NM_014846.4(WASHC5):c.2770+18_2770+19insG
|
rs11370883
|
0.99994
|
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro)
|
rs1011320
|
0.95640
|
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg)
|
rs2241088
|
0.93443
|
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=)
|
rs273269
|
0.85598
|
NM_002449.5(MSX2):c.386T>C (p.Met129Thr)
|
rs4242182
|
0.78320
|
NM_001368809.2(AMPD2):c.860+19A>G
|
rs524998
|
0.73896
|
NM_001368809.2(AMPD2):c.1272T>C (p.His424=)
|
rs863978
|
0.70414
|
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)
|
rs6979
|
0.60624
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_015631.6(TCTN3):c.603T>A (p.Thr201=)
|
rs10786229
|
0.35079
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
NM_015631.6(TCTN3):c.500-11A>T
|
rs11188434
|
0.18618
|
NM_014846.4(WASHC5):c.979-20C>T
|
rs12546285
|
0.18463
|
NM_022836.4(DCLRE1B):c.234T>C (p.His78=)
|
rs3761936
|
0.15394
|
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)
|
rs11542889
|
0.14383
|
NM_014846.4(WASHC5):c.187-3C>T
|
rs16900368
|
0.13363
|
NM_014846.4(WASHC5):c.417+11A>G
|
rs2384917
|
0.13320
|
NM_001082486.2(ACD):c.1298+20C>A
|
rs67114979
|
0.13128
|
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)
|
rs28362581
|
0.13084
|
NM_001082486.2(ACD):c.413+3A>G
|
rs8058187
|
0.12302
|
NM_014846.4(WASHC5):c.1764+12A>G
|
rs3765213
|
0.11313
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro)
|
rs11553577
|
0.10199
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
NM_005027.4(PIK3R2):c.700= (p.Ser234=)
|
rs2241088
|
0.06557
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=)
|
rs112813367
|
0.04637
|
NM_005027.4(PIK3R2):c.937= (p.Ser313=)
|
rs1011320
|
0.04360
|
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr)
|
rs149081991
|
0.03942
|
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=)
|
rs28730848
|
0.03689
|
NM_001082486.2(ACD):c.1371G>T (p.Pro457=)
|
rs14920
|
0.03535
|
NM_014846.4(WASHC5):c.186+17G>A
|
rs59134934
|
0.03280
|
NC_000016.10:g.67660703A>G
|
rs72547496
|
0.03001
|
NM_014846.4(WASHC5):c.1408+7A>G
|
rs16900312
|
0.02845
|
NM_014846.4(WASHC5):c.1151-8G>A
|
rs16900335
|
0.02839
|
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)
|
rs10429323
|
0.02837
|
NM_001368809.2(AMPD2):c.1984-19C>T
|
rs75276578
|
0.02404
|
NM_014846.4(WASHC5):c.597A>G (p.Pro199=)
|
rs7812319
|
0.02380
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)
|
rs34030799
|
0.01484
|
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn)
|
rs28381079
|
0.01483
|
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser)
|
rs55859130
|
0.01420
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01390
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)
|
rs115739052
|
0.01305
|
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=)
|
rs116321373
|
0.01259
|
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=)
|
rs147625988
|
0.00840
|
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=)
|
rs201655779
|
0.00768
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_005027.4(PIK3R2):c.1736+12C>T
|
rs112411913
|
0.00759
|
NM_001368809.2(AMPD2):c.223-4C>T
|
rs116223306
|
0.00736
|
NM_005027.4(PIK3R2):c.415+18dup
|
rs200295171
|
0.00686
|
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)
|
rs147189192
|
0.00679
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_001082486.1(ACD):c.162C>T (p.Pro54=)
|
rs73597595
|
0.00544
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
NM_001082486.2(ACD):c.1207-10C>T
|
rs67185288
|
0.00536
|
NM_001082486.2(ACD):c.801C>T (p.Ala267=)
|
rs72549181
|
0.00530
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_014846.4(WASHC5):c.867A>C (p.Val289=)
|
rs79464415
|
0.00491
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_001082486.2(ACD):c.494-20C>T
|
rs59443695
|
0.00465
|
NM_005027.4(PIK3R2):c.1560-17C>T
|
rs183117011
|
0.00461
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser)
|
rs143873873
|
0.00450
|
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)
|
rs141088838
|
0.00423
|
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)
|
rs41291570
|
0.00421
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
NM_002601.4(PDE6D):c.371+8A>C
|
rs75242814
|
0.00367
|
NM_014846.4(WASHC5):c.2100G>A (p.Val700=)
|
rs148936723
|
0.00357
|
NM_005465.7(AKT3):c.1416C>G (p.Ser472=)
|
rs148332912
|
0.00352
|
NM_015631.6(TCTN3):c.21G>A (p.Ala7=)
|
rs61737888
|
0.00320
|
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)
|
rs114727970
|
0.00316
|
NM_001368809.2(AMPD2):c.1407+3A>G
|
rs41280332
|
0.00312
|
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)
|
rs116415979
|
0.00302
|
NM_001082486.2(ACD):c.819C>T (p.Pro273=)
|
rs138740815
|
0.00251
|
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)
|
rs201370957
|
0.00242
|
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val)
|
rs10413655
|
0.00240
|
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser)
|
rs150026441
|
0.00235
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn)
|
rs146510084
|
0.00224
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001044385.3(TMEM237):c.554-15G>A
|
rs144051344
|
0.00213
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
NM_001044385.3(TMEM237):c.396-14C>T
|
rs74411816
|
0.00210
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=)
|
rs144843243
|
0.00192
|
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)
|
rs114624650
|
0.00189
|
NM_001082486.2(ACD):c.1336C>T (p.Leu446=)
|
rs1050346
|
0.00188
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val)
|
rs182008317
|
0.00181
|
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn)
|
rs142298615
|
0.00181
|
NM_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu)
|
rs186119649
|
0.00179
|
NM_001077418.3(TMEM231):c.-40C>G
|
rs114889548
|
0.00177
|
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)
|
rs201036290
|
0.00177
|
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)
|
rs62640004
|
0.00177
|
NM_001368809.2(AMPD2):c.1984-15C>G
|
rs368592941
|
0.00168
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)
|
rs35337955
|
0.00159
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_001368809.2(AMPD2):c.1276-20A>G
|
rs140464475
|
0.00149
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_005465.7(AKT3):c.1359T>C (p.Asp453=)
|
rs142844303
|
0.00141
|
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)
|
rs146210288
|
0.00138
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
NM_005027.4(PIK3R2):c.1416+11C>T
|
rs140187437
|
0.00133
|
NM_001077418.3(TMEM231):c.583-20A>T
|
rs375984875
|
0.00128
|
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)
|
rs80242901
|
0.00128
|
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys)
|
rs143719918
|
0.00127
|
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys)
|
rs145569979
|
0.00127
|
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr)
|
rs35397235
|
0.00126
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_015631.6(TCTN3):c.1591-5C>T
|
rs181107730
|
0.00109
|
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=)
|
rs112859649
|
0.00108
|
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln)
|
rs202165114
|
0.00108
|
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)
|
rs201181950
|
0.00105
|
NM_001082486.2(ACD):c.132C>T (p.Gly44=)
|
rs138527794
|
0.00102
|
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=)
|
rs114463063
|
0.00101
|
NM_005027.4(PIK3R2):c.696G>A (p.Val232=)
|
rs571661207
|
0.00101
|
NM_014846.4(WASHC5):c.2199+5C>G
|
rs149763012
|
0.00100
|
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)
|
rs139438549
|
0.00098
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
|
rs72720524
|
0.00098
|
NM_002449.5(MSX2):c.117C>T (p.Arg39=)
|
rs376630472
|
0.00097
|
NM_001082486.2(ACD):c.444C>T (p.Leu148=)
|
rs151132164
|
0.00096
|
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys)
|
rs558127851
|
0.00095
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
NM_001368809.2(AMPD2):c.1408-12C>T
|
rs189047791
|
0.00090
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
NM_001368809.2(AMPD2):c.1699-11T>C
|
rs188035528
|
0.00087
|
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg)
|
rs142423043
|
0.00086
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=)
|
rs140523354
|
0.00083
|
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser)
|
rs142933317
|
0.00080
|
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=)
|
rs143654828
|
0.00080
|
NM_002601.4(PDE6D):c.140-3C>T
|
rs368073853
|
0.00079
|
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=)
|
rs146987351
|
0.00079
|
NM_014846.4(WASHC5):c.732G>A (p.Pro244=)
|
rs146320386
|
0.00079
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)
|
rs116313397
|
0.00077
|
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)
|
rs151163650
|
0.00076
|
NM_005027.4(PIK3R2):c.1416+15G>A
|
rs202218011
|
0.00076
|
NM_015631.6(TCTN3):c.500-6T>C
|
rs201444392
|
0.00076
|
NM_014846.4(WASHC5):c.3181+4C>T
|
rs372154199
|
0.00073
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
NM_015631.6(TCTN3):c.1764C>T (p.Val588=)
|
rs137856303
|
0.00071
|
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)
|
rs147568068
|
0.00068
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=)
|
rs144543830
|
0.00065
|
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val)
|
rs202130417
|
0.00063
|
NM_015631.6(TCTN3):c.280T>C (p.Leu94=)
|
rs367982164
|
0.00062
|
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)
|
rs149583035
|
0.00061
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_016464.5(TMEM138):c.461G>A (p.Arg154His)
|
rs147966742
|
0.00059
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_016464.5(TMEM138):c.102T>A (p.Thr34=)
|
rs139387935
|
0.00056
|
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys)
|
rs147990742
|
0.00055
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val)
|
rs142907217
|
0.00053
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=)
|
rs140686003
|
0.00052
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_005465.7(AKT3):c.285-13C>T
|
rs201603638
|
0.00051
|
NM_001368809.2(AMPD2):c.270G>T (p.Pro90=)
|
rs139217835
|
0.00048
|
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu)
|
rs201029925
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=)
|
rs143163487
|
0.00045
|
NM_001082486.2(ACD):c.46C>A (p.Leu16Met)
|
rs200365807
|
0.00044
|
NM_001082486.2(ACD):c.645+17G>A
|
rs148412951
|
0.00044
|
NM_005465.7(AKT3):c.807C>T (p.Tyr269=)
|
rs150205993
|
0.00044
|
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=)
|
rs147510873
|
0.00043
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=)
|
rs144640614
|
0.00042
|
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=)
|
rs370010097
|
0.00041
|
NM_001077418.3(TMEM231):c.309+13C>A
|
rs146945255
|
0.00041
|
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=)
|
rs201900751
|
0.00041
|
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)
|
rs145850728
|
0.00041
|
NM_005027.4(PIK3R2):c.1809-17A>G
|
rs199501065
|
0.00040
|
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)
|
rs371709760
|
0.00039
|
NM_001368809.2(AMPD2):c.1081-8C>A
|
rs145268448
|
0.00039
|
NM_005465.7(AKT3):c.792C>T (p.Ser264=)
|
rs77764554
|
0.00039
|
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=)
|
rs150579201
|
0.00039
|
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=)
|
rs200330629
|
0.00039
|
NM_014846.4(WASHC5):c.2668-19C>T
|
rs368313044
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_005027.4(PIK3R2):c.657G>A (p.Ala219=)
|
rs772272053
|
0.00037
|
NM_001082486.2(ACD):c.99+18G>A
|
rs369046068
|
0.00036
|
NM_005027.4(PIK3R2):c.323-15del
|
rs573541270
|
0.00036
|
NM_005465.7(AKT3):c.46+12G>A
|
rs184404650
|
0.00036
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001368809.2(AMPD2):c.1699-12G>T
|
rs372637186
|
0.00034
|
NM_001368809.2(AMPD2):c.633C>G (p.Thr211=)
|
rs141818976
|
0.00034
|
NM_002601.4(PDE6D):c.258C>T (p.Cys86=)
|
rs151191604
|
0.00034
|
NM_005465.7(AKT3):c.1163+17G>A
|
rs367951410
|
0.00034
|
NM_001044385.3(TMEM237):c.554-10G>A
|
rs371503069
|
0.00033
|
NM_001368809.2(AMPD2):c.1080+15C>T
|
rs183445342
|
0.00033
|
NM_001368809.2(AMPD2):c.532-18G>A
|
rs41314005
|
0.00032
|
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)
|
rs199624987
|
0.00031
|
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)
|
rs142662151
|
0.00031
|
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)
|
rs202104741
|
0.00031
|
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=)
|
rs147146700
|
0.00031
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=)
|
rs749028997
|
0.00031
|
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His)
|
rs367971686
|
0.00031
|
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=)
|
rs34474203
|
0.00031
|
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His)
|
rs143568469
|
0.00031
|
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)
|
rs370418884
|
0.00030
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
NM_003384.3(VRK1):c.183A>C (p.Ser61=)
|
rs150196318
|
0.00029
|
NM_005027.4(PIK3R2):c.1104C>T (p.Thr368=)
|
rs551874555
|
0.00029
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
NM_018718.3(CEP41):c.423-18C>A
|
rs371925259
|
0.00029
|
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln)
|
rs762238231
|
0.00028
|
NM_014846.4(WASHC5):c.12T>C (p.Phe4=)
|
rs202120400
|
0.00028
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_001044385.3(TMEM237):c.944-16T>C
|
rs369720243
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)
|
rs570605098
|
0.00026
|
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val)
|
rs140103426
|
0.00026
|
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr)
|
rs200178501
|
0.00025
|
NM_005027.4(PIK3R2):c.323-16_323-15del
|
rs374033727
|
0.00025
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
NM_001077418.3(TMEM231):c.139+42G>A
|
rs375718217
|
0.00024
|
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)
|
rs199776253
|
0.00024
|
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=)
|
rs371970036
|
0.00024
|
NM_005027.4(PIK3R2):c.1559+12G>A
|
rs142415492
|
0.00024
|
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)
|
rs144507279
|
0.00024
|
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)
|
rs749447795
|
0.00024
|
NM_016464.5(TMEM138):c.128+7G>T
|
rs560650147
|
0.00023
|
NM_015631.6(TCTN3):c.1096-14C>A
|
rs41291568
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu)
|
rs28381069
|
0.00022
|
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg)
|
rs200467447
|
0.00021
|
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=)
|
rs757521991
|
0.00021
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
NM_014846.4(WASHC5):c.2017-13T>C
|
rs74458977
|
0.00021
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_001368809.2(AMPD2):c.2268+10C>T
|
rs368736094
|
0.00020
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_005027.4(PIK3R2):c.902-17G>A
|
rs199796442
|
0.00020
|
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro)
|
rs140411676
|
0.00020
|
NM_001077418.3(TMEM231):c.140-15C>T
|
rs201518524
|
0.00019
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001077418.3(TMEM231):c.438+12C>T
|
rs1000442477
|
0.00019
|
NM_001082486.2(ACD):c.1152G>A (p.Pro384=)
|
rs147116458
|
0.00019
|
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe)
|
rs202133913
|
0.00019
|
NM_005027.4(PIK3R2):c.816-8C>T
|
rs200494626
|
0.00018
|
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)
|
rs141081316
|
0.00018
|
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln)
|
rs146482651
|
0.00018
|
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_015631.6(TCTN3):c.537T>C (p.Asn179=)
|
rs141346992
|
0.00017
|
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met)
|
rs769393520
|
0.00017
|
NM_001044385.3(TMEM237):c.79+8del
|
rs759786234
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=)
|
rs371752653
|
0.00016
|
NM_001082486.2(ACD):c.837G>A (p.Pro279=)
|
rs201965477
|
0.00016
|
NM_001368809.2(AMPD2):c.219C>T (p.Ala73=)
|
rs140683735
|
0.00016
|
NM_001368809.2(AMPD2):c.582C>T (p.Leu194=)
|
rs144177097
|
0.00016
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_003384.3(VRK1):c.810T>C (p.Tyr270=)
|
rs943810223
|
0.00016
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
NM_005027.4(PIK3R2):c.301C>T (p.Arg101Cys)
|
rs187640248
|
0.00016
|
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)
|
rs151298198
|
0.00016
|
NM_014846.4(WASHC5):c.2199+4C>A
|
rs145721086
|
0.00016
|
NM_014846.4(WASHC5):c.555T>C (p.Asp185=)
|
rs145934920
|
0.00016
|
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys)
|
rs888502576
|
0.00016
|
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)
|
rs866563020
|
0.00015
|
NM_001082486.2(ACD):c.846C>T (p.Pro282=)
|
rs199856965
|
0.00015
|
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=)
|
rs141396033
|
0.00015
|
NM_005027.4(PIK3R2):c.1011-19A>G
|
rs373122934
|
0.00015
|
NM_005465.7(AKT3):c.1398G>A (p.Pro466=)
|
rs150573714
|
0.00015
|
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly)
|
rs377047502
|
0.00015
|
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)
|
rs369010440
|
0.00014
|
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser)
|
rs150078051
|
0.00014
|
NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp)
|
rs373128067
|
0.00014
|
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val)
|
rs376516473
|
0.00014
|
NM_018718.3(CEP41):c.757+12G>T
|
rs377656524
|
0.00014
|
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=)
|
rs183344879
|
0.00014
|
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
|
rs149051014
|
0.00013
|
NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=)
|
rs201146203
|
0.00013
|
NM_005027.4(PIK3R2):c.126C>T (p.Gly42=)
|
rs893028434
|
0.00013
|
NM_005027.4(PIK3R2):c.240C>T (p.Pro80=)
|
rs370853734
|
0.00013
|
NM_014846.4(WASHC5):c.405A>G (p.Gly135=)
|
rs529518868
|
0.00013
|
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser)
|
rs149728983
|
0.00013
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_005027.4(PIK3R2):c.706G>A (p.Ala236Thr)
|
rs941281903
|
0.00012
|
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)
|
rs200456170
|
0.00012
|
NM_014846.4(WASHC5):c.187-6T>C
|
rs200227798
|
0.00012
|
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val)
|
rs146623998
|
0.00012
|
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=)
|
rs369339497
|
0.00012
|
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=)
|
rs768137956
|
0.00012
|
NM_015631.6(TCTN3):c.159G>A (p.Ala53=)
|
rs540555381
|
0.00012
|
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg)
|
rs141231095
|
0.00012
|
NM_016464.5(TMEM138):c.414C>T (p.Ala138=)
|
rs151094420
|
0.00012
|
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_001077418.3(TMEM231):c.583-9G>A
|
rs371734111
|
0.00011
|
NM_001368809.2(AMPD2):c.27C>A (p.Gly9=)
|
rs141792341
|
0.00011
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln)
|
rs374448993
|
0.00011
|
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)
|
rs150430170
|
0.00011
|
NM_014846.4(WASHC5):c.2098-13G>A
|
rs375720047
|
0.00011
|
NM_014846.4(WASHC5):c.552C>T (p.Asp184=)
|
rs140203497
|
0.00011
|
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)
|
rs141234822
|
0.00011
|
NM_015631.6(TCTN3):c.1452+16T>C
|
rs779934498
|
0.00011
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
NM_016464.5(TMEM138):c.465G>A (p.Lys155=)
|
rs141851191
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
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_001082486.2(ACD):c.1148G>A (p.Arg383Gln)
|
rs200293827
|
0.00010
|
NM_001368809.2(AMPD2):c.1080+9T>C
|
rs202160763
|
0.00010
|
NM_001368809.2(AMPD2):c.174G>A (p.Pro58=)
|
rs760164880
|
0.00010
|
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe)
|
rs763310916
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_015631.6(TCTN3):c.1299-11T>C
|
rs532774999
|
0.00010
|
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=)
|
rs201367852
|
0.00010
|
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn)
|
rs780308423
|
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_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val)
|
rs142747676
|
0.00010
|
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys)
|
rs368157267
|
0.00010
|
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=)
|
rs751840699
|
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.798A>G (p.Val266=)
|
rs772364535
|
0.00009
|
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=)
|
rs758878104
|
0.00009
|
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)
|
rs370512338
|
0.00009
|
NM_003384.3(VRK1):c.216+19A>G
|
rs200465413
|
0.00009
|
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
NM_005027.4(PIK3R2):c.1815C>T (p.Tyr605=)
|
rs747442212
|
0.00009
|
NM_005027.4(PIK3R2):c.258C>T (p.Pro86=)
|
rs565485814
|
0.00009
|
NM_005027.4(PIK3R2):c.527G>A (p.Ser176Asn)
|
rs111848145
|
0.00009
|
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys)
|
rs200850741
|
0.00009
|
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)
|
rs758919422
|
0.00009
|
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=)
|
rs201066199
|
0.00009
|
NM_015631.6(TCTN3):c.576C>T (p.Gly192=)
|
rs143020764
|
0.00009
|
NM_016464.5(TMEM138):c.128+3G>T
|
rs754691659
|
0.00009
|
NM_016464.5(TMEM138):c.129-4A>G
|
rs372877379
|
0.00009
|
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
|
rs201834429
|
0.00009
|
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn)
|
rs200392246
|
0.00009
|
NM_001044385.3(TMEM237):c.275-9T>C
|
rs749658028
|
0.00008
|
NM_001082486.2(ACD):c.-24C>T
|
rs770445581
|
0.00008
|
NM_001082486.2(ACD):c.493+7T>C
|
rs199626332
|
0.00008
|
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)
|
rs775607009
|
0.00008
|
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
|
rs374925782
|
0.00008
|
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=)
|
rs199980707
|
0.00008
|
NM_002449.5(MSX2):c.379+7G>C
|
rs569601106
|
0.00008
|
NM_002449.5(MSX2):c.699G>A (p.Ala233=)
|
rs201880865
|
0.00008
|
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His)
|
rs201531496
|
0.00008
|
NM_005027.4(PIK3R2):c.1290+4C>T
|
rs376614345
|
0.00008
|
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly)
|
rs760280114
|
0.00008
|
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=)
|
rs370069674
|
0.00008
|
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile)
|
rs201493612
|
0.00008
|
NM_015631.6(TCTN3):c.933G>T (p.Leu311=)
|
rs371380545
|
0.00008
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp)
|
rs777030988
|
0.00008
|
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=)
|
rs199507509
|
0.00008
|
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn)
|
rs370614998
|
0.00008
|
NM_001077418.3(TMEM231):c.310-17C>T
|
rs752375895
|
0.00007
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=)
|
rs368594302
|
0.00007
|
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)
|
rs541349898
|
0.00007
|
NM_005465.7(AKT3):c.165A>G (p.Ser55=)
|
rs369662909
|
0.00007
|
NM_005465.7(AKT3):c.306C>A (p.Ile102=)
|
rs528649886
|
0.00007
|
NM_014846.4(WASHC5):c.1522-10T>A
|
rs200283018
|
0.00007
|
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)
|
rs375214976
|
0.00007
|
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)
|
rs373599521
|
0.00007
|
NM_014846.4(WASHC5):c.451C>T (p.Leu151=)
|
rs6470336
|
0.00007
|
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=)
|
rs184805842
|
0.00007
|
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)
|
rs375708075
|
0.00007
|
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
|
rs781835148
|
0.00007
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001044385.3(TMEM237):c.738G>A (p.Val246=)
|
rs199947989
|
0.00006
|
NM_001044385.3(TMEM237):c.74+15C>T
|
rs375401635
|
0.00006
|
NM_001044385.3(TMEM237):c.79+15T>C
|
rs182250754
|
0.00006
|
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)
|
rs368402335
|
0.00006
|
NM_001077418.3(TMEM231):c.210G>T (p.Val70=)
|
rs757361739
|
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_001077418.3(TMEM231):c.663C>T (p.Asn221=)
|
rs776287219
|
0.00006
|
NM_001077418.3(TMEM231):c.665-19G>A
|
rs200581224
|
0.00006
|
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met)
|
rs749833212
|
0.00006
|
NM_001368809.2(AMPD2):c.2158-9C>A
|
rs756915998
|
0.00006
|
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser)
|
rs764032802
|
0.00006
|
NM_001368809.2(AMPD2):c.2269-9T>G
|
rs778204030
|
0.00006
|
NM_001368809.2(AMPD2):c.537G>A (p.Pro179=)
|
rs776483432
|
0.00006
|
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln)
|
rs143736463
|
0.00006
|
NM_002449.5(MSX2):c.286G>T (p.Val96Leu)
|
rs769329948
|
0.00006
|
NM_002449.5(MSX2):c.95A>T (p.Glu32Val)
|
rs780593593
|
0.00006
|
NM_002601.4(PDE6D):c.201G>A (p.Ser67=)
|
rs764377846
|
0.00006
|
NM_002601.4(PDE6D):c.408C>T (p.Asp136=)
|
rs547505745
|
0.00006
|
NM_003384.3(VRK1):c.1005T>C (p.Asp335=)
|
rs948151259
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003384.3(VRK1):c.286+20T>C
|
rs756827476
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=)
|
rs774532039
|
0.00006
|
NM_005027.4(PIK3R2):c.1968C>T (p.Ala656=)
|
rs756868198
|
0.00006
|
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)
|
rs542398089
|
0.00006
|
NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn)
|
rs1208639269
|
0.00006
|
NM_005465.7(AKT3):c.820-10T>G
|
rs370193515
|
0.00006
|
NM_005465.7(AKT3):c.840C>T (p.Asp280=)
|
rs201347487
|
0.00006
|
NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser)
|
rs368546546
|
0.00006
|
NM_014846.4(WASHC5):c.18C>T (p.Ala6=)
|
rs17852424
|
0.00006
|
NM_014846.4(WASHC5):c.2151C>T (p.Arg717=)
|
rs766145087
|
0.00006
|
NM_014846.4(WASHC5):c.2850+4T>C
|
rs770743674
|
0.00006
|
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr)
|
rs142883794
|
0.00006
|
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg)
|
rs151123934
|
0.00006
|
NM_015631.6(TCTN3):c.1096-13C>T
|
rs372991715
|
0.00006
|
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=)
|
rs761227686
|
0.00006
|
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys)
|
rs780304630
|
0.00006
|
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
0.00006
|
NM_016464.5(TMEM138):c.81C>T (p.Phe27=)
|
rs149327827
|
0.00006
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
NM_018718.3(CEP41):c.1032C>T (p.Ser344=)
|
rs189895981
|
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_018718.3(CEP41):c.957G>A (p.Gly319=)
|
rs367931878
|
0.00006
|
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg)
|
rs764178255
|
0.00006
|
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala)
|
rs200134441
|
0.00006
|
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=)
|
rs768273057
|
0.00006
|
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln)
|
rs201436658
|
0.00006
|
NM_001044385.3(TMEM237):c.137-14C>G
|
rs760624801
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001077418.2(TMEM231):c.-62A>C
|
rs964025567
|
0.00005
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=)
|
rs769897831
|
0.00005
|
NM_001082486.2(ACD):c.100-7C>G
|
rs774058030
|
0.00005
|
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)
|
rs553014261
|
0.00005
|
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)
|
rs531580930
|
0.00005
|
NM_001082486.2(ACD):c.1226G>A (p.Arg409His)
|
rs374742891
|
0.00005
|
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)
|
rs372747629
|
0.00005
|
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys)
|
rs200909340
|
0.00005
|
NM_001082486.2(ACD):c.617A>C (p.His206Pro)
|
rs755371076
|
0.00005
|
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
|
rs200934242
|
0.00005
|
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)
|
rs374249741
|
0.00005
|
NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His)
|
rs138073893
|
0.00005
|
NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys)
|
rs147463318
|
0.00005
|
NM_001368809.2(AMPD2):c.72G>A (p.Gln24=)
|
rs143354905
|
0.00005
|
NM_002601.4(PDE6D):c.174A>G (p.Ala58=)
|
rs139835658
|
0.00005
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
0.00005
|
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr)
|
rs1041937206
|
0.00005
|
NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val)
|
rs768075445
|
0.00005
|
NM_005027.4(PIK3R2):c.1440A>C (p.Ala480=)
|
rs748631629
|
0.00005
|
NM_005027.4(PIK3R2):c.564C>G (p.Pro188=)
|
rs756748269
|
0.00005
|
NM_005465.7(AKT3):c.1202G>A (p.Arg401Lys)
|
rs771494754
|
0.00005
|
NM_005465.7(AKT3):c.996A>G (p.Leu332=)
|
rs371532988
|
0.00005
|
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=)
|
rs202216835
|
0.00005
|
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=)
|
rs769262318
|
0.00005
|
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys)
|
rs202015963
|
0.00005
|
NM_015631.6(TCTN3):c.1452+17A>G
|
rs376162804
|
0.00005
|
NM_015631.6(TCTN3):c.1591-4G>A
|
rs376757601
|
0.00005
|
NM_015631.6(TCTN3):c.488A>G (p.His163Arg)
|
rs376756059
|
0.00005
|
NM_015631.6(TCTN3):c.888+10T>C
|
rs746513472
|
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_018718.3(CEP41):c.146-11A>G
|
rs781817949
|
0.00005
|
NM_018718.3(CEP41):c.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=)
|
rs199758910
|
0.00005
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=)
|
rs773344011
|
0.00004
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)
|
rs767711440
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
|
rs370790275
|
0.00004
|
NM_001044385.3(TMEM237):c.43-8C>T
|
rs759325746
|
0.00004
|
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met)
|
rs755252433
|
0.00004
|
NM_001044385.3(TMEM237):c.553+9A>T
|
rs568158023
|
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_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
|
rs775449384
|
0.00004
|
NM_001077418.3(TMEM231):c.139+27C>T
|
rs773052053
|
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.240C>T (p.Phe80=)
|
rs760694007
|
0.00004
|
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=)
|
rs778118263
|
0.00004
|
NM_001077418.3(TMEM231):c.309+12C>A
|
rs561475784
|
0.00004
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)
|
rs756494100
|
0.00004
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_001077418.3(TMEM231):c.665-10T>C
|
rs201237881
|
0.00004
|
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)
|
rs1020757759
|
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_001082486.1(ACD):c.20G>C (p.Ser7Thr)
|
rs373593390
|
0.00004
|
NM_001082486.1(ACD):c.78C>T (p.Ser26=)
|
rs142762905
|
0.00004
|
NM_001082486.1(ACD):c.80G>A (p.Gly27Glu)
|
rs778255016
|
0.00004
|
NM_001082486.1(ACD):c.9C>G (p.Gly3=)
|
rs201685459
|
0.00004
|
NM_001082486.2(ACD):c.1207-8C>T
|
rs201192255
|
0.00004
|
NM_001082486.2(ACD):c.242+7G>A
|
rs368510441
|
0.00004
|
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys)
|
rs781239912
|
0.00004
|
NM_001082486.2(ACD):c.513T>G (p.Leu171=)
|
rs755523137
|
0.00004
|
NM_001082486.2(ACD):c.741G>C (p.Gln247His)
|
rs776468683
|
0.00004
|
NM_001082486.2(ACD):c.861C>T (p.Ser287=)
|
rs751515020
|
0.00004
|
NM_001082486.2(ACD):c.876C>T (p.Thr292=)
|
rs372485172
|
0.00004
|
NM_001082486.2(ACD):c.944C>A (p.Pro315His)
|
rs147306863
|
0.00004
|
NM_001368809.2(AMPD2):c.-43G>T
|
rs768664971
|
0.00004
|
NM_001368809.2(AMPD2):c.-94G>T
|
rs1012698060
|
0.00004
|
NM_001368809.2(AMPD2):c.1236G>A (p.Thr412=)
|
rs143970486
|
0.00004
|
NM_001368809.2(AMPD2):c.1479G>A (p.Ser493=)
|
rs777419165
|
0.00004
|
NM_001368809.2(AMPD2):c.1734G>A (p.Lys578=)
|
rs781503038
|
0.00004
|
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu)
|
rs763257527
|
0.00004
|
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val)
|
rs1349754803
|
0.00004
|
NM_001368809.2(AMPD2):c.222+19C>T
|
rs200880116
|
0.00004
|
NM_001368809.2(AMPD2):c.2269-12C>T
|
rs753510697
|
0.00004
|
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys)
|
rs776751502
|
0.00004
|
NM_001368809.2(AMPD2):c.423-20C>T
|
rs112705694
|
0.00004
|
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val)
|
rs145441666
|
0.00004
|
NM_001368809.2(AMPD2):c.861-11C>T
|
rs368738130
|
0.00004
|
NM_002449.5(MSX2):c.380-9G>C
|
rs769673082
|
0.00004
|
NM_002449.5(MSX2):c.49G>A (p.Gly17Ser)
|
rs754789827
|
0.00004
|
NM_002449.5(MSX2):c.723G>A (p.Pro241=)
|
rs201103544
|
0.00004
|
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile)
|
rs766118708
|
0.00004
|
NM_002601.4(PDE6D):c.50+16C>A
|
rs993589615
|
0.00004
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
NM_003384.3(VRK1):c.1170C>G (p.Thr390=)
|
rs776701715
|
0.00004
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
NM_005027.4(PIK3R2):c.108G>A (p.Ala36=)
|
rs761735561
|
0.00004
|
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=)
|
rs200914853
|
0.00004
|
NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile)
|
rs200508580
|
0.00004
|
NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys)
|
rs1022260890
|
0.00004
|
NM_005027.4(PIK3R2):c.1980-5C>T
|
rs771103459
|
0.00004
|
NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp)
|
rs752430880
|
0.00004
|
NM_005465.7(AKT3):c.1104A>G (p.Thr368=)
|
rs774883413
|
0.00004
|
NM_005465.7(AKT3):c.16A>G (p.Ile6Val)
|
rs750279631
|
0.00004
|
NM_005465.7(AKT3):c.820-18A>G
|
rs750153115
|
0.00004
|
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn)
|
rs766834356
|
0.00004
|
NM_014846.4(WASHC5):c.1830C>T (p.Ser610=)
|
rs190138661
|
0.00004
|
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=)
|
rs376307168
|
0.00004
|
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)
|
rs749703625
|
0.00004
|
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala)
|
rs553869211
|
0.00004
|
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu)
|
rs757250722
|
0.00004
|
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)
|
rs367744328
|
0.00004
|
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys)
|
rs758843087
|
0.00004
|
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)
|
rs200733182
|
0.00004
|
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg)
|
rs979115163
|
0.00004
|
NM_014846.4(WASHC5):c.612A>G (p.Pro204=)
|
rs376240904
|
0.00004
|
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr)
|
rs1218811554
|
0.00004
|
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter)
|
rs387907273
|
0.00004
|
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)
|
rs755903123
|
0.00004
|
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)
|
rs755942179
|
0.00004
|
NM_015631.6(TCTN3):c.1590+4A>T
|
rs756071891
|
0.00004
|
NM_015631.6(TCTN3):c.1591-12T>C
|
rs373643964
|
0.00004
|
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr)
|
rs143758863
|
0.00004
|
NM_015631.6(TCTN3):c.381-19C>G
|
rs759096352
|
0.00004
|
NM_015631.6(TCTN3):c.627+6C>T
|
rs190843846
|
0.00004
|
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=)
|
rs755145404
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
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_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
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.213C>T (p.Ile71=)
|
rs370498782
|
0.00004
|
NM_018718.3(CEP41):c.277+16G>C
|
rs782272723
|
0.00004
|
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
|
rs1179996142
|
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_022836.4(DCLRE1B):c.15G>C (p.Leu5=)
|
rs746144334
|
0.00004
|
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=)
|
rs774530909
|
0.00004
|
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly)
|
rs1199130382
|
0.00004
|
NM_022914.2(ACD):c.116G>A (p.Arg39His)
|
rs199612237
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr)
|
rs776825848
|
0.00003
|
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
|
rs879874108
|
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.75-8C>T
|
rs1274569461
|
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_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
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.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00003
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
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_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
NM_001077418.3(TMEM231):c.771-4A>C
|
rs199768195
|
0.00003
|
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=)
|
rs1412070252
|
0.00003
|
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg)
|
rs753367228
|
0.00003
|
NM_001082486.1(ACD):c.27C>T (p.Ala9=)
|
rs780167082
|
0.00003
|
NM_001082486.2(ACD):c.1017C>T (p.Ser339=)
|
rs769298187
|
0.00003
|
NM_001082486.2(ACD):c.1077G>C (p.Gln359His)
|
rs200526158
|
0.00003
|
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu)
|
rs781117606
|
0.00003
|
NM_001082486.2(ACD):c.1269G>A (p.Thr423=)
|
rs751284994
|
0.00003
|
NM_001082486.2(ACD):c.242+13dup
|
rs774149870
|
0.00003
|
NM_001082486.2(ACD):c.255G>A (p.Glu85=)
|
rs146942923
|
0.00003
|
NM_001082486.2(ACD):c.337-14C>T
|
rs765992071
|
0.00003
|
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
|
rs777707916
|
0.00003
|
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser)
|
rs758700674
|
0.00003
|
NM_001082486.2(ACD):c.829+11G>A
|
rs778449742
|
0.00003
|
NM_001082486.2(ACD):c.891G>A (p.Leu297=)
|
rs1459307216
|
0.00003
|
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser)
|
rs1300291520
|
0.00003
|
NM_001368809.2(AMPD2):c.-13C>T
|
rs759860840
|
0.00003
|
NM_001368809.2(AMPD2):c.-149G>A
|
rs773946980
|
0.00003
|
NM_001368809.2(AMPD2):c.-19C>T
|
rs771607197
|
0.00003
|
NM_001368809.2(AMPD2):c.-52C>G
|
rs570541266
|
0.00003
|
NM_001368809.2(AMPD2):c.-67T>C
|
rs745646206
|
0.00003
|
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)
|
rs149171366
|
0.00003
|
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr)
|
rs374652371
|
0.00003
|
NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys)
|
rs146798795
|
0.00003
|
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn)
|
rs754712604
|
0.00003
|
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu)
|
rs746845817
|
0.00003
|
NM_001368809.2(AMPD2):c.2184C>T (p.Ile728=)
|
rs367822022
|
0.00003
|
NM_001368809.2(AMPD2):c.353+9G>A
|
rs371094107
|
0.00003
|
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln)
|
rs753757082
|
0.00003
|
NM_001368809.2(AMPD2):c.579G>A (p.Ala193=)
|
rs183170041
|
0.00003
|
NM_002449.5(MSX2):c.255C>T (p.Gly85=)
|
rs367614252
|
0.00003
|
NM_002449.5(MSX2):c.379+9G>A
|
rs766596963
|
0.00003
|
NM_002449.5(MSX2):c.484C>T (p.Arg162Cys)
|
rs555293970
|
0.00003
|
NM_002449.5(MSX2):c.749C>T (p.Pro250Leu)
|
rs374244313
|
0.00003
|
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser)
|
rs776218196
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala)
|
rs199759408
|
0.00003
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003384.3(VRK1):c.577-19G>C
|
rs781055432
|
0.00003
|
NM_003384.3(VRK1):c.882C>T (p.Asn294=)
|
rs541660707
|
0.00003
|
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=)
|
rs546014325
|
0.00003
|
NM_005027.4(PIK3R2):c.1808+10C>T
|
rs549556976
|
0.00003
|
NM_005027.4(PIK3R2):c.467-17C>T
|
rs373288144
|
0.00003
|
NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu)
|
rs929809973
|
0.00003
|
NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp)
|
rs897040629
|
0.00003
|
NM_005465.7(AKT3):c.906C>T (p.Thr302=)
|
rs770248544
|
0.00003
|
NM_014846.4(WASHC5):c.1094G>C (p.Cys365Ser)
|
rs756457820
|
0.00003
|
NM_014846.4(WASHC5):c.1173C>A (p.Arg391=)
|
rs1344658074
|
0.00003
|
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val)
|
rs138176168
|
0.00003
|
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=)
|
rs147434450
|
0.00003
|
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg)
|
rs747787888
|
0.00003
|
NM_014846.4(WASHC5):c.3201G>A (p.Pro1067=)
|
rs754759068
|
0.00003
|
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)
|
rs762522662
|
0.00003
|
NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=)
|
rs749478956
|
0.00003
|
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=)
|
rs781517421
|
0.00003
|
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=)
|
rs771848227
|
0.00003
|
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu)
|
rs535199429
|
0.00003
|
NM_015631.6(TCTN3):c.153A>G (p.Ser51=)
|
rs937027387
|
0.00003
|
NM_015631.6(TCTN3):c.178G>A (p.Val60Met)
|
rs557962090
|
0.00003
|
NM_015631.6(TCTN3):c.18C>T (p.Leu6=)
|
rs879694012
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00003
|
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)
|
rs565320740
|
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_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.225C>T (p.Ser75=)
|
rs1402831101
|
0.00003
|
NM_018718.3(CEP41):c.33+9C>G
|
rs376019428
|
0.00003
|
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)
|
rs781848162
|
0.00003
|
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
|
rs782769549
|
0.00003
|
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
|
rs782083906
|
0.00003
|
NM_018718.3(CEP41):c.536G>A (p.Arg179His)
|
rs140259402
|
0.00003
|
NM_018718.3(CEP41):c.643-6T>A
|
rs782610948
|
0.00003
|
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)
|
rs782704307
|
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_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala)
|
rs367553852
|
0.00003
|
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met)
|
rs375759945
|
0.00003
|
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg)
|
rs770223898
|
0.00003
|
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser)
|
rs757797519
|
0.00003
|
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)
|
rs749431578
|
0.00003
|
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.274+18G>A
|
rs762194214
|
0.00002
|
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu)
|
rs17856844
|
0.00002
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
|
rs754056989
|
0.00002
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NM_001044385.3(TMEM237):c.75-7G>A
|
rs1443411958
|
0.00002
|
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
|
rs934193386
|
0.00002
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
NM_001077418.3(TMEM231):c.-17G>A
|
rs768513169
|
0.00002
|
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)
|
rs1197109885
|
0.00002
|
NM_001077418.3(TMEM231):c.139+17C>T
|
rs759518508
|
0.00002
|
NM_001077418.3(TMEM231):c.140-35C>T
|
rs750621210
|
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.247T>G (p.Trp83Gly)
|
rs774091057
|
0.00002
|
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)
|
rs775968168
|
0.00002
|
NM_001077418.3(TMEM231):c.309+20G>T
|
rs1186787656
|
0.00002
|
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=)
|
rs774761408
|
0.00002
|
NM_001077418.3(TMEM231):c.456G>A (p.Val152=)
|
rs571562822
|
0.00002
|
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)
|
rs768932063
|
0.00002
|
NM_001077418.3(TMEM231):c.582+9G>A
|
rs1266194059
|
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_001082486.1(ACD):c.102A>C (p.Arg34=)
|
rs773306733
|
0.00002
|
NM_001082486.1(ACD):c.43G>A (p.Gly15Arg)
|
rs752006255
|
0.00002
|
NM_001082486.1(ACD):c.84T>C (p.Ser28=)
|
rs753040978
|
0.00002
|
NM_001082486.2(ACD):c.1004G>A (p.Arg335His)
|
rs774558672
|
0.00002
|
NM_001082486.2(ACD):c.1211C>A (p.Pro404His)
|
rs201907421
|
0.00002
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg)
|
rs773274371
|
0.00002
|
NM_001082486.2(ACD):c.1314C>T (p.Leu438=)
|
rs528476326
|
0.00002
|
NM_001082486.2(ACD):c.1320C>T (p.Ala440=)
|
rs765091780
|
0.00002
|
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)
|
rs150387011
|
0.00002
|
NM_001082486.2(ACD):c.159C>T (p.Asp53=)
|
rs761226246
|
0.00002
|
NM_001082486.2(ACD):c.413+9T>C
|
rs774274068
|
0.00002
|
NM_001082486.2(ACD):c.459-18G>A
|
rs1449515028
|
0.00002
|
NM_001082486.2(ACD):c.545dup (p.Ala184fs)
|
rs1567641214
|
0.00002
|
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile)
|
rs1181866888
|
0.00002
|
NM_001082486.2(ACD):c.608_609del (p.Pro203fs)
|
rs777476880
|
0.00002
|
NM_001082486.2(ACD):c.609T>C (p.Pro203=)
|
rs752926001
|
0.00002
|
NM_001082486.2(ACD):c.642C>T (p.Ala214=)
|
rs375866577
|
0.00002
|
NM_001082486.2(ACD):c.743-14C>T
|
rs781614614
|
0.00002
|
NM_001082486.2(ACD):c.743-17C>T
|
rs746257998
|
0.00002
|
NM_001082486.2(ACD):c.853A>G (p.Met285Val)
|
rs780951085
|
0.00002
|
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu)
|
rs1006777863
|
0.00002
|
NM_001082486.2(ACD):c.99+20C>T
|
rs751731124
|
0.00002
|
NM_001368809.2(AMPD2):c.-112G>A
|
rs759948714
|
0.00002
|
NM_001368809.2(AMPD2):c.1050G>A (p.Val350=)
|
rs758064430
|
0.00002
|
NM_001368809.2(AMPD2):c.1203G>A (p.Thr401=)
|
rs756936910
|
0.00002
|
NM_001368809.2(AMPD2):c.1276-4C>T
|
rs769541378
|
0.00002
|
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu)
|
rs770051774
|
0.00002
|
NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu)
|
rs780742359
|
0.00002
|
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe)
|
rs766037337
|
0.00002
|
NM_001368809.2(AMPD2):c.1862+10C>T
|
rs371378180
|
0.00002
|
NM_001368809.2(AMPD2):c.223-5C>A
|
rs764953041
|
0.00002
|
NM_001368809.2(AMPD2):c.353+10G>A
|
rs1269768577
|
0.00002
|
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys)
|
rs769550203
|
0.00002
|
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr)
|
rs747438024
|
0.00002
|
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu)
|
rs748759724
|
0.00002
|
NM_002449.5(MSX2):c.803A>G (p.Ter268=)
|
rs1436220047
|
0.00002
|
NM_002601.4(PDE6D):c.363C>T (p.Ser121=)
|
rs1206823310
|
0.00002
|
NM_003384.3(VRK1):c.1065A>C (p.Thr355=)
|
rs765863043
|
0.00002
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
0.00002
|
NM_003384.3(VRK1):c.1164A>C (p.Ser388=)
|
rs760801260
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)
|
rs756589419
|
0.00002
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
NM_003384.3(VRK1):c.327T>G (p.Gly109=)
|
rs560242666
|
0.00002
|
NM_003384.3(VRK1):c.39C>T (p.Ser13=)
|
rs759767615
|
0.00002
|
NM_003384.3(VRK1):c.462C>T (p.Val154=)
|
rs757654085
|
0.00002
|
NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu)
|
rs754971694
|
0.00002
|
NM_005027.4(PIK3R2):c.1532G>A (p.Arg511His)
|
rs566152147
|
0.00002
|
NM_005027.4(PIK3R2):c.2037C>T (p.Phe679=)
|
rs112163556
|
0.00002
|
NM_005027.4(PIK3R2):c.265C>T (p.Arg89Cys)
|
rs759139578
|
0.00002
|
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn)
|
rs774502328
|
0.00002
|
NM_005027.4(PIK3R2):c.322+7A>G
|
rs774883359
|
0.00002
|
NM_005465.7(AKT3):c.1050C>T (p.Asp350=)
|
rs1026697335
|
0.00002
|
NM_005465.7(AKT3):c.1163+16C>T
|
rs781443210
|
0.00002
|
NM_005465.7(AKT3):c.1386T>C (p.Asn462=)
|
rs778193336
|
0.00002
|
NM_005465.7(AKT3):c.47-18C>T
|
rs186964075
|
0.00002
|
NM_005465.7(AKT3):c.564T>C (p.Asp188=)
|
rs775503811
|
0.00002
|
NM_005465.7(AKT3):c.882A>G (p.Lys294=)
|
rs766767139
|
0.00002
|
NM_014846.4(WASHC5):c.1210C>T (p.Arg404Trp)
|
rs758878691
|
0.00002
|
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser)
|
rs184557946
|
0.00002
|
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr)
|
rs199936194
|
0.00002
|
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=)
|
rs199725572
|
0.00002
|
NM_014846.4(WASHC5):c.1689-4A>G
|
rs777297323
|
0.00002
|
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=)
|
rs750122277
|
0.00002
|
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=)
|
rs769221945
|
0.00002
|
NM_014846.4(WASHC5):c.2380-6T>C
|
rs375887732
|
0.00002
|
NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)
|
rs554772608
|
0.00002
|
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr)
|
rs761053851
|
0.00002
|
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)
|
rs202184316
|
0.00002
|
NM_014846.4(WASHC5):c.417+9T>C
|
rs758034244
|
0.00002
|
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)
|
rs565980279
|
0.00002
|
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=)
|
rs750698768
|
0.00002
|
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr)
|
rs765375312
|
0.00002
|
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)
|
rs777277759
|
0.00002
|
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu)
|
rs1399269953
|
0.00002
|
NM_015631.6(TCTN3):c.1298+16C>T
|
rs777492522
|
0.00002
|
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His)
|
rs754607949
|
0.00002
|
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn)
|
rs1190331074
|
0.00002
|
NM_015631.6(TCTN3):c.1539G>A (p.Pro513=)
|
rs1026823695
|
0.00002
|
NM_015631.6(TCTN3):c.1591-9T>G
|
rs1317879597
|
0.00002
|
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala)
|
rs1290852650
|
0.00002
|
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val)
|
rs759598264
|
0.00002
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
NM_015631.6(TCTN3):c.499+5G>T
|
rs1242330719
|
0.00002
|
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser)
|
rs541135431
|
0.00002
|
NM_015631.6(TCTN3):c.889-18G>C
|
rs1254012662
|
0.00002
|
NM_015631.6(TCTN3):c.931C>T (p.Leu311=)
|
rs774592467
|
0.00002
|
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys)
|
rs1176554738
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)
|
rs376325566
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016464.5(TMEM138):c.128+8C>T
|
rs769334895
|
0.00002
|
NM_016464.5(TMEM138):c.136G>C (p.Asp46His)
|
rs375503806
|
0.00002
|
NM_016464.5(TMEM138):c.192C>T (p.Phe64=)
|
rs199841349
|
0.00002
|
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys)
|
rs202210746
|
0.00002
|
NM_016464.5(TMEM138):c.426C>T (p.Gly142=)
|
rs781330063
|
0.00002
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
|
rs374440977
|
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.205C>T (p.Leu69=)
|
rs144793783
|
0.00002
|
NM_018718.3(CEP41):c.277+19G>A
|
rs377242873
|
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.723G>A (p.Glu241=)
|
rs782303641
|
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_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu)
|
rs527254164
|
0.00002
|
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala)
|
rs777529403
|
0.00002
|
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu)
|
rs780781288
|
0.00002
|
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg)
|
rs745340882
|
0.00002
|
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=)
|
rs760179150
|
0.00002
|
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly)
|
rs764770290
|
0.00002
|
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter)
|
rs150374247
|
0.00002
|
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=)
|
rs144459176
|
0.00002
|
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg)
|
rs755456896
|
0.00002
|
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=)
|
rs574323645
|
0.00002
|
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=)
|
rs773997509
|
0.00002
|
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=)
|
rs750879802
|
0.00002
|
NC_000016.10:g.67660316G>T
|
rs774922687
|
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.114G>A (p.Lys38=)
|
rs770907860
|
0.00001
|
NM_001044385.3(TMEM237):c.1159+20G>A
|
rs1162670210
|
0.00001
|
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
|
rs373445814
|
0.00001
|
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)
|
rs1317494328
|
0.00001
|
NM_001044385.3(TMEM237):c.136+17T>C
|
rs1461794959
|
0.00001
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
NM_001044385.3(TMEM237):c.136+7C>T
|
rs768764111
|
0.00001
|
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp)
|
rs779250127
|
0.00001
|
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)
|
rs1687223389
|
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.42+15G>A
|
rs1461749315
|
0.00001
|
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser)
|
rs750312169
|
0.00001
|
NM_001044385.3(TMEM237):c.43-6C>T
|
rs886974025
|
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.471A>G (p.Gln157=)
|
rs1466574515
|
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.677+1G>A
|
rs793888505
|
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.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.130C>T (p.Arg44Trp)
|
rs750674092
|
0.00001
|
NM_001077418.3(TMEM231):c.139+23G>A
|
rs770598456
|
0.00001
|
NM_001077418.3(TMEM231):c.139+24C>T
|
rs746632596
|
0.00001
|
NM_001077418.3(TMEM231):c.139+25C>T
|
rs1474874368
|
0.00001
|
NM_001077418.3(TMEM231):c.139+39G>T
|
rs1448302846
|
0.00001
|
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=)
|
rs1444231443
|
0.00001
|
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg)
|
rs766492182
|
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.513C>T (p.Tyr171=)
|
rs751631216
|
0.00001
|
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg)
|
rs763194213
|
0.00001
|
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=)
|
rs748111030
|
0.00001
|
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)
|
rs543122080
|
0.00001
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
NM_001077418.3(TMEM231):c.583-10C>T
|
rs774265542
|
0.00001
|
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met)
|
rs745485432
|
0.00001
|
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=)
|
rs959165450
|
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.714C>T (p.Ala238=)
|
rs750043051
|
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.770+18G>T
|
rs1413880610
|
0.00001
|
NM_001077418.3(TMEM231):c.771-6C>A
|
rs1160382019
|
0.00001
|
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)
|
rs768632156
|
0.00001
|
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
|
rs759314500
|
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_001082486.1(ACD):c.107G>A (p.Gly36Glu)
|
rs527307806
|
0.00001
|
NM_001082486.1(ACD):c.122A>C (p.Gln41Pro)
|
rs755584473
|
0.00001
|
NM_001082486.1(ACD):c.125C>A (p.Ala42Glu)
|
rs1396620065
|
0.00001
|
NM_001082486.1(ACD):c.131G>T (p.Gly44Val)
|
rs756883228
|
0.00001
|
NM_001082486.1(ACD):c.174G>A (p.Lys58=)
|
rs780457506
|
0.00001
|
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu)
|
rs765105630
|
0.00001
|
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg)
|
rs760222002
|
0.00001
|
NM_001082486.1(ACD):c.77G>C (p.Ser26Thr)
|
rs781229512
|
0.00001
|
NM_001082486.1(ACD):c.91A>G (p.Thr31Ala)
|
rs949049586
|
0.00001
|
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)
|
rs776842448
|
0.00001
|
NM_001082486.2(ACD):c.-1G>C
|
rs1432567553
|
0.00001
|
NM_001082486.2(ACD):c.-20C>T
|
rs148124985
|
0.00001
|
NM_001082486.2(ACD):c.-37C>T
|
rs1377497479
|
0.00001
|
NM_001082486.2(ACD):c.1002C>T (p.Ser334=)
|
rs372195324
|
0.00001
|
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn)
|
rs368783801
|
0.00001
|
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala)
|
rs745338439
|
0.00001
|
NM_001082486.2(ACD):c.1032C>T (p.Cys344=)
|
rs776364958
|
0.00001
|
NM_001082486.2(ACD):c.1046del (p.Ser349fs)
|
rs1291433639
|
0.00001
|
NM_001082486.2(ACD):c.1052G>A (p.Arg351His)
|
rs370293582
|
0.00001
|
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)
|
rs757414908
|
0.00001
|
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser)
|
rs996525402
|
0.00001
|
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu)
|
rs772867895
|
0.00001
|
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)
|
rs747913250
|
0.00001
|
NM_001082486.2(ACD):c.114C>G (p.Ala38=)
|
rs756189227
|
0.00001
|
NM_001082486.2(ACD):c.1158T>C (p.Phe386=)
|
rs1371779126
|
0.00001
|
NM_001082486.2(ACD):c.1167C>T (p.Thr389=)
|
rs370757729
|
0.00001
|
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter)
|
rs761750721
|
0.00001
|
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser)
|
rs779041176
|
0.00001
|
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)
|
rs758513965
|
0.00001
|
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg)
|
rs149418249
|
0.00001
|
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp)
|
rs775323156
|
0.00001
|
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)
|
rs1397584716
|
0.00001
|
NM_001082486.2(ACD):c.1299-16G>A
|
rs746378955
|
0.00001
|
NM_001082486.2(ACD):c.15G>T (p.Gly5=)
|
rs1032620777
|
0.00001
|
NM_001082486.2(ACD):c.170C>T (p.Thr57Met)
|
rs1383980242
|
0.00001
|
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe)
|
rs368387402
|
0.00001
|
NM_001082486.2(ACD):c.186C>T (p.Asp62=)
|
rs998982026
|
0.00001
|
NM_001082486.2(ACD):c.242+8G>A
|
rs1402954442
|
0.00001
|
NM_001082486.2(ACD):c.261C>A (p.Gly87=)
|
rs752019137
|
0.00001
|
NM_001082486.2(ACD):c.337-10A>C
|
rs566079044
|
0.00001
|
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)
|
rs775602659
|
0.00001
|
NM_001082486.2(ACD):c.414-5C>A
|
rs372700670
|
0.00001
|
NM_001082486.2(ACD):c.486C>T (p.Ser162=)
|
rs777238079
|
0.00001
|
NM_001082486.2(ACD):c.494-10_494-9del
|
rs1190418028
|
0.00001
|
NM_001082486.2(ACD):c.494-11C>T
|
rs368882788
|
0.00001
|
NM_001082486.2(ACD):c.494-3C>G
|
rs1173572864
|
0.00001
|
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
|
rs1435126124
|
0.00001
|
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile)
|
rs144087853
|
0.00001
|
NM_001082486.2(ACD):c.590G>T (p.Gly197Val)
|
rs780160617
|
0.00001
|
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu)
|
rs1445067662
|
0.00001
|
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter)
|
rs1339068886
|
0.00001
|
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln)
|
rs146270351
|
0.00001
|
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)
|
rs72547495
|
0.00001
|
NM_001082486.2(ACD):c.645G>A (p.Thr215=)
|
rs571116752
|
0.00001
|
NM_001082486.2(ACD):c.666C>T (p.Val222=)
|
rs374438854
|
0.00001
|
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr)
|
rs1039048796
|
0.00001
|
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr)
|
rs748280747
|
0.00001
|
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr)
|
rs752793753
|
0.00001
|
NM_001082486.2(ACD):c.693G>A (p.Glu231=)
|
rs780267725
|
0.00001
|
NM_001082486.2(ACD):c.696T>C (p.Asn232=)
|
rs544679646
|
0.00001
|
NM_001082486.2(ACD):c.711G>T (p.Leu237=)
|
rs1212715141
|
0.00001
|
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu)
|
rs139256582
|
0.00001
|
NM_001082486.2(ACD):c.742+4A>G
|
rs1380521995
|
0.00001
|
NM_001082486.2(ACD):c.743-4C>A
|
rs1455941784
|
0.00001
|
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu)
|
rs754631809
|
0.00001
|
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)
|
rs760404492
|
0.00001
|
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
|
rs1035052101
|
0.00001
|
NM_001082486.2(ACD):c.829+10T>C
|
rs1332514211
|
0.00001
|
NM_001082486.2(ACD):c.830-12C>T
|
rs748678952
|
0.00001
|
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu)
|
rs1370466465
|
0.00001
|
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly)
|
rs779705657
|
0.00001
|
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg)
|
rs754815475
|
0.00001
|
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)
|
rs200298308
|
0.00001
|
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)
|
rs760978454
|
0.00001
|
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn)
|
rs748834837
|
0.00001
|
NM_001082486.2(ACD):c.99+3G>A
|
rs1189416936
|
0.00001
|
NM_001368809.2(AMPD2):c.-151T>C
|
rs748788622
|
0.00001
|
NM_001368809.2(AMPD2):c.-161T>G
|
rs769851350
|
0.00001
|
NM_001368809.2(AMPD2):c.-18G>T
|
rs772899120
|
0.00001
|
NM_001368809.2(AMPD2):c.-38G>A
|
rs1650212785
|
0.00001
|
NM_001368809.2(AMPD2):c.-75G>T
|
rs1025210705
|
0.00001
|
NM_001368809.2(AMPD2):c.1011A>G (p.Leu337=)
|
rs1048375978
|
0.00001
|
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val)
|
rs749918422
|
0.00001
|
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met)
|
rs751131036
|
0.00001
|
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln)
|
rs771577116
|
0.00001
|
NM_001368809.2(AMPD2):c.1571+9C>T
|
rs991003516
|
0.00001
|
NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His)
|
rs772541636
|
0.00001
|
NM_001368809.2(AMPD2):c.1644C>T (p.Phe548=)
|
rs758218441
|
0.00001
|
NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser)
|
rs370528133
|
0.00001
|
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg)
|
rs539379857
|
0.00001
|
NM_001368809.2(AMPD2):c.1779G>A (p.Ala593=)
|
rs767362652
|
0.00001
|
NM_001368809.2(AMPD2):c.177C>T (p.Leu59=)
|
rs753496081
|
0.00001
|
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)
|
rs587777395
|
0.00001
|
NM_001368809.2(AMPD2):c.189G>A (p.Thr63=)
|
rs745929697
|
0.00001
|
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu)
|
rs761542502
|
0.00001
|
NM_001368809.2(AMPD2):c.216C>T (p.Ile72=)
|
rs1351463033
|
0.00001
|
NM_001368809.2(AMPD2):c.21C>T (p.Gly7=)
|
rs762011633
|
0.00001
|
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys)
|
rs1253216358
|
0.00001
|
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His)
|
rs1308492888
|
0.00001
|
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp)
|
rs745350160
|
0.00001
|
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=)
|
rs1399925815
|
0.00001
|
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His)
|
rs200750655
|
0.00001
|
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys)
|
rs575582124
|
0.00001
|
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu)
|
rs567095077
|
0.00001
|
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr)
|
rs748621330
|
0.00001
|
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=)
|
rs778185309
|
0.00001
|
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu)
|
rs768283469
|
0.00001
|
NM_001368809.2(AMPD2):c.837C>T (p.Tyr279=)
|
rs1369584235
|
0.00001
|
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys)
|
rs1255257133
|
0.00001
|
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val)
|
rs771408289
|
0.00001
|
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)
|
rs776868175
|
0.00001
|
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val)
|
rs969126655
|
0.00001
|
NM_002449.5(MSX2):c.174G>A (p.Pro58=)
|
rs1234123597
|
0.00001
|
NM_002449.5(MSX2):c.178A>C (p.Lys60Gln)
|
rs1353231469
|
0.00001
|
NM_002449.5(MSX2):c.228G>A (p.Leu76=)
|
rs999180495
|
0.00001
|
NM_002449.5(MSX2):c.252C>T (p.His84=)
|
rs531764887
|
0.00001
|
NM_002449.5(MSX2):c.428G>A (p.Arg143Gln)
|
rs751060486
|
0.00001
|
NM_002449.5(MSX2):c.698C>T (p.Ala233Val)
|
rs138053303
|
0.00001
|
NM_002449.5(MSX2):c.750G>A (p.Pro250=)
|
rs760404926
|
0.00001
|
NM_002449.5(MSX2):c.756G>A (p.Val252=)
|
rs542254664
|
0.00001
|
NM_002449.5(MSX2):c.77C>T (p.Pro26Leu)
|
rs745950729
|
0.00001
|
NM_002449.5(MSX2):c.83C>T (p.Pro28Leu)
|
rs1361478485
|
0.00001
|
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala)
|
rs1448692172
|
0.00001
|
NM_002601.4(PDE6D):c.114del (p.Ser39fs)
|
rs772392692
|
0.00001
|
NM_002601.4(PDE6D):c.140-19T>C
|
rs766425103
|
0.00001
|
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu)
|
rs1430956453
|
0.00001
|
NM_002601.4(PDE6D):c.405C>T (p.Asp135=)
|
rs373459369
|
0.00001
|
NM_002601.4(PDE6D):c.50+11G>C
|
rs758184957
|
0.00001
|
NM_002601.4(PDE6D):c.50+18G>A
|
rs747869732
|
0.00001
|
NM_003384.3(VRK1):c.1011C>A (p.Gly337=)
|
rs547821991
|
0.00001
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
NM_003384.3(VRK1):c.1143G>A (p.Glu381=)
|
rs745392801
|
0.00001
|
NM_003384.3(VRK1):c.1159+5G>C
|
rs372052354
|
0.00001
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg)
|
rs759541730
|
0.00001
|
NM_003384.3(VRK1):c.127A>G (p.Ile43Val)
|
rs777420974
|
0.00001
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
NM_003384.3(VRK1):c.144T>C (p.Phe48=)
|
rs1887099492
|
0.00001
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)
|
rs768889718
|
0.00001
|
NM_003384.3(VRK1):c.264A>G (p.Gln88=)
|
rs200368952
|
0.00001
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.279A>T (p.Pro93=)
|
rs765294511
|
0.00001
|
NM_003384.3(VRK1):c.286+18C>T
|
rs370335226
|
0.00001
|
NM_003384.3(VRK1):c.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
NM_003384.3(VRK1):c.345G>T (p.Gly115=)
|
rs747216954
|
0.00001
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
NM_003384.3(VRK1):c.366T>C (p.Asn122=)
|
rs781389131
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
NM_003384.3(VRK1):c.484-4A>G
|
rs572434615
|
0.00001
|
NM_003384.3(VRK1):c.507C>T (p.His169=)
|
rs773548929
|
0.00001
|
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
NM_003384.3(VRK1):c.588A>T (p.Val196=)
|
rs1387075963
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_003384.3(VRK1):c.618A>G (p.Pro206=)
|
rs773555796
|
0.00001
|
NM_003384.3(VRK1):c.639C>T (p.Tyr213=)
|
rs1217274457
|
0.00001
|
NM_003384.3(VRK1):c.66A>G (p.Gln22=)
|
rs146973955
|
0.00001
|
NM_003384.3(VRK1):c.699C>T (p.His233=)
|
rs1372315924
|
0.00001
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
NM_003384.3(VRK1):c.709+10T>C
|
rs1468277298
|
0.00001
|
NM_003384.3(VRK1):c.709+9G>A
|
rs1202671679
|
0.00001
|
NM_003384.3(VRK1):c.710-14T>C
|
rs1275418589
|
0.00001
|
NM_003384.3(VRK1):c.710-9C>A
|
rs757724286
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_003384.3(VRK1):c.726T>C (p.Gly242=)
|
rs562273268
|
0.00001
|
NM_003384.3(VRK1):c.72A>C (p.Ala24=)
|
rs147698530
|
0.00001
|
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln)
|
rs1200170208
|
0.00001
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)
|
rs747692654
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003384.3(VRK1):c.82A>G (p.Ile28Val)
|
rs1210199221
|
0.00001
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
NM_003384.3(VRK1):c.831-12A>G
|
rs1555361641
|
0.00001
|
NM_003384.3(VRK1):c.831-18T>A
|
rs746301651
|
0.00001
|
NM_003384.3(VRK1):c.846T>C (p.Ile282=)
|
rs759546376
|
0.00001
|
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)
|
rs1449338678
|
0.00001
|
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg)
|
rs1310616396
|
0.00001
|
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg)
|
rs1340163417
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_003384.3(VRK1):c.889+4G>C
|
rs761286112
|
0.00001
|
NM_003384.3(VRK1):c.966C>T (p.Asp322=)
|
rs1302769997
|
0.00001
|
NM_003384.3(VRK1):c.99A>C (p.Ala33=)
|
rs1461516851
|
0.00001
|
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)
|
rs752086581
|
0.00001
|
NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr)
|
rs368358984
|
0.00001
|
NM_005027.4(PIK3R2):c.1157A>G (p.His386Arg)
|
rs750258489
|
0.00001
|
NM_005027.4(PIK3R2):c.1401C>T (p.Tyr467=)
|
rs1031365601
|
0.00001
|
NM_005027.4(PIK3R2):c.1513T>C (p.Tyr505His)
|
rs2043808995
|
0.00001
|
NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys)
|
rs765672206
|
0.00001
|
NM_005027.4(PIK3R2):c.1559+10G>A
|
rs562886046
|
0.00001
|
NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln)
|
rs200781840
|
0.00001
|
NM_005027.4(PIK3R2):c.1974C>T (p.Ser658=)
|
rs750813850
|
0.00001
|
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val)
|
rs772782368
|
0.00001
|
NM_005027.4(PIK3R2):c.2134C>T (p.Leu712=)
|
rs780181859
|
0.00001
|
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu)
|
rs1239460949
|
0.00001
|
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp)
|
rs770694944
|
0.00001
|
NM_005027.4(PIK3R2):c.36G>A (p.Leu12=)
|
rs991022925
|
0.00001
|
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro)
|
rs920139065
|
0.00001
|
NM_005027.4(PIK3R2):c.467-11T>C
|
rs746464481
|
0.00001
|
NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val)
|
rs1016301486
|
0.00001
|
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln)
|
rs754693011
|
0.00001
|
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp)
|
rs770193876
|
0.00001
|
NM_005027.4(PIK3R2):c.598+20C>T
|
rs1287594814
|
0.00001
|
NM_005027.4(PIK3R2):c.672C>T (p.Phe224=)
|
rs977691358
|
0.00001
|
NM_005465.7(AKT3):c.1044C>T (p.Asn348=)
|
rs199771220
|
0.00001
|
NM_005465.7(AKT3):c.1164-7C>T
|
rs187627364
|
0.00001
|
NM_005465.7(AKT3):c.1275A>G (p.Gln425=)
|
rs143949494
|
0.00001
|
NM_005465.7(AKT3):c.172+19T>C
|
rs746689777
|
0.00001
|
NM_005465.7(AKT3):c.284+10T>C
|
rs371954528
|
0.00001
|
NM_005465.7(AKT3):c.409A>G (p.Thr137Ala)
|
rs1351256745
|
0.00001
|
NM_005465.7(AKT3):c.410C>T (p.Thr137Ile)
|
rs202064755
|
0.00001
|
NM_005465.7(AKT3):c.417T>C (p.His139=)
|
rs1283519302
|
0.00001
|
NM_005465.7(AKT3):c.47-10C>T
|
rs751741670
|
0.00001
|
NM_005465.7(AKT3):c.562-6T>C
|
rs1277089927
|
0.00001
|
NM_005465.7(AKT3):c.726G>A (p.Val242=)
|
rs781331863
|
0.00001
|
NM_005465.7(AKT3):c.729C>T (p.Phe243=)
|
rs1340146435
|
0.00001
|
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln)
|
rs753133551
|
0.00001
|
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg)
|
rs1328488239
|
0.00001
|
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)
|
rs766713240
|
0.00001
|
NM_014846.4(WASHC5):c.1408+4A>C
|
rs780340651
|
0.00001
|
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg)
|
rs1357562835
|
0.00001
|
NM_014846.4(WASHC5):c.1521+10C>T
|
rs760233617
|
0.00001
|
NM_014846.4(WASHC5):c.1611C>G (p.Thr537=)
|
rs1375065582
|
0.00001
|
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=)
|
rs780912744
|
0.00001
|
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)
|
rs751591590
|
0.00001
|
NM_014846.4(WASHC5):c.1688+10G>A
|
rs200755877
|
0.00001
|
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=)
|
rs767965256
|
0.00001
|
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=)
|
rs1044612540
|
0.00001
|
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter)
|
rs762401591
|
0.00001
|
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr)
|
rs1403229183
|
0.00001
|
NM_014846.4(WASHC5):c.2098-6A>G
|
rs984555140
|
0.00001
|
NM_014846.4(WASHC5):c.2199+14A>G
|
rs754889043
|
0.00001
|
NM_014846.4(WASHC5):c.2379+8A>T
|
rs1198647443
|
0.00001
|
NM_014846.4(WASHC5):c.2505-1G>C
|
rs953586472
|
0.00001
|
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser)
|
rs1289915533
|
0.00001
|
NM_014846.4(WASHC5):c.2769C>T (p.Val923=)
|
rs545318648
|
0.00001
|
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr)
|
rs1182525812
|
0.00001
|
NM_014846.4(WASHC5):c.2955-10C>G
|
rs1388469388
|
0.00001
|
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)
|
rs761500521
|
0.00001
|
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)
|
rs775752911
|
0.00001
|
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val)
|
rs1184928685
|
0.00001
|
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr)
|
rs375664674
|
0.00001
|
NM_014846.4(WASHC5):c.348C>T (p.Leu116=)
|
rs1817292048
|
0.00001
|
NM_014846.4(WASHC5):c.435A>G (p.Leu145=)
|
rs145842027
|
0.00001
|
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)
|
rs1462319941
|
0.00001
|
NM_014846.4(WASHC5):c.518+12C>T
|
rs776771436
|
0.00001
|
NM_014846.4(WASHC5):c.654C>T (p.Asn218=)
|
rs144085283
|
0.00001
|
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)
|
rs754463353
|
0.00001
|
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)
|
rs765982075
|
0.00001
|
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser)
|
rs1019440298
|
0.00001
|
NM_014846.4(WASHC5):c.864+5G>C
|
rs772529893
|
0.00001
|
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn)
|
rs753529606
|
0.00001
|
NM_014846.4(WASHC5):c.885G>A (p.Gly295=)
|
rs1435894101
|
0.00001
|
NM_014846.4(WASHC5):c.975A>G (p.Glu325=)
|
rs773768832
|
0.00001
|
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His)
|
rs1267547707
|
0.00001
|
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala)
|
rs768480385
|
0.00001
|
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly)
|
rs745968146
|
0.00001
|
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe)
|
rs931265396
|
0.00001
|
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)
|
rs768285987
|
0.00001
|
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln)
|
rs1314333060
|
0.00001
|
NM_015631.6(TCTN3):c.1203+1G>C
|
rs1221992171
|
0.00001
|
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg)
|
rs1194762228
|
0.00001
|
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly)
|
rs200705429
|
0.00001
|
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val)
|
rs142986132
|
0.00001
|
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg)
|
rs773447066
|
0.00001
|
NM_015631.6(TCTN3):c.1298+17G>A
|
rs776775920
|
0.00001
|
NM_015631.6(TCTN3):c.1299-19C>T
|
rs751339831
|
0.00001
|
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=)
|
rs2097944339
|
0.00001
|
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser)
|
rs775556315
|
0.00001
|
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser)
|
rs2097942068
|
0.00001
|
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser)
|
rs1273735180
|
0.00001
|
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile)
|
rs767733835
|
0.00001
|
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu)
|
rs756561177
|
0.00001
|
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter)
|
rs771745084
|
0.00001
|
NM_015631.6(TCTN3):c.1590+15A>G
|
rs781078051
|
0.00001
|
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val)
|
rs747933488
|
0.00001
|
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del)
|
rs891059654
|
0.00001
|
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile)
|
rs768523448
|
0.00001
|
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe)
|
rs746968875
|
0.00001
|
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr)
|
rs999127884
|
0.00001
|
NM_015631.6(TCTN3):c.222G>A (p.Ser74=)
|
rs913092788
|
0.00001
|
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr)
|
rs1391185443
|
0.00001
|
NM_015631.6(TCTN3):c.257-11T>G
|
rs1201207763
|
0.00001
|
NM_015631.6(TCTN3):c.324C>T (p.Asp108=)
|
rs566756038
|
0.00001
|
NM_015631.6(TCTN3):c.381-3C>T
|
rs546476903
|
0.00001
|
NM_015631.6(TCTN3):c.499+11A>G
|
rs1428675552
|
0.00001
|
NM_015631.6(TCTN3):c.499+18G>A
|
rs1386147381
|
0.00001
|
NM_015631.6(TCTN3):c.507A>G (p.Leu169=)
|
rs1566075059
|
0.00001
|
NM_015631.6(TCTN3):c.531G>A (p.Lys177=)
|
rs199774247
|
0.00001
|
NM_015631.6(TCTN3):c.549C>T (p.Phe183=)
|
rs1403001274
|
0.00001
|
NM_015631.6(TCTN3):c.606A>G (p.Gln202=)
|
rs777642622
|
0.00001
|
NM_015631.6(TCTN3):c.627+18G>A
|
rs763302632
|
0.00001
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
0.00001
|
NM_015631.6(TCTN3):c.627G>A (p.Arg209=)
|
rs752918067
|
0.00001
|
NM_015631.6(TCTN3):c.705T>C (p.Ala235=)
|
rs1251898935
|
0.00001
|
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala)
|
rs780438906
|
0.00001
|
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser)
|
rs762720849
|
0.00001
|
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)
|
rs764091969
|
0.00001
|
NM_015631.6(TCTN3):c.879G>C (p.Gln293His)
|
rs147928670
|
0.00001
|
NM_015631.6(TCTN3):c.883A>G (p.Met295Val)
|
rs746046233
|
0.00001
|
NM_015631.6(TCTN3):c.889-15T>G
|
rs760597184
|
0.00001
|
NM_015631.6(TCTN3):c.889-9C>T
|
rs924437747
|
0.00001
|
NM_015631.6(TCTN3):c.894G>C (p.Gln298His)
|
rs1464905299
|
0.00001
|
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys)
|
rs971089853
|
0.00001
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
NM_015631.6(TCTN3):c.945C>T (p.Asn315=)
|
rs763364836
|
0.00001
|
NM_015631.6(TCTN3):c.9C>A (p.Thr3=)
|
rs1471002377
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016042.4(EXOSC3):c.336A>G (p.Val112=)
|
rs1459576809
|
0.00001
|
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=)
|
rs1828647334
|
0.00001
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)
|
rs373942170
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016464.5(TMEM138):c.129-18T>A
|
rs1181378192
|
0.00001
|
NM_016464.5(TMEM138):c.129-20A>T
|
rs1477684645
|
0.00001
|
NM_016464.5(TMEM138):c.129-8G>T
|
rs1438561210
|
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.276C>T (p.Ser92=)
|
rs756828257
|
0.00001
|
NM_016464.5(TMEM138):c.300+17G>A
|
rs1858147311
|
0.00001
|
NM_016464.5(TMEM138):c.301-9C>A
|
rs764884921
|
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_016464.5(TMEM138):c.94C>T (p.Gln32Ter)
|
rs146264153
|
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.1053C>T (p.Gly351=)
|
rs782191360
|
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.146-18T>C
|
rs202065857
|
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.165T>C (p.Asp55=)
|
rs782085186
|
0.00001
|
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
|
rs1797202624
|
0.00001
|
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
|
rs782426353
|
0.00001
|
NM_018718.3(CEP41):c.208-17A>G
|
rs1374383852
|
0.00001
|
NM_018718.3(CEP41):c.278-1G>A
|
rs1796956272
|
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.384C>T (p.Asn128=)
|
rs374535389
|
0.00001
|
NM_018718.3(CEP41):c.423-8A>G
|
rs1796893817
|
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.643-12T>C
|
rs782521409
|
0.00001
|
NM_018718.3(CEP41):c.678C>T (p.Asp226=)
|
rs545406161
|
0.00001
|
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
|
rs1796819118
|
0.00001
|
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
|
rs149052906
|
0.00001
|
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
|
rs1554416667
|
0.00001
|
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
|
rs781822221
|
0.00001
|
NM_018718.3(CEP41):c.753C>T (p.Ser251=)
|
rs200612684
|
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.973+11T>C
|
rs781847285
|
0.00001
|
NM_018718.3(CEP41):c.973+15C>T
|
rs979158941
|
0.00001
|
NM_018718.3(CEP41):c.974-8C>T
|
rs367692258
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=)
|
rs759682384
|
0.00001
|
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp)
|
rs758926583
|
0.00001
|
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=)
|
rs34713392
|
0.00001
|
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=)
|
rs768672121
|
0.00001
|
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp)
|
rs774397708
|
0.00001
|
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val)
|
rs781509316
|
0.00001
|
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=)
|
rs1558110685
|
0.00001
|
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=)
|
rs760666458
|
0.00001
|
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg)
|
rs748342283
|
0.00001
|
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala)
|
rs770692934
|
0.00001
|
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=)
|
rs762552451
|
0.00001
|
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg)
|
rs1439653012
|
0.00001
|
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe)
|
rs758475213
|
0.00001
|
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg)
|
rs375674908
|
0.00001
|
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=)
|
rs1421095735
|
0.00001
|
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln)
|
rs1401066315
|
0.00001
|
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met)
|
rs745991382
|
0.00001
|
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val)
|
rs1478635543
|
0.00001
|
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile)
|
rs921843370
|
0.00001
|
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln)
|
rs1216262296
|
0.00001
|
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=)
|
rs771842799
|
0.00001
|
NM_022836.4(DCLRE1B):c.99C>T (p.His33=)
|
rs747335906
|
0.00001
|
NC_000001.10:g.(?_108679275)_(111674176_?)del
|
|
|
NC_000001.10:g.(?_110145976)_(110173774_?)dup
|
|
|
NC_000001.10:g.(?_243652296)_(243859038_?)del
|
|
|
NC_000001.10:g.(?_243663038)_(243668656_?)dup
|
|
|
NC_000002.11:g.(?_202334676)_(202523241_?)dup
|
|
|
NC_000002.11:g.(?_202466462)_(202508123_?)del
|
|
|
NC_000002.11:g.(?_202488978)_(202508123_?)dup
|
|
|
NC_000002.11:g.(?_202496774)_(202498154_?)del
|
|
|
NC_000002.11:g.(?_202501451)_(202633608_?)del
|
|
|
NC_000002.11:g.(?_202508062)_(202508123_?)del
|
|
|
NC_000002.11:g.(?_231033840)_(234978657_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)del
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232603918_?)dup
|
|
|
NC_000002.11:g.(?_232645755)_(232645824_?)del
|
|
|
NC_000002.12:g.(?_201618900)_(201647825_?)del
|
|
|
NC_000005.9:g.(?_174151663)_(174156586_?)dup
|
|
|
NC_000008.10:g.(?_126036859)_(126379127_?)dup
|
|
|
NC_000008.10:g.(?_126049459)_(126075913_?)del
|
|
|
NC_000008.10:g.(?_126079753)_(126096155_?)del
|
|
|
NC_000008.11:g.(?_125024607)_(125044104_?)del
|
|
|
NC_000010.10:g.(?_97440209)_(97440386_?)del
|
|
|
NC_000010.10:g.(?_97442388)_(97516032_?)dup
|
|
|
NC_000011.9:g.(?_61133497)_(61133708_?)del
|
|
|
NC_000014.8:g.(?_97299809)_(97327092_?)del
|
|
|
NC_000014.8:g.(?_97319158)_(97322933_?)del
|
|
|
NC_000014.8:g.(?_97326874)_(97327092_?)del
|
|
|
NC_000014.9:g.(?_96810669)_(96860745_?)del
|
|
|
NC_000014.9:g.(?_96846075)_(96847364_?)del
|
|
|
NC_000014.9:g.(?_96846085)_(96847354_?)del
|
|
|
NC_000014.9:g.(?_96856120)_(96860745_?)del
|
|
|
NC_000016.10:g.(?_75539974)_(75545515_?)del
|
|
|
NC_000016.10:g.67660263_67660288del
|
|
|
NC_000016.10:g.67660263_67660288dup
|
rs1339425052
|
|
NC_000016.10:g.67660277C>G
|
rs776666988
|
|
NC_000016.10:g.67660284T>C
|
rs2142976427
|
|
NC_000016.10:g.67660292_67660309del
|
rs1185708088
|
|
NC_000016.10:g.67660300del
|
rs2142976499
|
|
NC_000016.10:g.67660322_67660356del
|
rs2142976594
|
|
NC_000016.10:g.67660324AGG[2]
|
rs1198905942
|
|
NC_000016.10:g.67660332_67660346dup
|
rs2142976632
|
|
NC_000016.10:g.67660358G>A
|
rs1347436636
|
|
NC_000016.10:g.67660400C>G
|
rs2052987449
|
|
NC_000016.10:g.67660407C>T
|
rs745972649
|
|
NC_000016.10:g.67660407_67660419dup
|
rs757084527
|
|
NC_000016.10:g.67660478T>C
|
rs1308323945
|
|
NC_000016.9:g.(?_65821800)_(72146396_?)del
|
|
|
NC_000016.9:g.(?_75490611)_(75576599_?)del
|
|
|
NC_000016.9:g.(?_75512539)_(75576601_?)del
|
|
|
NC_000016.9:g.(?_75573872)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75573891)_(75579393_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75574092_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579403_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579872_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75690509_?)del
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75579704)_(75590169_?)dup
|
|
|
NC_000016.9:g.(?_75589682)_(75590169_?)del
|
|
|
NC_000016.9:g.(?_75589682)_(75690509_?)dup
|
|
|
NC_000019.10:g.(?_18167110)_(18169314_?)dup
|
|
|
NC_000019.9:g.(?_17927663)_(19312528_?)dup
|
|
|
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
|
|
|
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
|
|
|
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
|
|
|
NM_001044385.3(TMEM237):c.1038-13T>C
|
|
|
NM_001044385.3(TMEM237):c.1038-16G>A
|
|
|
NM_001044385.3(TMEM237):c.1038-18G>C
|
rs1462537932
|
|
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.1089C>T (p.Leu363=)
|
|
|
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.1110A>C (p.Gly370=)
|
|
|
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
|
|
|
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+15A>C
|
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
NM_001044385.3(TMEM237):c.1159+3A>G
|
rs754717992
|
|
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
|
|
|
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
|
|
|
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.128dup (p.Asn43fs)
|
|
|
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
|
|
|
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser)
|
rs1376540567
|
|
NM_001044385.3(TMEM237):c.136+19T>C
|
rs2105903480
|
|
NM_001044385.3(TMEM237):c.136+20T>C
|
|
|
NM_001044385.3(TMEM237):c.137-14_137-13del
|
|
|
NM_001044385.3(TMEM237):c.137-17A>G
|
|
|
NM_001044385.3(TMEM237):c.137-19C>G
|
rs369430368
|
|
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
|
rs562984785
|
|
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
|
|
|
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.174T>G (p.Gly58=)
|
rs2105902384
|
|
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)
|
rs902145121
|
|
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=)
|
rs2105902371
|
|
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=)
|
rs2105902357
|
|
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.24G>A (p.Arg8=)
|
rs377090903
|
|
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
|
|
|
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln)
|
rs2105906100
|
|
NM_001044385.3(TMEM237):c.274+14C>G
|
|
|
NM_001044385.3(TMEM237):c.274+18G>C
|
|
|
NM_001044385.3(TMEM237):c.274+9A>G
|
|
|
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.314C>G (p.Ser105Ter)
|
rs2105900861
|
|
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
|
|
|
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
|
rs1319201699
|
|
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)
|
rs565778005
|
|
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.378A>G (p.Lys126=)
|
|
|
NM_001044385.3(TMEM237):c.395+16T>C
|
|
|
NM_001044385.3(TMEM237):c.396-15A>G
|
|
|
NM_001044385.3(TMEM237):c.396-2A>G
|
|
|
NM_001044385.3(TMEM237):c.396-4A>G
|
|
|
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=)
|
rs1253365223
|
|
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
|
|
|
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=)
|
rs2105900286
|
|
NM_001044385.3(TMEM237):c.42+16C>G
|
rs2105906044
|
|
NM_001044385.3(TMEM237):c.42+18C>T
|
|
|
NM_001044385.3(TMEM237):c.42+6C>T
|
|
|
NM_001044385.3(TMEM237):c.42+7G>T
|
|
|
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr)
|
rs2105900282
|
|
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
|
|
|
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
|
|
|
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
|
|
|
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs)
|
rs1957813141
|
|
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.510T>G (p.Thr170=)
|
|
|
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=)
|
rs2105900225
|
|
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
|
rs1433478535
|
|
NM_001044385.3(TMEM237):c.553+2dup
|
rs1957812399
|
|
NM_001044385.3(TMEM237):c.553+3dup
|
rs1957812369
|
|
NM_001044385.3(TMEM237):c.554-3dup
|
rs778807445
|
|
NM_001044385.3(TMEM237):c.554-5C>T
|
|
|
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.605_606del (p.Ile202fs)
|
rs756970007
|
|
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs)
|
rs2105899220
|
|
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.672T>G (p.Ala224=)
|
rs2105899171
|
|
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)
|
rs2105899169
|
|
NM_001044385.3(TMEM237):c.677+18A>G
|
|
|
NM_001044385.3(TMEM237):c.678-13C>T
|
rs1957789089
|
|
NM_001044385.3(TMEM237):c.678-15C>A
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
NM_001044385.3(TMEM237):c.678-6A>G
|
|
|
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
|
|
|
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg)
|
rs1163877651
|
|
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
|
|
|
NM_001044385.3(TMEM237):c.69G>T (p.Val23=)
|
rs2105904439
|
|
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser)
|
rs763431945
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001044385.3(TMEM237):c.74+12_74+14del
|
|
|
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
|
rs1957787811
|
|
NM_001044385.3(TMEM237):c.75-19G>A
|
|
|
NM_001044385.3(TMEM237):c.75-5G>A
|
|
|
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+20A>T
|
rs745908076
|
|
NM_001044385.3(TMEM237):c.79+5G>C
|
|
|
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
|
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.80-20C>T
|
rs753443048
|
|
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
|
|
|
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=)
|
rs2105898943
|
|
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
|
|
|
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.858A>G (p.Ser286=)
|
rs2105898925
|
|
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
|
|
|
NM_001044385.3(TMEM237):c.869+11T>C
|
|
|
NM_001044385.3(TMEM237):c.869+15T>C
|
|
|
NM_001044385.3(TMEM237):c.869+16C>T
|
rs980158363
|
|
NM_001044385.3(TMEM237):c.869+1del
|
rs1311551510
|
|
NM_001044385.3(TMEM237):c.869+8C>G
|
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001044385.3(TMEM237):c.870-4C>G
|
|
|
NM_001044385.3(TMEM237):c.870-8T>G
|
rs2105898458
|
|
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)
|
rs2105898446
|
|
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
|
rs768528861
|
|
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.943+15dup
|
|
|
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.966A>G (p.Leu322=)
|
|
|
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.-30C>A
|
rs2080810566
|
|
NM_001077418.3(TMEM231):c.-37G>A
|
|
|
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+12C>T
|
rs937269706
|
|
NM_001077418.3(TMEM231):c.139+14G>A
|
|
|
NM_001077418.3(TMEM231):c.139+1del
|
rs2151711054
|
|
NM_001077418.3(TMEM231):c.139+28G>A
|
rs370005084
|
|
NM_001077418.3(TMEM231):c.139+39G>C
|
rs1448302846
|
|
NM_001077418.3(TMEM231):c.139+39_139+40del
|
|
|
NM_001077418.3(TMEM231):c.139+44G>T
|
|
|
NM_001077418.3(TMEM231):c.139+48G>T
|
rs1234390023
|
|
NM_001077418.3(TMEM231):c.139+9G>A
|
|
|
NM_001077418.3(TMEM231):c.140-10T>C
|
rs2151710900
|
|
NM_001077418.3(TMEM231):c.140-29C>T
|
|
|
NM_001077418.3(TMEM231):c.140-2A>G
|
rs1216670609
|
|
NM_001077418.3(TMEM231):c.140-30A>C
|
rs2080806593
|
|
NM_001077418.3(TMEM231):c.140-39G>A
|
|
|
NM_001077418.3(TMEM231):c.140-3C>G
|
rs776673877
|
|
NM_001077418.3(TMEM231):c.140-47C>G
|
rs369232571
|
|
NM_001077418.3(TMEM231):c.140-5C>T
|
|
|
NM_001077418.3(TMEM231):c.140-8dup
|
|
|
NM_001077418.3(TMEM231):c.140-9_140-8del
|
|
|
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.171G>A (p.Glu57=)
|
|
|
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
|
|
|
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
|
|
|
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)
|
rs772102451
|
|
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
|
|
|
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
|
|
|
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
|
|
|
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=)
|
rs781250253
|
|
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
|
|
|
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.219C>T (p.Leu73=)
|
|
|
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
|
|
|
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn)
|
rs753709447
|
|
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
|
|
|
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
|
|
|
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=)
|
rs2151710642
|
|
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.28C>A (p.Pro10Thr)
|
|
|
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
|
|
|
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
|
|
|
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile)
|
rs2151710524
|
|
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
|
|
|
NM_001077418.3(TMEM231):c.309+12C>T
|
|
|
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.310-15G>C
|
rs2151703201
|
|
NM_001077418.3(TMEM231):c.310-18C>T
|
|
|
NM_001077418.3(TMEM231):c.310-4C>G
|
rs2080685365
|
|
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
|
|
|
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly)
|
rs1415195367
|
|
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
|
|
|
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
|
|
|
NM_001077418.3(TMEM231):c.354dup (p.His119fs)
|
rs2151703115
|
|
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
|
|
|
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)
|
rs775329522
|
|
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
|
rs1202833405
|
|
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
|
|
|
NM_001077418.3(TMEM231):c.396T>C (p.Val132=)
|
rs1187444555
|
|
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
|
|
|
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
|
|
|
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
|
|
|
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=)
|
rs2080683492
|
|
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
|
|
|
NM_001077418.3(TMEM231):c.438+13G>A
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.438+13G>T
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.438+3G>A
|
rs1183368030
|
|
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
|
|
|
NM_001077418.3(TMEM231):c.439-11A>G
|
|
|
NM_001077418.3(TMEM231):c.439-20G>T
|
|
|
NM_001077418.3(TMEM231):c.439-33_538del
|
|
|
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
|
|
|
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
|
|
|
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
|
|
|
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.492T>C (p.Pro164=)
|
|
|
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.4G>A (p.Ala2Thr)
|
rs903354438
|
|
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
|
|
|
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
|
|
|
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=)
|
rs1335128278
|
|
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
|
|
|
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
|
|
|
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)
|
rs2151702587
|
|
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
|
|
|
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.582+16_582+17delinsGA
|
|
|
NM_001077418.3(TMEM231):c.582+17T>G
|
|
|
NM_001077418.3(TMEM231):c.582+8C>T
|
|
|
NM_001077418.3(TMEM231):c.583-1_583delinsAG
|
rs2151700036
|
|
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
|
|
|
NM_001077418.3(TMEM231):c.583-3C>G
|
|
|
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
|
|
|
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
|
|
|
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.664G>C (p.Val222Leu)
|
rs397514753
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
NM_001077418.3(TMEM231):c.665-13G>C
|
|
|
NM_001077418.3(TMEM231):c.665-19G>T
|
rs200581224
|
|
NM_001077418.3(TMEM231):c.665-19_665-13del
|
|
|
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
|
|
|
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
|
|
|
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
|
|
|
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.702G>A (p.Leu234=)
|
|
|
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
|
|
|
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr)
|
rs1344067825
|
|
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
|
|
|
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.726A>G (p.Pro242=)
|
|
|
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
|
|
|
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val)
|
rs951457866
|
|
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
|
|
|
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+20G>A
|
|
|
NM_001077418.3(TMEM231):c.770+3A>G
|
rs2080625882
|
|
NM_001077418.3(TMEM231):c.770+6C>G
|
|
|
NM_001077418.3(TMEM231):c.771-17T>G
|
|
|
NM_001077418.3(TMEM231):c.771-4A>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.792G>A (p.Glu264=)
|
rs754352443
|
|
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
|
|
|
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
|
|
|
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
|
|
|
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.852T>C (p.Phe284=)
|
|
|
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.888G>A (p.Val296=)
|
|
|
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_001077418.3(TMEM231):c.927C>T (p.Asp309=)
|
|
|
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
|
|
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
|
rs1362332031
|
|
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
|
|
|
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
|
|
|
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
|
|
|
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
|
|
|
NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)
|
|
|
NM_001082486.1(ACD):c.102A>G (p.Arg34=)
|
|
|
NM_001082486.1(ACD):c.103G>A (p.Ala35Thr)
|
rs772377460
|
|
NM_001082486.1(ACD):c.106G>A (p.Gly36Arg)
|
rs1452825225
|
|
NM_001082486.1(ACD):c.109C>T (p.Arg37Cys)
|
rs748543340
|
|
NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)
|
|
|
NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)
|
|
|
NM_001082486.1(ACD):c.119C>T (p.Ala40Val)
|
rs374417270
|
|
NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)
|
|
|
NM_001082486.1(ACD):c.123G>A (p.Gln41=)
|
rs974748354
|
|
NM_001082486.1(ACD):c.128G>A (p.Arg43Gln)
|
rs767099534
|
|
NM_001082486.1(ACD):c.132T>C (p.Gly44=)
|
|
|
NM_001082486.1(ACD):c.135A>T (p.Val45=)
|
rs1567643005
|
|
NM_001082486.1(ACD):c.138T>C (p.Arg46=)
|
|
|
NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)
|
|
|
NM_001082486.1(ACD):c.150C>A (p.Leu50=)
|
|
|
NM_001082486.1(ACD):c.153C>T (p.Leu51=)
|
|
|
NM_001082486.1(ACD):c.157C>A (p.Arg53=)
|
rs773291286
|
|
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp)
|
rs773291286
|
|
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
|
|
|
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
|
|
|
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
|
|
|
NM_001082486.1(ACD):c.183T>C (p.Pro61=)
|
rs2052981802
|
|
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser)
|
rs2142976460
|
|
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
|
|
|
NM_001082486.1(ACD):c.201G>C (p.Gly67=)
|
|
|
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr)
|
rs763682845
|
|
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
|
|
|
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
|
|
|
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
|
|
|
NM_001082486.1(ACD):c.37G>A (p.Val13Ile)
|
rs781424953
|
|
NM_001082486.1(ACD):c.56G>A (p.Arg19His)
|
|
|
NM_001082486.1(ACD):c.60A>C (p.Ala20=)
|
|
|
NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)
|
|
|
NM_001082486.1(ACD):c.65C>T (p.Ala22Val)
|
|
|
NM_001082486.1(ACD):c.66G>C (p.Ala22=)
|
rs766076324
|
|
NM_001082486.1(ACD):c.69G>A (p.Gly23=)
|
rs554258142
|
|
NM_001082486.1(ACD):c.69G>C (p.Gly23=)
|
|
|
NM_001082486.1(ACD):c.74C>G (p.Thr25Ser)
|
rs1237579301
|
|
NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)
|
|
|
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
|
|
|
NM_001082486.1(ACD):c.87G>A (p.Leu29=)
|
rs1295714510
|
|
NM_001082486.1(ACD):c.88C>T (p.His30Tyr)
|
rs376813282
|
|
NM_001082486.1(ACD):c.90C>T (p.His30=)
|
rs2052986707
|
|
NM_001082486.1(ACD):c.94G>C (p.Gly32Arg)
|
rs761628896
|
|
NM_001082486.1(ACD):c.94G>T (p.Gly32Cys)
|
rs761628896
|
|
NM_001082486.1(ACD):c.95G>A (p.Gly32Asp)
|
rs774085628
|
|
NM_001082486.1(ACD):c.95G>T (p.Gly32Val)
|
|
|
NM_001082486.1(ACD):c.96C>A (p.Gly32=)
|
rs574891736
|
|
NM_001082486.1(ACD):c.96C>G (p.Gly32=)
|
rs574891736
|
|
NM_001082486.1(ACD):c.96C>T (p.Gly32=)
|
|
|
NM_001082486.2(ACD):c.-14G>T
|
|
|
NM_001082486.2(ACD):c.-16G>C
|
|
|
NM_001082486.2(ACD):c.-19G>T
|
|
|
NM_001082486.2(ACD):c.-23A>T
|
rs746445437
|
|
NM_001082486.2(ACD):c.-26T>G
|
|
|
NM_001082486.2(ACD):c.-29C>A
|
|
|
NM_001082486.2(ACD):c.-29C>G
|
rs534010648
|
|
NM_001082486.2(ACD):c.-29C>T
|
|
|
NM_001082486.2(ACD):c.-30C>T
|
|
|
NM_001082486.2(ACD):c.-31C>A
|
rs775903443
|
|
NM_001082486.2(ACD):c.-31C>T
|
|
|
NM_001082486.2(ACD):c.-34G>C
|
|
|
NM_001082486.2(ACD):c.-36C>A
|
rs762184098
|
|
NM_001082486.2(ACD):c.-36C>G
|
rs762184098
|
|
NM_001082486.2(ACD):c.-36C>T
|
|
|
NM_001082486.2(ACD):c.-38A>T
|
|
|
NM_001082486.2(ACD):c.-8C>G
|
rs766360608
|
|
NM_001082486.2(ACD):c.-8C>T
|
rs766360608
|
|
NM_001082486.2(ACD):c.-9G>A
|
|
|
NM_001082486.2(ACD):c.-9G>C
|
rs377247506
|
|
NM_001082486.2(ACD):c.-9G>T
|
rs377247506
|
|
NM_001082486.2(ACD):c.100-12C>T
|
|
|
NM_001082486.2(ACD):c.100-15G>A
|
|
|
NM_001082486.2(ACD):c.100-15G>C
|
|
|
NM_001082486.2(ACD):c.100-15G>T
|
rs747553547
|
|
NM_001082486.2(ACD):c.100-16C>T
|
|
|
NM_001082486.2(ACD):c.100-19C>T
|
|
|
NM_001082486.2(ACD):c.100-1G>A
|
|
|
NM_001082486.2(ACD):c.100-6C>T
|
rs1597774112
|
|
NM_001082486.2(ACD):c.100-9C>T
|
|
|
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys)
|
rs762262197
|
|
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
|
|
|
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
|
|
|
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter)
|
rs1316577809
|
|
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)
|
rs1567640107
|
|
NM_001082486.2(ACD):c.1026G>A (p.Gln342=)
|
|
|
NM_001082486.2(ACD):c.1035T>C (p.Thr345=)
|
|
|
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
|
|
|
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu)
|
rs2142967912
|
|
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
|
|
|
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
|
|
|
NM_001082486.2(ACD):c.1056C>T (p.Ser352=)
|
|
|
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
|
|
|
NM_001082486.2(ACD):c.1071A>C (p.Pro357=)
|
|
|
NM_001082486.2(ACD):c.1074C>T (p.His358=)
|
|
|
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
|
|
|
NM_001082486.2(ACD):c.1080T>C (p.Ala360=)
|
|
|
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
|
|
|
NM_001082486.2(ACD):c.1089C>T (p.Thr363=)
|
|
|
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser)
|
rs143990276
|
|
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
|
|
|
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
|
|
|
NM_001082486.2(ACD):c.1108C>T (p.Leu370=)
|
|
|
NM_001082486.2(ACD):c.1119G>A (p.Lys373=)
|
|
|
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
|
|
|
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val)
|
rs2142967624
|
|
NM_001082486.2(ACD):c.1137C>T (p.Pro379=)
|
|
|
NM_001082486.2(ACD):c.114C>T (p.Ala38=)
|
rs756189227
|
|
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
|
|
|
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
|
|
|
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter)
|
rs2052908546
|
|
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
|
|
|
NM_001082486.2(ACD):c.1206+10G>C
|
|
|
NM_001082486.2(ACD):c.1206+10del
|
rs2052907559
|
|
NM_001082486.2(ACD):c.1206+18G>A
|
|
|
NM_001082486.2(ACD):c.1206+4A>G
|
rs2142967211
|
|
NM_001082486.2(ACD):c.1206+8T>C
|
|
|
NM_001082486.2(ACD):c.1207-18A>G
|
|
|
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu)
|
rs201907421
|
|
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
|
|
|
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
|
|
|
NM_001082486.2(ACD):c.1224T>C (p.His408=)
|
|
|
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
|
|
|
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val)
|
rs2052901178
|
|
NM_001082486.2(ACD):c.123G>C (p.Ala41=)
|
|
|
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys)
|
rs1476903915
|
|
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn)
|
rs1281121095
|
|
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
|
|
|
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu)
|
rs149418249
|
|
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
|
|
|
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
|
|
|
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
|
|
|
NM_001082486.2(ACD):c.1293T>C (p.Ala431=)
|
rs1597767407
|
|
NM_001082486.2(ACD):c.1297A>C (p.Arg433=)
|
rs1407657316
|
|
NM_001082486.2(ACD):c.1298+17G>A
|
|
|
NM_001082486.2(ACD):c.1298+1G>C
|
rs2052898891
|
|
NM_001082486.2(ACD):c.1298+9C>T
|
rs776494951
|
|
NM_001082486.2(ACD):c.1299-14T>C
|
rs1413270785
|
|
NM_001082486.2(ACD):c.1299-19A>G
|
|
|
NM_001082486.2(ACD):c.1299-4C>T
|
rs1597767023
|
|
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
|
|
|
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser)
|
rs201926842
|
|
NM_001082486.2(ACD):c.1332C>T (p.His444=)
|
|
|
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
|
|
|
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
|
|
|
NM_001082486.2(ACD):c.1356G>A (p.Gly452=)
|
|
|
NM_001082486.2(ACD):c.1359T>C (p.Ser453=)
|
|
|
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
|
|
|
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)
|
rs772312742
|
|
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
|
|
|
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
|
|
|
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu)
|
rs2142965523
|
|
NM_001082486.2(ACD):c.1371G>A (p.Pro457=)
|
|
|
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
|
|
|
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
|
|
|
NM_001082486.2(ACD):c.139C>G (p.His47Asp)
|
rs1057522813
|
|
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
|
|
|
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
|
|
|
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
|
|
|
NM_001082486.2(ACD):c.150T>C (p.Asp50=)
|
|
|
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
|
|
|
NM_001082486.2(ACD):c.174G>A (p.Leu58=)
|
rs768395580
|
|
NM_001082486.2(ACD):c.174G>T (p.Leu58=)
|
|
|
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
|
|
|
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
|
|
|
NM_001082486.2(ACD):c.189G>C (p.Gly63=)
|
|
|
NM_001082486.2(ACD):c.18G>A (p.Arg6=)
|
rs779383442
|
|
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)
|
rs779383442
|
|
NM_001082486.2(ACD):c.192C>T (p.Thr64=)
|
|
|
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
|
|
|
NM_001082486.2(ACD):c.201C>T (p.Val67=)
|
rs1428575354
|
|
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser)
|
rs748312961
|
|
NM_001082486.2(ACD):c.207C>T (p.Cys69=)
|
|
|
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
|
|
|
NM_001082486.2(ACD):c.242+5G>A
|
|
|
NM_001082486.2(ACD):c.243-13C>T
|
|
|
NM_001082486.2(ACD):c.243-14C>G
|
rs531965174
|
|
NM_001082486.2(ACD):c.243-14C>T
|
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
NM_001082486.2(ACD):c.258C>T (p.Phe86=)
|
|
|
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
|
|
|
NM_001082486.2(ACD):c.267C>G (p.Arg89=)
|
|
|
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
|
|
|
NM_001082486.2(ACD):c.283C>T (p.Leu95=)
|
rs2142974673
|
|
NM_001082486.2(ACD):c.28C>A (p.Arg10=)
|
|
|
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
|
|
|
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
|
|
|
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
|
|
|
NM_001082486.2(ACD):c.303C>T (p.Cys101=)
|
rs2142974629
|
|
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
|
|
|
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
|
|
|
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter)
|
rs2142974596
|
|
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
|
|
|
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
|
|
|
NM_001082486.2(ACD):c.330C>A (p.Gly110=)
|
rs1214995325
|
|
NM_001082486.2(ACD):c.330C>T (p.Gly110=)
|
|
|
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp)
|
rs2142974572
|
|
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
|
|
|
NM_001082486.2(ACD):c.336+12G>A
|
|
|
NM_001082486.2(ACD):c.336+8G>A
|
|
|
NM_001082486.2(ACD):c.336+8G>T
|
|
|
NM_001082486.2(ACD):c.337-12G>A
|
rs1021416366
|
|
NM_001082486.2(ACD):c.337-16C>G
|
|
|
NM_001082486.2(ACD):c.337-17C>T
|
rs1186068061
|
|
NM_001082486.2(ACD):c.337-20T>G
|
rs1567641944
|
|
NM_001082486.2(ACD):c.337-5_337-3del
|
|
|
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser)
|
rs377701284
|
|
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)
|
rs141113896
|
|
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
|
|
|
NM_001082486.2(ACD):c.357G>C (p.Gln119His)
|
rs2052958022
|
|
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
|
|
|
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
|
|
|
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter)
|
rs1244950221
|
|
NM_001082486.2(ACD):c.394C>A (p.Arg132=)
|
rs2052957232
|
|
NM_001082486.2(ACD):c.405G>A (p.Val135=)
|
|
|
NM_001082486.2(ACD):c.413+11C>T
|
|
|
NM_001082486.2(ACD):c.413+1G>C
|
|
|
NM_001082486.2(ACD):c.413+7G>A
|
rs1017802690
|
|
NM_001082486.2(ACD):c.413+9T>A
|
|
|
NM_001082486.2(ACD):c.414-16C>A
|
rs1363142172
|
|
NM_001082486.2(ACD):c.414-17C>G
|
rs1291861643
|
|
NM_001082486.2(ACD):c.414-7T>C
|
|
|
NM_001082486.2(ACD):c.414-9T>G
|
|
|
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter)
|
rs2142973399
|
|
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
|
|
|
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
|
|
|
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln)
|
rs2142976000
|
|
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
|
|
|
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
|
|
|
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
|
|
|
NM_001082486.2(ACD):c.458+20C>T
|
|
|
NM_001082486.2(ACD):c.459-12C>G
|
|
|
NM_001082486.2(ACD):c.459-14C>T
|
rs2142972775
|
|
NM_001082486.2(ACD):c.459-16C>T
|
rs1422483519
|
|
NM_001082486.2(ACD):c.459-4G>A
|
|
|
NM_001082486.2(ACD):c.459-4G>T
|
|
|
NM_001082486.2(ACD):c.459-5T>C
|
rs367821436
|
|
NM_001082486.2(ACD):c.483G>A (p.Ser161=)
|
|
|
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs)
|
rs2142972519
|
|
NM_001082486.2(ACD):c.493+10A>C
|
|
|
NM_001082486.2(ACD):c.493+16A>G
|
|
|
NM_001082486.2(ACD):c.493+19A>G
|
|
|
NM_001082486.2(ACD):c.493+6G>A
|
rs2052945054
|
|
NM_001082486.2(ACD):c.494-11C>G
|
|
|
NM_001082486.2(ACD):c.494-19C>T
|
rs749224903
|
|
NM_001082486.2(ACD):c.494-5C>G
|
|
|
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
|
|
|
NM_001082486.2(ACD):c.504G>C (p.Leu168=)
|
|
|
NM_001082486.2(ACD):c.513T>C (p.Leu171=)
|
|
|
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro)
|
rs2142971578
|
|
NM_001082486.2(ACD):c.516G>C (p.Leu172=)
|
|
|
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
|
|
|
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)
|
rs145007645
|
|
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)
|
rs145007645
|
|
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
|
|
|
NM_001082486.2(ACD):c.536del (p.Gln179fs)
|
rs2142971508
|
|
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg)
|
rs2142971458
|
|
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
|
|
|
NM_001082486.2(ACD):c.555C>G (p.Leu185=)
|
|
|
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
|
|
|
NM_001082486.2(ACD):c.558G>A (p.Val186=)
|
|
|
NM_001082486.2(ACD):c.576C>T (p.Cys192=)
|
|
|
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
|
|
|
NM_001082486.2(ACD):c.583C>T (p.Leu195=)
|
rs2142971297
|
|
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
|
|
|
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
|
|
|
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
|
|
|
NM_001082486.2(ACD):c.591C>T (p.Gly197=)
|
|
|
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
|
|
|
NM_001082486.2(ACD):c.612C>T (p.Val204=)
|
|
|
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
|
|
|
NM_001082486.2(ACD):c.627C>A (p.Ala209=)
|
|
|
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
|
|
|
NM_001082486.2(ACD):c.641C>T (p.Ala214Val)
|
rs1306270247
|
|
NM_001082486.2(ACD):c.645+10G>C
|
|
|
NM_001082486.2(ACD):c.645+16T>C
|
|
|
NM_001082486.2(ACD):c.645+16T>G
|
|
|
NM_001082486.2(ACD):c.645+2T>C
|
|
|
NM_001082486.2(ACD):c.645+7C>G
|
|
|
NM_001082486.2(ACD):c.646-11A>G
|
|
|
NM_001082486.2(ACD):c.646-20A>G
|
|
|
NM_001082486.2(ACD):c.646-6C>T
|
|
|
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
|
|
|
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup)
|
rs2142970611
|
|
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
|
|
|
NM_001082486.2(ACD):c.666C>A (p.Val222=)
|
|
|
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
|
|
|
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
|
|
|
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
|
|
|
NM_001082486.2(ACD):c.702G>C (p.Gln234His)
|
rs1202466632
|
|
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe)
|
rs757807430
|
|
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
|
|
|
NM_001082486.2(ACD):c.723C>T (p.Gly241=)
|
rs757919779
|
|
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
|
|
|
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
|
|
|
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
|
|
|
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)
|
rs1048865744
|
|
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr)
|
rs1048865744
|
|
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys)
|
rs1555542235
|
|
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)
|
rs1597770431
|
|
NM_001082486.2(ACD):c.743-3dup
|
rs1369632476
|
|
NM_001082486.2(ACD):c.743-6C>T
|
|
|
NM_001082486.2(ACD):c.743-7C>A
|
rs541174802
|
|
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
|
|
|
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
|
|
|
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
|
|
|
NM_001082486.2(ACD):c.759A>G (p.Pro253=)
|
|
|
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly)
|
rs778481591
|
|
NM_001082486.2(ACD):c.765C>T (p.Asp255=)
|
|
|
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
|
|
|
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
|
|
|
NM_001082486.2(ACD):c.781C>T (p.Leu261=)
|
rs760404492
|
|
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
|
|
|
NM_001082486.2(ACD):c.79C>A (p.Arg27=)
|
|
|
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
|
|
|
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
|
|
|
NM_001082486.2(ACD):c.813C>T (p.Ser271=)
|
rs878924464
|
|
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)
|
rs777131279
|
|
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly)
|
rs2052924182
|
|
NM_001082486.2(ACD):c.825C>T (p.Ser275=)
|
rs747335465
|
|
NM_001082486.2(ACD):c.830-11C>T
|
|
|
NM_001082486.2(ACD):c.830-12C>A
|
|
|
NM_001082486.2(ACD):c.830-13C>A
|
|
|
NM_001082486.2(ACD):c.830-14C>T
|
rs2142968964
|
|
NM_001082486.2(ACD):c.830-1G>A
|
rs1597769397
|
|
NM_001082486.2(ACD):c.830-2A>T
|
rs2142968890
|
|
NM_001082486.2(ACD):c.830-5C>T
|
|
|
NM_001082486.2(ACD):c.830-9C>T
|
|
|
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
|
|
|
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
|
|
|
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
|
|
|
NM_001082486.2(ACD):c.861C>G (p.Ser287=)
|
rs751515020
|
|
NM_001082486.2(ACD):c.870T>C (p.Ser290=)
|
|
|
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
|
|
|
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn)
|
rs2052917223
|
|
NM_001082486.2(ACD):c.879C>T (p.Ser293=)
|
|
|
NM_001082486.2(ACD):c.891G>C (p.Leu297=)
|
rs1459307216
|
|
NM_001082486.2(ACD):c.894T>A (p.Pro298=)
|
rs773774371
|
|
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
|
|
|
NM_001082486.2(ACD):c.903C>T (p.Ser301=)
|
|
|
NM_001082486.2(ACD):c.90G>C (p.Gln30His)
|
rs1242526760
|
|
NM_001082486.2(ACD):c.911C>T (p.Ala304Val)
|
rs2142968526
|
|
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
|
|
|
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
|
|
|
NM_001082486.2(ACD):c.939C>G (p.Ser313=)
|
rs1368630251
|
|
NM_001082486.2(ACD):c.950_951del (p.Pro317fs)
|
rs2142968355
|
|
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr)
|
rs2052915383
|
|
NM_001082486.2(ACD):c.965C>T (p.Ala322Val)
|
rs2142968307
|
|
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
|
|
|
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
|
rs777812658
|
|
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)
|
rs777812658
|
|
NM_001082486.2(ACD):c.975C>T (p.Thr325=)
|
|
|
NM_001082486.2(ACD):c.981C>T (p.Thr327=)
|
|
|
NM_001082486.2(ACD):c.99+19C>T
|
|
|
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp)
|
rs973439601
|
|
NM_001082486.2(ACD):c.9T>G (p.Gly3=)
|
rs2142976114
|
|
NM_001368809.2(AMPD2):c.-119G>C
|
|
|
NM_001368809.2(AMPD2):c.-133C>T
|
|
|
NM_001368809.2(AMPD2):c.-43_-24dup
|
|
|
NM_001368809.2(AMPD2):c.-45C>T
|
|
|
NM_001368809.2(AMPD2):c.-46C>G
|
rs1650210949
|
|
NM_001368809.2(AMPD2):c.-95T>C
|
|
|
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
|
|
|
NM_001368809.2(AMPD2):c.1035C>T (p.Ala345=)
|
|
|
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val)
|
rs2101153100
|
|
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
|
|
|
NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val)
|
rs1195759768
|
|
NM_001368809.2(AMPD2):c.1080+16G>A
|
|
|
NM_001368809.2(AMPD2):c.1080+18G>A
|
|
|
NM_001368809.2(AMPD2):c.1080+3G>A
|
|
|
NM_001368809.2(AMPD2):c.1081-18T>C
|
|
|
NM_001368809.2(AMPD2):c.1110C>T (p.Cys370=)
|
|
|
NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)
|
|
|
NM_001368809.2(AMPD2):c.1158G>A (p.Arg386=)
|
|
|
NM_001368809.2(AMPD2):c.1173C>T (p.Ile391=)
|
|
|
NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)
|
|
|
NM_001368809.2(AMPD2):c.1179C>T (p.His393=)
|
|
|
NM_001368809.2(AMPD2):c.1197A>G (p.Glu399=)
|
|
|
NM_001368809.2(AMPD2):c.120G>A (p.Pro40=)
|
|
|
NM_001368809.2(AMPD2):c.1246C>T (p.Leu416=)
|
|
|
NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met)
|
rs2101165160
|
|
NM_001368809.2(AMPD2):c.1275+15C>T
|
|
|
NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)
|
|
|
NM_001368809.2(AMPD2):c.1276-13C>T
|
|
|
NM_001368809.2(AMPD2):c.1276-18C>G
|
|
|
NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser)
|
rs2101165790
|
|
NM_001368809.2(AMPD2):c.1329T>C (p.Ile443=)
|
|
|
NM_001368809.2(AMPD2):c.1338C>T (p.Ser446=)
|
|
|
NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=)
|
|
|
NM_001368809.2(AMPD2):c.1408-3_1418del
|
|
|
NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys)
|
rs756027056
|
|
NM_001368809.2(AMPD2):c.144G>A (p.Pro48=)
|
|
|
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)
|
rs192669225
|
|
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys)
|
rs1200977295
|
|
NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)
|
|
|
NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)
|
|
|
NM_001368809.2(AMPD2):c.1503G>A (p.Ala501=)
|
|
|
NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)
|
|
|
NM_001368809.2(AMPD2):c.150C>T (p.Pro50=)
|
|
|
NM_001368809.2(AMPD2):c.1512C>T (p.Ala504=)
|
rs769002205
|
|
NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)
|
|
|
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn)
|
rs374652371
|
|
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
|
|
|
NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly)
|
rs146798795
|
|
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
|
|
|
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
|
|
|
NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe)
|
rs2101167424
|
|
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
|
|
|
NM_001368809.2(AMPD2):c.1571+19G>A
|
|
|
NM_001368809.2(AMPD2):c.1572-13G>T
|
rs1370260788
|
|
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
|
|
|
NM_001368809.2(AMPD2):c.1698+1G>A
|
rs1650988132
|
|
NM_001368809.2(AMPD2):c.1699-5A>G
|
|
|
NM_001368809.2(AMPD2):c.1699-9C>A
|
|
|
NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)
|
|
|
NM_001368809.2(AMPD2):c.1725T>C (p.Asp575=)
|
rs2101169930
|
|
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys)
|
rs867766720
|
|
NM_001368809.2(AMPD2):c.1779G>C (p.Ala593=)
|
rs767362652
|
|
NM_001368809.2(AMPD2):c.180C>T (p.Asp60=)
|
|
|
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
|
|
|
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
|
|
|
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
|
|
|
NM_001368809.2(AMPD2):c.1862+10C>G
|
|
|
NM_001368809.2(AMPD2):c.1863-3dup
|
|
|
NM_001368809.2(AMPD2):c.1863-7C>G
|
rs563578390
|
|
NM_001368809.2(AMPD2):c.1863-7C>T
|
|
|
NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)
|
|
|
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
|
|
|
NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=)
|
|
|
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu)
|
rs955380053
|
|
NM_001368809.2(AMPD2):c.2002C>T (p.Leu668=)
|
rs780963535
|
|
NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=)
|
|
|
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
|
|
|
NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)
|
|
|
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly)
|
rs1264297138
|
|
NM_001368809.2(AMPD2):c.2127T>C (p.Thr709=)
|
|
|
NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=)
|
|
|
NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC
|
|
|
NM_001368809.2(AMPD2):c.2157+16G>T
|
|
|
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=)
|
rs2101174469
|
|
NM_001368809.2(AMPD2):c.2158-14C>T
|
|
|
NM_001368809.2(AMPD2):c.2158-6G>C
|
|
|
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu)
|
rs1651160667
|
|
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
|
|
|
NM_001368809.2(AMPD2):c.222+15C>T
|
|
|
NM_001368809.2(AMPD2):c.222+20G>T
|
|
|
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly)
|
rs762954605
|
|
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
|
|
|
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
|
|
|
NM_001368809.2(AMPD2):c.2268+11G>A
|
|
|
NM_001368809.2(AMPD2):c.2268+11G>C
|
|
|
NM_001368809.2(AMPD2):c.2268+18T>C
|
|
|
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly)
|
rs1651209949
|
|
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
|
|
|
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
|
|
|
NM_001368809.2(AMPD2):c.237C>G (p.Arg79=)
|
rs1650609306
|
|
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp)
|
rs202071045
|
|
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys)
|
rs2101154665
|
|
NM_001368809.2(AMPD2):c.2403G>A (p.Thr801=)
|
|
|
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)
|
rs553448801
|
|
NM_001368809.2(AMPD2):c.252C>T (p.Ser84=)
|
|
|
NM_001368809.2(AMPD2):c.276G>A (p.Glu92=)
|
rs2101154925
|
|
NM_001368809.2(AMPD2):c.279C>T (p.Phe93=)
|
rs2101154929
|
|
NM_001368809.2(AMPD2):c.282C>T (p.Pro94=)
|
|
|
NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)
|
|
|
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu)
|
rs1650618181
|
|
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
|
|
|
NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)
|
|
|
NM_001368809.2(AMPD2):c.321G>A (p.Gln107=)
|
|
|
NM_001368809.2(AMPD2):c.330G>A (p.Glu110=)
|
|
|
NM_001368809.2(AMPD2):c.353+3G>A
|
|
|
NM_001368809.2(AMPD2):c.353+8C>A
|
|
|
NM_001368809.2(AMPD2):c.353+8C>T
|
rs376994583
|
|
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
|
|
|
NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)
|
|
|
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg)
|
rs2101156801
|
|
NM_001368809.2(AMPD2):c.423-10C>T
|
rs1010263262
|
|
NM_001368809.2(AMPD2):c.423-6C>G
|
|
|
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
|
|
|
NM_001368809.2(AMPD2):c.456C>T (p.Asp152=)
|
|
|
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp)
|
rs373334637
|
|
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
|
|
|
NM_001368809.2(AMPD2):c.474T>C (p.Arg158=)
|
rs2101157468
|
|
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
|
|
|
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro)
|
rs138175138
|
|
NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)
|
|
|
NM_001368809.2(AMPD2):c.531+12G>A
|
rs765227765
|
|
NM_001368809.2(AMPD2):c.532-19C>T
|
|
|
NM_001368809.2(AMPD2):c.574C>A (p.Arg192=)
|
|
|
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
|
|
|
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
|
|
|
NM_001368809.2(AMPD2):c.66C>T (p.Ser22=)
|
|
|
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
|
|
|
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
|
|
|
NM_001368809.2(AMPD2):c.705C>T (p.Thr235=)
|
|
|
NM_001368809.2(AMPD2):c.719-13C>T
|
|
|
NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser)
|
rs943933650
|
|
NM_001368809.2(AMPD2):c.741G>A (p.Ala247=)
|
|
|
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
|
|
|
NM_001368809.2(AMPD2):c.756G>A (p.Pro252=)
|
|
|
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
|
|
|
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His)
|
rs749468757
|
|
NM_001368809.2(AMPD2):c.81T>C (p.Thr27=)
|
|
|
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
|
|
|
NM_001368809.2(AMPD2):c.831C>T (p.His277=)
|
|
|
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu)
|
rs770528852
|
|
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
|
|
|
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del)
|
rs1650781134
|
|
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
|
|
|
NM_001368809.2(AMPD2):c.861-3C>T
|
|
|
NM_001368809.2(AMPD2):c.91+9G>A
|
rs750556724
|
|
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)
|
|
|
NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)
|
|
|
NM_001368809.2(AMPD2):c.950+12G>C
|
|
|
NM_001368809.2(AMPD2):c.950+19C>A
|
|
|
NM_001368809.2(AMPD2):c.951-11_951-9del
|
rs2101163203
|
|
NM_001368809.2(AMPD2):c.951-7T>C
|
|
|
NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu)
|
rs746332433
|
|
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter)
|
rs1345413118
|
|
NM_002449.5(MSX2):c.116G>T (p.Arg39Leu)
|
|
|
NM_002449.5(MSX2):c.127T>C (p.Ser43Pro)
|
|
|
NM_002449.5(MSX2):c.143G>C (p.Ser48Thr)
|
rs1760741097
|
|
NM_002449.5(MSX2):c.152C>T (p.Ala51Val)
|
rs1344807799
|
|
NM_002449.5(MSX2):c.157A>C (p.Met53Leu)
|
|
|
NM_002449.5(MSX2):c.163G>C (p.Asp55His)
|
|
|
NM_002449.5(MSX2):c.177C>T (p.Pro59=)
|
|
|
NM_002449.5(MSX2):c.179A>C (p.Lys60Thr)
|
rs2113491774
|
|
NM_002449.5(MSX2):c.197C>G (p.Pro66Arg)
|
|
|
NM_002449.5(MSX2):c.197C>T (p.Pro66Leu)
|
|
|
NM_002449.5(MSX2):c.213G>T (p.Ser71=)
|
|
|
NM_002449.5(MSX2):c.215C>G (p.Ala72Gly)
|
|
|
NM_002449.5(MSX2):c.22A>C (p.Asn8His)
|
rs1760735062
|
|
NM_002449.5(MSX2):c.235C>T (p.Leu79=)
|
|
|
NM_002449.5(MSX2):c.23A>G (p.Asn8Ser)
|
|
|
NM_002449.5(MSX2):c.254del (p.Gly85fs)
|
|
|
NM_002449.5(MSX2):c.2T>C (p.Met1Thr)
|
|
|
NM_002449.5(MSX2):c.304G>C (p.Ala102Pro)
|
|
|
NM_002449.5(MSX2):c.332A>T (p.Asp111Val)
|
|
|
NM_002449.5(MSX2):c.338C>T (p.Ala113Val)
|
|
|
NM_002449.5(MSX2):c.357C>G (p.Pro119=)
|
|
|
NM_002449.5(MSX2):c.360C>T (p.Gly120=)
|
rs778509123
|
|
NM_002449.5(MSX2):c.361C>G (p.Arg121Gly)
|
|
|
NM_002449.5(MSX2):c.379+11G>A
|
|
|
NM_002449.5(MSX2):c.379+13C>T
|
|
|
NM_002449.5(MSX2):c.379+8C>G
|
rs1382294618
|
|
NM_002449.5(MSX2):c.380-11C>G
|
|
|
NM_002449.5(MSX2):c.380-16T>A
|
|
|
NM_002449.5(MSX2):c.380-17CT[3]
|
|
|
NM_002449.5(MSX2):c.380-18C>G
|
rs200429446
|
|
NM_002449.5(MSX2):c.380-18C>T
|
|
|
NM_002449.5(MSX2):c.386_387inv (p.Met129Thr)
|
|
|
NM_002449.5(MSX2):c.39C>T (p.Pro13=)
|
|
|
NM_002449.5(MSX2):c.437G>A (p.Arg146His)
|
|
|
NM_002449.5(MSX2):c.43G>A (p.Glu15Lys)
|
|
|
NM_002449.5(MSX2):c.442C>T (p.Pro148Ser)
|
rs1581520079
|
|
NM_002449.5(MSX2):c.443C>A (p.Pro148His)
|
rs104893895
|
|
NM_002449.5(MSX2):c.443C>T (p.Pro148Leu)
|
rs104893895
|
|
NM_002449.5(MSX2):c.444C>T (p.Pro148=)
|
|
|
NM_002449.5(MSX2):c.449C>G (p.Thr150Ser)
|
rs2113498683
|
|
NM_002449.5(MSX2):c.451A>G (p.Thr151Ala)
|
|
|
NM_002449.5(MSX2):c.452C>T (p.Thr151Ile)
|
|
|
NM_002449.5(MSX2):c.457C>T (p.Gln153Ter)
|
rs2113498696
|
|
NM_002449.5(MSX2):c.465C>T (p.Leu155=)
|
|
|
NM_002449.5(MSX2):c.474G>A (p.Glu158=)
|
|
|
NM_002449.5(MSX2):c.479A>G (p.Lys160Arg)
|
|
|
NM_002449.5(MSX2):c.501C>T (p.Leu167=)
|
|
|
NM_002449.5(MSX2):c.505A>G (p.Ile169Val)
|
rs2113498787
|
|
NM_002449.5(MSX2):c.50G>T (p.Gly17Val)
|
|
|
NM_002449.5(MSX2):c.528C>T (p.Ser176=)
|
|
|
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg)
|
rs1760875161
|
|
NM_002449.5(MSX2):c.591G>A (p.Ala197=)
|
|
|
NM_002449.5(MSX2):c.597A>G (p.Arg199=)
|
|
|
NM_002449.5(MSX2):c.613C>G (p.Leu205Val)
|
|
|
NM_002449.5(MSX2):c.643A>T (p.Met215Leu)
|
|
|
NM_002449.5(MSX2):c.645G>A (p.Met215Ile)
|
|
|
NM_002449.5(MSX2):c.653C>T (p.Ser218Phe)
|
|
|
NM_002449.5(MSX2):c.670T>C (p.Phe224Leu)
|
|
|
NM_002449.5(MSX2):c.683C>T (p.Ser228Leu)
|
|
|
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr)
|
rs1435910539
|
|
NM_002449.5(MSX2):c.722C>T (p.Pro241Leu)
|
|
|
NM_002449.5(MSX2):c.726C>A (p.Phe242Leu)
|
|
|
NM_002449.5(MSX2):c.73G>C (p.Gly25Arg)
|
|
|
NM_002449.5(MSX2):c.745A>G (p.Ile249Val)
|
rs1760880294
|
|
NM_002449.5(MSX2):c.762C>G (p.Leu254=)
|
|
|
NM_002449.5(MSX2):c.764A>G (p.Tyr255Cys)
|
|
|
NM_002449.5(MSX2):c.771G>A (p.Thr257=)
|
|
|
NM_002449.5(MSX2):c.789G>A (p.Met263Ile)
|
|
|
NM_002449.5(MSX2):c.798G>C (p.Leu266=)
|
|
|
NM_002601.4(PDE6D):c.117T>A (p.Ser39=)
|
rs2106261946
|
|
NM_002601.4(PDE6D):c.126T>G (p.Gly42=)
|
rs2106261935
|
|
NM_002601.4(PDE6D):c.139+14C>G
|
|
|
NM_002601.4(PDE6D):c.139+19T>C
|
|
|
NM_002601.4(PDE6D):c.139+20C>G
|
|
|
NM_002601.4(PDE6D):c.15C>T (p.Asp5=)
|
rs2106294236
|
|
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
|
|
|
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
|
|
|
NM_002601.4(PDE6D):c.183A>G (p.Arg61=)
|
rs2106261155
|
|
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
|
|
|
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
|
|
|
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
|
|
|
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
|
|
|
NM_002601.4(PDE6D):c.266-3C>T
|
rs2106260539
|
|
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
|
|
|
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro)
|
rs2106260506
|
|
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
|
|
|
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)
|
rs2048708941
|
|
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys)
|
rs1023549002
|
|
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
|
|
|
NM_002601.4(PDE6D):c.342del (p.Glu114fs)
|
|
|
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
|
|
|
NM_002601.4(PDE6D):c.372-7C>A
|
rs2048664865
|
|
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp)
|
rs2106256926
|
|
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
|
|
|
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser)
|
rs1366113264
|
|
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
|
|
|
NM_002601.4(PDE6D):c.50+7G>T
|
rs2106294152
|
|
NM_002601.4(PDE6D):c.51-12A>G
|
|
|
NM_002601.4(PDE6D):c.51-19del
|
|
|
NM_002601.4(PDE6D):c.51A>C (p.Leu17=)
|
rs1328575509
|
|
NM_002601.4(PDE6D):c.66del (p.Arg23fs)
|
rs2106261987
|
|
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
|
|
|
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp)
|
rs570163390
|
|
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
|
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.-5-146A>G
|
|
|
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu)
|
rs1261157260
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro)
|
rs1566713262
|
|
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
|
|
|
NM_003384.3(VRK1):c.1038T>C (p.Asn346=)
|
rs2139815079
|
|
NM_003384.3(VRK1):c.103_104del (p.Lys35fs)
|
rs2139748811
|
|
NM_003384.3(VRK1):c.1056A>G (p.Lys352=)
|
rs2139815109
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
NM_003384.3(VRK1):c.1059A>C (p.Thr353=)
|
rs1226336700
|
|
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
|
|
|
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
|
|
|
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
|
|
|
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1068+10G>A
|
|
|
NM_003384.3(VRK1):c.1068+17_1068+21del
|
|
|
NM_003384.3(VRK1):c.1068+20T>C
|
|
|
NM_003384.3(VRK1):c.1068+20T>G
|
|
|
NM_003384.3(VRK1):c.1068+9T>C
|
|
|
NM_003384.3(VRK1):c.1069-12T>G
|
|
|
NM_003384.3(VRK1):c.1069-17T>C
|
|
|
NM_003384.3(VRK1):c.1069-17T>G
|
|
|
NM_003384.3(VRK1):c.1069-19_1069-16del
|
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
NM_003384.3(VRK1):c.1069-9A>T
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
|
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
|
|
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
|
|
|
NM_003384.3(VRK1):c.1086T>C (p.Ile362=)
|
rs2139845833
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs)
|
rs2139845849
|
|
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)
|
rs2139748832
|
|
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg)
|
rs1470768259
|
|
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala)
|
rs1168205465
|
|
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)
|
rs2139748841
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
NM_003384.3(VRK1):c.1119G>A (p.Thr373=)
|
rs777515325
|
|
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
|
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
|
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1146G>A (p.Glu382=)
|
rs1889020417
|
|
NM_003384.3(VRK1):c.1149C>T (p.Ala383=)
|
rs1257711610
|
|
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
|
|
|
NM_003384.3(VRK1):c.1159+10A>G
|
rs756764690
|
|
NM_003384.3(VRK1):c.1159+11C>T
|
|
|
NM_003384.3(VRK1):c.1159+18G>T
|
|
|
NM_003384.3(VRK1):c.1159+1G>A
|
rs774877872
|
|
NM_003384.3(VRK1):c.1160-14G>C
|
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
NM_003384.3(VRK1):c.1160-4C>G
|
|
|
NM_003384.3(VRK1):c.1160-4C>T
|
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
NM_003384.3(VRK1):c.1160-7C>T
|
rs1251234541
|
|
NM_003384.3(VRK1):c.1160-7del
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
NM_003384.3(VRK1):c.1161T>C (p.Arg387=)
|
rs1196862965
|
|
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
|
|
|
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
|
|
|
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
|
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
|
|
|
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
|
|
|
NM_003384.3(VRK1):c.12A>T (p.Val4=)
|
|
|
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
|
|
|
NM_003384.3(VRK1):c.135A>G (p.Gln45=)
|
rs1595660598
|
|
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
|
|
|
NM_003384.3(VRK1):c.150T>C (p.Cys50=)
|
rs747562164
|
|
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)
|
rs1887100431
|
|
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
|
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.160+1del
|
|
|
NM_003384.3(VRK1):c.161-10T>C
|
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.161-6A>T
|
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.216+9T>C
|
|
|
NM_003384.3(VRK1):c.217-10A>G
|
rs2139778948
|
|
NM_003384.3(VRK1):c.217-10dup
|
|
|
NM_003384.3(VRK1):c.217-12T>C
|
|
|
NM_003384.3(VRK1):c.217-14T>C
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
NM_003384.3(VRK1):c.217-7T>C
|
rs2139778978
|
|
NM_003384.3(VRK1):c.217-8_217-7del
|
|
|
NM_003384.3(VRK1):c.217-9T>C
|
rs529433051
|
|
NM_003384.3(VRK1):c.217-9del
|
rs2139778965
|
|
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
|
|
|
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
|
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
|
|
|
NM_003384.3(VRK1):c.222del (p.Ser75fs)
|
rs2139779014
|
|
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
|
|
|
NM_003384.3(VRK1):c.238C>G (p.Leu80Val)
|
rs2139779081
|
|
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)
|
rs2139779137
|
|
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
|
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
|
|
|
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
|
|
|
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
NM_003384.3(VRK1):c.286+11C>A
|
|
|
NM_003384.3(VRK1):c.286+11C>T
|
|
|
NM_003384.3(VRK1):c.286+15A>G
|
|
|
NM_003384.3(VRK1):c.287-11T>C
|
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.287-4G>A
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-4G>T
|
rs1395180911
|
|
NM_003384.3(VRK1):c.287-7T>C
|
|
|
NM_003384.3(VRK1):c.287-8_287-7delinsTA
|
rs1064795545
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
NM_003384.3(VRK1):c.306C>G (p.Thr102=)
|
rs1326352230
|
|
NM_003384.3(VRK1):c.312G>A (p.Lys104=)
|
rs1269621133
|
|
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
|
|
|
NM_003384.3(VRK1):c.330T>C (p.Val110=)
|
|
|
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
|
|
|
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
|
|
|
NM_003384.3(VRK1):c.362_365del (p.Lys121fs)
|
rs772146380
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
NM_003384.3(VRK1):c.374+15G>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.374+7A>T
|
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
NM_003384.3(VRK1):c.375-10T>C
|
rs2139795498
|
|
NM_003384.3(VRK1):c.375-12A>G
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
NM_003384.3(VRK1):c.375-19T>C
|
|
|
NM_003384.3(VRK1):c.375-4T>C
|
|
|
NM_003384.3(VRK1):c.378C>T (p.Tyr126=)
|
rs1344283744
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
NM_003384.3(VRK1):c.381G>A (p.Arg127=)
|
rs2139795531
|
|
NM_003384.3(VRK1):c.387dup (p.Ile130fs)
|
rs2139795550
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
NM_003384.3(VRK1):c.396T>C (p.Asp132=)
|
rs2139795583
|
|
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
NM_003384.3(VRK1):c.426T>C (p.Tyr142=)
|
rs2139795639
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
|
|
|
NM_003384.3(VRK1):c.456A>G (p.Lys152=)
|
rs2139795727
|
|
NM_003384.3(VRK1):c.459T>C (p.Thr153=)
|
rs145911601
|
|
NM_003384.3(VRK1):c.462C>A (p.Val154=)
|
rs757654085
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
NM_003384.3(VRK1):c.471A>C (p.Leu157=)
|
rs2139795805
|
|
NM_003384.3(VRK1):c.474C>T (p.Ser158=)
|
rs2139795825
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
NM_003384.3(VRK1):c.483+10_483+23del
|
rs1888009081
|
|
NM_003384.3(VRK1):c.483+12A>G
|
|
|
NM_003384.3(VRK1):c.483+15T>A
|
|
|
NM_003384.3(VRK1):c.483+17C>G
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
NM_003384.3(VRK1):c.483+20dup
|
|
|
NM_003384.3(VRK1):c.483+8A>G
|
rs2139795917
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
NM_003384.3(VRK1):c.484-15A>T
|
|
|
NM_003384.3(VRK1):c.484-16T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>C
|
|
|
NM_003384.3(VRK1):c.484-18T>G
|
|
|
NM_003384.3(VRK1):c.484-5C>T
|
|
|
NM_003384.3(VRK1):c.484-6T>G
|
|
|
NM_003384.3(VRK1):c.484-6dup
|
rs2139796250
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
NM_003384.3(VRK1):c.495G>C (p.Leu165=)
|
rs2139796298
|
|
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
|
|
|
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
|
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
NM_003384.3(VRK1):c.513T>C (p.His171=)
|
rs2139796362
|
|
NM_003384.3(VRK1):c.516G>A (p.Glu172=)
|
rs2139796370
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup)
|
rs2139796397
|
|
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
|
|
|
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
NM_003384.3(VRK1):c.537G>A (p.Lys179=)
|
rs1888016926
|
|
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
|
|
|
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer)
|
rs2139796429
|
|
NM_003384.3(VRK1):c.544A>C (p.Asn182His)
|
rs745552947
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
NM_003384.3(VRK1):c.549T>C (p.Leu183=)
|
rs1888017489
|
|
NM_003384.3(VRK1):c.551T>A (p.Leu184His)
|
rs1888017746
|
|
NM_003384.3(VRK1):c.555G>C (p.Leu185=)
|
rs2139796508
|
|
NM_003384.3(VRK1):c.561C>T (p.Tyr187=)
|
rs2139796518
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
NM_003384.3(VRK1):c.576+11A>G
|
|
|
NM_003384.3(VRK1):c.576+18A>G
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.577-11del
|
|
|
NM_003384.3(VRK1):c.577-16G>C
|
|
|
NM_003384.3(VRK1):c.577-18G>A
|
|
|
NM_003384.3(VRK1):c.577-18G>T
|
|
|
NM_003384.3(VRK1):c.577-18del
|
rs759260596
|
|
NM_003384.3(VRK1):c.577-5T>C
|
|
|
NM_003384.3(VRK1):c.57T>C (p.Leu19=)
|
rs2139748645
|
|
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
|
|
|
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe)
|
rs748878251
|
|
NM_003384.3(VRK1):c.586G>C (p.Val196Leu)
|
rs372089106
|
|
NM_003384.3(VRK1):c.588A>G (p.Val196=)
|
rs1387075963
|
|
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
|
|
|
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
|
|
|
NM_003384.3(VRK1):c.603T>G (p.Ala201=)
|
rs1157448476
|
|
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
|
|
|
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
|
|
|
NM_003384.3(VRK1):c.609G>C (p.Arg203=)
|
rs1298227038
|
|
NM_003384.3(VRK1):c.615C>T (p.Cys205=)
|
rs772730428
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
|
|
|
NM_003384.3(VRK1):c.636A>G (p.Glu212=)
|
rs776975502
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.648C>T (p.Asp216=)
|
rs765348075
|
|
NM_003384.3(VRK1):c.651C>G (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.651C>T (p.Pro217=)
|
rs2139801938
|
|
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)
|
rs2139801958
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
NM_003384.3(VRK1):c.660T>C (p.Cys220=)
|
rs762979613
|
|
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
|
|
|
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
|
|
|
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
|
|
|
NM_003384.3(VRK1):c.684G>A (p.Thr228=)
|
rs753585913
|
|
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
|
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly)
|
rs757917768
|
|
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser)
|
rs2139802156
|
|
NM_003384.3(VRK1):c.705C>G (p.Gly235=)
|
rs2230532
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.709+12G>A
|
|
|
NM_003384.3(VRK1):c.709+13T>A
|
|
|
NM_003384.3(VRK1):c.709+14A>G
|
|
|
NM_003384.3(VRK1):c.709+17G>A
|
|
|
NM_003384.3(VRK1):c.709+18G>T
|
|
|
NM_003384.3(VRK1):c.709+7_709+12dup
|
|
|
NM_003384.3(VRK1):c.709+8A>G
|
|
|
NM_003384.3(VRK1):c.710-13C>G
|
|
|
NM_003384.3(VRK1):c.710-15C>G
|
rs757988438
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.710-8A>G
|
rs781693457
|
|
NM_003384.3(VRK1):c.710-9C>T
|
|
|
NM_003384.3(VRK1):c.711C>T (p.Ala237=)
|
rs2139803845
|
|
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
|
|
|
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
|
|
|
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)
|
rs1200170208
|
|
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
|
|
|
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)
|
rs1888144387
|
|
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)
|
rs768822328
|
|
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
|
|
|
NM_003384.3(VRK1):c.768T>C (p.Thr256=)
|
rs2139804008
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_003384.3(VRK1):c.779del (p.Pro260fs)
|
|
|
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)
|
rs2139804073
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
|
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
|
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
|
|
|
NM_003384.3(VRK1):c.830+12C>T
|
|
|
NM_003384.3(VRK1):c.830+16_830+20del
|
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.830+7G>A
|
rs2139804244
|
|
NM_003384.3(VRK1):c.830+9A>G
|
rs2139804260
|
|
NM_003384.3(VRK1):c.831-12A>T
|
|
|
NM_003384.3(VRK1):c.831-16C>T
|
|
|
NM_003384.3(VRK1):c.831-9T>C
|
rs2139804862
|
|
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
|
|
|
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
|
|
|
NM_003384.3(VRK1):c.864A>G (p.Lys288=)
|
rs1744342065
|
|
NM_003384.3(VRK1):c.881del (p.Asn294fs)
|
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
NM_003384.3(VRK1):c.889+10G>A
|
|
|
NM_003384.3(VRK1):c.889+10G>T
|
rs1456272984
|
|
NM_003384.3(VRK1):c.889+11A>G
|
|
|
NM_003384.3(VRK1):c.889+14T>C
|
|
|
NM_003384.3(VRK1):c.889+15C>T
|
|
|
NM_003384.3(VRK1):c.889+18C>T
|
|
|
NM_003384.3(VRK1):c.889+19A>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_003384.3(VRK1):c.889+20G>C
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+20G>T
|
rs1347150139
|
|
NM_003384.3(VRK1):c.889+8A>G
|
|
|
NM_003384.3(VRK1):c.889+9T>C
|
rs1257886278
|
|
NM_003384.3(VRK1):c.890-10A>G
|
|
|
NM_003384.3(VRK1):c.890-15G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>A
|
|
|
NM_003384.3(VRK1):c.890-19G>C
|
|
|
NM_003384.3(VRK1):c.890-22_890-15del
|
|
|
NM_003384.3(VRK1):c.890-4T>C
|
rs2139814659
|
|
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
|
|
|
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
|
|
|
NM_003384.3(VRK1):c.897del (p.Ile299fs)
|
rs2139814687
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
NM_003384.3(VRK1):c.913dup (p.Thr305fs)
|
rs2139814734
|
|
NM_003384.3(VRK1):c.915A>G (p.Thr305=)
|
rs1481654179
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
|
|
|
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
|
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
NM_003384.3(VRK1):c.967A>G (p.Ile323Val)
|
rs754315181
|
|
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
|
|
|
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
NM_003384.3(VRK1):c.972T>C (p.Leu324=)
|
rs2139814880
|
|
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
|
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003384.3(VRK1):c.984A>G (p.Leu328=)
|
rs765633672
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
NM_003384.3(VRK1):c.9T>G (p.Arg3=)
|
rs771646609
|
|
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
|
|
|
NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)
|
|
|
NM_005027.4(PIK3R2):c.1010+11G>T
|
|
|
NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp)
|
|
|
NM_005027.4(PIK3R2):c.1032C>G (p.Leu344=)
|
|
|
NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln)
|
|
|
NM_005027.4(PIK3R2):c.1035G>C (p.Arg345=)
|
|
|
NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)
|
|
|
NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=)
|
|
|
NM_005027.4(PIK3R2):c.1049G>T (p.Gly350Val)
|
|
|
NM_005027.4(PIK3R2):c.1066G>A (p.Asp356Asn)
|
rs2147952202
|
|
NM_005027.4(PIK3R2):c.1099C>G (p.Leu367Val)
|
rs903373803
|
|
NM_005027.4(PIK3R2):c.1109+14C>T
|
|
|
NM_005027.4(PIK3R2):c.1109+7G>T
|
|
|
NM_005027.4(PIK3R2):c.1110-10C>A
|
rs1599977480
|
|
NM_005027.4(PIK3R2):c.1110-16C>T
|
|
|
NM_005027.4(PIK3R2):c.1110-3C>A
|
|
|
NM_005027.4(PIK3R2):c.1110-4C>T
|
rs948209108
|
|
NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=)
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser)
|
rs1421203694
|
|
NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=)
|
|
|
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu)
|
rs771756537
|
|
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)
|
|
|
NM_005027.4(PIK3R2):c.120G>A (p.Ala40=)
|
|
|
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys)
|
|
|
NM_005027.4(PIK3R2):c.1290+12C>T
|
|
|
NM_005027.4(PIK3R2):c.1290+19G>A
|
|
|
NM_005027.4(PIK3R2):c.1291-11C>T
|
|
|
NM_005027.4(PIK3R2):c.1291-15G>A
|
rs767807584
|
|
NM_005027.4(PIK3R2):c.1317G>A (p.Val439=)
|
|
|
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=)
|
rs199931960
|
|
NM_005027.4(PIK3R2):c.132C>T (p.Ala44=)
|
|
|
NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg)
|
|
|
NM_005027.4(PIK3R2):c.1380T>C (p.Tyr460=)
|
rs2147953748
|
|
NM_005027.4(PIK3R2):c.138T>G (p.Gly46=)
|
|
|
NM_005027.4(PIK3R2):c.1410C>T (p.Thr470=)
|
|
|
NM_005027.4(PIK3R2):c.1416+14C>T
|
|
|
NM_005027.4(PIK3R2):c.1480C>T (p.Gln494Ter)
|
|
|
NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=)
|
|
|
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)
|
|
|
NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln)
|
|
|
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
|
|
|
NM_005027.4(PIK3R2):c.1559+11C>T
|
|
|
NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=)
|
|
|
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys)
|
|
|
NM_005027.4(PIK3R2):c.159C>T (p.Ser53=)
|
|
|
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
|
|
|
NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu)
|
|
|
NM_005027.4(PIK3R2):c.1665G>A (p.Glu555=)
|
|
|
NM_005027.4(PIK3R2):c.1668C>A (p.Ile556=)
|
|
|
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
|
|
|
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser)
|
rs769397940
|
|
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg)
|
rs1131691683
|
|
NM_005027.4(PIK3R2):c.1736+5G>C
|
|
|
NM_005027.4(PIK3R2):c.1736+6T>G
|
|
|
NM_005027.4(PIK3R2):c.174C>T (p.Pro58=)
|
|
|
NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg)
|
|
|
NM_005027.4(PIK3R2):c.1775A>G (p.Asn592Ser)
|
|
|
NM_005027.4(PIK3R2):c.177C>T (p.Gly59=)
|
rs557476940
|
|
NM_005027.4(PIK3R2):c.1808+11G>C
|
|
|
NM_005027.4(PIK3R2):c.1809-6C>T
|
|
|
NM_005027.4(PIK3R2):c.1809-7A>T
|
rs201271257
|
|
NM_005027.4(PIK3R2):c.1809-8dup
|
rs566994275
|
|
NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=)
|
|
|
NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=)
|
|
|
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=)
|
rs201568661
|
|
NM_005027.4(PIK3R2):c.1845G>T (p.Pro615=)
|
rs201568661
|
|
NM_005027.4(PIK3R2):c.186G>A (p.Glu62=)
|
|
|
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=)
|
rs1258315228
|
|
NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=)
|
|
|
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)
|
|
|
NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln)
|
|
|
NM_005027.4(PIK3R2):c.1977G>T (p.Val659=)
|
|
|
NM_005027.4(PIK3R2):c.1979+12G>A
|
|
|
NM_005027.4(PIK3R2):c.1980-16_1980-3del
|
|
|
NM_005027.4(PIK3R2):c.1980-4A>C
|
|
|
NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg)
|
|
|
NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu)
|
|
|
NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter)
|
rs2147945157
|
|
NM_005027.4(PIK3R2):c.2004C>G (p.Cys668Trp)
|
rs2147960455
|
|
NM_005027.4(PIK3R2):c.2074C>T (p.Leu692=)
|
rs372448001
|
|
NM_005027.4(PIK3R2):c.2085C>T (p.His695=)
|
|
|
NM_005027.4(PIK3R2):c.2094C>T (p.His698=)
|
|
|
NM_005027.4(PIK3R2):c.2133C>G (p.Thr711=)
|
|
|
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
|
|
|
NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser)
|
|
|
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)
|
|
|
NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del)
|
|
|
NM_005027.4(PIK3R2):c.216C>T (p.Gly72=)
|
|
|
NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)
|
|
|
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)
|
|
|
NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)
|
|
|
NM_005027.4(PIK3R2):c.267C>T (p.Arg89=)
|
|
|
NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)
|
|
|
NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)
|
|
|
NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr)
|
|
|
NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)
|
|
|
NM_005027.4(PIK3R2):c.322+18G>C
|
|
|
NM_005027.4(PIK3R2):c.322+18G>T
|
rs201235026
|
|
NM_005027.4(PIK3R2):c.323-8C>T
|
|
|
NM_005027.4(PIK3R2):c.327C>T (p.Leu109=)
|
|
|
NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala)
|
|
|
NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)
|
|
|
NM_005027.4(PIK3R2):c.340T>C (p.Leu114=)
|
|
|
NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)
|
|
|
NM_005027.4(PIK3R2):c.372T>C (p.Ala124=)
|
|
|
NM_005027.4(PIK3R2):c.399G>A (p.Glu133=)
|
|
|
NM_005027.4(PIK3R2):c.415+17C>T
|
|
|
NM_005027.4(PIK3R2):c.415+8C>T
|
|
|
NM_005027.4(PIK3R2):c.416-5C>G
|
|
|
NM_005027.4(PIK3R2):c.42G>C (p.Pro14=)
|
rs767495472
|
|
NM_005027.4(PIK3R2):c.453C>T (p.Pro151=)
|
rs2147949807
|
|
NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly)
|
|
|
NM_005027.4(PIK3R2):c.466+11G>T
|
rs376952388
|
|
NM_005027.4(PIK3R2):c.466+17A>G
|
|
|
NM_005027.4(PIK3R2):c.466+20G>C
|
|
|
NM_005027.4(PIK3R2):c.467-5C>T
|
|
|
NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)
|
|
|
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys)
|
rs80233027
|
|
NM_005027.4(PIK3R2):c.498C>T (p.Asp166=)
|
|
|
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
|
|
|
NM_005027.4(PIK3R2):c.546C>G (p.Pro182=)
|
|
|
NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp)
|
|
|
NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys)
|
|
|
NM_005027.4(PIK3R2):c.571_572inv (p.Ser191Glu)
|
|
|
NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)
|
|
|
NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)
|
|
|
NM_005027.4(PIK3R2):c.598+11C>T
|
|
|
NM_005027.4(PIK3R2):c.598+12G>A
|
|
|
NM_005027.4(PIK3R2):c.598+15T>C
|
|
|
NM_005027.4(PIK3R2):c.60G>A (p.Pro20=)
|
|
|
NM_005027.4(PIK3R2):c.618G>A (p.Gly206=)
|
|
|
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
|
|
|
NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly)
|
rs2147950675
|
|
NM_005027.4(PIK3R2):c.720T>C (p.Gly240=)
|
rs2043744166
|
|
NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr)
|
rs1168878327
|
|
NM_005027.4(PIK3R2):c.747C>T (p.Thr249=)
|
|
|
NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro)
|
|
|
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del)
|
rs1173823214
|
|
NM_005027.4(PIK3R2):c.777G>A (p.Pro259=)
|
|
|
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)
|
|
|
NM_005027.4(PIK3R2):c.780G>A (p.Pro260=)
|
|
|
NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro)
|
|
|
NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer)
|
|
|
NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro)
|
|
|
NM_005027.4(PIK3R2):c.810C>T (p.Pro270=)
|
|
|
NM_005027.4(PIK3R2):c.815+5GGGGC[3]
|
rs1008971604
|
|
NM_005027.4(PIK3R2):c.815+7G>A
|
rs2147950994
|
|
NM_005027.4(PIK3R2):c.816-9C>T
|
|
|
NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)
|
|
|
NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser)
|
rs112165780
|
|
NM_005027.4(PIK3R2):c.855G>A (p.Glu285=)
|
|
|
NM_005027.4(PIK3R2):c.874T>C (p.Leu292=)
|
|
|
NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys)
|
|
|
NM_005027.4(PIK3R2):c.87C>T (p.Asp29=)
|
|
|
NM_005027.4(PIK3R2):c.888G>A (p.Glu296=)
|
|
|
NM_005027.4(PIK3R2):c.903G>C (p.Ala301=)
|
|
|
NM_005027.4(PIK3R2):c.924G>A (p.Lys308=)
|
|
|
NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala)
|
|
|
NM_005027.4(PIK3R2):c.942A>T (p.Thr314=)
|
|
|
NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr)
|
|
|
NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu)
|
|
|
NM_005465.7(AKT3):c.1101A>C (p.Arg367=)
|
rs2148466016
|
|
NM_005465.7(AKT3):c.1215C>T (p.Phe405=)
|
|
|
NM_005465.7(AKT3):c.1251+15T>C
|
|
|
NM_005465.7(AKT3):c.1251+5G>T
|
rs780490457
|
|
NM_005465.7(AKT3):c.1252-10C>G
|
rs2148363624
|
|
NM_005465.7(AKT3):c.1252-20C>G
|
|
|
NM_005465.7(AKT3):c.1252-20_1252-19del
|
|
|
NM_005465.7(AKT3):c.1258C>T (p.Pro420Ser)
|
|
|
NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)
|
|
|
NM_005465.7(AKT3):c.1276G>C (p.Val426Leu)
|
rs868556430
|
|
NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr)
|
rs2148363374
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu)
|
rs1669592664
|
|
NM_005465.7(AKT3):c.172+13T>A
|
|
|
NM_005465.7(AKT3):c.173-23_173-20del
|
rs773557899
|
|
NM_005465.7(AKT3):c.224G>A (p.Arg75Lys)
|
rs1553428545
|
|
NM_005465.7(AKT3):c.238A>T (p.Thr80Ser)
|
rs1682656371
|
|
NM_005465.7(AKT3):c.273T>C (p.Thr91=)
|
rs1057522821
|
|
NM_005465.7(AKT3):c.345G>A (p.Glu115=)
|
|
|
NM_005465.7(AKT3):c.359G>A (p.Ser120Asn)
|
|
|
NM_005465.7(AKT3):c.364A>C (p.Thr122Pro)
|
|
|
NM_005465.7(AKT3):c.365C>G (p.Thr122Ser)
|
|
|
NM_005465.7(AKT3):c.404C>T (p.Ala135Val)
|
|
|
NM_005465.7(AKT3):c.429+15C>T
|
|
|
NM_005465.7(AKT3):c.430-17dup
|
rs780927904
|
|
NM_005465.7(AKT3):c.430-19T>C
|
|
|
NM_005465.7(AKT3):c.46+11C>T
|
|
|
NM_005465.7(AKT3):c.46+18C>G
|
|
|
NM_005465.7(AKT3):c.47-4G>A
|
|
|
NM_005465.7(AKT3):c.526A>G (p.Met176Val)
|
|
|
NM_005465.7(AKT3):c.540G>A (p.Lys180=)
|
|
|
NM_005465.7(AKT3):c.548T>C (p.Val183Ala)
|
|
|
NM_005465.7(AKT3):c.562-17C>T
|
|
|
NM_005465.7(AKT3):c.627+7G>A
|
|
|
NM_005465.7(AKT3):c.628-9dup
|
|
|
NM_005465.7(AKT3):c.658C>T (p.Arg220Cys)
|
|
|
NM_005465.7(AKT3):c.682G>A (p.Val228Ile)
|
rs1678068695
|
|
NM_005465.7(AKT3):c.685A>C (p.Asn229His)
|
rs530590989
|
|
NM_005465.7(AKT3):c.720G>A (p.Glu240=)
|
rs1204640048
|
|
NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys)
|
rs766197531
|
|
NM_005465.7(AKT3):c.803T>C (p.Val268Ala)
|
rs1674673024
|
|
NM_005465.7(AKT3):c.820-10T>A
|
rs370193515
|
|
NM_005465.7(AKT3):c.820-12C>G
|
rs1558618010
|
|
NM_005465.7(AKT3):c.933A>G (p.Glu311=)
|
|
|
NM_005465.7(AKT3):c.948+3A>G
|
rs2148488034
|
|
NM_005465.7(AKT3):c.948+9C>A
|
rs776361820
|
|
NM_005465.7(AKT3):c.948+9C>T
|
|
|
NM_005465.7(AKT3):c.949-18T>C
|
|
|
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr)
|
rs1064795602
|
|
NM_014846.4(WASHC5):c.1005A>G (p.Glu335=)
|
|
|
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del)
|
rs764020658
|
|
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
|
|
|
NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)
|
|
|
NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)
|
|
|
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
|
|
|
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
|
|
|
NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)
|
|
|
NM_014846.4(WASHC5):c.1151-16C>T
|
|
|
NM_014846.4(WASHC5):c.1151-2A>G
|
rs1563627853
|
|
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
|
|
|
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
|
|
|
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
|
|
|
NM_014846.4(WASHC5):c.117G>A (p.Val39=)
|
|
|
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
|
|
|
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
|
|
|
NM_014846.4(WASHC5):c.1278+13G>T
|
|
|
NM_014846.4(WASHC5):c.1341G>A (p.Ser447=)
|
|
|
NM_014846.4(WASHC5):c.1341G>T (p.Ser447=)
|
rs763975296
|
|
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)
|
rs886062653
|
|
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
|
|
|
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
|
|
|
NM_014846.4(WASHC5):c.1409-8A>C
|
rs878854986
|
|
NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)
|
|
|
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter)
|
rs1030054011
|
|
NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)
|
|
|
NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)
|
|
|
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
|
|
|
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
|
|
|
NM_014846.4(WASHC5):c.1522-20A>G
|
|
|
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
|
|
|
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=)
|
rs1374104992
|
|
NM_014846.4(WASHC5):c.1578T>C (p.Asp526=)
|
rs1340926359
|
|
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
|
|
|
NM_014846.4(WASHC5):c.1688+10del
|
rs757113799
|
|
NM_014846.4(WASHC5):c.1688+5T>G
|
|
|
NM_014846.4(WASHC5):c.1689-19G>A
|
|
|
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu)
|
rs1816510758
|
|
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)
|
rs761801345
|
|
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
|
|
|
NM_014846.4(WASHC5):c.1764+14A>G
|
|
|
NM_014846.4(WASHC5):c.1765-19T>A
|
|
|
NM_014846.4(WASHC5):c.1765-3dup
|
|
|
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)
|
rs1554593901
|
|
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)
|
rs1554593899
|
|
NM_014846.4(WASHC5):c.1788C>G (p.Pro596=)
|
|
|
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
|
|
|
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)
|
rs80338866
|
|
NM_014846.4(WASHC5):c.186+1G>C
|
|
|
NM_014846.4(WASHC5):c.186+3A>G
|
|
|
NM_014846.4(WASHC5):c.187-18T>C
|
|
|
NM_014846.4(WASHC5):c.187-6dup
|
rs745362878
|
|
NM_014846.4(WASHC5):c.1875+14C>T
|
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg)
|
rs1816420898
|
|
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu)
|
rs1586359734
|
|
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys)
|
rs768146940
|
|
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
|
|
|
NM_014846.4(WASHC5):c.1941C>T (p.His647=)
|
|
|
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val)
|
rs1188960621
|
|
NM_014846.4(WASHC5):c.1956G>T (p.Val652=)
|
|
|
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
|
|
|
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
|
|
|
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
|
|
|
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
|
|
|
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)
|
rs763639768
|
|
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
|
|
|
NM_014846.4(WASHC5):c.2016+10C>G
|
rs1260941212
|
|
NM_014846.4(WASHC5):c.2017-16T>A
|
|
|
NM_014846.4(WASHC5):c.2017-20C>A
|
rs759179193
|
|
NM_014846.4(WASHC5):c.2034T>C (p.His678=)
|
|
|
NM_014846.4(WASHC5):c.204A>G (p.Glu68=)
|
|
|
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=)
|
rs886062652
|
|
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)
|
rs1060502725
|
|
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)
|
rs397515564
|
|
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del)
|
rs1554593551
|
|
NM_014846.4(WASHC5):c.2097+3A>G
|
|
|
NM_014846.4(WASHC5):c.2098-5C>G
|
|
|
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met)
|
rs777613204
|
|
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys)
|
rs878854987
|
|
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)
|
rs1586352875
|
|
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=)
|
rs955321507
|
|
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
|
|
|
NM_014846.4(WASHC5):c.2200-18G>A
|
|
|
NM_014846.4(WASHC5):c.2238G>T (p.Ala746=)
|
rs376307168
|
|
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
|
|
|
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
|
|
|
NM_014846.4(WASHC5):c.234G>A (p.Gln78=)
|
|
|
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala)
|
rs1419129064
|
|
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)
|
rs780468544
|
|
NM_014846.4(WASHC5):c.2430G>A (p.Lys810=)
|
rs140742485
|
|
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn)
|
rs140742485
|
|
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
|
|
|
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
|
|
|
NM_014846.4(WASHC5):c.2504+5G>A
|
|
|
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val)
|
rs2130023977
|
|
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His)
|
rs2130023882
|
|
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=)
|
rs760598224
|
|
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val)
|
rs1355658998
|
|
NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)
|
|
|
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
|
|
|
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
|
|
|
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
|
|
|
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
|
|
|
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
|
|
|
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
|
|
|
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
|
|
|
NM_014846.4(WASHC5):c.2668-18G>A
|
|
|
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
|
|
|
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
|
|
|
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
|
|
|
NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)
|
|
|
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
|
|
|
NM_014846.4(WASHC5):c.2770+6T>C
|
rs2130019658
|
|
NM_014846.4(WASHC5):c.2771-17A>G
|
|
|
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser)
|
rs1815970512
|
|
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
|
|
|
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
|
|
|
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
|
|
|
NM_014846.4(WASHC5):c.2851-18del
|
|
|
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
|
|
|
NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)
|
|
|
NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)
|
|
|
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
|
|
|
NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)
|
|
|
NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)
|
|
|
NM_014846.4(WASHC5):c.2955-7C>T
|
rs767591968
|
|
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val)
|
rs1554591077
|
|
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
|
|
|
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs)
|
rs765926045
|
|
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)
|
rs767608029
|
|
NM_014846.4(WASHC5):c.3084+18A>G
|
|
|
NM_014846.4(WASHC5):c.3085-8C>T
|
|
|
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
|
|
|
NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)
|
|
|
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
|
|
|
NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=)
|
rs777978845
|
|
NM_014846.4(WASHC5):c.3182-16A>G
|
|
|
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu)
|
rs149383757
|
|
NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser)
|
rs2129964066
|
|
NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)
|
|
|
NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)
|
|
|
NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)
|
|
|
NM_014846.4(WASHC5):c.3210G>T (p.Pro1070=)
|
rs200733182
|
|
NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)
|
|
|
NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)
|
|
|
NM_014846.4(WASHC5):c.332+11A>G
|
rs755037747
|
|
NM_014846.4(WASHC5):c.332+4T>C
|
|
|
NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)
|
|
|
NM_014846.4(WASHC5):c.333-19A>G
|
rs2384916
|
|
NM_014846.4(WASHC5):c.333-19A>T
|
|
|
NM_014846.4(WASHC5):c.333-20_333-19inv
|
|
|
NM_014846.4(WASHC5):c.3335+5A>C
|
rs1815562338
|
|
NM_014846.4(WASHC5):c.3335+9G>T
|
|
|
NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn)
|
rs1324512839
|
|
NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=)
|
rs2129947881
|
|
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
|
|
|
NM_014846.4(WASHC5):c.3424-19_3424-15del
|
|
|
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
|
|
|
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
|
|
|
NM_014846.4(WASHC5):c.375C>G (p.Thr125=)
|
|
|
NM_014846.4(WASHC5):c.408A>G (p.Lys136=)
|
|
|
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg)
|
rs1563636568
|
|
NM_014846.4(WASHC5):c.417+9T>G
|
|
|
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
|
|
|
NM_014846.4(WASHC5):c.445A>G (p.Met149Val)
|
rs1817270519
|
|
NM_014846.4(WASHC5):c.450A>G (p.Leu150=)
|
rs778468473
|
|
NM_014846.4(WASHC5):c.498G>A (p.Leu166=)
|
rs1586388281
|
|
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
|
|
|
NM_014846.4(WASHC5):c.518+13T>C
|
|
|
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)
|
rs1362286755
|
|
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr)
|
rs1817146560
|
|
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)
|
rs1586384678
|
|
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
|
|
|
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
|
|
|
NM_014846.4(WASHC5):c.666C>T (p.Ile222=)
|
rs367837906
|
|
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
|
|
|
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
|
|
|
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys)
|
rs1817137048
|
|
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter)
|
rs1563633906
|
|
NM_014846.4(WASHC5):c.711+16A>G
|
|
|
NM_014846.4(WASHC5):c.712-13C>G
|
|
|
NM_014846.4(WASHC5):c.712-15G>A
|
|
|
NM_014846.4(WASHC5):c.712-16C>T
|
|
|
NM_014846.4(WASHC5):c.712-7A>G
|
|
|
NM_014846.4(WASHC5):c.720G>A (p.Ala240=)
|
rs758215702
|
|
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
|
|
|
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
|
|
|
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
|
|
|
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
|
|
|
NM_014846.4(WASHC5):c.81T>C (p.Ala27=)
|
|
|
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser)
|
rs1020805660
|
|
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu)
|
rs755946575
|
|
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
|
|
|
NM_014846.4(WASHC5):c.88T>C (p.Leu30=)
|
|
|
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter)
|
rs377540152
|
|
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)
|
|
|
NM_014846.4(WASHC5):c.93A>G (p.Arg31=)
|
rs2130220935
|
|
NM_014846.4(WASHC5):c.96C>G (p.Leu32=)
|
rs1060504698
|
|
NM_014846.4(WASHC5):c.978+20C>T
|
|
|
NM_014846.4(WASHC5):c.979-6G>A
|
|
|
NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)
|
|
|
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
|
|
|
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
|
|
|
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=)
|
rs747888353
|
|
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg)
|
rs1206102625
|
|
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
|
|
|
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=)
|
rs2097946417
|
|
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
|
|
|
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
|
|
|
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
|
|
|
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
|
|
|
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=)
|
rs2139742208
|
|
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)
|
|
|
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg)
|
rs982781639
|
|
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
|
|
|
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
|
|
|
NM_015631.6(TCTN3):c.1096-12del
|
|
|
NM_015631.6(TCTN3):c.1096-17C>G
|
|
|
NM_015631.6(TCTN3):c.1096-17C>T
|
|
|
NM_015631.6(TCTN3):c.1096-5T>G
|
|
|
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro)
|
rs200742071
|
|
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
|
|
|
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
|
|
|
NM_015631.6(TCTN3):c.114G>T (p.Leu38=)
|
rs1027956965
|
|
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
|
|
|
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
|
|
|
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
|
|
|
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=)
|
rs759892719
|
|
NM_015631.6(TCTN3):c.1164G>C (p.Gly388=)
|
rs759892719
|
|
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)
|
|
|
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
|
|
|
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr)
|
rs1432135827
|
|
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
|
|
|
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
|
|
|
NM_015631.6(TCTN3):c.1203+18G>A
|
rs1353637039
|
|
NM_015631.6(TCTN3):c.1203+20G>A
|
|
|
NM_015631.6(TCTN3):c.1203+5C>T
|
rs2139739478
|
|
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
|
|
|
NM_015631.6(TCTN3):c.1204-14C>T
|
|
|
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)
|
|
|
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe)
|
rs1008019391
|
|
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
|
|
|
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
|
|
|
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
|
|
|
NM_015631.6(TCTN3):c.1226del (p.Gly409fs)
|
|
|
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
|
|
|
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr)
|
rs2139738439
|
|
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
|
|
|
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly)
|
rs2139738378
|
|
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=)
|
rs368389310
|
|
NM_015631.6(TCTN3):c.1298+12C>T
|
|
|
NM_015631.6(TCTN3):c.1298+8T>C
|
|
|
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr)
|
rs2139738242
|
|
NM_015631.6(TCTN3):c.1299-15G>A
|
rs1589614065
|
|
NM_015631.6(TCTN3):c.1299-17A>G
|
|
|
NM_015631.6(TCTN3):c.1299-18C>T
|
rs2097944406
|
|
NM_015631.6(TCTN3):c.1299-4A>G
|
|
|
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=)
|
rs2139737404
|
|
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
|
|
|
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
|
|
|
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe)
|
rs2139737228
|
|
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs)
|
rs768525869
|
|
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
|
|
|
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
|
|
|
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
|
|
|
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)
|
|
|
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
|
|
|
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
|
|
|
NM_015631.6(TCTN3):c.138C>T (p.Thr46=)
|
rs887435654
|
|
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro)
|
rs1218187792
|
|
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
|
|
|
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg)
|
rs2097944204
|
|
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser)
|
rs1190331074
|
|
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs)
|
rs1589613893
|
|
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
|
|
|
NM_015631.6(TCTN3):c.1440C>T (p.His480=)
|
rs753883610
|
|
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu)
|
rs2139736784
|
|
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys)
|
rs2097942057
|
|
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
|
|
|
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
|
|
|
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs)
|
rs1454064691
|
|
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
|
|
|
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
|
|
|
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=)
|
rs2139731591
|
|
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
|
|
|
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
|
|
|
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
|
|
|
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs)
|
rs2139731384
|
|
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
|
|
|
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
|
|
|
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro)
|
rs765803620
|
|
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
|
|
|
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=)
|
rs201367852
|
|
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
|
|
|
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
|
|
|
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
|
|
|
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
|
|
|
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg)
|
rs1165507491
|
|
NM_015631.6(TCTN3):c.1590+14C>T
|
|
|
NM_015631.6(TCTN3):c.1590+15A>T
|
rs781078051
|
|
NM_015631.6(TCTN3):c.1590+8A>G
|
|
|
NM_015631.6(TCTN3):c.1591-7C>G
|
|
|
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
|
|
|
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr)
|
rs143735885
|
|
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
|
|
|
NM_015631.6(TCTN3):c.159G>T (p.Ala53=)
|
rs540555381
|
|
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
|
|
|
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
|
|
|
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
|
|
|
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
|
|
|
NM_015631.6(TCTN3):c.1647del (p.Thr550fs)
|
rs2139691832
|
|
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=)
|
rs2097923995
|
|
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
|
|
|
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter)
|
rs2139691743
|
|
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
|
|
|
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
|
|
|
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
|
|
|
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
|
|
|
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
|
|
|
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=)
|
rs2097923946
|
|
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys)
|
rs1352225292
|
|
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu)
|
rs1566062590
|
|
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
|
|
|
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
|
|
|
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
|
|
|
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys)
|
rs927310199
|
|
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
|
|
|
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
|
|
|
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
|
|
|
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
|
|
|
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg)
|
rs1291662541
|
|
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
|
|
|
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
|
|
|
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
|
|
|
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
|
|
|
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
|
|
|
NM_015631.6(TCTN3):c.182dup (p.Gly62fs)
|
rs763132585
|
|
NM_015631.6(TCTN3):c.18C>G (p.Leu6=)
|
rs879694012
|
|
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
|
|
|
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile)
|
rs2097955954
|
|
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
|
|
|
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
|
|
|
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
|
|
|
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu)
|
rs138495428
|
|
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
|
|
|
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
|
|
|
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
|
|
|
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val)
|
rs2139768503
|
|
NM_015631.6(TCTN3):c.256+11A>G
|
|
|
NM_015631.6(TCTN3):c.256+14T>C
|
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
|
|
|
NM_015631.6(TCTN3):c.257-13C>G
|
|
|
NM_015631.6(TCTN3):c.257-13C>T
|
rs768606622
|
|
NM_015631.6(TCTN3):c.257-22_257-19del
|
rs1426583967
|
|
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
|
|
|
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
|
|
|
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
|
|
|
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
|
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_015631.6(TCTN3):c.27G>A (p.Leu9=)
|
rs973353630
|
|
NM_015631.6(TCTN3):c.27G>T (p.Leu9=)
|
rs973353630
|
|
NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter)
|
|
|
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
|
|
|
NM_015631.6(TCTN3):c.2T>A (p.Met1Lys)
|
|
|
NM_015631.6(TCTN3):c.2T>C (p.Met1Thr)
|
|
|
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu)
|
rs2139767336
|
|
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
|
|
|
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
|
|
|
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)
|
rs2139767280
|
|
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
|
|
|
NM_015631.6(TCTN3):c.338_341del (p.His113fs)
|
rs761798713
|
|
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly)
|
rs2139767099
|
|
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser)
|
rs1165732615
|
|
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
|
|
|
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg)
|
rs1005806916
|
|
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)
|
|
|
NM_015631.6(TCTN3):c.380+16C>A
|
|
|
NM_015631.6(TCTN3):c.380+16C>T
|
|
|
NM_015631.6(TCTN3):c.381-13T>A
|
|
|
NM_015631.6(TCTN3):c.381-17C>T
|
rs1317078515
|
|
NM_015631.6(TCTN3):c.381-18C>T
|
|
|
NM_015631.6(TCTN3):c.381-9T>C
|
|
|
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg)
|
rs533262975
|
|
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
|
|
|
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
|
|
|
NM_015631.6(TCTN3):c.412_413del (p.Val138fs)
|
|
|
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu)
|
rs1489817091
|
|
NM_015631.6(TCTN3):c.435G>A (p.Pro145=)
|
rs769335959
|
|
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
|
|
|
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr)
|
rs2139764940
|
|
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
|
|
|
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
|
|
|
NM_015631.6(TCTN3):c.489T>C (p.His163=)
|
|
|
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
|
|
|
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala)
|
rs1314557393
|
|
NM_015631.6(TCTN3):c.500-14A>T
|
|
|
NM_015631.6(TCTN3):c.500-19del
|
|
|
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
|
|
|
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=)
|
rs2139750906
|
|
NM_015631.6(TCTN3):c.51C>G (p.Pro17=)
|
rs1482900802
|
|
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn)
|
rs2139769650
|
|
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
|
|
|
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val)
|
rs888815068
|
|
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
|
|
|
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
|
|
|
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
|
|
|
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
|
|
|
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
|
|
|
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu)
|
rs2139750466
|
|
NM_015631.6(TCTN3):c.615A>G (p.Pro205=)
|
rs1247615743
|
|
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
|
|
|
NM_015631.6(TCTN3):c.627+6C>G
|
|
|
NM_015631.6(TCTN3):c.628-10T>C
|
|
|
NM_015631.6(TCTN3):c.628-12T>C
|
|
|
NM_015631.6(TCTN3):c.628-14T>C
|
|
|
NM_015631.6(TCTN3):c.628-4T>C
|
rs1321301372
|
|
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu)
|
rs1406986953
|
|
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs)
|
rs749018985
|
|
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
|
|
|
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
|
|
|
NM_015631.6(TCTN3):c.675C>T (p.Ser225=)
|
rs2097949322
|
|
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
|
|
|
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
|
|
|
NM_015631.6(TCTN3):c.710del (p.Gly237fs)
|
rs779729881
|
|
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer)
|
rs1276774121
|
|
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser)
|
rs1555270274
|
|
NM_015631.6(TCTN3):c.735A>G (p.Ala245=)
|
rs2097949239
|
|
NM_015631.6(TCTN3):c.736+18G>A
|
|
|
NM_015631.6(TCTN3):c.736+19T>C
|
|
|
NM_015631.6(TCTN3):c.737-18del
|
|
|
NM_015631.6(TCTN3):c.737-1G>C
|
|
|
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)
|
|
|
NM_015631.6(TCTN3):c.754del (p.Ser252fs)
|
rs2139749042
|
|
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
|
|
|
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
|
|
|
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser)
|
rs780304630
|
|
NM_015631.6(TCTN3):c.770G>A (p.Arg257His)
|
rs758733887
|
|
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
|
|
|
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
|
|
|
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
|
|
|
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
|
|
|
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
|
|
|
NM_015631.6(TCTN3):c.793dup (p.Ser265fs)
|
|
|
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
|
|
|
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
|
|
|
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
|
|
|
NM_015631.6(TCTN3):c.847T>C (p.Leu283=)
|
rs2139748578
|
|
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu)
|
rs2139748562
|
|
NM_015631.6(TCTN3):c.851dup (p.Val285fs)
|
|
|
NM_015631.6(TCTN3):c.852+4G>A
|
rs2139748541
|
|
NM_015631.6(TCTN3):c.852+7G>A
|
rs1275344078
|
|
NM_015631.6(TCTN3):c.853-11T>C
|
|
|
NM_015631.6(TCTN3):c.853-2A>G
|
|
|
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
|
|
|
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
|
|
|
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu)
|
rs2139747266
|
|
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
|
|
|
NM_015631.6(TCTN3):c.888+13T>C
|
|
|
NM_015631.6(TCTN3):c.888+14G>T
|
rs2139747034
|
|
NM_015631.6(TCTN3):c.888+18C>A
|
|
|
NM_015631.6(TCTN3):c.888+3A>T
|
|
|
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
|
|
|
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs)
|
rs2139744863
|
|
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
|
|
|
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile)
|
rs1024201294
|
|
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs)
|
|
|
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
|
|
|
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
|
|
|
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
|
|
|
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
|
|
|
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala)
|
rs546805063
|
|
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
|
|
|
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
|
|
|
NM_015631.6(TCTN3):c.969+17C>T
|
rs2139744560
|
|
NM_015631.6(TCTN3):c.969+18A>C
|
|
|
NM_015631.6(TCTN3):c.969+19_969+37del
|
|
|
NM_015631.6(TCTN3):c.970-15C>A
|
rs773472275
|
|
NM_015631.6(TCTN3):c.970-15C>G
|
rs773472275
|
|
NM_015631.6(TCTN3):c.970-2A>G
|
rs777263669
|
|
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys)
|
rs745387147
|
|
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu)
|
rs1267152740
|
|
NM_015631.6(TCTN3):c.993T>C (p.Asn331=)
|
rs1273105227
|
|
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
|
|
|
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
|
|
|
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
|
|
|
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
|
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
|
|
|
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
|
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
|
|
|
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
|
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
|
|
|
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
|
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
|
|
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=)
|
rs1589061382
|
|
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
|
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
|
|
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
|
|
|
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
|
|
|
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
|
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
|
|
|
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
|
|
|
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
|
|
|
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
|
|
|
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
|
|
|
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
|
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=)
|
rs1294998925
|
|
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
|
|
|
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
|
|
|
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
|
|
|
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
|
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
|
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
|
|
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
|
|
|
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
|
|
|
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
|
|
|
NM_016042.4(EXOSC3):c.324+9G>T
|
|
|
NM_016042.4(EXOSC3):c.325-10C>G
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.325-20C>T
|
|
|
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
|
|
|
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
|
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
|
|
|
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
|
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
|
|
|
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
|
|
|
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)
|
rs1198691735
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs)
|
rs2118980158
|
|
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
|
|
|
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
|
|
|
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
|
|
|
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
|
|
|
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
|
|
|
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
|
|
|
NM_016042.4(EXOSC3):c.474+11G>C
|
|
|
NM_016042.4(EXOSC3):c.474+11del
|
|
|
NM_016042.4(EXOSC3):c.474+13G>A
|
|
|
NM_016042.4(EXOSC3):c.474+14C>T
|
|
|
NM_016042.4(EXOSC3):c.474+15C>T
|
|
|
NM_016042.4(EXOSC3):c.474+16T>C
|
|
|
NM_016042.4(EXOSC3):c.474+8C>T
|
|
|
NM_016042.4(EXOSC3):c.474+9G>A
|
|
|
NM_016042.4(EXOSC3):c.475-15T>A
|
|
|
NM_016042.4(EXOSC3):c.475-6T>C
|
|
|
NM_016042.4(EXOSC3):c.475-8_475-6del
|
|
|
NM_016042.4(EXOSC3):c.475-8del
|
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
|
|
|
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
|
|
|
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
|
|
|
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
|
|
|
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
|
|
|
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
|
|
|
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
|
|
|
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=)
|
rs753935327
|
|
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
|
|
|
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
|
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
NM_016042.4(EXOSC3):c.626+11A>G
|
|
|
NM_016042.4(EXOSC3):c.626+15C>G
|
|
|
NM_016042.4(EXOSC3):c.627-12_627-8del
|
rs778480656
|
|
NM_016042.4(EXOSC3):c.627-16_627-12del
|
|
|
NM_016042.4(EXOSC3):c.627-18C>A
|
|
|
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
|
|
|
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
|
|
|
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
|
|
|
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
|
|
|
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
|
|
|
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
|
|
|
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
|
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
|
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
|
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
|
|
|
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)
|
rs767942736
|
|
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
|
|
|
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
|
|
|
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
|
|
|
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)
|
rs755175121
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
|
|
|
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
|
|
|
NM_016464.5(TMEM138):c.105T>C (p.Pro35=)
|
rs1370730016
|
|
NM_016464.5(TMEM138):c.128+19T>G
|
|
|
NM_016464.5(TMEM138):c.129-10A>G
|
|
|
NM_016464.5(TMEM138):c.129-10dup
|
rs2135157730
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
NM_016464.5(TMEM138):c.129-19C>G
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.129-19C>T
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.129-3C>T
|
|
|
NM_016464.5(TMEM138):c.12C>T (p.Thr4=)
|
rs376500080
|
|
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.195C>T (p.Val65=)
|
rs2135158008
|
|
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu)
|
rs1858140604
|
|
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
|
|
|
NM_016464.5(TMEM138):c.204T>C (p.Ala68=)
|
rs2135158047
|
|
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
|
|
|
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.231G>A (p.Lys77=)
|
rs2135158146
|
|
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
|
|
|
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys)
|
rs2135158354
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016464.5(TMEM138):c.288T>C (p.His96=)
|
|
|
NM_016464.5(TMEM138):c.300+13G>A
|
rs2135158448
|
|
NM_016464.5(TMEM138):c.301-12C>T
|
|
|
NM_016464.5(TMEM138):c.301-13A>G
|
|
|
NM_016464.5(TMEM138):c.301-16C>T
|
|
|
NM_016464.5(TMEM138):c.301-18A>G
|
|
|
NM_016464.5(TMEM138):c.303C>T (p.Asn101=)
|
rs2135162983
|
|
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)
|
rs771224190
|
|
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
|
|
|
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
|
|
|
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.377-11C>T
|
rs749034092
|
|
NM_016464.5(TMEM138):c.377-19T>C
|
|
|
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val)
|
rs1045760713
|
|
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
|
|
|
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.435C>T (p.His145=)
|
|
|
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.459G>A (p.Leu153=)
|
|
|
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
|
|
|
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_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)
|
rs2135153244
|
|
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
|
|
|
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
|
rs1554416156
|
|
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
|
rs781793746
|
|
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.1042C>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
|
|
|
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)
|
rs2117546322
|
|
NM_018718.3(CEP41):c.1062C>T (p.Ala354=)
|
rs782552317
|
|
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
|
|
|
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)
|
rs781878740
|
|
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
|
rs782746850
|
|
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.1122_*1del (p.Lys373_Ter374insTer)
|
|
|
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
|
rs1797355895
|
|
NM_018718.3(CEP41):c.114A>G (p.Lys38=)
|
rs1554421037
|
|
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
|
|
|
NM_018718.3(CEP41):c.145+16G>C
|
|
|
NM_018718.3(CEP41):c.145+16G>T
|
rs2117627031
|
|
NM_018718.3(CEP41):c.145+7A>G
|
|
|
NM_018718.3(CEP41):c.146-13C>T
|
rs782677555
|
|
NM_018718.3(CEP41):c.146-9A>G
|
rs372039618
|
|
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
|
|
|
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
|
|
|
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
|
|
|
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg)
|
rs1797203213
|
|
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
|
|
|
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
|
|
|
NM_018718.3(CEP41):c.208-5A>T
|
|
|
NM_018718.3(CEP41):c.208-6T>C
|
|
|
NM_018718.3(CEP41):c.208-7C>G
|
rs782769113
|
|
NM_018718.3(CEP41):c.208-7C>T
|
rs782769113
|
|
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.253G>C (p.Ala85Pro)
|
rs946180222
|
|
NM_018718.3(CEP41):c.258G>A (p.Glu86=)
|
rs1309424611
|
|
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
|
|
|
NM_018718.3(CEP41):c.277+10del
|
rs782128369
|
|
NM_018718.3(CEP41):c.277+17G>A
|
|
|
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.278-9A>C
|
|
|
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.30T>G (p.Pro10=)
|
|
|
NM_018718.3(CEP41):c.320C>T (p.Ala107Val)
|
rs141025803
|
|
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
|
|
|
NM_018718.3(CEP41):c.33+10A>G
|
|
|
NM_018718.3(CEP41):c.33+16C>T
|
|
|
NM_018718.3(CEP41):c.33+20C>A
|
|
|
NM_018718.3(CEP41):c.33+6G>A
|
rs1798137622
|
|
NM_018718.3(CEP41):c.33G>A (p.Glu11=)
|
rs2117739865
|
|
NM_018718.3(CEP41):c.34-14del
|
|
|
NM_018718.3(CEP41):c.34-17A>G
|
|
|
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg)
|
rs782235279
|
|
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
|
|
|
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
|
|
|
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.411A>G (p.Ser137=)
|
rs1796949890
|
|
NM_018718.3(CEP41):c.422+5T>C
|
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-4G>T
|
rs1554417330
|
|
NM_018718.3(CEP41):c.423-9C>G
|
|
|
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.438T>G (p.Val146=)
|
|
|
NM_018718.3(CEP41):c.468G>A (p.Val156=)
|
rs1796891578
|
|
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg)
|
rs1554417299
|
|
NM_018718.3(CEP41):c.477del (p.Glu160fs)
|
|
|
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.513C>T (p.Cys171=)
|
rs922629262
|
|
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.574+7G>C
|
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.575-19C>T
|
|
|
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.643-16del
|
rs2117556026
|
|
NM_018718.3(CEP41):c.643-7C>G
|
|
|
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.672G>C (p.Leu224=)
|
|
|
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.705G>T (p.Ala235=)
|
rs149052906
|
|
NM_018718.3(CEP41):c.717G>T (p.Met239Ile)
|
rs2117555395
|
|
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
|
|
|
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
|
|
|
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
|
|
|
NM_018718.3(CEP41):c.757+16C>T
|
|
|
NM_018718.3(CEP41):c.757+2T>A
|
|
|
NM_018718.3(CEP41):c.757+5G>A
|
rs909436822
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|
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.7del (p.Leu3fs)
|
rs1798139951
|
|
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)
|
rs2117552856
|
|
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
|
|
|
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
|
rs782120276
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.867C>T (p.Pro289=)
|
rs782385841
|
|
NM_018718.3(CEP41):c.880del (p.Leu294fs)
|
|
|
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.954A>G (p.Gln318=)
|
rs2117551629
|
|
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
|
|
|
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
|
|
|
NM_018718.3(CEP41):c.97+12T>G
|
|
|
NM_018718.3(CEP41):c.973+16C>A
|
rs2117551370
|
|
NM_018718.3(CEP41):c.973+404_1077del
|
rs1796755672
|
|
NM_018718.3(CEP41):c.973+8del
|
rs2117551461
|
|
NM_018718.3(CEP41):c.974-11G>T
|
|
|
NM_018718.3(CEP41):c.974-14C>T
|
|
|
NM_018718.3(CEP41):c.974-19TCTT[3]
|
|
|
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.98-20A>G
|
|
|
NM_018718.3(CEP41):c.98-2A>G
|
|
|
NM_018718.3(CEP41):c.98-8C>A
|
rs782606521
|
|
NM_018718.3(CEP41):c.98-8C>T
|
|
|
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
|
rs1796760925
|
|
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
|
|
|
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile)
|
rs1437958560
|
|
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=)
|
rs757534089
|
|
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser)
|
rs1038661281
|
|
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=)
|
rs1669276096
|
|
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=)
|
rs2101075850
|
|
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs)
|
rs779442399
|
|
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg)
|
rs1558110707
|
|
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro)
|
rs1668897682
|
|
NM_022836.4(DCLRE1B):c.190-3C>G
|
rs1242019671
|
|
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln)
|
rs776471212
|
|
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val)
|
rs761321321
|
|
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile)
|
rs755192360
|
|
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser)
|
rs2101068175
|
|
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe)
|
rs1339289910
|
|
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly)
|
rs1333588223
|
|
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp)
|
rs369389853
|
|
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter)
|
rs138603501
|
|
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=)
|
rs1669111834
|
|
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=)
|
rs2101074559
|
|
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=)
|
rs574323645
|
|
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg)
|
rs1553260999
|
|
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del)
|
rs763030449
|
|
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe)
|
rs946912356
|
|
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=)
|
rs532282272
|
|
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=)
|
rs532282272
|
|
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His)
|
rs772803140
|
|
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg)
|
rs754841219
|
|
NM_022914.2(ACD):c.100C>G (p.Arg34Gly)
|
|
|
NM_022914.2(ACD):c.101G>C (p.Arg34Pro)
|
|
|
NM_022914.2(ACD):c.109C>A (p.Arg37Ser)
|
|
|
NM_022914.2(ACD):c.118G>A (p.Ala40Thr)
|
|
|
NM_022914.2(ACD):c.11G>A (p.Arg4His)
|
|
|
NM_022914.2(ACD):c.125C>T (p.Ala42Val)
|
|
|
NM_022914.2(ACD):c.133G>A (p.Val45Ile)
|
|
|
NM_022914.2(ACD):c.133G>T (p.Val45Leu)
|
|
|
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs)
|
rs764120026
|
|
NM_022914.2(ACD):c.147C>T (p.Gly49=)
|
|
|
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
|
|
|
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr)
|
rs1555542868
|
|
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
|
|
|
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
|
|
|
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
|
|
|
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
|
|
|
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
|
|
|
NM_022914.2(ACD):c.209C>T (p.Ala70Val)
|
rs758189246
|
|
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
|
|
|
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)
|
|
|
NM_022914.2(ACD):c.53C>T (p.Ser18Phe)
|
|
|
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs)
|
rs757084527
|
|
NM_022914.2(ACD):c.64G>C (p.Ala22Pro)
|
|
|
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
|
|
|
NM_022914.2(ACD):c.71G>A (p.Trp24Ter)
|
|
|
NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)
|
|
|
NM_022914.2(ACD):c.86T>A (p.Leu29Gln)
|
|
|
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
|
|
|
NM_022914.2(ACD):c.98C>A (p.Pro33His)
|
|
|
Single allele
|
|
|