
rs1792903463
|
|
NM_152703.5(SAMD9L):c.1096T>C (p.Phe366Leu)
|
|
|
NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala)
|
rs751090202
|
|
NM_152703.5(SAMD9L):c.1679T>G (p.Leu560Arg)
|
|
|
NM_152703.5(SAMD9L):c.1766G>A (p.Arg589Gln)
|
|
|
NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp)
|
rs1792278396
|
|
NM_152703.5(SAMD9L):c.227A>G (p.Asn76Ser)
|
rs1792419152
|
|
NM_152703.5(SAMD9L):c.2734C>G (p.Gln912Glu)
|
|
|
NM_152703.5(SAMD9L):c.2956C>A (p.Arg986Ser)
|
rs1554341158
|
|
NM_152703.5(SAMD9L):c.3066del (p.Phe1021_Tyr1022insTer)
|
rs2116482762
|
|
NM_152703.5(SAMD9L):c.308dup (p.Asn103fs)
|
rs758545647
|
|
NM_152703.5(SAMD9L):c.3156C>G (p.Asp1052Glu)
|
rs1792194225
|
|
NM_152703.5(SAMD9L):c.3229C>T (p.Arg1077Ter)
|
rs373868315
|
|
NM_152703.5(SAMD9L):c.3260C>T (p.Ala1087Val)
|
|
|
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys)
|
rs1562789302
|
|
NM_152703.5(SAMD9L):c.3483A>T (p.Arg1161Ser)
|
rs1477737151
|
|
NM_152703.5(SAMD9L):c.3563G>A (p.Arg1188Gln)
|
|
|
NM_152703.5(SAMD9L):c.3892C>G (p.Arg1298Gly)
|
rs368520824
|
|
NM_152703.5(SAMD9L):c.3899T>G (p.Phe1300Cys)
|
rs2116474947
|
|
NM_152703.5(SAMD9L):c.3932A>T (p.Asp1311Val)
|
|
|
NM_152703.5(SAMD9L):c.3965T>A (p.Leu1322Ter)
|
rs1584271706
|
|
NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs)
|
rs745823605
|
|
NM_152703.5(SAMD9L):c.499C>A (p.Pro167Thr)
|
|
|
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr)
|
rs1433514195
|
|
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln)
|
rs199708882
|
|
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu)
|
rs1486419446
|
|
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr)
|
rs2130780313
|
|
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val)
|
rs758638902
|
|
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg)
|
rs143495661
|
|
NM_153816.6(SNX14):c.119C>T (p.Ala40Val)
|
rs1803676386
|
|
NM_153816.6(SNX14):c.1809A>G (p.Ala603=)
|
rs1582696313
|
|
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)
|
rs936843937
|
|
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)
|
rs1064793681
|
|
NM_153816.6(SNX14):c.295C>T (p.His99Tyr)
|
rs1795901647
|
|
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn)
|
rs773557814
|
|
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr)
|
rs765192341
|
|
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.1237G>T (p.Gly413Cys)
|
rs1889967626
|
|
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)
|
rs577577749
|
|
NM_173500.4(TTBK2):c.2107G>A (p.Glu703Lys)
|
|
|
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.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.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_174936.3(PCSK9):c.-353G>T
|
rs886046425
|
|
NM_174936.4(PCSK9):c.*1154C>A
|
rs886046451
|
|
NM_174936.4(PCSK9):c.*1170_*1173dup
|
rs377553033
|
|
NM_174936.4(PCSK9):c.*1229G>T
|
rs886046453
|
|
NM_174936.4(PCSK9):c.*152G>T
|
rs886046438
|
|
NM_174936.4(PCSK9):c.*274C>A
|
rs886046439
|
|
NM_174936.4(PCSK9):c.*404G>A
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*404G>C
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*426C>A
|
rs886046441
|
|
NM_174936.4(PCSK9):c.*464C>A
|
rs886046442
|
|
NM_174936.4(PCSK9):c.*470G>A
|
rs886046443
|
|
NM_174936.4(PCSK9):c.*488C>A
|
rs886046444
|
|
NM_174936.4(PCSK9):c.*509C>A
|
rs886046445
|
|
NM_174936.4(PCSK9):c.*58A>G
|
rs886046437
|
|
NM_174936.4(PCSK9):c.*785C>A
|
rs886046448
|
|
NM_174936.4(PCSK9):c.*78C>T
|
rs757944328
|
|
NM_174936.4(PCSK9):c.*846G>T
|
rs886046449
|
|
NM_174936.4(PCSK9):c.-180T>G
|
rs886046431
|
|
NM_174936.4(PCSK9):c.-185A>G
|
rs886046430
|
|
NM_174936.4(PCSK9):c.-200C>A
|
rs886046429
|
|
NM_174936.4(PCSK9):c.-221T>G
|
rs886046428
|
|
NM_174936.4(PCSK9):c.-237T>G
|
rs886046427
|
|
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu)
|
rs886046432
|
|
NM_177438.3(DICER1):c.2458A>G (p.Thr820Ala)
|
rs1595380820
|
|
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val)
|
rs1554126530
|
|
NM_181675.4(PPP2R2B):c.737C>A (p.Thr246Lys)
|
|
|
NM_182961.4(SYNE1):c.*295T>C
|
rs886061190
|
|
NM_182961.4(SYNE1):c.*449T>A
|
rs886061188
|
|
NM_182961.4(SYNE1):c.*449T>C
|
rs886061188
|
|
NM_182961.4(SYNE1):c.*515T>C
|
rs886061187
|
|
NM_182961.4(SYNE1):c.*580del
|
rs886061186
|
|
NM_182961.4(SYNE1):c.*667del
|
rs71660056
|
|
NM_182961.4(SYNE1):c.-224+1G>A
|
|
|
NM_182961.4(SYNE1):c.-352C>T
|
rs886061220
|
|
NM_182961.4(SYNE1):c.-40A>T
|
rs2099690467
|
|
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met)
|
rs756088149
|
|
NM_182961.4(SYNE1):c.10051A>G (p.Thr3351Ala)
|
rs2097039682
|
|
NM_182961.4(SYNE1):c.10051A>T (p.Thr3351Ser)
|
rs2097039682
|
|
NM_182961.4(SYNE1):c.10078C>G (p.Gln3360Glu)
|
|
|
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val)
|
rs748579024
|
|
NM_182961.4(SYNE1):c.10132A>C (p.Ile3378Leu)
|
rs758060339
|
|
NM_182961.4(SYNE1):c.10133T>C (p.Ile3378Thr)
|
|
|
NM_182961.4(SYNE1):c.10135C>T (p.Arg3379Cys)
|
|
|
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe)
|
rs754599705
|
|
NM_182961.4(SYNE1):c.10190_10191delinsCA (p.Gly3397Ala)
|
rs2154069302
|
|
NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys)
|
rs1179568983
|
|
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val)
|
rs546645393
|
|
NM_182961.4(SYNE1):c.10223T>C (p.Met3408Thr)
|
rs1212823311
|
|
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu)
|
rs748911036
|
|
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)
|
rs145287138
|
|
NM_182961.4(SYNE1):c.10277C>T (p.Thr3426Ile)
|
rs2096943501
|
|
NM_182961.4(SYNE1):c.10280C>G (p.Thr3427Arg)
|
|
|
NM_182961.4(SYNE1):c.10283T>C (p.Met3428Thr)
|
|
|
NM_182961.4(SYNE1):c.10288G>A (p.Gly3430Arg)
|
rs1047722501
|
|
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=)
|
rs886061205
|
|
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
|
|
|
NM_182961.4(SYNE1):c.10347C>G (p.Ile3449Met)
|
rs201204269
|
|
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro)
|
rs200003096
|
|
NM_182961.4(SYNE1):c.10379A>G (p.Tyr3460Cys)
|
|
|
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly)
|
rs2096893025
|
|
NM_182961.4(SYNE1):c.10430A>G (p.Gln3477Arg)
|
|
|
NM_182961.4(SYNE1):c.10450G>A (p.Val3484Ile)
|
|
|
NM_182961.4(SYNE1):c.10469T>C (p.Leu3490Pro)
|
|
|
NM_182961.4(SYNE1):c.1047+4T>G
|
rs9397106
|
|
NM_182961.4(SYNE1):c.1048-4_1048-3del
|
rs755509246
|
|
NM_182961.4(SYNE1):c.10539A>C (p.Glu3513Asp)
|
|
|
NM_182961.4(SYNE1):c.10543C>T (p.Leu3515Phe)
|
rs1447737732
|
|
NM_182961.4(SYNE1):c.10574C>T (p.Ala3525Val)
|
|
|
NM_182961.4(SYNE1):c.1058A>C (p.His353Pro)
|
|
|
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=)
|
rs765669433
|
|
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser)
|
rs776816480
|
|
NM_182961.4(SYNE1):c.10633G>A (p.Gly3545Arg)
|
|
|
NM_182961.4(SYNE1):c.10649A>G (p.Asn3550Ser)
|
|
|
NM_182961.4(SYNE1):c.1066G>A (p.Val356Ile)
|
rs1156294695
|
|
NM_182961.4(SYNE1):c.10699G>A (p.Ala3567Thr)
|
|
|
NM_182961.4(SYNE1):c.10700C>T (p.Ala3567Val)
|
rs2154051091
|
|
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His)
|
rs779366372
|
|
NM_182961.4(SYNE1):c.10735T>C (p.Trp3579Arg)
|
|
|
NM_182961.4(SYNE1):c.10749G>C (p.Gln3583His)
|
|
|
NM_182961.4(SYNE1):c.1075G>A (p.Glu359Lys)
|
|
|
NM_182961.4(SYNE1):c.10766C>G (p.Thr3589Ser)
|
|
|
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu)
|
rs143034104
|
|
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val)
|
rs2098931426
|
|
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
|
|
|
NM_182961.4(SYNE1):c.10807A>G (p.Met3603Val)
|
|
|
NM_182961.4(SYNE1):c.10818G>C (p.Lys3606Asn)
|
|
|
NM_182961.4(SYNE1):c.10847C>T (p.Thr3616Ile)
|
|
|
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys)
|
rs1214109688
|
|
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
|
|
|
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr)
|
rs2098931353
|
|
NM_182961.4(SYNE1):c.10969G>C (p.Glu3657Gln)
|
|
|
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=)
|
rs767172575
|
|
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly)
|
rs767172575
|
|
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
|
|
|
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln)
|
rs143673038
|
|
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met)
|
rs567753957
|
|
NM_182961.4(SYNE1):c.11059C>A (p.Gln3687Lys)
|
|
|
NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)
|
|
|
NM_182961.4(SYNE1):c.11083-4A>G
|
rs764920428
|
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
|
|
NM_182961.4(SYNE1):c.11115G>C (p.Gln3705His)
|
rs2154045109
|
|
NM_182961.4(SYNE1):c.1119C>T (p.His373=)
|
rs886061217
|
|
NM_182961.4(SYNE1):c.11208C>A (p.Asp3736Glu)
|
|
|
NM_182961.4(SYNE1):c.11253+6C>A
|
rs2096773869
|
|
NM_182961.4(SYNE1):c.11284A>C (p.Ser3762Arg)
|
rs953580081
|
|
NM_182961.4(SYNE1):c.11344G>A (p.Glu3782Lys)
|
|
|
NM_182961.4(SYNE1):c.1135T>C (p.Ser379Pro)
|
|
|
NM_182961.4(SYNE1):c.11408C>T (p.Thr3803Ile)
|
rs2096753111
|
|
NM_182961.4(SYNE1):c.11414G>A (p.Arg3805Gln)
|
|
|
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu)
|
rs1207624769
|
|
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly)
|
rs2096752876
|
|
NM_182961.4(SYNE1):c.11425A>G (p.Met3809Val)
|
|
|
NM_182961.4(SYNE1):c.11463C>A (p.Phe3821Leu)
|
rs2154039505
|
|
NM_182961.4(SYNE1):c.11464T>A (p.Ser3822Thr)
|
|
|
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=)
|
rs146919170
|
|
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile)
|
rs770523249
|
|
NM_182961.4(SYNE1):c.11494A>T (p.Ile3832Leu)
|
|
|
NM_182961.4(SYNE1):c.11560G>C (p.Ala3854Pro)
|
rs776601282
|
|
NM_182961.4(SYNE1):c.11569T>C (p.Ser3857Pro)
|
|
|
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=)
|
rs1057518265
|
|
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
|
|
|
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met)
|
rs755039909
|
|
NM_182961.4(SYNE1):c.11657T>C (p.Leu3886Pro)
|
|
|
NM_182961.4(SYNE1):c.11662C>A (p.Gln3888Lys)
|
rs1590820792
|
|
NM_182961.4(SYNE1):c.11666A>G (p.Asp3889Gly)
|
|
|
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)
|
rs750372071
|
|
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly)
|
rs935958519
|
|
NM_182961.4(SYNE1):c.1171A>G (p.Arg391Gly)
|
|
|
NM_182961.4(SYNE1):c.1173A>C (p.Arg391Ser)
|
|
|
NM_182961.4(SYNE1):c.1178C>T (p.Thr393Ile)
|
|
|
NM_182961.4(SYNE1):c.11902-3C>T
|
|
|
NM_182961.4(SYNE1):c.11920G>T (p.Ala3974Ser)
|
rs2154025706
|
|
NM_182961.4(SYNE1):c.11935C>A (p.Arg3979Ser)
|
rs755560676
|
|
NM_182961.4(SYNE1):c.11936G>T (p.Arg3979Leu)
|
|
|
NM_182961.4(SYNE1):c.11999C>T (p.Ala4000Val)
|
|
|
NM_182961.4(SYNE1):c.12035G>T (p.Gly4012Val)
|
rs745342797
|
|
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu)
|
rs756840607
|
|
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val)
|
rs756840607
|
|
NM_182961.4(SYNE1):c.12059T>A (p.Ile4020Asn)
|
rs2154025477
|
|
NM_182961.4(SYNE1):c.12060C>G (p.Ile4020Met)
|
rs2096650506
|
|
NM_182961.4(SYNE1):c.12068C>G (p.Thr4023Arg)
|
|
|
NM_182961.4(SYNE1):c.12071C>T (p.Ala4024Val)
|
rs2154025456
|
|
NM_182961.4(SYNE1):c.1208T>C (p.Leu403Pro)
|
|
|
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg)
|
rs2096590726
|
|
NM_182961.4(SYNE1):c.12097C>T (p.His4033Tyr)
|
|
|
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val)
|
rs761744256
|
|
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys)
|
rs1159138676
|
|
NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)
|
|
|
NM_182961.4(SYNE1):c.12194C>G (p.Pro4065Arg)
|
|
|
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn)
|
rs1366322267
|
|
NM_182961.4(SYNE1):c.12215C>T (p.Ala4072Val)
|
|
|
NM_182961.4(SYNE1):c.12256G>A (p.Ala4086Thr)
|
|
|
NM_182961.4(SYNE1):c.12287T>A (p.Met4096Lys)
|
rs771323185
|
|
NM_182961.4(SYNE1):c.12287T>C (p.Met4096Thr)
|
rs771323185
|
|
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp)
|
rs1554492224
|
|
NM_182961.4(SYNE1):c.12349A>G (p.Thr4117Ala)
|
|
|
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met)
|
rs144274149
|
|
NM_182961.4(SYNE1):c.12371A>C (p.Gln4124Pro)
|
rs911413208
|
|
NM_182961.4(SYNE1):c.12380A>G (p.Asn4127Ser)
|
|
|
NM_182961.4(SYNE1):c.12400G>A (p.Glu4134Lys)
|
rs898572784
|
|
NM_182961.4(SYNE1):c.12446C>A (p.Ala4149Asp)
|
|
|
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met)
|
rs2096403501
|
|
NM_182961.4(SYNE1):c.12470A>G (p.Lys4157Arg)
|
|
|
NM_182961.4(SYNE1):c.12492G>T (p.Glu4164Asp)
|
rs763067012
|
|
NM_182961.4(SYNE1):c.12496A>C (p.Asn4166His)
|
rs147385939
|
|
NM_182961.4(SYNE1):c.12535_12537del (p.Val4179del)
|
rs1356327027
|
|
NM_182961.4(SYNE1):c.12552C>G (p.Ser4184Arg)
|
|
|
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
|
|
|
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn)
|
rs149536991
|
|
NM_182961.4(SYNE1):c.12598A>G (p.Thr4200Ala)
|
|
|
NM_182961.4(SYNE1):c.1259G>A (p.Arg420Lys)
|
|
|
NM_182961.4(SYNE1):c.12638A>G (p.His4213Arg)
|
rs1032510868
|
|
NM_182961.4(SYNE1):c.12647A>G (p.Asp4216Gly)
|
rs1363382711
|
|
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp)
|
rs866991892
|
|
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
|
|
|
NM_182961.4(SYNE1):c.12668G>T (p.Arg4223Leu)
|
rs140492158
|
|
NM_182961.4(SYNE1):c.12676A>C (p.Asn4226His)
|
rs2096319568
|
|
NM_182961.4(SYNE1):c.12679A>C (p.Asn4227His)
|
|
|
NM_182961.4(SYNE1):c.12719G>A (p.Arg4240Lys)
|
|
|
NM_182961.4(SYNE1):c.1271C>T (p.Ala424Val)
|
|
|
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr)
|
rs1590300572
|
|
NM_182961.4(SYNE1):c.12743T>C (p.Val4248Ala)
|
|
|
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=)
|
rs1554474578
|
|
NM_182961.4(SYNE1):c.12809G>A (p.Ser4270Asn)
|
|
|
NM_182961.4(SYNE1):c.1284A>C (p.Glu428Asp)
|
|
|
NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)
|
|
|
NM_182961.4(SYNE1):c.129+3A>G
|
|
|
NM_182961.4(SYNE1):c.12907A>G (p.Ile4303Val)
|
rs758301679
|
|
NM_182961.4(SYNE1):c.12914A>T (p.His4305Leu)
|
|
|
NM_182961.4(SYNE1):c.1291G>A (p.Val431Ile)
|
|
|
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe)
|
rs761198236
|
|
NM_182961.4(SYNE1):c.12923T>C (p.Leu4308Ser)
|
|
|
NM_182961.4(SYNE1):c.12941T>C (p.Val4314Ala)
|
rs2153974951
|
|
NM_182961.4(SYNE1):c.12956G>A (p.Ser4319Asn)
|
rs2153974889
|
|
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
|
|
|
NM_182961.4(SYNE1):c.12997A>G (p.Lys4333Glu)
|
|
|
NM_182961.4(SYNE1):c.13011A>T (p.Gln4337His)
|
|
|
NM_182961.4(SYNE1):c.13064A>G (p.Glu4355Gly)
|
rs2153974617
|
|
NM_182961.4(SYNE1):c.1309G>A (p.Glu437Lys)
|
rs2154294590
|
|
NM_182961.4(SYNE1):c.13102G>T (p.Ala4368Ser)
|
rs201900423
|
|
NM_182961.4(SYNE1):c.13120A>G (p.Ser4374Gly)
|
|
|
NM_182961.4(SYNE1):c.13136T>C (p.Met4379Thr)
|
|
|
NM_182961.4(SYNE1):c.13153A>G (p.Met4385Val)
|
|
|
NM_182961.4(SYNE1):c.13187C>T (p.Ala4396Val)
|
|
|
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
|
|
|
NM_182961.4(SYNE1):c.13197G>T (p.Met4399Ile)
|
|
|
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly)
|
rs886061204
|
|
NM_182961.4(SYNE1):c.13240G>T (p.Asp4414Tyr)
|
|
|
NM_182961.4(SYNE1):c.13259G>A (p.Arg4420Gln)
|
rs766831979
|
|
NM_182961.4(SYNE1):c.13279C>G (p.Leu4427Val)
|
|
|
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
|
|
|
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr)
|
rs1405025412
|
|
NM_182961.4(SYNE1):c.13372T>A (p.Phe4458Ile)
|
rs2153973664
|
|
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
|
|
|
NM_182961.4(SYNE1):c.13391A>G (p.Gln4464Arg)
|
rs2153973584
|
|
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)
|
rs554814659
|
|
NM_182961.4(SYNE1):c.13418A>G (p.Glu4473Gly)
|
rs1202464044
|
|
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu)
|
rs768085752
|
|
NM_182961.4(SYNE1):c.13475A>T (p.Gln4492Leu)
|
|
|
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly)
|
rs2153973254
|
|
NM_182961.4(SYNE1):c.13511A>C (p.Lys4504Thr)
|
|
|
NM_182961.4(SYNE1):c.13513A>T (p.Thr4505Ser)
|
|
|
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile)
|
rs1554471456
|
|
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala)
|
rs933108692
|
|
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
|
|
|
NM_182961.4(SYNE1):c.13543G>C (p.Ala4515Pro)
|
|
|
NM_182961.4(SYNE1):c.13562T>C (p.Met4521Thr)
|
|
|
NM_182961.4(SYNE1):c.13587G>C (p.Lys4529Asn)
|
rs1265607198
|
|
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro)
|
rs2096237841
|
|
NM_182961.4(SYNE1):c.1360C>G (p.Gln454Glu)
|
rs542819749
|
|
NM_182961.4(SYNE1):c.13620G>C (p.Gln4540His)
|
rs755192690
|
|
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe)
|
rs138770612
|
|
NM_182961.4(SYNE1):c.13658G>A (p.Arg4553Gln)
|
|
|
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys)
|
rs1590225545
|
|
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp)
|
rs968829958
|
|
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro)
|
rs1593394821
|
|
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
|
|
|
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile)
|
rs2153972296
|
|
NM_182961.4(SYNE1):c.13832A>T (p.Gln4611Leu)
|
rs762392590
|
|
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del)
|
rs1085307610
|
|
NM_182961.4(SYNE1):c.13877G>C (p.Gly4626Ala)
|
rs2096230090
|
|
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup)
|
rs886043161
|
|
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg)
|
rs374697325
|
|
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
|
|
|
NM_182961.4(SYNE1):c.14116G>C (p.Val4706Leu)
|
rs374596074
|
|
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr)
|
rs1346910826
|
|
NM_182961.4(SYNE1):c.14180G>A (p.Gly4727Glu)
|
|
|
NM_182961.4(SYNE1):c.14198T>A (p.Leu4733Gln)
|
|
|
NM_182961.4(SYNE1):c.14234A>G (p.Gln4745Arg)
|
|
|
NM_182961.4(SYNE1):c.1424T>C (p.Ile475Thr)
|
|
|
NM_182961.4(SYNE1):c.14253G>C (p.Lys4751Asn)
|
rs766721753
|
|
NM_182961.4(SYNE1):c.14279A>T (p.His4760Leu)
|
|
|
NM_182961.4(SYNE1):c.14318T>C (p.Leu4773Ser)
|
|
|
NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)
|
|
|
NM_182961.4(SYNE1):c.1432C>T (p.Pro478Ser)
|
rs756636517
|
|
NM_182961.4(SYNE1):c.14335G>A (p.Ala4779Thr)
|
rs368490158
|
|
NM_182961.4(SYNE1):c.14353A>G (p.Lys4785Glu)
|
rs2153970528
|
|
NM_182961.4(SYNE1):c.14359T>C (p.Cys4787Arg)
|
|
|
NM_182961.4(SYNE1):c.14378A>G (p.Gln4793Arg)
|
|
|
NM_182961.4(SYNE1):c.14398G>C (p.Glu4800Gln)
|
rs2096215013
|
|
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys)
|
rs746657854
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|
NM_182961.4(SYNE1):c.14441A>G (p.Lys4814Arg)
|
|
|
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
|
|
|
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys)
|
rs1554768095
|
|
NM_182961.4(SYNE1):c.14522A>G (p.Asp4841Gly)
|
rs2096212044
|
|
NM_182961.4(SYNE1):c.14548G>A (p.Ala4850Thr)
|
|
|
NM_182961.4(SYNE1):c.1455G>A (p.Met485Ile)
|
rs2154279827
|
|
NM_182961.4(SYNE1):c.14578T>A (p.Ser4860Thr)
|
|
|
NM_182961.4(SYNE1):c.1459G>A (p.Glu487Lys)
|
|
|
NM_182961.4(SYNE1):c.14609C>T (p.Ser4870Phe)
|
|
|
NM_182961.4(SYNE1):c.14611G>A (p.Ala4871Thr)
|
rs2096210316
|
|
NM_182961.4(SYNE1):c.14617G>A (p.Gly4873Ser)
|
rs2153969748
|
|
NM_182961.4(SYNE1):c.14626G>A (p.Val4876Met)
|
rs1297328408
|
|
NM_182961.4(SYNE1):c.14636G>A (p.Cys4879Tyr)
|
|
|
NM_182961.4(SYNE1):c.14639A>G (p.Glu4880Gly)
|
|
|
NM_182961.4(SYNE1):c.14649G>A (p.Met4883Ile)
|
rs922999800
|
|
NM_182961.4(SYNE1):c.14681G>A (p.Ser4894Asn)
|
rs2096207947
|
|
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg)
|
rs753891807
|
|
NM_182961.4(SYNE1):c.14738T>C (p.Leu4913Pro)
|
rs2096206184
|
|
NM_182961.4(SYNE1):c.14741A>G (p.Asp4914Gly)
|
|
|
NM_182961.4(SYNE1):c.14750T>A (p.Leu4917Gln)
|
rs2153969244
|
|
NM_182961.4(SYNE1):c.14756A>G (p.Asp4919Gly)
|
rs2096205614
|
|
NM_182961.4(SYNE1):c.14782C>G (p.Gln4928Glu)
|
|
|
NM_182961.4(SYNE1):c.14809A>C (p.Ser4937Arg)
|
rs780093837
|
|
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
|
|
|
NM_182961.4(SYNE1):c.14854T>C (p.Phe4952Leu)
|
rs1044018341
|
|
NM_182961.4(SYNE1):c.148G>A (p.Val50Met)
|
rs1023433513
|
|
NM_182961.4(SYNE1):c.14917C>G (p.Leu4973Val)
|
rs35085679
|
|
NM_182961.4(SYNE1):c.14956-19T>A
|
|
|
NM_182961.4(SYNE1):c.14978G>A (p.Ser4993Asn)
|
|
|
NM_182961.4(SYNE1):c.15065G>T (p.Gly5022Val)
|
|
|
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
|
|
|
NM_182961.4(SYNE1):c.15080G>A (p.Ser5027Asn)
|
|
|
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly)
|
rs1563087715
|
|
NM_182961.4(SYNE1):c.15095T>C (p.Leu5032Pro)
|
rs2153955400
|
|
NM_182961.4(SYNE1):c.15122C>T (p.Thr5041Ile)
|
|
|
NM_182961.4(SYNE1):c.15124G>A (p.Glu5042Lys)
|
rs533927341
|
|
NM_182961.4(SYNE1):c.15140G>T (p.Ser5047Ile)
|
|
|
NM_182961.4(SYNE1):c.15151_15152delinsAT (p.Glu5051Met)
|
rs2096068834
|
|
NM_182961.4(SYNE1):c.15162C>A (p.Ser5054Arg)
|
|
|
NM_182961.4(SYNE1):c.15181C>G (p.Pro5061Ala)
|
rs886042595
|
|
NM_182961.4(SYNE1):c.15188T>C (p.Ile5063Thr)
|
rs1486769103
|
|
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
|
|
|
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val)
|
rs756766678
|
|
NM_182961.4(SYNE1):c.1528T>A (p.Tyr510Asn)
|
rs2154279114
|
|
NM_182961.4(SYNE1):c.152A>G (p.Asp51Gly)
|
|
|
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr)
|
rs759275432
|
|
NM_182961.4(SYNE1):c.1532G>A (p.Arg511His)
|
rs1432273399
|
|
NM_182961.4(SYNE1):c.15335A>C (p.Glu5112Ala)
|
rs2153953000
|
|
NM_182961.4(SYNE1):c.15341T>C (p.Ile5114Thr)
|
|
|
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu)
|
rs1309063617
|
|
NM_182961.4(SYNE1):c.15368A>G (p.Lys5123Arg)
|
rs2153952840
|
|
NM_182961.4(SYNE1):c.15423A>C (p.Lys5141Asn)
|
|
|
NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)
|
|
|
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg)
|
rs2153952625
|
|
NM_182961.4(SYNE1):c.1546C>A (p.Leu516Met)
|
|
|
NM_182961.4(SYNE1):c.15470A>T (p.Glu5157Val)
|
|
|
NM_182961.4(SYNE1):c.15497C>T (p.Ala5166Val)
|
rs2153949505
|
|
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn)
|
rs560155321
|
|
NM_182961.4(SYNE1):c.15500C>T (p.Ser5167Leu)
|
|
|
NM_182961.4(SYNE1):c.15533A>T (p.Lys5178Ile)
|
rs2096026505
|
|
NM_182961.4(SYNE1):c.15535G>A (p.Ala5179Thr)
|
|
|
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=)
|
rs774649954
|
|
NM_182961.4(SYNE1):c.15554T>C (p.Met5185Thr)
|
|
|
NM_182961.4(SYNE1):c.15580C>G (p.Arg5194Gly)
|
|
|
NM_182961.4(SYNE1):c.15581G>A (p.Arg5194His)
|
rs751121212
|
|
NM_182961.4(SYNE1):c.15584T>G (p.Leu5195Arg)
|
rs758161214
|
|
NM_182961.4(SYNE1):c.15587G>C (p.Arg5196Pro)
|
rs752229373
|
|
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=)
|
rs762262465
|
|
NM_182961.4(SYNE1):c.15620A>G (p.Glu5207Gly)
|
|
|
NM_182961.4(SYNE1):c.15641C>T (p.Thr5214Met)
|
|
|
NM_182961.4(SYNE1):c.15678G>A (p.Met5226Ile)
|
rs2095955611
|
|
NM_182961.4(SYNE1):c.15704C>T (p.Pro5235Leu)
|
rs2095954870
|
|
NM_182961.4(SYNE1):c.15763G>A (p.Asp5255Asn)
|
|
|
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg)
|
rs1379759625
|
|
NM_182961.4(SYNE1):c.15767C>T (p.Thr5256Met)
|
|
|
NM_182961.4(SYNE1):c.15772G>A (p.Val5258Ile)
|
|
|
NM_182961.4(SYNE1):c.15791A>G (p.Gln5264Arg)
|
rs2153938686
|
|
NM_182961.4(SYNE1):c.15830G>A (p.Ser5277Asn)
|
rs2095950565
|
|
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn)
|
rs1322082202
|
|
NM_182961.4(SYNE1):c.15850G>A (p.Ala5284Thr)
|
|
|
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu)
|
rs758942889
|
|
NM_182961.4(SYNE1):c.15880A>G (p.Met5294Val)
|
rs768403781
|
|
NM_182961.4(SYNE1):c.15881T>C (p.Met5294Thr)
|
rs748905719
|
|
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu)
|
rs1221150819
|
|
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=)
|
rs149215868
|
|
NM_182961.4(SYNE1):c.15913C>A (p.Leu5305Met)
|
rs2153937753
|
|
NM_182961.4(SYNE1):c.15917+3A>T
|
rs2153937725
|
|
NM_182961.4(SYNE1):c.15919A>T (p.Met5307Leu)
|
rs1554441847
|
|
NM_182961.4(SYNE1):c.15951G>C (p.Leu5317Phe)
|
|
|
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met)
|
rs886061203
|
|
NM_182961.4(SYNE1):c.15978A>C (p.Glu5326Asp)
|
rs2095874810
|
|
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys)
|
rs765080592
|
|
NM_182961.4(SYNE1):c.16039G>T (p.Gly5347Trp)
|
|
|
NM_182961.4(SYNE1):c.1603T>A (p.Ser535Thr)
|
|
|
NM_182961.4(SYNE1):c.16048A>G (p.Thr5350Ala)
|
rs2095873538
|
|
NM_182961.4(SYNE1):c.16050AATAGA[1] (p.Glu5352_Ile5353del)
|
rs1487695655
|
|
NM_182961.4(SYNE1):c.16067A>T (p.Gln5356Leu)
|
|
|
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala)
|
rs1342214470
|
|
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe)
|
rs942561370
|
|
NM_182961.4(SYNE1):c.16204G>A (p.Glu5402Lys)
|
rs1320150804
|
|
NM_182961.4(SYNE1):c.16205A>T (p.Glu5402Val)
|
rs2153923807
|
|
NM_182961.4(SYNE1):c.16228C>G (p.Arg5410Gly)
|
|
|
NM_182961.4(SYNE1):c.16236+4A>C
|
|
|
NM_182961.4(SYNE1):c.16248A>C (p.Lys5416Asn)
|
rs2095804308
|
|
NM_182961.4(SYNE1):c.1632+3G>A
|
|
|
NM_182961.4(SYNE1):c.16349C>A (p.Ala5450Glu)
|
rs181649865
|
|
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val)
|
rs181649865
|
|
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
|
|
|
NM_182961.4(SYNE1):c.16388A>T (p.Lys5463Met)
|
|
|
NM_182961.4(SYNE1):c.16415G>A (p.Cys5472Tyr)
|
|
|
NM_182961.4(SYNE1):c.16442C>T (p.Ala5481Val)
|
|
|
NM_182961.4(SYNE1):c.16472G>T (p.Gly5491Val)
|
rs530429418
|
|
NM_182961.4(SYNE1):c.16495A>C (p.Lys5499Gln)
|
rs2153899250
|
|
NM_182961.4(SYNE1):c.16501A>G (p.Ile5501Val)
|
rs2153899235
|
|
NM_182961.4(SYNE1):c.16534A>G (p.Ile5512Val)
|
rs2095781749
|
|
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn)
|
rs886061216
|
|
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
|
|
|
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser)
|
rs1563012099
|
|
NM_182961.4(SYNE1):c.16641A>T (p.Lys5547Asn)
|
rs2153893118
|
|
NM_182961.4(SYNE1):c.16648G>C (p.Ala5550Pro)
|
|
|
NM_182961.4(SYNE1):c.16666T>A (p.Trp5556Arg)
|
rs2095739223
|
|
NM_182961.4(SYNE1):c.16673C>T (p.Ser5558Phe)
|
rs1379717748
|
|
NM_182961.4(SYNE1):c.16688G>A (p.Arg5563Gln)
|
|
|
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
|
|
|
NM_182961.4(SYNE1):c.167A>G (p.Asp56Gly)
|
|
|
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro)
|
rs886043922
|
|
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys)
|
rs1045463275
|
|
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
|
|
|
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser)
|
rs765080468
|
|
NM_182961.4(SYNE1):c.16880T>C (p.Leu5627Pro)
|
rs2153836967
|
|
NM_182961.4(SYNE1):c.16897-6C>G
|
rs372179792
|
|
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
|
|
|
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=)
|
rs869025528
|
|
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys)
|
rs2153836745
|
|
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu)
|
rs776905124
|
|
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln)
|
rs886043150
|
|
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile)
|
rs2095499163
|
|
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
|
|
|
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
|
|
|
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
|
|
|
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met)
|
rs1479722158
|
|
NM_182961.4(SYNE1):c.1707G>A (p.Met569Ile)
|
|
|
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser)
|
rs2153836097
|
|
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly)
|
rs780396166
|
|
NM_182961.4(SYNE1):c.1715A>G (p.Lys572Arg)
|
rs1192063694
|
|
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp)
|
rs138941941
|
|
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr)
|
rs775685010
|
|
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
|
|
|
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
|
|
|
NM_182961.4(SYNE1):c.17203-5C>A
|
rs886044642
|
|
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro)
|
rs2095450657
|
|
NM_182961.4(SYNE1):c.17308A>G (p.Asn5770Asp)
|
|
|
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys)
|
rs2095448965
|
|
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr)
|
rs774018511
|
|
NM_182961.4(SYNE1):c.17346+17C>T
|
|
|
NM_182961.4(SYNE1):c.17347-13A>G
|
|
|
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser)
|
rs764611066
|
|
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp)
|
rs2153813360
|
|
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly)
|
rs2095195177
|
|
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
|
|
|
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys)
|
rs918895767
|
|
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln)
|
rs918895767
|
|
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly)
|
rs886042413
|
|
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
|
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His)
|
rs2095191599
|
|
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val)
|
rs2153813002
|
|
NM_182961.4(SYNE1):c.17542-5G>A
|
rs776747142
|
|
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn)
|
rs1450245566
|
|
NM_182961.4(SYNE1):c.17597A>C (p.Glu5866Ala)
|
|
|
NM_182961.4(SYNE1):c.17605A>G (p.Thr5869Ala)
|
rs2153809663
|
|
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu)
|
rs767844376
|
|
NM_182961.4(SYNE1):c.17682+4C>T
|
|
|
NM_182961.4(SYNE1):c.17698C>G (p.Gln5900Glu)
|
|
|
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr)
|
rs747150703
|
|
NM_182961.4(SYNE1):c.17758G>T (p.Ala5920Ser)
|
rs765300968
|
|
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=)
|
rs997194150
|
|
NM_182961.4(SYNE1):c.17850+4A>G
|
rs200922100
|
|
NM_182961.4(SYNE1):c.1786A>C (p.Asn596His)
|
|
|
NM_182961.4(SYNE1):c.17890C>T (p.Arg5964Cys)
|
|
|
NM_182961.4(SYNE1):c.17956C>A (p.Leu5986Ile)
|
|
|
NM_182961.4(SYNE1):c.17959A>G (p.Ser5987Gly)
|
|
|
NM_182961.4(SYNE1):c.17967C>A (p.Ser5989Arg)
|
rs2153782971
|
|
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly)
|
rs1554363340
|
|
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys)
|
rs1589456322
|
|
NM_182961.4(SYNE1):c.18007C>T (p.His6003Tyr)
|
|
|
NM_182961.4(SYNE1):c.18013-3C>T
|
rs2153732604
|
|
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
|
|
|
NM_182961.4(SYNE1):c.18073G>T (p.Ala6025Ser)
|
|
|
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly)
|
rs780920250
|
|
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His)
|
rs147615757
|
|
NM_182961.4(SYNE1):c.18161T>C (p.Met6054Thr)
|
rs2153731962
|
|
NM_182961.4(SYNE1):c.18207+13T>G
|
|
|
NM_182961.4(SYNE1):c.18208-4A>G
|
rs1246664941
|
|
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys)
|
rs886043015
|
|
NM_182961.4(SYNE1):c.18242A>G (p.Gln6081Arg)
|
|
|
NM_182961.4(SYNE1):c.1825G>A (p.Glu609Lys)
|
rs2154269816
|
|
NM_182961.4(SYNE1):c.18308A>G (p.Lys6103Arg)
|
|
|
NM_182961.4(SYNE1):c.18361_18362delinsAT (p.Ala6121Ile)
|
rs2153724594
|
|
NM_182961.4(SYNE1):c.18381+3A>C
|
rs2153724535
|
|
NM_182961.4(SYNE1):c.18389T>G (p.Leu6130Arg)
|
|
|
NM_182961.4(SYNE1):c.18409G>A (p.Val6137Met)
|
rs945540285
|
|
NM_182961.4(SYNE1):c.18487G>A (p.Glu6163Lys)
|
|
|
NM_182961.4(SYNE1):c.18504G>T (p.Lys6168Asn)
|
|
|
NM_182961.4(SYNE1):c.18520G>A (p.Gly6174Arg)
|
|
|
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg)
|
rs2093773675
|
|
NM_182961.4(SYNE1):c.18565A>G (p.Asn6189Asp)
|
|
|
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys)
|
rs867471417
|
|
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile)
|
rs886044368
|
|
NM_182961.4(SYNE1):c.18592GAG[1] (p.Glu6199del)
|
rs771543751
|
|
NM_182961.4(SYNE1):c.18602A>G (p.Asp6201Gly)
|
rs375829264
|
|
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val)
|
rs375829264
|
|
NM_182961.4(SYNE1):c.18605T>A (p.Val6202Asp)
|
|
|
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser)
|
rs201685248
|
|
NM_182961.4(SYNE1):c.18659G>T (p.Arg6220Leu)
|
rs377307244
|
|
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala)
|
rs886061202
|
|
NM_182961.4(SYNE1):c.1867G>A (p.Ala623Thr)
|
|
|
NM_182961.4(SYNE1):c.18680G>A (p.Arg6227Gln)
|
|
|
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu)
|
rs778929049
|
|
NM_182961.4(SYNE1):c.18683A>G (p.Gln6228Arg)
|
|
|
NM_182961.4(SYNE1):c.18705+6G>A
|
rs2153679070
|
|
NM_182961.4(SYNE1):c.1871G>A (p.Ser624Asn)
|
|
|
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp)
|
rs2092880052
|
|
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln)
|
rs200360218
|
|
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn)
|
rs2092878526
|
|
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro)
|
rs886061201
|
|
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val)
|
rs1275027623
|
|
NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)
|
|
|
NM_182961.4(SYNE1):c.18824C>T (p.Pro6275Leu)
|
rs2092093757
|
|
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
|
|
|
NM_182961.4(SYNE1):c.18876A>C (p.Glu6292Asp)
|
rs778537486
|
|
NM_182961.4(SYNE1):c.18885G>A (p.Met6295Ile)
|
|
|
NM_182961.4(SYNE1):c.1891G>T (p.Asp631Tyr)
|
rs771327791
|
|
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln)
|
rs376472604
|
|
NM_182961.4(SYNE1):c.18972G>C (p.Val6324=)
|
rs1316935433
|
|
NM_182961.4(SYNE1):c.19001C>T (p.Ser6334Phe)
|
|
|
NM_182961.4(SYNE1):c.19010C>G (p.Pro6337Arg)
|
rs2090949177
|
|
NM_182961.4(SYNE1):c.19051G>A (p.Val6351Ile)
|
rs2090941359
|
|
NM_182961.4(SYNE1):c.19084T>A (p.Phe6362Ile)
|
rs2090937224
|
|
NM_182961.4(SYNE1):c.19093G>T (p.Val6365Phe)
|
rs2153628762
|
|
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr)
|
rs769911507
|
|
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
|
|
|
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu)
|
rs1554285472
|
|
NM_182961.4(SYNE1):c.19122G>T (p.Arg6374Ser)
|
|
|
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr)
|
rs1588858602
|
|
NM_182961.4(SYNE1):c.19132C>G (p.His6378Asp)
|
rs781479222
|
|
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg)
|
rs1554756030
|
|
NM_182961.4(SYNE1):c.19141C>A (p.Gln6381Lys)
|
|
|
NM_182961.4(SYNE1):c.19163C>T (p.Ser6388Leu)
|
|
|
NM_182961.4(SYNE1):c.19166C>G (p.Ala6389Gly)
|
|
|
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=)
|
rs2090636581
|
|
NM_182961.4(SYNE1):c.19193A>C (p.Glu6398Ala)
|
|
|
NM_182961.4(SYNE1):c.19203A>T (p.Leu6401Phe)
|
rs966960053
|
|
NM_182961.4(SYNE1):c.19214C>T (p.Thr6405Ile)
|
rs2153623229
|
|
NM_182961.4(SYNE1):c.19260+3A>G
|
|
|
NM_182961.4(SYNE1):c.19289C>G (p.Ser6430Cys)
|
|
|
NM_182961.4(SYNE1):c.19300G>C (p.Asp6434His)
|
|
|
NM_182961.4(SYNE1):c.19305G>C (p.Lys6435Asn)
|
|
|
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr)
|
rs996252466
|
|
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn)
|
rs2090468441
|
|
NM_182961.4(SYNE1):c.19316T>C (p.Leu6439Ser)
|
|
|
NM_182961.4(SYNE1):c.1932+9G>T
|
rs746181375
|
|
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr)
|
rs1315831856
|
|
NM_182961.4(SYNE1):c.19373T>C (p.Leu6458Ser)
|
rs2153620062
|
|
NM_182961.4(SYNE1):c.19433A>G (p.Gln6478Arg)
|
rs2153619732
|
|
NM_182961.4(SYNE1):c.1945A>G (p.Asn649Asp)
|
|
|
NM_182961.4(SYNE1):c.1948T>G (p.Leu650Val)
|
rs2154267666
|
|
NM_182961.4(SYNE1):c.19496C>T (p.Ser6499Leu)
|
rs779049973
|
|
NM_182961.4(SYNE1):c.194C>T (p.Ala65Val)
|
|
|
NM_182961.4(SYNE1):c.19577T>C (p.Ile6526Thr)
|
rs2086639076
|
|
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
|
|
|
NM_182961.4(SYNE1):c.19588G>A (p.Glu6530Lys)
|
rs2086635846
|
|
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys)
|
rs1290381941
|
|
NM_182961.4(SYNE1):c.19635G>C (p.Arg6545Ser)
|
rs147143947
|
|
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=)
|
rs773211579
|
|
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
|
|
|
NM_182961.4(SYNE1):c.19680C>G (p.Leu6560=)
|
|
|
NM_182961.4(SYNE1):c.19720A>G (p.Ile6574Val)
|
|
|
NM_182961.4(SYNE1):c.19787A>G (p.Gln6596Arg)
|
rs2085923878
|
|
NM_182961.4(SYNE1):c.1980G>A (p.Met660Ile)
|
rs2098746138
|
|
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr)
|
rs769943207
|
|
NM_182961.4(SYNE1):c.19853C>T (p.Ser6618Phe)
|
|
|
NM_182961.4(SYNE1):c.19893+5A>G
|
rs374102244
|
|
NM_182961.4(SYNE1):c.19893+6T>C
|
rs377413112
|
|
NM_182961.4(SYNE1):c.19918C>T (p.His6640Tyr)
|
|
|
NM_182961.4(SYNE1):c.19951A>C (p.Ile6651Leu)
|
|
|
NM_182961.4(SYNE1):c.19980_19981delinsAA (p.Gln6661Lys)
|
rs2153551621
|
|
NM_182961.4(SYNE1):c.19987C>T (p.His6663Tyr)
|
|
|
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr)
|
rs2085071185
|
|
NM_182961.4(SYNE1):c.20002G>T (p.Ala6668Ser)
|
rs770873356
|
|
NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)
|
|
|
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu)
|
rs578055399
|
|
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser)
|
rs1376604930
|
|
NM_182961.4(SYNE1):c.20104A>G (p.Ser6702Gly)
|
rs2084228622
|
|
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu)
|
rs1189558235
|
|
NM_182961.4(SYNE1):c.20122G>C (p.Val6708Leu)
|
rs765132195
|
|
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp)
|
rs769305344
|
|
NM_182961.4(SYNE1):c.20162A>G (p.Asn6721Ser)
|
|
|
NM_182961.4(SYNE1):c.20230C>T (p.Pro6744Ser)
|
|
|
NM_182961.4(SYNE1):c.20315T>G (p.Leu6772Arg)
|
|
|
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn)
|
rs949257779
|
|
NM_182961.4(SYNE1):c.20364C>A (p.His6788Gln)
|
|
|
NM_182961.4(SYNE1):c.20395A>G (p.Arg6799Gly)
|
rs2153534806
|
|
NM_182961.4(SYNE1):c.20401C>G (p.Gln6801Glu)
|
|
|
NM_182961.4(SYNE1):c.20419C>G (p.Leu6807Val)
|
rs2083603543
|
|
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val)
|
rs1562385964
|
|
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
|
|
|
NM_182961.4(SYNE1):c.20506C>T (p.Arg6836Cys)
|
|
|
NM_182961.4(SYNE1):c.20507G>A (p.Arg6836His)
|
|
|
NM_182961.4(SYNE1):c.20614G>T (p.Val6872Leu)
|
|
|
NM_182961.4(SYNE1):c.20636C>T (p.Ser6879Phe)
|
rs769820392
|
|
NM_182961.4(SYNE1):c.20645C>G (p.Ser6882Trp)
|
|
|
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His)
|
rs758105121
|
|
NM_182961.4(SYNE1):c.20648G>T (p.Arg6883Leu)
|
|
|
NM_182961.4(SYNE1):c.20666C>G (p.Thr6889Ser)
|
rs2083351978
|
|
NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)
|
|
|
NM_182961.4(SYNE1):c.20690C>T (p.Ala6897Val)
|
rs369855513
|
|
NM_182961.4(SYNE1):c.20692G>T (p.Val6898Phe)
|
|
|
NM_182961.4(SYNE1):c.20712G>T (p.Gln6904His)
|
|
|
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=)
|
rs2082942186
|
|
NM_182961.4(SYNE1):c.20746A>G (p.Ile6916Val)
|
|
|
NM_182961.4(SYNE1):c.20773C>G (p.Leu6925Val)
|
|
|
NM_182961.4(SYNE1):c.20795A>C (p.Lys6932Thr)
|
|
|
NM_182961.4(SYNE1):c.20817T>A (p.Asn6939Lys)
|
|
|
NM_182961.4(SYNE1):c.20818T>G (p.Ser6940Ala)
|
|
|
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly)
|
rs886044105
|
|
NM_182961.4(SYNE1):c.20851C>G (p.Gln6951Glu)
|
rs2153517122
|
|
NM_182961.4(SYNE1):c.20862+5T>A
|
|
|
NM_182961.4(SYNE1):c.20863-5T>G
|
rs2082753195
|
|
NM_182961.4(SYNE1):c.20900T>C (p.Val6967Ala)
|
|
|
NM_182961.4(SYNE1):c.20928A>C (p.Gln6976His)
|
rs763904392
|
|
NM_182961.4(SYNE1):c.20941G>T (p.Asp6981Tyr)
|
|
|
NM_182961.4(SYNE1):c.20956C>T (p.Arg6986Cys)
|
|
|
NM_182961.4(SYNE1):c.20975T>A (p.Phe6992Tyr)
|
rs2082727720
|
|
NM_182961.4(SYNE1):c.21005_21006delinsAG (p.Ser7002Lys)
|
|
|
NM_182961.4(SYNE1):c.21007T>A (p.Trp7003Arg)
|
rs2082723314
|
|
NM_182961.4(SYNE1):c.21007T>C (p.Trp7003Arg)
|
rs2082723314
|
|
NM_182961.4(SYNE1):c.21011A>G (p.Gln7004Arg)
|
|
|
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
|
|
|
NM_182961.4(SYNE1):c.21042C>A (p.Ile7014=)
|
|
|
NM_182961.4(SYNE1):c.21058T>G (p.Leu7020Val)
|
|
|
NM_182961.4(SYNE1):c.21090T>G (p.Asn7030Lys)
|
rs758318901
|
|
NM_182961.4(SYNE1):c.21113T>C (p.Phe7038Ser)
|
rs2153509730
|
|
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
|
|
|
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=)
|
rs886061200
|
|
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu)
|
rs2098742431
|
|
NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)
|
|
|
NM_182961.4(SYNE1):c.21184A>C (p.Lys7062Gln)
|
rs771203839
|
|
NM_182961.4(SYNE1):c.21187G>C (p.Asp7063His)
|
rs1267961945
|
|
NM_182961.4(SYNE1):c.21193C>G (p.Gln7065Glu)
|
rs2153509038
|
|
NM_182961.4(SYNE1):c.21195+17G>A
|
|
|
NM_182961.4(SYNE1):c.21221A>G (p.Lys7074Arg)
|
rs749981989
|
|
NM_182961.4(SYNE1):c.21235G>C (p.Glu7079Gln)
|
rs2081454702
|
|
NM_182961.4(SYNE1):c.2123G>A (p.Arg708Lys)
|
|
|
NM_182961.4(SYNE1):c.21251A>G (p.Asn7084Ser)
|
|
|
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser)
|
rs1321824454
|
|
NM_182961.4(SYNE1):c.21271A>T (p.Asn7091Tyr)
|
rs777618601
|
|
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg)
|
rs2081442642
|
|
NM_182961.4(SYNE1):c.21317A>T (p.Glu7106Val)
|
rs2153485074
|
|
NM_182961.4(SYNE1):c.21351+14C>T
|
rs2081426061
|
|
NM_182961.4(SYNE1):c.21351+4A>G
|
rs2081431126
|
|
NM_182961.4(SYNE1):c.21370C>G (p.Leu7124Val)
|
|
|
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met)
|
rs775691059
|
|
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe)
|
rs776459203
|
|
NM_182961.4(SYNE1):c.21445G>A (p.Ala7149Thr)
|
|
|
NM_182961.4(SYNE1):c.21464G>A (p.Arg7155Gln)
|
|
|
NM_182961.4(SYNE1):c.21468C>G (p.Phe7156Leu)
|
|
|
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
|
rs369355230
|
|
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=)
|
rs1427603497
|
|
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp)
|
rs886061199
|
|
NM_182961.4(SYNE1):c.21522+6del
|
|
|
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His)
|
rs886061198
|
|
NM_182961.4(SYNE1):c.21523-8dup
|
rs761577958
|
|
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys)
|
rs780059512
|
|
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr)
|
rs794727041
|
|
NM_182961.4(SYNE1):c.21685G>A (p.Glu7229Lys)
|
|
|
NM_182961.4(SYNE1):c.21694C>G (p.Gln7232Glu)
|
|
|
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=)
|
rs886061197
|
|
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe)
|
rs775870306
|
|
NM_182961.4(SYNE1):c.21826G>A (p.Asp7276Asn)
|
|
|
NM_182961.4(SYNE1):c.21832G>A (p.Glu7278Lys)
|
|
|
NM_182961.4(SYNE1):c.2186A>G (p.Lys729Arg)
|
rs2098742034
|
|
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp)
|
rs1377401737
|
|
NM_182961.4(SYNE1):c.218A>C (p.Gln73Pro)
|
rs2154353751
|
|
NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)
|
|
|
NM_182961.4(SYNE1):c.21911A>G (p.His7304Arg)
|
rs557878312
|
|
NM_182961.4(SYNE1):c.21936A>T (p.Gln7312His)
|
rs968163245
|
|
NM_182961.4(SYNE1):c.21961G>A (p.Ala7321Thr)
|
|
|
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
|
|
|
NM_182961.4(SYNE1):c.21978A>C (p.Gln7326His)
|
|
|
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His)
|
rs756758310
|
|
NM_182961.4(SYNE1):c.21986T>C (p.Leu7329Ser)
|
rs2079440770
|
|
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile)
|
rs1588081530
|
|
NM_182961.4(SYNE1):c.22009G>C (p.Glu7337Gln)
|
|
|
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg)
|
rs886061215
|
|
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu)
|
rs2079430530
|
|
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
|
|
|
NM_182961.4(SYNE1):c.22044+9C>T
|
rs774609945
|
|
NM_182961.4(SYNE1):c.2204T>C (p.Leu735Ser)
|
|
|
NM_182961.4(SYNE1):c.22054C>A (p.Leu7352Ile)
|
rs1199232781
|
|
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His)
|
rs944485518
|
|
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
|
|
|
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
|
|
|
NM_182961.4(SYNE1):c.2209G>A (p.Val737Ile)
|
rs2154266865
|
|
NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)
|
|
|
NM_182961.4(SYNE1):c.22106T>C (p.Val7369Ala)
|
|
|
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val)
|
rs1588067419
|
|
NM_182961.4(SYNE1):c.22135G>A (p.Asp7379Asn)
|
|
|
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn)
|
rs886043280
|
|
NM_182961.4(SYNE1):c.22154A>T (p.Asp7385Val)
|
rs2153454164
|
|
NM_182961.4(SYNE1):c.22191+4A>G
|
rs2153454005
|
|
NM_182961.4(SYNE1):c.22192-14A>G
|
|
|
NM_182961.4(SYNE1):c.22200G>A (p.Met7400Ile)
|
|
|
NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile)
|
rs778036632
|
|
NM_182961.4(SYNE1):c.22241A>G (p.Asn7414Ser)
|
rs760439015
|
|
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp)
|
rs767375107
|
|
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys)
|
rs554483231
|
|
NM_182961.4(SYNE1):c.22320CTC[1] (p.Ser7442del)
|
rs756712103
|
|
NM_182961.4(SYNE1):c.22346+6G>A
|
|
|
NM_182961.4(SYNE1):c.22362T>A (p.Phe7454Leu)
|
rs371289584
|
|
NM_182961.4(SYNE1):c.22377G>T (p.Gln7459His)
|
|
|
NM_182961.4(SYNE1):c.22433A>C (p.Lys7478Thr)
|
|
|
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly)
|
rs1587952687
|
|
NM_182961.4(SYNE1):c.22479G>T (p.Gln7493His)
|
|
|
NM_182961.4(SYNE1):c.22491C>G (p.His7497Gln)
|
|
|
NM_182961.4(SYNE1):c.22494+4A>G
|
|
|
NM_182961.4(SYNE1):c.22494G>A (p.Glu7498=)
|
|
|
NM_182961.4(SYNE1):c.225+5G>C
|
rs1594697066
|
|
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val)
|
rs963496863
|
|
NM_182961.4(SYNE1):c.22561C>A (p.Leu7521Ile)
|
|
|
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile)
|
rs1554568810
|
|
NM_182961.4(SYNE1):c.22582G>A (p.Asp7528Asn)
|
|
|
NM_182961.4(SYNE1):c.22589+4G>A
|
|
|
NM_182961.4(SYNE1):c.22589+4G>T
|
rs563408259
|
|
NM_182961.4(SYNE1):c.22590-3T>C
|
rs1400330082
|
|
NM_182961.4(SYNE1):c.22592A>T (p.Asp7531Val)
|
rs2153409793
|
|
NM_182961.4(SYNE1):c.22664G>A (p.Arg7555Gln)
|
|
|
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe)
|
rs760818352
|
|
NM_182961.4(SYNE1):c.22673T>C (p.Ile7558Thr)
|
|
|
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His)
|
rs768489386
|
|
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala)
|
rs775028308
|
|
NM_182961.4(SYNE1):c.22726C>T (p.Arg7576Cys)
|
|
|
NM_182961.4(SYNE1):c.22727G>A (p.Arg7576His)
|
|
|
NM_182961.4(SYNE1):c.22777G>T (p.Val7593Phe)
|
rs2076839550
|
|
NM_182961.4(SYNE1):c.22790T>G (p.Leu7597Arg)
|
rs2153408771
|
|
NM_182961.4(SYNE1):c.22792C>G (p.Gln7598Glu)
|
|
|
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly)
|
rs2153408610
|
|
NM_182961.4(SYNE1):c.22825-3C>A
|
rs2153398590
|
|
NM_182961.4(SYNE1):c.22856G>A (p.Gly7619Asp)
|
rs2153398375
|
|
NM_182961.4(SYNE1):c.22874T>G (p.Val7625Gly)
|
|
|
NM_182961.4(SYNE1):c.22879G>T (p.Ala7627Ser)
|
rs2153398279
|
|
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del)
|
rs1360697609
|
|
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val)
|
rs555792275
|
|
NM_182961.4(SYNE1):c.22924G>A (p.Ala7642Thr)
|
rs776115026
|
|
NM_182961.4(SYNE1):c.22927T>G (p.Leu7643Val)
|
|
|
NM_182961.4(SYNE1):c.22936G>A (p.Glu7646Lys)
|
|
|
NM_182961.4(SYNE1):c.22952A>G (p.Gln7651Arg)
|
rs993798442
|
|
NM_182961.4(SYNE1):c.2296A>G (p.Ile766Val)
|
|
|
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr)
|
rs886061214
|
|
NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met)
|
rs772452257
|
|
NM_182961.4(SYNE1):c.23047G>A (p.Ala7683Thr)
|
rs1161832578
|
|
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu)
|
rs1201437684
|
|
NM_182961.4(SYNE1):c.23059G>C (p.Glu7687Gln)
|
rs768705708
|
|
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr)
|
rs767407271
|
|
NM_182961.4(SYNE1):c.23093A>G (p.Gln7698Arg)
|
rs1452755990
|
|
NM_182961.4(SYNE1):c.23131C>A (p.Gln7711Lys)
|
|
|
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr)
|
rs886061195
|
|
NM_182961.4(SYNE1):c.23170T>C (p.Trp7724Arg)
|
|
|
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg)
|
rs1554518143
|
|
NM_182961.4(SYNE1):c.23222A>C (p.Tyr7741Ser)
|
|
|
NM_182961.4(SYNE1):c.23222A>T (p.Tyr7741Phe)
|
|
|
NM_182961.4(SYNE1):c.23234A>G (p.Asp7745Gly)
|
|
|
NM_182961.4(SYNE1):c.23242T>A (p.Ser7748Thr)
|
rs2153229567
|
|
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
|
|
|
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys)
|
rs138747167
|
|
NM_182961.4(SYNE1):c.23296C>T (p.His7766Tyr)
|
rs886043037
|
|
NM_182961.4(SYNE1):c.2330_2353dup (p.Glu784_Met785insSerProGlnGluGluGlyLysGlu)
|
|
|
NM_182961.4(SYNE1):c.23327G>A (p.Gly7776Asp)
|
|
|
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val)
|
rs200800604
|
|
NM_182961.4(SYNE1):c.23374C>T (p.Leu7792Phe)
|
|
|
NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)
|
|
|
NM_182961.4(SYNE1):c.23407G>A (p.Val7803Ile)
|
|
|
NM_182961.4(SYNE1):c.23419G>A (p.Gly7807Arg)
|
rs2067600593
|
|
NM_182961.4(SYNE1):c.23470G>A (p.Glu7824Lys)
|
|
|
NM_182961.4(SYNE1):c.23548A>T (p.Ser7850Cys)
|
rs2066481563
|
|
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp)
|
rs894257787
|
|
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
|
|
|
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)
|
rs1593187196
|
|
NM_182961.4(SYNE1):c.2360C>T (p.Ala787Val)
|
rs147406318
|
|
NM_182961.4(SYNE1):c.23617A>C (p.Ile7873Leu)
|
|
|
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr)
|
rs1331488136
|
|
NM_182961.4(SYNE1):c.23635A>G (p.Lys7879Glu)
|
rs2153026780
|
|
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg)
|
rs2063159798
|
|
NM_182961.4(SYNE1):c.2367G>C (p.Met789Ile)
|
|
|
NM_182961.4(SYNE1):c.23681T>C (p.Met7894Thr)
|
|
|
NM_182961.4(SYNE1):c.23685C>A (p.Ser7895Arg)
|
rs192734406
|
|
NM_182961.4(SYNE1):c.23694G>T (p.Arg7898Ser)
|
rs1028548586
|
|
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile)
|
rs757122298
|
|
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala)
|
rs2063146847
|
|
NM_182961.4(SYNE1):c.23717C>T (p.Ser7906Leu)
|
rs2153025842
|
|
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr)
|
rs2153025589
|
|
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala)
|
rs746086003
|
|
NM_182961.4(SYNE1):c.23779A>C (p.Asn7927His)
|
rs2063133832
|
|
NM_182961.4(SYNE1):c.23791-6C>G
|
|
|
NM_182961.4(SYNE1):c.23815C>T (p.His7939Tyr)
|
|
|
NM_182961.4(SYNE1):c.23824G>A (p.Gly7942Ser)
|
|
|
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=)
|
rs886061194
|
|
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys)
|
rs1554441768
|
|
NM_182961.4(SYNE1):c.23905A>G (p.Ile7969Val)
|
rs766732148
|
|
NM_182961.4(SYNE1):c.23914G>A (p.Ala7972Thr)
|
rs1000667542
|
|
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg)
|
rs1586408465
|
|
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
|
|
|
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met)
|
rs757366114
|
|
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
|
|
|
NM_182961.4(SYNE1):c.2404T>C (p.Cys802Arg)
|
rs2098714288
|
|
NM_182961.4(SYNE1):c.2405G>A (p.Cys802Tyr)
|
|
|
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala)
|
rs2061108490
|
|
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=)
|
rs2061105872
|
|
NM_182961.4(SYNE1):c.24120G>C (p.Lys8040Asn)
|
rs2152941881
|
|
NM_182961.4(SYNE1):c.24122A>C (p.Lys8041Thr)
|
rs2152941858
|
|
NM_182961.4(SYNE1):c.24130-3T>C
|
|
|
NM_182961.4(SYNE1):c.24160A>T (p.Thr8054Ser)
|
|
|
NM_182961.4(SYNE1):c.24191G>T (p.Arg8064Leu)
|
|
|
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His)
|
rs201956180
|
|
NM_182961.4(SYNE1):c.24232C>G (p.Leu8078Val)
|
|
|
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=)
|
rs886061193
|
|
NM_182961.4(SYNE1):c.24263G>A (p.Arg8088Lys)
|
|
|
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)
|
rs119103246
|
|
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu)
|
rs1563054108
|
|
NM_182961.4(SYNE1):c.24328C>T (p.Arg8110Cys)
|
rs749473816
|
|
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser)
|
rs886061192
|
|
NM_182961.4(SYNE1):c.2436G>C (p.Gln812His)
|
|
|
NM_182961.4(SYNE1):c.24373A>C (p.Thr8125Pro)
|
rs2152915749
|
|
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu)
|
rs2060437692
|
|
NM_182961.4(SYNE1):c.24433A>G (p.Lys8145Glu)
|
|
|
NM_182961.4(SYNE1):c.24450+8A>G
|
|
|
NM_182961.4(SYNE1):c.24462G>C (p.Gln8154His)
|
|
|
NM_182961.4(SYNE1):c.2446C>A (p.Pro816Thr)
|
rs2098714101
|
|
NM_182961.4(SYNE1):c.2447C>T (p.Pro816Leu)
|
|
|
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp)
|
rs36215251
|
|
NM_182961.4(SYNE1):c.24497T>C (p.Ile8166Thr)
|
rs201904925
|
|
NM_182961.4(SYNE1):c.24503C>A (p.Ala8168Asp)
|
rs1297857077
|
|
NM_182961.4(SYNE1):c.24551T>C (p.Ile8184Thr)
|
rs1344598258
|
|
NM_182961.4(SYNE1):c.24555C>G (p.Ile8185Met)
|
rs201799566
|
|
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)
|
rs143900928
|
|
NM_182961.4(SYNE1):c.24664C>G (p.Leu8222Val)
|
rs2152881730
|
|
NM_182961.4(SYNE1):c.24673A>G (p.Arg8225Gly)
|
rs759109611
|
|
NM_182961.4(SYNE1):c.24675G>T (p.Arg8225Ser)
|
|
|
NM_182961.4(SYNE1):c.24679C>A (p.Leu8227Met)
|
|
|
NM_182961.4(SYNE1):c.24683A>G (p.Glu8228Gly)
|
|
|
NM_182961.4(SYNE1):c.24694T>C (p.Ser8232Pro)
|
|
|
NM_182961.4(SYNE1):c.24707C>T (p.Ser8236Leu)
|
|
|
NM_182961.4(SYNE1):c.24709G>T (p.Asp8237Tyr)
|
rs2152881229
|
|
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala)
|
rs952705892
|
|
NM_182961.4(SYNE1):c.2477C>T (p.Ser826Phe)
|
|
|
NM_182961.4(SYNE1):c.24805C>T (p.Arg8269Trp)
|
|
|
NM_182961.4(SYNE1):c.24806G>A (p.Arg8269Gln)
|
|
|
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu)
|
rs148367376
|
|
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met)
|
rs200663180
|
|
NM_182961.4(SYNE1):c.24837C>G (p.Asp8279Glu)
|
|
|
NM_182961.4(SYNE1):c.24875G>A (p.Ser8292Asn)
|
rs754883031
|
|
NM_182961.4(SYNE1):c.24892G>A (p.Ala8298Thr)
|
|
|
NM_182961.4(SYNE1):c.24929G>A (p.Gly8310Asp)
|
rs1253089660
|
|
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe)
|
rs1554420700
|
|
NM_182961.4(SYNE1):c.24989C>T (p.Ala8330Val)
|
|
|
NM_182961.4(SYNE1):c.24992T>C (p.Leu8331Pro)
|
rs532387179
|
|
NM_182961.4(SYNE1):c.25014_25015delinsCT (p.Gly8339Cys)
|
rs2152832436
|
|
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
|
|
|
NM_182961.4(SYNE1):c.25037_25038delinsTC (p.Arg8346Leu)
|
|
|
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu)
|
rs886044213
|
|
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His)
|
rs766534980
|
|
NM_182961.4(SYNE1):c.25091C>G (p.Pro8364Arg)
|
|
|
NM_182961.4(SYNE1):c.25115G>T (p.Gly8372Val)
|
|
|
NM_182961.4(SYNE1):c.25120-3C>T
|
rs749447242
|
|
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=)
|
rs576598951
|
|
NM_182961.4(SYNE1):c.25139G>T (p.Cys8380Phe)
|
|
|
NM_182961.4(SYNE1):c.25150A>G (p.Ile8384Val)
|
rs1421570389
|
|
NM_182961.4(SYNE1):c.25151T>C (p.Ile8384Thr)
|
|
|
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr)
|
rs1466825112
|
|
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu)
|
rs119103247
|
|
NM_182961.4(SYNE1):c.25192GAG[1] (p.Glu8399del)
|
|
|
NM_182961.4(SYNE1):c.25193A>G (p.Glu8398Gly)
|
rs2152810960
|
|
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn)
|
rs769976238
|
|
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile)
|
rs769976238
|
|
NM_182961.4(SYNE1):c.25231G>C (p.Glu8411Gln)
|
rs371211999
|
|
NM_182961.4(SYNE1):c.25234A>G (p.Thr8412Ala)
|
|
|
NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln)
|
rs556231915
|
|
NM_182961.4(SYNE1):c.25267C>T (p.Leu8423Phe)
|
|
|
NM_182961.4(SYNE1):c.25375A>C (p.Thr8459Pro)
|
rs754937504
|
|
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
|
|
|
NM_182961.4(SYNE1):c.25386G>C (p.Glu8462Asp)
|
|
|
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys)
|
rs754577367
|
|
NM_182961.4(SYNE1):c.25439T>A (p.Leu8480His)
|
rs2152799197
|
|
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His)
|
rs886061191
|
|
NM_182961.4(SYNE1):c.25498C>G (p.Leu8500Val)
|
|
|
NM_182961.4(SYNE1):c.25504A>G (p.Ile8502Val)
|
rs2057180997
|
|
NM_182961.4(SYNE1):c.25528A>C (p.Thr8510Pro)
|
|
|
NM_182961.4(SYNE1):c.25529C>T (p.Thr8510Ile)
|
rs1404247560
|
|
NM_182961.4(SYNE1):c.25589G>A (p.Arg8530His)
|
|
|
NM_182961.4(SYNE1):c.25591T>A (p.Trp8531Arg)
|
|
|
NM_182961.4(SYNE1):c.25598G>A (p.Arg8533Gln)
|
rs1420121296
|
|
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
|
|
|
NM_182961.4(SYNE1):c.25634T>G (p.Leu8545Arg)
|
|
|
NM_182961.4(SYNE1):c.25679A>G (p.His8560Arg)
|
rs1164254591
|
|
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val)
|
rs1260198851
|
|
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu)
|
rs1562922141
|
|
NM_182961.4(SYNE1):c.25747C>G (p.Leu8583Val)
|
|
|
NM_182961.4(SYNE1):c.25750G>A (p.Asp8584Asn)
|
|
|
NM_182961.4(SYNE1):c.25751A>G (p.Asp8584Gly)
|
|
|
NM_182961.4(SYNE1):c.25756G>A (p.Glu8586Lys)
|
|
|
NM_182961.4(SYNE1):c.25776C>A (p.His8592Gln)
|
rs544950546
|
|
NM_182961.4(SYNE1):c.25788+6A>G
|
|
|
NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)
|
|
|
NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)
|
|
|
NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro)
|
rs2152720317
|
|
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His)
|
rs756313747
|
|
NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)
|
|
|
NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)
|
|
|
NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)
|
|
|
NM_182961.4(SYNE1):c.2591A>G (p.Asn864Ser)
|
rs13210845
|
|
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser)
|
rs1192925822
|
|
NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)
|
|
|
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr)
|
rs1554376325
|
|
NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu)
|
rs2152705585
|
|
NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)
|
|
|
NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)
|
|
|
NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)
|
|
|
NM_182961.4(SYNE1):c.26153+6T>C
|
|
|
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)
|
rs1585315718
|
|
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu)
|
rs1554349162
|
|
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)
|
rs2295192
|
|
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr)
|
rs1258213221
|
|
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)
|
rs1310428962
|
|
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)
|
rs983040762
|
|
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
|
|
|
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)
|
rs2051624339
|
|
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)
|
rs567376316
|
|
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)
|
rs567376316
|
|
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)
|
rs754932611
|
|
NM_182961.4(SYNE1):c.2684C>G (p.Thr895Arg)
|
rs373633207
|
|
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met)
|
rs373633207
|
|
NM_182961.4(SYNE1):c.2688G>C (p.Arg896Ser)
|
|
|
NM_182961.4(SYNE1):c.2728-14T>C
|
|
|
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys)
|
rs141214076
|
|
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val)
|
rs756151309
|
|
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr)
|
rs746476950
|
|
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
|
|
|
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
|
|
|
NM_182961.4(SYNE1):c.2798A>G (p.Glu933Gly)
|
rs2098689694
|
|
NM_182961.4(SYNE1):c.2810C>A (p.Ala937Glu)
|
|
|
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
|
|
|
NM_182961.4(SYNE1):c.2821A>G (p.Lys941Glu)
|
rs2154257288
|
|
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
|
|
|
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
|
|
|
NM_182961.4(SYNE1):c.2846G>A (p.Gly949Asp)
|
|
|
NM_182961.4(SYNE1):c.2869G>C (p.Glu957Gln)
|
rs2154257153
|
|
NM_182961.4(SYNE1):c.2974C>A (p.Gln992Lys)
|
|
|
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro)
|
rs1564137172
|
|
NM_182961.4(SYNE1):c.2998G>A (p.Ala1000Thr)
|
rs771446969
|
|
NM_182961.4(SYNE1):c.299A>C (p.Glu100Ala)
|
|
|
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=)
|
rs2098645628
|
|
NM_182961.4(SYNE1):c.3077T>C (p.Val1026Ala)
|
rs776586157
|
|
NM_182961.4(SYNE1):c.3083A>G (p.Lys1028Arg)
|
rs369619658
|
|
NM_182961.4(SYNE1):c.309+3A>G
|
rs2099133351
|
|
NM_182961.4(SYNE1):c.309+5G>C
|
rs2154348308
|
|
NM_182961.4(SYNE1):c.3090G>T (p.Arg1030Ser)
|
rs925892033
|
|
NM_182961.4(SYNE1):c.310-482C>T
|
rs561359644
|
|
NM_182961.4(SYNE1):c.310-7T>A
|
rs1341089745
|
|
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys)
|
rs545152377
|
|
NM_182961.4(SYNE1):c.3180G>C (p.Glu1060Asp)
|
|
|
NM_182961.4(SYNE1):c.3208C>A (p.Pro1070Thr)
|
|
|
NM_182961.4(SYNE1):c.3211C>T (p.His1071Tyr)
|
|
|
NM_182961.4(SYNE1):c.3217C>T (p.Leu1073Phe)
|
|
|
NM_182961.4(SYNE1):c.3230G>C (p.Arg1077Thr)
|
|
|
NM_182961.4(SYNE1):c.3230G>T (p.Arg1077Met)
|
|
|
NM_182961.4(SYNE1):c.323A>G (p.Asn108Ser)
|
|
|
NM_182961.4(SYNE1):c.3254G>A (p.Cys1085Tyr)
|
|
|
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met)
|
rs1592962615
|
|
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe)
|
rs2098641244
|
|
NM_182961.4(SYNE1):c.3304C>T (p.His1102Tyr)
|
rs2098640852
|
|
NM_182961.4(SYNE1):c.3319_3320delinsAT (p.Glu1107Met)
|
|
|
NM_182961.4(SYNE1):c.3321G>T (p.Glu1107Asp)
|
rs2154250248
|
|
NM_182961.4(SYNE1):c.3341G>A (p.Ser1114Asn)
|
rs377684975
|
|
NM_182961.4(SYNE1):c.3376T>C (p.Trp1126Arg)
|
|
|
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser)
|
rs1194769025
|
|
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly)
|
rs886044019
|
|
NM_182961.4(SYNE1):c.3419T>C (p.Ile1140Thr)
|
rs1352916426
|
|
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu)
|
rs1592939078
|
|
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu)
|
rs201354687
|
|
NM_182961.4(SYNE1):c.3504+5G>C
|
rs1398879746
|
|
NM_182961.4(SYNE1):c.3549G>T (p.Trp1183Cys)
|
rs2098603484
|
|
NM_182961.4(SYNE1):c.3556T>C (p.Ser1186Pro)
|
|
|
NM_182961.4(SYNE1):c.3630A>T (p.Leu1210Phe)
|
|
|
NM_182961.4(SYNE1):c.3649C>A (p.Leu1217Ile)
|
rs2154244956
|
|
NM_182961.4(SYNE1):c.3650T>C (p.Leu1217Pro)
|
|
|
NM_182961.4(SYNE1):c.3670-14del
|
rs111322292
|
|
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly)
|
rs1564070652
|
|
NM_182961.4(SYNE1):c.3720A>G (p.Ile1240Met)
|
|
|
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=)
|
rs1041302788
|
|
NM_182961.4(SYNE1):c.3736G>C (p.Glu1246Gln)
|
|
|
NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys)
|
rs775456029
|
|
NM_182961.4(SYNE1):c.3769G>A (p.Glu1257Lys)
|
|
|
NM_182961.4(SYNE1):c.3772C>A (p.Gln1258Lys)
|
|
|
NM_182961.4(SYNE1):c.3803T>A (p.Leu1268Gln)
|
rs2154239333
|
|
NM_182961.4(SYNE1):c.3869G>C (p.Arg1290Thr)
|
|
|
NM_182961.4(SYNE1):c.3873T>G (p.Asp1291Glu)
|
|
|
NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
|
|
|
NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly)
|
rs2099690291
|
|
NM_182961.4(SYNE1):c.3911G>T (p.Gly1304Val)
|
|
|
NM_182961.4(SYNE1):c.3913G>A (p.Gly1305Arg)
|
rs1350747356
|
|
NM_182961.4(SYNE1):c.3914G>T (p.Gly1305Val)
|
|
|
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro)
|
rs1417438989
|
|
NM_182961.4(SYNE1):c.3926G>C (p.Arg1309Pro)
|
|
|
NM_182961.4(SYNE1):c.3956G>A (p.Ser1319Asn)
|
|
|
NM_182961.4(SYNE1):c.3958A>G (p.Thr1320Ala)
|
|
|
NM_182961.4(SYNE1):c.3971T>G (p.Leu1324Arg)
|
rs911005692
|
|
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His)
|
rs371842938
|
|
NM_182961.4(SYNE1):c.3977G>T (p.Arg1326Leu)
|
rs371842938
|
|
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp)
|
rs1465224604
|
|
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
|
|
|
NM_182961.4(SYNE1):c.4008+5G>T
|
rs1350714036
|
|
NM_182961.4(SYNE1):c.403-10T>G
|
rs886061219
|
|
NM_182961.4(SYNE1):c.4063T>C (p.Tyr1355His)
|
|
|
NM_182961.4(SYNE1):c.4103G>C (p.Ser1368Thr)
|
rs998116525
|
|
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn)
|
rs1554707111
|
|
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro)
|
rs1554696981
|
|
NM_182961.4(SYNE1):c.4163G>A (p.Arg1388Gln)
|
|
|
NM_182961.4(SYNE1):c.4183C>A (p.Gln1395Lys)
|
rs2098471423
|
|
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln)
|
rs149918889
|
|
NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
|
|
|
NM_182961.4(SYNE1):c.4292A>G (p.Glu1431Gly)
|
rs779044367
|
|
NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys)
|
rs139798419
|
|
NM_182961.4(SYNE1):c.4313T>A (p.Ile1438Asn)
|
rs886044260
|
|
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile)
|
rs1245972676
|
|
NM_182961.4(SYNE1):c.4373T>C (p.Leu1458Pro)
|
rs2154210873
|
|
NM_182961.4(SYNE1):c.4378G>C (p.Val1460Leu)
|
|
|
NM_182961.4(SYNE1):c.4378G>T (p.Val1460Phe)
|
|
|
NM_182961.4(SYNE1):c.4388C>G (p.Thr1463Ser)
|
rs2154210826
|
|
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr)
|
rs1350630909
|
|
NM_182961.4(SYNE1):c.4444C>G (p.Gln1482Glu)
|
|
|
NM_182961.4(SYNE1):c.4449C>G (p.Ile1483Met)
|
|
|
NM_182961.4(SYNE1):c.4461+6C>T
|
rs776194459
|
|
NM_182961.4(SYNE1):c.4462G>A (p.Val1488Ile)
|
rs2154201681
|
|
NM_182961.4(SYNE1):c.4523_4524insTCA (p.Ala1507_Gln1508insHis)
|
rs2098420279
|
|
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu)
|
rs1554687302
|
|
NM_182961.4(SYNE1):c.4535A>G (p.Gln1512Arg)
|
rs141597053
|
|
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=)
|
rs776593228
|
|
NM_182961.4(SYNE1):c.4603G>A (p.Glu1535Lys)
|
rs1209224800
|
|
NM_182961.4(SYNE1):c.4619C>A (p.Ala1540Glu)
|
rs1187109031
|
|
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr)
|
rs1487588055
|
|
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln)
|
rs1295935097
|
|
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His)
|
rs144533000
|
|
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val)
|
rs1554686616
|
|
NM_182961.4(SYNE1):c.4680C>A (p.Asn1560Lys)
|
|
|
NM_182961.4(SYNE1):c.4695G>T (p.Gln1565His)
|
rs2154201077
|
|
NM_182961.4(SYNE1):c.4703T>C (p.Val1568Ala)
|
rs2154201070
|
|
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu)
|
rs2098415660
|
|
NM_182961.4(SYNE1):c.4744T>A (p.Cys1582Ser)
|
rs1394715779
|
|
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala)
|
rs749571011
|
|
NM_182961.4(SYNE1):c.4765T>C (p.Tyr1589His)
|
|
|
NM_182961.4(SYNE1):c.4787T>A (p.Met1596Lys)
|
|
|
NM_182961.4(SYNE1):c.4789-3T>C
|
rs1228194784
|
|
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser)
|
rs886061218
|
|
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)
|
rs566004273
|
|
NM_182961.4(SYNE1):c.4892C>T (p.Ala1631Val)
|
rs1268913905
|
|
NM_182961.4(SYNE1):c.4909G>C (p.Glu1637Gln)
|
|
|
NM_182961.4(SYNE1):c.4928C>G (p.Ala1643Gly)
|
|
|
NM_182961.4(SYNE1):c.4981G>A (p.Glu1661Lys)
|
rs2154197911
|
|
NM_182961.4(SYNE1):c.5018G>C (p.Arg1673Pro)
|
rs749115727
|
|
NM_182961.4(SYNE1):c.5026G>T (p.Ala1676Ser)
|
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_182961.4(SYNE1):c.509G>T (p.Arg170Leu)
|
rs779239788
|
|
NM_182961.4(SYNE1):c.5105T>C (p.Leu1702Pro)
|
|
|
NM_182961.4(SYNE1):c.5138A>T (p.Tyr1713Phe)
|
rs2098338003
|
|
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val)
|
rs202081505
|
|
NM_182961.4(SYNE1):c.514G>T (p.Val172Leu)
|
|
|
NM_182961.4(SYNE1):c.5163A>C (p.Glu1721Asp)
|
|
|
NM_182961.4(SYNE1):c.5165C>T (p.Ser1722Leu)
|
|
|
NM_182961.4(SYNE1):c.521C>G (p.Thr174Ser)
|
|
|
NM_182961.4(SYNE1):c.5260A>G (p.Asn1754Asp)
|
rs2154194638
|
|
NM_182961.4(SYNE1):c.5287G>A (p.Val1763Met)
|
|
|
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=)
|
rs2098221960
|
|
NM_182961.4(SYNE1):c.5414G>A (p.Arg1805Gln)
|
rs749200824
|
|
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu)
|
rs1289357494
|
|
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp)
|
rs763296949
|
|
NM_182961.4(SYNE1):c.5539G>A (p.Glu1847Lys)
|
rs778264930
|
|
NM_182961.4(SYNE1):c.553T>C (p.Leu185=)
|
rs2099078168
|
|
NM_182961.4(SYNE1):c.554T>C (p.Leu185Ser)
|
|
|
NM_182961.4(SYNE1):c.5563_5564delinsAT (p.Glu1855Met)
|
rs2154182549
|
|
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys)
|
rs376693048
|
|
NM_182961.4(SYNE1):c.5658G>C (p.Gln1886His)
|
rs1305356670
|
|
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly)
|
rs757761843
|
|
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg)
|
rs989623011
|
|
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr)
|
rs917922270
|
|
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly)
|
rs2154182301
|
|
NM_182961.4(SYNE1):c.5734G>A (p.Ala1912Thr)
|
|
|
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
|
rs555846215
|
|
NM_182961.4(SYNE1):c.5798C>T (p.Ala1933Val)
|
rs2154182197
|
|
NM_182961.4(SYNE1):c.5809C>A (p.Leu1937Met)
|
rs1384241452
|
|
NM_182961.4(SYNE1):c.580A>G (p.Lys194Glu)
|
|
|
NM_182961.4(SYNE1):c.581+3A>T
|
|
|
NM_182961.4(SYNE1):c.581A>G (p.Lys194Arg)
|
rs2099078036
|
|
NM_182961.4(SYNE1):c.582-12T>C
|
|
|
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=)
|
rs773819434
|
|
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly)
|
rs963256304
|
|
NM_182961.4(SYNE1):c.5834G>A (p.Arg1945Lys)
|
|
|
NM_182961.4(SYNE1):c.5848G>A (p.Ala1950Thr)
|
|
|
NM_182961.4(SYNE1):c.5852C>T (p.Thr1951Met)
|
|
|
NM_182961.4(SYNE1):c.5951A>G (p.Gln1984Arg)
|
|
|
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln)
|
rs2098157118
|
|
NM_182961.4(SYNE1):c.5966A>G (p.Glu1989Gly)
|
rs762574786
|
|
NM_182961.4(SYNE1):c.5981T>C (p.Ile1994Thr)
|
|
|
NM_182961.4(SYNE1):c.5990T>C (p.Ile1997Thr)
|
|
|
NM_182961.4(SYNE1):c.6014G>A (p.Arg2005Gln)
|
|
|
NM_182961.4(SYNE1):c.6014G>T (p.Arg2005Leu)
|
|
|
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro)
|
rs1199419170
|
|
NM_182961.4(SYNE1):c.6037G>A (p.Ala2013Thr)
|
|
|
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
|
|
|
NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)
|
|
|
NM_182961.4(SYNE1):c.6145G>A (p.Asp2049Asn)
|
rs774941465
|
|
NM_182961.4(SYNE1):c.6157G>T (p.Ala2053Ser)
|
rs2154176994
|
|
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
|
|
|
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu)
|
rs542032376
|
|
NM_182961.4(SYNE1):c.6191A>G (p.Glu2064Gly)
|
|
|
NM_182961.4(SYNE1):c.6193G>C (p.Val2065Leu)
|
|
|
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
|
|
|
NM_182961.4(SYNE1):c.6201G>C (p.Trp2067Cys)
|
rs2154176931
|
|
NM_182961.4(SYNE1):c.6202G>A (p.Asp2068Asn)
|
|
|
NM_182961.4(SYNE1):c.6231T>G (p.Asn2077Lys)
|
rs2097980458
|
|
NM_182961.4(SYNE1):c.6275A>G (p.Gln2092Arg)
|
|
|
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
|
|
|
NM_182961.4(SYNE1):c.6292G>C (p.Val2098Leu)
|
|
|
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile)
|
rs760835706
|
|
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
|
|
|
NM_182961.4(SYNE1):c.6349G>T (p.Asp2117Tyr)
|
rs200640405
|
|
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
|
|
|
NM_182961.4(SYNE1):c.6370G>T (p.Ala2124Ser)
|
|
|
NM_182961.4(SYNE1):c.6398A>G (p.Asn2133Ser)
|
|
|
NM_182961.4(SYNE1):c.6415C>A (p.Gln2139Lys)
|
|
|
NM_182961.4(SYNE1):c.6421G>T (p.Asp2141Tyr)
|
|
|
NM_182961.4(SYNE1):c.6444A>C (p.Lys2148Asn)
|
|
|
NM_182961.4(SYNE1):c.6461C>T (p.Ser2154Phe)
|
|
|
NM_182961.4(SYNE1):c.6478C>T (p.His2160Tyr)
|
|
|
NM_182961.4(SYNE1):c.647T>C (p.Val216Ala)
|
rs1564513288
|
|
NM_182961.4(SYNE1):c.6482G>A (p.Ser2161Asn)
|
|
|
NM_182961.4(SYNE1):c.6526G>A (p.Asp2176Asn)
|
|
|
NM_182961.4(SYNE1):c.6541-12T>A
|
rs2097913765
|
|
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly)
|
rs886061211
|
|
NM_182961.4(SYNE1):c.658A>C (p.Ile220Leu)
|
rs146053885
|
|
NM_182961.4(SYNE1):c.661C>A (p.Arg221=)
|
rs750266004
|
|
NM_182961.4(SYNE1):c.6636G>T (p.Trp2212Cys)
|
rs2154165420
|
|
NM_182961.4(SYNE1):c.6646T>A (p.Cys2216Ser)
|
|
|
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
|
rs2099051828
|
|
NM_182961.4(SYNE1):c.6658A>G (p.Met2220Val)
|
rs2097912504
|
|
NM_182961.4(SYNE1):c.665C>T (p.Pro222Leu)
|
|
|
NM_182961.4(SYNE1):c.6661G>A (p.Ala2221Thr)
|
rs2154165359
|
|
NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)
|
|
|
NM_182961.4(SYNE1):c.6719T>C (p.Phe2240Ser)
|
|
|
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
|
|
|
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu)
|
rs1374881204
|
|
NM_182961.4(SYNE1):c.68-14C>A
|
rs554675581
|
|
NM_182961.4(SYNE1):c.6811C>G (p.Pro2271Ala)
|
|
|
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe)
|
rs867285350
|
|
NM_182961.4(SYNE1):c.6895C>G (p.Leu2299Val)
|
|
|
NM_182961.4(SYNE1):c.6900G>T (p.Lys2300Asn)
|
|
|
NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)
|
|
|
NM_182961.4(SYNE1):c.6913C>A (p.Gln2305Lys)
|
|
|
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala)
|
rs1384232957
|
|
NM_182961.4(SYNE1):c.6937A>G (p.Ile2313Val)
|
rs2154150998
|
|
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly)
|
rs1395736433
|
|
NM_182961.4(SYNE1):c.6959T>C (p.Phe2320Ser)
|
rs2097810439
|
|
NM_182961.4(SYNE1):c.6975A>T (p.Glu2325Asp)
|
|
|
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val)
|
rs1250755900
|
|
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr)
|
rs1317403604
|
|
NM_182961.4(SYNE1):c.69T>A (p.Asp23Glu)
|
rs1564735123
|
|
NM_182961.4(SYNE1):c.7023A>T (p.Lys2341Asn)
|
|
|
NM_182961.4(SYNE1):c.7030-14C>T
|
rs1257361080
|
|
NM_182961.4(SYNE1):c.707G>A (p.Arg236Gln)
|
|
|
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser)
|
rs776339735
|
|
NM_182961.4(SYNE1):c.7109A>G (p.Tyr2370Cys)
|
|
|
NM_182961.4(SYNE1):c.7141G>T (p.Ala2381Ser)
|
rs766789322
|
|
NM_182961.4(SYNE1):c.7156A>T (p.Ile2386Leu)
|
|
|
NM_182961.4(SYNE1):c.7165C>T (p.His2389Tyr)
|
|
|
NM_182961.4(SYNE1):c.7181A>C (p.Gln2394Pro)
|
rs1244195756
|
|
NM_182961.4(SYNE1):c.7201G>A (p.Ala2401Thr)
|
rs780924006
|
|
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
|
|
|
NM_182961.4(SYNE1):c.7280C>T (p.Ala2427Val)
|
rs2097770762
|
|
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly)
|
rs370082646
|
|
NM_182961.4(SYNE1):c.7312G>T (p.Asp2438Tyr)
|
|
|
NM_182961.4(SYNE1):c.7334A>C (p.Lys2445Thr)
|
rs2154145830
|
|
NM_182961.4(SYNE1):c.7335G>C (p.Lys2445Asn)
|
rs770329883
|
|
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe)
|
rs757562714
|
|
NM_182961.4(SYNE1):c.7392T>G (p.Asp2464Glu)
|
|
|
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
|
|
|
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu)
|
rs1384323646
|
|
NM_182961.4(SYNE1):c.7406A>G (p.Glu2469Gly)
|
rs371796151
|
|
NM_182961.4(SYNE1):c.742A>G (p.Thr248Ala)
|
rs2154331462
|
|
NM_182961.4(SYNE1):c.7462C>G (p.Gln2488Glu)
|
rs756083446
|
|
NM_182961.4(SYNE1):c.7502A>C (p.Lys2501Thr)
|
|
|
NM_182961.4(SYNE1):c.7550T>A (p.Leu2517His)
|
|
|
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met)
|
rs550027519
|
|
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His)
|
rs2097719630
|
|
NM_182961.4(SYNE1):c.7666G>A (p.Glu2556Lys)
|
rs2154141021
|
|
NM_182961.4(SYNE1):c.7672C>A (p.His2558Asn)
|
rs2097719253
|
|
NM_182961.4(SYNE1):c.7685T>C (p.Met2562Thr)
|
|
|
NM_182961.4(SYNE1):c.7709C>G (p.Ala2570Gly)
|
|
|
NM_182961.4(SYNE1):c.7713-11C>T
|
rs201131946
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT
|
rs764324594
|
|
NM_182961.4(SYNE1):c.7713-18_7713-13dup
|
rs756232172
|
|
NM_182961.4(SYNE1):c.7713-19_7713-13dup
|
rs756232172
|
|
NM_182961.4(SYNE1):c.7724A>T (p.Asp2575Val)
|
rs1382595953
|
|
NM_182961.4(SYNE1):c.7754G>C (p.Ser2585Thr)
|
|
|
NM_182961.4(SYNE1):c.7778A>T (p.Gln2593Leu)
|
rs761902124
|
|
NM_182961.4(SYNE1):c.7781A>G (p.Glu2594Gly)
|
rs1591742558
|
|
NM_182961.4(SYNE1):c.7801C>G (p.Leu2601Val)
|
|
|
NM_182961.4(SYNE1):c.7814A>G (p.His2605Arg)
|
rs2097627280
|
|
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
|
|
|
NM_182961.4(SYNE1):c.7858C>A (p.Gln2620Lys)
|
|
|
NM_182961.4(SYNE1):c.7870C>G (p.Gln2624Glu)
|
|
|
NM_182961.4(SYNE1):c.7878C>A (p.His2626Gln)
|
|
|
NM_182961.4(SYNE1):c.7885C>G (p.Leu2629Val)
|
|
|
NM_182961.4(SYNE1):c.7946G>C (p.Cys2649Ser)
|
|
|
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys)
|
rs147040672
|
|
NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln)
|
rs370644295
|
|
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)
|
rs577888458
|
|
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg)
|
rs2154133685
|
|
NM_182961.4(SYNE1):c.8005-7_8005-6insA
|
|
|
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val)
|
rs1563634104
|
|
NM_182961.4(SYNE1):c.8051C>T (p.Ala2684Val)
|
|
|
NM_182961.4(SYNE1):c.8063G>A (p.Gly2688Glu)
|
|
|
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys)
|
rs766019755
|
|
NM_182961.4(SYNE1):c.8065G>C (p.Glu2689Gln)
|
|
|
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro)
|
rs1591716331
|
|
NM_182961.4(SYNE1):c.8098C>G (p.Gln2700Glu)
|
rs2097590125
|
|
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp)
|
rs886061208
|
|
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
|
|
|
NM_182961.4(SYNE1):c.8151C>G (p.Ile2717Met)
|
|
|
NM_182961.4(SYNE1):c.8152A>G (p.Met2718Val)
|
rs765054617
|
|
NM_182961.4(SYNE1):c.8204G>T (p.Trp2735Leu)
|
|
|
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly)
|
rs886044469
|
|
NM_182961.4(SYNE1):c.821A>G (p.Tyr274Cys)
|
rs2099036274
|
|
NM_182961.4(SYNE1):c.8248G>A (p.Glu2750Lys)
|
|
|
NM_182961.4(SYNE1):c.8276C>T (p.Pro2759Leu)
|
rs1438857220
|
|
NM_182961.4(SYNE1):c.8285C>A (p.Pro2762Gln)
|
|
|
NM_182961.4(SYNE1):c.8325C>A (p.His2775Gln)
|
rs770073509
|
|
NM_182961.4(SYNE1):c.832T>A (p.Phe278Ile)
|
|
|
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
|
|
|
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
|
|
|
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly)
|
rs1554878579
|
|
NM_182961.4(SYNE1):c.8470A>T (p.Ile2824Leu)
|
|
|
NM_182961.4(SYNE1):c.8487+6T>C
|
rs2097536510
|
|
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys)
|
rs577620830
|
|
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
|
|
|
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
|
|
|
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
|
|
|
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly)
|
rs757720748
|
|
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
|
|
|
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe)
|
rs2097516831
|
|
NM_182961.4(SYNE1):c.8652+3C>T
|
|
|
NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)
|
|
|
NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val)
|
rs1184722528
|
|
NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)
|
|
|
NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp)
|
rs576979843
|
|
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
|
|
|
NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)
|
|
|
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly)
|
rs372633466
|
|
NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys)
|
rs372633466
|
|
NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)
|
|
|
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr)
|
rs2154115485
|
|
NM_182961.4(SYNE1):c.888+4G>A
|
rs749258298
|
|
NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu)
|
rs2097406538
|
|
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp)
|
rs570962334
|
|
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
|
|
|
NM_182961.4(SYNE1):c.892A>G (p.Ile298Val)
|
rs2154319036
|
|
NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)
|
|
|
NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)
|
|
|
NM_182961.4(SYNE1):c.898C>T (p.Pro300Ser)
|
|
|
NM_182961.4(SYNE1):c.9009+5G>T
|
rs1252397404
|
|
NM_182961.4(SYNE1):c.9016C>G (p.Leu3006Val)
|
|
|
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr)
|
rs910446340
|
|
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val)
|
rs1591451162
|
|
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=)
|
rs369163343
|
|
NM_182961.4(SYNE1):c.9083G>A (p.Arg3028Gln)
|
|
|
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser)
|
rs1554580101
|
|
NM_182961.4(SYNE1):c.9160G>A (p.Ala3054Thr)
|
rs2154103548
|
|
NM_182961.4(SYNE1):c.916G>A (p.Ala306Thr)
|
|
|
NM_182961.4(SYNE1):c.9170G>T (p.Gly3057Val)
|
rs761071366
|
|
NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)
|
|
|
NM_182961.4(SYNE1):c.9209G>A (p.Arg3070Gln)
|
|
|
NM_182961.4(SYNE1):c.9214G>A (p.Ala3072Thr)
|
|
|
NM_182961.4(SYNE1):c.9250A>G (p.Lys3084Glu)
|
rs1391282600
|
|
NM_182961.4(SYNE1):c.9289A>G (p.Ile3097Val)
|
rs2154103329
|
|
NM_182961.4(SYNE1):c.9304A>C (p.Thr3102Pro)
|
|
|
NM_182961.4(SYNE1):c.9333G>T (p.Leu3111Phe)
|
|
|
NM_182961.4(SYNE1):c.9337G>C (p.Glu3113Gln)
|
rs2154097171
|
|
NM_182961.4(SYNE1):c.9347A>T (p.Asn3116Ile)
|
|
|
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro)
|
rs1563477104
|
|
NM_182961.4(SYNE1):c.9382G>A (p.Gly3128Arg)
|
|
|
NM_182961.4(SYNE1):c.9389T>A (p.Leu3130His)
|
|
|
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys)
|
rs138481762
|
|
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile)
|
rs1554795128
|
|
NM_182961.4(SYNE1):c.9449C>G (p.Ala3150Gly)
|
|
|
NM_182961.4(SYNE1):c.9469T>C (p.Phe3157Leu)
|
|
|
NM_182961.4(SYNE1):c.946G>A (p.Asp316Asn)
|
rs369574011
|
|
NM_182961.4(SYNE1):c.9484C>T (p.His3162Tyr)
|
|
|
NM_182961.4(SYNE1):c.9494_9495delinsTG (p.Glu3165Val)
|
|
|
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp)
|
rs6913579
|
|
NM_182961.4(SYNE1):c.9514A>G (p.Lys3172Glu)
|
rs2154085901
|
|
NM_182961.4(SYNE1):c.9524T>C (p.Met3175Thr)
|
|
|
NM_182961.4(SYNE1):c.9543T>G (p.Ser3181Arg)
|
|
|
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn)
|
rs1057519421
|
|
NM_182961.4(SYNE1):c.955A>G (p.Ile319Val)
|
|
|
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile)
|
rs1563437567
|
|
NM_182961.4(SYNE1):c.9586G>A (p.Val3196Ile)
|
|
|
NM_182961.4(SYNE1):c.9596G>T (p.Ser3199Ile)
|
rs768692140
|
|
NM_182961.4(SYNE1):c.9634G>A (p.Glu3212Lys)
|
|
|
NM_182961.4(SYNE1):c.9634G>C (p.Glu3212Gln)
|
rs751257864
|
|
NM_182961.4(SYNE1):c.9649C>A (p.Gln3217Lys)
|
rs2154085638
|
|
NM_182961.4(SYNE1):c.9670C>G (p.His3224Asp)
|
|
|
NM_182961.4(SYNE1):c.9676T>C (p.Tyr3226His)
|
|
|
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln)
|
rs1024177161
|
|
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser)
|
rs1563432555
|
|
NM_182961.4(SYNE1):c.9695G>A (p.Arg3232Lys)
|
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser)
|
rs753548717
|
|
NM_182961.4(SYNE1):c.9746G>A (p.Ser3249Asn)
|
rs886061206
|
|
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr)
|
rs886061206
|
|
NM_182961.4(SYNE1):c.9821G>A (p.Arg3274Lys)
|
rs2097100149
|
|
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly)
|
rs188684213
|
|
NM_182961.4(SYNE1):c.9847A>T (p.Asn3283Tyr)
|
rs745707616
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
NM_182961.4(SYNE1):c.9925C>A (p.Pro3309Thr)
|
rs1247321590
|
|
NM_182961.4(SYNE1):c.998A>G (p.Asp333Gly)
|
rs2154300492
|
|
NM_198994.3(TGM6):c.-5T>A
|
rs886056550
|
|
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp)
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rs2122375873
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NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
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NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr)
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rs1265293202
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NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys)
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rs267605859
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NM_198994.3(TGM6):c.1678+11G>T
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rs376838053
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NM_198994.3(TGM6):c.1678+12C>A
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rs1171960882
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NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser)
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rs76002756
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NM_198994.3(TGM6):c.491T>A (p.Ile164Asn)
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NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
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NM_198994.3(TGM6):c.64A>G (p.Thr22Ala)
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rs773079291
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NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
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NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)
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rs766248910
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NM_198994.3(TGM6):c.897del (p.Ser300fs)
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NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr)
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rs748573955
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NM_198994.3(TGM6):c.95T>G (p.Val32Gly)
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rs886056551
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Single allele
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