ClinVar Miner

List of variants reported as uncertain significance for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10191
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.*1566A>T rs113327053 0.05268
NM_014363.6(SACS):c.-531G>A rs73154650 0.02896
NM_001378452.1(ITPR1):c.*1170C>A rs202059633 0.02047
NM_018075.5(ANO10):c.*179C>T rs111871863 0.01862
NM_014053.4(FLVCR1):c.-156del rs373452417 0.01681
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_014053.4(FLVCR1):c.*2059T>C rs6688825 0.01209
NM_001378452.1(ITPR1):c.*1185C>A rs867347513 0.01135
NM_018075.5(ANO10):c.-104C>T rs6799022 0.01014
NM_014363.6(SACS):c.-219A>G rs74495070 0.01003
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.*916T>A rs75389729 0.00926
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_000370.3(TTPA):c.*578T>C rs886063065 0.00730
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_018075.5(ANO10):c.*447G>A rs112787589 0.00714
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_018075.5(ANO10):c.-83T>C rs760135054 0.00581
NM_001195248.2(APTX):c.*806G>A rs113556331 0.00570
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_033064.5(ATCAY):c.*1193T>A rs192536222 0.00517
NM_015046.7(SETX):c.-107C>T rs190832998 0.00516
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001044385.3(TMEM237):c.*962A>C rs142403941 0.00484
NM_001044385.3(TMEM237):c.*969A>G rs137925244 0.00484
NM_018075.5(ANO10):c.*368C>T rs114561351 0.00457
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_014053.4(FLVCR1):c.*1739C>T rs191112278 0.00444
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu) rs145980033 0.00420
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_014363.6(SACS):c.*821A>G rs145184122 0.00401
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_018075.5(ANO10):c.-31G>C rs533146042 0.00347
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_014363.6(SACS):c.*625T>A rs186505479 0.00341
NM_002739.5(PRKCG):c.*427T>C rs886054615 0.00334
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_018319.3(TDP1):c.-292G>T rs577403021 0.00332
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_018718.3(CEP41):c.*2116T>C rs190709953 0.00306
NM_018319.4(TDP1):c.*496G>A rs34796911 0.00305
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_018718.3(CEP41):c.*593G>A rs186685101 0.00290
NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu) rs147031440 0.00290
NM_018718.3(CEP41):c.*4322G>A rs538898722 0.00283
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728 0.00281
NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser) rs62620227 0.00280
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu) rs12407578 0.00280
NM_017791.3(FLVCR2):c.*756A>G rs78654241 0.00279
NM_014053.4(FLVCR1):c.*2164G>A rs143656000 0.00270
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_014363.6(SACS):c.-367C>A rs145469796 0.00245
NM_014363.6(SACS):c.-59C>A rs150561537 0.00242
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_014053.4(FLVCR1):c.*3226T>C rs114795134 0.00221
NM_018718.3(CEP41):c.*1974A>G rs185337247 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_014363.6(SACS):c.*777T>C rs77645021 0.00211
NM_001386140.1(MTTP):c.*382T>C rs556994625 0.00210
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) rs41297444 0.00210
NM_033064.5(ATCAY):c.*687C>A rs377406299 0.00209
NM_001173990.3(TMEM216):c.*107G>T rs535550368 0.00203
NM_015272.5(RPGRIP1L):c.*1385A>G rs150194508 0.00201
NM_004115.4(FGF14):c.*414T>C rs557390242 0.00200
NM_018718.3(CEP41):c.*3274G>A rs112007936 0.00199
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_003383.5(VLDLR):c.*46C>G rs35412127 0.00193
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) rs147989825 0.00180
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_018718.3(CEP41):c.*1056A>C rs574982700 0.00170
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_020247.4(COQ8A):c.-137C>A rs557786445 0.00166
NM_033064.5(ATCAY):c.*3332C>A rs59578136 0.00165
NM_001044385.3(TMEM237):c.*308T>G rs185380807 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_018718.3(CEP41):c.*5068G>A rs148856430 0.00163
NM_018718.3(CEP41):c.*740C>T rs553917711 0.00161
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_001044385.3(TMEM237):c.*3855A>G rs187328136 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_001134831.2(AHI1):c.*1404A>G rs149288894 0.00148
NM_016169.4(SUFU):c.528C>T (p.His176=) rs150569584 0.00148
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_015046.7(SETX):c.*1800C>T rs147200829 0.00144
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225 0.00143
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_001044385.3(TMEM237):c.*1382C>T rs187040024 0.00140
NM_001044385.3(TMEM237):c.*3728A>G rs555315551 0.00140
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_018718.3(CEP41):c.*2389G>A rs73152867 0.00138
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_182961.4(SYNE1):c.18574-13T>C rs148664724 0.00134
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_014053.4(FLVCR1):c.738+9T>C rs41296696 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_014053.4(FLVCR1):c.*1627T>G rs529311781 0.00130
NM_024411.5(PDYN):c.*1071G>A rs752953257 0.00129
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_006946.4(SPTBN2):c.*71G>A rs572522164 0.00125
NM_033064.5(ATCAY):c.1053G>A (p.Glu351=) rs369876142 0.00125
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849 0.00125
NM_006796.3(AFG3L2):c.114+12C>T rs758470020 0.00124
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_018718.3(CEP41):c.*4216C>T rs187549864 0.00117
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001134831.2(AHI1):c.*1288T>C rs886061103 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_015378.4(VPS13D):c.1414+5G>A rs190463258 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_033064.5(ATCAY):c.-198C>G rs553381633 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112 0.00105
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_018718.3(CEP41):c.*1579T>C rs554826749 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_001378615.1(CC2D2A):c.-47G>A rs778112215 0.00100
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_014363.6(SACS):c.*1108G>A rs139956143 0.00098
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile) rs199608505 0.00096
NM_018718.3(CEP41):c.*4244C>G rs544508687 0.00096
NM_033064.5(ATCAY):c.1106+10A>T rs199991972 0.00096
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_173500.4(TTBK2):c.*1153G>A rs781080005 0.00093
NM_014363.6(SACS):c.-331A>C rs560626127 0.00092
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078 0.00091
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) rs6147 0.00088
NM_018718.3(CEP41):c.*3541G>A rs376434190 0.00088
NM_006796.3(AFG3L2):c.-92T>C rs574201536 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014363.6(SACS):c.-173C>A rs139517739 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_020247.5(COQ8A):c.*425G>T rs552968994 0.00085
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_018718.3(CEP41):c.*680G>A rs146622910 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs) rs1290125655 0.00082
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_033064.5(ATCAY):c.*3203G>A rs539627639 0.00081
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_018718.3(CEP41):c.*4908G>A rs552988501 0.00080
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) rs112513009 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_015272.5(RPGRIP1L):c.*1510G>A rs140374059 0.00079
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_001134831.2(AHI1):c.*1146T>A rs557989991 0.00076
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile) rs141670485 0.00076
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_006796.3(AFG3L2):c.*379T>A rs150224434 0.00073
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala) rs146488112 0.00073
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His) rs144891748 0.00071
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met) rs201363601 0.00071
NM_005245.4(FAT1):c.8991G>A (p.Thr2997=) rs138496810 0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014053.4(FLVCR1):c.*1454G>A rs565177366 0.00070
NM_173500.4(TTBK2):c.-321C>A rs760435890 0.00070
NM_014053.4(FLVCR1):c.*32T>C rs374779364 0.00068
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896 0.00068
NM_018075.5(ANO10):c.1914+3G>A rs113187031 0.00068
NM_000370.3(TTPA):c.*776C>T rs886063063 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_004115.4(FGF14):c.*974G>A rs886049934 0.00067
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_016169.4(SUFU):c.*476A>G rs575192580 0.00066
NM_033064.5(ATCAY):c.*2282C>T rs759377240 0.00066
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) rs141213887 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_016464.5(TMEM138):c.*228C>G rs536120944 0.00063
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568 0.00063
NM_004115.4(FGF14):c.*1220_*1223dup rs546246953 0.00062
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) rs369748157 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_018075.5(ANO10):c.*91G>A rs776954907 0.00061
NM_033064.5(ATCAY):c.36C>T (p.Asn12=) rs368213837 0.00061
NM_173500.4(TTBK2):c.*580T>A rs544516599 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val) rs201343662 0.00060
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_033064.5(ATCAY):c.*1427A>T rs536842684 0.00060
NM_182961.4(SYNE1):c.5421+9G>T rs376218204 0.00060
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_016464.5(TMEM138):c.461G>A (p.Arg154His) rs147966742 0.00059
NM_017791.3(FLVCR2):c.*18C>T rs369026585 0.00059
NM_018718.3(CEP41):c.*1646G>A rs187513408 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_173500.4(TTBK2):c.*744G>A rs769283772 0.00058
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001195248.2(APTX):c.134-12A>C rs113391831 0.00057
NM_001378615.1(CC2D2A):c.*45G>C rs372449768 0.00057
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) rs777199366 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578 0.00053
NM_004115.4(FGF14):c.*553C>T rs150580343 0.00053
NM_144992.5(VWA3B):c.544G>A (p.Val182Ile) rs367870902 0.00053
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00052
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_001044385.3(TMEM237):c.*1655G>A rs1020619947 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_018319.4(TDP1):c.*945C>T rs540904390 0.00051
NM_024411.5(PDYN):c.*103C>T rs555671052 0.00051
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911 0.00050
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880 0.00049
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_024411.5(PDYN):c.*231C>G rs565210312 0.00049
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_182961.4(SYNE1):c.*191A>G rs567194577 0.00049
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859 0.00049
NM_182961.4(SYNE1):c.4461+15C>T rs757969745 0.00049
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) rs61745095 0.00048
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_006796.3(AFG3L2):c.*221A>G rs886053613 0.00048
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr) rs201876836 0.00048
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_018718.3(CEP41):c.*1981G>A rs538682192 0.00047
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) rs199636231 0.00046
NM_002739.5(PRKCG):c.*622C>G rs1032868211 0.00046
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00046
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00046
NM_001044385.3(TMEM237):c.*2960C>A rs188637429 0.00045
NM_016169.4(SUFU):c.*2729T>C rs574630127 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_174936.4(PCSK9):c.*1151del rs563024336 0.00045
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725 0.00045
NM_001378452.1(ITPR1):c.*942G>T rs41308218 0.00044
NM_001386140.1(MTTP):c.502-12C>T rs200628118 0.00044
NM_003383.5(VLDLR):c.-122T>C rs886063802 0.00044
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile) rs142270656 0.00043
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_018718.3(CEP41):c.*3097T>C rs929238589 0.00042
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_001044385.3(TMEM237):c.*2141C>T rs147652455 0.00041
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) rs551740936 0.00041
NM_003640.5(ELP1):c.1309A>C (p.Asn437His) rs148609833 0.00041
NM_015046.7(SETX):c.*1454C>G rs561712582 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728 0.00041
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_014053.4(FLVCR1):c.*1954A>G rs567288372 0.00040
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_018718.3(CEP41):c.*1385T>G rs781845516 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00040
NM_001044385.3(TMEM237):c.*3517A>G rs563749617 0.00039
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys) rs200127338 0.00039
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001386140.1(MTTP):c.394-7C>T rs368989581 0.00039
NM_014363.6(SACS):c.*569G>A rs554938605 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_017791.3(FLVCR2):c.*1070T>C rs533763314 0.00039
NM_017791.3(FLVCR2):c.*1071G>T rs553617789 0.00039
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) rs201355368 0.00039
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile) rs151156420 0.00039
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu) rs200535417 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_173500.4(TTBK2):c.-279C>A rs866690514 0.00038
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_014363.6(SACS):c.*942A>G rs886050068 0.00037
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) rs369060106 0.00036
NM_002222.6(ITPR1):c.*1347G>T rs547675218 0.00036
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser) rs201606637 0.00036
NM_016373.4(WWOX):c.998G>A (p.Arg333His) rs184773837 0.00036
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_182961.4(SYNE1):c.309+14A>G rs368595280 0.00036
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_000370.3(TTPA):c.*806C>T rs752352118 0.00035
NM_002739.5(PRKCG):c.*550C>T rs778703745 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_018319.4(TDP1):c.*950C>T rs577840358 0.00035
NM_173500.4(TTBK2):c.-130G>C rs886051164 0.00035
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167 0.00035
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227 0.00035
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser) rs148242740 0.00035
NM_000370.3(TTPA):c.*161A>G rs183885151 0.00034
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00034
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) rs199996939 0.00034
NM_006946.4(SPTBN2):c.*121A>G rs554283435 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869 0.00034
NM_033064.5(ATCAY):c.*3404C>T rs540478786 0.00034
NM_182961.4(SYNE1):c.*433A>G rs886061189 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys) rs142258643 0.00034
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837 0.00034
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_016169.4(SUFU):c.*2956C>T rs562546771 0.00033
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) rs144746398 0.00033
NM_018718.3(CEP41):c.*4599A>G rs753024852 0.00033
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_001044385.3(TMEM237):c.*1008A>G rs777244164 0.00032
NM_001195248.2(APTX):c.*834C>G rs770908697 0.00032
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His) rs200446131 0.00032
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu) rs145545828 0.00032
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val) rs200815431 0.00032
NM_016464.5(TMEM138):c.-157C>G rs779029696 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_001195248.2(APTX):c.*858C>G rs772290850 0.00031
NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys) rs145466001 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_182961.4(SYNE1):c.-49C>T rs373654060 0.00031
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272 0.00031
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys) rs149918889 0.00031
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941 0.00031
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_018718.3(CEP41):c.*805A>G rs145808545 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile) rs141049001 0.00030
NM_001134831.2(AHI1):c.*793A>G rs191324834 0.00029
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val) rs113040775 0.00029
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr) rs200148591 0.00029
NM_001378452.1(ITPR1):c.*279A>G rs886058645 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_001386140.1(MTTP):c.-82C>T rs767201629 0.00029
NM_003383.5(VLDLR):c.*16T>C rs150475109 0.00029
NM_006946.4(SPTBN2):c.-56C>T rs527588843 0.00029
NM_014363.6(SACS):c.*222T>C rs577703833 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_018075.5(ANO10):c.*82G>A rs560234921 0.00029
NM_018075.5(ANO10):c.-74C>T rs886058482 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154 0.00029
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761 0.00029
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396 0.00029
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_017791.3(FLVCR2):c.421G>A (p.Val141Met) rs193042691 0.00028
NM_018075.5(ANO10):c.-67C>T rs563565187 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_033064.5(ATCAY):c.*681A>G rs772852314 0.00028
NM_152617.4(RNF168):c.596T>C (p.Leu199Ser) rs147030576 0.00028
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707 0.00028
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00027
NM_001044385.3(TMEM237):c.*987C>T rs568084746 0.00027
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_015046.7(SETX):c.*1688A>G rs773351268 0.00027
NM_016169.4(SUFU):c.*1936C>T rs118033896 0.00027
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp) rs137985190 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001382391.1(CSPP1):c.1497-3C>T rs184342035 0.00026
NM_003383.5(VLDLR):c.*83C>T rs755339168 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe) rs41296694 0.00026
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr) rs140028127 0.00026
NM_015272.5(RPGRIP1L):c.*851C>A rs138437010 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys) rs142806268 0.00026
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_033064.5(ATCAY):c.*2668G>A rs555029183 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) rs146769373 0.00026
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
NM_001386140.1(MTTP):c.-84T>C rs761717058 0.00025
NM_015046.7(SETX):c.*891T>C rs573743210 0.00025
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly) rs369959670 0.00025
NM_018718.3(CEP41):c.*4973C>T rs760160179 0.00025
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_020247.5(COQ8A):c.*612C>T rs747804729 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_182961.4(SYNE1):c.23791-13C>T rs371245873 0.00025
NM_000370.3(TTPA):c.*326T>A rs529634119 0.00024
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253 0.00024
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001271696.3(ABCB7):c.*113A>G rs916633787 0.00024
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys) rs112817798 0.00024
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala) rs896789657 0.00024
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val) rs201898983 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg) rs370605967 0.00024
NM_003383.5(VLDLR):c.*48C>T rs368949453 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys) rs193001955 0.00024
NM_018718.3(CEP41):c.*2226G>A rs115431091 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_033064.5(ATCAY):c.405G>A (p.Ala135=) rs202077180 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551 0.00024
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486 0.00024
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met) rs143842011 0.00024
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645 0.00024
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162 0.00024
NM_182961.4(SYNE1):c.6382-3C>T rs373663183 0.00024
NM_000370.3(TTPA):c.*1365A>C rs181348477 0.00023
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176 0.00023
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509 0.00023
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884 0.00023
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500 0.00023
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys) rs139089832 0.00023
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00023
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_003383.5(VLDLR):c.2104+5C>T rs201953557 0.00022
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664 0.00022
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_018319.4(TDP1):c.*1355G>A rs755484553 0.00022
NM_018319.4(TDP1):c.884+5G>A rs370991229 0.00022
NM_018718.3(CEP41):c.*1341A>C rs782742227 0.00022
NM_020247.5(COQ8A):c.*234G>A rs188462608 0.00022
NM_024411.5(PDYN):c.691C>A (p.Arg231=) rs201204862 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_033064.5(ATCAY):c.*212C>T rs764132493 0.00022
NM_152703.5(SAMD9L):c.1549T>C (p.Trp517Arg) rs199714577 0.00022
NM_174936.4(PCSK9):c.*950C>T rs72646537 0.00022
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly) rs189734757 0.00022
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447 0.00021
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001382391.1(CSPP1):c.3156+6C>T rs375100195 0.00021
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg) rs201797415 0.00021
NM_001386140.1(MTTP):c.*989T>C rs183510498 0.00021
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His) rs142885301 0.00021
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_015046.7(SETX):c.*988G>A rs182693244 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_016169.4(SUFU):c.*1997A>G rs757368847 0.00021
NM_016169.4(SUFU):c.6G>T (p.Ala2=) rs746555296 0.00021
NM_016464.5(TMEM138):c.-169C>T rs553390222 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) rs200021943 0.00021
NM_182961.4(SYNE1):c.*101C>T rs571719631 0.00021
NM_182961.4(SYNE1):c.*186G>A rs766338162 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu) rs139805184 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182 0.00021
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599 0.00021
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072 0.00021
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218 0.00021
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00020
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) rs780969097 0.00020
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile) rs753810786 0.00020
NM_014053.4(FLVCR1):c.*2189G>A rs183774878 0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_018075.5(ANO10):c.473-6G>A rs184416837 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_182961.4(SYNE1):c.22346+6G>T rs368678916 0.00020
NM_000370.3(TTPA):c.*364A>T rs559345463 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser) rs377325998 0.00019
NM_001329943.3(KIAA0586):c.411-1363G>C rs570489575 0.00019
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) rs199901120 0.00019
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) rs7672497 0.00019
NM_006796.3(AFG3L2):c.*484A>G rs565352114 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_015046.7(SETX):c.*2065dup rs886063546 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_017791.3(FLVCR2):c.*155C>T rs562468033 0.00019
NM_018075.5(ANO10):c.1864A>G (p.Met622Val) rs141806947 0.00019
NM_018718.3(CEP41):c.*2781A>G rs782043938 0.00019
NM_018718.3(CEP41):c.*4391G>A rs782450438 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_033064.5(ATCAY):c.478G>A (p.Gly160Arg) rs374611192 0.00019
NM_173500.4(TTBK2):c.*967G>A rs569220743 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_182961.4(SYNE1):c.10003A>G (p.Ile3335Val) rs150814357 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789 0.00019
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807 0.00019
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr) rs149744490 0.00019
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934 0.00019
NM_182961.4(SYNE1):c.7238-11T>C rs200802315 0.00019
NM_000370.3(TTPA):c.204+6C>T rs574780098 0.00018
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr) rs374606907 0.00018
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln) rs376338487 0.00018
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu) rs376549634 0.00018
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674 0.00018
NM_017791.3(FLVCR2):c.286A>G (p.Met96Val) rs199805789 0.00018
NM_018319.4(TDP1):c.*1203G>T rs531417402 0.00018
NM_018319.4(TDP1):c.*228T>G rs954549405 0.00018
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_033064.5(ATCAY):c.*2289C>T rs1025056968 0.00018
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val) rs138350962 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723 0.00018
NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val) rs143467834 0.00018
NM_000370.3(TTPA):c.*554C>T rs576595274 0.00017
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262 0.00017
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_015046.7(SETX):c.-123C>A rs184570956 0.00017
NM_018075.5(ANO10):c.236T>G (p.Met79Arg) rs201275096 0.00017
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) rs141387488 0.00017
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) rs148927677 0.00017
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu) rs187146687 0.00017
NM_182961.4(SYNE1):c.1463+9A>G rs368846118 0.00017
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_000370.3(TTPA):c.*735T>C rs886063064 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001044385.3(TMEM237):c.*3123T>A rs866645983 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001134831.2(AHI1):c.-214C>T rs183265971 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001329943.3(KIAA0586):c.411-1369A>G rs1044844835 0.00016
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00016
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser) rs377385599 0.00016
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) rs374262758 0.00016
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) rs746518411 0.00016
NM_006796.2(AFG3L2):c.-179C>T rs576218520 0.00016
NM_013236.4(ATXN10):c.404G>T (p.Gly135Val) rs199766375 0.00016
NM_014363.6(SACS):c.*394G>A rs956360764 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567 0.00016
NM_014363.6(SACS):c.1444C>G (p.Leu482Val) rs141487769 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln) rs138288107 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059 0.00016
NM_016373.4(WWOX):c.301C>G (p.Pro101Ala) rs574637594 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00016
NM_017791.3(FLVCR2):c.*1633A>C rs552943781 0.00016
NM_017791.3(FLVCR2):c.953-15C>T rs188707531 0.00016
NM_018319.4(TDP1):c.885-15T>C rs375601290 0.00016
NM_018718.3(CEP41):c.*2786A>C rs782016580 0.00016
NM_018718.3(CEP41):c.*705G>A rs782543502 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187 0.00016
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro) rs142987777 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_033064.5(ATCAY):c.*1154G>A rs528605076 0.00016
NM_033064.5(ATCAY):c.*728T>C rs371256803 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.12351+4A>C rs375086691 0.00016
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp) rs375097544 0.00016
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val) rs541395341 0.00016
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys) rs536892317 0.00016
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278 0.00016
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu) rs369236839 0.00016
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala) rs146965313 0.00016
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174 0.00016
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser) rs151300068 0.00016
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val) rs146402274 0.00016
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys) rs778371330 0.00015
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val) rs866563020 0.00015
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val) rs750969059 0.00015
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr) rs775444653 0.00015
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295 0.00015
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val) rs375985758 0.00015
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln) rs137853022 0.00015
NM_006796.3(AFG3L2):c.*326G>A rs180917336 0.00015
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691 0.00015
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604 0.00015
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_001009894.3(RLIG1):c.*594T>C rs376016171 0.00014
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu) rs187783779 0.00014
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser) rs753633031 0.00014
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg) rs200627657 0.00014
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144 0.00014
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_001382391.1(CSPP1):c.-101A>G rs200250731 0.00014
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn) rs201417325 0.00014
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) rs199521775 0.00014
NM_001386140.1(MTTP):c.*436A>G rs1450371659 0.00014
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366 0.00014
NM_014053.4(FLVCR1):c.*2409C>T rs1015419064 0.00014
NM_014053.4(FLVCR1):c.*3260T>C rs183392554 0.00014
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_016169.4(SUFU):c.*721T>G rs2298279 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys) rs201228765 0.00014
NM_016373.4(WWOX):c.946G>C (p.Val316Leu) rs201941494 0.00014
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser) rs374795191 0.00014
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) rs140058160 0.00014
NM_018718.3(CEP41):c.*1328T>A rs782132652 0.00014
NM_018718.3(CEP41):c.*4714T>C rs782085608 0.00014
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) rs760308715 0.00014
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219 0.00014
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00014
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr) rs374301933 0.00014
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093 0.00014
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser) rs375686353 0.00014
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg) rs532911105 0.00014
NM_182961.4(SYNE1):c.16573-3C>T rs376927135 0.00014
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327 0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179 0.00014
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663 0.00014
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn) rs772627014 0.00014
NM_182961.4(SYNE1):c.7029+15A>G rs757201043 0.00014
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00014
NM_198994.3(TGM6):c.632G>A (p.Arg211His) rs192045738 0.00014
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) rs121434349 0.00013
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser) rs776790149 0.00013
NM_001376.4(DYNC1H1):c.-137C>T rs886050367 0.00013
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) rs748602759 0.00013
NM_004115.4(FGF14):c.*1772C>A rs761322568 0.00013
NM_014053.4(FLVCR1):c.*569C>G rs185115842 0.00013
NM_014053.4(FLVCR1):c.*657A>G rs758210046 0.00013
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_016373.4(WWOX):c.1078G>A (p.Val360Met) rs200019508 0.00013
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_020247.5(COQ8A):c.-75C>T rs886046064 0.00013
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_024411.5(PDYN):c.*346G>A rs780894307 0.00013
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_033064.5(ATCAY):c.*929G>A rs1007947890 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00013
NM_173500.4(TTBK2):c.*536T>C rs902865683 0.00013
NM_182961.4(SYNE1):c.18816C>T (p.Gly6272=) rs142296702 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His) rs139175290 0.00013
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_000370.3(TTPA):c.*1422T>G rs913423928 0.00012
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) rs141163645 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001044385.3(TMEM237):c.*1151C>T rs188943302 0.00012
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser) rs370560098 0.00012
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg) rs373927950 0.00012
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr) rs183359461 0.00012
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs201714373 0.00012
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr) rs151120244 0.00012
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly) rs550068559 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_015046.7(SETX):c.*2016G>A rs752950104 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys) rs375995525 0.00012
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp) rs374541202 0.00012
NM_020247.5(COQ8A):c.-113A>G rs886046063 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_033064.5(ATCAY):c.*2311G>A rs186330129 0.00012
NM_033064.5(ATCAY):c.717G>A (p.Thr239=) rs768556456 0.00012
NM_182961.4(SYNE1):c.-347C>A rs570030870 0.00012
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534 0.00012
NM_182961.4(SYNE1):c.13628A>G (p.Tyr4543Cys) rs138770612 0.00012
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890 0.00012
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp) rs150290283 0.00012
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267 0.00012
NM_182961.4(SYNE1):c.4008+15T>C rs368542446 0.00012
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675 0.00012
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met) rs763526846 0.00012
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988 0.00012
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn) rs143081480 0.00011
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) rs376681702 0.00011
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) rs200735064 0.00011
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) rs201393625 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) rs371720718 0.00011
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) rs200346372 0.00011
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) rs368550470 0.00011
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln) rs371211802 0.00011
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met) rs754693915 0.00011
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile) rs368089670 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln) rs758146224 0.00011
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_016169.4(SUFU):c.*1451C>T rs886046659 0.00011
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser) rs1265012285 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_016464.5(TMEM138):c.-23G>A rs192056545 0.00011
NM_016464.5(TMEM138):c.-55G>A rs555405590 0.00011
NM_016464.5(TMEM138):c.-71G>A rs199532763 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_018075.5(ANO10):c.*372G>T rs145489333 0.00011
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr) rs191413952 0.00011
NM_018319.4(TDP1):c.*1015G>A rs374734859 0.00011
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364 0.00011
NM_018718.3(CEP41):c.*1773A>G rs782011799 0.00011
NM_018718.3(CEP41):c.*859G>A rs781930185 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_020247.5(COQ8A):c.*110G>C rs1046215592 0.00011
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=) rs201865243 0.00011
NM_020247.5(COQ8A):c.525C>T (p.Ala175=) rs201787750 0.00011
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715 0.00011
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011 0.00011
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902 0.00011
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920 0.00011
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174 0.00011
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro) rs370472085 0.00011
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308 0.00011
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070 0.00011
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00011
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213 0.00011
NM_000370.3(TTPA):c.*1368C>G rs553853197 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001044385.3(TMEM237):c.*1148A>G rs558665286 0.00010
NM_001044385.3(TMEM237):c.*1762G>A rs886055441 0.00010
NM_001044385.3(TMEM237):c.*2465A>G rs527921749 0.00010
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr) rs576982977 0.00010
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser) rs563492919 0.00010
NM_001080453.3(INTS1):c.3679G>C (p.Glu1227Gln) rs758158889 0.00010
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00010
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) rs142562681 0.00010
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677 0.00010
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) rs753972803 0.00010
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn) rs372215354 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236 0.00010
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu) rs372716023 0.00010
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser) rs201720914 0.00010
NM_002739.5(PRKCG):c.234C>T (p.His78=) rs143456958 0.00010
NM_003383.5(VLDLR):c.*460G>A rs550310153 0.00010
NM_003383.5(VLDLR):c.*63C>T rs17848373 0.00010
NM_003383.5(VLDLR):c.-392C>T rs867729388 0.00010
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs200322331 0.00010
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768 0.00010
NM_004115.4(FGF14):c.*993C>T rs752896423 0.00010
NM_006796.3(AFG3L2):c.-139T>C rs542643055 0.00010
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00010
NM_014053.4(FLVCR1):c.*2218C>T rs886045939 0.00010
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro) rs549957998 0.00010
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) rs147517201 0.00010
NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) rs150829393 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_016169.4(SUFU):c.*2195G>T rs781227748 0.00010
NM_016373.4(WWOX):c.568G>A (p.Val190Met) rs769400934 0.00010
NM_016464.5(TMEM138):c.*92G>C rs372997712 0.00010
NM_017791.3(FLVCR2):c.*675A>G rs1025714059 0.00010
NM_018075.5(ANO10):c.*452A>G rs886058476 0.00010
NM_018319.4(TDP1):c.*801G>A rs1017363264 0.00010
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) rs754747710 0.00010
NM_018718.3(CEP41):c.145+6del rs782483563 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_023077.3(COA7):c.113A>G (p.Tyr38Cys) rs753445023 0.00010
NM_024411.5(PDYN):c.-162A>G rs886056537 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_033064.5(ATCAY):c.*1535G>A rs886054422 0.00010
NM_173500.4(TTBK2):c.-68+15C>G rs886051163 0.00010
NM_182961.4(SYNE1):c.-223-10T>C rs564226533 0.00010
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393 0.00010
NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His) rs142444474 0.00010
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449 0.00010
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu) rs375977864 0.00010
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys) rs144244988 0.00010
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly) rs755740366 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys) rs757688642 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr) rs376169744 0.00010
NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met) rs748509032 0.00010
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529 0.00010
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met) rs139798419 0.00010
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys) rs750573381 0.00010
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=) rs184006845 0.00010
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107 0.00009
NM_001044385.3(TMEM237):c.*492T>C rs530304720 0.00009
NM_001044385.3(TMEM237):c.-61G>A rs571550977 0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) rs375077045 0.00009
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=) rs758878104 0.00009
NM_001127222.2(CACNA1A):c.2105-15C>T rs190471428 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr) rs371424977 0.00009
NM_001329943.3(KIAA0586):c.411-1359T>G rs1051790402 0.00009
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713 0.00009
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) rs761916499 0.00009
NM_001378452.1(ITPR1):c.*580T>G rs1266500433 0.00009
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.4314+12C>T rs775304664 0.00009
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) rs371681100 0.00009
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) rs201884732 0.00009
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) rs763390190 0.00009
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 0.00009
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs199595486 0.00009
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg) rs565257577 0.00009
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) rs201966169 0.00009
NM_006946.4(SPTBN2):c.*61G>A rs566929715 0.00009
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.6940-11T>C rs551276248 0.00009
NM_014053.4(FLVCR1):c.*2480T>G rs886045941 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg) rs146589155 0.00009
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_016373.4(WWOX):c.19G>A (p.Ala7Thr) rs371392600 0.00009
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln) rs199625891 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_016373.4(WWOX):c.482C>T (p.Ala161Val) rs369055872 0.00009
NM_016464.5(TMEM138):c.128+3G>T rs754691659 0.00009
NM_017791.3(FLVCR2):c.*510A>G rs182904017 0.00009
NM_018075.5(ANO10):c.*418T>C rs1009967018 0.00009
NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn) rs187425614 0.00009
NM_018075.5(ANO10):c.799A>G (p.Asn267Asp) rs143322256 0.00009
NM_018319.4(TDP1):c.*776T>C rs761481355 0.00009
NM_018319.4(TDP1):c.15C>T (p.Gly5=) rs779666160 0.00009
NM_018718.3(CEP41):c.*1644A>G rs533265295 0.00009
NM_018718.3(CEP41):c.*2111A>G rs180725211 0.00009
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) rs527612343 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro) rs185697854 0.00009
NM_024411.4(PDYN):c.-241G>C rs574928545 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_033064.5(ATCAY):c.*1632T>C rs546859649 0.00009
NM_033064.5(ATCAY):c.*2742C>T rs769121113 0.00009
NM_033064.5(ATCAY):c.*740G>A rs569661909 0.00009
NM_033064.5(ATCAY):c.359-14C>T rs753594529 0.00009
NM_182961.4(SYNE1):c.-305G>T rs949603195 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln) rs763557674 0.00009
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785 0.00009
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878 0.00009
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp) rs767636254 0.00009
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr) rs150761564 0.00009
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val) rs143916942 0.00009
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000 0.00009
NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile) rs771840766 0.00009
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His) rs199962439 0.00009
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro) rs752135269 0.00009
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met) rs767144952 0.00009
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile) rs757079165 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669 0.00009
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu) rs138707300 0.00009
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met) rs145185413 0.00009
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_182961.4(SYNE1):c.21195+12A>G rs200930593 0.00009
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser) rs150723622 0.00009
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541 0.00009
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala) rs746347703 0.00009
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=) rs201537074 0.00009
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116 0.00009
NM_182961.4(SYNE1):c.24977-5C>T rs767722883 0.00009
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met) rs147814237 0.00009
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln) rs575386895 0.00009
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile) rs148785548 0.00009
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546 0.00009
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005 0.00009
NM_198994.3(TGM6):c.990-6T>C rs370391681 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845 0.00008
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met) rs776992864 0.00008
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val) rs181400417 0.00008
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) rs372259984 0.00008
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly) rs376113173 0.00008
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile) rs369067010 0.00008
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val) rs200405048 0.00008
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720 0.00008
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763 0.00008
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys) rs770075138 0.00008
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) rs367949127 0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr) rs146513720 0.00008
NM_003383.5(VLDLR):c.639C>T (p.Asp213=) rs779155452 0.00008
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768 0.00008
NM_005245.4(FAT1):c.1940C>T (p.Ala647Val) rs200988247 0.00008
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr) rs759505522 0.00008
NM_006946.4(SPTBN2):c.5884C>T (p.Arg1962Cys) rs200370228 0.00008
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) rs190623423 0.00008
NM_014363.6(SACS):c.10482A>G (p.Leu3494=) rs149643158 0.00008
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val) rs142926244 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile) rs892392514 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_016169.4(SUFU):c.*907C>G rs886046655 0.00008
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_016373.4(WWOX):c.635C>T (p.Ala212Val) rs202006159 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_018319.4(TDP1):c.-8+15T>C rs767166629 0.00008
NM_018718.3(CEP41):c.*3965A>G rs781992723 0.00008
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) rs747028553 0.00008
NM_020247.5(COQ8A):c.*570T>C rs778729725 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_024411.5(PDYN):c.*522C>T rs886056532 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln) rs138498390 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_033064.5(ATCAY):c.*838G>A rs1306758402 0.00008
NM_152703.5(SAMD9L):c.4508C>T (p.Thr1503Ile) rs372802865 0.00008
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys) rs550171329 0.00008
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val) rs151250199 0.00008
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala) rs780396166 0.00008
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp) rs749005373 0.00008
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp) rs140567583 0.00008
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His) rs746141355 0.00008
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln) rs774319570 0.00008
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His) rs766462111 0.00008
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His) rs191723029 0.00008
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=) rs776288515 0.00008
NM_182961.4(SYNE1):c.25625G>A (p.Arg8542Gln) rs538407539 0.00008
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807 0.00008
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) rs774776856 0.00008
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys) rs187117263 0.00008
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln) rs374482089 0.00008
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn) rs151039167 0.00008
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr) rs141821444 0.00008
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro) rs56308121 0.00008
NM_198994.3(TGM6):c.1170C>T (p.Phe390=) rs765423180 0.00008
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) rs578253592 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr) rs368735609 0.00007
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001173990.3(TMEM216):c.*525T>G rs982189283 0.00007
NM_001278064.2(GRM1):c.1165A>C (p.Asn389His) rs769064791 0.00007
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys) rs766453312 0.00007
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met) rs370778483 0.00007
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963 0.00007
NM_001378452.1(ITPR1):c.*243G>A rs963189027 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His) rs200212002 0.00007
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg) rs767318500 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp) rs1024300760 0.00007
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys) rs185130908 0.00007
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) rs200546493 0.00007
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) rs181079660 0.00007
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg) rs775754786 0.00007
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) rs775759544 0.00007
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser) rs200114105 0.00007
NM_003383.5(VLDLR):c.-207G>A rs1429851395 0.00007
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln) rs370575901 0.00007
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys) rs137983175 0.00007
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser) rs771838754 0.00007
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn) rs749668335 0.00007
NM_005245.4(FAT1):c.8041C>T (p.Pro2681Ser) rs369221848 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) rs9552930 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_016169.4(SUFU):c.625C>T (p.His209Tyr) rs770678862 0.00007
NM_016373.4(WWOX):c.443G>C (p.Gly148Ala) rs372660669 0.00007
NM_016373.4(WWOX):c.981G>A (p.Met327Ile) rs758307666 0.00007
NM_018718.3(CEP41):c.*1284A>G rs376297063 0.00007
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly) rs781835148 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_033064.5(ATCAY):c.*1409T>C rs886054421 0.00007
NM_033064.5(ATCAY):c.*3136A>T rs569189077 0.00007
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met) rs148158986 0.00007
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln) rs781427258 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val) rs772814249 0.00007
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821 0.00007
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250 0.00007
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265 0.00007
NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu) rs919427159 0.00007
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile) rs373619878 0.00007
NM_198994.3(TGM6):c.834C>T (p.Ala278=) rs371740473 0.00007
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000370.3(TTPA):c.*934C>T rs776683493 0.00006
NM_000370.3(TTPA):c.355A>G (p.Ile119Val) rs766200402 0.00006
NM_000370.3(TTPA):c.75G>C (p.Gln25His) rs751638180 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met) rs149366157 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_001044385.3(TMEM237):c.*1560C>T rs983166297 0.00006
NM_001044385.3(TMEM237):c.*3992A>G rs768173661 0.00006
NM_001044385.3(TMEM237):c.1160-1G>A rs747465681 0.00006
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln) rs368402335 0.00006
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) rs762041003 0.00006
NM_001077418.3(TMEM231):c.582+6A>G rs376300743 0.00006
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) rs548699524 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00006
NM_001130823.3(DNMT1):c.*211G>C rs772999851 0.00006
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) rs781301028 0.00006
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) rs758190156 0.00006
NM_001134831.2(AHI1):c.10+13T>C rs973391845 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187 0.00006
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00006
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) rs144021458 0.00006
NM_001173990.3(TMEM216):c.*372C>T rs565159932 0.00006
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001195248.2(APTX):c.*605G>A rs545625482 0.00006
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) rs117041645 0.00006
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr) rs192397712 0.00006
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768 0.00006
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His) rs1214561950 0.00006
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu) rs376649351 0.00006
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys) rs755889131 0.00006
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser) rs201702546 0.00006
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys) rs373649439 0.00006
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr) rs755205238 0.00006
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys) rs573870218 0.00006
NM_001329943.3(KIAA0586):c.807+3A>T rs771308299 0.00006
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) rs553130671 0.00006
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys) rs191232589 0.00006
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe) rs200854314 0.00006
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) rs774806132 0.00006
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) rs373515668 0.00006
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) rs774713377 0.00006
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr) rs374330054 0.00006
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr) rs533227813 0.00006
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp) rs757384412 0.00006
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr) rs376353407 0.00006
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg) rs371072368 0.00006
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) rs374765060 0.00006
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_001386140.1(MTTP):c.*1118C>T rs144013236 0.00006
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00006
NM_001386140.1(MTTP):c.393+11G>A rs367982075 0.00006
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met) rs375982037 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_002739.5(PRKCG):c.*426C>T rs1002891475 0.00006
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) rs114872818 0.00006
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=) rs372577949 0.00006
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile) rs17848383 0.00006
NM_003383.5(VLDLR):c.449-14C>G rs370176704 0.00006
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp) rs368040993 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp) rs140655170 0.00006
NM_006946.4(SPTBN2):c.1653+13C>T rs376349935 0.00006
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_014053.4(FLVCR1):c.*114C>T rs184177347 0.00006
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482 0.00006
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg) rs1299454627 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.169G>C (p.Glu57Gln) rs1021024627 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) rs200350631 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520 0.00006
NM_014363.6(SACS):c.954A>G (p.Leu318=) rs147412202 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014363.6(SACS):c.9551G>A (p.Arg3184His) rs200453385 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_015046.7(SETX):c.*1523A>G rs758582946 0.00006
NM_015046.7(SETX):c.*1534G>A rs886063548 0.00006
NM_015046.7(SETX):c.*2610T>G rs530469492 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015160.3(PMPCA):c.258G>C (p.Gln86His) rs141305380 0.00006
NM_015272.5(RPGRIP1L):c.*1276G>A rs375800554 0.00006
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090 0.00006
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr) rs148356821 0.00006
NM_016169.4(SUFU):c.*520G>A rs757315966 0.00006
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr) rs748099523 0.00006
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile) rs768935165 0.00006
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr) rs199585408 0.00006
NM_016373.4(WWOX):c.925C>T (p.Arg309Cys) rs761545702 0.00006
NM_016373.4(WWOX):c.958G>A (p.Ala320Thr) rs368670215 0.00006
NM_016464.5(TMEM138):c.*354C>G rs889868449 0.00006
NM_016464.5(TMEM138):c.*547C>T rs781358495 0.00006
NM_016464.5(TMEM138):c.-164T>C rs886048407 0.00006
NM_017872.5(THG1L):c.137C>A (p.Thr46Asn) rs746295635 0.00006
NM_018012.4(KIF26B):c.2605G>A (p.Gly869Arg) rs199690740 0.00006
NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg) rs761659935 0.00006
NM_018319.4(TDP1):c.*904C>T rs886050884 0.00006
NM_018319.4(TDP1):c.789C>T (p.His263=) rs562317662 0.00006
NM_018718.3(CEP41):c.*1411G>T rs886061996 0.00006
NM_018718.3(CEP41):c.*409A>C rs782042681 0.00006
NM_018718.3(CEP41):c.*776G>A rs374833862 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018718.3(CEP41):c.407G>A (p.Arg136His) rs546106020 0.00006
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys) rs779077930 0.00006
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val) rs141687205 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_024411.4(PDYN):c.-358G>A rs745377265 0.00006
NM_024411.5(PDYN):c.*636G>C rs993395808 0.00006
NM_024411.5(PDYN):c.616C>T (p.Arg206Cys) rs575606358 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_033064.5(ATCAY):c.*2395G>A rs550621569 0.00006
NM_033064.5(ATCAY):c.*3377G>A rs975924890 0.00006
NM_033064.5(ATCAY):c.*3415G>A rs546687056 0.00006
NM_033064.5(ATCAY):c.647+14C>T rs755568668 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala) rs202162088 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_173500.4(TTBK2):c.*847T>C rs567667407 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly) rs201621810 0.00006
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=) rs377049622 0.00006
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp) rs146919170 0.00006
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu) rs375752705 0.00006
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys) rs148935596 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val) rs145639107 0.00006
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr) rs201900423 0.00006
NM_182961.4(SYNE1):c.13208C>T (p.Ser4403Leu) rs139490297 0.00006
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) rs75153800 0.00006
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala) rs149081144 0.00006
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln) rs1267929537 0.00006
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369 0.00006
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro) rs371189077 0.00006
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val) rs143910248 0.00006
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His) rs561648669 0.00006
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile) rs557729565 0.00006
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900 0.00006
NM_182961.4(SYNE1):c.19693-15G>A rs187885923 0.00006
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys) rs781626097 0.00006
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln) rs143900928 0.00006
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile) rs371476665 0.00006
NM_182961.4(SYNE1):c.25283C>A (p.Ala8428Glu) rs775901718 0.00006
NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro) rs770802176 0.00006
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His) rs144888773 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser) rs750010888 0.00006
NM_182961.4(SYNE1):c.336C>T (p.Thr112=) rs149008539 0.00006
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_182961.4(SYNE1):c.3872A>G (p.Asp1291Gly) rs148000801 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln) rs149606474 0.00006
NM_182961.4(SYNE1):c.4819A>G (p.Ser1607Gly) rs752342922 0.00006
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233 0.00006
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly) rs555731770 0.00006
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr) rs772266857 0.00006
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly) rs557081125 0.00006
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys) rs747706541 0.00006
NM_182961.4(SYNE1):c.581+7A>G rs367617527 0.00006
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765 0.00006
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys) rs367594476 0.00006
NM_182961.4(SYNE1):c.666G>A (p.Pro222=) rs141368652 0.00006
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00006
NM_182961.4(SYNE1):c.7474G>T (p.Ala2492Ser) rs761396972 0.00006
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser) rs763615170 0.00006
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys) rs140568392 0.00006
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn) rs77221231 0.00006
NM_182961.4(SYNE1):c.9807+6G>A rs376694958 0.00006
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val) rs373760161 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_000370.3(TTPA):c.*1716T>C rs1029598636 0.00005
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542 0.00005
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000784.4(CYP27A1):c.1185-3C>A rs373628198 0.00005
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp) rs570721628 0.00005
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val) rs372772968 0.00005
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg) rs751804153 0.00005
NM_001044385.3(TMEM237):c.*3385C>T rs374762322 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001077418.2(TMEM231):c.-62A>C rs964025567 0.00005
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) rs200284291 0.00005
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser) rs1054781365 0.00005
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser) rs563531719 0.00005
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220 0.00005
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) rs35343277 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His) rs186194682 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val) rs201536815 0.00005
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile) rs772097768 0.00005
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp) rs759299114 0.00005
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) rs376210928 0.00005
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly) rs559765139 0.00005
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln) rs779204541 0.00005
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His) rs375978348 0.00005
NM_001382391.1(CSPP1):c.2710+6G>A rs369255080 0.00005
NM_001386140.1(MTTP):c.173G>A (p.Arg58His) rs201464944 0.00005
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys) rs148696330 0.00005
NM_002739.5(PRKCG):c.*184C>T rs764816557 0.00005
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022 0.00005
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn) rs768045623 0.00005
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn) rs113347960 0.00005
NM_003383.5(VLDLR):c.921C>T (p.Ser307=) rs777240049 0.00005
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr) rs754831171 0.00005
NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr) rs1365532889 0.00005
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) rs757932120 0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp) rs148878156 0.00005
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr) rs199675740 0.00005
NM_014053.4(FLVCR1):c.*1422T>A rs138620842 0.00005
NM_014053.4(FLVCR1):c.*1549A>G rs1332609883 0.00005
NM_014053.4(FLVCR1):c.1525+13G>A rs377087497 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.3729A>G (p.Glu1243=) rs756663705 0.00005
NM_014363.6(SACS):c.396A>G (p.Leu132=) rs1256540997 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg) rs199998045 0.00005
NM_014363.6(SACS):c.51C>T (p.Cys17=) rs763979020 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met) rs755920468 0.00005
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser) rs776251343 0.00005
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr) rs146889077 0.00005
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln) rs756615407 0.00005
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) rs761921681 0.00005
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 0.00005
NM_016373.4(WWOX):c.445G>A (p.Ala149Thr) rs200820063 0.00005
NM_016373.4(WWOX):c.508G>A (p.Glu170Lys) rs758121265 0.00005
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val) rs745506522 0.00005
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala) rs764405866 0.00005
NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val) rs559975316 0.00005
NM_018075.5(ANO10):c.1288C>T (p.Arg430Cys) rs200570277 0.00005
NM_018718.3(CEP41):c.*1352G>A rs1380245671 0.00005
NM_018718.3(CEP41):c.*1538A>C rs777673385 0.00005
NM_018718.3(CEP41):c.*3193C>T rs886061989 0.00005
NM_018718.3(CEP41):c.*4769C>T rs965337048 0.00005
NM_018718.3(CEP41):c.*614A>G rs781791465 0.00005
NM_018718.3(CEP41):c.*682A>G rs782649697 0.00005
NM_018718.3(CEP41):c.*881G>A rs782801860 0.00005
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=) rs567318021 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr) rs147812454 0.00005
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_024411.5(PDYN):c.538C>T (p.Arg180Cys) rs370283678 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_033064.5(ATCAY):c.*1801T>C rs537102677 0.00005
NM_033064.5(ATCAY):c.*2265G>A rs886054423 0.00005
NM_033064.5(ATCAY):c.*2996G>A rs886054427 0.00005
NM_033064.5(ATCAY):c.*958G>A rs901656902 0.00005
NM_033064.5(ATCAY):c.370G>A (p.Val124Met) rs147684273 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_153816.6(SNX14):c.140+9G>A rs751616334 0.00005
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys) rs200437800 0.00005
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp) rs145117891 0.00005
NM_182961.4(SYNE1):c.10443+5G>A rs557835636 0.00005
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile) rs760680769 0.00005
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr) rs141719907 0.00005
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly) rs377526133 0.00005
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr) rs775930653 0.00005
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr) rs368653411 0.00005
NM_182961.4(SYNE1):c.16094C>T (p.Thr5365Ile) rs1273141730 0.00005
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser) rs773901491 0.00005
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg) rs144714939 0.00005
NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu) rs769058871 0.00005
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166 0.00005
NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys) rs200360218 0.00005
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg) rs572189966 0.00005
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp) rs368534747 0.00005
NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met) rs184210675 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His) rs760706012 0.00005
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787 0.00005
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn) rs779301586 0.00005
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521 0.00005
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile) rs760451139 0.00005
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met) rs374866393 0.00005
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167 0.00005
NM_182961.4(SYNE1):c.23168G>A (p.Ser7723Asn) rs146280967 0.00005
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258 0.00005
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys) rs772622270 0.00005
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys) rs139885317 0.00005
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=) rs771221504 0.00005
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn) rs748216902 0.00005
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg) rs759004104 0.00005
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met) rs139560053 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_182961.4(SYNE1):c.3269T>G (p.Val1090Gly) rs539464964 0.00005
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys) rs754120599 0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg) rs769420760 0.00005
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061 0.00005
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val) rs528549317 0.00005
NM_182961.4(SYNE1):c.8222G>A (p.Arg2741Lys) rs181218387 0.00005
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr) rs756079906 0.00005
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_198994.3(TGM6):c.181+10C>T rs780460166 0.00005
NM_000144.5(FXN):c.146C>A (p.Thr49Asn) rs995690945 0.00004
NM_000253.4(MTTP):c.-153C>G rs886058954 0.00004
NM_000370.3(TTPA):c.*1486C>T rs535310725 0.00004
NM_000370.3(TTPA):c.352A>G (p.Arg118Gly) rs751549880 0.00004
NM_000370.3(TTPA):c.616G>A (p.Val206Ile) rs554118281 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00004
NM_001044385.3(TMEM237):c.*1108A>G rs758086204 0.00004
NM_001044385.3(TMEM237):c.*2964T>A rs955949981 0.00004
NM_001044385.3(TMEM237):c.*74T>C rs190276722 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp) rs370790275 0.00004
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met) rs755252433 0.00004
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met) rs374042611 0.00004
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro) rs200892635 0.00004
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val) rs374399278 0.00004
NM_001077418.3(TMEM231):c.140-33C>T rs901311435 0.00004
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098 0.00004
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln) rs756494100 0.00004
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr) rs770469234 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His) rs753292136 0.00004
NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser) rs368545314 0.00004
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr) rs370786558 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser) rs775905402 0.00004
NM_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) rs142133683 0.00004
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His) rs773375756 0.00004
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser) rs773524165 0.00004
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala) rs774592908 0.00004
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg) rs749825699 0.00004
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser) rs967603971 0.00004
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His) rs200490147 0.00004
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu) rs772256006 0.00004
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu) rs1049863128 0.00004
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr) rs368136238 0.00004
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly) rs761946256 0.00004
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg) rs374096160 0.00004
NM_001329943.3(KIAA0586):c.4495+3791G>A rs924361010 0.00004
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala) rs199837404 0.00004
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643 0.00004
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val) rs150118849 0.00004
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 0.00004
NM_001377405.1(ATXN7):c.2120G>A (p.Arg707His) rs368917711 0.00004
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr) rs768179678 0.00004
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.709-6T>C rs374932152 0.00004
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser) rs1372095738 0.00004
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr) rs371566997 0.00004
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg) rs763307442 0.00004
NM_001382391.1(CSPP1):c.1827+5T>C rs897591892 0.00004
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe) rs374318063 0.00004
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp) rs778822396 0.00004
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys) rs753718429 0.00004
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) rs750443075 0.00004
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) rs768603321 0.00004
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) rs201972175 0.00004
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly) rs374744285 0.00004
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu) rs761172555 0.00004
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn) rs113092257 0.00004
NM_001386140.1(MTTP):c.*826T>C rs960548926 0.00004
NM_001386140.1(MTTP):c.*98T>A rs886058961 0.00004
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) rs371307089 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.163G>A (p.Val55Met) rs369453726 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=) rs761984561 0.00004
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val) rs764357849 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr) rs759200881 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 0.00004
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln) rs137870998 0.00004
NM_003383.5(VLDLR):c.*281G>C rs753515879 0.00004
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310 0.00004
NM_003383.5(VLDLR):c.2416+13C>T rs200878136 0.00004
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439 0.00004
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln) rs369627815 0.00004
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122 0.00004
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880 0.00004
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191 0.00004
NM_003640.5(ELP1):c.2861-12T>G rs746590157 0.00004
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377 0.00004
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala) rs1286140759 0.00004
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) rs148548795 0.00004
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) rs201460139 0.00004
NM_004115.4(FGF14):c.477C>T (p.Ser159=) rs776794756 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_004977.3(KCNC3):c.751G>A (p.Gly251Ser) rs953647148 0.00004
NM_005245.4(FAT1):c.6808G>A (p.Asp2270Asn) rs200538725 0.00004
NM_006796.3(AFG3L2):c.*373G>A rs886053612 0.00004
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr) rs758811358 0.00004
NM_006946.4(SPTBN2):c.*228dup rs886048544 0.00004
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=) rs374787500 0.00004
NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys) rs372241839 0.00004
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=) rs141779130 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_014053.4(FLVCR1):c.*8G>A rs886045929 0.00004
NM_014053.4(FLVCR1):c.-104G>A rs1195891357 0.00004
NM_014053.4(FLVCR1):c.-36G>A rs886045922 0.00004
NM_014363.6(SACS):c.*1200A>G rs558041482 0.00004
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr) rs761189797 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.11576G>A (p.Arg3859His) rs149427669 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr) rs761791412 0.00004
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro) rs770677319 0.00004
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg) rs761960824 0.00004
NM_014363.6(SACS):c.346-3T>A rs186506382 0.00004
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) rs374961109 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040 0.00004
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys) rs764516788 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr) rs202144442 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro) rs775506976 0.00004
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694 0.00004
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val) rs147636995 0.00004
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser) rs373331254 0.00004
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val) rs769280712 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val) rs966474941 0.00004
NM_016169.4(SUFU):c.*2267G>T rs886046660 0.00004
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val) rs991500079 0.00004
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln) rs149016373 0.00004
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp) rs768170991 0.00004
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln) rs373148311 0.00004
NM_016373.4(WWOX):c.164T>C (p.Val55Ala) rs775944673 0.00004
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu) rs201008667 0.00004
NM_016373.4(WWOX):c.322G>A (p.Asp108Asn) rs747575799 0.00004
NM_016373.4(WWOX):c.605T>G (p.Val202Gly) rs112636835 0.00004
NM_016373.4(WWOX):c.673C>G (p.Leu225Val) rs376040091 0.00004
NM_016373.4(WWOX):c.721C>G (p.Gln241Glu) rs540386692 0.00004
NM_016373.4(WWOX):c.760C>T (p.Arg254Cys) rs369715848 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile) rs763118625 0.00004
NM_016464.5(TMEM138):c.377-3C>T rs774110963 0.00004
NM_017791.3(FLVCR2):c.*1588A>C rs764448107 0.00004
NM_017791.3(FLVCR2):c.*1672G>A rs569521792 0.00004
NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu) rs372243784 0.00004
NM_018075.5(ANO10):c.*164C>T rs1025591959 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_018075.5(ANO10):c.592+3A>G rs775510692 0.00004
NM_018319.4(TDP1):c.*1200G>A rs758892109 0.00004
NM_018319.4(TDP1):c.*37T>C rs374710359 0.00004
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr) rs202165305 0.00004
NM_018718.3(CEP41):c.*3451G>A rs144534675 0.00004
NM_018718.3(CEP41):c.*4385C>T rs556578226 0.00004
NM_018718.3(CEP41):c.*747G>A rs782582354 0.00004
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716 0.00004
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly) rs782048004 0.00004
NM_018718.3(CEP41):c.716T>C (p.Met239Thr) rs200882016 0.00004
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu) rs200709703 0.00004
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg) rs782392521 0.00004
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=) rs764541059 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln) rs145422777 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala) rs145709743 0.00004
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) rs1478296366 0.00004
NM_024411.5(PDYN):c.*261C>T rs886056534 0.00004
NM_024411.5(PDYN):c.*320C>T rs1022899056 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_033064.5(ATCAY):c.*1761C>T rs777283516 0.00004
NM_033064.5(ATCAY):c.*939G>A rs886054419 0.00004
NM_033064.5(ATCAY):c.420C>T (p.Asp140=) rs548256146 0.00004
NM_033064.5(ATCAY):c.957C>T (p.Cys319=) rs370680121 0.00004
NM_152703.5(SAMD9L):c.483G>T (p.Leu161Phe) rs375402434 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys) rs776816480 0.00004
NM_182961.4(SYNE1):c.10658T>C (p.Leu3553Pro) rs774759366 0.00004
NM_182961.4(SYNE1):c.11246C>T (p.Thr3749Met) rs778034684 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.11302C>T (p.Arg3768Trp) rs371013745 0.00004
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg) rs780693119 0.00004
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg) rs76410834 0.00004
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu) rs780637080 0.00004
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His) rs190032752 0.00004
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu) rs772000149 0.00004
NM_182961.4(SYNE1):c.12099C>T (p.His4033=) rs375862387 0.00004
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu) rs148036239 0.00004
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys) rs762119902 0.00004
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val) rs150409035 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_182961.4(SYNE1):c.13431G>A (p.Met4477Ile) rs1007433720 0.00004
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His) rs148248006 0.00004
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys) rs371375804 0.00004
NM_182961.4(SYNE1):c.14291G>A (p.Arg4764Gln) rs745701031 0.00004
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val) rs767978898 0.00004
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala) rs534678815 0.00004
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys) rs780258342 0.00004
NM_182961.4(SYNE1):c.14984G>A (p.Cys4995Tyr) rs765800192 0.00004
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys) rs757086609 0.00004
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met) rs202105931 0.00004
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln) rs776100963 0.00004
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His) rs753544584 0.00004
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698 0.00004
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln) rs367925174 0.00004
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val) rs763218931 0.00004
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser) rs767508394 0.00004
NM_182961.4(SYNE1):c.17780C>T (p.Pro5927Leu) rs145085256 0.00004
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His) rs746220387 0.00004
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279 0.00004
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala) rs146618884 0.00004
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser) rs868377407 0.00004
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr) rs143594709 0.00004
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730 0.00004
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln) rs774558249 0.00004
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile) rs563568189 0.00004
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp) rs140903556 0.00004
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile) rs769943110 0.00004
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg) rs752508132 0.00004
NM_182961.4(SYNE1):c.21249G>T (p.Gln7083His) rs777155965 0.00004
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser) rs778441411 0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974 0.00004
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His) rs776733924 0.00004
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr) rs190781696 0.00004
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val) rs139077054 0.00004
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=) rs200800604 0.00004
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val) rs746456193 0.00004
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys) rs769930534 0.00004
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861 0.00004
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223 0.00004
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln) rs200137670 0.00004
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln) rs369073682 0.00004
NM_182961.4(SYNE1):c.24977-1719A>G rs202030113 0.00004
NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys) rs755199419 0.00004
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=) rs369691475 0.00004
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe) rs757463285 0.00004
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met) rs759512753 0.00004
NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu) rs191807870 0.00004
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=) rs746159592 0.00004
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu) rs747635401 0.00004
NM_182961.4(SYNE1):c.3186+4C>T rs747984490 0.00004
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg) rs149415204 0.00004
NM_182961.4(SYNE1):c.3497C>T (p.Ala1166Val) rs765122984 0.00004
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val) rs200629713 0.00004
NM_182961.4(SYNE1):c.3670-4A>G rs377058395 0.00004
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln) rs774093065 0.00004
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp) rs200763530 0.00004
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728 0.00004
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala) rs377718960 0.00004
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val) rs767783076 0.00004
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln) rs760544014 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_182961.4(SYNE1):c.509G>A (p.Arg170Gln) rs779239788 0.00004
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060 0.00004
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp) rs763781396 0.00004
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg) rs779891217 0.00004
NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu) rs150249753 0.00004
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro) rs375773340 0.00004
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser) rs377180714 0.00004
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro) rs757960938 0.00004
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182 0.00004
NM_182961.4(SYNE1):c.888+4G>C rs749258298 0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_198994.3(TGM6):c.1093+10A>G rs375737445 0.00004
NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro) rs984559925 0.00004
NM_198994.3(TGM6):c.543+7A>G rs755777005 0.00004
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000370.3(TTPA):c.*239C>T rs761554482 0.00003
NM_000370.3(TTPA):c.-18G>A rs764083716 0.00003
NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys) rs368131865 0.00003
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834 0.00003
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107 0.00003
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161 0.00003
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00003
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 0.00003
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser) rs371510438 0.00003
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) rs1364383591 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala) rs1046723537 0.00003
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu) rs773892447 0.00003
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His) rs761927223 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln) rs556715266 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00003
NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys) rs782683285 0.00003
NM_001001344.3(ATP2B3):c.2105G>A (p.Arg702His) rs782587313 0.00003
NM_001001344.3(ATP2B3):c.2357G>A (p.Arg786Gln) rs201426629 0.00003
NM_001044385.3(TMEM237):c.*3697G>A rs761856568 0.00003
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr) rs776825848 0.00003
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp) rs972949531 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly) rs771350638 0.00003
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr) rs772074875 0.00003
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val) rs768672107 0.00003
NM_001044385.3(TMEM237):c.869+4A>G rs771107990 0.00003
NM_001077418.2(TMEM231):c.-46G>A rs752769188 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn) rs769321473 0.00003
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln) rs1033608835 0.00003
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) rs755151805 0.00003
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) rs766504703 0.00003
NM_001134831.2(AHI1):c.*1684T>C rs75518881 0.00003
NM_001134831.2(AHI1):c.*387T>G rs886061107 0.00003
NM_001134831.2(AHI1):c.*588A>G rs555215397 0.00003
NM_001134831.2(AHI1):c.-347C>T rs1456963108 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001173990.3(TMEM216):c.*93T>C rs746881860 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) rs886063858 0.00003
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu) rs1432380664 0.00003
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser) rs1168640996 0.00003
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro) rs375472516 0.00003
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn) rs556030955 0.00003
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr) rs752363556 0.00003
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln) rs372212501 0.00003
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn) rs770913768 0.00003
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr) rs767605168 0.00003
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val) rs777965178 0.00003
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg) rs767855931 0.00003
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala) rs962979142 0.00003
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys) rs375085808 0.00003
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr) rs773960033 0.00003
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met) rs747277541 0.00003
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) rs17540728 0.00003
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717 0.00003
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445 0.00003
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566 0.00003
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189 0.00003
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=) rs886058616 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00003
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) rs199637120 0.00003
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr) rs774711788 0.00003
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr) rs143933558 0.00003
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val) rs775268714 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys) rs759265787 0.00003
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met) rs375847469 0.00003
NM_001382391.1(CSPP1):c.1975+4C>T rs779380282 0.00003
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln) rs763911288 0.00003
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln) rs780070875 0.00003
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys) rs374169543 0.00003
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) rs767140972 0.00003
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) rs199738369 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) rs1421998303 0.00003
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) rs781579090 0.00003
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys) rs770271054 0.00003
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) rs199831541 0.00003
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser) rs769726340 0.00003
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu) rs765341695 0.00003
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro) rs1249405862 0.00003
NM_001510.4(GRID2):c.899G>A (p.Arg300His) rs201635818 0.00003
NM_002739.5(PRKCG):c.*481T>C rs886054616 0.00003
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=) rs556667568 0.00003
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu) rs1360248213 0.00003
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser) rs371150001 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs376671881 0.00003
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp) rs766255360 0.00003
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070 0.00003
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) rs756919296 0.00003
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557 0.00003
NM_003640.5(ELP1):c.2386A>G (p.Met796Val) rs748482757 0.00003
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys) rs776891269 0.00003
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00003
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431 0.00003
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys) rs200941360 0.00003
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369 0.00003
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046 0.00003
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val) rs769146127 0.00003
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523 0.00003
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile) rs1370759222 0.00003
NM_003640.5(ELP1):c.859G>A (p.Val287Ile) rs755938001 0.00003
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_004115.4(FGF14):c.*777C>A rs886049936 0.00003
NM_005245.4(FAT1):c.544G>A (p.Gly182Arg) rs1425607166 0.00003
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp) rs200514577 0.00003
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=) rs774265056 0.00003
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_014053.4(FLVCR1):c.*1174C>T rs886045936 0.00003
NM_014053.4(FLVCR1):c.*1543C>G rs1665346561 0.00003
NM_014053.4(FLVCR1):c.*1548T>C rs1572032740 0.00003
NM_014053.4(FLVCR1):c.*2371A>G rs886045940 0.00003
NM_014053.4(FLVCR1):c.*3739G>A rs865806240 0.00003
NM_014053.4(FLVCR1):c.*839T>G rs886045932 0.00003
NM_014053.4(FLVCR1):c.*923T>C rs886045935 0.00003
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=) rs886045923 0.00003
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys) rs142749772 0.00003
NM_014363.6(SACS):c.*882A>C rs886050069 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) rs767281295 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met) rs1252737332 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.345+14C>T rs538944334 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288 0.00003
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073 0.00003
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala) rs201899988 0.00003
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) rs779195622 0.00003
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) rs1211858750 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp) rs145964068 0.00003
NM_015215.4(CAMTA1):c.439-60758C>T rs997317904 0.00003
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln) rs769010867 0.00003
NM_016169.4(SUFU):c.*2643C>G rs886046663 0.00003
NM_016169.4(SUFU):c.*376G>A rs866120174 0.00003
NM_016169.4(SUFU):c.*915G>C rs886046656 0.00003
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr) rs746448939 0.00003
NM_016169.4(SUFU):c.109A>G (p.Ile37Val) rs745793517 0.00003
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser) rs142672533 0.00003
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln) rs374946819 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr) rs767667847 0.00003
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp) rs750042007 0.00003
NM_016373.4(WWOX):c.167C>T (p.Ala56Val) rs530912550 0.00003
NM_016373.4(WWOX):c.251C>G (p.Thr84Ser) rs757145186 0.00003
NM_016373.4(WWOX):c.563G>A (p.Arg188His) rs771163284 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00003
NM_016373.4(WWOX):c.977T>C (p.Met326Thr) rs371996496 0.00003
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00003
NM_016464.5(TMEM138):c.*264C>G rs886048409 0.00003
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala) rs755251825 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp) rs750788154 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_018075.5(ANO10):c.1401G>T (p.Val467=) rs149580265 0.00003
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260 0.00003
NM_018075.5(ANO10):c.1710C>T (p.Asn570=) rs142862162 0.00003
NM_018319.4(TDP1):c.*264G>T rs779122283 0.00003
NM_018319.4(TDP1):c.*631C>T rs1027214918 0.00003
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) rs772139596 0.00003
NM_018319.4(TDP1):c.353C>T (p.Ala118Val) rs150113775 0.00003
NM_018319.4(TDP1):c.716A>G (p.His239Arg) rs750038981 0.00003
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu) rs142600338 0.00003
NM_018718.3(CEP41):c.*2669A>G rs905679390 0.00003
NM_018718.3(CEP41):c.*2849A>G rs1288708394 0.00003
NM_018718.3(CEP41):c.*3040G>A rs566129615 0.00003
NM_018718.3(CEP41):c.*3044A>G rs886061991 0.00003
NM_018718.3(CEP41):c.*333C>T rs886062000 0.00003
NM_018718.3(CEP41):c.*4007C>T rs782719854 0.00003
NM_018718.3(CEP41):c.*578T>C rs782132140 0.00003
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser) rs782131552 0.00003
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys) rs138907207 0.00003
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala) rs782769549 0.00003
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300 0.00003
NM_020247.5(COQ8A):c.*631C>G rs886046073 0.00003
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00003
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val) rs773489358 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile) rs778967806 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.355C>G (p.Leu119Val) rs758512287 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_024411.4(PDYN):c.-286G>C rs886056538 0.00003
NM_024411.5(PDYN):c.*1157T>G rs745852761 0.00003
NM_024411.5(PDYN):c.*561C>T rs886056531 0.00003
NM_024411.5(PDYN):c.*847T>C rs371550256 0.00003
NM_024411.5(PDYN):c.-19-1G>C rs769835663 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_033064.5(ATCAY):c.*1217A>C rs1459765640 0.00003
NM_033064.5(ATCAY):c.*3018C>T rs887057996 0.00003
NM_033064.5(ATCAY):c.*420C>T rs1044796308 0.00003
NM_033064.5(ATCAY):c.*512G>A rs964128076 0.00003
NM_033064.5(ATCAY):c.-170C>A rs1034699695 0.00003
NM_033064.5(ATCAY):c.1002C>T (p.Ser334=) rs767813874 0.00003
NM_033064.5(ATCAY):c.283G>A (p.Val95Met) rs1381590154 0.00003
NM_033064.5(ATCAY):c.568G>A (p.Ala190Thr) rs537155754 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_173500.4(TTBK2):c.*598G>A rs774535951 0.00003
NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys) rs767399781 0.00003
NM_173500.4(TTBK2):c.2295G>T (p.Leu765=) rs751381521 0.00003
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) rs576737530 0.00003
NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn) rs200469913 0.00003
NM_182961.4(SYNE1):c.-361G>T rs886061221 0.00003
NM_182961.4(SYNE1):c.10188T>G (p.Asp3396Glu) rs374839445 0.00003
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln) rs139691734 0.00003
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile) rs755180412 0.00003
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln) rs192623867 0.00003
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp) rs777447487 0.00003
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile) rs201487756 0.00003
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln) rs774322624 0.00003
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys) rs879779013 0.00003
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=) rs767967824 0.00003
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=) rs760332489 0.00003
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln) rs771461121 0.00003
NM_182961.4(SYNE1):c.12351G>A (p.Thr4117=) rs1272129870 0.00003
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu) rs779969031 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His) rs768085752 0.00003
NM_182961.4(SYNE1):c.13727A>G (p.His4576Arg) rs375344467 0.00003
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His) rs748256440 0.00003
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397 0.00003
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe) rs753473819 0.00003
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn) rs762502490 0.00003
NM_182961.4(SYNE1):c.14990G>A (p.Arg4997Lys) rs755654863 0.00003
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly) rs375432465 0.00003
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg) rs797046023 0.00003
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala) rs886044412 0.00003
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser) rs374220794 0.00003
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro) rs373679435 0.00003
NM_182961.4(SYNE1):c.17270C>T (p.Ala5757Val) rs766395351 0.00003
NM_182961.4(SYNE1):c.17656G>A (p.Ala5886Thr) rs774189380 0.00003
NM_182961.4(SYNE1):c.17758G>A (p.Ala5920Thr) rs765300968 0.00003
NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys) rs759380758 0.00003
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln) rs777432650 0.00003
NM_182961.4(SYNE1):c.18460G>T (p.Gly6154Cys) rs528094877 0.00003
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu) rs558425673 0.00003
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser) rs149624155 0.00003
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp) rs201873107 0.00003
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys) rs551488589 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys) rs758182381 0.00003
NM_182961.4(SYNE1):c.19022G>C (p.Gly6341Ala) rs769384397 0.00003
NM_182961.4(SYNE1):c.19138G>A (p.Glu6380Lys) rs758159968 0.00003
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln) rs768605521 0.00003
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr) rs763051329 0.00003
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met) rs553508431 0.00003
NM_182961.4(SYNE1):c.19807G>C (p.Glu6603Gln) rs140360127 0.00003
NM_182961.4(SYNE1):c.20164G>A (p.Glu6722Lys) rs370571896 0.00003
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His) rs139384691 0.00003
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007 0.00003
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=) rs762665527 0.00003
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu) rs139062689 0.00003
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu) rs766914765 0.00003
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly) rs759479600 0.00003
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg) rs764715827 0.00003
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile) rs777920461 0.00003
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His) rs752057121 0.00003
NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys) rs549357903 0.00003
NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp) rs755302191 0.00003
NM_182961.4(SYNE1):c.22807C>G (p.Leu7603Val) rs372246112 0.00003
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu) rs749743156 0.00003
NM_182961.4(SYNE1):c.23137C>T (p.Arg7713Cys) rs761198027 0.00003
NM_182961.4(SYNE1):c.23582A>G (p.Lys7861Arg) rs371656793 0.00003
NM_182961.4(SYNE1):c.23593C>T (p.Arg7865Trp) rs749900550 0.00003
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val) rs1055043180 0.00003
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr) rs780029496 0.00003
NM_182961.4(SYNE1):c.2394+5G>A rs199933019 0.00003
NM_182961.4(SYNE1):c.24038A>G (p.Asp8013Gly) rs766207775 0.00003
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779 0.00003
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264 0.00003
NM_182961.4(SYNE1):c.24226T>C (p.Cys8076Arg) rs756023993 0.00003
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys) rs373016793 0.00003
NM_182961.4(SYNE1):c.24499A>G (p.Ile8167Val) rs147285387 0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_182961.4(SYNE1):c.2474C>T (p.Thr825Met) rs777634676 0.00003
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu) rs188852595 0.00003
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr) rs886043013 0.00003
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys) rs527527845 0.00003
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu) rs748328529 0.00003
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=) rs758276004 0.00003
NM_182961.4(SYNE1):c.2759A>G (p.Lys920Arg) rs1395937709 0.00003
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn) rs990137456 0.00003
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala) rs764928878 0.00003
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe) rs886061212 0.00003
NM_182961.4(SYNE1):c.3691T>C (p.Phe1231Leu) rs146403390 0.00003
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala) rs141164314 0.00003
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe) rs544182159 0.00003
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His) rs142705233 0.00003
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys) rs373642960 0.00003
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val) rs138691290 0.00003
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys) rs148885424 0.00003
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg) rs567913785 0.00003
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys) rs184779168 0.00003
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010 0.00003
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) rs372524102 0.00003
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr) rs764200857 0.00003
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His) rs759461786 0.00003
NM_182961.4(SYNE1):c.7324C>A (p.Leu2442Ile) rs747633088 0.00003
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=) rs1268841274 0.00003
NM_182961.4(SYNE1):c.8056G>A (p.Gly2686Ser) rs146916975 0.00003
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr) rs371025400 0.00003
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln) rs747634832 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met) rs548283137 0.00003
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) rs762242728 0.00003
NM_198994.3(TGM6):c.674T>G (p.Val225Gly) rs1461093480 0.00003
NM_198994.3(TGM6):c.816C>T (p.Gly272=) rs368599004 0.00003
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe) rs750671399 0.00002
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe) rs876660249 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000370.3(TTPA):c.*1407G>A rs1805273393 0.00002
NM_000370.3(TTPA):c.*286C>G rs886063068 0.00002
NM_000370.3(TTPA):c.202C>A (p.Arg68=) rs973874631 0.00002
NM_000370.3(TTPA):c.522C>T (p.Ser174=) rs772020906 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) rs761448855 0.00002
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) rs751704816 0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205 0.00002
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 0.00002
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00002
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu) rs781360671 0.00002
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_001020658.2(PUM1):c.131C>T (p.Ser44Leu) rs528903842 0.00002
NM_001044385.3(TMEM237):c.137-3T>C rs540193518 0.00002
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser) rs1269827788 0.00002
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser) rs372581479 0.00002
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu) rs17856844 0.00002
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp) rs754056989 0.00002
NM_001077418.3(TMEM231):c.-17G>A rs768513169 0.00002
NM_001077418.3(TMEM231):c.139+17C>T rs759518508 0.00002
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln) rs771783989 0.00002
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser) rs775968168 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr) rs768932063 0.00002
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val) rs778298588 0.00002
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys) rs374279951 0.00002
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr) rs775383043 0.00002
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu) rs761280513 0.00002
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp) rs770715825 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) rs762006290 0.00002
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met) rs780098532 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) rs767308840 0.00002
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990 0.00002
NM_001130823.3(DNMT1):c.3394+4C>T rs781376510 0.00002
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) rs1186008456 0.00002
NM_001134831.2(AHI1):c.*1426A>T rs886061101 0.00002
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg) rs1387769677 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln) rs372888581 0.00002
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg) rs1192775388 0.00002
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) rs746252411 0.00002
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) rs886540540 0.00002
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu) rs1251319519 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001271696.3(ABCB7):c.1935+5G>C rs763223675 0.00002
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala) rs780301208 0.00002
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His) rs749710241 0.00002
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) rs1040832003 0.00002
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg) rs758553529 0.00002
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg) rs372160214 0.00002
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp) rs770532816 0.00002
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn) rs745459956 0.00002
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu) rs762324359 0.00002
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val) rs752597351 0.00002
NM_001329943.3(KIAA0586):c.2634+4A>G rs1373493143 0.00002
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn) rs780403471 0.00002
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr) rs757075176 0.00002
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val) rs778611816 0.00002
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser) rs1287641719 0.00002
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly) rs368583200 0.00002
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn) rs780444812 0.00002
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly) rs747213685 0.00002
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala) rs773967297 0.00002
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val) rs752970542 0.00002
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg) rs554032625 0.00002
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser) rs776582851 0.00002
NM_001329943.3(KIAA0586):c.411-1420A>G rs1037899594 0.00002
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val) rs890327400 0.00002
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln) rs746312329 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile) rs779264142 0.00002
NM_001376.5(DYNC1H1):c.*108G>A rs886050378 0.00002
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040 0.00002
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882 0.00002
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054 0.00002
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=) rs149028205 0.00002
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=) rs755543897 0.00002
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497 0.00002
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val) rs1412108587 0.00002
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg) rs1422291997 0.00002
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=) rs200885538 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu) rs376606208 0.00002
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=) rs886058613 0.00002
NM_001378452.1(ITPR1):c.1714-12C>T rs765853714 0.00002
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=) rs748274420 0.00002
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val) rs773701050 0.00002
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=) rs886058618 0.00002
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=) rs765524918 0.00002
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) rs748401794 0.00002
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) rs201934670 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln) rs764928165 0.00002
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) rs760907112 0.00002
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr) rs149488365 0.00002
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) rs533327313 0.00002
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr) rs373749366 0.00002
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr) rs781313362 0.00002
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp) rs746165769 0.00002
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp) rs369228037 0.00002
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr) rs751572039 0.00002
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His) rs376724794 0.00002
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His) rs775629891 0.00002
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) rs755275549 0.00002
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) rs200930857 0.00002
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) rs759630451 0.00002
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) rs201261521 0.00002
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) rs527426163 0.00002
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His) rs1386679081 0.00002
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser) rs765332591 0.00002
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys) rs749026327 0.00002
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys) rs114953032 0.00002
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) rs781737308 0.00002
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg) rs377496424 0.00002
NM_001386140.1(MTTP):c.*38G>A rs561157874 0.00002
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00002
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu) rs751715076 0.00002
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp) rs1419028802 0.00002
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe) rs146548751 0.00002
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg) rs759706918 0.00002
NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr) rs1443089616 0.00002
NM_002222.6(ITPR1):c.*1311G>A rs772889585 0.00002
NM_002739.5(PRKCG):c.-233C>T rs752173466 0.00002
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val) rs751774653 0.00002
NM_002739.5(PRKCG):c.529+11G>T rs886054612 0.00002
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123 0.00002
NM_003383.5(VLDLR):c.*192C>T rs763576733 0.00002
NM_003383.5(VLDLR):c.*21C>T rs776834603 0.00002
NM_003383.5(VLDLR):c.-121C>T rs886063803 0.00002
NM_003383.5(VLDLR):c.-154C>G rs985479340 0.00002
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr) rs778029251 0.00002
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala) rs770333327 0.00002
NM_003640.5(ELP1):c.1141G>A (p.Val381Met) rs769108524 0.00002
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe) rs745948468 0.00002
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val) rs772705478 0.00002
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp) rs200397694 0.00002
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser) rs201601641 0.00002
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys) rs1181862976 0.00002
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln) rs370041985 0.00002
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys) rs191464698 0.00002
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp) rs763312635 0.00002
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser) rs750563722 0.00002
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala) rs147069577 0.00002
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg) rs367582146 0.00002
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp) rs201168521 0.00002
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro) rs558588647 0.00002
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala) rs774585995 0.00002
NM_003640.5(ELP1):c.866T>C (p.Val289Ala) rs890474380 0.00002
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781 0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) rs781204167 0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089 0.00002
NM_004115.4(FGF14):c.*1296A>C rs540292614 0.00002
NM_004115.4(FGF14):c.651G>A (p.Thr217=) rs151325645 0.00002
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met) rs143464787 0.00002
NM_006796.3(AFG3L2):c.-56C>A rs886053619 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=) rs540897209 0.00002
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr) rs765561071 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu) rs376249009 0.00002
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) rs201138924 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_014053.3(FLVCR1):c.-181A>G rs886045921 0.00002
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) rs550517136 0.00002
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu) rs766483912 0.00002
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn) rs755239032 0.00002
NM_014363.6(SACS):c.*218T>C rs907847986 0.00002
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr) rs781590547 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11901A>G (p.Gln3967=) rs572068106 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp) rs375722463 0.00002
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179 0.00002
NM_014363.6(SACS):c.1608G>A (p.Pro536=) rs745730439 0.00002
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser) rs200831217 0.00002
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr) rs770007806 0.00002
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) rs763496360 0.00002
NM_014363.6(SACS):c.5466T>C (p.Thr1822=) rs757576348 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5906A>G (p.His1969Arg) rs776693219 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806 0.00002
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813 0.00002
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu) rs779973547 0.00002
NM_014363.6(SACS):c.7454A>T (p.His2485Leu) rs1420170258 0.00002
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu) rs377626385 0.00002
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) rs200106708 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys) rs761690372 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_015046.7(SETX):c.*1442T>G rs886063549 0.00002
NM_015046.7(SETX):c.*491G>A rs1285017063 0.00002
NM_015046.7(SETX):c.*666C>G rs886063551 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile) rs771168824 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) rs749395151 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys) rs200732212 0.00002
NM_015272.5(RPGRIP1L):c.*1206C>T rs1437795784 0.00002
NM_015272.5(RPGRIP1L):c.*822A>G rs554221378 0.00002
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn) rs759934290 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln) rs376330325 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.3835+3A>G rs769218955 0.00002
NM_016169.4(SUFU):c.*1908C>G rs764234968 0.00002
NM_016169.4(SUFU):c.*3025T>C rs896765914 0.00002
NM_016169.4(SUFU):c.*844G>A rs1032441274 0.00002
NM_016169.4(SUFU):c.1010A>G (p.His337Arg) rs377274250 0.00002
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys) rs766508656 0.00002
NM_016169.4(SUFU):c.1280A>G (p.His427Arg) rs771305734 0.00002
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg) rs772598739 0.00002
NM_016169.4(SUFU):c.169A>G (p.Ile57Val) rs377614167 0.00002
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser) rs141532626 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln) rs199673680 0.00002
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser) rs766666529 0.00002
NM_016169.4(SUFU):c.682A>G (p.Ile228Val) rs555976050 0.00002
NM_016169.4(SUFU):c.703A>G (p.Ile235Val) rs144666812 0.00002
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys) rs988284678 0.00002
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys) rs770155582 0.00002
NM_016373.4(WWOX):c.106A>G (p.Asn36Asp) rs1385155926 0.00002
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu) rs1474278988 0.00002
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu) rs1484856529 0.00002
NM_016373.4(WWOX):c.282G>A (p.Val94=) rs771301969 0.00002
NM_016373.4(WWOX):c.410-3T>C rs201178351 0.00002
NM_016373.4(WWOX):c.419C>A (p.Thr140Asn) rs750464034 0.00002
NM_016373.4(WWOX):c.439C>T (p.His147Tyr) rs746480783 0.00002
NM_016373.4(WWOX):c.440A>G (p.His147Arg) rs188859796 0.00002
NM_016373.4(WWOX):c.481G>A (p.Ala161Thr) rs779724017 0.00002
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_016373.4(WWOX):c.658C>G (p.Leu220Val) rs770774574 0.00002
NM_016373.4(WWOX):c.697C>A (p.His233Asn) rs757863128 0.00002
NM_016373.4(WWOX):c.748T>A (p.Ser250Thr) rs941156863 0.00002
NM_016373.4(WWOX):c.791+4G>T rs766952918 0.00002
NM_016373.4(WWOX):c.791+5G>C rs756074406 0.00002
NM_016373.4(WWOX):c.919C>G (p.Leu307Val) rs200320711 0.00002
NM_016373.4(WWOX):c.962T>C (p.Val321Ala) rs774783221 0.00002
NM_016373.4(WWOX):c.966T>A (p.His322Gln) rs750797952 0.00002
NM_016373.4(WWOX):c.997C>T (p.Arg333Cys) rs369281766 0.00002
NM_016464.5(TMEM138):c.*548G>A rs1565080891 0.00002
NM_016464.5(TMEM138):c.136G>C (p.Asp46His) rs375503806 0.00002
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys) rs202210746 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=) rs762529599 0.00002
NM_018075.4(ANO10):c.-140G>A rs886058485 0.00002
NM_018075.5(ANO10):c.1643C>A (p.Pro548His) rs538680619 0.00002
NM_018319.4(TDP1):c.-232A>C rs886050882 0.00002
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys) rs369742694 0.00002
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu) rs113382706 0.00002
NM_018718.3(CEP41):c.*2605C>T rs886061992 0.00002
NM_018718.3(CEP41):c.*277A>G rs886062001 0.00002
NM_018718.3(CEP41):c.*4417G>A rs886061988 0.00002
NM_018718.3(CEP41):c.*4464T>C rs886061987 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr) rs201490201 0.00002
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter) rs139909606 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser) rs781914996 0.00002
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe) rs782265732 0.00002
NM_018718.3(CEP41):c.653A>C (p.His218Pro) rs527896814 0.00002
NM_018718.3(CEP41):c.664A>G (p.Ile222Val) rs560824415 0.00002
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu) rs782241458 0.00002
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu) rs782704918 0.00002
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) rs781240948 0.00002
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) rs1295882768 0.00002
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) rs1433017716 0.00002
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys) rs767121010 0.00002
NM_020247.5(COQ8A):c.*613G>A rs537646948 0.00002
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066 0.00002
NM_020247.5(COQ8A):c.1257-9C>T rs200440257 0.00002
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_024411.5(PDYN):c.*827A>G rs886056530 0.00002
NM_024411.5(PDYN):c.724G>A (p.Glu242Lys) rs1181111571 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) rs887302155 0.00002
NM_033064.5(ATCAY):c.*1167G>A rs751398427 0.00002
NM_033064.5(ATCAY):c.*1276G>A rs974409532 0.00002
NM_033064.5(ATCAY):c.544+6dup rs749475336 0.00002
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser) rs774643105 0.00002
NM_152703.5(SAMD9L):c.3893G>A (p.Arg1298His) rs1010548594 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) rs556044910 0.00002
NM_173500.4(TTBK2):c.-282A>C rs949605219 0.00002
NM_182961.4(SYNE1):c.10039G>A (p.Val3347Ile) rs762448899 0.00002
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952 0.00002
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr) rs1489130675 0.00002
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys) rs531503159 0.00002
NM_182961.4(SYNE1):c.10568G>A (p.Gly3523Asp) rs766218121 0.00002
NM_182961.4(SYNE1):c.10624T>C (p.Cys3542Arg) rs751032216 0.00002
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys) rs371209532 0.00002
NM_182961.4(SYNE1):c.11086C>G (p.Gln3696Glu) rs377095831 0.00002
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser) rs757408388 0.00002
NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys) rs143519691 0.00002
NM_182961.4(SYNE1):c.11609A>G (p.Glu3870Gly) rs771572017 0.00002
NM_182961.4(SYNE1):c.11692C>A (p.Gln3898Lys) rs768435800 0.00002
NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg) rs771294384 0.00002
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn) rs148782440 0.00002
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp) rs745342797 0.00002
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val) rs560488372 0.00002
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn) rs201449723 0.00002
NM_182961.4(SYNE1):c.12704A>G (p.Asp4235Gly) rs964082904 0.00002
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253 0.00002
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys) rs777182389 0.00002
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg) rs763501028 0.00002
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr) rs368709678 0.00002
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly) rs777385898 0.00002
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile) rs374596074 0.00002
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser) rs368490158 0.00002
NM_182961.4(SYNE1):c.14458T>A (p.Ser4820Thr) rs999907923 0.00002
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg) rs577675508 0.00002
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602 0.00002
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His) rs754495941 0.00002
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr) rs762212036 0.00002
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr) rs202149617 0.00002
NM_182961.4(SYNE1):c.15053T>A (p.Leu5018Gln) rs772978925 0.00002
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn) rs780677467 0.00002
NM_182961.4(SYNE1):c.15408T>C (p.His5136=) rs776024178 0.00002
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile) rs770022371 0.00002
NM_182961.4(SYNE1):c.16288C>T (p.Leu5430Phe) rs377227289 0.00002
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His) rs370002959 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro) rs373436725 0.00002
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124 0.00002
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe) rs767705064 0.00002
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn) rs751747080 0.00002
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg) rs201146113 0.00002
NM_182961.4(SYNE1):c.17274C>A (p.His5758Gln) rs147858920 0.00002
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro) rs753335678 0.00002
NM_182961.4(SYNE1):c.17683-11T>C rs759219567 0.00002
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys) rs558631055 0.00002
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val) rs780920250 0.00002
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys) rs980349048 0.00002
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met) rs373188583 0.00002
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile) rs138258566 0.00002
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00002
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser) rs777882357 0.00002
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu) rs773315032 0.00002
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro) rs773155844 0.00002
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His) rs777618601 0.00002
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys) rs772396355 0.00002
NM_182961.4(SYNE1):c.21351+6A>G rs760934207 0.00002
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn) rs1488536575 0.00002
NM_182961.4(SYNE1):c.22162A>G (p.Thr7388Ala) rs1386701721 0.00002
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615 0.00002
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe) rs886061196 0.00002
NM_182961.4(SYNE1):c.22558C>T (p.Arg7520Cys) rs755621860 0.00002
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile) rs138581943 0.00002
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153 0.00002
NM_182961.4(SYNE1):c.22979G>A (p.Arg7660Gln) rs1461427417 0.00002
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu) rs780201995 0.00002
NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn) rs1435183530 0.00002
NM_182961.4(SYNE1):c.23314C>T (p.Arg7772Trp) rs373935459 0.00002
NM_182961.4(SYNE1):c.23590G>A (p.Asp7864Asn) rs760076679 0.00002
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr) rs886042801 0.00002
NM_182961.4(SYNE1):c.23737G>A (p.Val7913Ile) rs528535664 0.00002
NM_182961.4(SYNE1):c.2394+3G>A rs368012666 0.00002
NM_182961.4(SYNE1):c.2394+4C>T rs749262350 0.00002
NM_182961.4(SYNE1):c.23978+11A>T rs754355745 0.00002
NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr) rs750841362 0.00002
NM_182961.4(SYNE1):c.242G>A (p.Arg81His) rs761189574 0.00002
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427 0.00002
NM_182961.4(SYNE1):c.24496A>G (p.Ile8166Val) rs773060979 0.00002
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys) rs200752692 0.00002
NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala) rs754128595 0.00002
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His) rs376102438 0.00002
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn) rs751624606 0.00002
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp) rs201109440 0.00002
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val) rs776807564 0.00002
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr) rs927451522 0.00002
NM_182961.4(SYNE1):c.25119+3A>G rs1057521423 0.00002
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506 0.00002
NM_182961.4(SYNE1):c.2530G>A (p.Glu844Lys) rs770166877 0.00002
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr) rs770713708 0.00002
NM_182961.4(SYNE1):c.25460A>T (p.Glu8487Val) rs775455354 0.00002
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762 0.00002
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs) rs774317818 0.00002
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg) rs758464869 0.00002
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val) rs1310685451 0.00002
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) rs1007703591 0.00002
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr) rs769726483 0.00002
NM_182961.4(SYNE1):c.3736G>A (p.Glu1246Lys) rs138915528 0.00002
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=) rs762887399 0.00002
NM_182961.4(SYNE1):c.4487A>G (p.Lys1496Arg) rs146300279 0.00002
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn) rs774194598 0.00002
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514 0.00002
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377 0.00002
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln) rs749115727 0.00002
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro) rs779600835 0.00002
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met) rs372724272 0.00002
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly) rs144732736 0.00002
NM_182961.4(SYNE1):c.5872G>A (p.Glu1958Lys) rs1563856215 0.00002
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn) rs1449605743 0.00002
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser) rs200432574 0.00002
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln) rs201747340 0.00002
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly) rs368938119 0.00002
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser) rs28447480 0.00002
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu) rs765343767 0.00002
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly) rs370851746 0.00002
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His) rs755821648 0.00002
NM_182961.4(SYNE1):c.7174G>A (p.Val2392Met) rs146099481 0.00002
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr) rs763152677 0.00002
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys) rs370082646 0.00002
NM_182961.4(SYNE1):c.7340A>G (p.His2447Arg) rs527670014 0.00002
NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile) rs375687383 0.00002
NM_182961.4(SYNE1):c.7610G>A (p.Arg2537Lys) rs762448241 0.00002
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser) rs367840064 0.00002
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu) rs370644295 0.00002
NM_182961.4(SYNE1):c.8335A>G (p.Ile2779Val) rs746384150 0.00002
NM_182961.4(SYNE1):c.8392A>G (p.Arg2798Gly) rs886044262 0.00002
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly) rs545685387 0.00002
NM_182961.4(SYNE1):c.860A>G (p.Asn287Ser) rs781096163 0.00002
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu) rs576979843 0.00002
NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu) rs145819043 0.00002
NM_182961.4(SYNE1):c.9779A>G (p.Gln3260Arg) rs555197359 0.00002
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val) rs780460827 0.00002
NM_182961.4(SYNE1):c.9835G>A (p.Val3279Ile) rs762807112 0.00002
NM_182961.4(SYNE1):c.9847A>C (p.Asn3283His) rs745707616 0.00002
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) rs746689638 0.00002
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841 0.00002
NM_198994.3(TGM6):c.*97T>A rs1351166866 0.00002
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295 0.00001
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr) rs377639990 0.00001
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln) rs41293467 0.00001
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile) rs587782060 0.00001
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys) rs80358767 0.00001
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val) rs397507360 0.00001
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile) rs786203098 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365 0.00001
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289 0.00001
NM_000253.4(MTTP):c.-205G>A rs886058953 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_000370.3(TTPA):c.*1441C>G rs553317836 0.00001
NM_000370.3(TTPA):c.*292A>G rs886063067 0.00001
NM_000370.3(TTPA):c.*769G>A rs775461769 0.00001
NM_000370.3(TTPA):c.117C>T (p.Gly39=) rs750576019 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr) rs186021365 0.00001
NM_000370.3(TTPA):c.358+15A>G rs371592549 0.00001
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln) rs748038814 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00001
NM_000370.3(TTPA):c.663+10A>G rs374903020 0.00001
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe) rs756313678 0.00001
NM_000384.3(APOB):c.*207C>A rs886055566 0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105 0.00001
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573 0.00001
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572 0.00001
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.4216+4A>G rs886055588 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.509-6C>G rs778046473 0.00001
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1017+4C>T rs763008570 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) rs760471205 0.00001
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val) rs1201499588 0.00001
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr) rs1201958431 0.00001
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) rs748358246 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 0.00001
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg) rs765660985 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro) rs1480110004 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val) rs767162764 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr) rs370013480 0.00001
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg) rs143844199 0.00001
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys) rs374507635 0.00001
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432 0.00001
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) rs531504325 0.00001
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln) rs1298533109 0.00001
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro) rs1243753558 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val) rs1203579586 0.00001
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp) rs1045858420 0.00001
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile) rs375643077 0.00001
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr) rs757653354 0.00001
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys) rs760323157 0.00001
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) rs1943398664 0.00001
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) rs746666035 0.00001
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys) rs192494481 0.00001
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala) rs1271066819 0.00001
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg) rs1274003022 0.00001
NM_000784.4(CYP27A1):c.845-3C>T rs768674577 0.00001
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn) rs958713867 0.00001
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr) rs371056722 0.00001
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro) rs371133296 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_001001344.3(ATP2B3):c.1445G>A (p.Arg482His) rs1557010446 0.00001
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln) rs782067205 0.00001
NM_001009894.3(RLIG1):c.*611A>G rs2033206514 0.00001
NM_001044385.3(TMEM237):c.*1330C>T rs1016616892 0.00001
NM_001044385.3(TMEM237):c.*1378A>G rs886055443 0.00001
NM_001044385.3(TMEM237):c.*1561G>A rs563393191 0.00001
NM_001044385.3(TMEM237):c.*1603T>G rs886055442 0.00001
NM_001044385.3(TMEM237):c.*1835C>T rs1414626161 0.00001
NM_001044385.3(TMEM237):c.*1965G>A rs947203821 0.00001
NM_001044385.3(TMEM237):c.*2044T>C rs886055440 0.00001
NM_001044385.3(TMEM237):c.*2495C>G rs1459433205 0.00001
NM_001044385.3(TMEM237):c.*3997A>G rs1387630894 0.00001
NM_001044385.3(TMEM237):c.*3C>A rs749132259 0.00001
NM_001044385.3(TMEM237):c.-59G>A rs886055449 0.00001
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu) rs1559590115 0.00001
NM_001044385.3(TMEM237):c.1038-6T>G rs758523904 0.00001
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp) rs747158935 0.00001
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val) rs1437714395 0.00001
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys) rs373445814 0.00001
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=) rs747915597 0.00001
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp) rs779250127 0.00001
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) rs1186656902 0.00001
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val) rs759392151 0.00001
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val) rs772680401 0.00001
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser) rs750312169 0.00001
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala) rs184256195 0.00001
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu) rs771052304 0.00001
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys) rs762678333 0.00001
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=) rs754056989 0.00001
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His) rs186216206 0.00001
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro) rs373956551 0.00001
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr) rs773685442 0.00001
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg) rs749330370 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=) rs370681829 0.00001
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser) rs769694232 0.00001
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met) rs759814109 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.869+5T>C rs530769303 0.00001
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val) rs773512396 0.00001
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys) rs1209527419 0.00001
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln) rs745540263 0.00001
NM_001044385.3(TMEM237):c.943+5G>A rs779322966 0.00001
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His) rs576586379 0.00001
NM_001077418.2(TMEM231):c.-44C>A rs1419518232 0.00001
NM_001077418.3(TMEM231):c.-12C>G rs745498623 0.00001
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521 0.00001
NM_001077418.3(TMEM231):c.139+23G>A rs770598456 0.00001
NM_001077418.3(TMEM231):c.139+25C>T rs1474874368 0.00001
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg) rs766492182 0.00001
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377 0.00001
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val) rs1309156955 0.00001
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) rs759954710 0.00001
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg) rs1255071095 0.00001
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) rs1202833405 0.00001
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val) rs750935858 0.00001
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser) rs566395744 0.00001
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser) rs778407563 0.00001
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg) rs763194213 0.00001
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met) rs745485432 0.00001
NM_001077418.3(TMEM231):c.665-3C>T rs780063686 0.00001
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile) rs746055228 0.00001
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189 0.00001
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=) rs746685376 0.00001
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu) rs1230743826 0.00001
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val) rs768632156 0.00001
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln) rs746970206 0.00001
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=) rs1435643293 0.00001
NM_001080414.4(CCDC88C):c.1888G>A (p.Ala630Thr) rs773899627 0.00001
NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr) rs917595672 0.00001
NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys) rs751049970 0.00001
NM_001080453.3(INTS1):c.616G>C (p.Val206Leu) rs370240975 0.00001
NM_001080522.2(CC2D2A):c.*144A>C rs920755267 0.00001
NM_001114748.2(TMEM240):c.35T>C (p.Ile12Thr) rs1223225659 0.00001
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) rs201398669 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) rs781006387 0.00001
NM_001127222.2(CACNA1A):c.3149T>C (p.Ile1050Thr) rs2057414053 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) rs760772706 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) rs750048459 0.00001
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) rs766051225 0.00001
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser) rs768764350 0.00001
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) rs759143980 0.00001
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) rs1372902099 0.00001
NM_001134831.2(AHI1):c.*1327C>T rs371457794 0.00001
NM_001134831.2(AHI1):c.*1646T>C rs886061100 0.00001
NM_001134831.2(AHI1):c.*68C>T rs886061108 0.00001
NM_001134831.2(AHI1):c.*80C>T rs536580823 0.00001
NM_001134831.2(AHI1):c.-54G>T rs1162660693 0.00001
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser) rs1380121460 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.2765-9T>C rs374852342 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=) rs756637497 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser) rs746906096 0.00001
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) rs992608564 0.00001
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) rs1203128651 0.00001
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) rs766140596 0.00001
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_001173990.2(TMEM216):c.-242C>T rs756981776 0.00001
NM_001173990.3(TMEM216):c.*377T>C rs1260385076 0.00001
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 0.00001
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=) rs1175852840 0.00001
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989 0.00001
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) rs141119655 0.00001
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) rs781524899 0.00001
NM_001278064.2(GRM1):c.3236C>T (p.Pro1079Leu) rs145216301 0.00001
NM_001278064.2(GRM1):c.3405C>G (p.Ser1135Arg) rs1188689970 0.00001
NM_001278064.2(GRM1):c.951-6T>A rs758215901 0.00001
NM_001329943.3(KIAA0586):c.*10G>A rs1280881561 0.00001
NM_001329943.3(KIAA0586):c.*24del rs775748329 0.00001
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys) rs781781110 0.00001
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met) rs769423672 0.00001
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156 0.00001
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr) rs1406399353 0.00001
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp) rs932782936 0.00001
NM_001329943.3(KIAA0586):c.1253+4A>G rs1182604650 0.00001
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn) rs757196467 0.00001
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile) rs779792778 0.00001
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys) rs746704306 0.00001
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys) rs778123212 0.00001
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys) rs1445118511 0.00001
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His) rs753917457 0.00001
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys) rs1173352052 0.00001
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu) rs747120591 0.00001
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly) rs1020004939 0.00001
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu) rs1297075839 0.00001
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr) rs1039498791 0.00001
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys) rs1595193868 0.00001
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln) rs1047721846 0.00001
NM_001329943.3(KIAA0586):c.199+6T>A rs764690540 0.00001
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln) rs547990270 0.00001
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr) rs371583234 0.00001
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala) rs558410911 0.00001
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val) rs1200934389 0.00001
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly) rs373601253 0.00001
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu) rs1190897774 0.00001
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys) rs1267499182 0.00001
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg) rs773759282 0.00001
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn) rs922088604 0.00001
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser) rs955530356 0.00001
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg) rs377409718 0.00001
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser) rs377023593 0.00001
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu) rs1338718674 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp) rs1261333772 0.00001
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser) rs752882356 0.00001
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340 0.00001
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu) rs768032063 0.00001
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu) rs943207254 0.00001
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile) rs368808852 0.00001
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His) rs754818478 0.00001
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys) rs563109987 0.00001
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu) rs369859399 0.00001
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile) rs772489368 0.00001
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser) rs766060506 0.00001
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser) rs373431045 0.00001
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val) rs773159825 0.00001
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn) rs758962196 0.00001
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser) rs1413013409 0.00001
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly) rs751729993 0.00001
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser) rs755937342 0.00001
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn) rs199517530 0.00001
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu) rs1190269049 0.00001
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly) rs910865335 0.00001
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu) rs539304161 0.00001
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln) rs560315226 0.00001
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala) rs201889432 0.00001
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val) rs1223415414 0.00001
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala) rs1256817386 0.00001
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr) rs1256644781 0.00001
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg) rs1019828731 0.00001
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His) rs779179754 0.00001
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile) rs1441855459 0.00001
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu) rs966912655 0.00001
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser) rs912168236 0.00001
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile) rs775143643 0.00001
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val) rs1446993944 0.00001
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) rs1188851321 0.00001
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu) rs752429234 0.00001
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp) rs1015444951 0.00001
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn) rs754191741 0.00001
NM_001329943.3(KIAA0586):c.4496-3808A>C rs181384924 0.00001
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=) rs1476732636 0.00001
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=) rs371910625 0.00001
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) rs540188519 0.00001
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met) rs1260723288 0.00001
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro) rs758886732 0.00001
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg) rs375374719 0.00001
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His) rs779062959 0.00001
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu) rs780198735 0.00001
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg) rs772425621 0.00001
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala) rs1372486181 0.00001
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly) rs765495285 0.00001
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile) rs751564059 0.00001
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg) rs1297972335 0.00001
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu) rs372305836 0.00001
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys) rs1384400002 0.00001
NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp) rs776275848 0.00001
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg) rs1412562086 0.00001
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377 0.00001
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=) rs1024563256 0.00001
NM_001376.5(DYNC1H1):c.2719-15T>C rs748772899 0.00001
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) rs527943422 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 0.00001
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) rs773425996 0.00001
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182 0.00001
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=) rs2048183675 0.00001
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=) rs1184080545 0.00001
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995 0.00001
NM_001378452.1(ITPR1):c.*1061T>G rs886058652 0.00001
NM_001378452.1(ITPR1):c.*740T>C rs886058650 0.00001
NM_001378452.1(ITPR1):c.*816C>T rs775011992 0.00001
NM_001378452.1(ITPR1):c.-158C>G rs886058523 0.00001
NM_001378452.1(ITPR1):c.-342C>T rs886058522 0.00001
NM_001378452.1(ITPR1):c.-63C>T rs889404498 0.00001
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=) rs760762106 0.00001
NM_001378452.1(ITPR1):c.2006+13C>A rs1181863539 0.00001
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=) rs779948053 0.00001
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=) rs764301997 0.00001
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) rs370220353 0.00001
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.3162-9C>T rs1159582623 0.00001
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser) rs776099053 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.3327+10G>T rs757492529 0.00001
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=) rs764767201 0.00001
NM_001378452.1(ITPR1):c.3564+9C>T rs564799796 0.00001
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=) rs540908870 0.00001
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=) rs886058578 0.00001
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=) rs2094755597 0.00001
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=) rs1396361560 0.00001
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg) rs886058619 0.00001
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=) rs754434409 0.00001
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=) rs886058580 0.00001
NM_001378615.1(CC2D2A):c.*94T>C rs1296848672 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 0.00001
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142 0.00001
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu) rs759126033 0.00001
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His) rs886059139 0.00001
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu) rs533830027 0.00001
NM_001378615.1(CC2D2A):c.2487-6T>C rs767335431 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181 0.00001
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val) rs763775613 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg) rs1392733763 0.00001
NM_001378615.1(CC2D2A):c.4675-12T>G rs769761582 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu) rs201986486 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His) rs760274429 0.00001
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp) rs1172444288 0.00001
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) rs773858454 0.00001
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val) rs1245864814 0.00001
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg) rs1571626155 0.00001
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly) rs1216457569 0.00001
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys) rs760468985 0.00001
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile) rs969494348 0.00001
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys) rs778141653 0.00001
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His) rs761867267 0.00001
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val) rs948125814 0.00001
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His) rs758318696 0.00001
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala) rs752495973 0.00001
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser) rs1417756814 0.00001
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) rs372362132 0.00001
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser) rs766562520 0.00001
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) rs766584545 0.00001
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser) rs760097003 0.00001
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr) rs373756710 0.00001
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp) rs1307934269 0.00001
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val) rs760460512 0.00001
NM_001382391.1(CSPP1):c.-102G>A rs1805078439 0.00001
NM_001382391.1(CSPP1):c.-116C>T rs371071297 0.00001
NM_001382391.1(CSPP1):c.-140C>G rs770993498 0.00001
NM_001382391.1(CSPP1):c.-146T>A rs749476046 0.00001
NM_001382391.1(CSPP1):c.-75C>T rs918221746 0.00001
NM_001382391.1(CSPP1):c.100-3C>T rs919525492 0.00001
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser) rs1395802185 0.00001
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr) rs1445583372 0.00001
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn) rs1037020711 0.00001
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile) rs1231591915 0.00001
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr) rs1460794902 0.00001
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr) rs974893054 0.00001
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg) rs1438276592 0.00001
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val) rs755596091 0.00001
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala) rs1818321960 0.00001
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln) rs778430027 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu) rs375900507 0.00001
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp) rs768395830 0.00001
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys) rs1818416279 0.00001
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) rs754153035 0.00001
NM_001382391.1(CSPP1):c.1827+3A>G rs1449112719 0.00001
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp) rs527674289 0.00001
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln) rs1822579573 0.00001
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys) rs760288983 0.00001
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg) rs1452211221 0.00001
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly) rs1212455505 0.00001
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg) rs1822600510 0.00001
NM_001382391.1(CSPP1):c.199+13A>G rs756283251 0.00001
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys) rs1420249213 0.00001
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr) rs968055651 0.00001
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg) rs769707621 0.00001
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser) rs751023936 0.00001
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala) rs780885390 0.00001
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) rs577752590 0.00001
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln) rs201974031 0.00001
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser) rs1826216893 0.00001
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His) rs769971911 0.00001
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met) rs760013419 0.00001
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr) rs1421808533 0.00001
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys) rs1251717089 0.00001
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys) rs765955382 0.00001
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr) rs769473253 0.00001
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu) rs1332974255 0.00001
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr) rs894040195 0.00001
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile) rs1828816022 0.00001
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys) rs746260241 0.00001
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro) rs764280843 0.00001
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly) rs772949501 0.00001
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys) rs373151997 0.00001
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln) rs377493480 0.00001
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val) rs370720351 0.00001
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn) rs1381482450 0.00001
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly) rs1282726257 0.00001
NM_001382391.1(CSPP1):c.2829-3T>C rs1830657246 0.00001
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) rs1162661826 0.00001
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser) rs745710780 0.00001
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn) rs766939685 0.00001
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) rs1384362094 0.00001
NM_001382391.1(CSPP1):c.303+3A>T rs920556156 0.00001
NM_001382391.1(CSPP1):c.3109+5G>C rs772586492 0.00001
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) rs370238037 0.00001
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) rs766496985 0.00001
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 0.00001
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) rs1368965128 0.00001
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) rs778723931 0.00001
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) rs758825560 0.00001
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala) rs778293599 0.00001
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) rs537833447 0.00001
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) rs1017040124 0.00001
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) rs1158377033 0.00001
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) rs766061975 0.00001
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) rs1170601676 0.00001
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) rs752140903 0.00001
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) rs748165041 0.00001
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) rs1241589485 0.00001
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) rs936435444 0.00001
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) rs377160929 0.00001
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser) rs1395114211 0.00001
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln) rs772650396 0.00001
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His) rs762548335 0.00001
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys) rs747784602 0.00001
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro) rs1339065259 0.00001
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu) rs752084244 0.00001
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp) rs748917623 0.00001
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys) rs1369528194 0.00001
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala) rs764343140 0.00001
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg) rs374738280 0.00001
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln) rs1173092063 0.00001
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu) rs754454865 0.00001
NM_001386140.1(MTTP):c.*1018G>A rs1036088923 0.00001
NM_001386140.1(MTTP):c.*184G>A rs146172944 0.00001
NM_001386140.1(MTTP):c.*490_*494del rs886058963 0.00001
NM_001386140.1(MTTP):c.*668A>G rs1021704277 0.00001
NM_001386140.1(MTTP):c.-20G>A rs752823787 0.00001
NM_001386140.1(MTTP):c.-28T>C rs886058956 0.00001
NM_001386140.1(MTTP):c.-54C>T rs181769817 0.00001
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser) rs138544271 0.00001
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr) rs765712127 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser) rs758939873 0.00001
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu) rs780688378 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu) rs1159084242 0.00001
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg) rs1309109456 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys) rs149228079 0.00001
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His) rs752590883 0.00001
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile) rs572336571 0.00001
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn) rs1459889971 0.00001
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg) rs774949603 0.00001
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr) rs1283368181 0.00001
NM_001386140.1(MTTP):c.393+5A>G rs771577895 0.00001
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val) rs1252692732 0.00001
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg) rs746001155 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 0.00001
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) rs750749323 0.00001
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp) rs1428463955 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_001395333.1(MTCL1):c.1777C>T (p.Arg593Cys) rs758581749 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_001447.3(FAT2):c.11978C>T (p.Ala3993Val) rs748005307 0.00001
NM_001961.4(EEF2):c.2241G>A (p.Val747=) rs772173797 0.00001
NM_002222.6(ITPR1):c.*1481delG rs886058656 0.00001
NM_002739.5(PRKCG):c.*360G>C rs886054614 0.00001
NM_002739.5(PRKCG):c.*415G>C rs2068821858 0.00001
NM_002739.5(PRKCG):c.-169G>C rs777064041 0.00001
NM_002739.5(PRKCG):c.1282-14G>A rs1017029385 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) rs980400591 0.00001
NM_002739.5(PRKCG):c.1906-10T>C rs575700585 0.00001
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) rs753906154 0.00001
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) rs751824637 0.00001
NM_002739.5(PRKCG):c.520C>G (p.His174Asp) rs777612378 0.00001
NM_002739.5(PRKCG):c.637C>A (p.Arg213=) rs750289253 0.00001
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys) rs771732555 0.00001
NM_003194.5(TBP):c.410C>T (p.Pro137Leu) rs142540266 0.00001
NM_003383.5(VLDLR):c.*267A>G rs1036108012 0.00001
NM_003383.5(VLDLR):c.*51C>T rs752035004 0.00001
NM_003383.5(VLDLR):c.-48G>C rs1054805961 0.00001
NM_003383.5(VLDLR):c.1066+14T>C rs762128149 0.00001
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) rs137946976 0.00001
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr) rs369197633 0.00001
NM_003383.5(VLDLR):c.2104+6G>A rs773398189 0.00001
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys) rs1818277717 0.00001
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala) rs753848585 0.00001
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn) rs144469558 0.00001
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr) rs773228197 0.00001
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg) rs762636526 0.00001
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949 0.00001
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288 0.00001
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) rs370772658 0.00001
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) rs374558203 0.00001
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) rs1034776233 0.00001
NM_003640.5(ELP1):c.2295A>T (p.Gly765=) rs137874743 0.00001
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264 0.00001
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn) rs770590151 0.00001
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635 0.00001
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807 0.00001
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His) rs1435854424 0.00001
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys) rs763981711 0.00001
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr) rs770540843 0.00001
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg) rs201781695 0.00001
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His) rs200524123 0.00001
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp) rs773117166 0.00001
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000 0.00001
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) rs768246990 0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met) rs748846701 0.00001
NM_004115.4(FGF14):c.*1071C>T rs886049933 0.00001
NM_004115.4(FGF14):c.*1072G>A rs886049932 0.00001
NM_004115.4(FGF14):c.*361C>T rs1159330973 0.00001
NM_004115.4(FGF14):c.620G>A (p.Arg207Gln) rs760595879 0.00001
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu) rs757752994 0.00001
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg) rs1305901422 0.00001
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_005861.4(STUB1):c.518G>T (p.Arg173Leu) rs755346712 0.00001
NM_006392.4(NOP56):c.452G>C (p.Ser151Thr) rs1360494485 0.00001
NM_006796.3(AFG3L2):c.*585A>C rs886053611 0.00001
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His) rs1263405472 0.00001
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp) rs886053614 0.00001
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=) rs1308467906 0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) rs915684170 0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=) rs770555771 0.00001
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val) rs773989387 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=) rs758091474 0.00001
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His) rs769417045 0.00001
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=) rs768932281 0.00001
NM_006946.4(SPTBN2):c.3867+3G>T rs753473374 0.00001
NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=) rs886048550 0.00001
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys) rs368125962 0.00001
NM_006946.4(SPTBN2):c.4986-5T>G rs1371679359 0.00001
NM_006946.4(SPTBN2):c.5248C>A (p.Arg1750Ser) rs886048548 0.00001
NM_006946.4(SPTBN2):c.54G>A (p.Gln18=) rs377573278 0.00001
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr) rs752677090 0.00001
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=) rs749188722 0.00001
NM_006946.4(SPTBN2):c.6169G>T (p.Ala2057Ser) rs1940323398 0.00001
NM_006946.4(SPTBN2):c.6374+15G>A rs777633339 0.00001
NM_006946.4(SPTBN2):c.6502-9C>T rs545190212 0.00001
NM_006946.4(SPTBN2):c.657-7C>G rs758925003 0.00001
NM_006946.4(SPTBN2):c.6723-11G>A rs758435668 0.00001
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg) rs201670045 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.6897-4A>G rs1262014282 0.00001
NM_006946.4(SPTBN2):c.773-5T>C rs1941832250 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007289.4(MME):c.1706A>C (p.Gln569Pro) rs1326179984 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537 0.00001
NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly) rs1296770412 0.00001
NM_014053.4(FLVCR1):c.*123T>C rs1355815695 0.00001
NM_014053.4(FLVCR1):c.*1738G>A rs541110364 0.00001
NM_014053.4(FLVCR1):c.*2188C>T rs552491316 0.00001
NM_014053.4(FLVCR1):c.*2954T>C rs930665650 0.00001
NM_014053.4(FLVCR1):c.*3228T>C rs886045943 0.00001
NM_014053.4(FLVCR1):c.*344T>C rs886045930 0.00001
NM_014053.4(FLVCR1):c.*665C>T rs1226910181 0.00001
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile) rs754655924 0.00001
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) rs1391075754 0.00001
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) rs74607124 0.00001
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=) rs1251133617 0.00001
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly) rs781057835 0.00001
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser) rs746296931 0.00001
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=) rs886045928 0.00001
NM_014363.6(SACS):c.*307A>G rs576860445 0.00001
NM_014363.6(SACS):c.*461G>A rs1003496096 0.00001
NM_014363.6(SACS):c.*711A>G rs368233436 0.00001
NM_014363.6(SACS):c.-470C>T rs748973703 0.00001
NM_014363.6(SACS):c.-489G>A rs886050091 0.00001
NM_014363.6(SACS):c.-70G>A rs575970347 0.00001
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148 0.00001
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr) rs1388546547 0.00001
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle) rs1555250190 0.00001
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078 0.00001
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val) rs372494676 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) rs748237614 0.00001
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile) rs1883567634 0.00001
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) rs759433888 0.00001
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075 0.00001
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly) rs766487632 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442 0.00001
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys) rs778310483 0.00001
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) rs764098635 0.00001
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys) rs1490155590 0.00001
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) rs767622491 0.00001
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) rs746194271 0.00001
NM_014363.6(SACS):c.12816C>T (p.Gly4272=) rs142643824 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13281T>A (p.Thr4427=) rs1360709632 0.00001
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.13476G>C (p.Val4492=) rs370362235 0.00001
NM_014363.6(SACS):c.13506A>G (p.Pro4502=) rs1593119067 0.00001
NM_014363.6(SACS):c.13509T>G (p.Thr4503=) rs745361567 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) rs376186273 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929 0.00001
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) rs767844042 0.00001
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744 0.00001
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn) rs571646732 0.00001
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser) rs142037771 0.00001
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) rs377493083 0.00001
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile) rs771915442 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys) rs756303420 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.475T>C (p.Tyr159His) rs1305721973 0.00001
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu) rs1330036755 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.482A>G (p.Asn161Ser) rs746069731 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4846A>C (p.Asn1616His) rs979327782 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu) rs1035497308 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) rs776656956 0.00001
NM_014363.6(SACS):c.5064G>A (p.Gln1688=) rs760628805 0.00001
NM_014363.6(SACS):c.561C>T (p.Val187=) rs758653462 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) rs758101602 0.00001
NM_014363.6(SACS):c.598A>G (p.Ile200Val) rs762268076 0.00001
NM_014363.6(SACS):c.6096G>A (p.Ser2032=) rs756027210 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933 0.00001
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134 0.00001
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972 0.00001
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960 0.00001
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313 0.00001
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) rs567650774 0.00001
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr) rs767864000 0.00001
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser) rs1288769278 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser) rs1191066514 0.00001
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096 0.00001
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys) rs772072343 0.00001
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys) rs745462710 0.00001
NM_014363.6(SACS):c.8281G>A (p.Val2761Met) rs372119773 0.00001
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639 0.00001
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181 0.00001
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353 0.00001
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783 0.00001
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599 0.00001
NM_014363.6(SACS):c.8900G>A (p.Arg2967His) rs777753707 0.00001
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp) rs755698899 0.00001
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00001
NM_014363.6(SACS):c.9492A>C (p.Gln3164His) rs1025915131 0.00001
NM_014363.6(SACS):c.9661G>A (p.Val3221Met) rs142867964 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) rs772595501 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_015046.7(SETX):c.*13A>T rs1204954131 0.00001
NM_015046.7(SETX):c.*1420A>T rs751833631 0.00001
NM_015046.7(SETX):c.*1722A>G rs963398615 0.00001
NM_015046.7(SETX):c.*2287T>C rs1842428001 0.00001
NM_015046.7(SETX):c.*869C>T rs1354270999 0.00001
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala) rs999767103 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) rs377301250 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.167T>C (p.Phe56Ser) rs1032816797 0.00001
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala) rs957434595 0.00001
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu) rs1015257691 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) rs761943404 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn) rs1846998334 0.00001
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) rs752140967 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) rs773999398 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg) rs778111855 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr) rs772466321 0.00001
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082 0.00001
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu) rs1362908917 0.00001
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) rs1466879487 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5431G>A (p.Val1811Met) rs947336270 0.00001
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile) rs763771426 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5661A>G (p.Gln1887=) rs1589671916 0.00001
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) rs765849036 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.598A>G (p.Ile200Val) rs1368588434 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889 0.00001
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp) rs1843269972 0.00001
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu) rs781671592 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) rs912160285 0.00001
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr) rs1842557730 0.00001
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) rs146862359 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.823G>A (p.Glu275Lys) rs901741485 0.00001
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) rs775579797 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.980A>T (p.Glu327Val) rs1315992594 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met) rs192764146 0.00001
NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr) rs2095986041 0.00001
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg) rs965685976 0.00001
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys) rs774307423 0.00001
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys) rs758739555 0.00001
NM_015272.5(RPGRIP1L):c.*107G>A rs770837632 0.00001
NM_015272.5(RPGRIP1L):c.*1597G>A rs1963334195 0.00001
NM_015272.5(RPGRIP1L):c.*1869A>G rs1224541215 0.00001
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818 0.00001
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840 0.00001
NM_015272.5(RPGRIP1L):c.*53G>A rs1963400312 0.00001
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe) rs747867189 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn) rs949199630 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu) rs775017742 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys) rs1196015536 0.00001
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg) rs1966513057 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys) rs768030202 0.00001
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His) rs1480250597 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile) rs905516252 0.00001
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys) rs1963624413 0.00001
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr) rs764832127 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His) rs1970020650 0.00001
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln) rs916661298 0.00001
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp) rs775767366 0.00001
NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His) rs180883554 0.00001
NM_015378.4(VPS13D):c.9196C>A (p.Leu3066Met) rs201819449 0.00001
NM_015378.4(VPS13D):c.9304C>G (p.Pro3102Ala) rs1465369949 0.00001
NM_016169.4(SUFU):c.*1145A>G rs1190732664 0.00001
NM_016169.4(SUFU):c.*2278C>G rs530131484 0.00001
NM_016169.4(SUFU):c.*2475C>T rs886046661 0.00001
NM_016169.4(SUFU):c.*3045A>G rs185874880 0.00001
NM_016169.4(SUFU):c.*305C>A rs1430494184 0.00001
NM_016169.4(SUFU):c.*405G>A rs2063829258 0.00001
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe) rs757401093 0.00001
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln) rs369910221 0.00001
NM_016169.4(SUFU):c.1022+6T>C rs1216584462 0.00001
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu) rs587778699 0.00001
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys) rs751728820 0.00001
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln) rs1590082116 0.00001
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln) rs1447671524 0.00001
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr) rs1464341550 0.00001
NM_016169.4(SUFU):c.1073A>G (p.His358Arg) rs1432365875 0.00001
NM_016169.4(SUFU):c.107C>T (p.Ala36Val) rs566714720 0.00001
NM_016169.4(SUFU):c.1085G>A (p.Arg362His) rs755390277 0.00001
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met) rs1554854578 0.00001
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln) rs749802616 0.00001
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser) rs375419295 0.00001
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys) rs767814106 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758 0.00001
NM_016169.4(SUFU):c.124C>T (p.Arg42Cys) rs2062292519 0.00001
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys) rs766370528 0.00001
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn) rs1311816626 0.00001
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile) rs773805575 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn) rs147404195 0.00001
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp) rs948353979 0.00001
NM_016169.4(SUFU):c.1429G>A (p.Val477Met) rs1060501117 0.00001
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu) rs1479128337 0.00001
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser) rs200061483 0.00001
NM_016169.4(SUFU):c.178T>C (p.Tyr60His) rs2062294197 0.00001
NM_016169.4(SUFU):c.180C>T (p.Tyr60=) rs776945270 0.00001
NM_016169.4(SUFU):c.183-13T>G rs749913059 0.00001
NM_016169.4(SUFU):c.217A>C (p.Met73Leu) rs1183694060 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp) rs775491374 0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys) rs1464640869 0.00001
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp) rs1564657066 0.00001
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys) rs1040654062 0.00001
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp) rs1188593672 0.00001
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala) rs1425171528 0.00001
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg) rs1171604398 0.00001
NM_016169.4(SUFU):c.368G>A (p.Arg123His) rs745958724 0.00001
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser) rs768935165 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 0.00001
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln) rs764847917 0.00001
NM_016169.4(SUFU):c.529A>G (p.Met177Val) rs758672583 0.00001
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg) rs1489443369 0.00001
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser) rs1207697890 0.00001
NM_016169.4(SUFU):c.562G>A (p.Val188Met) rs1462013962 0.00001
NM_016169.4(SUFU):c.5C>T (p.Ala2Val) rs1589969719 0.00001
NM_016169.4(SUFU):c.601G>A (p.Val201Ile) rs147695965 0.00001
NM_016169.4(SUFU):c.602T>C (p.Val201Ala) rs772840788 0.00001
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu) rs907135467 0.00001
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser) rs1178631893 0.00001
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro) rs1564654422 0.00001
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly) rs761240106 0.00001
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu) rs2062290972 0.00001
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser) rs1457485957 0.00001
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn) rs544734275 0.00001
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn) rs1283509771 0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln) rs1235137905 0.00001
NM_016169.4(SUFU):c.756+10G>C rs764838079 0.00001
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys) rs775245784 0.00001
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser) rs762258680 0.00001
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly) rs772598822 0.00001
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp) rs761003435 0.00001
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu) rs752387760 0.00001
NM_016169.4(SUFU):c.845C>A (p.Pro282His) rs2063472026 0.00001
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly) rs763598499 0.00001
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys) rs564728455 0.00001
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr) rs587778698 0.00001
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser) rs1164574977 0.00001
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg) rs141737156 0.00001
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys) rs535845342 0.00001
NM_016169.4(SUFU):c.967G>A (p.Val323Ile) rs1420089970 0.00001
NM_016169.4(SUFU):c.979A>G (p.Ile327Val) rs752846043 0.00001
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala) rs1391787041 0.00001
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu) rs747125633 0.00001
NM_016373.4(WWOX):c.1010T>C (p.Val337Ala) rs1170717426 0.00001
NM_016373.4(WWOX):c.1038G>T (p.Arg346Ser) rs781040616 0.00001
NM_016373.4(WWOX):c.1042T>G (p.Phe348Val) rs768904294 0.00001
NM_016373.4(WWOX):c.1054A>G (p.Met352Val) rs575317950 0.00001
NM_016373.4(WWOX):c.107+6G>A rs1276657647 0.00001
NM_016373.4(WWOX):c.108-3C>T rs1163967827 0.00001
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr) rs778218106 0.00001
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly) rs2051755192 0.00001
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser) rs770628801 0.00001
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile) rs775460117 0.00001
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr) rs758746365 0.00001
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser) rs544760115 0.00001
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly) rs1316600993 0.00001
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr) rs375970162 0.00001
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly) rs2051763292 0.00001
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp) rs923748427 0.00001
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter) rs1197462916 0.00001
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro) rs368397011 0.00001
NM_016373.4(WWOX):c.177G>C (p.Leu59Phe) rs771850922 0.00001
NM_016373.4(WWOX):c.184G>A (p.Gly62Arg) rs775696083 0.00001
NM_016373.4(WWOX):c.193C>A (p.Gln65Lys) rs558101281 0.00001
NM_016373.4(WWOX):c.211G>A (p.Gly71Arg) rs767880120 0.00001
NM_016373.4(WWOX):c.286G>A (p.Asp96Asn) rs1461547362 0.00001
NM_016373.4(WWOX):c.287A>G (p.Asp96Gly) rs776969977 0.00001
NM_016373.4(WWOX):c.28G>C (p.Asp10His) rs781180473 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.379G>A (p.Val127Ile) rs1183597678 0.00001
NM_016373.4(WWOX):c.385G>C (p.Val129Leu) rs781732002 0.00001
NM_016373.4(WWOX):c.409+5G>A rs1305123836 0.00001
NM_016373.4(WWOX):c.409+6C>G rs780224603 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_016373.4(WWOX):c.516+3A>G rs200058019 0.00001
NM_016373.4(WWOX):c.518A>G (p.His173Arg) rs770595933 0.00001
NM_016373.4(WWOX):c.51G>T (p.Glu17Asp) rs991773402 0.00001
NM_016373.4(WWOX):c.553G>A (p.Ala185Thr) rs778951309 0.00001
NM_016373.4(WWOX):c.566G>A (p.Ser189Asn) rs776354746 0.00001
NM_016373.4(WWOX):c.586G>A (p.Ala196Thr) rs370367979 0.00001
NM_016373.4(WWOX):c.599A>G (p.Lys200Arg) rs1011606866 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.606-16A>G rs139257288 0.00001
NM_016373.4(WWOX):c.631G>A (p.Ala211Thr) rs370737224 0.00001
NM_016373.4(WWOX):c.647T>C (p.Leu216Pro) rs1385370021 0.00001
NM_016373.4(WWOX):c.656G>A (p.Ser219Asn) rs367599412 0.00001
NM_016373.4(WWOX):c.666A>C (p.Lys222Asn) rs982171635 0.00001
NM_016373.4(WWOX):c.667G>A (p.Asp223Asn) rs768734917 0.00001
NM_016373.4(WWOX):c.670G>A (p.Gly224Ser) rs1349025177 0.00001
NM_016373.4(WWOX):c.691G>C (p.Val231Leu) rs755974419 0.00001
NM_016373.4(WWOX):c.698A>T (p.His233Leu) rs1266205670 0.00001
NM_016373.4(WWOX):c.704G>T (p.Gly235Val) rs1169887175 0.00001
NM_016373.4(WWOX):c.708C>G (p.His236Gln) rs745681407 0.00001
NM_016373.4(WWOX):c.715C>G (p.Leu239Val) rs575080327 0.00001
NM_016373.4(WWOX):c.737T>C (p.Val246Ala) rs200966505 0.00001
NM_016373.4(WWOX):c.763G>A (p.Val255Ile) rs765590833 0.00001
NM_016373.4(WWOX):c.766A>G (p.Ile256Val) rs1023419687 0.00001
NM_016373.4(WWOX):c.812C>T (p.Ser271Phe) rs758222414 0.00001
NM_016373.4(WWOX):c.818G>A (p.Gly273Glu) rs756228469 0.00001
NM_016373.4(WWOX):c.828C>G (p.Asp276Glu) rs372225190 0.00001
NM_016373.4(WWOX):c.82A>C (p.Lys28Gln) rs771726317 0.00001
NM_016373.4(WWOX):c.848C>A (p.Thr283Lys) rs1186552961 0.00001
NM_016373.4(WWOX):c.860A>G (p.Tyr287Cys) rs369890118 0.00001
NM_016373.4(WWOX):c.870G>A (p.Met290Ile) rs199809390 0.00001
NM_016373.4(WWOX):c.880A>G (p.Asn294Asp) rs775585652 0.00001
NM_016373.4(WWOX):c.887C>G (p.Ser296Cys) rs1385421754 0.00001
NM_016373.4(WWOX):c.914A>G (p.Asn305Ser) rs1224888299 0.00001
NM_016373.4(WWOX):c.916G>A (p.Glu306Lys) rs1326472012 0.00001
NM_016373.4(WWOX):c.937C>G (p.Pro313Ala) rs370345936 0.00001
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys) rs781683643 0.00001
NM_016373.4(WWOX):c.947T>C (p.Val316Ala) rs1476364680 0.00001
NM_016373.4(WWOX):c.971G>A (p.Gly324Glu) rs766163069 0.00001
NM_016373.4(WWOX):c.980T>C (p.Met327Thr) rs1567570484 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016464.5(TMEM138):c.-17G>A rs757369483 0.00001
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp) rs766349558 0.00001
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr) rs767361822 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser) rs934639615 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) rs775913576 0.00001
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) rs1398724919 0.00001
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) rs1171835963 0.00001
NM_016614.3(TDP2):c.97G>T (p.Ala33Ser) rs760554150 0.00001
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala) rs745809472 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile) rs760184188 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017791.3(FLVCR2):c.*893T>C rs1890444124 0.00001
NM_017791.3(FLVCR2):c.*952T>G rs747845375 0.00001
NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs) rs779784201 0.00001
NM_017791.3(FLVCR2):c.1474C>T (p.Arg492Trp) rs139495418 0.00001
NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg) rs767398242 0.00001
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle) rs746459536 0.00001
NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr) rs886050786 0.00001
NM_017791.3(FLVCR2):c.69G>A (p.Ala23=) rs1888525051 0.00001
NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg) rs768707435 0.00001
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg) rs267606823 0.00001
NM_017791.3(FLVCR2):c.947C>G (p.Thr316Ser) rs779117746 0.00001
NM_018075.5(ANO10):c.*237G>C rs904271838 0.00001
NM_018075.5(ANO10):c.-102C>A rs886058484 0.00001
NM_018075.5(ANO10):c.1493A>G (p.Tyr498Cys) rs145543748 0.00001
NM_018075.5(ANO10):c.1628G>A (p.Arg543His) rs372086237 0.00001
NM_018075.5(ANO10):c.1923G>A (p.Lys641=) rs1260794121 0.00001
NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys) rs886058480 0.00001
NM_018075.5(ANO10):c.676G>A (p.Ala226Thr) rs188443010 0.00001
NM_018075.5(ANO10):c.802A>G (p.Met268Val) rs372215383 0.00001
NM_018075.5(ANO10):c.853C>T (p.Arg285Trp) rs767044966 0.00001
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu) rs1176487325 0.00001
NM_018319.3(TDP1):c.-278C>T rs886050880 0.00001
NM_018319.4(TDP1):c.*1239T>C rs1387359215 0.00001
NM_018319.4(TDP1):c.*1367A>G rs1462755052 0.00001
NM_018319.4(TDP1):c.*774G>A rs372910082 0.00001
NM_018319.4(TDP1):c.-38G>A rs1037056557 0.00001
NM_018319.4(TDP1):c.643T>C (p.Tyr215His) rs754702237 0.00001
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu) rs1428279795 0.00001
NM_018319.4(TDP1):c.84A>G (p.Pro28=) rs1596498067 0.00001
NM_018319.4(TDP1):c.896del (p.Ser299fs) rs773960264 0.00001
NM_018718.3(CEP41):c.*1205G>T rs1554415397 0.00001
NM_018718.3(CEP41):c.*1766T>C rs1211217706 0.00001
NM_018718.3(CEP41):c.*2159C>T rs886061995 0.00001
NM_018718.3(CEP41):c.*2709G>A rs1342689782 0.00001
NM_018718.3(CEP41):c.*4505G>T rs1554413676 0.00001
NM_018718.3(CEP41):c.*4994T>C rs527933839 0.00001
NM_018718.3(CEP41):c.*55G>A rs782471506 0.00001
NM_018718.3(CEP41):c.*832A>C rs1554415585 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln) rs782089459 0.00001
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser) rs782590600 0.00001
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val) rs781832103 0.00001
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro) rs587780311 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_018718.3(CEP41):c.145+3A>G rs782008140 0.00001
NM_018718.3(CEP41):c.145+5G>A rs1413177096 0.00001
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu) rs1554419921 0.00001
NM_018718.3(CEP41):c.164A>T (p.Asp55Val) rs782776244 0.00001
NM_018718.3(CEP41):c.200C>T (p.Ala67Val) rs782426353 0.00001
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly) rs1554417870 0.00001
NM_018718.3(CEP41):c.308C>T (p.Ala103Val) rs369687508 0.00001
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621 0.00001
NM_018718.3(CEP41):c.565A>G (p.Ile189Val) rs782591147 0.00001
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys) rs782466306 0.00001
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys) rs1554416667 0.00001
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu) rs782815662 0.00001
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp) rs782729874 0.00001
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys) rs782435349 0.00001
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu) rs782474335 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg) rs1207224249 0.00001
NM_018896.5(CACNA1G):c.2979+1G>T rs1270287011 0.00001
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) rs1444290546 0.00001
NM_020247.5(COQ8A):c.*150C>T rs755137919 0.00001
NM_020247.5(COQ8A):c.*184G>C rs548257684 0.00001
NM_020247.5(COQ8A):c.*22C>T rs374941896 0.00001
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala) rs750053661 0.00001
NM_020247.5(COQ8A):c.1533G>A (p.Thr511=) rs201337210 0.00001
NM_020247.5(COQ8A):c.1659+14C>T rs1444332878 0.00001
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=) rs7545723 0.00001
NM_020247.5(COQ8A):c.297C>T (p.Pro99=) rs543084403 0.00001
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln) rs751042244 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala) rs760349295 0.00001
NM_020366.4(RPGRIP1):c.3238+3A>G rs1389509266 0.00001
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys) rs761391551 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp) rs727504153 0.00001
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly) rs879437180 0.00001
NM_022464.5(SIL1):c.648G>C (p.Met216Ile) rs538181924 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_024411.5(PDYN):c.*1336G>C rs1402086088 0.00001
NM_024411.5(PDYN):c.*1532C>T rs886056528 0.00001
NM_024411.5(PDYN):c.*671T>C rs1290356604 0.00001
NM_024411.5(PDYN):c.*872C>A rs933617446 0.00001
NM_024411.5(PDYN):c.257C>T (p.Ser86Leu) rs781363760 0.00001
NM_024411.5(PDYN):c.501C>T (p.Asp167=) rs886056535 0.00001
NM_024411.5(PDYN):c.571G>T (p.Gly191Trp) rs767807436 0.00001
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val) rs2036709987 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_033064.5(ATCAY):c.*1181G>A rs530991790 0.00001
NM_033064.5(ATCAY):c.*2356C>T rs886054425 0.00001
NM_033064.5(ATCAY):c.*3124C>T rs2039079791 0.00001
NM_033064.5(ATCAY):c.*612C>T rs2039056211 0.00001
NM_033064.5(ATCAY):c.-176C>T rs911941440 0.00001
NM_033064.5(ATCAY):c.-41-13G>A rs529428286 0.00001
NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser) rs756401076 0.00001
NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr) rs756591751 0.00001
NM_033064.5(ATCAY):c.402C>T (p.Ser134=) rs564040857 0.00001
NM_144992.5(VWA3B):c.2243A>G (p.Asn748Ser) rs1037456370 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152617.4(RNF168):c.237A>G (p.Ile79Met) rs148808853 0.00001
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs) rs1584279870 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_152703.5(SAMD9L):c.748G>T (p.Val250Phe) rs1451330701 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) rs777542453 0.00001
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) rs758491411 0.00001
NM_173500.4(TTBK2):c.*1243C>T rs1182692526 0.00001
NM_173500.4(TTBK2):c.-184G>C rs1439973590 0.00001
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys) rs759246710 0.00001
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys) rs758352842 0.00001
NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro) rs756629999 0.00001
NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val) rs749726502 0.00001
NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser) rs201683789 0.00001
NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=) rs769037057 0.00001
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly) rs777159553 0.00001
NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr) rs367612243 0.00001
NM_182961.4(SYNE1):c.*138A>G rs2051574407 0.00001
NM_182961.4(SYNE1):c.*166G>A rs958754447 0.00001
NM_182961.4(SYNE1):c.*181C>T rs150886628 0.00001
NM_182961.4(SYNE1):c.*368T>C rs927168592 0.00001
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln) rs773410652 0.00001
NM_182961.4(SYNE1):c.10093A>G (p.Ser3365Gly) rs545457219 0.00001
NM_182961.4(SYNE1):c.10178G>A (p.Ser3393Asn) rs1221490895 0.00001
NM_182961.4(SYNE1):c.10196G>A (p.Arg3399Gln) rs368647352 0.00001
NM_182961.4(SYNE1):c.10223T>A (p.Met3408Lys) rs1212823311 0.00001
NM_182961.4(SYNE1):c.1027A>G (p.Asn343Asp) rs1289374962 0.00001
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu) rs760727534 0.00001
NM_182961.4(SYNE1):c.1028A>G (p.Asn343Ser) rs372451128 0.00001
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val) rs1270266905 0.00001
NM_182961.4(SYNE1):c.10415G>A (p.Arg3472Gln) rs1255278240 0.00001
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile) rs886043016 0.00001
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=) rs1246237055 0.00001
NM_182961.4(SYNE1):c.1063A>G (p.Arg355Gly) rs149532009 0.00001
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys) rs1485693688 0.00001
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln) rs751191478 0.00001
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769 0.00001
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr) rs752209637 0.00001
NM_182961.4(SYNE1):c.10789G>T (p.Val3597Leu) rs1301268425 0.00001
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser) rs1444678849 0.00001
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala) rs372327585 0.00001
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr) rs2098931321 0.00001
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His) rs758415122 0.00001
NM_182961.4(SYNE1):c.11202G>C (p.Lys3734Asn) rs761089261 0.00001
NM_182961.4(SYNE1):c.11285G>A (p.Ser3762Asn) rs780889581 0.00001
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp) rs572106956 0.00001
NM_182961.4(SYNE1):c.11496A>G (p.Ile3832Met) rs1554518035 0.00001
NM_182961.4(SYNE1):c.11659G>C (p.Val3887Leu) rs753931727 0.00001
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu) rs775097525 0.00001
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr) rs772794050 0.00001
NM_182961.4(SYNE1):c.11729G>A (p.Gly3910Glu) rs373095359 0.00001
NM_182961.4(SYNE1):c.1176G>A (p.Val392=) rs776130961 0.00001
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys) rs746532554 0.00001
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn) rs369515853 0.00001
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly) rs761744256 0.00001
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser) rs780777858 0.00001
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val) rs886044158 0.00001
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile) rs754971865 0.00001
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe) rs1294787806 0.00001
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly) rs767294741 0.00001
NM_182961.4(SYNE1):c.1228C>G (p.Pro410Ala) rs770374751 0.00001
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser) rs1201675371 0.00001
NM_182961.4(SYNE1):c.12308C>T (p.Ser4103Leu) rs376766873 0.00001
NM_182961.4(SYNE1):c.12422A>C (p.Glu4141Ala) rs1449281199 0.00001
NM_182961.4(SYNE1):c.1242A>G (p.Ile414Met) rs2098918498 0.00001
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp) rs1459930095 0.00001
NM_182961.4(SYNE1):c.12499A>G (p.Ile4167Val) rs769992083 0.00001
NM_182961.4(SYNE1):c.12541A>C (p.Lys4181Gln) rs2096324088 0.00001
NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr) rs537532640 0.00001
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr) rs745331052 0.00001
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr) rs200140440 0.00001
NM_182961.4(SYNE1):c.12844G>C (p.Ala4282Pro) rs1384390262 0.00001
NM_182961.4(SYNE1):c.12889G>A (p.Asp4297Asn) rs757271177 0.00001
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu) rs751661906 0.00001
NM_182961.4(SYNE1):c.12908T>A (p.Ile4303Lys) rs752624372 0.00001
NM_182961.4(SYNE1):c.12985G>A (p.Glu4329Lys) rs752661205 0.00001
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg) rs543437113 0.00001
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His) rs34464554 0.00001
NM_182961.4(SYNE1):c.13094C>A (p.Pro4365His) rs779970152 0.00001
NM_182961.4(SYNE1):c.13099A>G (p.Ile4367Val) rs1157664680 0.00001
NM_182961.4(SYNE1):c.13100T>C (p.Ile4367Thr) rs371405185 0.00001
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe) rs768553487 0.00001
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro) rs745789075 0.00001
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser) rs886042314 0.00001
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys) rs778601377 0.00001
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys) rs571224180 0.00001
NM_182961.4(SYNE1):c.13573A>G (p.Thr4525Ala) rs909205583 0.00001
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg) rs747550581 0.00001
NM_182961.4(SYNE1):c.13684G>A (p.Val4562Ile) rs973116936 0.00001
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro) rs762392590 0.00001
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu) rs377099959 0.00001
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser) rs1362233016 0.00001
NM_182961.4(SYNE1):c.13952A>T (p.Gln4651Leu) rs374697325 0.00001
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu) rs1166869172 0.00001
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys) rs367979558 0.00001
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp) rs1469601635 0.00001
NM_182961.4(SYNE1):c.14140G>A (p.Asp4714Asn) rs765759628 0.00001
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile) rs952688216 0.00001
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr) rs759856569 0.00001
NM_182961.4(SYNE1):c.14189T>A (p.Val4730Glu) rs141752799 0.00001
NM_182961.4(SYNE1):c.14225G>A (p.Ser4742Asn) rs763637795 0.00001
NM_182961.4(SYNE1):c.14341C>G (p.Gln4781Glu) rs750831528 0.00001
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu) rs764205112 0.00001
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=) rs758516967 0.00001
NM_182961.4(SYNE1):c.14485G>A (p.Gly4829Arg) rs1278211656 0.00001
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657 0.00001
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val) rs931699788 0.00001
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser) rs1237053788 0.00001
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp) rs1159750019 0.00001
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His) rs150266354 0.00001
NM_182961.4(SYNE1):c.14722A>C (p.Ser4908Arg) rs750417575 0.00001
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe) rs555355654 0.00001
NM_182961.4(SYNE1):c.14833A>C (p.Ser4945Arg) rs2096203231 0.00001
NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr) rs1392726878 0.00001
NM_182961.4(SYNE1):c.14948C>T (p.Thr4983Ile) rs765961446 0.00001
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His) rs890021376 0.00001
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys) rs753602210 0.00001
NM_182961.4(SYNE1):c.15106A>G (p.Met5036Val) rs755539687 0.00001
NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln) rs533927341 0.00001
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser) rs373690809 0.00001
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=) rs370314344 0.00001
NM_182961.4(SYNE1):c.15245G>A (p.Ser5082Asn) rs760935405 0.00001
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr) rs750676780 0.00001
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=) rs780437149 0.00001
NM_182961.4(SYNE1):c.15366G>T (p.Lys5122Asn) rs764169067 0.00001
NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu) rs771550432 0.00001
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln) rs544309811 0.00001
NM_182961.4(SYNE1):c.15557C>A (p.Thr5186Asn) rs768676733 0.00001
NM_182961.4(SYNE1):c.15587G>A (p.Arg5196Gln) rs752229373 0.00001
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu) rs764500952 0.00001
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln) rs201750136 0.00001
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329 0.00001
NM_182961.4(SYNE1):c.15917+9G>A rs779265988 0.00001
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser) rs779313924 0.00001
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln) rs1233067296 0.00001
NM_182961.4(SYNE1):c.16237-10A>T rs201078255 0.00001
NM_182961.4(SYNE1):c.16294C>T (p.Arg5432Trp) rs575137601 0.00001
NM_182961.4(SYNE1):c.16313C>T (p.Ala5438Val) rs1229397934 0.00001
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala) rs148295255 0.00001
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly) rs747824937 0.00001
NM_182961.4(SYNE1):c.16544C>G (p.Ala5515Gly) rs1021830711 0.00001
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp) rs769306377 0.00001
NM_182961.4(SYNE1):c.16601A>C (p.Glu5534Ala) rs1313738847 0.00001
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg) rs928178334 0.00001
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=) rs142010074 0.00001
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln) rs746879340 0.00001
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys) rs749088509 0.00001
NM_182961.4(SYNE1):c.169A>G (p.Met57Val) rs1031712545 0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608 0.00001
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys) rs1227780117 0.00001
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr) rs759609921 0.00001
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser) rs774018511 0.00001
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val) rs762422242 0.00001
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532 0.00001
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr) rs775815795 0.00001
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val) rs987594036 0.00001
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln) rs2095193468 0.00001
NM_182961.4(SYNE1):c.17544G>A (p.Met5848Ile) rs766625615 0.00001
NM_182961.4(SYNE1):c.17564C>T (p.Thr5855Ile) rs1336941426 0.00001
NM_182961.4(SYNE1):c.17624C>A (p.Ser5875Tyr) rs1043563187 0.00001
NM_182961.4(SYNE1):c.17912C>G (p.Ser5971Cys) rs753835774 0.00001
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr) rs375798794 0.00001
NM_182961.4(SYNE1):c.17980_17988del (p.Arg5994_Pro5996del) rs2094716921 0.00001
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772 0.00001
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln) rs745822192 0.00001
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726 0.00001
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser) rs557248018 0.00001
NM_182961.4(SYNE1):c.18113C>T (p.Ala6038Val) rs752183118 0.00001
NM_182961.4(SYNE1):c.18137C>T (p.Thr6046Met) rs372219741 0.00001
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys) rs1279573379 0.00001
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile) rs899182753 0.00001
NM_182961.4(SYNE1):c.18326C>T (p.Ala6109Val) rs549373990 0.00001
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser) rs764725032 0.00001
NM_182961.4(SYNE1):c.18573+3G>A rs886044046 0.00001
NM_182961.4(SYNE1):c.18594G>C (p.Glu6198Asp) rs776024100 0.00001
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641 0.00001
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro) rs538161615 0.00001
NM_182961.4(SYNE1):c.18745C>T (p.Arg6249Cys) rs1270352436 0.00001
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro) rs371489057 0.00001
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys) rs139449273 0.00001
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His) rs752272082 0.00001
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu) rs141196768 0.00001
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala) rs965275563 0.00001
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357 0.00001
NM_182961.4(SYNE1):c.19124A>G (p.Gln6375Arg) rs909589026 0.00001
NM_182961.4(SYNE1):c.19223T>C (p.Leu6408Ser) rs758337239 0.00001
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly) rs1398807335 0.00001
NM_182961.4(SYNE1):c.19352G>A (p.Arg6451Gln) rs943903359 0.00001
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn) rs376421422 0.00001
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe) rs1453005046 0.00001
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser) rs756816038 0.00001
NM_182961.4(SYNE1):c.19470+5G>A rs775233950 0.00001
NM_182961.4(SYNE1):c.19492A>G (p.Thr6498Ala) rs2088379630 0.00001
NM_182961.4(SYNE1):c.19600A>C (p.Lys6534Gln) rs1377270650 0.00001
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys) rs369420729 0.00001
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His) rs375565416 0.00001
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487 0.00001
NM_182961.4(SYNE1):c.1984G>A (p.Asp662Asn) rs755573339 0.00001
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val) rs368088542 0.00001
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr) rs764885262 0.00001
NM_182961.4(SYNE1):c.19970A>G (p.Gln6657Arg) rs751964300 0.00001
NM_182961.4(SYNE1):c.20003C>T (p.Ala6668Val) rs1483994641 0.00001
NM_182961.4(SYNE1):c.20234A>G (p.Lys6745Arg) rs769256850 0.00001
NM_182961.4(SYNE1):c.20278A>G (p.Ile6760Val) rs532550838 0.00001
NM_182961.4(SYNE1):c.20314C>T (p.Leu6772Phe) rs1309947836 0.00001
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys) rs539439844 0.00001
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala) rs753654674 0.00001
NM_182961.4(SYNE1):c.20433A>T (p.Leu6811Phe) rs766238098 0.00001
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala) rs886043522 0.00001
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774 0.00001
NM_182961.4(SYNE1):c.20627C>T (p.Thr6876Met) rs144417950 0.00001
NM_182961.4(SYNE1):c.20645C>T (p.Ser6882Leu) rs373012438 0.00001
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys) rs746823107 0.00001
NM_182961.4(SYNE1):c.20650A>G (p.Ile6884Val) rs752179906 0.00001
NM_182961.4(SYNE1):c.20762G>A (p.Ser6921Asn) rs372288820 0.00001
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val) rs191912037 0.00001
NM_182961.4(SYNE1):c.20836A>G (p.Ile6946Val) rs758767378 0.00001
NM_182961.4(SYNE1):c.2086G>A (p.Glu696Lys) rs746477050 0.00001
NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met) rs767422903 0.00001
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His) rs772675312 0.00001
NM_182961.4(SYNE1):c.21039+6C>G rs368575705 0.00001
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala) rs777755452 0.00001
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro) rs772233604 0.00001
NM_182961.4(SYNE1):c.2118G>A (p.Met706Ile) rs757676303 0.00001
NM_182961.4(SYNE1):c.21197A>G (p.Asp7066Gly) rs755014049 0.00001
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val) rs749058571 0.00001
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg) rs769405487 0.00001
NM_182961.4(SYNE1):c.2155A>G (p.Thr719Ala) rs1792916692 0.00001
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr) rs1257118792 0.00001
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val) rs763768133 0.00001
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser) rs1348902701 0.00001
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu) rs749718460 0.00001
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=) rs775672135 0.00001
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe) rs760237153 0.00001
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile) rs747185019 0.00001
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe) rs753138419 0.00001
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr) rs1029115177 0.00001
NM_182961.4(SYNE1):c.22163C>T (p.Thr7388Ile) rs938003229 0.00001
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys) rs751761981 0.00001
NM_182961.4(SYNE1):c.22304G>A (p.Arg7435His) rs748260996 0.00001
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568 0.00001
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val) rs751450784 0.00001
NM_182961.4(SYNE1):c.22431A>C (p.Gln7477His) rs752421314 0.00001
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys) rs762050668 0.00001
NM_182961.4(SYNE1):c.22543A>G (p.Ile7515Val) rs369260919 0.00001
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys) rs1383141765 0.00001
NM_182961.4(SYNE1):c.22693T>C (p.Trp7565Arg) rs1166773141 0.00001
NM_182961.4(SYNE1):c.22733G>T (p.Trp7578Leu) rs1215390720 0.00001
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met) rs1257304725 0.00001
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met) rs748623485 0.00001
NM_182961.4(SYNE1):c.22771G>A (p.Gly7591Arg) rs886042946 0.00001
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu) rs540603947 0.00001
NM_182961.4(SYNE1):c.22834A>G (p.Lys7612Glu) rs1434935687 0.00001
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu) rs776253447 0.00001
NM_182961.4(SYNE1):c.22838T>C (p.Val7613Ala) rs1402188826 0.00001
NM_182961.4(SYNE1):c.22847G>A (p.Arg7616Gln) rs780964504 0.00001
NM_182961.4(SYNE1):c.22905G>A (p.Ala7635=) rs758511859 0.00001
NM_182961.4(SYNE1):c.22929G>T (p.Leu7643Phe) rs764300736 0.00001
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp) rs763100950 0.00001
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro) rs1350005154 0.00001
NM_182961.4(SYNE1):c.2300C>T (p.Thr767Ile) rs750186803 0.00001
NM_182961.4(SYNE1):c.23069G>A (p.Arg7690Gln) rs1204207131 0.00001
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln) rs200066979 0.00001
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961 0.00001
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala) rs374073415 0.00001
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys) rs1289070478 0.00001
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe) rs778500015 0.00001
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His) rs779568455 0.00001
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) rs765427429 0.00001
NM_182961.4(SYNE1):c.23374C>A (p.Leu7792Ile) rs376844951 0.00001
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr) rs1391158473 0.00001
NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln) rs1259951823 0.00001
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile) rs781532655 0.00001
NM_182961.4(SYNE1):c.23617A>G (p.Ile7873Val) rs1249661326 0.00001
NM_182961.4(SYNE1):c.2374C>T (p.Leu792Phe) rs1172072268 0.00001
NM_182961.4(SYNE1):c.23766A>G (p.Ile7922Met) rs1399057012 0.00001
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys) rs1178007789 0.00001
NM_182961.4(SYNE1):c.23890G>A (p.Ala7964Thr) rs780744047 0.00001
NM_182961.4(SYNE1):c.23893G>A (p.Glu7965Lys) rs753219547 0.00001
NM_182961.4(SYNE1):c.23918C>T (p.Thr7973Met) rs558928607 0.00001
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp) rs762991088 0.00001
NM_182961.4(SYNE1):c.23957T>C (p.Met7986Thr) rs146463833 0.00001
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys) rs777371816 0.00001
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=) rs572195368 0.00001
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862 0.00001
NM_182961.4(SYNE1):c.24004C>G (p.Gln8002Glu) rs1361081346 0.00001
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His) rs776221173 0.00001
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His) rs1042685641 0.00001
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys) rs1380424994 0.00001
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His) rs1338634888 0.00001
NM_182961.4(SYNE1):c.24312+8C>G rs780026181 0.00001
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln) rs777435137 0.00001
NM_182961.4(SYNE1):c.24401T>C (p.Ile8134Thr) rs774707282 0.00001
NM_182961.4(SYNE1):c.24424G>T (p.Val8142Phe) rs1389166406 0.00001
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His) rs775617906 0.00001
NM_182961.4(SYNE1):c.24535C>A (p.Pro8179Thr) rs2060075935 0.00001
NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln) rs201193141 0.00001
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg) rs886042886 0.00001
NM_182961.4(SYNE1):c.24839C>G (p.Ser8280Cys) rs1480247904 0.00001
NM_182961.4(SYNE1):c.24949T>C (p.Tyr8317His) rs777322468 0.00001
NM_182961.4(SYNE1):c.24983A>G (p.His8328Arg) rs1239507497 0.00001
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln) rs200684943 0.00001
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His) rs778080338 0.00001
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102 0.00001
NM_182961.4(SYNE1):c.25119C>T (p.Tyr8373=) rs144685965 0.00001
NM_182961.4(SYNE1):c.25132G>A (p.Gly8378Ser) rs780271781 0.00001
NM_182961.4(SYNE1):c.25144A>G (p.Ser8382Gly) rs1306354261 0.00001
NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly) rs200377339 0.00001
NM_182961.4(SYNE1):c.25246+3G>A rs765849365 0.00001
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu) rs1253032018 0.00001
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser) rs756645782 0.00001
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp) rs375616724 0.00001
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln) rs370008122 0.00001
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His) rs759577495 0.00001
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala) rs746452797 0.00001
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp) rs764235096 0.00001
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg) rs529921934 0.00001
NM_182961.4(SYNE1):c.25650G>A (p.Met8550Ile) rs1354935363 0.00001
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299 0.00001
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr) rs760698113 0.00001
NM_182961.4(SYNE1):c.25724A>T (p.Glu8575Val) rs1258380992 0.00001
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val) rs200178554 0.00001
NM_182961.4(SYNE1):c.25736T>C (p.Ile8579Thr) rs370566643 0.00001
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=) rs751355623 0.00001
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr) rs1229969547 0.00001
NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys) rs149045775 0.00001
NM_182961.4(SYNE1):c.26001+4A>G rs746958913 0.00001
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn) rs753533241 0.00001
NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln) rs147829200 0.00001
NM_182961.4(SYNE1):c.2608A>T (p.Thr870Ser) rs773195787 0.00001
NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln) rs758942329 0.00001
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894 0.00001
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe) rs751627369 0.00001
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His) rs1276774540 0.00001
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser) rs780574537 0.00001
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963 0.00001
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln) rs550697327 0.00001
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe) rs747405346 0.00001
NM_182961.4(SYNE1):c.2662G>A (p.Val888Met) rs756888254 0.00001
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu) rs898451919 0.00001
NM_182961.4(SYNE1):c.269C>T (p.Ala90Val) rs2099133562 0.00001
NM_182961.4(SYNE1):c.26G>A (p.Arg9Gln) rs1196383268 0.00001
NM_182961.4(SYNE1):c.2728-5T>A rs775558169 0.00001
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val) rs376880609 0.00001
NM_182961.4(SYNE1):c.2807G>A (p.Arg936Gln) rs537794828 0.00001
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr) rs570242828 0.00001
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn) rs1374710512 0.00001
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355 0.00001
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser) rs763255748 0.00001
NM_182961.4(SYNE1):c.310-469C>T rs762351812 0.00001
NM_182961.4(SYNE1):c.310-485A>G rs764771842 0.00001
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697 0.00001
NM_182961.4(SYNE1):c.3168G>T (p.Lys1056Asn) rs144982424 0.00001
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys) rs771821092 0.00001
NM_182961.4(SYNE1):c.3186+5G>A rs778578295 0.00001
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His) rs886061213 0.00001
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser) rs749547744 0.00001
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile) rs142734877 0.00001
NM_182961.4(SYNE1):c.3504+5G>A rs1398879746 0.00001
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val) rs750101869 0.00001
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe) rs1203451912 0.00001
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr) rs1226690928 0.00001
NM_182961.4(SYNE1):c.3643A>C (p.Lys1215Gln) rs370014940 0.00001
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met) rs767097288 0.00001
NM_182961.4(SYNE1):c.3740A>G (p.Glu1247Gly) rs908679898 0.00001
NM_182961.4(SYNE1):c.3762A>T (p.Glu1254Asp) rs745616824 0.00001
NM_182961.4(SYNE1):c.386T>C (p.Ile129Thr) rs1029244968 0.00001
NM_182961.4(SYNE1):c.3883C>G (p.Gln1295Glu) rs750865008 0.00001
NM_182961.4(SYNE1):c.3985G>C (p.Glu1329Gln) rs985588823 0.00001
NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys) rs770015858 0.00001
NM_182961.4(SYNE1):c.4192A>G (p.Asn1398Asp) rs758427132 0.00001
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn) rs202235488 0.00001
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu) rs1302474521 0.00001
NM_182961.4(SYNE1):c.4424C>T (p.Ser1475Leu) rs767883709 0.00001
NM_182961.4(SYNE1):c.4436T>A (p.Met1479Lys) rs1218913029 0.00001
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly) rs1289977041 0.00001
NM_182961.4(SYNE1):c.4517A>C (p.Glu1506Ala) rs577388500 0.00001
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His) rs1378400021 0.00001
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr) rs750659947 0.00001
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg) rs573641821 0.00001
NM_182961.4(SYNE1):c.4609C>G (p.Arg1537Gly) rs983431074 0.00001
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys) rs755101379 0.00001
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr) rs775729666 0.00001
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val) rs753598584 0.00001
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met) rs199797561 0.00001
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys) rs373448917 0.00001
NM_182961.4(SYNE1):c.502A>G (p.Ser168Gly) rs776344465 0.00001
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr) rs1554680800 0.00001
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro) rs1364310674 0.00001
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001 0.00001
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg) rs200766001 0.00001
NM_182961.4(SYNE1):c.5291T>C (p.Val1764Ala) rs761352115 0.00001
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr) rs1481121106 0.00001
NM_182961.4(SYNE1):c.5421+5A>T rs755875029 0.00001
NM_182961.4(SYNE1):c.5515C>T (p.Leu1839Phe) rs746812274 0.00001
NM_182961.4(SYNE1):c.5711T>G (p.Leu1904Trp) rs1179461369 0.00001
NM_182961.4(SYNE1):c.5722G>T (p.Asp1908Tyr) rs369176646 0.00001
NM_182961.4(SYNE1):c.5831A>G (p.Gln1944Arg) rs1483236627 0.00001
NM_182961.4(SYNE1):c.5843G>T (p.Cys1948Phe) rs761812821 0.00001
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala) rs773890189 0.00001
NM_182961.4(SYNE1):c.5923G>T (p.Ala1975Ser) rs750263410 0.00001
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val) rs746384499 0.00001
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile) rs1467783489 0.00001
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys) rs767563434 0.00001
NM_182961.4(SYNE1):c.6104T>C (p.Leu2035Pro) rs2098103147 0.00001
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys) rs746057788 0.00001
NM_182961.4(SYNE1):c.6407A>G (p.Asn2136Ser) rs754275815 0.00001
NM_182961.4(SYNE1):c.6416A>G (p.Gln2139Arg) rs1014104831 0.00001
NM_182961.4(SYNE1):c.6524T>C (p.Val2175Ala) rs376472102 0.00001
NM_182961.4(SYNE1):c.6646T>C (p.Cys2216Arg) rs1183559257 0.00001
NM_182961.4(SYNE1):c.6723+5A>C rs755302313 0.00001
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr) rs371609288 0.00001
NM_182961.4(SYNE1):c.6883G>A (p.Ala2295Thr) rs758161551 0.00001
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly) rs777595583 0.00001
NM_182961.4(SYNE1):c.6977C>T (p.Ser2326Leu) rs752405422 0.00001
NM_182961.4(SYNE1):c.7030-4G>C rs112853992 0.00001
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys) rs780033455 0.00001
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His) rs554035671 0.00001
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser) rs140948068 0.00001
NM_182961.4(SYNE1):c.7364C>T (p.Ser2455Leu) rs969369417 0.00001
NM_182961.4(SYNE1):c.746A>T (p.Glu249Val) rs750178248 0.00001
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp) rs773876679 0.00001
NM_182961.4(SYNE1):c.7525G>T (p.Ala2509Ser) rs748362030 0.00001
NM_182961.4(SYNE1):c.7537T>G (p.Cys2513Gly) rs1271079717 0.00001
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys) rs764800126 0.00001
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys) rs886061209 0.00001
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys) rs768574390 0.00001
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile) rs144069436 0.00001
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln) rs769840610 0.00001
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys) rs1186798259 0.00001
NM_182961.4(SYNE1):c.7879G>A (p.Glu2627Lys) rs754203591 0.00001
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn) rs775185806 0.00001
NM_182961.4(SYNE1):c.7987C>T (p.Arg2663Trp) rs770461993 0.00001
NM_182961.4(SYNE1):c.8004+5A>G rs746589347 0.00001
NM_182961.4(SYNE1):c.8081G>A (p.Ser2694Asn) rs1241632741 0.00001
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser) rs202207690 0.00001
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile) rs794727764 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp) rs757720748 0.00001
NM_182961.4(SYNE1):c.863C>T (p.Ala288Val) rs746752458 0.00001
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met) rs371229610 0.00001
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His) rs148998248 0.00001
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn) rs143313866 0.00001
NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val) rs1202916520 0.00001
NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val) rs753512972 0.00001
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn) rs766072795 0.00001
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys) rs760074927 0.00001
NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr) rs527822279 0.00001
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser) rs200939886 0.00001
NM_182961.4(SYNE1):c.9046A>G (p.Thr3016Ala) rs2097290792 0.00001
NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser) rs766846025 0.00001
NM_182961.4(SYNE1):c.9170G>A (p.Gly3057Asp) rs761071366 0.00001
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser) rs2097283921 0.00001
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198 0.00001
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr) rs1591443794 0.00001
NM_182961.4(SYNE1):c.9355C>T (p.His3119Tyr) rs373615823 0.00001
NM_182961.4(SYNE1):c.9472C>A (p.His3158Asn) rs1484236534 0.00001
NM_182961.4(SYNE1):c.9507+6T>C rs372138410 0.00001
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys) rs761121679 0.00001
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr) rs1398398021 0.00001
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met) rs587777426 0.00001
NM_182961.4(SYNE1):c.962A>G (p.Lys321Arg) rs1295360409 0.00001
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val) rs774469372 0.00001
NM_182961.4(SYNE1):c.9857C>T (p.Ser3286Phe) rs770774159 0.00001
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu) rs559031643 0.00001
NM_182961.4(SYNE1):c.9941G>A (p.Ser3314Asn) rs1188481121 0.00001
NM_198994.3(TGM6):c.1332G>A (p.Pro444=) rs763791368 0.00001
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu) rs199968743 0.00001
NM_198994.3(TGM6):c.1501G>A (p.Val501Met) rs764377731 0.00001
NM_198994.3(TGM6):c.516A>G (p.Ile172Met) rs779578465 0.00001
NM_198994.3(TGM6):c.787A>G (p.Lys263Glu) rs886056552 0.00001
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln) rs776511523 0.00001
46;XY;t(10;14)(p13;q32.1)dn
GRCh37/hg19 22q11.23(chr22:23720171-25065576)
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
NC_000001.10:g.(?_112524223)_(112525348_?)dup
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202488978)_(202508123_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NC_000006.11:g.(?_152527283)_(152532743_?)del
NC_000006.11:g.(?_152599204)_(152603135_?)dup
NC_000008.10:g.(?_67786376)_(68165857_?)dup
NC_000008.10:g.(?_67976634)_(68071392_?)dup
NC_000008.10:g.(?_68015252)_(68015390_?)dup
NC_000008.10:g.(?_68024187)_(68107828_?)dup
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NC_000008.10:g.(?_68024197)_(68107828_?)dup
NC_000008.10:g.(?_68070662)_(68071392_?)del
NC_000008.10:g.(?_68105679)_(68105857_?)del
NC_000008.11:g.(?_67010715)_(67064496_?)dup
NC_000008.11:g.(?_67111972)_(67218138_?)dup
NC_000008.11:g.(?_67193464)_(67193602_?)del
NC_000008.11:g.67195383TGA[3] rs772729206
NC_000009.11:g.(?_135156834)_(135156981_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)dup
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NC_000010.10:g.(?_104262628)_(104309873_?)dup
NC_000010.10:g.(?_104262628)_(104595248_?)dup
NC_000010.10:g.(?_104375015)_(104389912_?)del
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NC_000014.8:g.(?_58894347)_(58894375_?)del
NC_000014.8:g.(?_58894347)_(58899195_?)dup
NC_000014.8:g.(?_58894347)_(59014694_?)dup
NC_000014.8:g.(?_58910652)_(58910913_?)del
NC_000014.8:g.(?_59010581)_(59014694_?)dup
NC_000016.10:g.(?_78386840)_(78432772_?)dup
NC_000016.10:g.(?_78386840)_(78624496_?)dup
NC_000016.9:g.(?_75573892)_(75574092_?)del
NC_000016.9:g.(?_75573892)_(75579872_?)dup
NC_000016.9:g.(?_75579704)_(75590169_?)dup
NC_000016.9:g.(?_75589682)_(75690509_?)dup
NC_000016.9:g.(?_78133656)_(78133806_?)dup
NC_000016.9:g.(?_78133656)_(78149071_?)dup
NC_000016.9:g.(?_78133656)_(78458972_?)dup
NC_000016.9:g.(?_78133656)_(78466669_?)dup
NC_000016.9:g.(?_78133656)_(78658393_?)dup
NC_000016.9:g.(?_78133671)_(78466659_?)dup
NC_000016.9:g.(?_78133676)_(78420865_?)dup
NC_000016.9:g.(?_78133676)_(78466669_?)dup
NC_000016.9:g.(?_78312480)_(78466669_?)dup
NC_000016.9:g.(?_78312480)_(78658393_?)dup
NC_012920.1:m.14771C>A rs1556424489
NC_012920.1:m.9355A>T rs1556423663
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg) rs587782016
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn) rs431825280
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) rs398122725
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser) rs1249900164
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu) rs1555282154
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu) rs397507282
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val) rs1555282574
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg) rs80358512
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser) rs80358526
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val) rs1566227648
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr) rs1403318277
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile) rs1555283763
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg) rs397507336
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr) rs1060502462
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr) rs80358907
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile) rs1555286026
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr) rs587781493
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe) rs80359195
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp) rs1555289516
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000370.3(TTPA):c.*1135T>C rs886063062
NM_000370.3(TTPA):c.*1164A>T rs886063061
NM_000370.3(TTPA):c.*1176ATA[1] rs548084272
NM_000370.3(TTPA):c.*1247A>G rs1277245038
NM_000370.3(TTPA):c.*1394A>G rs886063060
NM_000370.3(TTPA):c.*1424C>T rs577649057
NM_000370.3(TTPA):c.*1469ATAA[3] rs773557348
NM_000370.3(TTPA):c.*1598C>T rs886063059
NM_000370.3(TTPA):c.*265T>C rs1805296752
NM_000370.3(TTPA):c.*452T>C rs886063066
NM_000370.3(TTPA):c.*496T>G rs565583075
NM_000370.3(TTPA):c.*595C>G rs760669854
NM_000370.3(TTPA):c.*817G>A rs975457415
NM_000370.3(TTPA):c.-1C>T rs1349901379
NM_000370.3(TTPA):c.123G>A (p.Pro41=) rs1368032681
NM_000370.3(TTPA):c.131C>T (p.Pro44Leu) rs928983374
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile) rs2129795826
NM_000370.3(TTPA):c.144C>G (p.Thr48=) rs1805743504
NM_000370.3(TTPA):c.166C>T (p.Leu56=) rs1482746572
NM_000370.3(TTPA):c.177G>C (p.Arg59=) rs1805742361
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp) rs1554524054
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.552G>T (p.Thr184=) rs181109321
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter) rs1554605276
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile) rs1233515069
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) rs769487055
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala) rs759622995
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
NM_000784.4(CYP27A1):c.1017+15_1017+18del rs1679085939
NM_000784.4(CYP27A1):c.1017+5G>C rs370304209
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro) rs2106479125
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn) rs2105980881
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys) rs760471205
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro) rs1463950337
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg) rs886043798
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln) rs139426361
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu) rs2105980922
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp) rs1559384559
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) rs1559384559
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp) rs369969903
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) rs536176295
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) rs1943755995
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+3A>G rs1943757633
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe) rs1943764288
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly) rs2105981100
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala) rs755343859
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg) rs2106479143
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1263+5G>A
NM_000784.4(CYP27A1):c.1264-14A>G rs1285698631
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) rs774127681
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) rs730882199
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val) rs1039198612
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys) rs2105981257
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp) rs777432192
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val) rs777432192
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu) rs2105981259
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) rs2105981320
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val) rs1024898619
NM_000784.4(CYP27A1):c.1477-3C>A rs78938783
NM_000784.4(CYP27A1):c.1477-3C>G rs78938783
NM_000784.4(CYP27A1):c.1477-3C>T rs78938783
NM_000784.4(CYP27A1):c.1477-8C>G
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) rs1943396793
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe) rs970661282
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro) rs1333445399
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu) rs144701596
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu) rs2105981476
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val) rs1178180058
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly) rs757522001
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) rs911127639
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly) rs1943775075
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) rs1553614310
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro) rs1191317525
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys) rs1943400890
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu) rs2106479175
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) rs1170171291
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln) rs753981913
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met) rs374769409
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly) rs1441761338
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg) rs531504325
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly) rs1943692342
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000784.4(CYP27A1):c.447-3C>A
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) rs768932304
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) rs1270373689
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr) rs2105979908
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val) rs759338714
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly) rs59443548
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu) rs200753815
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) rs2105980019
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) rs1943727741
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) rs2105980045
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) rs760323157
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr) rs2105980154
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu) rs1943733556
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn) rs144068826
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys) rs2105980216
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe) rs763461546
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His) rs757682669
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) rs757682669
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) rs1167915356
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
NM_000784.4(CYP27A1):c.844+4A>G rs1016174396
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
NM_000784.4(CYP27A1):c.844+6G>A rs1943737223
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) rs2105980394
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val) rs1417655712
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr) rs1275043449
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) rs1399829248
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)
NM_000924.4(PDE1B):c.735+5G>A
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu) rs2090483867
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg) rs782081961
NM_001001344.3(ATP2B3):c.2541C>G (p.Asp847Glu)
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp) rs1227019809
NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
NM_001001344.3(ATP2B3):c.971A>G (p.Asp324Gly)
NM_001005920.4(JMJD8):c.*1009T>C rs2151505130
NM_001005920.4(JMJD8):c.*903G>C rs1567281056
NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr) rs1017436032
NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu) rs779524509
NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met) rs1640041056
NM_001020658.2(PUM1):c.2592-5T>G
NM_001020658.2(PUM1):c.3283G>A (p.Glu1095Lys) rs1639226190
NM_001020658.2(PUM1):c.364G>A (p.Val122Met) rs1643312973
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile) rs1187853515
NM_001020658.2(PUM1):c.896C>A (p.Pro299His) rs1641834551
NM_001020658.2(PUM1):c.926T>C (p.Val309Ala)
NM_001020658.2(PUM1):c.949A>C (p.Asn317His) rs2124486243
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1436G>T rs528180812
NM_001044385.3(TMEM237):c.*1606T>C rs1000633418
NM_001044385.3(TMEM237):c.*1879G>A rs1301264448
NM_001044385.3(TMEM237):c.*1890G>A rs191383267
NM_001044385.3(TMEM237):c.*2307A>G rs1957712077
NM_001044385.3(TMEM237):c.*2448C>A rs1234909902
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C rs1957709069
NM_001044385.3(TMEM237):c.*2652A>G rs1957708713
NM_001044385.3(TMEM237):c.*2670C>T rs1559581980
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T rs1957734276
NM_001044385.3(TMEM237):c.*3350A>T rs561312621
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*62A>G rs1957736360
NM_001044385.3(TMEM237):c.*663G>C rs940503609
NM_001044385.3(TMEM237):c.*781G>A rs1957729006
NM_001044385.3(TMEM237):c.*895C>G rs1957727656
NM_001044385.3(TMEM237):c.*940A>C rs1957727275
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu) rs1957756642
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu) rs138509553
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala) rs1957756375
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn) rs1362249907
NM_001044385.3(TMEM237):c.1159+3A>G rs754717992
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser) rs1957737864
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1]) rs765428296
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs) rs761770686
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser) rs1376540567
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu) rs562984785
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe) rs1687306098
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His) rs768568104
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser) rs376226585
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val) rs1369476710
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr) rs367728637
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln) rs778373105
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln) rs2105906100
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile) rs1324625933
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn) rs1687222402
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys) rs1319201699
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr) rs2105900828
NM_001044385.3(TMEM237):c.42+6C>T
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr) rs2105900282
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met) rs2105900253
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser) rs772074875
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=) rs1957812548
NM_001044385.3(TMEM237):c.553+2dup rs1957812399
NM_001044385.3(TMEM237):c.553+3dup rs1957812369
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu) rs1202199961
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile) rs767769973
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe) rs2105899190
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu) rs769861092
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg) rs1163877651
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser) rs763431945
NM_001044385.3(TMEM237):c.74+12_74+14del
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys) rs2105898977
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro) rs992818026
NM_001044385.3(TMEM237):c.79+5G>C
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile) rs1015591586
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr) rs1343901400
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
NM_001044385.3(TMEM237):c.870-8T>G rs2105898458
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly) rs2105898418
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg) rs1380123430
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro) rs2105898403
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp) rs1043186259
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val) rs2105898068
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg) rs1957768968
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg) rs1057148787
NM_001077418.2(TMEM231):c.-53A>G rs1176007249
NM_001077418.2(TMEM231):c.-55C>T rs2151711350
NM_001077418.2(TMEM231):c.-59G>A
NM_001077418.2(TMEM231):c.-61T>G
NM_001077418.3(TMEM231):c.-16C>A
NM_001077418.3(TMEM231):c.-17G>T rs768513169
NM_001077418.3(TMEM231):c.-22G>C
NM_001077418.3(TMEM231):c.-25C>T
NM_001077418.3(TMEM231):c.-38T>C rs758946916
NM_001077418.3(TMEM231):c.-41A>C rs765256905
NM_001077418.3(TMEM231):c.-8C>T rs780752063
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
NM_001077418.3(TMEM231):c.139+14G>A
NM_001077418.3(TMEM231):c.139+28G>A rs370005084
NM_001077418.3(TMEM231):c.139+44G>T
NM_001077418.3(TMEM231):c.140-10T>C rs2151710900
NM_001077418.3(TMEM231):c.140-33C>G rs901311435
NM_001077418.3(TMEM231):c.140-39G>A
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu) rs2151710882
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys) rs772102451
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp) rs1350319069
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val) rs2151710764
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val) rs2080804915
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn) rs753709447
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile) rs2151710524
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.310-18C>T
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly) rs1415195367
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) rs1348700844
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) rs1202833405
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
NM_001077418.3(TMEM231):c.438+3G>A rs1183368030
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg) rs2080678228
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu) rs549400559
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe) rs1280264089
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu) rs2151702535
NM_001077418.3(TMEM231):c.583-3C>G
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) rs2080639506
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
NM_001077418.3(TMEM231):c.664+1G>A
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu) rs397514753
NM_001077418.3(TMEM231):c.665-19_665-13del
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val) rs1567441268
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr) rs139236786
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu) rs1277858041
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G rs2080625882
NM_001077418.3(TMEM231):c.770+6C>G
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) rs758048238
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) rs2151697774
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr) rs2151697600
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg) rs1891910013
NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)
NM_001080414.4(CCDC88C):c.3320ACA[1] (p.Asn1108del)
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg) rs1407640264
NM_001080414.4(CCDC88C):c.3554A>C (p.Tyr1185Ser)
NM_001080414.4(CCDC88C):c.5440C>T (p.Arg1814Trp)
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu) rs771028975
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) rs547323858
NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)
NM_001114748.2(TMEM240):c.265G>A (p.Asp89Asn)
NM_001114748.2(TMEM240):c.328G>A (p.Val110Ile)
NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro) rs2145030753
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val) rs1060499675
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) rs2057721231
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr) rs1568473283
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp) rs1275025158
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser) rs2144748359
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu) rs2144646945
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp) rs2144595194
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) rs1085307557
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) rs2059190094
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser) rs1760808820
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_001129729.3(PLEKHG4):c.-16C>T rs886041026
NM_001130698.2(TRPC3):c.2216T>C (p.Leu739Pro)
NM_001130698.2(TRPC3):c.857C>G (p.Ser286Trp)
NM_001130698.2(TRPC3):c.949G>A (p.Glu317Lys) rs2149142103
NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) rs1057518774
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys) rs2089651800
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp) rs745780816
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val) rs2089593597
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln) rs2145258691
NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) rs1555687655
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) rs1568249130
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu) rs2145340495
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg) rs1599376406
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1568A>T rs969919726
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.*216G>A rs1781565852
NM_001134831.2(AHI1):c.*246T>C rs1781561968
NM_001134831.2(AHI1):c.*484G>A rs1045439496
NM_001134831.2(AHI1):c.*981C>T rs376956056
NM_001134831.2(AHI1):c.-332C>G rs944668049
NM_001134831.2(AHI1):c.-53A>G rs1461027288
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly) rs1787553194
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1912+15T>G rs1786478454
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=) rs1785751637
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys) rs958113326
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=) rs1583193331
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys) rs755780260
NM_001134831.2(AHI1):c.3109+14T>A rs1778988078
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg) rs750115460
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) rs1915232687
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) rs1915315281
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) rs748793270
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) rs199995527
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) rs374149596
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) rs150784268
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
NM_001167740.2(SMYD3):c.814-5812_814-3813del
NM_001173990.2(TMEM216):c.-128A>C rs886048411
NM_001173990.2(TMEM216):c.-285A>G rs139151563
NM_001173990.3(TMEM216):c.*190A>G rs1858851501
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*393C>T rs1858858010
NM_001173990.3(TMEM216):c.*548T>A rs1858863107
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.137-7T>C rs1554972545
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
NM_001173990.3(TMEM216):c.230-9dup rs1554972934
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) rs1554972964
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_001195248.2(APTX):c.742T>C (p.Leu248=) rs141195622
NM_001244189.2(KIAA0586):c.9+4A>C rs1029046238
NM_001244189.2(KIAA0586):c.9+5G>C
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) rs72554634
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144
NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile) rs1212150882
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) rs1022097029
NM_001278064.2(GRM1):c.851C>T (p.Ala284Val) rs1448466753
NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val) rs2148497936
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu) rs2122623348
NM_001329943.3(KIAA0586):c.*3G>A rs748083468
NM_001329943.3(KIAA0586):c.-20C>T
NM_001329943.3(KIAA0586):c.-28G>A
NM_001329943.3(KIAA0586):c.-2A>G
NM_001329943.3(KIAA0586):c.-33C>G rs1246692312
NM_001329943.3(KIAA0586):c.-4C>G
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile) rs186659284
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
NM_001329943.3(KIAA0586):c.1129+6A>C
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His) rs963677243
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys) rs2039563292
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp) rs190089844
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn) rs1349839476
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu) rs2140763302
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001329943.3(KIAA0586):c.1254-19A>T rs2140825179
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln) rs2140843404
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys) rs1323358756
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser) rs1245858530
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe) rs761150154
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) rs369211190
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) rs2040004897
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser) rs2140854100
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser) rs2140874422
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg) rs780461594
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) rs940229482
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly) rs1210187670
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe) rs2140886222
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro) rs1473572852
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg) rs769913250
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser) rs2140375856
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu) rs751924115
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala) rs2140939104
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn) rs1868384082
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
NM_001329943.3(KIAA0586):c.213_270+11dup
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys) rs2140939862
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr) rs757373300
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr) rs750671663
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser) rs2140940326
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala) rs1489902309
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
NM_001329943.3(KIAA0586):c.2255-3T>C rs2140956887
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn) rs2140957750
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly) rs1302610013
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val) rs1302610013
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val) rs2140391234
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr) rs1320727649
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del) rs750244824
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His) rs763982126
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val) rs200219991
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr) rs2140987094
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe) rs749680733
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
NM_001329943.3(KIAA0586):c.2553+6T>C
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=) rs1024217852
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
NM_001329943.3(KIAA0586):c.2554-14A>G
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg) rs74055693
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val) rs2041278053
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val) rs868621645
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
NM_001329943.3(KIAA0586):c.2634+10C>G
NM_001329943.3(KIAA0586):c.2634+5C>G
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn) rs760087214
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr) rs780403471
NM_001329943.3(KIAA0586):c.270+3A>G rs2140391500
NM_001329943.3(KIAA0586):c.270+7A>C
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala) rs753434086
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg) rs2141025129
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del) rs2141025393
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
NM_001329943.3(KIAA0586):c.2826-8C>A rs2141053167
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile) rs2141053576
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile) rs1161690227
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly) rs2141054763
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys) rs2140372595
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp) rs182274649
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val) rs767378597
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp) rs2042116751
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys) rs367811307
NM_001329943.3(KIAA0586):c.3144+3A>G rs956345090
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys) rs1472123420
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro) rs1453619075
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys) rs2140404760
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu) rs2141182370
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn) rs2042507801
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly) rs187091758
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
NM_001329943.3(KIAA0586):c.3304+5A>C
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
NM_001329943.3(KIAA0586):c.3305-3T>C
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn) rs2141192396
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile) rs2141193303
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del) rs770153870
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr) rs2141193523
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe) rs1409454378
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys) rs2141194171
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu) rs2042587558
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr) rs2141194729
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val) rs2141194889
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys) rs778492541
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del) rs778377845
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg) rs2141195740
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu) rs750251144
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln) rs754567597
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn) rs780785984
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His) rs368352741
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala) rs1292752792
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser) rs183240083
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys) rs2140422825
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val) rs2037453984
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr) rs756960694
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del) rs1399193101
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) rs748648408
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
NM_001329943.3(KIAA0586):c.3858+4A>G rs2042748796
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu) rs2141237535
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) rs779179754
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val) rs1369311999
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln) rs1270703288
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg) rs1260148388
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His) rs2043350107
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile) rs2043350903
NM_001329943.3(KIAA0586):c.410+3A>G
NM_001329943.3(KIAA0586):c.411-1364A>G
NM_001329943.3(KIAA0586):c.411-1381C>T rs749413114
NM_001329943.3(KIAA0586):c.411-1404G>A
NM_001329943.3(KIAA0586):c.411-1405T>C
NM_001329943.3(KIAA0586):c.411-1409C>T rs2140521828
NM_001329943.3(KIAA0586):c.411-1427A>G
NM_001329943.3(KIAA0586):c.411-1431C>G
NM_001329943.3(KIAA0586):c.411-1448G>A
NM_001329943.3(KIAA0586):c.411-1494C>A
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr) rs2141310739
NM_001329943.3(KIAA0586):c.4168+5A>G
NM_001329943.3(KIAA0586):c.4168+6C>T
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val) rs1164983892
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly) rs2141430559
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp) rs746899731
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile) rs1356513118
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly) rs548063080
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser) rs2141431422
NM_001329943.3(KIAA0586):c.4323+3A>G
NM_001329943.3(KIAA0586):c.4323+4C>T rs2044176022
NM_001329943.3(KIAA0586):c.4323+5C>G rs2141431529
NM_001329943.3(KIAA0586):c.4324-4T>G rs1429230924
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val) rs2141479700
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile) rs2141479904
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln) rs1051498929
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
NM_001329943.3(KIAA0586):c.4429+4A>G rs1017273332
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His) rs2140098041
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
NM_001329943.3(KIAA0586):c.4495+3762T>C
NM_001329943.3(KIAA0586):c.4495+3779A>G rs968172462
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
NM_001329943.3(KIAA0586):c.4495+3797T>C
NM_001329943.3(KIAA0586):c.4495+4A>G
NM_001329943.3(KIAA0586):c.4495+6A>G
NM_001329943.3(KIAA0586):c.4496-3814G>A rs2140128786
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=) rs2140156234
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr) rs2140156359
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu) rs542432352
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His) rs2140156856
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=) rs2140157005
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=) rs1301341396
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu) rs1202184988
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu) rs748340175
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly) rs2038635110
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser) rs2140373651
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu) rs1373940232
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln) rs774888789
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met) rs2140567428
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del) rs1290912165
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His) rs2140568101
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr) rs1417240682
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys) rs2039078597
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu) rs769369839
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr) rs2039080763
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu) rs2140662489
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly) rs2140663692
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe) rs2140664162
NM_001329943.3(KIAA0586):c.961+6_961+7del rs1308763926
NM_001329943.3(KIAA0586):c.962-3A>C
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile) rs1317366636
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val) rs780810159
NM_001347702.2(SYNE1):c.1444G>A (p.Val482Ile) rs1389837024
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
NM_001347702.2(SYNE1):c.1492G>T (p.Ala498Ser)
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg) rs746655221
NM_001365792.1(DAB1):c.122G>A (p.Arg41Gln)
NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr)
NM_001365792.1(DAB1):c.718G>C (p.Val240Leu)
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) rs867381855
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr) rs762930876
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
NM_001375883.1(GPR161):c.1502del (p.Gly501fs) rs766670512
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
NM_001376.4(DYNC1H1):c.-122C>T rs566619022
NM_001376.5(DYNC1H1):c.*194C>G rs566606862
NM_001376.5(DYNC1H1):c.*70T>C rs1047475161
NM_001376.5(DYNC1H1):c.-90C>T rs1256118131
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=) rs886050371
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=) rs886050373
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=) rs886050374
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly) rs2048578052
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg) rs886050375
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=) rs567247522
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln) rs2048621150
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=) rs777166781
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr) rs886050376
NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala) rs1555412625
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=) rs961375016
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val) rs1391196036
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His) rs2048072049
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro) rs2048126886
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=) rs1595609824
NM_001376.5(DYNC1H1):c.5049+15G>A rs975753572
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=) rs2048192586
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=) rs898083162
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) rs775274723
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr) rs2048317566
NM_001376.5(DYNC1H1):c.8177+12C>T rs367551573
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met) rs2048487270
NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro) rs1216716369
NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser) rs991657534
NM_001378452.1(ITPR1):c.*1076TTCTT[1] rs886058653
NM_001378452.1(ITPR1):c.*1169_*1170insAA rs752544427
NM_001378452.1(ITPR1):c.*1169_*1170insAAA rs752544427
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1] rs1553771554
NM_001378452.1(ITPR1):c.*1183_*1184dup rs3079679
NM_001378452.1(ITPR1):c.*1184del rs3079679
NM_001378452.1(ITPR1):c.*1266G>A rs886058655
NM_001378452.1(ITPR1):c.*13A>T rs886058644
NM_001378452.1(ITPR1):c.*312G>A rs886058646
NM_001378452.1(ITPR1):c.*472T>G rs2051804981
NM_001378452.1(ITPR1):c.*539_*540dup rs886058648
NM_001378452.1(ITPR1):c.*549G>T rs781519977
NM_001378452.1(ITPR1):c.*592T>G rs2051813316
NM_001378452.1(ITPR1):c.*668T>C rs886058649
NM_001378452.1(ITPR1):c.*879T>C rs1428879075
NM_001378452.1(ITPR1):c.*970C>A rs2051846001
NM_001378452.1(ITPR1):c.-103C>T rs750565307
NM_001378452.1(ITPR1):c.-143C>A rs886058524
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys) rs779003637
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro) rs1260045423
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln) rs2093820776
NM_001378452.1(ITPR1):c.1252-10T>A rs2125191741
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile) rs2093848251
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn) rs2093849179
NM_001378452.1(ITPR1):c.1412+6C>T rs2093850197
NM_001378452.1(ITPR1):c.1413-15G>A rs148675260
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=) rs886058612
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly) rs2093921786
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001378452.1(ITPR1):c.2204+14G>A rs529693973
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys) rs961418831
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val) rs111670385
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=) rs886058614
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=) rs541386070
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp) rs2093283649
NM_001378452.1(ITPR1):c.366+15C>T rs145989158
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser) rs1159285250
NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val) rs955458642
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=) rs2094513887
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe) rs762136714
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser) rs886058615
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His) rs561526280
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=) rs2082182114
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=) rs2041390618
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) rs2291864
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=) rs774018521
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=) rs776891199
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg) rs2125373123
NM_001378452.1(ITPR1):c.5725+15G>A rs2045841537
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=) rs1157485528
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser) rs1360324926
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val) rs2046693194
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn) rs886058620
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)
NM_001378452.1(ITPR1):c.7562-11C>T rs368532017
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7677T>C (p.Asp2559=) rs886058626
NM_001378452.1(ITPR1):c.7766T>C (p.Val2589Ala) rs2049205080
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=) rs775463557
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=) rs2050964614
NM_001378615.1(CC2D2A):c.-178T>C rs886059135
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001378615.1(CC2D2A):c.2486+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val) rs376403848
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr) rs1719718448
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3398+13T>C rs886059183
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) rs1720848250
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn) rs1407804611
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=) rs1721486758
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) rs1716561509
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile) rs965641511
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu)
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp) rs867628133
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro) rs1675021542
NM_001378969.1(KCND3):c.1269+6C>T rs1060502174
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro)
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu) rs771703569
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys) rs756087542
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp) rs1571626928
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)
NM_001378969.1(KCND3):c.1351A>C (p.Asn451His)
NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser)
NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala)
NM_001378969.1(KCND3):c.1371+4G>C
NM_001378969.1(KCND3):c.1371+5G>T rs1178012198
NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser)
NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys)
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys) rs1571626257
NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile)
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val) rs2101469294
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn)
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys) rs976664434
NM_001378969.1(KCND3):c.1518+4T>C rs1553235925
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala) rs1664166577
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr)
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg) rs1338355211
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) rs1447493103
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu) rs1553235768
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser) rs2101456436
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr) rs1553235743
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys) rs1420542041
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly) rs2101456005
NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val) rs778053688
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys) rs903701604
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp) rs1483036958
NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr)
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser) rs2101452061
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys) rs1435444967
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu) rs1261735013
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe) rs754759010
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr) rs1557929628
NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr)
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly) rs754042199
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln) rs1571941606
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala) rs1675001550
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp) rs575658111
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly) rs1217571134
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn) rs1488410733
NM_001378969.1(KCND3):c.478A>G (p.Met160Val) rs901416743
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu)
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala) rs2101997398
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser)
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu)
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val)
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu) rs2101996463
NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser)
NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg) rs2101995994
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr) rs1675024873
NM_001378969.1(KCND3):c.878G>A (p.Arg293His) rs1674965278
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp) rs2101995501
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser) rs1403997481
NM_001378969.1(KCND3):c.930G>A (p.Leu310=) rs577883061
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) rs764952763
NM_001382391.1(CSPP1):c.-104A>G
NM_001382391.1(CSPP1):c.-104A>T rs1805077545
NM_001382391.1(CSPP1):c.-108C>T rs2129538420
NM_001382391.1(CSPP1):c.-125C>A
NM_001382391.1(CSPP1):c.-128C>T rs775895663
NM_001382391.1(CSPP1):c.-138C>A rs373705126
NM_001382391.1(CSPP1):c.-138C>T
NM_001382391.1(CSPP1):c.-142C>A rs1023702149
NM_001382391.1(CSPP1):c.-143T>A rs1164437313
NM_001382391.1(CSPP1):c.-147C>G
NM_001382391.1(CSPP1):c.-149T>A rs768356971
NM_001382391.1(CSPP1):c.-149T>G
NM_001382391.1(CSPP1):c.-150A>T
NM_001382391.1(CSPP1):c.-47A>G
NM_001382391.1(CSPP1):c.-57C>G
NM_001382391.1(CSPP1):c.-66G>A rs2129538438
NM_001382391.1(CSPP1):c.-68G>A rs2129538437
NM_001382391.1(CSPP1):c.-68G>C
NM_001382391.1(CSPP1):c.-74G>A
NM_001382391.1(CSPP1):c.-80C>G rs745897839
NM_001382391.1(CSPP1):c.-90C>T
NM_001382391.1(CSPP1):c.-96C>G rs751458139
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
NM_001382391.1(CSPP1):c.1023-3T>C
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr) rs2129547771
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys) rs1815423493
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe) rs1807945498
NM_001382391.1(CSPP1):c.1093+3A>G rs1815432822
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly) rs2129549763
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) rs768714635
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys) rs748162424
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly) rs1816951976
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro) rs760205035
NM_001382391.1(CSPP1):c.1188-3T>C
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val) rs2129550393
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser) rs370123119
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser) rs201880658
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala) rs2129550845
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val) rs2129550849
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser) rs2129550850
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro) rs747312980
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu) rs376880257
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg) rs2129550870
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu) rs767353646
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp) rs2129550877
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe) rs1818329945
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys) rs2129551362
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile) rs2129551363
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys) rs766545455
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu) rs772097768
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro) rs369723292
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg) rs369723292
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr) rs1028530380
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn) rs2129551469
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu) rs2129551479
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys) rs375847469
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) rs2129554180
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met) rs2129554181
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del) rs1821332797
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln) rs771386855
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys) rs2129555264
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly) rs767674652
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr) rs752873157
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro) rs2129555267
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu) rs2129541315
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp) rs1807963359
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn) rs1822601037
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp) rs923561338
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser) rs1822608915
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val) rs2129555283
NM_001382391.1(CSPP1):c.1975+5G>A
NM_001382391.1(CSPP1):c.1975+6T>C
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg) rs766230896
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr) rs1226391179
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu) rs761009916
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu) rs764240953
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro) rs2129558004
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser) rs2129558011
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu) rs1825359470
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
NM_001382391.1(CSPP1):c.2129-16A>G rs1826203961
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val) rs780885390
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly) rs778822396
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu) rs201974031
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser) rs2129559050
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe) rs2129559060
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys) rs2129559063
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys) rs1826224959
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro) rs769971911
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu) rs2129559079
NM_001382391.1(CSPP1):c.2241+9C>G rs1826230466
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del) rs2129560139
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) rs1827120184
NM_001382391.1(CSPP1):c.2391+3A>T rs1338097590
NM_001382391.1(CSPP1):c.2391+4C>T
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val) rs2129560252
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del) rs773946059
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr) rs1283124706
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del) rs750079297
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu) rs752478502
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys) rs909732603
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser) rs1484918109
NM_001382391.1(CSPP1):c.2539-18A>G
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del) rs1828417560
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu) rs1828419474
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile) rs1828425319
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile) rs2129543528
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe) rs2129561809
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp) rs1828434498
NM_001382391.1(CSPP1):c.2643+4T>C
NM_001382391.1(CSPP1):c.2643+4T>G rs748730202
NM_001382391.1(CSPP1):c.2644-11T>G
NM_001382391.1(CSPP1):c.2644-14T>G rs2129562428
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg) rs779762140
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly) rs2129562479
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His) rs1828818248
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys) rs757750162
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met) rs374300498
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly) rs1586651470
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu) rs779579881
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp) rs367889164
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln) rs764280843
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys) rs776600422
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn) rs1182648944
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His) rs1402959828
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
NM_001382391.1(CSPP1):c.2828+2C>T rs1828946939
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala) rs770066826
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) rs770066826
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu) rs781283590
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg) rs1480057271
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly) rs1830675527
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=) rs2129567311
NM_001382391.1(CSPP1):c.2968+5G>A rs1057524684
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn) rs1830678644
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) rs993509179
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) rs750443075
NM_001382391.1(CSPP1):c.303+5T>C rs1332818013
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) rs374717800
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) rs374717800
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) rs1831355993
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
NM_001382391.1(CSPP1):c.3109+4dup rs2129568589
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
NM_001382391.1(CSPP1):c.3220+7A>G
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) rs774501418
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) rs754193806
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) rs749558548
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) rs1837019445
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) rs2129575962
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) rs569956227
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) rs2129575980
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) rs760082779
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) rs2129576630
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) rs1414800888
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) rs1837730212
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) rs776145236
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) rs1837735009
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) rs1563816165
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) rs1837760146
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) rs1026132903
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly) rs1554569071
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val) rs150924296
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
NM_001382391.1(CSPP1):c.483+6T>C
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala) rs2129545447
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) rs1308150996
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys) rs1477078769
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp) rs2129545466
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln) rs1807446261
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln) rs193231165
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His) rs777234205
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg) rs2129545496
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro) rs771943937
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp) rs763959523
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg) rs2129545507
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn) rs750608589
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr) rs750608589
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly) rs1353287068
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp) rs1812585066
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val) rs1812585556
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu) rs1812594373
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu) rs1812598635
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr) rs761539830
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys) rs1339310127
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr) rs1807452107
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala) rs1585833752
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys) rs2129545557
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) rs1313170509
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
NM_001382391.1(CSPP1):c.99+5A>G
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val) rs1479905045
NM_001386140.1(MTTP):c.*1003T>C rs796899519
NM_001386140.1(MTTP):c.*1044G>T rs886058965
NM_001386140.1(MTTP):c.*219G>A rs1358012798
NM_001386140.1(MTTP):c.*41A>G rs886058959
NM_001386140.1(MTTP):c.*434G>A rs1358561776
NM_001386140.1(MTTP):c.*454dup rs545365701
NM_001386140.1(MTTP):c.*474T>C rs960894922
NM_001386140.1(MTTP):c.*517A>T rs886058964
NM_001386140.1(MTTP):c.*55G>C rs192882987
NM_001386140.1(MTTP):c.*82G>A rs886058960
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile) rs2110230166
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr) rs1368249156
NM_001386140.1(MTTP):c.1769+12T>C rs767162951
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln) rs746293101
NM_001386140.1(MTTP):c.1868-6C>T rs772185759
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr) rs767606327
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=) rs1578257313
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala) rs780797954
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly) rs780797954
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys) rs1726222895
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=) rs1272679414
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp) rs2110239476
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val) rs1726272076
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser) rs867316992
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr) rs1724921174
NM_001386140.1(MTTP):c.543T>G (p.His181Gln) rs150319930
NM_001386140.1(MTTP):c.759G>A (p.Lys253=) rs1725509234
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser) rs1037319735
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) rs1001965936
NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)
NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile)
NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)
NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp)
NM_001447.3(FAT2):c.1521T>G (p.Ile507Met) rs1758328376
NM_001447.3(FAT2):c.1653del (p.Leu552fs)
NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg)
NM_001447.3(FAT2):c.5237T>C (p.Val1746Ala) rs765754012
NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val) rs1363769217
NM_001447.3(FAT2):c.9896C>T (p.Ser3299Phe) rs2127588750
NM_001510.4(GRID2):c.-62C>T
NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)
NM_001510.4(GRID2):c.1100G>A (p.Arg367His)
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr) rs1728640535
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly) rs752073311
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
NM_001510.4:c.1246-278_2193+35240del
NM_001510.4:c.790-271_1245+268del
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg) rs1376864427
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_001961.4(EEF2):c.1130C>T (p.Pro377Leu)
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile) rs2145360047
NM_001961.4(EEF2):c.1480A>T (p.Met494Leu)
NM_001961.4(EEF2):c.442del (p.Ala148fs)
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
NM_001961.4(EEF2):c.884A>T (p.Asp295Val)
NM_001961.4(EEF2):c.949_950delinsAG (p.Glu317Arg) rs2145362551
NM_002222.6(ITPR1):c.*1366C>T rs146958900
NM_002222.6(ITPR1):c.*1531G>A rs9817206
NM_002508.3(NID1):c.2129-2427_2405-658del
NM_002739.5(PRKCG):c.*39C>T rs776490487
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr) rs769292201
NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala)
NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val)
NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg)
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)
NM_002739.5(PRKCG):c.1764+8C>T rs756397908
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) rs868833808
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_002739.5(PRKCG):c.686+300C>G rs2068681112
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) rs1739849007
NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=) rs2083146343
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
NM_003383.5(VLDLR):c.*214C>T rs189180202
NM_003383.5(VLDLR):c.*351C>G rs1818497609
NM_003383.5(VLDLR):c.*45C>T rs920949909
NM_003383.5(VLDLR):c.*517G>C rs886063813
NM_003383.5(VLDLR):c.*98G>A rs543466401
NM_003383.5(VLDLR):c.-302T>C rs1007541973
NM_003383.5(VLDLR):c.-303C>G rs1816795166
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-99C>G rs1816811812
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu) rs144724569
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.1971C>T (p.Val657=) rs1039272492
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe) rs1818184738
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg) rs1454735635
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu) rs1818271045
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=) rs1300402424
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
NM_003383.5(VLDLR):c.449-112G>A
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
NM_003383.5(VLDLR):c.570G>C (p.Pro190=) rs116556362
NM_003383.5(VLDLR):c.711C>G (p.Thr237=) rs781637501
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
NM_003383.5(VLDLR):c.828A>C (p.Arg276=) rs777520243
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) rs886063808
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) rs886063809
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro) rs1817930978
NM_003640.5(ELP1):c.116A>G (p.His39Arg) rs2132052820
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr) rs571143526
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr) rs1388151143
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu) rs199555804
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe) rs1828805989
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile) rs1828721515
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) rs546587836
NM_003640.5(ELP1):c.2501+4T>G rs1405951778
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met) rs180931232
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu) rs1828328786
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser) rs1296107083
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln) rs367552387
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys) rs977172542
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser) rs750663365
NM_004115.4(FGF14):c.*101_*104del rs886049937
NM_004115.4(FGF14):c.*1199A>G rs372768269
NM_004115.4(FGF14):c.*1251G>A rs2034988925
NM_004115.4(FGF14):c.*1609_*1612del rs747506157
NM_004115.4(FGF14):c.*1761G>C rs886049931
NM_004115.4(FGF14):c.*1918T>C rs2034930325
NM_004115.4(FGF14):c.*1948C>T rs2034928409
NM_004115.4(FGF14):c.*369A>G rs2035058657
NM_004115.4(FGF14):c.*535G>T rs897525331
NM_004115.4(FGF14):c.*658T>G rs2035039616
NM_004115.4(FGF14):c.*699T>C rs2035036843
NM_004115.4(FGF14):c.*783C>G rs886049935
NM_004115.4(FGF14):c.*863G>C rs1211426419
NM_004115.4(FGF14):c.*919_*922dup rs768342824
NM_004115.4(FGF14):c.*971_*972dup rs34628929
NM_004115.4(FGF14):c.*972del rs34628929
NM_004115.4(FGF14):c.193+3C>T
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter) rs2035466147
NM_004115.4(FGF14):c.652G>T (p.Val218Phe) rs1432381387
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg) rs886049938
NM_004366.6(CLCN2):c.740G>T (p.Gly247Val) rs1553856477
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro) rs2123535291
NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp) rs2037143763
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly) rs1601098237
NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)
NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu) rs1284948650
NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg) rs368232448
NM_004977.3(KCNC3):c.1876G>T (p.Gly626Trp) rs368232448
NM_004977.3(KCNC3):c.1903G>A (p.Gly635Arg)
NM_004977.3(KCNC3):c.2014C>G (p.Leu672Val)
NM_004977.3(KCNC3):c.2143C>T (p.Pro715Ser)
NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3]) rs764571894
NM_004977.3(KCNC3):c.98C>G (p.Pro33Arg)
NM_005245.4(FAT1):c.5762G>T (p.Gly1921Val) rs2126519477
NM_005861.4(STUB1):c.134C>A (p.Ala45Glu) rs2151503733
NM_005861.4(STUB1):c.154G>A (p.Ala52Thr) rs2151503748
NM_005861.4(STUB1):c.346A>G (p.Asn116Asp) rs1456416134
NM_005861.4(STUB1):c.391T>C (p.Phe131Leu) rs2151504534
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)
NM_005861.4(STUB1):c.612+4_612+46del rs2151505435
NM_005861.4(STUB1):c.669+2T>C
NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)
NM_005861.4(STUB1):c.746G>T (p.Gly249Val) rs2151506587
NM_005861.4(STUB1):c.876_887del (p.Phe293_Glu296del)
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter) rs1376427129
NM_006237.4(POU4F1):c.445G>A (p.Gly149Ser)
NM_006289.4(TLN1):c.2176dup (p.Thr726fs)
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del) rs777476390
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)
NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg) rs2086850165
NM_006793.5(PRDX3):c.451G>A (p.Gly151Ser)
NM_006796.3(AFG3L2):c.-18A>G rs886053618
NM_006796.3(AFG3L2):c.-78C>A rs1909190689
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp) rs1168932758
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) rs375098002
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser) rs1908301962
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys)
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg) rs2143234608
NM_006796.3(AFG3L2):c.1664-5G>C rs886053615
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe) rs1907781566
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His) rs1908967089
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu) rs886053616
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val) rs866272063
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=) rs1908570292
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu) rs886053617
NM_006946.4(SPTBN2):c.1081G>A (p.Glu361Lys)
NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)
NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro) rs1590954146
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1472T>G (p.Leu491Arg)
NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly) rs371919862
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.185C>T (p.Thr62Ile)
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) rs1443491358
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=) rs748341964
NM_006946.4(SPTBN2):c.2191C>T (p.Arg731Trp)
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=) rs766115824
NM_006946.4(SPTBN2):c.254T>C (p.Leu85Pro)
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val) rs763021473
NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter) rs1402216317
NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=) rs886048551
NM_006946.4(SPTBN2):c.3777-3C>G
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln) rs886048552
NM_006946.4(SPTBN2):c.478T>C (p.Phe160Leu)
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) rs368373337
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=) rs886048549
NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup) rs1940534700
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val) rs1940531426
NM_006946.4(SPTBN2):c.571G>T (p.Ala191Ser)
NM_006946.4(SPTBN2):c.584A>G (p.Asn195Ser)
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp) rs886048547
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln) rs541138596
NM_006946.4(SPTBN2):c.6431C>T (p.Thr2144Ile) rs886048546
NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro) rs886048545
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln) rs1940196069
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
NM_006946.4(SPTBN2):c.7044del (p.Gly2348_Met2349insTer)
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser) rs1940076802
NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala) rs1940076270
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val) rs897181468
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_007289.4(MME):c.1946T>G (p.Ile649Ser) rs184666602
NM_012268.4(PLD3):c.602A>T (p.His201Leu)
NM_012268.4(PLD3):c.615G>A (p.Trp205Ter) rs2079032507
NM_013236.4(ATXN10):c.116+4A>T rs1160067775
NM_013236.4(ATXN10):c.1165C>T (p.Gln389Ter)
NM_014053.4(FLVCR1):c.*1021A>G rs551356467
NM_014053.4(FLVCR1):c.*1246T>C rs1665339009
NM_014053.4(FLVCR1):c.*1880TAAA[10] rs141272551
NM_014053.4(FLVCR1):c.*1880TAAA[9] rs141272551
NM_014053.4(FLVCR1):c.*1952C>A rs886045938
NM_014053.4(FLVCR1):c.*2061CA[11] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[20] rs139242973
NM_014053.4(FLVCR1):c.*2495C>T rs1665380437
NM_014053.4(FLVCR1):c.*2591G>C rs904043805
NM_014053.4(FLVCR1):c.*2672_*2673del rs557446640
NM_014053.4(FLVCR1):c.*2704T>G rs1665384723
NM_014053.4(FLVCR1):c.*2949G>A rs756936130
NM_014053.4(FLVCR1):c.*3127_*3128insGATA rs1553266731
NM_014053.4(FLVCR1):c.*3129A>T rs202125545
NM_014053.4(FLVCR1):c.*326T>C rs1665314385
NM_014053.4(FLVCR1):c.*3337G>C rs1665402320
NM_014053.4(FLVCR1):c.*3598G>C rs886045944
NM_014053.4(FLVCR1):c.*3756C>T rs1175866801
NM_014053.4(FLVCR1):c.*384T>C rs886045931
NM_014053.4(FLVCR1):c.*422G>A rs1665316878
NM_014053.4(FLVCR1):c.*740T>G rs1665325309
NM_014053.4(FLVCR1):c.*785C>T rs1665326608
NM_014053.4(FLVCR1):c.*838CT[2] rs549002753
NM_014053.4(FLVCR1):c.*847T>C rs1665329642
NM_014053.4(FLVCR1):c.*855del rs752835859
NM_014053.4(FLVCR1):c.*855dup rs752835859
NM_014053.4(FLVCR1):c.-154G>T rs554048351
NM_014053.4(FLVCR1):c.-166G>C rs1664078764
NM_014053.4(FLVCR1):c.-168C>G rs1572000804
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg) rs1665115556
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu) rs1665131014
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val) rs767746826
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=) rs534403116
NM_014053.4(FLVCR1):c.51G>C (p.Pro17=) rs886045924
NM_014053.4(FLVCR1):c.534G>C (p.Leu178=) rs886045925
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg) rs886045926
NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg)
NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr)
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala) rs1664320715
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu) rs886045927
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val) rs1294845921
NM_014363.6(SACS):c.*1039C>T rs1593117762
NM_014363.6(SACS):c.*1142G>A rs1883304820
NM_014363.6(SACS):c.*1162C>G rs1883303203
NM_014363.6(SACS):c.*1292A>T rs147476665
NM_014363.6(SACS):c.*716T>G rs1883326909
NM_014363.6(SACS):c.*919T>C rs1883315768
NM_014363.6(SACS):c.-502+2T>G rs1874525003
NM_014363.6(SACS):c.10011C>G (p.Ile3337Met) rs780642116
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His) rs1883623876
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) rs1555250217
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro) rs1883615724
NM_014363.6(SACS):c.10515A>C (p.Ser3505=) rs1883615412
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln) rs1883614344
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) rs1555250156
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) rs1883603870
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu) rs994425261
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro) rs150900362
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg) rs886050076
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg) rs1883577094
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del) rs2137570036
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile) rs1883575875
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala) rs2137566609
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
NM_014363.6(SACS):c.1173T>C (p.Ser391=) rs150683286
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)
NM_014363.6(SACS):c.11853A>G (p.Leu3951=) rs1883510768
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) rs1555249772
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn) rs1883504909
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu)
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr) rs1883497856
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=) rs1163399365
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) rs886050073
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) rs1555249469
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu) rs779668584
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del) rs764766520
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser) rs886050072
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu) rs775817492
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly) rs951437363
NM_014363.6(SACS):c.13320G>A (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) rs1555249236
NM_014363.6(SACS):c.13360del (p.Ala4454fs) rs1555249223
NM_014363.6(SACS):c.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser) rs757326594
NM_014363.6(SACS):c.13512A>G (p.Ala4504=) rs886050070
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys) rs2137547970
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) rs746704660
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe) rs1555254306
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1593C>G (p.Ile531Met) rs113756713
NM_014363.6(SACS):c.1627G>A (p.Val543Met) rs752705095
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del) rs764516069
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln) rs2137645971
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro) rs2137645971
NM_014363.6(SACS):c.2322A>G (p.Pro774=) rs1869225328
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.25G>A (p.Val9Ile) rs939705811
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile) rs2137641417
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys) rs139993038
NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del) rs1555252742
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu) rs1869134973
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr) rs764812936
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser) rs1202128043
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3429A>G (p.Gln1143=) rs1869096503
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) rs886050087
NM_014363.6(SACS):c.3615C>T (p.Ile1205=) rs886050086
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.3992A>G (p.His1331Arg) rs1869039514
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del) rs755941308
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) rs1555252463
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe) rs961377840
NM_014363.6(SACS):c.4268A>G (p.His1423Arg) rs2137629036
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr) rs2137627792
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) rs886050085
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.5043C>T (p.His1681=) rs1868915593
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis) rs1555252172
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr) rs758381112
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del) rs775922113
NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg) rs1868850876
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser) rs1868847058
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu) rs1329947939
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) rs141019064
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp) rs2137615220
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) rs1555251980
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr) rs2137613081
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val) rs758895050
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly) rs1234193312
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr) rs2137612456
NM_014363.6(SACS):c.6231_6233del (p.Met2077del) rs1555251880
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val) rs886050084
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys) rs1555251719
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg) rs1044714793
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu) rs886050083
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) rs1555251695
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg) rs1190128123
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) rs886050082
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) rs1555251650
NM_014363.6(SACS):c.6844T>C (p.Leu2282=) rs1868678889
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del) rs1555251633
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr) rs1868664491
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp) rs1868637796
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys) rs2137600321
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) rs1555251416
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser) rs777424692
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) rs1467848128
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp) rs2137599038
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn) rs750491874
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly) rs1868573738
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7795G>C (p.Asp2599His) rs1868563918
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7857T>C (p.Thr2619=) rs886050081
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.827G>A (p.Arg276His)
NM_014363.6(SACS):c.8341C>G (p.His2781Asp) rs886050080
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly) rs1868466055
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala) rs1566062448
NM_014363.6(SACS):c.8802C>T (p.Phe2934=) rs1868452276
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr) rs1868444121
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala) rs2137587151
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) rs1388341388
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile) rs1883687760
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly) rs1883670937
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del) rs1293576848
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) rs762506287
NM_014363.6(SACS):c.9912C>T (p.Leu3304=) rs1593124372
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) rs746252249
NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala) rs1451522942
NM_014687.4(RUBCN):c.1262-1G>C
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
NM_014687.4(RUBCN):c.1474-5G>T
NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)
NM_014687.4(RUBCN):c.2537A>G (p.Asp846Gly) rs2108833855
NM_014889.4(PITRM1):c.1634G>A (p.Arg545Gln)
NM_015046.5(SETX):c.-190G>A rs1055615359
NM_015046.7(SETX):c.*1050A>C rs1842477894
NM_015046.7(SETX):c.*1148T>C rs138991890
NM_015046.7(SETX):c.*1233A>G rs1388263414
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1487A>G rs1842460355
NM_015046.7(SETX):c.*1494A>G rs1327797847
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1987T>C rs1589593075
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T rs552487555
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_015046.7(SETX):c.*2576_*2577del rs886063544
NM_015046.7(SETX):c.*2639T>C rs886063543
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.*2753G>A rs886063542
NM_015046.7(SETX):c.*608G>C rs528924481
NM_015046.7(SETX):c.-154G>C rs886063561
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) rs1554821963
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser) rs2131461800
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr) rs754200234
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
NM_015046.7(SETX):c.14G>C (p.Cys5Ser) rs1589791895
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
NM_015046.7(SETX):c.156T>C (p.Asp52=) rs1848476611
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) rs2131460183
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp) rs1847120441
NM_015046.7(SETX):c.173A>G (p.His58Arg)
NM_015046.7(SETX):c.177+6A>G rs2131575018
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) rs143340285
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) rs998278975
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys) rs1339144218
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) rs1339144218
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly) rs2131454695
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) rs1554821462
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu) rs2131453786
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) rs1554821445
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
NM_015046.7(SETX):c.2516A>T (p.His839Leu) rs1847047743
NM_015046.7(SETX):c.2517C>T (p.His839=) rs1464623855
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg) rs774820992
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu) rs2131450530
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn) rs1258279869
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) rs1847007637
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val) rs931570379
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser) rs1564542121
NM_015046.7(SETX):c.3265G>A (p.Val1089Met) rs917637229
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp) rs1278965355
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala) rs866546546
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr) rs1846954116
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala) rs1846942479
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe) rs2131440671
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) rs1467137301
NM_015046.7(SETX):c.3737A>C (p.His1246Pro) rs2131440106
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del) rs2131439346
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
NM_015046.7(SETX):c.388+8T>G
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) rs766625711
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys) rs199974622
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) rs1554820219
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys) rs2131431252
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) rs1554820196
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr) rs781383567
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser) rs1846817047
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu) rs1846757741
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu) rs2131306081
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro) rs1844774142
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) rs1443102808
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) rs1844714133
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr) rs1844713785
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser) rs1403263153
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) rs1847622210
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) rs1847622037
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
NM_015046.7(SETX):c.5949+4_5949+7del rs1844702677
NM_015046.7(SETX):c.5949G>A (p.Glu1983=) rs2131289331
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser) rs2131284986
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_015046.7(SETX):c.6106+8A>G rs1314479594
NM_015046.7(SETX):c.6107-3C>T
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys) rs762479596
NM_015046.7(SETX):c.617A>C (p.Glu206Ala) rs759880306
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) rs2131247894
NM_015046.7(SETX):c.6209-12T>G
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
NM_015046.7(SETX):c.6324+5C>G
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val) rs1589647043
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly) rs957607977
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) rs1387036733
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) rs756600708
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys) rs1843647719
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu) rs1843510567
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala) rs1843502057
NM_015046.7(SETX):c.6654+5G>A rs1843497922
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) rs774068411
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys) rs2131182464
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu) rs1843274414
NM_015046.7(SETX):c.6808A>C (p.Asn2270His) rs1843272035
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala) rs1843271572
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del)
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7100+7C>T
NM_015046.7(SETX):c.7101-16T>C
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp) rs2131148064
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe) rs150489999
NM_015046.7(SETX):c.7200-3T>C
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
NM_015046.7(SETX):c.727A>G (p.Met243Val)
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) rs1564464665
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
NM_015046.7(SETX):c.7370A>G (p.His2457Arg) rs753051382
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) rs1182285610
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) rs1847481832
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
NM_015046.7(SETX):c.7427C>A (p.Pro2476His) rs767515528
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) rs771027936
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys) rs2131114345
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) rs1564464193
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7530C>G (p.His2510Gln) rs1303389955
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) rs557347174
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys) rs2131113325
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp) rs2131113303
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg) rs2131113093
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter) rs1039417117
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) rs1842546596
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly) rs2131112014
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) rs1842537896
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer) rs2131111712
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr) rs979454428
NM_015046.7(SETX):c.784A>G (p.Lys262Glu) rs2131492208
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) rs778362262
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.7984del (p.Arg2662fs) rs2131109788
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) rs749325764
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) rs901741485
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
NM_015046.7(SETX):c.988C>T (p.His330Tyr) rs1847220041
NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe) rs2131591617
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro) rs769031961
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)
NM_015160.3(PMPCA):c.634-266T>G rs755207442
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)
NM_015160.3(PMPCA):c.71+3G>A
NM_015160.3(PMPCA):c.897+6G>A rs150776126
NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)
NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn) rs2095980355
NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile) rs879255532
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp) rs1557636777
NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg) rs2095989201
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly) rs765488241
NM_015215.4(CAMTA1):c.2585G>C (p.Gly862Ala)
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)
NM_015215.4(CAMTA1):c.2779+5G>A rs2149222075
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala) rs2096135808
NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val)
NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)
NM_015215.4(CAMTA1):c.2981C>G (p.Thr994Arg)
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val) rs1577305812
NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)
NM_015215.4(CAMTA1):c.363del (p.Tyr122fs) rs2149302921
NM_015215.4(CAMTA1):c.3862A>G (p.Ser1288Gly)
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile) rs1435279555
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) rs2096866595
NM_015215.4(CAMTA1):c.4622G>T (p.Arg1541Leu)
NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)
NM_015215.4(CAMTA1):c.4990-3503A>C rs2150309041
NM_015215.4(CAMTA1):c.511-22_511-19del rs2095751767
NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)
NM_015215.4(CAMTA1):c.699C>G (p.Asn233Lys)
NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val) rs2149152505
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His) rs767725186
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*125G>T rs868861934
NM_015272.5(RPGRIP1L):c.*133T>A rs1963396187
NM_015272.5(RPGRIP1L):c.*159T>G rs1963395143
NM_015272.5(RPGRIP1L):c.*1645A>T rs144554139
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*846A>T rs1963365021
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.-16A>G rs909461672
NM_015272.5(RPGRIP1L):c.-8G>T rs1020579838
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly) rs565245381
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg) rs181526554
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp) rs1967370164
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu) rs1029054579
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu) rs976110882
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=) rs1967363312
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr) rs2151128525
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys) rs981992752
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584
NM_015289.5(VPS39):c.442-2A>G
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val) rs772644485
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu) rs1644798894
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser) rs151332868
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met) rs1436479178
NM_015378.4(VPS13D):c.4451-16A>G rs768036528
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg) rs779567569
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu) rs201376188
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg) rs868755481
NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met) rs1232333514
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu) rs750000898
NM_016169.3(SUFU):c.-189C>T rs1589969363
NM_016169.3(SUFU):c.-202C>T rs1222242003
NM_016169.4(SUFU):c.*1104C>T rs886046657
NM_016169.4(SUFU):c.*131C>G rs886046654
NM_016169.4(SUFU):c.*1389C>T rs886046658
NM_016169.4(SUFU):c.*138C>T rs2063826618
NM_016169.4(SUFU):c.*1690A>G rs955282121
NM_016169.4(SUFU):c.*1720C>G rs536068954
NM_016169.4(SUFU):c.*1785C>T rs1047091410
NM_016169.4(SUFU):c.*1889C>T rs139020703
NM_016169.4(SUFU):c.*2479C>T rs2063847339
NM_016169.4(SUFU):c.*2553T>C rs886046662
NM_016169.4(SUFU):c.*2657T>C rs2063848688
NM_016169.4(SUFU):c.*2757G>A rs758662176
NM_016169.4(SUFU):c.*3110C>T rs141940845
NM_016169.4(SUFU):c.*3239C>G rs538132960
NM_016169.4(SUFU):c.*3239_*3241del rs767259911
NM_016169.4(SUFU):c.*352C>G rs139725961
NM_016169.4(SUFU):c.-103C>A rs886046653
NM_016169.4(SUFU):c.-163A>G rs886046652
NM_016169.4(SUFU):c.-181A>G rs867202826
NM_016169.4(SUFU):c.-81C>A rs546107381
NM_016169.4(SUFU):c.-81C>T rs546107381
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro) rs2063496437
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn) rs145082320
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr) rs145082320
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro) rs369910221
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala) rs2063496822
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile)
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu) rs79299301
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly) rs1590082122
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys) rs1447671524
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr) rs1419645738
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
NM_016169.4(SUFU):c.104A>G (p.His35Arg) rs2062292023
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
NM_016169.4(SUFU):c.1057A>T (p.Thr353Ser) rs1043574191
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr) rs1554854570
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly) rs1554854572
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val) rs1564706425
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe) rs1564706425
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met) rs2063673886
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met) rs1590082200
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu) rs755390277
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala) rs2135930147
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro) rs2063674539
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg) rs746580970
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu) rs149449923
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala) rs1554854584
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp) rs2063674917
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr) rs1265012285
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg) rs1256959985
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
NM_016169.4(SUFU):c.1139T>A (p.Leu380His) rs2063675268
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys) rs2062292284
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr) rs2135930458
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu) rs1401882800
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg) rs375419295
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
NM_016169.4(SUFU):c.1158-3C>T rs936830108
NM_016169.4(SUFU):c.1159G>A (p.Gly387Ser)
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
NM_016169.4(SUFU):c.116G>T (p.Gly39Val) rs756123785
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
NM_016169.4(SUFU):c.1172A>G (p.His391Arg) rs2063696863
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg) rs2063696912
NM_016169.4(SUFU):c.1174_1175dup (p.Arg393fs) rs1564707343
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn) rs1421345157
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr) rs1421345157
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile) rs776868943
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp) rs2063697237
NM_016169.4(SUFU):c.1210A>G (p.Met404Val) rs1312190379
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys) rs2063697367
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val) rs1060501116
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu) rs1590084228
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp) rs2135935261
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr) rs779490664
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser) rs779490664
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp) rs2063698018
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro) rs2063698088
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
NM_016169.4(SUFU):c.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg) rs1590084270
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val) rs1427876079
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr) rs1189930416
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val) rs772895878
NM_016169.4(SUFU):c.1291T>G (p.Leu431Val) rs141950577
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
NM_016169.4(SUFU):c.1296+10C>T
NM_016169.4(SUFU):c.1296+3G>A rs2135935586
NM_016169.4(SUFU):c.1296+4_1296+459del rs2063698594
NM_016169.4(SUFU):c.1296+5G>A
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
NM_016169.4(SUFU):c.1312del (p.Glu438fs) rs2135954200
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser) rs778975698
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala) rs2135954241
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val) rs2063793808
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile) rs773805575
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe) rs2135954289
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn) rs2135954318
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val) rs2135954327
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys) rs2135954335
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu) rs1564711403
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe) rs774611157
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe) rs2135954349
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr) rs2135954353
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
NM_016169.4(SUFU):c.1365+6C>T
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg) rs947720538
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser) rs2063824067
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu) rs2135598488
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn) rs2062292973
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe) rs1590094982
NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn) rs1318484622
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs) rs1324912821
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg) rs765358771
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro) rs1060501115
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr) rs2135959641
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del) rs2063824850
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser) rs2062293449
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr) rs2135598653
NM_016169.4(SUFU):c.155T>A (p.Leu52His) rs2135598661
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg) rs1589970174
NM_016169.4(SUFU):c.160G>A (p.Val54Ile) rs2135598727
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser) rs2062288467
NM_016169.4(SUFU):c.171C>G (p.Ile57Met) rs1283661186
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
NM_016169.4(SUFU):c.172G>C (p.Val58Leu) rs766897671
NM_016169.4(SUFU):c.173T>A (p.Val58Asp) rs2135598841
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg) rs2135597134
NM_016169.4(SUFU):c.182+3A>G rs1589970228
NM_016169.4(SUFU):c.182+4T>C rs1268149623
NM_016169.4(SUFU):c.182+6C>T rs889720087
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly) rs2062288510
NM_016169.4(SUFU):c.200C>G (p.Pro67Arg) rs1564656995
NM_016169.4(SUFU):c.202T>G (p.Leu68Val) rs1589975244
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn) rs1589975269
NM_016169.4(SUFU):c.217A>T (p.Met73Leu) rs1183694060
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg) rs2135597167
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys) rs769696737
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu) rs2062368710
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr) rs2135620312
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys) rs2062368817
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
NM_016169.4(SUFU):c.247A>C (p.Asn83His) rs2135620366
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp) rs2135620366
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala) rs1187640052
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser) rs1187640052
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
NM_016169.4(SUFU):c.271A>G (p.Ile91Val) rs759030707
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn) rs781318691
NM_016169.4(SUFU):c.273C>G (p.Ile91Met) rs2062369595
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly) rs2062369652
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg) rs1060501106
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu) rs770218907
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr) rs2135620752
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser) rs975936230
NM_016169.4(SUFU):c.295T>C (p.Tyr99His) rs2062370032
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser) rs146181245
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln) rs1040654062
NM_016169.4(SUFU):c.317+5G>T rs2062370553
NM_016169.4(SUFU):c.317A>G (p.Glu106Gly)
NM_016169.4(SUFU):c.318-3C>T
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp) rs1227379293
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu) rs2062895698
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn) rs781192849
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala) rs1564676348
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu) rs2062895967
NM_016169.4(SUFU):c.358T>G (p.Leu120Val) rs1415947980
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu) rs1216193400
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys) rs1280071055
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser) rs2135743325
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser) rs1564676427
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe) rs1060501111
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg) rs2135743469
NM_016169.4(SUFU):c.429C>T (p.Gly143=) rs2062896951
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1]) rs2062289607
NM_016169.4(SUFU):c.430T>G (p.Leu144Val) rs2135743501
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala) rs761921681
NM_016169.4(SUFU):c.442G>A (p.Val148Met) rs763813479
NM_016169.4(SUFU):c.442G>T (p.Val148Leu) rs763813479
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
NM_016169.4(SUFU):c.454+4_454+5del
NM_016169.4(SUFU):c.454+6A>T rs2062897274
NM_016169.4(SUFU):c.454+6_454+8del rs2135743623
NM_016169.4(SUFU):c.455-10T>A
NM_016169.4(SUFU):c.460A>G (p.Thr154Ala)
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys) rs2063414949
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg) rs1554852266
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly) rs2063415039
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr) rs978312925
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)
NM_016169.4(SUFU):c.490C>T (p.His164Tyr) rs2063415325
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile) rs587778697
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn) rs2063415661
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr) rs2063415661
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1]) rs1426839991
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn) rs2135867046
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu) rs2063416132
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro) rs2063416174
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)
NM_016169.4(SUFU):c.563T>C (p.Val188Ala) rs2063416415
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp) rs1589969913
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro) rs2135867363
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala) rs2135867363
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile) rs2063416715
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
NM_016169.4(SUFU):c.597+15G>A
NM_016169.4(SUFU):c.597G>A (p.Gln199=) rs1060501112
NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
NM_016169.4(SUFU):c.600C>G (p.Ile200Met) rs149513330
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile) rs1478836560
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys) rs1590062858
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
NM_016169.4(SUFU):c.626A>C (p.His209Pro) rs1590062872
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg) rs2063428727
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys) rs551772204
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg) rs2063429038
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp) rs761240106
NM_016169.4(SUFU):c.65C>T (p.Ala22Val) rs761240106
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
NM_016169.4(SUFU):c.664C>G (p.Leu222Val) rs765345575
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp) rs1590062935
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser) rs2063429642
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg) rs1432427138
NM_016169.4(SUFU):c.677T>C (p.Val226Ala) rs895181370
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala) rs766666529
NM_016169.4(SUFU):c.683+7A>T
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly) rs1590063307
NM_016169.4(SUFU):c.686C>T (p.Ala229Val) rs1590063307
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser) rs1060501110
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu) rs1240436102
NM_016169.4(SUFU):c.696C>G (p.Pro232=) rs2063434189
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg) rs1590063333
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr)
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala) rs1219870817
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser) rs1219870817
NM_016169.4(SUFU):c.712A>G (p.Met238Val) rs2063434374
NM_016169.4(SUFU):c.713T>C (p.Met238Thr) rs2063434396
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly) rs369465986
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp) rs369465986
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln) rs754218597
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu)
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser) rs762294261
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr) rs2063435042
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser) rs1303650670
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr) rs2135597901
NM_016169.4(SUFU):c.741C>G (p.Ile247Met) rs2135872473
NM_016169.4(SUFU):c.742G>C (p.Asp248His) rs1283509771
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly) rs2135872517
NM_016169.4(SUFU):c.748C>T (p.His250Tyr) rs2135872528
NM_016169.4(SUFU):c.749A>G (p.His250Arg) rs750808785
NM_016169.4(SUFU):c.74C>T (p.Ala25Val) rs2062291323
NM_016169.4(SUFU):c.753_756+2dup rs2063435496
NM_016169.4(SUFU):c.756+10G>T
NM_016169.4(SUFU):c.756A>C (p.Gln252His) rs1317467424
NM_016169.4(SUFU):c.757-5A>G rs1590065871
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly) rs2135881068
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr) rs2135881076
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
NM_016169.4(SUFU):c.777C>G (p.Ile259Met) rs749533220
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln) rs775245784
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro) rs2063471103
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile) rs2135881195
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr) rs2062291537
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
NM_016169.4(SUFU):c.80C>T (p.Ala27Val) rs1664857380
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg) rs2063471312
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg) rs2063471403
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
NM_016169.4(SUFU):c.827A>T (p.Asp276Val) rs772598822
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala)
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn) rs1486885056
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg) rs1564698718
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr) rs2063471841
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser) rs2063471841
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala) rs1215810497
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys) rs1554852789
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln) rs1554852789
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup) rs2135881773
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu) rs200206997
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp) rs1007675139
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn) rs750436246
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys) rs2135881950
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly) rs755961394
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp) rs755961394
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly) rs1406131774
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn) rs749461207
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg) rs2062291773
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr) rs193921097
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe) rs193921097
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn) rs1487599100
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp) rs761234425
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg) rs2135882221
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu) rs1590066137
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln) rs1197687313
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly) rs757097388
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys) rs1554852823
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe) rs1554852823
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
NM_016169.4(SUFU):c.910+4G>A rs1060501104
NM_016169.4(SUFU):c.910+5G>A rs2135882479
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala) rs1590067989
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser) rs1590067989
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr) rs1554840836
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala) rs1554840836
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser) rs1554840836
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln) rs376797758
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu) rs2135598089
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys) rs369741612
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu) rs2135888649
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe) rs1554853004
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del) rs2063495678
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser) rs1479527039
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn) rs753862598
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr) rs753862598
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu) rs2135598107
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg) rs754716152
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
NM_016169.4(SUFU):c.965C>A (p.Pro322His) rs2135888788
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe) rs2063495996
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu) rs2135888846
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser) rs2135888901
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala) rs2063496120
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg) rs1060501107
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser) rs2083259164
NM_016373.4(WWOX):c.1003T>A (p.Trp335Arg)
NM_016373.4(WWOX):c.1015A>C (p.Thr339Pro) rs1429449710
NM_016373.4(WWOX):c.1016C>T (p.Thr339Ile)
NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys) rs766309882
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala) rs200699154
NM_016373.4(WWOX):c.1048A>G (p.Lys350Glu) rs2151386361
NM_016373.4(WWOX):c.1051T>C (p.Ser351Pro) rs1266850996
NM_016373.4(WWOX):c.1052C>T (p.Ser351Phe)
NM_016373.4(WWOX):c.1055T>C (p.Met352Thr)
NM_016373.4(WWOX):c.1057-2A>G rs1233583078
NM_016373.4(WWOX):c.1057-3C>T rs143302415
NM_016373.4(WWOX):c.1059A>C (p.Gln353His)
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro) rs1567624901
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser) rs1555547940
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile) rs1555547940
NM_016373.4(WWOX):c.107A>T (p.Asn36Ile) rs1316489119
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg) rs2051754918
NM_016373.4(WWOX):c.109C>G (p.His37Asp) rs770653451
NM_016373.4(WWOX):c.10C>G (p.Leu4Val) rs751733610
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp) rs780816542
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu) rs1064793798
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg) rs1400576596
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val) rs769877812
NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys) rs377129275
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys) rs2051758116
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys) rs201088847
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser) rs200461412
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro) rs202002431
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu) rs202002431
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr) rs1567625134
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg) rs2051759512
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu) rs1351213477
NM_016373.4(WWOX):c.115GAG[1] (p.Glu40del) rs1301923654
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro) rs1060502729
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) rs1484856529
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys) rs375757102
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln) rs375757102
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val) rs1287638259
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp) rs763482100
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs) rs1064792969
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr) rs767286260
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly) rs750042007
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys) rs200839945
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln) rs200839945
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu) rs1197462916
NM_016373.4(WWOX):c.1218A>C (p.Gln406His) rs767985798
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser)
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly) rs144234059
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu) rs765857107
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del) rs770788315
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys) rs117065412
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del) rs2051765287
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser) rs2150868322
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)
NM_016373.4(WWOX):c.128A>G (p.Gln43Arg) rs754384834
NM_016373.4(WWOX):c.146C>G (p.Thr49Ser)
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg) rs2032292763
NM_016373.4(WWOX):c.15C>G (p.Arg5=) rs2031625331
NM_016373.4(WWOX):c.164T>G (p.Val55Gly) rs775944673
NM_016373.4(WWOX):c.173A>G (p.Asp58Gly) rs2032380473
NM_016373.4(WWOX):c.184G>C (p.Gly62Arg) rs775696083
NM_016373.4(WWOX):c.200C>G (p.Thr67Ser) rs752003995
NM_016373.4(WWOX):c.202G>T (p.Asp68Tyr) rs2032382985
NM_016373.4(WWOX):c.203A>G (p.Asp68Gly) rs1567575033
NM_016373.4(WWOX):c.230+3A>T rs746149234
NM_016373.4(WWOX):c.230+6T>C
NM_016373.4(WWOX):c.230A>G (p.Asp77Gly) rs2032385595
NM_016373.4(WWOX):c.231-5G>A
NM_016373.4(WWOX):c.233A>G (p.His78Arg) rs375002918
NM_016373.4(WWOX):c.248C>T (p.Thr83Ile) rs751493396
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp) rs781063964
NM_016373.4(WWOX):c.261C>G (p.Asp87Glu) rs368902462
NM_016373.4(WWOX):c.262C>A (p.Pro88Thr)
NM_016373.4(WWOX):c.263C>G (p.Pro88Arg) rs200371768
NM_016373.4(WWOX):c.266G>A (p.Arg89Lys) rs2151674621
NM_016373.4(WWOX):c.272C>T (p.Ala91Val)
NM_016373.4(WWOX):c.287A>T (p.Asp96Val) rs776969977
NM_016373.4(WWOX):c.301C>T (p.Pro101Ser) rs574637594
NM_016373.4(WWOX):c.305C>T (p.Thr102Ile) rs2032705453
NM_016373.4(WWOX):c.310C>T (p.Arg104Trp) rs750226191
NM_016373.4(WWOX):c.319T>G (p.Tyr107Asp) rs2151674746
NM_016373.4(WWOX):c.324C>A (p.Asp108Glu) rs377442022
NM_016373.4(WWOX):c.32A>T (p.Asp11Val) rs1597189624
NM_016373.4(WWOX):c.332C>T (p.Thr111Ile) rs114755364
NM_016373.4(WWOX):c.340A>G (p.Met114Val) rs1402250109
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.349C>A (p.Leu117Ile) rs1397160477
NM_016373.4(WWOX):c.353A>G (p.Gln118Arg) rs752982374
NM_016373.4(WWOX):c.359G>A (p.Arg120Gln) rs1355355411
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_016373.4(WWOX):c.362A>G (p.Asp121Gly) rs576113059
NM_016373.4(WWOX):c.368C>T (p.Thr123Ile) rs2151674876
NM_016373.4(WWOX):c.374A>G (p.Lys125Arg)
NM_016373.4(WWOX):c.376G>C (p.Val126Leu) rs2151674893
NM_016373.4(WWOX):c.389C>G (p.Thr130Ser)
NM_016373.4(WWOX):c.391G>A (p.Gly131Arg) rs2151674915
NM_016373.4(WWOX):c.397A>T (p.Asn133Tyr)
NM_016373.4(WWOX):c.408A>G (p.Ile136Met)
NM_016373.4(WWOX):c.409+4G>A rs2032715333
NM_016373.4(WWOX):c.409+6C>T
NM_016373.4(WWOX):c.410-6C>G rs1488901499
NM_016373.4(WWOX):c.410G>C (p.Gly137Ala) rs761879076
NM_016373.4(WWOX):c.415G>C (p.Glu139Gln) rs764089824
NM_016373.4(WWOX):c.422C>T (p.Ala141Val) rs990349398
NM_016373.4(WWOX):c.440A>C (p.His147Pro) rs188859796
NM_016373.4(WWOX):c.446C>G (p.Ala149Gly) rs1024835941
NM_016373.4(WWOX):c.446C>T (p.Ala149Val) rs1024835941
NM_016373.4(WWOX):c.449A>T (p.His150Leu)
NM_016373.4(WWOX):c.454A>G (p.Ile152Val) rs961514796
NM_016373.4(WWOX):c.45G>T (p.Glu15Asp) rs770319919
NM_016373.4(WWOX):c.490G>A (p.Ala164Thr) rs2034896161
NM_016373.4(WWOX):c.513A>G (p.Glu171=) rs1060502728
NM_016373.4(WWOX):c.516+6_516+7inv
NM_016373.4(WWOX):c.517-108226G>T rs1057518676
NM_016373.4(WWOX):c.520A>G (p.Lys174Glu) rs766451936
NM_016373.4(WWOX):c.52C>A (p.Leu18Met) rs776553279
NM_016373.4(WWOX):c.52C>G (p.Leu18Val) rs776553279
NM_016373.4(WWOX):c.530T>C (p.Val177Ala) rs2151934103
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.545T>C (p.Leu182Pro) rs2082072058
NM_016373.4(WWOX):c.550C>T (p.Leu184Phe) rs753965511
NM_016373.4(WWOX):c.554C>T (p.Ala185Val)
NM_016373.4(WWOX):c.556C>G (p.Leu186Val) rs772539448
NM_016373.4(WWOX):c.560T>A (p.Leu187His) rs2151934150
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_016373.4(WWOX):c.568G>C (p.Val190Leu)
NM_016373.4(WWOX):c.568G>T (p.Val190Leu) rs769400934
NM_016373.4(WWOX):c.584A>C (p.Glu195Ala) rs2151934166
NM_016373.4(WWOX):c.587C>T (p.Ala196Val) rs754102799
NM_016373.4(WWOX):c.592A>G (p.Lys198Glu) rs1199254958
NM_016373.4(WWOX):c.596C>G (p.Ala199Gly) rs890212192
NM_016373.4(WWOX):c.59C>G (p.Pro20Arg) rs761638116
NM_016373.4(WWOX):c.604G>A (p.Val202Met)
NM_016373.4(WWOX):c.605+6_605+18del rs775621555
NM_016373.4(WWOX):c.606G>C (p.Val202=) rs1232120355
NM_016373.4(WWOX):c.610C>A (p.Leu204Ile) rs866341813
NM_016373.4(WWOX):c.614A>G (p.His205Arg) rs770649734
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser) rs767929766
NM_016373.4(WWOX):c.638C>A (p.Thr213Asn) rs753602303
NM_016373.4(WWOX):c.640T>G (p.Phe214Val)
NM_016373.4(WWOX):c.641T>A (p.Phe214Tyr) rs1474238209
NM_016373.4(WWOX):c.650C>G (p.Pro217Arg) rs777579075
NM_016373.4(WWOX):c.650C>T (p.Pro217Leu)
NM_016373.4(WWOX):c.658C>T (p.Leu220Phe)
NM_016373.4(WWOX):c.668A>T (p.Asp223Val) rs1392246150
NM_016373.4(WWOX):c.66G>T (p.Trp22Cys) rs1231403909
NM_016373.4(WWOX):c.682A>C (p.Thr228Pro) rs1567565338
NM_016373.4(WWOX):c.683C>G (p.Thr228Ser) rs761250135
NM_016373.4(WWOX):c.683C>T (p.Thr228Ile) rs761250135
NM_016373.4(WWOX):c.688C>G (p.Gln230Glu) rs1057524749
NM_016373.4(WWOX):c.702G>A (p.Leu234=) rs2151959991
NM_016373.4(WWOX):c.711C>A (p.Phe237Leu) rs769589145
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu) rs769589145
NM_016373.4(WWOX):c.736G>A (p.Val246Ile) rs1262275069
NM_016373.4(WWOX):c.745C>A (p.Arg249Ser) rs749277249
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys) rs749277249
NM_016373.4(WWOX):c.757G>T (p.Ala253Ser) rs896783193
NM_016373.4(WWOX):c.758C>G (p.Ala253Gly) rs771068553
NM_016373.4(WWOX):c.761G>A (p.Arg254His)
NM_016373.4(WWOX):c.764T>C (p.Val255Ala)
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe) rs1023419687
NM_016373.4(WWOX):c.767T>C (p.Ile256Thr) rs775895501
NM_016373.4(WWOX):c.779C>T (p.Ser260Leu)
NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del) rs763124571
NM_016373.4(WWOX):c.782A>G (p.Glu261Gly) rs1464495960
NM_016373.4(WWOX):c.790C>G (p.Arg264Gly) rs756762196
NM_016373.4(WWOX):c.791+4G>C
NM_016373.4(WWOX):c.791G>A (p.Arg264Gln)
NM_016373.4(WWOX):c.792A>G (p.Arg264=)
NM_016373.4(WWOX):c.793T>A (p.Phe265Ile) rs2083245410
NM_016373.4(WWOX):c.7G>A (p.Ala3Thr) rs1336300148
NM_016373.4(WWOX):c.7G>T (p.Ala3Ser) rs1336300148
NM_016373.4(WWOX):c.800A>G (p.Asp267Gly)
NM_016373.4(WWOX):c.803T>A (p.Ile268Asn)
NM_016373.4(WWOX):c.827A>C (p.Asp276Ala) rs2083246915
NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)
NM_016373.4(WWOX):c.833G>A (p.Ser278Asn)
NM_016373.4(WWOX):c.838C>G (p.Leu280Val)
NM_016373.4(WWOX):c.842C>T (p.Ser281Phe) rs1567570252
NM_016373.4(WWOX):c.845C>A (p.Pro282Gln)
NM_016373.4(WWOX):c.845C>T (p.Pro282Leu) rs770542796
NM_016373.4(WWOX):c.847A>G (p.Thr283Ala) rs1037290766
NM_016373.4(WWOX):c.847A>T (p.Thr283Ser)
NM_016373.4(WWOX):c.856G>C (p.Asp286His) rs374658336
NM_016373.4(WWOX):c.856G>T (p.Asp286Tyr) rs374658336
NM_016373.4(WWOX):c.869T>C (p.Met290Thr) rs1035627222
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) rs119487098
NM_016373.4(WWOX):c.874G>C (p.Ala292Pro) rs376560613
NM_016373.4(WWOX):c.874G>T (p.Ala292Ser) rs376560613
NM_016373.4(WWOX):c.882C>G (p.Asn294Lys) rs2151386030
NM_016373.4(WWOX):c.884G>C (p.Arg295Thr)
NM_016373.4(WWOX):c.892C>G (p.Leu298Val)
NM_016373.4(WWOX):c.899A>G (p.Asn300Ser) rs1860301714
NM_016373.4(WWOX):c.8C>T (p.Ala3Val) rs1241157001
NM_016373.4(WWOX):c.903C>G (p.Ile301Met) rs758799029
NM_016373.4(WWOX):c.904C>T (p.Leu302Phe) rs757597956
NM_016373.4(WWOX):c.915C>A (p.Asn305Lys) rs201818301
NM_016373.4(WWOX):c.923A>G (p.His308Arg) rs2151386107
NM_016373.4(WWOX):c.924C>G (p.His308Gln) rs774296956
NM_016373.4(WWOX):c.931C>T (p.Leu311Phe) rs1455737775
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe) rs79399971
NM_016373.4(WWOX):c.938C>G (p.Pro313Arg)
NM_016373.4(WWOX):c.941G>C (p.Arg314Pro) rs73572838
NM_016373.4(WWOX):c.943G>A (p.Gly315Arg) rs768172617
NM_016373.4(WWOX):c.943G>C (p.Gly315Arg) rs768172617
NM_016373.4(WWOX):c.943G>T (p.Gly315Trp) rs768172617
NM_016373.4(WWOX):c.94G>A (p.Val32Ile) rs2031635728
NM_016373.4(WWOX):c.961G>C (p.Val321Leu) rs2081146962
NM_016373.4(WWOX):c.965A>G (p.His322Arg) rs878855022
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg) rs1567570468
NM_016373.4(WWOX):c.978G>C (p.Met326Ile) rs748074874
NM_016373.4(WWOX):c.978G>T (p.Met326Ile) rs748074874
NM_016373.4(WWOX):c.980T>G (p.Met327Arg) rs1567570484
NM_016373.4(WWOX):c.993T>G (p.Ile331Met)
NM_016373.4(WWOX):c.994C>G (p.His332Asp)
NM_016373.4(WWOX):c.994C>T (p.His332Tyr) rs923399366
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.129-19C>G rs2135157682
NM_016464.5(TMEM138):c.129-3C>T
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly) rs1858060748
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu) rs1858140604
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln) rs2135158062
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe) rs1858141854
NM_016464.5(TMEM138):c.227A>G (p.His76Arg) rs1411782602
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys) rs2135158354
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu) rs2135163033
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile) rs932618021
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr) rs1350244778
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val) rs1045760713
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser) rs1349854928
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile) rs141029883
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu) rs2135165565
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs) rs890070939
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter) rs1000923142
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys) rs1565076874
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
NM_016529.6(ATP8A2):c.-1016T>A
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
NM_016529.6(ATP8A2):c.3273-3C>G rs748588986
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) rs200449118
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017777.3(MKS1):c.-34_-12del rs1244307754
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT rs1555597194
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017791.3(FLVCR2):c.*1003G>A rs549464206
NM_017791.3(FLVCR2):c.*1322G>A rs1566800405
NM_017791.3(FLVCR2):c.*1613C>T rs1890460668
NM_017791.3(FLVCR2):c.*379T>C rs886050789
NM_017791.3(FLVCR2):c.*513A>G rs1890435742
NM_017791.3(FLVCR2):c.*517C>T rs188459017
NM_017791.3(FLVCR2):c.*644G>A rs1890438951
NM_017791.3(FLVCR2):c.*856T>C rs1890443552
NM_017791.3(FLVCR2):c.*98T>C rs886050788
NM_017791.3(FLVCR2):c.1326C>T (p.Leu442=) rs886050787
NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu) rs1566799791
NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys) rs1566799795
NM_017791.3(FLVCR2):c.360C>G (p.Ala120=) rs906645811
NM_017791.3(FLVCR2):c.669+8G>C rs769337002
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_018012.4(KIF26B):c.1340G>A (p.Gly447Glu) rs2103102844
NM_018012.4(KIF26B):c.2023G>C (p.Asp675His) rs752143373
NM_018075.5(ANO10):c.*165G>A rs951493321
NM_018075.5(ANO10):c.*438A>T rs376644560
NM_018075.5(ANO10):c.*464C>T rs886058475
NM_018075.5(ANO10):c.*569T>C rs1044107285
NM_018075.5(ANO10):c.*74dup rs556549778
NM_018075.5(ANO10):c.-95del rs886058483
NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter) rs144272231
NM_018075.5(ANO10):c.1218+4A>T rs886058479
NM_018075.5(ANO10):c.1277T>C (p.Met426Thr) rs768830099
NM_018075.5(ANO10):c.127A>G (p.Lys43Glu) rs747139453
NM_018075.5(ANO10):c.1294-3del rs778730043
NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1339A>T (p.Met447Leu) rs745940196
NM_018075.5(ANO10):c.1416A>C (p.Ala472=) rs886058478
NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu) rs886058477
NM_018075.5(ANO10):c.1683G>C (p.Thr561=) rs141040660
NM_018075.5(ANO10):c.192A>G (p.Leu64=) rs146432615
NM_018075.5(ANO10):c.218G>A (p.Gly73Asp) rs2149481812
NM_018075.5(ANO10):c.338-11T>C rs774494441
NM_018075.5(ANO10):c.616del (p.Glu206fs) rs886058481
NM_018075.5(ANO10):c.857C>T (p.Pro286Leu) rs375157457
NM_018075.5(ANO10):c.882C>G (p.Ile294Met) rs2081034644
NM_018243.4(SEPTIN11):c.265dup (p.Glu89fs) rs2109948029
NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly) rs1846515941
NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)
NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter) rs2134268636
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del) rs746710766
NM_018319.3(TDP1):c.-275C>G rs886050881
NM_018319.4(TDP1):c.*1099G>A rs1888617977
NM_018319.4(TDP1):c.*134A>C rs780471860
NM_018319.4(TDP1):c.*135T>C rs1566938109
NM_018319.4(TDP1):c.*1399T>A rs1888638490
NM_018319.4(TDP1):c.*1511C>G rs1596750474
NM_018319.4(TDP1):c.-242T>G rs533696578
NM_018319.4(TDP1):c.-243C>T rs886873955
NM_018319.4(TDP1):c.-264G>A rs1891509764
NM_018319.4(TDP1):c.-55C>G rs751280891
NM_018319.4(TDP1):c.-76T>C rs886050883
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe) rs892739281
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) rs138711165
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) rs772318046
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly) rs906821798
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp) rs151271332
NM_018718.3(CEP41):c.*1191G>A rs781848072
NM_018718.3(CEP41):c.*1768G>T rs552499760
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C rs574519929
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2725C>T rs1796651983
NM_018718.3(CEP41):c.*287C>T rs1796743356
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3708A>T rs576298616
NM_018718.3(CEP41):c.*4343C>G rs1554413758
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4539C>T rs1796601439
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp) rs1554416156
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr) rs184146463
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser) rs184146463
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp) rs2117546322
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro) rs781878740
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup) rs1796754986
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser) rs782211413
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu) rs1797355895
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg) rs1797203213
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
NM_018718.3(CEP41):c.226C>G (p.Leu76Val) rs1797171250
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys) rs1797171055
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro) rs946180222
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
NM_018718.3(CEP41):c.277G>C (p.Asp93His) rs1797169504
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys) rs2117574982
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr) rs149373377
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn) rs150251054
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
NM_018718.3(CEP41):c.320C>T (p.Ala107Val) rs141025803
NM_018718.3(CEP41):c.33+6G>A rs1798137622
NM_018718.3(CEP41):c.33G>A (p.Glu11=) rs2117739865
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg) rs782235279
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr) rs782508627
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln) rs782614895
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+5T>C
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn) rs782614635
NM_018718.3(CEP41):c.42G>T (p.Met14Ile) rs1797714880
NM_018718.3(CEP41):c.437T>C (p.Val146Ala) rs1170058733
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile) rs2117565108
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser) rs1796890244
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu) rs782587361
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser) rs201818904
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala) rs1796855782
NM_018718.3(CEP41):c.610A>G (p.Met204Val) rs782188831
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe) rs1796853863
NM_018718.3(CEP41):c.642+5C>T rs2117560304
NM_018718.3(CEP41):c.642T>C (p.Tyr214=) rs1796853773
NM_018718.3(CEP41):c.643-9del
NM_018718.3(CEP41):c.653A>G (p.His218Arg) rs527896814
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg) rs1472855500
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly) rs1796819026
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr) rs2117555473
NM_018718.3(CEP41):c.717G>T (p.Met239Ile) rs2117555395
NM_018718.3(CEP41):c.757+5G>A rs909436822
NM_018718.3(CEP41):c.769T>G (p.Leu257Val) rs2117552967
NM_018718.3(CEP41):c.773C>T (p.Ala258Val) rs1050700461
NM_018718.3(CEP41):c.798T>G (p.Ile266Met) rs2117552869
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile) rs2117552856
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser) rs2117552201
NM_018718.3(CEP41):c.928A>G (p.Ile310Val) rs1308536722
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro) rs2117551648
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
NM_018718.3(CEP41):c.973+404_1077del rs1796755672
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln) rs782387467
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu) rs782387467
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro) rs1796760925
NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser) rs1598151147
NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu)
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr) rs750741896
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)
NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp)
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg) rs2041195702
NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr)
NM_018896.5(CACNA1G):c.2509C>T (p.Arg837Cys)
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu) rs536992411
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr) rs2145513175
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) rs2045220988
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly) rs781015006
NM_018896.5(CACNA1G):c.3218G>T (p.Gly1073Val)
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
NM_018896.5(CACNA1G):c.354+5GT[13] rs3833150
NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser) rs1450096310
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) rs1260560600
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg) rs2047867072
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly)
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys) rs756359036
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) rs1555565684
NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys) rs1361597066
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter) rs2050911351
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) rs2050959815
NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=)
NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr) rs2144657245
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) rs1567964995
NM_018896.5(CACNA1G):c.5705A>C (p.Asp1902Ala)
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) rs1312607495
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr) rs1264876481
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His) rs2053744294
NM_018896.5(CACNA1G):c.6860C>T (p.Pro2287Leu)
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) rs1192468690
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) rs2053882218
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)
NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys)
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) rs1558337060
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*401A>G rs1660167809
NM_020247.5(COQ8A):c.*497C>T rs1660172039
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*759T>C rs1017095829
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys) rs536852535
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His) rs2148132744
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg) rs1278938202
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) rs1660021291
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser) rs886046068
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly) rs1659738579
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala) rs767319743
NM_020944.3(GBA2):c.1444A>C (p.Asn482His) rs1826525053
NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu) rs1766783949
NM_021814.5(ELOVL5):c.246+3859C>G
NM_021814.5(ELOVL5):c.332G>A (p.Arg111His)
NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser) rs1766062667
NM_021814.5(ELOVL5):c.692G>T (p.Trp231Leu)
NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_022114.4(PRDM16):c.439-11715_439-4716del
NM_022464.5(SIL1):c.*105C>T
NM_022464.5(SIL1):c.*265C>G
NM_022464.5(SIL1):c.*30C>T
NM_022464.5(SIL1):c.*349T>C
NM_022464.5(SIL1):c.*68del
NM_022464.5(SIL1):c.*80G>C
NM_022464.5(SIL1):c.-10-18951A>G
NM_022464.5(SIL1):c.-106G>C
NM_022464.5(SIL1):c.-1T>C
NM_022464.5(SIL1):c.-29C>G
NM_022464.5(SIL1):c.-92T>A
NM_022464.5(SIL1):c.-98C>T
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
NM_022464.5(SIL1):c.1030-18G>A
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.1A>G (p.Met1Val) rs573588795
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
NM_022464.5(SIL1):c.354-3C>A
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
NM_022464.5(SIL1):c.988G>A (p.Val330Met)
NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val) rs1774342487
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024411.4(PDYN):c.-402C>G rs775379753
NM_024411.5(PDYN):c.*1065C>T rs953182789
NM_024411.5(PDYN):c.*1274T>G rs886056529
NM_024411.5(PDYN):c.*1394C>T rs112661575
NM_024411.5(PDYN):c.*389A>T rs1987615154
NM_024411.5(PDYN):c.*449_*459delinsTAA rs886056533
NM_024411.5(PDYN):c.*556C>A rs73571349
NM_024411.5(PDYN):c.*65C>G rs1987645885
NM_024411.5(PDYN):c.*670A>T rs879202411
NM_024411.5(PDYN):c.*700_*703del rs572674195
NM_024411.5(PDYN):c.*760G>C rs767631485
NM_024411.5(PDYN):c.-42A>T rs886056536
NM_024411.5(PDYN):c.-43G>A rs947395569
NM_024411.5(PDYN):c.217A>G (p.Thr73Ala) rs786205212
NM_024411.5(PDYN):c.244T>C (p.Leu82=) rs987477947
NM_024411.5(PDYN):c.496del (p.Glu166fs) rs768036104
NM_024411.5(PDYN):c.582C>T (p.Asp194=) rs769461186
NM_024411.5(PDYN):c.630C>G (p.Phe210Leu)
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024411.5(PDYN):c.691C>T (p.Arg231Trp) rs201204862
NM_024411.5(PDYN):c.718T>A (p.Ser240Thr)
NM_024411.5(PDYN):c.86G>T (p.Cys29Phe) rs1987927570
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro) rs2137303851
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln) rs1466311097
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His) rs184143186
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) rs2141836997
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) rs201608269
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) rs750338466
NM_033064.4(ATCAY):c.-375G>T rs886054373
NM_033064.5(ATCAY):c.*1051T>C rs1599152069
NM_033064.5(ATCAY):c.*1188G>T rs886054420
NM_033064.5(ATCAY):c.*1322T>G rs960684972
NM_033064.5(ATCAY):c.*143G>A rs537298270
NM_033064.5(ATCAY):c.*1660T>G rs1463951003
NM_033064.5(ATCAY):c.*192_*193del rs796133913
NM_033064.5(ATCAY):c.*1978G>A rs918032296
NM_033064.5(ATCAY):c.*2297C>A rs886054424
NM_033064.5(ATCAY):c.*2357G>C rs551091925
NM_033064.5(ATCAY):c.*2426C>T rs886054426
NM_033064.5(ATCAY):c.*266C>T rs867087852
NM_033064.5(ATCAY):c.*3202G>A rs1293185068
NM_033064.5(ATCAY):c.*3319C>T rs2039082103
NM_033064.5(ATCAY):c.*391C>A rs765579267
NM_033064.5(ATCAY):c.*391C>T rs765579267
NM_033064.5(ATCAY):c.*430G>T rs866573378
NM_033064.5(ATCAY):c.*441G>A rs117035326
NM_033064.5(ATCAY):c.*496C>A rs886054417
NM_033064.5(ATCAY):c.*599T>C rs571828838
NM_033064.5(ATCAY):c.*608G>C rs926357788
NM_033064.5(ATCAY):c.*813G>C rs886054418
NM_033064.5(ATCAY):c.-41-1022G>A
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
NM_033064.5(ATCAY):c.162C>T (p.Asn54=) rs373392142
NM_033064.5(ATCAY):c.544+16dup rs140914543
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_033064.5(ATCAY):c.555C>A (p.Gly185=) rs367736161
NM_033064.5(ATCAY):c.647+15G>A rs117167523
NM_033064.5(ATCAY):c.647+15G>C rs117167523
NM_033064.5(ATCAY):c.678G>A (p.Val226=) rs886054415
NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp) rs2038904766
NM_033071.3(SYNE1):c.17995_17997delGAG
NM_033071.3(SYNE1):c.21832-2dup rs35128811
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_144992.5(VWA3B):c.2951A>C (p.Glu984Ala)
NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg) rs779799210
NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer) rs751867784
NM_152617.4(RNF168):c.496A>G (p.Arg166Gly) rs760613076
NM_152703.5(SAMD9L):c.-779+181T>C rs1792903463
NM_152703.5(SAMD9L):c.1096T>C (p.Phe366Leu)
NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala) rs751090202
NM_152703.5(SAMD9L):c.1679T>G (p.Leu560Arg)
NM_152703.5(SAMD9L):c.1766G>A (p.Arg589Gln)
NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp) rs1792278396
NM_152703.5(SAMD9L):c.227A>G (p.Asn76Ser) rs1792419152
NM_152703.5(SAMD9L):c.2734C>G (p.Gln912Glu)
NM_152703.5(SAMD9L):c.2956C>A (p.Arg986Ser) rs1554341158
NM_152703.5(SAMD9L):c.3066del (p.Phe1021_Tyr1022insTer) rs2116482762
NM_152703.5(SAMD9L):c.308dup (p.Asn103fs) rs758545647
NM_152703.5(SAMD9L):c.3156C>G (p.Asp1052Glu) rs1792194225
NM_152703.5(SAMD9L):c.3229C>T (p.Arg1077Ter) rs373868315
NM_152703.5(SAMD9L):c.3260C>T (p.Ala1087Val)
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.3483A>T (p.Arg1161Ser) rs1477737151
NM_152703.5(SAMD9L):c.3563G>A (p.Arg1188Gln)
NM_152703.5(SAMD9L):c.3892C>G (p.Arg1298Gly) rs368520824
NM_152703.5(SAMD9L):c.3899T>G (p.Phe1300Cys) rs2116474947
NM_152703.5(SAMD9L):c.3932A>T (p.Asp1311Val)
NM_152703.5(SAMD9L):c.3965T>A (p.Leu1322Ter) rs1584271706
NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs) rs745823605
NM_152703.5(SAMD9L):c.499C>A (p.Pro167Thr)
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr) rs1433514195
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153816.6(SNX14):c.119C>T (p.Ala40Val) rs1803676386
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) rs936843937
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681
NM_153816.6(SNX14):c.295C>T (p.His99Tyr) rs1795901647
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn) rs773557814
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) rs765192341
NM_173500.4(TTBK2):c.*507T>G rs886051162
NM_173500.4(TTBK2):c.*548C>T rs1782579071
NM_173500.4(TTBK2):c.*604T>C rs886051161
NM_173500.4(TTBK2):c.*690dup rs886051160
NM_173500.4(TTBK2):c.*953A>G rs934539405
NM_173500.4(TTBK2):c.-125C>G rs1428784964
NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys) rs1889967626
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser) rs577577749
NM_173500.4(TTBK2):c.2107G>A (p.Glu703Lys)
NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)
NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly) rs1476451255
NM_173500.4(TTBK2):c.2928A>T (p.Pro976=) rs1567000293
NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)
NM_173500.4(TTBK2):c.3329G>T (p.Arg1110Leu) rs146279300
NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=) rs2061791617
NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp) rs1566996154
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser) rs563297091
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys) rs933067569
NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.4(PCSK9):c.*1154C>A rs886046451
NM_174936.4(PCSK9):c.*1170_*1173dup rs377553033
NM_174936.4(PCSK9):c.*1229G>T rs886046453
NM_174936.4(PCSK9):c.*152G>T rs886046438
NM_174936.4(PCSK9):c.*274C>A rs886046439
NM_174936.4(PCSK9):c.*404G>A rs886046440
NM_174936.4(PCSK9):c.*404G>C rs886046440
NM_174936.4(PCSK9):c.*426C>A rs886046441
NM_174936.4(PCSK9):c.*464C>A rs886046442
NM_174936.4(PCSK9):c.*470G>A rs886046443
NM_174936.4(PCSK9):c.*488C>A rs886046444
NM_174936.4(PCSK9):c.*509C>A rs886046445
NM_174936.4(PCSK9):c.*58A>G rs886046437
NM_174936.4(PCSK9):c.*785C>A rs886046448
NM_174936.4(PCSK9):c.*78C>T rs757944328
NM_174936.4(PCSK9):c.*846G>T rs886046449
NM_174936.4(PCSK9):c.-180T>G rs886046431
NM_174936.4(PCSK9):c.-185A>G rs886046430
NM_174936.4(PCSK9):c.-200C>A rs886046429
NM_174936.4(PCSK9):c.-221T>G rs886046428
NM_174936.4(PCSK9):c.-237T>G rs886046427
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432
NM_177438.3(DICER1):c.2458A>G (p.Thr820Ala) rs1595380820
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val) rs1554126530
NM_181675.4(PPP2R2B):c.737C>A (p.Thr246Lys)
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*449T>A rs886061188
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.*580del rs886061186
NM_182961.4(SYNE1):c.*667del rs71660056
NM_182961.4(SYNE1):c.-224+1G>A
NM_182961.4(SYNE1):c.-352C>T rs886061220
NM_182961.4(SYNE1):c.-40A>T rs2099690467
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met) rs756088149
NM_182961.4(SYNE1):c.10051A>G (p.Thr3351Ala) rs2097039682
NM_182961.4(SYNE1):c.10051A>T (p.Thr3351Ser) rs2097039682
NM_182961.4(SYNE1):c.10078C>G (p.Gln3360Glu)
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10132A>C (p.Ile3378Leu) rs758060339
NM_182961.4(SYNE1):c.10133T>C (p.Ile3378Thr)
NM_182961.4(SYNE1):c.10135C>T (p.Arg3379Cys)
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe) rs754599705
NM_182961.4(SYNE1):c.10190_10191delinsCA (p.Gly3397Ala) rs2154069302
NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys) rs1179568983
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val) rs546645393
NM_182961.4(SYNE1):c.10223T>C (p.Met3408Thr) rs1212823311
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu) rs748911036
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10277C>T (p.Thr3426Ile) rs2096943501
NM_182961.4(SYNE1):c.10280C>G (p.Thr3427Arg)
NM_182961.4(SYNE1):c.10283T>C (p.Met3428Thr)
NM_182961.4(SYNE1):c.10288G>A (p.Gly3430Arg) rs1047722501
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=) rs886061205
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
NM_182961.4(SYNE1):c.10347C>G (p.Ile3449Met) rs201204269
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro) rs200003096
NM_182961.4(SYNE1):c.10379A>G (p.Tyr3460Cys)
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly) rs2096893025
NM_182961.4(SYNE1):c.10430A>G (p.Gln3477Arg)
NM_182961.4(SYNE1):c.10450G>A (p.Val3484Ile)
NM_182961.4(SYNE1):c.10469T>C (p.Leu3490Pro)
NM_182961.4(SYNE1):c.1047+4T>G rs9397106
NM_182961.4(SYNE1):c.1048-4_1048-3del rs755509246
NM_182961.4(SYNE1):c.10539A>C (p.Glu3513Asp)
NM_182961.4(SYNE1):c.10543C>T (p.Leu3515Phe) rs1447737732
NM_182961.4(SYNE1):c.10574C>T (p.Ala3525Val)
NM_182961.4(SYNE1):c.1058A>C (p.His353Pro)
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=) rs765669433
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) rs776816480
NM_182961.4(SYNE1):c.10633G>A (p.Gly3545Arg)
NM_182961.4(SYNE1):c.10649A>G (p.Asn3550Ser)
NM_182961.4(SYNE1):c.1066G>A (p.Val356Ile) rs1156294695
NM_182961.4(SYNE1):c.10699G>A (p.Ala3567Thr)
NM_182961.4(SYNE1):c.10700C>T (p.Ala3567Val) rs2154051091
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His) rs779366372
NM_182961.4(SYNE1):c.10735T>C (p.Trp3579Arg)
NM_182961.4(SYNE1):c.10749G>C (p.Gln3583His)
NM_182961.4(SYNE1):c.1075G>A (p.Glu359Lys)
NM_182961.4(SYNE1):c.10766C>G (p.Thr3589Ser)
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu) rs143034104
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val) rs2098931426
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
NM_182961.4(SYNE1):c.10807A>G (p.Met3603Val)
NM_182961.4(SYNE1):c.10818G>C (p.Lys3606Asn)
NM_182961.4(SYNE1):c.10847C>T (p.Thr3616Ile)
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys) rs1214109688
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr) rs2098931353
NM_182961.4(SYNE1):c.10969G>C (p.Glu3657Gln)
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=) rs767172575
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly) rs767172575
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln) rs143673038
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met) rs567753957
NM_182961.4(SYNE1):c.11059C>A (p.Gln3687Lys)
NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
NM_182961.4(SYNE1):c.11115G>C (p.Gln3705His) rs2154045109
NM_182961.4(SYNE1):c.1119C>T (p.His373=) rs886061217
NM_182961.4(SYNE1):c.11208C>A (p.Asp3736Glu)
NM_182961.4(SYNE1):c.11253+6C>A rs2096773869
NM_182961.4(SYNE1):c.11284A>C (p.Ser3762Arg) rs953580081
NM_182961.4(SYNE1):c.11344G>A (p.Glu3782Lys)
NM_182961.4(SYNE1):c.1135T>C (p.Ser379Pro)
NM_182961.4(SYNE1):c.11408C>T (p.Thr3803Ile) rs2096753111
NM_182961.4(SYNE1):c.11414G>A (p.Arg3805Gln)
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu) rs1207624769
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly) rs2096752876
NM_182961.4(SYNE1):c.11425A>G (p.Met3809Val)
NM_182961.4(SYNE1):c.11463C>A (p.Phe3821Leu) rs2154039505
NM_182961.4(SYNE1):c.11464T>A (p.Ser3822Thr)
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=) rs146919170
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile) rs770523249
NM_182961.4(SYNE1):c.11494A>T (p.Ile3832Leu)
NM_182961.4(SYNE1):c.11560G>C (p.Ala3854Pro) rs776601282
NM_182961.4(SYNE1):c.11569T>C (p.Ser3857Pro)
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met) rs755039909
NM_182961.4(SYNE1):c.11657T>C (p.Leu3886Pro)
NM_182961.4(SYNE1):c.11662C>A (p.Gln3888Lys) rs1590820792
NM_182961.4(SYNE1):c.11666A>G (p.Asp3889Gly)
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp) rs750372071
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly) rs935958519
NM_182961.4(SYNE1):c.1171A>G (p.Arg391Gly)
NM_182961.4(SYNE1):c.1173A>C (p.Arg391Ser)
NM_182961.4(SYNE1):c.1178C>T (p.Thr393Ile)
NM_182961.4(SYNE1):c.11902-3C>T
NM_182961.4(SYNE1):c.11920G>T (p.Ala3974Ser) rs2154025706
NM_182961.4(SYNE1):c.11935C>A (p.Arg3979Ser) rs755560676
NM_182961.4(SYNE1):c.11936G>T (p.Arg3979Leu)
NM_182961.4(SYNE1):c.11999C>T (p.Ala4000Val)
NM_182961.4(SYNE1):c.12035G>T (p.Gly4012Val) rs745342797
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu) rs756840607
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val) rs756840607
NM_182961.4(SYNE1):c.12059T>A (p.Ile4020Asn) rs2154025477
NM_182961.4(SYNE1):c.12060C>G (p.Ile4020Met) rs2096650506
NM_182961.4(SYNE1):c.12068C>G (p.Thr4023Arg)
NM_182961.4(SYNE1):c.12071C>T (p.Ala4024Val) rs2154025456
NM_182961.4(SYNE1):c.1208T>C (p.Leu403Pro)
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg) rs2096590726
NM_182961.4(SYNE1):c.12097C>T (p.His4033Tyr)
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val) rs761744256
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys) rs1159138676
NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)
NM_182961.4(SYNE1):c.12194C>G (p.Pro4065Arg)
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn) rs1366322267
NM_182961.4(SYNE1):c.12215C>T (p.Ala4072Val)
NM_182961.4(SYNE1):c.12256G>A (p.Ala4086Thr)
NM_182961.4(SYNE1):c.12287T>A (p.Met4096Lys) rs771323185
NM_182961.4(SYNE1):c.12287T>C (p.Met4096Thr) rs771323185
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp) rs1554492224
NM_182961.4(SYNE1):c.12349A>G (p.Thr4117Ala)
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met) rs144274149
NM_182961.4(SYNE1):c.12371A>C (p.Gln4124Pro) rs911413208
NM_182961.4(SYNE1):c.12380A>G (p.Asn4127Ser)
NM_182961.4(SYNE1):c.12400G>A (p.Glu4134Lys) rs898572784
NM_182961.4(SYNE1):c.12446C>A (p.Ala4149Asp)
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met) rs2096403501
NM_182961.4(SYNE1):c.12470A>G (p.Lys4157Arg)
NM_182961.4(SYNE1):c.12492G>T (p.Glu4164Asp) rs763067012
NM_182961.4(SYNE1):c.12496A>C (p.Asn4166His) rs147385939
NM_182961.4(SYNE1):c.12535_12537del (p.Val4179del) rs1356327027
NM_182961.4(SYNE1):c.12552C>G (p.Ser4184Arg)
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn) rs149536991
NM_182961.4(SYNE1):c.12598A>G (p.Thr4200Ala)
NM_182961.4(SYNE1):c.1259G>A (p.Arg420Lys)
NM_182961.4(SYNE1):c.12638A>G (p.His4213Arg) rs1032510868
NM_182961.4(SYNE1):c.12647A>G (p.Asp4216Gly) rs1363382711
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp) rs866991892
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
NM_182961.4(SYNE1):c.12668G>T (p.Arg4223Leu) rs140492158
NM_182961.4(SYNE1):c.12676A>C (p.Asn4226His) rs2096319568
NM_182961.4(SYNE1):c.12679A>C (p.Asn4227His)
NM_182961.4(SYNE1):c.12719G>A (p.Arg4240Lys)
NM_182961.4(SYNE1):c.1271C>T (p.Ala424Val)
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr) rs1590300572
NM_182961.4(SYNE1):c.12743T>C (p.Val4248Ala)
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=) rs1554474578
NM_182961.4(SYNE1):c.12809G>A (p.Ser4270Asn)
NM_182961.4(SYNE1):c.1284A>C (p.Glu428Asp)
NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)
NM_182961.4(SYNE1):c.129+3A>G
NM_182961.4(SYNE1):c.12907A>G (p.Ile4303Val) rs758301679
NM_182961.4(SYNE1):c.12914A>T (p.His4305Leu)
NM_182961.4(SYNE1):c.1291G>A (p.Val431Ile)
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe) rs761198236
NM_182961.4(SYNE1):c.12923T>C (p.Leu4308Ser)
NM_182961.4(SYNE1):c.12941T>C (p.Val4314Ala) rs2153974951
NM_182961.4(SYNE1):c.12956G>A (p.Ser4319Asn) rs2153974889
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
NM_182961.4(SYNE1):c.12997A>G (p.Lys4333Glu)
NM_182961.4(SYNE1):c.13011A>T (p.Gln4337His)
NM_182961.4(SYNE1):c.13064A>G (p.Glu4355Gly) rs2153974617
NM_182961.4(SYNE1):c.1309G>A (p.Glu437Lys) rs2154294590
NM_182961.4(SYNE1):c.13102G>T (p.Ala4368Ser) rs201900423
NM_182961.4(SYNE1):c.13120A>G (p.Ser4374Gly)
NM_182961.4(SYNE1):c.13136T>C (p.Met4379Thr)
NM_182961.4(SYNE1):c.13153A>G (p.Met4385Val)
NM_182961.4(SYNE1):c.13187C>T (p.Ala4396Val)
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
NM_182961.4(SYNE1):c.13197G>T (p.Met4399Ile)
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly) rs886061204
NM_182961.4(SYNE1):c.13240G>T (p.Asp4414Tyr)
NM_182961.4(SYNE1):c.13259G>A (p.Arg4420Gln) rs766831979
NM_182961.4(SYNE1):c.13279C>G (p.Leu4427Val)
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr) rs1405025412
NM_182961.4(SYNE1):c.13372T>A (p.Phe4458Ile) rs2153973664
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
NM_182961.4(SYNE1):c.13391A>G (p.Gln4464Arg) rs2153973584
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys) rs554814659
NM_182961.4(SYNE1):c.13418A>G (p.Glu4473Gly) rs1202464044
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu) rs768085752
NM_182961.4(SYNE1):c.13475A>T (p.Gln4492Leu)
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly) rs2153973254
NM_182961.4(SYNE1):c.13511A>C (p.Lys4504Thr)
NM_182961.4(SYNE1):c.13513A>T (p.Thr4505Ser)
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile) rs1554471456
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala) rs933108692
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
NM_182961.4(SYNE1):c.13543G>C (p.Ala4515Pro)
NM_182961.4(SYNE1):c.13562T>C (p.Met4521Thr)
NM_182961.4(SYNE1):c.13587G>C (p.Lys4529Asn) rs1265607198
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro) rs2096237841
NM_182961.4(SYNE1):c.1360C>G (p.Gln454Glu) rs542819749
NM_182961.4(SYNE1):c.13620G>C (p.Gln4540His) rs755192690
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe) rs138770612
NM_182961.4(SYNE1):c.13658G>A (p.Arg4553Gln)
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys) rs1590225545
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp) rs968829958
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile) rs2153972296
NM_182961.4(SYNE1):c.13832A>T (p.Gln4611Leu) rs762392590
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del) rs1085307610
NM_182961.4(SYNE1):c.13877G>C (p.Gly4626Ala) rs2096230090
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup) rs886043161
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg) rs374697325
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
NM_182961.4(SYNE1):c.14116G>C (p.Val4706Leu) rs374596074
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr) rs1346910826
NM_182961.4(SYNE1):c.14180G>A (p.Gly4727Glu)
NM_182961.4(SYNE1):c.14198T>A (p.Leu4733Gln)
NM_182961.4(SYNE1):c.14234A>G (p.Gln4745Arg)
NM_182961.4(SYNE1):c.1424T>C (p.Ile475Thr)
NM_182961.4(SYNE1):c.14253G>C (p.Lys4751Asn) rs766721753
NM_182961.4(SYNE1):c.14279A>T (p.His4760Leu)
NM_182961.4(SYNE1):c.14318T>C (p.Leu4773Ser)
NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)
NM_182961.4(SYNE1):c.1432C>T (p.Pro478Ser) rs756636517
NM_182961.4(SYNE1):c.14335G>A (p.Ala4779Thr) rs368490158
NM_182961.4(SYNE1):c.14353A>G (p.Lys4785Glu) rs2153970528
NM_182961.4(SYNE1):c.14359T>C (p.Cys4787Arg)
NM_182961.4(SYNE1):c.14378A>G (p.Gln4793Arg)
NM_182961.4(SYNE1):c.14398G>C (p.Glu4800Gln) rs2096215013
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys) rs746657854
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.14441A>G (p.Lys4814Arg)
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.14522A>G (p.Asp4841Gly) rs2096212044
NM_182961.4(SYNE1):c.14548G>A (p.Ala4850Thr)
NM_182961.4(SYNE1):c.1455G>A (p.Met485Ile) rs2154279827
NM_182961.4(SYNE1):c.14578T>A (p.Ser4860Thr)
NM_182961.4(SYNE1):c.1459G>A (p.Glu487Lys)
NM_182961.4(SYNE1):c.14609C>T (p.Ser4870Phe)
NM_182961.4(SYNE1):c.14611G>A (p.Ala4871Thr) rs2096210316
NM_182961.4(SYNE1):c.14617G>A (p.Gly4873Ser) rs2153969748
NM_182961.4(SYNE1):c.14626G>A (p.Val4876Met) rs1297328408
NM_182961.4(SYNE1):c.14636G>A (p.Cys4879Tyr)
NM_182961.4(SYNE1):c.14639A>G (p.Glu4880Gly)
NM_182961.4(SYNE1):c.14649G>A (p.Met4883Ile) rs922999800
NM_182961.4(SYNE1):c.14681G>A (p.Ser4894Asn) rs2096207947
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg) rs753891807
NM_182961.4(SYNE1):c.14738T>C (p.Leu4913Pro) rs2096206184
NM_182961.4(SYNE1):c.14741A>G (p.Asp4914Gly)
NM_182961.4(SYNE1):c.14750T>A (p.Leu4917Gln) rs2153969244
NM_182961.4(SYNE1):c.14756A>G (p.Asp4919Gly) rs2096205614
NM_182961.4(SYNE1):c.14782C>G (p.Gln4928Glu)
NM_182961.4(SYNE1):c.14809A>C (p.Ser4937Arg) rs780093837
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
NM_182961.4(SYNE1):c.14854T>C (p.Phe4952Leu) rs1044018341
NM_182961.4(SYNE1):c.148G>A (p.Val50Met) rs1023433513
NM_182961.4(SYNE1):c.14917C>G (p.Leu4973Val) rs35085679
NM_182961.4(SYNE1):c.14956-19T>A
NM_182961.4(SYNE1):c.14978G>A (p.Ser4993Asn)
NM_182961.4(SYNE1):c.15065G>T (p.Gly5022Val)
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
NM_182961.4(SYNE1):c.15080G>A (p.Ser5027Asn)
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly) rs1563087715
NM_182961.4(SYNE1):c.15095T>C (p.Leu5032Pro) rs2153955400
NM_182961.4(SYNE1):c.15122C>T (p.Thr5041Ile)
NM_182961.4(SYNE1):c.15124G>A (p.Glu5042Lys) rs533927341
NM_182961.4(SYNE1):c.15140G>T (p.Ser5047Ile)
NM_182961.4(SYNE1):c.15151_15152delinsAT (p.Glu5051Met) rs2096068834
NM_182961.4(SYNE1):c.15162C>A (p.Ser5054Arg)
NM_182961.4(SYNE1):c.15181C>G (p.Pro5061Ala) rs886042595
NM_182961.4(SYNE1):c.15188T>C (p.Ile5063Thr) rs1486769103
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val) rs756766678
NM_182961.4(SYNE1):c.1528T>A (p.Tyr510Asn) rs2154279114
NM_182961.4(SYNE1):c.152A>G (p.Asp51Gly)
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr) rs759275432
NM_182961.4(SYNE1):c.1532G>A (p.Arg511His) rs1432273399
NM_182961.4(SYNE1):c.15335A>C (p.Glu5112Ala) rs2153953000
NM_182961.4(SYNE1):c.15341T>C (p.Ile5114Thr)
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu) rs1309063617
NM_182961.4(SYNE1):c.15368A>G (p.Lys5123Arg) rs2153952840
NM_182961.4(SYNE1):c.15423A>C (p.Lys5141Asn)
NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg) rs2153952625
NM_182961.4(SYNE1):c.1546C>A (p.Leu516Met)
NM_182961.4(SYNE1):c.15470A>T (p.Glu5157Val)
NM_182961.4(SYNE1):c.15497C>T (p.Ala5166Val) rs2153949505
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn) rs560155321
NM_182961.4(SYNE1):c.15500C>T (p.Ser5167Leu)
NM_182961.4(SYNE1):c.15533A>T (p.Lys5178Ile) rs2096026505
NM_182961.4(SYNE1):c.15535G>A (p.Ala5179Thr)
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.15554T>C (p.Met5185Thr)
NM_182961.4(SYNE1):c.15580C>G (p.Arg5194Gly)
NM_182961.4(SYNE1):c.15581G>A (p.Arg5194His) rs751121212
NM_182961.4(SYNE1):c.15584T>G (p.Leu5195Arg) rs758161214
NM_182961.4(SYNE1):c.15587G>C (p.Arg5196Pro) rs752229373
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=) rs762262465
NM_182961.4(SYNE1):c.15620A>G (p.Glu5207Gly)
NM_182961.4(SYNE1):c.15641C>T (p.Thr5214Met)
NM_182961.4(SYNE1):c.15678G>A (p.Met5226Ile) rs2095955611
NM_182961.4(SYNE1):c.15704C>T (p.Pro5235Leu) rs2095954870
NM_182961.4(SYNE1):c.15763G>A (p.Asp5255Asn)
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg) rs1379759625
NM_182961.4(SYNE1):c.15767C>T (p.Thr5256Met)
NM_182961.4(SYNE1):c.15772G>A (p.Val5258Ile)
NM_182961.4(SYNE1):c.15791A>G (p.Gln5264Arg) rs2153938686
NM_182961.4(SYNE1):c.15830G>A (p.Ser5277Asn) rs2095950565
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn) rs1322082202
NM_182961.4(SYNE1):c.15850G>A (p.Ala5284Thr)
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu) rs758942889
NM_182961.4(SYNE1):c.15880A>G (p.Met5294Val) rs768403781
NM_182961.4(SYNE1):c.15881T>C (p.Met5294Thr) rs748905719
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu) rs1221150819
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=) rs149215868
NM_182961.4(SYNE1):c.15913C>A (p.Leu5305Met) rs2153937753
NM_182961.4(SYNE1):c.15917+3A>T rs2153937725
NM_182961.4(SYNE1):c.15919A>T (p.Met5307Leu) rs1554441847
NM_182961.4(SYNE1):c.15951G>C (p.Leu5317Phe)
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met) rs886061203
NM_182961.4(SYNE1):c.15978A>C (p.Glu5326Asp) rs2095874810
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys) rs765080592
NM_182961.4(SYNE1):c.16039G>T (p.Gly5347Trp)
NM_182961.4(SYNE1):c.1603T>A (p.Ser535Thr)
NM_182961.4(SYNE1):c.16048A>G (p.Thr5350Ala) rs2095873538
NM_182961.4(SYNE1):c.16050AATAGA[1] (p.Glu5352_Ile5353del) rs1487695655
NM_182961.4(SYNE1):c.16067A>T (p.Gln5356Leu)
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala) rs1342214470
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe) rs942561370
NM_182961.4(SYNE1):c.16204G>A (p.Glu5402Lys) rs1320150804
NM_182961.4(SYNE1):c.16205A>T (p.Glu5402Val) rs2153923807
NM_182961.4(SYNE1):c.16228C>G (p.Arg5410Gly)
NM_182961.4(SYNE1):c.16236+4A>C
NM_182961.4(SYNE1):c.16248A>C (p.Lys5416Asn) rs2095804308
NM_182961.4(SYNE1):c.1632+3G>A
NM_182961.4(SYNE1):c.16349C>A (p.Ala5450Glu) rs181649865
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val) rs181649865
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
NM_182961.4(SYNE1):c.16388A>T (p.Lys5463Met)
NM_182961.4(SYNE1):c.16415G>A (p.Cys5472Tyr)
NM_182961.4(SYNE1):c.16442C>T (p.Ala5481Val)
NM_182961.4(SYNE1):c.16472G>T (p.Gly5491Val) rs530429418
NM_182961.4(SYNE1):c.16495A>C (p.Lys5499Gln) rs2153899250
NM_182961.4(SYNE1):c.16501A>G (p.Ile5501Val) rs2153899235
NM_182961.4(SYNE1):c.16534A>G (p.Ile5512Val) rs2095781749
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn) rs886061216
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser) rs1563012099
NM_182961.4(SYNE1):c.16641A>T (p.Lys5547Asn) rs2153893118
NM_182961.4(SYNE1):c.16648G>C (p.Ala5550Pro)
NM_182961.4(SYNE1):c.16666T>A (p.Trp5556Arg) rs2095739223
NM_182961.4(SYNE1):c.16673C>T (p.Ser5558Phe) rs1379717748
NM_182961.4(SYNE1):c.16688G>A (p.Arg5563Gln)
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
NM_182961.4(SYNE1):c.167A>G (p.Asp56Gly)
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro) rs886043922
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys) rs1045463275
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser) rs765080468
NM_182961.4(SYNE1):c.16880T>C (p.Leu5627Pro) rs2153836967
NM_182961.4(SYNE1):c.16897-6C>G rs372179792
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys) rs2153836745
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu) rs776905124
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln) rs886043150
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile) rs2095499163
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met) rs1479722158
NM_182961.4(SYNE1):c.1707G>A (p.Met569Ile)
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser) rs2153836097
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly) rs780396166
NM_182961.4(SYNE1):c.1715A>G (p.Lys572Arg) rs1192063694
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp) rs138941941
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr) rs775685010
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
NM_182961.4(SYNE1):c.17203-5C>A rs886044642
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro) rs2095450657
NM_182961.4(SYNE1):c.17308A>G (p.Asn5770Asp)
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys) rs2095448965
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr) rs774018511
NM_182961.4(SYNE1):c.17346+17C>T
NM_182961.4(SYNE1):c.17347-13A>G
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser) rs764611066
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp) rs2153813360
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly) rs2095195177
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys) rs918895767
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln) rs918895767
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly) rs886042413
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His) rs2095191599
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val) rs2153813002
NM_182961.4(SYNE1):c.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn) rs1450245566
NM_182961.4(SYNE1):c.17597A>C (p.Glu5866Ala)
NM_182961.4(SYNE1):c.17605A>G (p.Thr5869Ala) rs2153809663
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17682+4C>T
NM_182961.4(SYNE1):c.17698C>G (p.Gln5900Glu)
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr) rs747150703
NM_182961.4(SYNE1):c.17758G>T (p.Ala5920Ser) rs765300968
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=) rs997194150
NM_182961.4(SYNE1):c.17850+4A>G rs200922100
NM_182961.4(SYNE1):c.1786A>C (p.Asn596His)
NM_182961.4(SYNE1):c.17890C>T (p.Arg5964Cys)
NM_182961.4(SYNE1):c.17956C>A (p.Leu5986Ile)
NM_182961.4(SYNE1):c.17959A>G (p.Ser5987Gly)
NM_182961.4(SYNE1):c.17967C>A (p.Ser5989Arg) rs2153782971
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly) rs1554363340
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys) rs1589456322
NM_182961.4(SYNE1):c.18007C>T (p.His6003Tyr)
NM_182961.4(SYNE1):c.18013-3C>T rs2153732604
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
NM_182961.4(SYNE1):c.18073G>T (p.Ala6025Ser)
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly) rs780920250
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His) rs147615757
NM_182961.4(SYNE1):c.18161T>C (p.Met6054Thr) rs2153731962
NM_182961.4(SYNE1):c.18207+13T>G
NM_182961.4(SYNE1):c.18208-4A>G rs1246664941
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys) rs886043015
NM_182961.4(SYNE1):c.18242A>G (p.Gln6081Arg)
NM_182961.4(SYNE1):c.1825G>A (p.Glu609Lys) rs2154269816
NM_182961.4(SYNE1):c.18308A>G (p.Lys6103Arg)
NM_182961.4(SYNE1):c.18361_18362delinsAT (p.Ala6121Ile) rs2153724594
NM_182961.4(SYNE1):c.18381+3A>C rs2153724535
NM_182961.4(SYNE1):c.18389T>G (p.Leu6130Arg)
NM_182961.4(SYNE1):c.18409G>A (p.Val6137Met) rs945540285
NM_182961.4(SYNE1):c.18487G>A (p.Glu6163Lys)
NM_182961.4(SYNE1):c.18504G>T (p.Lys6168Asn)
NM_182961.4(SYNE1):c.18520G>A (p.Gly6174Arg)
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg) rs2093773675
NM_182961.4(SYNE1):c.18565A>G (p.Asn6189Asp)
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys) rs867471417
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile) rs886044368
NM_182961.4(SYNE1):c.18592GAG[1] (p.Glu6199del) rs771543751
NM_182961.4(SYNE1):c.18602A>G (p.Asp6201Gly) rs375829264
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val) rs375829264
NM_182961.4(SYNE1):c.18605T>A (p.Val6202Asp)
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser) rs201685248
NM_182961.4(SYNE1):c.18659G>T (p.Arg6220Leu) rs377307244
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala) rs886061202
NM_182961.4(SYNE1):c.1867G>A (p.Ala623Thr)
NM_182961.4(SYNE1):c.18680G>A (p.Arg6227Gln)
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu) rs778929049
NM_182961.4(SYNE1):c.18683A>G (p.Gln6228Arg)
NM_182961.4(SYNE1):c.18705+6G>A rs2153679070
NM_182961.4(SYNE1):c.1871G>A (p.Ser624Asn)
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp) rs2092880052
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln) rs200360218
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn) rs2092878526
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro) rs886061201
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val) rs1275027623
NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)
NM_182961.4(SYNE1):c.18824C>T (p.Pro6275Leu) rs2092093757
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
NM_182961.4(SYNE1):c.18876A>C (p.Glu6292Asp) rs778537486
NM_182961.4(SYNE1):c.18885G>A (p.Met6295Ile)
NM_182961.4(SYNE1):c.1891G>T (p.Asp631Tyr) rs771327791
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln) rs376472604
NM_182961.4(SYNE1):c.18972G>C (p.Val6324=) rs1316935433
NM_182961.4(SYNE1):c.19001C>T (p.Ser6334Phe)
NM_182961.4(SYNE1):c.19010C>G (p.Pro6337Arg) rs2090949177
NM_182961.4(SYNE1):c.19051G>A (p.Val6351Ile) rs2090941359
NM_182961.4(SYNE1):c.19084T>A (p.Phe6362Ile) rs2090937224
NM_182961.4(SYNE1):c.19093G>T (p.Val6365Phe) rs2153628762
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr) rs769911507
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu) rs1554285472
NM_182961.4(SYNE1):c.19122G>T (p.Arg6374Ser)
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr) rs1588858602
NM_182961.4(SYNE1):c.19132C>G (p.His6378Asp) rs781479222
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg) rs1554756030
NM_182961.4(SYNE1):c.19141C>A (p.Gln6381Lys)
NM_182961.4(SYNE1):c.19163C>T (p.Ser6388Leu)
NM_182961.4(SYNE1):c.19166C>G (p.Ala6389Gly)
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=) rs2090636581
NM_182961.4(SYNE1):c.19193A>C (p.Glu6398Ala)
NM_182961.4(SYNE1):c.19203A>T (p.Leu6401Phe) rs966960053
NM_182961.4(SYNE1):c.19214C>T (p.Thr6405Ile) rs2153623229
NM_182961.4(SYNE1):c.19260+3A>G
NM_182961.4(SYNE1):c.19289C>G (p.Ser6430Cys)
NM_182961.4(SYNE1):c.19300G>C (p.Asp6434His)
NM_182961.4(SYNE1):c.19305G>C (p.Lys6435Asn)
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr) rs996252466
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn) rs2090468441
NM_182961.4(SYNE1):c.19316T>C (p.Leu6439Ser)
NM_182961.4(SYNE1):c.1932+9G>T rs746181375
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr) rs1315831856
NM_182961.4(SYNE1):c.19373T>C (p.Leu6458Ser) rs2153620062
NM_182961.4(SYNE1):c.19433A>G (p.Gln6478Arg) rs2153619732
NM_182961.4(SYNE1):c.1945A>G (p.Asn649Asp)
NM_182961.4(SYNE1):c.1948T>G (p.Leu650Val) rs2154267666
NM_182961.4(SYNE1):c.19496C>T (p.Ser6499Leu) rs779049973
NM_182961.4(SYNE1):c.194C>T (p.Ala65Val)
NM_182961.4(SYNE1):c.19577T>C (p.Ile6526Thr) rs2086639076
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
NM_182961.4(SYNE1):c.19588G>A (p.Glu6530Lys) rs2086635846
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys) rs1290381941
NM_182961.4(SYNE1):c.19635G>C (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=) rs773211579
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
NM_182961.4(SYNE1):c.19680C>G (p.Leu6560=)
NM_182961.4(SYNE1):c.19720A>G (p.Ile6574Val)
NM_182961.4(SYNE1):c.19787A>G (p.Gln6596Arg) rs2085923878
NM_182961.4(SYNE1):c.1980G>A (p.Met660Ile) rs2098746138
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr) rs769943207
NM_182961.4(SYNE1):c.19853C>T (p.Ser6618Phe)
NM_182961.4(SYNE1):c.19893+5A>G rs374102244
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.19918C>T (p.His6640Tyr)
NM_182961.4(SYNE1):c.19951A>C (p.Ile6651Leu)
NM_182961.4(SYNE1):c.19980_19981delinsAA (p.Gln6661Lys) rs2153551621
NM_182961.4(SYNE1):c.19987C>T (p.His6663Tyr)
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr) rs2085071185
NM_182961.4(SYNE1):c.20002G>T (p.Ala6668Ser) rs770873356
NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu) rs578055399
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser) rs1376604930
NM_182961.4(SYNE1):c.20104A>G (p.Ser6702Gly) rs2084228622
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu) rs1189558235
NM_182961.4(SYNE1):c.20122G>C (p.Val6708Leu) rs765132195
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp) rs769305344
NM_182961.4(SYNE1):c.20162A>G (p.Asn6721Ser)
NM_182961.4(SYNE1):c.20230C>T (p.Pro6744Ser)
NM_182961.4(SYNE1):c.20315T>G (p.Leu6772Arg)
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn) rs949257779
NM_182961.4(SYNE1):c.20364C>A (p.His6788Gln)
NM_182961.4(SYNE1):c.20395A>G (p.Arg6799Gly) rs2153534806
NM_182961.4(SYNE1):c.20401C>G (p.Gln6801Glu)
NM_182961.4(SYNE1):c.20419C>G (p.Leu6807Val) rs2083603543
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val) rs1562385964
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
NM_182961.4(SYNE1):c.20506C>T (p.Arg6836Cys)
NM_182961.4(SYNE1):c.20507G>A (p.Arg6836His)
NM_182961.4(SYNE1):c.20614G>T (p.Val6872Leu)
NM_182961.4(SYNE1):c.20636C>T (p.Ser6879Phe) rs769820392
NM_182961.4(SYNE1):c.20645C>G (p.Ser6882Trp)
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His) rs758105121
NM_182961.4(SYNE1):c.20648G>T (p.Arg6883Leu)
NM_182961.4(SYNE1):c.20666C>G (p.Thr6889Ser) rs2083351978
NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)
NM_182961.4(SYNE1):c.20690C>T (p.Ala6897Val) rs369855513
NM_182961.4(SYNE1):c.20692G>T (p.Val6898Phe)
NM_182961.4(SYNE1):c.20712G>T (p.Gln6904His)
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=) rs2082942186
NM_182961.4(SYNE1):c.20746A>G (p.Ile6916Val)
NM_182961.4(SYNE1):c.20773C>G (p.Leu6925Val)
NM_182961.4(SYNE1):c.20795A>C (p.Lys6932Thr)
NM_182961.4(SYNE1):c.20817T>A (p.Asn6939Lys)
NM_182961.4(SYNE1):c.20818T>G (p.Ser6940Ala)
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly) rs886044105
NM_182961.4(SYNE1):c.20851C>G (p.Gln6951Glu) rs2153517122
NM_182961.4(SYNE1):c.20862+5T>A
NM_182961.4(SYNE1):c.20863-5T>G rs2082753195
NM_182961.4(SYNE1):c.20900T>C (p.Val6967Ala)
NM_182961.4(SYNE1):c.20928A>C (p.Gln6976His) rs763904392
NM_182961.4(SYNE1):c.20941G>T (p.Asp6981Tyr)
NM_182961.4(SYNE1):c.20956C>T (p.Arg6986Cys)
NM_182961.4(SYNE1):c.20975T>A (p.Phe6992Tyr) rs2082727720
NM_182961.4(SYNE1):c.21005_21006delinsAG (p.Ser7002Lys)
NM_182961.4(SYNE1):c.21007T>A (p.Trp7003Arg) rs2082723314
NM_182961.4(SYNE1):c.21007T>C (p.Trp7003Arg) rs2082723314
NM_182961.4(SYNE1):c.21011A>G (p.Gln7004Arg)
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
NM_182961.4(SYNE1):c.21042C>A (p.Ile7014=)
NM_182961.4(SYNE1):c.21058T>G (p.Leu7020Val)
NM_182961.4(SYNE1):c.21090T>G (p.Asn7030Lys) rs758318901
NM_182961.4(SYNE1):c.21113T>C (p.Phe7038Ser) rs2153509730
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=) rs886061200
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu) rs2098742431
NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)
NM_182961.4(SYNE1):c.21184A>C (p.Lys7062Gln) rs771203839
NM_182961.4(SYNE1):c.21187G>C (p.Asp7063His) rs1267961945
NM_182961.4(SYNE1):c.21193C>G (p.Gln7065Glu) rs2153509038
NM_182961.4(SYNE1):c.21195+17G>A
NM_182961.4(SYNE1):c.21221A>G (p.Lys7074Arg) rs749981989
NM_182961.4(SYNE1):c.21235G>C (p.Glu7079Gln) rs2081454702
NM_182961.4(SYNE1):c.2123G>A (p.Arg708Lys)
NM_182961.4(SYNE1):c.21251A>G (p.Asn7084Ser)
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser) rs1321824454
NM_182961.4(SYNE1):c.21271A>T (p.Asn7091Tyr) rs777618601
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg) rs2081442642
NM_182961.4(SYNE1):c.21317A>T (p.Glu7106Val) rs2153485074
NM_182961.4(SYNE1):c.21351+14C>T rs2081426061
NM_182961.4(SYNE1):c.21351+4A>G rs2081431126
NM_182961.4(SYNE1):c.21370C>G (p.Leu7124Val)
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met) rs775691059
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe) rs776459203
NM_182961.4(SYNE1):c.21445G>A (p.Ala7149Thr)
NM_182961.4(SYNE1):c.21464G>A (p.Arg7155Gln)
NM_182961.4(SYNE1):c.21468C>G (p.Phe7156Leu)
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr) rs369355230
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=) rs1427603497
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp) rs886061199
NM_182961.4(SYNE1):c.21522+6del
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His) rs886061198
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys) rs780059512
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr) rs794727041
NM_182961.4(SYNE1):c.21685G>A (p.Glu7229Lys)
NM_182961.4(SYNE1):c.21694C>G (p.Gln7232Glu)
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=) rs886061197
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe) rs775870306
NM_182961.4(SYNE1):c.21826G>A (p.Asp7276Asn)
NM_182961.4(SYNE1):c.21832G>A (p.Glu7278Lys)
NM_182961.4(SYNE1):c.2186A>G (p.Lys729Arg) rs2098742034
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp) rs1377401737
NM_182961.4(SYNE1):c.218A>C (p.Gln73Pro) rs2154353751
NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)
NM_182961.4(SYNE1):c.21911A>G (p.His7304Arg) rs557878312
NM_182961.4(SYNE1):c.21936A>T (p.Gln7312His) rs968163245
NM_182961.4(SYNE1):c.21961G>A (p.Ala7321Thr)
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
NM_182961.4(SYNE1):c.21978A>C (p.Gln7326His)
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His) rs756758310
NM_182961.4(SYNE1):c.21986T>C (p.Leu7329Ser) rs2079440770
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile) rs1588081530
NM_182961.4(SYNE1):c.22009G>C (p.Glu7337Gln)
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg) rs886061215
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu) rs2079430530
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
NM_182961.4(SYNE1):c.22044+9C>T rs774609945
NM_182961.4(SYNE1):c.2204T>C (p.Leu735Ser)
NM_182961.4(SYNE1):c.22054C>A (p.Leu7352Ile) rs1199232781
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His) rs944485518
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
NM_182961.4(SYNE1):c.2209G>A (p.Val737Ile) rs2154266865
NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)
NM_182961.4(SYNE1):c.22106T>C (p.Val7369Ala)
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val) rs1588067419
NM_182961.4(SYNE1):c.22135G>A (p.Asp7379Asn)
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn) rs886043280
NM_182961.4(SYNE1):c.22154A>T (p.Asp7385Val) rs2153454164
NM_182961.4(SYNE1):c.22191+4A>G rs2153454005
NM_182961.4(SYNE1):c.22192-14A>G
NM_182961.4(SYNE1):c.22200G>A (p.Met7400Ile)
NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile) rs778036632
NM_182961.4(SYNE1):c.22241A>G (p.Asn7414Ser) rs760439015
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp) rs767375107
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys) rs554483231
NM_182961.4(SYNE1):c.22320CTC[1] (p.Ser7442del) rs756712103
NM_182961.4(SYNE1):c.22346+6G>A
NM_182961.4(SYNE1):c.22362T>A (p.Phe7454Leu) rs371289584
NM_182961.4(SYNE1):c.22377G>T (p.Gln7459His)
NM_182961.4(SYNE1):c.22433A>C (p.Lys7478Thr)
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly) rs1587952687
NM_182961.4(SYNE1):c.22479G>T (p.Gln7493His)
NM_182961.4(SYNE1):c.22491C>G (p.His7497Gln)
NM_182961.4(SYNE1):c.22494+4A>G
NM_182961.4(SYNE1):c.22494G>A (p.Glu7498=)
NM_182961.4(SYNE1):c.225+5G>C rs1594697066
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val) rs963496863
NM_182961.4(SYNE1):c.22561C>A (p.Leu7521Ile)
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile) rs1554568810
NM_182961.4(SYNE1):c.22582G>A (p.Asp7528Asn)
NM_182961.4(SYNE1):c.22589+4G>A
NM_182961.4(SYNE1):c.22589+4G>T rs563408259
NM_182961.4(SYNE1):c.22590-3T>C rs1400330082
NM_182961.4(SYNE1):c.22592A>T (p.Asp7531Val) rs2153409793
NM_182961.4(SYNE1):c.22664G>A (p.Arg7555Gln)
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe) rs760818352
NM_182961.4(SYNE1):c.22673T>C (p.Ile7558Thr)
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His) rs768489386
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala) rs775028308
NM_182961.4(SYNE1):c.22726C>T (p.Arg7576Cys)
NM_182961.4(SYNE1):c.22727G>A (p.Arg7576His)
NM_182961.4(SYNE1):c.22777G>T (p.Val7593Phe) rs2076839550
NM_182961.4(SYNE1):c.22790T>G (p.Leu7597Arg) rs2153408771
NM_182961.4(SYNE1):c.22792C>G (p.Gln7598Glu)
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly) rs2153408610
NM_182961.4(SYNE1):c.22825-3C>A rs2153398590
NM_182961.4(SYNE1):c.22856G>A (p.Gly7619Asp) rs2153398375
NM_182961.4(SYNE1):c.22874T>G (p.Val7625Gly)
NM_182961.4(SYNE1):c.22879G>T (p.Ala7627Ser) rs2153398279
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del) rs1360697609
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val) rs555792275
NM_182961.4(SYNE1):c.22924G>A (p.Ala7642Thr) rs776115026
NM_182961.4(SYNE1):c.22927T>G (p.Leu7643Val)
NM_182961.4(SYNE1):c.22936G>A (p.Glu7646Lys)
NM_182961.4(SYNE1):c.22952A>G (p.Gln7651Arg) rs993798442
NM_182961.4(SYNE1):c.2296A>G (p.Ile766Val)
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr) rs886061214
NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met) rs772452257
NM_182961.4(SYNE1):c.23047G>A (p.Ala7683Thr) rs1161832578
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu) rs1201437684
NM_182961.4(SYNE1):c.23059G>C (p.Glu7687Gln) rs768705708
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr) rs767407271
NM_182961.4(SYNE1):c.23093A>G (p.Gln7698Arg) rs1452755990
NM_182961.4(SYNE1):c.23131C>A (p.Gln7711Lys)
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr) rs886061195
NM_182961.4(SYNE1):c.23170T>C (p.Trp7724Arg)
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg) rs1554518143
NM_182961.4(SYNE1):c.23222A>C (p.Tyr7741Ser)
NM_182961.4(SYNE1):c.23222A>T (p.Tyr7741Phe)
NM_182961.4(SYNE1):c.23234A>G (p.Asp7745Gly)
NM_182961.4(SYNE1):c.23242T>A (p.Ser7748Thr) rs2153229567
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys) rs138747167
NM_182961.4(SYNE1):c.23296C>T (p.His7766Tyr) rs886043037
NM_182961.4(SYNE1):c.2330_2353dup (p.Glu784_Met785insSerProGlnGluGluGlyLysGlu)
NM_182961.4(SYNE1):c.23327G>A (p.Gly7776Asp)
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val) rs200800604
NM_182961.4(SYNE1):c.23374C>T (p.Leu7792Phe)
NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)
NM_182961.4(SYNE1):c.23407G>A (p.Val7803Ile)
NM_182961.4(SYNE1):c.23419G>A (p.Gly7807Arg) rs2067600593
NM_182961.4(SYNE1):c.23470G>A (p.Glu7824Lys)
NM_182961.4(SYNE1):c.23548A>T (p.Ser7850Cys) rs2066481563
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp) rs894257787
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys) rs1593187196
NM_182961.4(SYNE1):c.2360C>T (p.Ala787Val) rs147406318
NM_182961.4(SYNE1):c.23617A>C (p.Ile7873Leu)
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr) rs1331488136
NM_182961.4(SYNE1):c.23635A>G (p.Lys7879Glu) rs2153026780
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg) rs2063159798
NM_182961.4(SYNE1):c.2367G>C (p.Met789Ile)
NM_182961.4(SYNE1):c.23681T>C (p.Met7894Thr)
NM_182961.4(SYNE1):c.23685C>A (p.Ser7895Arg) rs192734406
NM_182961.4(SYNE1):c.23694G>T (p.Arg7898Ser) rs1028548586
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile) rs757122298
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala) rs2063146847
NM_182961.4(SYNE1):c.23717C>T (p.Ser7906Leu) rs2153025842
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr) rs2153025589
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala) rs746086003
NM_182961.4(SYNE1):c.23779A>C (p.Asn7927His) rs2063133832
NM_182961.4(SYNE1):c.23791-6C>G
NM_182961.4(SYNE1):c.23815C>T (p.His7939Tyr)
NM_182961.4(SYNE1):c.23824G>A (p.Gly7942Ser)
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=) rs886061194
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys) rs1554441768
NM_182961.4(SYNE1):c.23905A>G (p.Ile7969Val) rs766732148
NM_182961.4(SYNE1):c.23914G>A (p.Ala7972Thr) rs1000667542
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg) rs1586408465
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met) rs757366114
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
NM_182961.4(SYNE1):c.2404T>C (p.Cys802Arg) rs2098714288
NM_182961.4(SYNE1):c.2405G>A (p.Cys802Tyr)
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala) rs2061108490
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=) rs2061105872
NM_182961.4(SYNE1):c.24120G>C (p.Lys8040Asn) rs2152941881
NM_182961.4(SYNE1):c.24122A>C (p.Lys8041Thr) rs2152941858
NM_182961.4(SYNE1):c.24130-3T>C
NM_182961.4(SYNE1):c.24160A>T (p.Thr8054Ser)
NM_182961.4(SYNE1):c.24191G>T (p.Arg8064Leu)
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His) rs201956180
NM_182961.4(SYNE1):c.24232C>G (p.Leu8078Val)
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=) rs886061193
NM_182961.4(SYNE1):c.24263G>A (p.Arg8088Lys)
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu) rs1563054108
NM_182961.4(SYNE1):c.24328C>T (p.Arg8110Cys) rs749473816
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser) rs886061192
NM_182961.4(SYNE1):c.2436G>C (p.Gln812His)
NM_182961.4(SYNE1):c.24373A>C (p.Thr8125Pro) rs2152915749
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu) rs2060437692
NM_182961.4(SYNE1):c.24433A>G (p.Lys8145Glu)
NM_182961.4(SYNE1):c.24450+8A>G
NM_182961.4(SYNE1):c.24462G>C (p.Gln8154His)
NM_182961.4(SYNE1):c.2446C>A (p.Pro816Thr) rs2098714101
NM_182961.4(SYNE1):c.2447C>T (p.Pro816Leu)
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp) rs36215251
NM_182961.4(SYNE1):c.24497T>C (p.Ile8166Thr) rs201904925
NM_182961.4(SYNE1):c.24503C>A (p.Ala8168Asp) rs1297857077
NM_182961.4(SYNE1):c.24551T>C (p.Ile8184Thr) rs1344598258
NM_182961.4(SYNE1):c.24555C>G (p.Ile8185Met) rs201799566
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24664C>G (p.Leu8222Val) rs2152881730
NM_182961.4(SYNE1):c.24673A>G (p.Arg8225Gly) rs759109611
NM_182961.4(SYNE1):c.24675G>T (p.Arg8225Ser)
NM_182961.4(SYNE1):c.24679C>A (p.Leu8227Met)
NM_182961.4(SYNE1):c.24683A>G (p.Glu8228Gly)
NM_182961.4(SYNE1):c.24694T>C (p.Ser8232Pro)
NM_182961.4(SYNE1):c.24707C>T (p.Ser8236Leu)
NM_182961.4(SYNE1):c.24709G>T (p.Asp8237Tyr) rs2152881229
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala) rs952705892
NM_182961.4(SYNE1):c.2477C>T (p.Ser826Phe)
NM_182961.4(SYNE1):c.24805C>T (p.Arg8269Trp)
NM_182961.4(SYNE1):c.24806G>A (p.Arg8269Gln)
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu) rs148367376
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met) rs200663180
NM_182961.4(SYNE1):c.24837C>G (p.Asp8279Glu)
NM_182961.4(SYNE1):c.24875G>A (p.Ser8292Asn) rs754883031
NM_182961.4(SYNE1):c.24892G>A (p.Ala8298Thr)
NM_182961.4(SYNE1):c.24929G>A (p.Gly8310Asp) rs1253089660
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe) rs1554420700
NM_182961.4(SYNE1):c.24989C>T (p.Ala8330Val)
NM_182961.4(SYNE1):c.24992T>C (p.Leu8331Pro) rs532387179
NM_182961.4(SYNE1):c.25014_25015delinsCT (p.Gly8339Cys) rs2152832436
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
NM_182961.4(SYNE1):c.25037_25038delinsTC (p.Arg8346Leu)
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu) rs886044213
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His) rs766534980
NM_182961.4(SYNE1):c.25091C>G (p.Pro8364Arg)
NM_182961.4(SYNE1):c.25115G>T (p.Gly8372Val)
NM_182961.4(SYNE1):c.25120-3C>T rs749447242
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25139G>T (p.Cys8380Phe)
NM_182961.4(SYNE1):c.25150A>G (p.Ile8384Val) rs1421570389
NM_182961.4(SYNE1):c.25151T>C (p.Ile8384Thr)
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr) rs1466825112
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25192GAG[1] (p.Glu8399del)
NM_182961.4(SYNE1):c.25193A>G (p.Glu8398Gly) rs2152810960
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn) rs769976238
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile) rs769976238
NM_182961.4(SYNE1):c.25231G>C (p.Glu8411Gln) rs371211999
NM_182961.4(SYNE1):c.25234A>G (p.Thr8412Ala)
NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln) rs556231915
NM_182961.4(SYNE1):c.25267C>T (p.Leu8423Phe)
NM_182961.4(SYNE1):c.25375A>C (p.Thr8459Pro) rs754937504
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
NM_182961.4(SYNE1):c.25386G>C (p.Glu8462Asp)
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys) rs754577367
NM_182961.4(SYNE1):c.25439T>A (p.Leu8480His) rs2152799197
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His) rs886061191
NM_182961.4(SYNE1):c.25498C>G (p.Leu8500Val)
NM_182961.4(SYNE1):c.25504A>G (p.Ile8502Val) rs2057180997
NM_182961.4(SYNE1):c.25528A>C (p.Thr8510Pro)
NM_182961.4(SYNE1):c.25529C>T (p.Thr8510Ile) rs1404247560
NM_182961.4(SYNE1):c.25589G>A (p.Arg8530His)
NM_182961.4(SYNE1):c.25591T>A (p.Trp8531Arg)
NM_182961.4(SYNE1):c.25598G>A (p.Arg8533Gln) rs1420121296
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
NM_182961.4(SYNE1):c.25634T>G (p.Leu8545Arg)
NM_182961.4(SYNE1):c.25679A>G (p.His8560Arg) rs1164254591
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val) rs1260198851
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.25747C>G (p.Leu8583Val)
NM_182961.4(SYNE1):c.25750G>A (p.Asp8584Asn)
NM_182961.4(SYNE1):c.25751A>G (p.Asp8584Gly)
NM_182961.4(SYNE1):c.25756G>A (p.Glu8586Lys)
NM_182961.4(SYNE1):c.25776C>A (p.His8592Gln) rs544950546
NM_182961.4(SYNE1):c.25788+6A>G
NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)
NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)
NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro) rs2152720317
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His) rs756313747
NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)
NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)
NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)
NM_182961.4(SYNE1):c.2591A>G (p.Asn864Ser) rs13210845
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser) rs1192925822
NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr) rs1554376325
NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu) rs2152705585
NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)
NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)
NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)
NM_182961.4(SYNE1):c.26153+6T>C
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe) rs1585315718
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) rs1554349162
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu) rs2295192
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) rs1258213221
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del) rs1310428962
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val) rs983040762
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu) rs2051624339
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys) rs567376316
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser) rs754932611
NM_182961.4(SYNE1):c.2684C>G (p.Thr895Arg) rs373633207
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met) rs373633207
NM_182961.4(SYNE1):c.2688G>C (p.Arg896Ser)
NM_182961.4(SYNE1):c.2728-14T>C
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys) rs141214076
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val) rs756151309
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr) rs746476950
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
NM_182961.4(SYNE1):c.2798A>G (p.Glu933Gly) rs2098689694
NM_182961.4(SYNE1):c.2810C>A (p.Ala937Glu)
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
NM_182961.4(SYNE1):c.2821A>G (p.Lys941Glu) rs2154257288
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
NM_182961.4(SYNE1):c.2846G>A (p.Gly949Asp)
NM_182961.4(SYNE1):c.2869G>C (p.Glu957Gln) rs2154257153
NM_182961.4(SYNE1):c.2974C>A (p.Gln992Lys)
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro) rs1564137172
NM_182961.4(SYNE1):c.2998G>A (p.Ala1000Thr) rs771446969
NM_182961.4(SYNE1):c.299A>C (p.Glu100Ala)
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=) rs2098645628
NM_182961.4(SYNE1):c.3077T>C (p.Val1026Ala) rs776586157
NM_182961.4(SYNE1):c.3083A>G (p.Lys1028Arg) rs369619658
NM_182961.4(SYNE1):c.309+3A>G rs2099133351
NM_182961.4(SYNE1):c.309+5G>C rs2154348308
NM_182961.4(SYNE1):c.3090G>T (p.Arg1030Ser) rs925892033
NM_182961.4(SYNE1):c.310-482C>T rs561359644
NM_182961.4(SYNE1):c.310-7T>A rs1341089745
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys) rs545152377
NM_182961.4(SYNE1):c.3180G>C (p.Glu1060Asp)
NM_182961.4(SYNE1):c.3208C>A (p.Pro1070Thr)
NM_182961.4(SYNE1):c.3211C>T (p.His1071Tyr)
NM_182961.4(SYNE1):c.3217C>T (p.Leu1073Phe)
NM_182961.4(SYNE1):c.3230G>C (p.Arg1077Thr)
NM_182961.4(SYNE1):c.3230G>T (p.Arg1077Met)
NM_182961.4(SYNE1):c.323A>G (p.Asn108Ser)
NM_182961.4(SYNE1):c.3254G>A (p.Cys1085Tyr)
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met) rs1592962615
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe) rs2098641244
NM_182961.4(SYNE1):c.3304C>T (p.His1102Tyr) rs2098640852
NM_182961.4(SYNE1):c.3319_3320delinsAT (p.Glu1107Met)
NM_182961.4(SYNE1):c.3321G>T (p.Glu1107Asp) rs2154250248
NM_182961.4(SYNE1):c.3341G>A (p.Ser1114Asn) rs377684975
NM_182961.4(SYNE1):c.3376T>C (p.Trp1126Arg)
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser) rs1194769025
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly) rs886044019
NM_182961.4(SYNE1):c.3419T>C (p.Ile1140Thr) rs1352916426
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu) rs1592939078
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu) rs201354687
NM_182961.4(SYNE1):c.3504+5G>C rs1398879746
NM_182961.4(SYNE1):c.3549G>T (p.Trp1183Cys) rs2098603484
NM_182961.4(SYNE1):c.3556T>C (p.Ser1186Pro)
NM_182961.4(SYNE1):c.3630A>T (p.Leu1210Phe)
NM_182961.4(SYNE1):c.3649C>A (p.Leu1217Ile) rs2154244956
NM_182961.4(SYNE1):c.3650T>C (p.Leu1217Pro)
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.3720A>G (p.Ile1240Met)
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=) rs1041302788
NM_182961.4(SYNE1):c.3736G>C (p.Glu1246Gln)
NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys) rs775456029
NM_182961.4(SYNE1):c.3769G>A (p.Glu1257Lys)
NM_182961.4(SYNE1):c.3772C>A (p.Gln1258Lys)
NM_182961.4(SYNE1):c.3803T>A (p.Leu1268Gln) rs2154239333
NM_182961.4(SYNE1):c.3869G>C (p.Arg1290Thr)
NM_182961.4(SYNE1):c.3873T>G (p.Asp1291Glu)
NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly) rs2099690291
NM_182961.4(SYNE1):c.3911G>T (p.Gly1304Val)
NM_182961.4(SYNE1):c.3913G>A (p.Gly1305Arg) rs1350747356
NM_182961.4(SYNE1):c.3914G>T (p.Gly1305Val)
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro) rs1417438989
NM_182961.4(SYNE1):c.3926G>C (p.Arg1309Pro)
NM_182961.4(SYNE1):c.3956G>A (p.Ser1319Asn)
NM_182961.4(SYNE1):c.3958A>G (p.Thr1320Ala)
NM_182961.4(SYNE1):c.3971T>G (p.Leu1324Arg) rs911005692
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His) rs371842938
NM_182961.4(SYNE1):c.3977G>T (p.Arg1326Leu) rs371842938
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp) rs1465224604
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
NM_182961.4(SYNE1):c.4008+5G>T rs1350714036
NM_182961.4(SYNE1):c.403-10T>G rs886061219
NM_182961.4(SYNE1):c.4063T>C (p.Tyr1355His)
NM_182961.4(SYNE1):c.4103G>C (p.Ser1368Thr) rs998116525
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn) rs1554707111
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro) rs1554696981
NM_182961.4(SYNE1):c.4163G>A (p.Arg1388Gln)
NM_182961.4(SYNE1):c.4183C>A (p.Gln1395Lys) rs2098471423
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln) rs149918889
NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
NM_182961.4(SYNE1):c.4292A>G (p.Glu1431Gly) rs779044367
NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys) rs139798419
NM_182961.4(SYNE1):c.4313T>A (p.Ile1438Asn) rs886044260
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
NM_182961.4(SYNE1):c.4373T>C (p.Leu1458Pro) rs2154210873
NM_182961.4(SYNE1):c.4378G>C (p.Val1460Leu)
NM_182961.4(SYNE1):c.4378G>T (p.Val1460Phe)
NM_182961.4(SYNE1):c.4388C>G (p.Thr1463Ser) rs2154210826
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr) rs1350630909
NM_182961.4(SYNE1):c.4444C>G (p.Gln1482Glu)
NM_182961.4(SYNE1):c.4449C>G (p.Ile1483Met)
NM_182961.4(SYNE1):c.4461+6C>T rs776194459
NM_182961.4(SYNE1):c.4462G>A (p.Val1488Ile) rs2154201681
NM_182961.4(SYNE1):c.4523_4524insTCA (p.Ala1507_Gln1508insHis) rs2098420279
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu) rs1554687302
NM_182961.4(SYNE1):c.4535A>G (p.Gln1512Arg) rs141597053
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4603G>A (p.Glu1535Lys) rs1209224800
NM_182961.4(SYNE1):c.4619C>A (p.Ala1540Glu) rs1187109031
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr) rs1487588055
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln) rs1295935097
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His) rs144533000
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val) rs1554686616
NM_182961.4(SYNE1):c.4680C>A (p.Asn1560Lys)
NM_182961.4(SYNE1):c.4695G>T (p.Gln1565His) rs2154201077
NM_182961.4(SYNE1):c.4703T>C (p.Val1568Ala) rs2154201070
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu) rs2098415660
NM_182961.4(SYNE1):c.4744T>A (p.Cys1582Ser) rs1394715779
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala) rs749571011
NM_182961.4(SYNE1):c.4765T>C (p.Tyr1589His)
NM_182961.4(SYNE1):c.4787T>A (p.Met1596Lys)
NM_182961.4(SYNE1):c.4789-3T>C rs1228194784
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser) rs886061218
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly) rs566004273
NM_182961.4(SYNE1):c.4892C>T (p.Ala1631Val) rs1268913905
NM_182961.4(SYNE1):c.4909G>C (p.Glu1637Gln)
NM_182961.4(SYNE1):c.4928C>G (p.Ala1643Gly)
NM_182961.4(SYNE1):c.4981G>A (p.Glu1661Lys) rs2154197911
NM_182961.4(SYNE1):c.5018G>C (p.Arg1673Pro) rs749115727
NM_182961.4(SYNE1):c.5026G>T (p.Ala1676Ser)
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.509G>T (p.Arg170Leu) rs779239788
NM_182961.4(SYNE1):c.5105T>C (p.Leu1702Pro)
NM_182961.4(SYNE1):c.5138A>T (p.Tyr1713Phe) rs2098338003
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val) rs202081505
NM_182961.4(SYNE1):c.514G>T (p.Val172Leu)
NM_182961.4(SYNE1):c.5163A>C (p.Glu1721Asp)
NM_182961.4(SYNE1):c.5165C>T (p.Ser1722Leu)
NM_182961.4(SYNE1):c.521C>G (p.Thr174Ser)
NM_182961.4(SYNE1):c.5260A>G (p.Asn1754Asp) rs2154194638
NM_182961.4(SYNE1):c.5287G>A (p.Val1763Met)
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=) rs2098221960
NM_182961.4(SYNE1):c.5414G>A (p.Arg1805Gln) rs749200824
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu) rs1289357494
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp) rs763296949
NM_182961.4(SYNE1):c.5539G>A (p.Glu1847Lys) rs778264930
NM_182961.4(SYNE1):c.553T>C (p.Leu185=) rs2099078168
NM_182961.4(SYNE1):c.554T>C (p.Leu185Ser)
NM_182961.4(SYNE1):c.5563_5564delinsAT (p.Glu1855Met) rs2154182549
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys) rs376693048
NM_182961.4(SYNE1):c.5658G>C (p.Gln1886His) rs1305356670
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly) rs757761843
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg) rs989623011
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr) rs917922270
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly) rs2154182301
NM_182961.4(SYNE1):c.5734G>A (p.Ala1912Thr)
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp) rs555846215
NM_182961.4(SYNE1):c.5798C>T (p.Ala1933Val) rs2154182197
NM_182961.4(SYNE1):c.5809C>A (p.Leu1937Met) rs1384241452
NM_182961.4(SYNE1):c.580A>G (p.Lys194Glu)
NM_182961.4(SYNE1):c.581+3A>T
NM_182961.4(SYNE1):c.581A>G (p.Lys194Arg) rs2099078036
NM_182961.4(SYNE1):c.582-12T>C
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=) rs773819434
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly) rs963256304
NM_182961.4(SYNE1):c.5834G>A (p.Arg1945Lys)
NM_182961.4(SYNE1):c.5848G>A (p.Ala1950Thr)
NM_182961.4(SYNE1):c.5852C>T (p.Thr1951Met)
NM_182961.4(SYNE1):c.5951A>G (p.Gln1984Arg)
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln) rs2098157118
NM_182961.4(SYNE1):c.5966A>G (p.Glu1989Gly) rs762574786
NM_182961.4(SYNE1):c.5981T>C (p.Ile1994Thr)
NM_182961.4(SYNE1):c.5990T>C (p.Ile1997Thr)
NM_182961.4(SYNE1):c.6014G>A (p.Arg2005Gln)
NM_182961.4(SYNE1):c.6014G>T (p.Arg2005Leu)
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro) rs1199419170
NM_182961.4(SYNE1):c.6037G>A (p.Ala2013Thr)
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)
NM_182961.4(SYNE1):c.6145G>A (p.Asp2049Asn) rs774941465
NM_182961.4(SYNE1):c.6157G>T (p.Ala2053Ser) rs2154176994
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu) rs542032376
NM_182961.4(SYNE1):c.6191A>G (p.Glu2064Gly)
NM_182961.4(SYNE1):c.6193G>C (p.Val2065Leu)
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
NM_182961.4(SYNE1):c.6201G>C (p.Trp2067Cys) rs2154176931
NM_182961.4(SYNE1):c.6202G>A (p.Asp2068Asn)
NM_182961.4(SYNE1):c.6231T>G (p.Asn2077Lys) rs2097980458
NM_182961.4(SYNE1):c.6275A>G (p.Gln2092Arg)
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
NM_182961.4(SYNE1):c.6292G>C (p.Val2098Leu)
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile) rs760835706
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
NM_182961.4(SYNE1):c.6349G>T (p.Asp2117Tyr) rs200640405
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
NM_182961.4(SYNE1):c.6370G>T (p.Ala2124Ser)
NM_182961.4(SYNE1):c.6398A>G (p.Asn2133Ser)
NM_182961.4(SYNE1):c.6415C>A (p.Gln2139Lys)
NM_182961.4(SYNE1):c.6421G>T (p.Asp2141Tyr)
NM_182961.4(SYNE1):c.6444A>C (p.Lys2148Asn)
NM_182961.4(SYNE1):c.6461C>T (p.Ser2154Phe)
NM_182961.4(SYNE1):c.6478C>T (p.His2160Tyr)
NM_182961.4(SYNE1):c.647T>C (p.Val216Ala) rs1564513288
NM_182961.4(SYNE1):c.6482G>A (p.Ser2161Asn)
NM_182961.4(SYNE1):c.6526G>A (p.Asp2176Asn)
NM_182961.4(SYNE1):c.6541-12T>A rs2097913765
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly) rs886061211
NM_182961.4(SYNE1):c.658A>C (p.Ile220Leu) rs146053885
NM_182961.4(SYNE1):c.661C>A (p.Arg221=) rs750266004
NM_182961.4(SYNE1):c.6636G>T (p.Trp2212Cys) rs2154165420
NM_182961.4(SYNE1):c.6646T>A (p.Cys2216Ser)
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser) rs2099051828
NM_182961.4(SYNE1):c.6658A>G (p.Met2220Val) rs2097912504
NM_182961.4(SYNE1):c.665C>T (p.Pro222Leu)
NM_182961.4(SYNE1):c.6661G>A (p.Ala2221Thr) rs2154165359
NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)
NM_182961.4(SYNE1):c.6719T>C (p.Phe2240Ser)
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu) rs1374881204
NM_182961.4(SYNE1):c.68-14C>A rs554675581
NM_182961.4(SYNE1):c.6811C>G (p.Pro2271Ala)
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe) rs867285350
NM_182961.4(SYNE1):c.6895C>G (p.Leu2299Val)
NM_182961.4(SYNE1):c.6900G>T (p.Lys2300Asn)
NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)
NM_182961.4(SYNE1):c.6913C>A (p.Gln2305Lys)
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala) rs1384232957
NM_182961.4(SYNE1):c.6937A>G (p.Ile2313Val) rs2154150998
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly) rs1395736433
NM_182961.4(SYNE1):c.6959T>C (p.Phe2320Ser) rs2097810439
NM_182961.4(SYNE1):c.6975A>T (p.Glu2325Asp)
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val) rs1250755900
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr) rs1317403604
NM_182961.4(SYNE1):c.69T>A (p.Asp23Glu) rs1564735123
NM_182961.4(SYNE1):c.7023A>T (p.Lys2341Asn)
NM_182961.4(SYNE1):c.7030-14C>T rs1257361080
NM_182961.4(SYNE1):c.707G>A (p.Arg236Gln)
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser) rs776339735
NM_182961.4(SYNE1):c.7109A>G (p.Tyr2370Cys)
NM_182961.4(SYNE1):c.7141G>T (p.Ala2381Ser) rs766789322
NM_182961.4(SYNE1):c.7156A>T (p.Ile2386Leu)
NM_182961.4(SYNE1):c.7165C>T (p.His2389Tyr)
NM_182961.4(SYNE1):c.7181A>C (p.Gln2394Pro) rs1244195756
NM_182961.4(SYNE1):c.7201G>A (p.Ala2401Thr) rs780924006
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
NM_182961.4(SYNE1):c.7280C>T (p.Ala2427Val) rs2097770762
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly) rs370082646
NM_182961.4(SYNE1):c.7312G>T (p.Asp2438Tyr)
NM_182961.4(SYNE1):c.7334A>C (p.Lys2445Thr) rs2154145830
NM_182961.4(SYNE1):c.7335G>C (p.Lys2445Asn) rs770329883
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe) rs757562714
NM_182961.4(SYNE1):c.7392T>G (p.Asp2464Glu)
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu) rs1384323646
NM_182961.4(SYNE1):c.7406A>G (p.Glu2469Gly) rs371796151
NM_182961.4(SYNE1):c.742A>G (p.Thr248Ala) rs2154331462
NM_182961.4(SYNE1):c.7462C>G (p.Gln2488Glu) rs756083446
NM_182961.4(SYNE1):c.7502A>C (p.Lys2501Thr)
NM_182961.4(SYNE1):c.7550T>A (p.Leu2517His)
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met) rs550027519
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His) rs2097719630
NM_182961.4(SYNE1):c.7666G>A (p.Glu2556Lys) rs2154141021
NM_182961.4(SYNE1):c.7672C>A (p.His2558Asn) rs2097719253
NM_182961.4(SYNE1):c.7685T>C (p.Met2562Thr)
NM_182961.4(SYNE1):c.7709C>G (p.Ala2570Gly)
NM_182961.4(SYNE1):c.7713-11C>T rs201131946
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT rs764324594
NM_182961.4(SYNE1):c.7713-18_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7713-19_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7724A>T (p.Asp2575Val) rs1382595953
NM_182961.4(SYNE1):c.7754G>C (p.Ser2585Thr)
NM_182961.4(SYNE1):c.7778A>T (p.Gln2593Leu) rs761902124
NM_182961.4(SYNE1):c.7781A>G (p.Glu2594Gly) rs1591742558
NM_182961.4(SYNE1):c.7801C>G (p.Leu2601Val)
NM_182961.4(SYNE1):c.7814A>G (p.His2605Arg) rs2097627280
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
NM_182961.4(SYNE1):c.7858C>A (p.Gln2620Lys)
NM_182961.4(SYNE1):c.7870C>G (p.Gln2624Glu)
NM_182961.4(SYNE1):c.7878C>A (p.His2626Gln)
NM_182961.4(SYNE1):c.7885C>G (p.Leu2629Val)
NM_182961.4(SYNE1):c.7946G>C (p.Cys2649Ser)
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys) rs147040672
NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln) rs370644295
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys) rs577888458
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg) rs2154133685
NM_182961.4(SYNE1):c.8005-7_8005-6insA
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val) rs1563634104
NM_182961.4(SYNE1):c.8051C>T (p.Ala2684Val)
NM_182961.4(SYNE1):c.8063G>A (p.Gly2688Glu)
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys) rs766019755
NM_182961.4(SYNE1):c.8065G>C (p.Glu2689Gln)
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro) rs1591716331
NM_182961.4(SYNE1):c.8098C>G (p.Gln2700Glu) rs2097590125
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp) rs886061208
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
NM_182961.4(SYNE1):c.8151C>G (p.Ile2717Met)
NM_182961.4(SYNE1):c.8152A>G (p.Met2718Val) rs765054617
NM_182961.4(SYNE1):c.8204G>T (p.Trp2735Leu)
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly) rs886044469
NM_182961.4(SYNE1):c.821A>G (p.Tyr274Cys) rs2099036274
NM_182961.4(SYNE1):c.8248G>A (p.Glu2750Lys)
NM_182961.4(SYNE1):c.8276C>T (p.Pro2759Leu) rs1438857220
NM_182961.4(SYNE1):c.8285C>A (p.Pro2762Gln)
NM_182961.4(SYNE1):c.8325C>A (p.His2775Gln) rs770073509
NM_182961.4(SYNE1):c.832T>A (p.Phe278Ile)
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly) rs1554878579
NM_182961.4(SYNE1):c.8470A>T (p.Ile2824Leu)
NM_182961.4(SYNE1):c.8487+6T>C rs2097536510
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys) rs577620830
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly) rs757720748
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe) rs2097516831
NM_182961.4(SYNE1):c.8652+3C>T
NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)
NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val) rs1184722528
NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)
NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp) rs576979843
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly) rs372633466
NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys) rs372633466
NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr) rs2154115485
NM_182961.4(SYNE1):c.888+4G>A rs749258298
NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu) rs2097406538
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp) rs570962334
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
NM_182961.4(SYNE1):c.892A>G (p.Ile298Val) rs2154319036
NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)
NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)
NM_182961.4(SYNE1):c.898C>T (p.Pro300Ser)
NM_182961.4(SYNE1):c.9009+5G>T rs1252397404
NM_182961.4(SYNE1):c.9016C>G (p.Leu3006Val)
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr) rs910446340
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val) rs1591451162
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=) rs369163343
NM_182961.4(SYNE1):c.9083G>A (p.Arg3028Gln)
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser) rs1554580101
NM_182961.4(SYNE1):c.9160G>A (p.Ala3054Thr) rs2154103548
NM_182961.4(SYNE1):c.916G>A (p.Ala306Thr)
NM_182961.4(SYNE1):c.9170G>T (p.Gly3057Val) rs761071366
NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)
NM_182961.4(SYNE1):c.9209G>A (p.Arg3070Gln)
NM_182961.4(SYNE1):c.9214G>A (p.Ala3072Thr)
NM_182961.4(SYNE1):c.9250A>G (p.Lys3084Glu) rs1391282600
NM_182961.4(SYNE1):c.9289A>G (p.Ile3097Val) rs2154103329
NM_182961.4(SYNE1):c.9304A>C (p.Thr3102Pro)
NM_182961.4(SYNE1):c.9333G>T (p.Leu3111Phe)
NM_182961.4(SYNE1):c.9337G>C (p.Glu3113Gln) rs2154097171
NM_182961.4(SYNE1):c.9347A>T (p.Asn3116Ile)
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro) rs1563477104
NM_182961.4(SYNE1):c.9382G>A (p.Gly3128Arg)
NM_182961.4(SYNE1):c.9389T>A (p.Leu3130His)
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys) rs138481762
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile) rs1554795128
NM_182961.4(SYNE1):c.9449C>G (p.Ala3150Gly)
NM_182961.4(SYNE1):c.9469T>C (p.Phe3157Leu)
NM_182961.4(SYNE1):c.946G>A (p.Asp316Asn) rs369574011
NM_182961.4(SYNE1):c.9484C>T (p.His3162Tyr)
NM_182961.4(SYNE1):c.9494_9495delinsTG (p.Glu3165Val)
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp) rs6913579
NM_182961.4(SYNE1):c.9514A>G (p.Lys3172Glu) rs2154085901
NM_182961.4(SYNE1):c.9524T>C (p.Met3175Thr)
NM_182961.4(SYNE1):c.9543T>G (p.Ser3181Arg)
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn) rs1057519421
NM_182961.4(SYNE1):c.955A>G (p.Ile319Val)
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile) rs1563437567
NM_182961.4(SYNE1):c.9586G>A (p.Val3196Ile)
NM_182961.4(SYNE1):c.9596G>T (p.Ser3199Ile) rs768692140
NM_182961.4(SYNE1):c.9634G>A (p.Glu3212Lys)
NM_182961.4(SYNE1):c.9634G>C (p.Glu3212Gln) rs751257864
NM_182961.4(SYNE1):c.9649C>A (p.Gln3217Lys) rs2154085638
NM_182961.4(SYNE1):c.9670C>G (p.His3224Asp)
NM_182961.4(SYNE1):c.9676T>C (p.Tyr3226His)
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln) rs1024177161
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser) rs1563432555
NM_182961.4(SYNE1):c.9695G>A (p.Arg3232Lys)
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser) rs753548717
NM_182961.4(SYNE1):c.9746G>A (p.Ser3249Asn) rs886061206
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr) rs886061206
NM_182961.4(SYNE1):c.9821G>A (p.Arg3274Lys) rs2097100149
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly) rs188684213
NM_182961.4(SYNE1):c.9847A>T (p.Asn3283Tyr) rs745707616
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9925C>A (p.Pro3309Thr) rs1247321590
NM_182961.4(SYNE1):c.998A>G (p.Asp333Gly) rs2154300492
NM_198994.3(TGM6):c.-5T>A rs886056550
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp) rs2122375873
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr) rs1265293202
NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys) rs267605859
NM_198994.3(TGM6):c.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.491T>A (p.Ile164Asn)
NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
NM_198994.3(TGM6):c.64A>G (p.Thr22Ala) rs773079291
NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) rs766248910
NM_198994.3(TGM6):c.897del (p.Ser300fs)
NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr) rs748573955
NM_198994.3(TGM6):c.95T>G (p.Val32Gly) rs886056551
Single allele

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