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_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_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_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_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_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_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_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_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_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_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_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_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_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
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_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
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.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_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_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
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_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_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_018718.3(CEP41):c.*680G>A
|
rs146622910
|
0.00083
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_033064.5(ATCAY):c.*3203G>A
|
rs539627639
|
0.00081
|
NM_018718.3(CEP41):c.*4908G>A
|
rs552988501
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_015272.5(RPGRIP1L):c.*1510G>A
|
rs140374059
|
0.00079
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
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_001134831.2(AHI1):c.*1146T>A
|
rs557989991
|
0.00076
|
NM_006796.3(AFG3L2):c.*379T>A
|
rs150224434
|
0.00073
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
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_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
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_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_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_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_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_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_001195248.2(APTX):c.134-12A>C
|
rs113391831
|
0.00057
|
NM_001378615.1(CC2D2A):c.*45G>C
|
rs372449768
|
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_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
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_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_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_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_001044385.3(TMEM237):c.*1655G>A
|
rs1020619947
|
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.17542-7G>A
|
rs199762799
|
0.00050
|
NM_024411.5(PDYN):c.*231C>G
|
rs565210312
|
0.00049
|
NM_182961.4(SYNE1):c.*191A>G
|
rs567194577
|
0.00049
|
NM_182961.4(SYNE1):c.4461+15C>T
|
rs757969745
|
0.00049
|
NM_006796.3(AFG3L2):c.*221A>G
|
rs886053613
|
0.00048
|
NM_015272.5(RPGRIP1L):c.-62C>T
|
rs562413151
|
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_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_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_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_018718.3(CEP41):c.*3097T>C
|
rs929238589
|
0.00042
|
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)
|
rs150550013
|
0.00042
|
NM_001044385.3(TMEM237):c.*2141C>T
|
rs147652455
|
0.00041
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_015046.7(SETX):c.*1454C>G
|
rs561712582
|
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_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_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.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_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_173500.4(TTBK2):c.-279C>A
|
rs866690514
|
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_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
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_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_000370.3(TTPA):c.*161A>G
|
rs183885151
|
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_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.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_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)
|
rs373973399
|
0.00032
|
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)
|
rs149834738
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
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_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00031
|
NM_001195248.2(APTX):c.*858C>G
|
rs772290850
|
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_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_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_001134831.2(AHI1):c.*793A>G
|
rs191324834
|
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_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_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_001044385.3(TMEM237):c.*987C>T
|
rs568084746
|
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.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
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_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_014053.4(FLVCR1):c.595C>T (p.Leu199Phe)
|
rs41296694
|
0.00026
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
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_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_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_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_182961.4(SYNE1):c.23791-13C>T
|
rs371245873
|
0.00025
|
NM_000370.3(TTPA):c.*326T>A
|
rs529634119
|
0.00024
|
NM_001271696.3(ABCB7):c.*113A>G
|
rs916633787
|
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_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.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_018718.3(CEP41):c.*2226G>A
|
rs115431091
|
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_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_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
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.9807+5C>T
|
rs185350092
|
0.00023
|
NM_000784.4(CYP27A1):c.*195G>C
|
rs886055632
|
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.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_174936.4(PCSK9):c.*950C>T
|
rs72646537
|
0.00022
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001386140.1(MTTP):c.*989T>C
|
rs183510498
|
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_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.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_014053.4(FLVCR1):c.*2189G>A
|
rs183774878
|
0.00020
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
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_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_001386140.1(MTTP):c.799T>C (p.Leu267=)
|
rs7672497
|
0.00019
|
NM_006796.3(AFG3L2):c.*484A>G
|
rs565352114
|
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_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.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.7045C>T (p.Leu2349Phe)
|
rs370016934
|
0.00019
|
NM_182961.4(SYNE1):c.7238-11T>C
|
rs200802315
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
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_033064.5(ATCAY):c.*2289C>T
|
rs1025056968
|
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_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_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.3282C>T (p.Asn1094=)
|
rs145499245
|
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_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.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_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
NM_006796.2(AFG3L2):c.-179C>T
|
rs576218520
|
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.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_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
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_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_033064.5(ATCAY):c.*1154G>A
|
rs528605076
|
0.00016
|
NM_033064.5(ATCAY):c.*728T>C
|
rs371256803
|
0.00016
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
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_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_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
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_001009894.3(RLIG1):c.*594T>C
|
rs376016171
|
0.00014
|
NM_001134831.2(AHI1):c.189+12T>C
|
rs199617785
|
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_001386140.1(MTTP):c.*436A>G
|
rs1450371659
|
0.00014
|
NM_014053.4(FLVCR1):c.*2409C>T
|
rs1015419064
|
0.00014
|
NM_014053.4(FLVCR1):c.*3260T>C
|
rs183392554
|
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.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_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_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.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00014
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
NM_182961.4(SYNE1):c.7029+15A>G
|
rs757201043
|
0.00014
|
NM_198994.3(TGM6):c.632G>A (p.Arg211His)
|
rs192045738
|
0.00014
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367
|
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_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.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_173500.4(TTBK2):c.*536T>C
|
rs902865683
|
0.00013
|
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)
|
rs376463379
|
0.00013
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
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_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser)
|
rs199563573
|
0.00012
|
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=)
|
rs199688524
|
0.00012
|
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr)
|
rs183359461
|
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.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_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_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.15377A>C (p.Glu5126Ala)
|
rs773536890
|
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.9891G>A (p.Thr3297=)
|
rs200222988
|
0.00012
|
NM_000384.3(APOB):c.11466G>A (p.Val3822=)
|
rs755842633
|
0.00011
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)
|
rs368886216
|
0.00011
|
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)
|
rs558572111
|
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.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_015272.5(RPGRIP1L):c.*588A>G
|
rs894081042
|
0.00011
|
NM_016169.4(SUFU):c.*1451C>T
|
rs886046659
|
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_018075.5(ANO10):c.*372G>T
|
rs145489333
|
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_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
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.18999G>C (p.Leu6333Phe)
|
rs141934037
|
0.00011
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
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.9934G>A (p.Asp3312Asn)
|
rs147281213
|
0.00011
|
NM_000370.3(TTPA):c.*1368C>G
|
rs553853197
|
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_001134831.2(AHI1):c.3033A>G (p.Ser1011=)
|
rs372030704
|
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_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_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_014053.4(FLVCR1):c.*2218C>T
|
rs886045939
|
0.00010
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
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_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.422+6C>T
|
rs199678365
|
0.00010
|
NM_022464.5(SIL1):c.724G>A (p.Val242Met)
|
rs545999438
|
0.00010
|
NM_024411.5(PDYN):c.-162A>G
|
rs886056537
|
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.14380C>T (p.Leu4794=)
|
rs138307449
|
0.00010
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
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_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_001134831.2(AHI1):c.400C>T (p.Pro134Ser)
|
rs368077581
|
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_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.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_015272.5(RPGRIP1L):c.*1883C>G
|
rs886052086
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
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_021830.5(TWNK):c.-470G>A
|
rs886046626
|
0.00009
|
NM_024411.4(PDYN):c.-241G>C
|
rs574928545
|
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.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)
|
rs752135269
|
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.20159A>C (p.Glu6720Ala)
|
rs367790193
|
0.00009
|
NM_182961.4(SYNE1):c.21195+12A>G
|
rs200930593
|
0.00009
|
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)
|
rs145494541
|
0.00009
|
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=)
|
rs201537074
|
0.00009
|
NM_182961.4(SYNE1):c.24977-5C>T
|
rs767722883
|
0.00009
|
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)
|
rs140986546
|
0.00009
|
NM_198994.3(TGM6):c.990-6T>C
|
rs370391681
|
0.00009
|
NM_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
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_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_003383.5(VLDLR):c.639C>T (p.Asp213=)
|
rs779155452
|
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.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_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_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_020247.5(COQ8A):c.*570T>C
|
rs778729725
|
0.00008
|
NM_024411.5(PDYN):c.*522C>T
|
rs886056532
|
0.00008
|
NM_033064.5(ATCAY):c.*838G>A
|
rs1306758402
|
0.00008
|
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
|
rs749005373
|
0.00008
|
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)
|
rs776288515
|
0.00008
|
NM_198994.3(TGM6):c.1170C>T (p.Phe390=)
|
rs765423180
|
0.00008
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
NM_001173990.3(TMEM216):c.*525T>G
|
rs982189283
|
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_003383.5(VLDLR):c.-207G>A
|
rs1429851395
|
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.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)
|
rs141163823
|
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_018718.3(CEP41):c.*1284A>G
|
rs376297063
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_033064.5(ATCAY):c.*1409T>C
|
rs886054421
|
0.00007
|
NM_033064.5(ATCAY):c.*3136A>T
|
rs569189077
|
0.00007
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)
|
rs369192821
|
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_198994.3(TGM6):c.834C>T (p.Ala278=)
|
rs371740473
|
0.00007
|
NM_000370.3(TTPA):c.*934C>T
|
rs776683493
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_001044385.3(TMEM237):c.*1560C>T
|
rs983166297
|
0.00006
|
NM_001044385.3(TMEM237):c.*3992A>G
|
rs768173661
|
0.00006
|
NM_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
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.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_001173990.3(TMEM216):c.*372C>T
|
rs565159932
|
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_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=)
|
rs373515668
|
0.00006
|
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)
|
rs200034384
|
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.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_002739.5(PRKCG):c.*426C>T
|
rs1002891475
|
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_006946.4(SPTBN2):c.1653+13C>T
|
rs376349935
|
0.00006
|
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=)
|
rs371535973
|
0.00006
|
NM_014053.4(FLVCR1):c.*114C>T
|
rs184177347
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.169G>C (p.Glu57Gln)
|
rs1021024627
|
0.00006
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
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.954A>G (p.Leu318=)
|
rs147412202
|
0.00006
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
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.6161G>A (p.Ser2054Asn)
|
rs200778360
|
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_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_016169.4(SUFU):c.*520G>A
|
rs757315966
|
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_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.320C>G (p.Ala107Gly)
|
rs141025803
|
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.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_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_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.10785C>T (p.Asn3595=)
|
rs377049622
|
0.00006
|
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys)
|
rs148935596
|
0.00006
|
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)
|
rs147125369
|
0.00006
|
NM_182961.4(SYNE1):c.19693-15G>A
|
rs187885923
|
0.00006
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
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.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)
|
rs755866233
|
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.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00006
|
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)
|
rs77221231
|
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_001044385.3(TMEM237):c.*3385C>T
|
rs374762322
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
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_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_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.447G>A (p.Ala149=)
|
rs145681117
|
0.00005
|
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
|
rs142697365
|
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.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)
|
rs141359583
|
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.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_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)
|
rs200437800
|
0.00005
|
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly)
|
rs377526133
|
0.00005
|
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=)
|
rs766515787
|
0.00005
|
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser)
|
rs777227521
|
0.00005
|
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=)
|
rs767628258
|
0.00005
|
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)
|
rs771221504
|
0.00005
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
NM_198994.3(TGM6):c.181+10C>T
|
rs780460166
|
0.00005
|
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.545T>C (p.Ile182Thr)
|
rs556745324
|
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_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
|
rs761804458
|
0.00004
|
NM_001134831.2(AHI1):c.2492+15G>A
|
rs535243555
|
0.00004
|
NM_001173990.2(TMEM216):c.-264C>T
|
rs1365742655
|
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_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_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.1859G>A (p.Ser620Asn)
|
rs373797532
|
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.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
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_004115.4(FGF14):c.477C>T (p.Ser159=)
|
rs776794756
|
0.00004
|
NM_006796.3(AFG3L2):c.*373G>A
|
rs886053612
|
0.00004
|
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr)
|
rs758811358
|
0.00004
|
NM_006946.4(SPTBN2):c.*228dup
|
rs886048544
|
0.00004
|
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=)
|
rs374787500
|
0.00004
|
NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys)
|
rs372241839
|
0.00004
|
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=)
|
rs141779130
|
0.00004
|
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His)
|
rs145750214
|
0.00004
|
NM_006946.4(SPTBN2):c.6035-12C>T
|
rs2276137
|
0.00004
|
NM_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.10576A>G (p.Ile3526Val)
|
rs199881455
|
0.00004
|
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
|
rs145188410
|
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.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.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
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.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
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.9A>G (p.Thr3=)
|
rs139681694
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_016169.4(SUFU):c.*2267G>T
|
rs886046660
|
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_020247.5(COQ8A):c.1236C>T (p.Ala412=)
|
rs764541059
|
0.00004
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
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.56G>A (p.Gly19Glu)
|
rs767175342
|
0.00004
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
rs368863664
|
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.3230A>G (p.Gln1077Arg)
|
rs200668620
|
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_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_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
|
rs76410834
|
0.00004
|
NM_182961.4(SYNE1):c.12099C>T (p.His4033=)
|
rs375862387
|
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.16025C>T (p.Thr5342Met)
|
rs202105931
|
0.00004
|
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)
|
rs202171698
|
0.00004
|
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp)
|
rs200209279
|
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.19555G>A (p.Val6519Ile)
|
rs563568189
|
0.00004
|
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=)
|
rs200800604
|
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.25194G>A (p.Glu8398=)
|
rs369691475
|
0.00004
|
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=)
|
rs746159592
|
0.00004
|
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)
|
rs149415204
|
0.00004
|
NM_182961.4(SYNE1):c.3670-4A>G
|
rs377058395
|
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.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)
|
rs757960938
|
0.00004
|
NM_182961.4(SYNE1):c.888+4G>C
|
rs749258298
|
0.00004
|
NM_198994.3(TGM6):c.1093+10A>G
|
rs375737445
|
0.00004
|
NM_198994.3(TGM6):c.543+7A>G
|
rs755777005
|
0.00004
|
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)
|
rs202245813
|
0.00004
|
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.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.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn)
|
rs775027289
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_001044385.3(TMEM237):c.*3697G>A
|
rs761856568
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
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.2660A>G (p.Lys887Arg)
|
rs200355875
|
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_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.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_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
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_004115.4(FGF14):c.*777C>A
|
rs886049936
|
0.00003
|
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=)
|
rs774265056
|
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.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
NM_014363.6(SACS):c.345+14C>T
|
rs538944334
|
0.00003
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
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.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_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
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_015272.5(RPGRIP1L):c.*119C>T
|
rs886052091
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
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_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_016464.5(TMEM138):c.*264C>G
|
rs886048409
|
0.00003
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
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.757+11T>C
|
rs1050676312
|
0.00003
|
NM_020247.5(COQ8A):c.*631C>G
|
rs886046073
|
0.00003
|
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val)
|
rs773489358
|
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.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.1359G>A (p.Ser453=)
|
rs779195306
|
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.6870T>C (p.Asn2290=)
|
rs572443869
|
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_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_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.11362A>C (p.Lys3788Gln)
|
rs774322624
|
0.00003
|
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=)
|
rs767967824
|
0.00003
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
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.17774A>G (p.Tyr5925Cys)
|
rs759380758
|
0.00003
|
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp)
|
rs201873107
|
0.00003
|
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr)
|
rs763051329
|
0.00003
|
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=)
|
rs762665527
|
0.00003
|
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val)
|
rs1055043180
|
0.00003
|
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=)
|
rs185088779
|
0.00003
|
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys)
|
rs373016793
|
0.00003
|
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=)
|
rs758276004
|
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.7277A>C (p.Lys2426Thr)
|
rs764200857
|
0.00003
|
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln)
|
rs747634832
|
0.00003
|
NM_198994.3(TGM6):c.1089T>C (p.Ser363=)
|
rs762242728
|
0.00003
|
NM_198994.3(TGM6):c.816C>T (p.Gly272=)
|
rs368599004
|
0.00003
|
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_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
|
rs778424069
|
0.00002
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001134831.2(AHI1):c.*1426A>T
|
rs886061101
|
0.00002
|
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
|
rs371835751
|
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_001173990.3(TMEM216):c.*335G>A
|
rs886048414
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
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_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.3659C>T (p.Ala1220Val)
|
rs773701050
|
0.00002
|
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=)
|
rs886058618
|
0.00002
|
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=)
|
rs765524918
|
0.00002
|
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=)
|
rs748401794
|
0.00002
|
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met)
|
rs767779223
|
0.00002
|
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val)
|
rs201934670
|
0.00002
|
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
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_001386140.1(MTTP):c.901T>C (p.Cys301Arg)
|
rs759706918
|
0.00002
|
NM_002222.6(ITPR1):c.*1311G>A
|
rs772889585
|
0.00002
|
NM_002739.5(PRKCG):c.-233C>T
|
rs752173466
|
0.00002
|
NM_002739.5(PRKCG):c.529+11G>T
|
rs886054612
|
0.00002
|
NM_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_004115.4(FGF14):c.*1296A>C
|
rs540292614
|
0.00002
|
NM_004115.4(FGF14):c.651G>A (p.Thr217=)
|
rs151325645
|
0.00002
|
NM_006796.3(AFG3L2):c.-56C>A
|
rs886053619
|
0.00002
|
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=)
|
rs540897209
|
0.00002
|
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr)
|
rs765561071
|
0.00002
|
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu)
|
rs376249009
|
0.00002
|
NM_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.1608G>A (p.Pro536=)
|
rs745730439
|
0.00002
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)
|
rs757576348
|
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.7454A>T (p.His2485Leu)
|
rs1420170258
|
0.00002
|
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)
|
rs377626385
|
0.00002
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
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.2439A>C (p.Glu813Asp)
|
rs190841601
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
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.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_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.2658G>A (p.Ser886=)
|
rs775153934
|
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.169A>G (p.Ile57Val)
|
rs377614167
|
0.00002
|
NM_016464.5(TMEM138):c.*548G>A
|
rs1565080891
|
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_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.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_020247.5(COQ8A):c.*613G>A
|
rs537646948
|
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.1549T>C (p.Leu517=)
|
rs752942122
|
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_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_173500.4(TTBK2):c.-282A>C
|
rs949605219
|
0.00002
|
NM_182961.4(SYNE1):c.1305C>T (p.His435=)
|
rs539575253
|
0.00002
|
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)
|
rs368709678
|
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.17014C>T (p.Arg5672Trp)
|
rs780794124
|
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.20741A>C (p.His6914Pro)
|
rs773155844
|
0.00002
|
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe)
|
rs886061196
|
0.00002
|
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)
|
rs202017153
|
0.00002
|
NM_182961.4(SYNE1):c.23978+11A>T
|
rs754355745
|
0.00002
|
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=)
|
rs201344762
|
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.5666A>C (p.Gln1889Pro)
|
rs779600835
|
0.00002
|
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn)
|
rs1449605743
|
0.00002
|
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys)
|
rs370082646
|
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_000253.4(MTTP):c.-205G>A
|
rs886058953
|
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.358+15A>G
|
rs371592549
|
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_000784.3(CYP27A1):c.-162C>T
|
rs886055629
|
0.00001
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_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.132A>C (p.Thr44=)
|
rs747915597
|
0.00001
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
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.875A>T (p.Asp292Val)
|
rs773512396
|
0.00001
|
NM_001080522.2(CC2D2A):c.*144A>C
|
rs920755267
|
0.00001
|
NM_001128178.3(NPHP1):c.*322A>G
|
rs886054752
|
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.240G>A (p.Gln80=)
|
rs767719020
|
0.00001
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
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.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met)
|
rs780336496
|
0.00001
|
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
|
rs1380121460
|
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.2814A>G (p.Pro938=)
|
rs775305093
|
0.00001
|
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)
|
rs760858792
|
0.00001
|
NM_001134831.2(AHI1):c.2962-13G>A
|
rs927158679
|
0.00001
|
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
|
rs756637497
|
0.00001
|
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met)
|
rs781286716
|
0.00001
|
NM_001173990.2(TMEM216):c.-242C>T
|
rs756981776
|
0.00001
|
NM_001173990.3(TMEM216):c.*377T>C
|
rs1260385076
|
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.2073T>C (p.His691=)
|
rs781524899
|
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.3162-9C>T
|
rs1159582623
|
0.00001
|
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=)
|
rs766131451
|
0.00001
|
NM_001378452.1(ITPR1):c.3327+10G>T
|
rs757492529
|
0.00001
|
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=)
|
rs764767201
|
0.00001
|
NM_001378452.1(ITPR1):c.3564+9C>T
|
rs564799796
|
0.00001
|
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=)
|
rs540908870
|
0.00001
|
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=)
|
rs886058578
|
0.00001
|
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=)
|
rs2094755597
|
0.00001
|
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=)
|
rs1396361560
|
0.00001
|
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg)
|
rs886058619
|
0.00001
|
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=)
|
rs754434409
|
0.00001
|
NM_001378452.1(ITPR1):c.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.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.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.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.880G>C (p.Val294Leu)
|
rs201986486
|
0.00001
|
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)
|
rs113371687
|
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.1477G>T (p.Ala493Ser)
|
rs758939873
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
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_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.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_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.541G>A (p.Asp181Asn)
|
rs144469558
|
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_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.2412C>T (p.Asp804=)
|
rs770555771
|
0.00001
|
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)
|
rs145702618
|
0.00001
|
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=)
|
rs758091474
|
0.00001
|
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=)
|
rs768932281
|
0.00001
|
NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=)
|
rs886048550
|
0.00001
|
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys)
|
rs368125962
|
0.00001
|
NM_006946.4(SPTBN2):c.5248C>A (p.Arg1750Ser)
|
rs886048548
|
0.00001
|
NM_006946.4(SPTBN2):c.54G>A (p.Gln18=)
|
rs377573278
|
0.00001
|
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=)
|
rs749188722
|
0.00001
|
NM_006946.4(SPTBN2):c.6374+15G>A
|
rs777633339
|
0.00001
|
NM_006946.4(SPTBN2):c.6502-9C>T
|
rs545190212
|
0.00001
|
NM_006946.4(SPTBN2):c.657-7C>G
|
rs758925003
|
0.00001
|
NM_006946.4(SPTBN2):c.6723-11G>A
|
rs758435668
|
0.00001
|
NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg)
|
rs201670045
|
0.00001
|
NM_006946.4(SPTBN2):c.6897-4A>G
|
rs1262014282
|
0.00001
|
NM_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.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.10096C>T (p.His3366Tyr)
|
rs1388546547
|
0.00001
|
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)
|
rs886050078
|
0.00001
|
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)
|
rs886050075
|
0.00001
|
NM_014363.6(SACS):c.12816C>T (p.Gly4272=)
|
rs142643824
|
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.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)
|
rs376186273
|
0.00001
|
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile)
|
rs767844042
|
0.00001
|
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)
|
rs571646732
|
0.00001
|
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
|
rs774044532
|
0.00001
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
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.4782C>G (p.Asp1594Glu)
|
rs1330036755
|
0.00001
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
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.6096G>A (p.Ser2032=)
|
rs756027210
|
0.00001
|
NM_014363.6(SACS):c.60C>T (p.Cys20=)
|
rs932552006
|
0.00001
|
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)
|
rs149278134
|
0.00001
|
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)
|
rs767864000
|
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.8191C>T (p.Arg2731Cys)
|
rs772072343
|
0.00001
|
NM_014363.6(SACS):c.8379G>A (p.Gln2793=)
|
rs776028181
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014363.6(SACS):c.944A>G (p.Asp315Gly)
|
rs771115225
|
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.2003A>G (p.Asn668Ser)
|
rs780898043
|
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.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
NM_015046.7(SETX):c.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
|
rs185338915
|
0.00001
|
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
|
rs765849036
|
0.00001
|
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
|
rs200571606
|
0.00001
|
NM_015046.7(SETX):c.617A>G (p.Glu206Gly)
|
rs759880306
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)
|
rs912160285
|
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_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.166C>T (p.Arg56Cys)
|
rs755258407
|
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.2201G>A (p.Arg734Gln)
|
rs117364872
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
|
rs768672275
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)
|
rs371616177
|
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.3824A>G (p.Gln1275Arg)
|
rs776310931
|
0.00001
|
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)
|
rs1167981125
|
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.180C>T (p.Tyr60=)
|
rs776945270
|
0.00001
|
NM_016169.4(SUFU):c.183-13T>G
|
rs749913059
|
0.00001
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
NM_016169.4(SUFU):c.756+10G>C
|
rs764838079
|
0.00001
|
NM_016464.5(TMEM138):c.-17G>A
|
rs757369483
|
0.00001
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
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_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_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.53C>T (p.Pro18Leu)
|
rs111688621
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
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_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.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_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.1345A>G (p.Lys449Glu)
|
rs747463477
|
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.274A>G (p.Met92Val)
|
rs951351175
|
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.3176T>A (p.Ile1059Lys)
|
rs928926898
|
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.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
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.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
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_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.10289G>A (p.Gly3430Glu)
|
rs760727534
|
0.00001
|
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile)
|
rs886043016
|
0.00001
|
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln)
|
rs1060499769
|
0.00001
|
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr)
|
rs2098931321
|
0.00001
|
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)
|
rs775097525
|
0.00001
|
NM_182961.4(SYNE1):c.1176G>A (p.Val392=)
|
rs776130961
|
0.00001
|
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)
|
rs761744256
|
0.00001
|
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)
|
rs747838657
|
0.00001
|
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His)
|
rs150266354
|
0.00001
|
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=)
|
rs370314344
|
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.15917+9G>A
|
rs779265988
|
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.17016G>T (p.Arg5672=)
|
rs573806608
|
0.00001
|
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser)
|
rs774683772
|
0.00001
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00001
|
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=)
|
rs552884641
|
0.00001
|
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=)
|
rs762720357
|
0.00001
|
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala)
|
rs753654674
|
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.22368A>G (p.Leu7456=)
|
rs745722568
|
0.00001
|
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His)
|
rs750911961
|
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.24350G>A (p.Arg8117Gln)
|
rs777435137
|
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.25508A>G (p.Asn8503Ser)
|
rs756645782
|
0.00001
|
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)
|
rs764235096
|
0.00001
|
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)
|
rs747858299
|
0.00001
|
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His)
|
rs886061213
|
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.6724T>A (p.Ser2242Thr)
|
rs371609288
|
0.00001
|
NM_182961.4(SYNE1):c.7030-4G>C
|
rs112853992
|
0.00001
|
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys)
|
rs886061209
|
0.00001
|
NM_182961.4(SYNE1):c.8004+5A>G
|
rs746589347
|
0.00001
|
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser)
|
rs202207690
|
0.00001
|
NM_182961.4(SYNE1):c.8571T>C (p.His2857=)
|
rs886061207
|
0.00001
|
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=)
|
rs199554198
|
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.787A>G (p.Lys263Glu)
|
rs886056552
|
0.00001
|
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln)
|
rs776511523
|
0.00001
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
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.144C>G (p.Thr48=)
|
rs1805743504
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
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_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.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
|
rs1943690611
|
|
NM_000784.4(CYP27A1):c.447-3C>T
|
rs770217459
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
|
rs1943740072
|
|
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile)
|
rs1187853515
|
|
NM_001020658.2(PUM1):c.896C>A (p.Pro299His)
|
rs1641834551
|
|
NM_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.1115C>G (p.Ser372Cys)
|
rs886055447
|
|
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
|
rs1687306098
|
|
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
|
rs1957812548
|
|
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.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
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.593A>G (p.Asn198Ser)
|
rs886054756
|
|
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)
|
rs886054755
|
|
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_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.*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.1304G>A (p.Arg435Gln)
|
rs545841352
|
|
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)
|
rs886061112
|
|
NM_001134831.2(AHI1):c.1627-6A>G
|
rs886061111
|
|
NM_001134831.2(AHI1):c.1780-3T>C
|
rs1786509189
|
|
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.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.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.3223G>C (p.Gly1075Arg)
|
rs750115460
|
|
NM_001134831.2(AHI1):c.3486-4A>G
|
rs534053819
|
|
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_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_001195248.2(APTX):c.742T>C (p.Leu248=)
|
rs141195622
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
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.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
rs963837216
|
|
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
rs2048072049
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
rs2048126886
|
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
rs1595609824
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
|
rs2048192586
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723
|
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
rs2048317566
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
rs2048487270
|
|
NM_001378452.1(ITPR1):c.*1076TTCTT[1]
|
rs886058653
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1169_*1170insAAA
|
rs752544427
|
|
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1]
|
rs1553771554
|
|
NM_001378452.1(ITPR1):c.*1183_*1184dup
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1184del
|
rs3079679
|
|
NM_001378452.1(ITPR1):c.*1266G>A
|
rs886058655
|
|
NM_001378452.1(ITPR1):c.*13A>T
|
rs886058644
|
|
NM_001378452.1(ITPR1):c.*312G>A
|
rs886058646
|
|
NM_001378452.1(ITPR1):c.*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.1297G>A (p.Val433Ile)
|
rs2093848251
|
|
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn)
|
rs2093849179
|
|
NM_001378452.1(ITPR1):c.1412+6C>T
|
rs2093850197
|
|
NM_001378452.1(ITPR1):c.1413-15G>A
|
rs148675260
|
|
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=)
|
rs886058612
|
|
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly)
|
rs2093921786
|
|
NM_001378452.1(ITPR1):c.2204+14G>A
|
rs529693973
|
|
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys)
|
rs961418831
|
|
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val)
|
rs111670385
|
|
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=)
|
rs886058614
|
|
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=)
|
rs541386070
|
|
NM_001378452.1(ITPR1):c.366+15C>T
|
rs145989158
|
|
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser)
|
rs1159285250
|
|
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=)
|
rs2094513887
|
|
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser)
|
rs886058615
|
|
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.5725+15G>A
|
rs2045841537
|
|
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=)
|
rs1157485528
|
|
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val)
|
rs2046693194
|
|
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn)
|
rs886058620
|
|
NM_001378452.1(ITPR1):c.7562-11C>T
|
rs368532017
|
|
NM_001378452.1(ITPR1):c.7677T>C (p.Asp2559=)
|
rs886058626
|
|
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=)
|
rs775463557
|
|
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=)
|
rs2050964614
|
|
NM_001378615.1(CC2D2A):c.-178T>C
|
rs886059135
|
|
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.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.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.3333T>C (p.Val1111=)
|
rs753770061
|
|
NM_001378615.1(CC2D2A):c.3398+13T>C
|
rs886059183
|
|
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn)
|
rs371998498
|
|
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu)
|
rs778519147
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
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.4560T>C (p.Asn1520=)
|
rs1721486758
|
|
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu)
|
rs886059186
|
|
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.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1769+12T>C
|
rs767162951
|
|
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)
|
rs767606327
|
|
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)
|
rs1724921174
|
|
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)
|
rs1037319735
|
|
NM_001386140.1(MTTP):c.927G>A (p.Arg309=)
|
rs1001965936
|
|
NM_002222.6(ITPR1):c.*1366C>T
|
rs146958900
|
|
NM_002222.6(ITPR1):c.*1531G>A
|
rs9817206
|
|
NM_002739.5(PRKCG):c.*39C>T
|
rs776490487
|
|
NM_002739.5(PRKCG):c.1764+8C>T
|
rs756397908
|
|
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=)
|
rs868833808
|
|
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.1703+10C>G
|
rs372047946
|
|
NM_003383.5(VLDLR):c.1971C>T (p.Val657=)
|
rs1039272492
|
|
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.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.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_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.664G>A (p.Gly222Arg)
|
rs886049938
|
|
NM_006796.3(AFG3L2):c.-18A>G
|
rs886053618
|
|
NM_006796.3(AFG3L2):c.-78C>A
|
rs1909190689
|
|
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)
|
rs375098002
|
|
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser)
|
rs1908301962
|
|
NM_006796.3(AFG3L2):c.1664-5G>C
|
rs886053615
|
|
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu)
|
rs886053616
|
|
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.1827G>T (p.Pro609=)
|
rs776570497
|
|
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=)
|
rs748341964
|
|
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=)
|
rs766115824
|
|
NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter)
|
rs1402216317
|
|
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=)
|
rs886048551
|
|
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln)
|
rs886048552
|
|
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=)
|
rs886048549
|
|
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp)
|
rs886048547
|
|
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln)
|
rs541138596
|
|
NM_006946.4(SPTBN2):c.6431C>T (p.Thr2144Ile)
|
rs886048546
|
|
NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro)
|
rs886048545
|
|
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=)
|
rs750664912
|
|
NM_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.1394T>G (p.Leu465Arg)
|
rs1665115556
|
|
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.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.10064T>G (p.Ile3355Arg)
|
rs372488932
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
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.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.10967C>G (p.Pro3656Arg)
|
rs886050076
|
|
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)
|
rs1883575875
|
|
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.12035T>C (p.Ile4012Thr)
|
rs1883497856
|
|
NM_014363.6(SACS):c.12063T>C (p.His4021=)
|
rs886050074
|
|
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.12812C>T (p.Pro4271Leu)
|
rs779668584
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser)
|
rs886050072
|
|
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.13563T>C (p.Asn4521=)
|
rs766497653
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
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.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe)
|
rs961377840
|
|
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.5302C>T (p.His1768Tyr)
|
rs758381112
|
|
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.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val)
|
rs758895050
|
|
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val)
|
rs886050084
|
|
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.6754G>T (p.Asp2252Tyr)
|
rs886050082
|
|
NM_014363.6(SACS):c.736C>G (p.Gln246Glu)
|
rs886050089
|
|
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser)
|
rs777424692
|
|
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)
|
rs750491874
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.7857T>C (p.Thr2619=)
|
rs886050081
|
|
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.8341C>G (p.His2781Asp)
|
rs886050080
|
|
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser)
|
rs886050079
|
|
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.9572C>T (p.Thr3191Ile)
|
rs1883687760
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)
|
rs1883670937
|
|
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.1358A>G (p.Lys453Arg)
|
rs886063559
|
|
NM_015046.7(SETX):c.156T>C (p.Asp52=)
|
rs1848476611
|
|
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)
|
rs886063557
|
|
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
|
rs1339144218
|
|
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.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
|
rs1847007637
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
|
rs766625711
|
|
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)
|
rs886063553
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
|
rs762175796
|
|
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)
|
rs886063552
|
|
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
|
rs1844714133
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
NM_015046.7(SETX):c.6106+8A>G
|
rs1314479594
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
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.7648A>G (p.Lys2550Glu)
|
rs1842546596
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
|
rs1842537896
|
|
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.988C>T (p.His330Tyr)
|
rs1847220041
|
|
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
|
|
|
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile)
|
rs1435279555
|
|
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.1372G>A (p.Glu458Lys)
|
rs776941281
|
|
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.230+14G>A
|
rs1970739259
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
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.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.3578C>T (p.Pro1193Leu)
|
rs886052092
|
|
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)
|
rs773361667
|
|
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)
|
rs376808910
|
|
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)
|
rs1195150584
|
|
NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met)
|
rs1232333514
|
|
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.1174_1175dup (p.Arg393fs)
|
rs1564707343
|
|
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg)
|
rs1554852266
|
|
NM_016169.4(SUFU):c.696C>G (p.Pro232=)
|
rs2063434189
|
|
NM_016464.5(TMEM138):c.*407G>C
|
rs886048410
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser)
|
rs1349854928
|
|
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_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_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.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.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.338-11T>C
|
rs774494441
|
|
NM_018075.5(ANO10):c.616del (p.Glu206fs)
|
rs886058481
|
|
NM_018075.5(ANO10):c.857C>T (p.Pro286Leu)
|
rs375157457
|
|
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.1611C>G (p.Tyr537Ter)
|
rs772318046
|
|
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly)
|
rs906821798
|
|
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.244G>T (p.Glu82Ter)
|
rs1562984087
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
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.1163-10C>T
|
rs886046067
|
|
NM_020247.5(COQ8A):c.1256+11C>G
|
rs564593360
|
|
NM_020247.5(COQ8A):c.1398+12C>A
|
rs774158999
|
|
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.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
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.697G>A (p.Ala233Thr)
|
rs376462712
|
|
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala)
|
rs886046065
|
|
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.1826G>T (p.Arg609Leu)
|
rs1274226715
|
|
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
|
rs1426435572
|
|
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_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.-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.1017G>C (p.Leu339=)
|
rs769587333
|
|
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
|
|
|
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
|
|
|
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
|
|
|
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
|
|
|
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
|
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
|
|
|
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
|
|
|
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
|
|
|
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.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.691C>T (p.Arg231Trp)
|
rs201204862
|
|
NM_024411.5(PDYN):c.86G>T (p.Cys29Phe)
|
rs1987927570
|
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.1623+10G>A
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
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.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3574-9T>A
|
rs202038547
|
|
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
|
rs2036852568
|
|
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
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.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
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.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.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
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.162C>T (p.Asn54=)
|
rs373392142
|
|
NM_033064.5(ATCAY):c.544+16dup
|
rs140914543
|
|
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.21832-2dup
|
rs35128811
|
|
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.2928A>T (p.Pro976=)
|
rs1567000293
|
|
NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)
|
rs2061791617
|
|
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)
|
rs563297091
|
|
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)
|
rs933067569
|
|
NM_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_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.-352C>T
|
rs886061220
|
|
NM_182961.4(SYNE1):c.-40A>T
|
rs2099690467
|
|
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)
|
rs145287138
|
|
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=)
|
rs886061205
|
|
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly)
|
rs2096893025
|
|
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=)
|
rs765669433
|
|
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr)
|
rs2098931353
|
|
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.1119C>T (p.His373=)
|
rs886061217
|
|
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=)
|
rs1057518265
|
|
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.12090T>A (p.Ser4030Arg)
|
rs2096590726
|
|
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys)
|
rs1159138676
|
|
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met)
|
rs144274149
|
|
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp)
|
rs866991892
|
|
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe)
|
rs761198236
|
|
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly)
|
rs886061204
|
|
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)
|
rs554814659
|
|
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp)
|
rs968829958
|
|
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys)
|
rs746657854
|
|
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr)
|
rs759275432
|
|
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=)
|
rs774649954
|
|
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=)
|
rs762262465
|
|
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met)
|
rs886061203
|
|
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn)
|
rs886061216
|
|
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=)
|
rs869025528
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro)
|
rs2095450657
|
|
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=)
|
rs997194150
|
|
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg)
|
rs2093773675
|
|
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys)
|
rs867471417
|
|
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala)
|
rs886061202
|
|
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.18776T>C (p.Leu6259Pro)
|
rs886061201
|
|
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val)
|
rs1275027623
|
|
NM_182961.4(SYNE1):c.1932+9G>T
|
rs746181375
|
|
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=)
|
rs773211579
|
|
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=)
|
rs2082942186
|
|
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=)
|
rs886061200
|
|
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg)
|
rs2081442642
|
|
NM_182961.4(SYNE1):c.21351+14C>T
|
rs2081426061
|
|
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.21522G>C (p.Gln7174His)
|
rs886061198
|
|
NM_182961.4(SYNE1):c.21523-8dup
|
rs761577958
|
|
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=)
|
rs886061197
|
|
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His)
|
rs756758310
|
|
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg)
|
rs886061215
|
|
NM_182961.4(SYNE1):c.22044+9C>T
|
rs774609945
|
|
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val)
|
rs963496863
|
|
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.23141G>A (p.Cys7714Tyr)
|
rs886061195
|
|
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg)
|
rs2063159798
|
|
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile)
|
rs757122298
|
|
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala)
|
rs746086003
|
|
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=)
|
rs886061194
|
|
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.24252A>G (p.Glu8084=)
|
rs886061193
|
|
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser)
|
rs886061192
|
|
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu)
|
rs2060437692
|
|
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)
|
rs143900928
|
|
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu)
|
rs148367376
|
|
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His)
|
rs766534980
|
|
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=)
|
rs576598951
|
|
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr)
|
rs1466825112
|
|
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His)
|
rs886061191
|
|
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=)
|
rs2098645628
|
|
NM_182961.4(SYNE1):c.3670-14del
|
rs111322292
|
|
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=)
|
rs1041302788
|
|
NM_182961.4(SYNE1):c.403-10T>G
|
rs886061219
|
|
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln)
|
rs149918889
|
|
NM_182961.4(SYNE1):c.4461+6C>T
|
rs776194459
|
|
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=)
|
rs776593228
|
|
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.487A>T (p.Thr163Ser)
|
rs886061218
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_182961.4(SYNE1):c.553T>C (p.Leu185=)
|
rs2099078168
|
|
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr)
|
rs917922270
|
|
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=)
|
rs773819434
|
|
NM_182961.4(SYNE1):c.6541-12T>A
|
rs2097913765
|
|
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly)
|
rs886061211
|
|
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
|
rs2099051828
|
|
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu)
|
rs1374881204
|
|
NM_182961.4(SYNE1):c.68-14C>A
|
rs554675581
|
|
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe)
|
rs867285350
|
|
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly)
|
rs1395736433
|
|
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr)
|
rs1317403604
|
|
NM_182961.4(SYNE1):c.7030-14C>T
|
rs1257361080
|
|
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met)
|
rs550027519
|
|
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.7996C>A (p.Gln2666Lys)
|
rs577888458
|
|
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys)
|
rs766019755
|
|
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp)
|
rs886061208
|
|
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val)
|
rs1591451162
|
|
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln)
|
rs1024177161
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr)
|
rs886061206
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
NM_198994.3(TGM6):c.-5T>A
|
rs886056550
|
|
NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys)
|
rs267605859
|
|
NM_198994.3(TGM6):c.1678+11G>T
|
rs376838053
|
|
NM_198994.3(TGM6):c.1678+12C>A
|
rs1171960882
|
|
NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser)
|
rs76002756
|
|
NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr)
|
rs748573955
|
|
NM_198994.3(TGM6):c.95T>G (p.Val32Gly)
|
rs886056551
|
|