NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)
|
rs115739052
|
0.01305
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_024809.5(TCTN2):c.1505+3G>C
|
rs111574617
|
0.00377
|
NM_014704.4(CEP104):c.1317+17A>C
|
rs370703159
|
0.00363
|
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr)
|
rs148773489
|
0.00266
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr)
|
rs190390987
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile)
|
rs184236039
|
0.00236
|
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_001382391.1(CSPP1):c.815G>A (p.Arg272Gln)
|
rs201609022
|
0.00214
|
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)
|
rs35765535
|
0.00213
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg)
|
rs201259375
|
0.00198
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln)
|
rs116469117
|
0.00196
|
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)
|
rs114568905
|
0.00194
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
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_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_019892.6(INPP5E):c.623C>T (p.Thr208Ile)
|
rs143107549
|
0.00177
|
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys)
|
rs200722491
|
0.00175
|
NM_017777.4(MKS1):c.12C>T (p.Thr4=)
|
rs372471169
|
0.00160
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)
|
rs190698163
|
0.00159
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu)
|
rs193231165
|
0.00156
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)
|
rs201894544
|
0.00146
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)
|
rs146264035
|
0.00143
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)
|
rs146210288
|
0.00138
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)
|
rs571588033
|
0.00135
|
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)
|
rs183168709
|
0.00129
|
NM_001077418.3(TMEM231):c.583-20A>T
|
rs375984875
|
0.00128
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
NM_001329943.3(KIAA0586):c.4430-6A>C
|
rs199732899
|
0.00118
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)
|
rs370336923
|
0.00108
|
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)
|
rs201181950
|
0.00105
|
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)
|
rs147684440
|
0.00104
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)
|
rs74880446
|
0.00100
|
NM_015272.5(RPGRIP1L):c.3701+19A>C
|
rs199926524
|
0.00099
|
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)
|
rs181413894
|
0.00096
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly)
|
rs146127619
|
0.00093
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)
|
rs139997243
|
0.00089
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)
|
rs201202020
|
0.00088
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)
|
rs371159780
|
0.00080
|
NM_001174150.2(ARL13B):c.943G>A (p.Gly315Arg)
|
rs143785315
|
0.00079
|
NM_002601.4(PDE6D):c.140-3C>T
|
rs368073853
|
0.00079
|
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=)
|
rs190706759
|
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_001082538.3(TCTN1):c.298G>A (p.Val100Met)
|
rs145478892
|
0.00073
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg)
|
rs200158932
|
0.00071
|
NM_015631.6(TCTN3):c.1764C>T (p.Val588=)
|
rs137856303
|
0.00071
|
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)
|
rs34779331
|
0.00071
|
NM_015272.5(RPGRIP1L):c.3313G>A (p.Gly1105Arg)
|
rs528501990
|
0.00070
|
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=)
|
rs77248046
|
0.00068
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=)
|
rs144543830
|
0.00065
|
NM_015631.6(TCTN3):c.280T>C (p.Leu94=)
|
rs367982164
|
0.00062
|
NM_001174150.2(ARL13B):c.59+8G>A
|
rs183229189
|
0.00061
|
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)
|
rs200707391
|
0.00061
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_019892.6(INPP5E):c.1803-20C>T
|
rs190316580
|
0.00057
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
NM_016464.5(TMEM138):c.102T>A (p.Thr34=)
|
rs139387935
|
0.00056
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)
|
rs143158234
|
0.00053
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001382391.1(CSPP1):c.3157-15A>G
|
rs199558831
|
0.00052
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
NM_025114.4(CEP290):c.4705-18C>T
|
rs199751805
|
0.00052
|
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)
|
rs145970332
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu)
|
rs139063474
|
0.00050
|
NM_025114.4(CEP290):c.6136-19T>G
|
rs377613416
|
0.00050
|
NM_015681.6(B9D1):c.567T>C (p.Asp189=)
|
rs776039881
|
0.00049
|
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
|
rs368907353
|
0.00048
|
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=)
|
rs374601841
|
0.00048
|
NM_001174150.2(ARL13B):c.130+7T>C
|
rs200527262
|
0.00047
|
NM_001174150.2(ARL13B):c.690-5G>A
|
rs373173586
|
0.00047
|
NM_014704.4(CEP104):c.2439C>T (p.Tyr813=)
|
rs78228821
|
0.00046
|
NM_014704.4(CEP104):c.843C>T (p.Ala281=)
|
rs150027992
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr)
|
rs919333754
|
0.00046
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
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_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
NM_153704.6(TMEM67):c.577-6A>G
|
rs191516556
|
0.00041
|
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=)
|
rs370003497
|
0.00040
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)
|
rs371709760
|
0.00039
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
NM_014704.4(CEP104):c.1653T>C (p.Phe551=)
|
rs141730324
|
0.00039
|
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=)
|
rs150579201
|
0.00039
|
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)
|
rs146698907
|
0.00039
|
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val)
|
rs143515432
|
0.00038
|
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)
|
rs188583221
|
0.00037
|
NM_019892.6(INPP5E):c.1464C>T (p.Val488=)
|
rs140255426
|
0.00037
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
NM_025114.4(CEP290):c.943-8A>T
|
rs200729812
|
0.00037
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_019892.6(INPP5E):c.1666-19C>T
|
rs374671289
|
0.00036
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=)
|
rs201235386
|
0.00035
|
NM_001329943.3(KIAA0586):c.3781+8A>G
|
rs368737744
|
0.00034
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
NM_002601.4(PDE6D):c.258C>T (p.Cys86=)
|
rs151191604
|
0.00034
|
NM_001044385.3(TMEM237):c.554-10G>A
|
rs371503069
|
0.00033
|
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)
|
rs201790260
|
0.00033
|
NM_001329943.3(KIAA0586):c.2554-9C>T
|
rs202018500
|
0.00033
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln)
|
rs374009466
|
0.00032
|
NM_001134831.2(AHI1):c.2373+18A>G
|
rs371919793
|
0.00032
|
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg)
|
rs142704960
|
0.00032
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)
|
rs199624987
|
0.00031
|
NM_001082538.3(TCTN1):c.1038C>T (p.Phe346=)
|
rs377300877
|
0.00031
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001329943.3(KIAA0586):c.3304+12A>G
|
rs370645135
|
0.00031
|
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)
|
rs147499316
|
0.00031
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=)
|
rs34474203
|
0.00031
|
NM_019892.6(INPP5E):c.217C>T (p.Arg73Trp)
|
rs779841260
|
0.00031
|
NM_019892.6(INPP5E):c.430C>G (p.Arg144Gly)
|
rs1479443394
|
0.00031
|
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)
|
rs370418884
|
0.00030
|
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)
|
rs191682790
|
0.00030
|
NM_001378615.1(CC2D2A):c.4315-13T>C
|
rs377685137
|
0.00030
|
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)
|
rs11860753
|
0.00030
|
NM_015272.5(RPGRIP1L):c.3702-16A>G
|
rs372739127
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=)
|
rs139175231
|
0.00029
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=)
|
rs138048667
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_018718.3(CEP41):c.423-18C>A
|
rs371925259
|
0.00029
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_153704.6(TMEM67):c.2439+17C>T
|
rs375852558
|
0.00029
|
NM_001134831.2(AHI1):c.729C>T (p.Val243=)
|
rs370392354
|
0.00028
|
NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys)
|
rs190854744
|
0.00028
|
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln)
|
rs146922115
|
0.00028
|
NM_014704.4(CEP104):c.626A>G (p.Glu209Gly)
|
rs140029326
|
0.00028
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
NM_024809.5(TCTN2):c.612C>T (p.Thr204=)
|
rs761526808
|
0.00028
|
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser)
|
rs145236803
|
0.00028
|
NM_001082538.3(TCTN1):c.1635+11C>T
|
rs369922174
|
0.00027
|
NM_001329943.3(KIAA0586):c.1254-13T>C
|
rs368443727
|
0.00027
|
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)
|
rs369476930
|
0.00027
|
NM_014704.4(CEP104):c.2766C>T (p.Tyr922=)
|
rs750794560
|
0.00027
|
NM_017777.4(MKS1):c.80+14C>T
|
rs761061379
|
0.00027
|
NM_030578.4(B9D2):c.336G>A (p.Thr112=)
|
rs139072904
|
0.00027
|
NM_001044385.3(TMEM237):c.944-16T>C
|
rs369720243
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001134831.2(AHI1):c.199A>G (p.Ile67Val)
|
rs369012543
|
0.00026
|
NM_001378615.1(CC2D2A):c.3976-18C>G
|
rs375782772
|
0.00026
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
NM_001382391.1(CSPP1):c.1094-11C>T
|
rs753835152
|
0.00026
|
NM_001382391.1(CSPP1):c.1497-13T>C
|
rs193022291
|
0.00025
|
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=)
|
rs144924117
|
0.00025
|
NM_015681.6(B9D1):c.360C>T (p.Pro120=)
|
rs139682891
|
0.00025
|
NM_001077418.3(TMEM231):c.139+42G>A
|
rs375718217
|
0.00024
|
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=)
|
rs199584658
|
0.00024
|
NM_001082538.3(TCTN1):c.713-9G>T
|
rs201293727
|
0.00024
|
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)
|
rs199554737
|
0.00024
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)
|
rs374554530
|
0.00024
|
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=)
|
rs199962946
|
0.00024
|
NM_017777.4(MKS1):c.249G>A (p.Lys83=)
|
rs62636631
|
0.00024
|
NM_024809.5(TCTN2):c.1770-20A>G
|
rs538008079
|
0.00024
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu)
|
rs368393895
|
0.00024
|
NM_001082538.3(TCTN1):c.1383G>A (p.Leu461=)
|
rs377488330
|
0.00023
|
NM_001134831.2(AHI1):c.3165+20C>T
|
rs376479301
|
0.00023
|
NM_001382391.1(CSPP1):c.2539-5T>C
|
rs555281942
|
0.00023
|
NM_016464.5(TMEM138):c.128+7G>T
|
rs560650147
|
0.00023
|
NM_001134831.2(AHI1):c.1893G>A (p.Arg631=)
|
rs376848097
|
0.00022
|
NM_001329943.3(KIAA0586):c.*2C>T
|
rs376691503
|
0.00022
|
NM_001378615.1(CC2D2A):c.2007G>A (p.Ala669=)
|
rs376644970
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_014704.4(CEP104):c.1851C>T (p.Ala617=)
|
rs150585805
|
0.00022
|
NM_015631.6(TCTN3):c.1096-14C>A
|
rs41291568
|
0.00022
|
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)
|
rs201299216
|
0.00022
|
NM_017777.4(MKS1):c.644+8G>T
|
rs370117125
|
0.00022
|
NM_001134831.2(AHI1):c.136-8C>T
|
rs370834009
|
0.00021
|
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)
|
rs370059449
|
0.00021
|
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)
|
rs188676684
|
0.00021
|
NM_001329943.3(KIAA0586):c.660C>T (p.His220=)
|
rs555609562
|
0.00021
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001378615.1(CC2D2A):c.2270C>A (p.Ala757Asp)
|
rs377188181
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
NM_015681.6(B9D1):c.369C>A (p.Val123=)
|
rs138240520
|
0.00021
|
NM_024809.5(TCTN2):c.1827C>T (p.Asp609=)
|
rs150634667
|
0.00021
|
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)
|
rs137939978
|
0.00021
|
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)
|
rs11836796
|
0.00021
|
NM_025114.4(CEP290):c.442-18T>A
|
rs532622908
|
0.00021
|
NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr)
|
rs140512094
|
0.00020
|
NM_024809.5(TCTN2):c.190+17T>C
|
rs369406967
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_025114.4(CEP290):c.853-9G>A
|
rs974759127
|
0.00020
|
NM_001077418.3(TMEM231):c.140-15C>T
|
rs201518524
|
0.00019
|
NM_001077418.3(TMEM231):c.438+12C>T
|
rs1000442477
|
0.00019
|
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=)
|
rs760162925
|
0.00019
|
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=)
|
rs767722181
|
0.00019
|
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg)
|
rs372259202
|
0.00019
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
NM_001378615.1(CC2D2A):c.3280C>G (p.Leu1094Val)
|
rs200518703
|
0.00019
|
NM_017777.4(MKS1):c.1176G>A (p.Pro392=)
|
rs775169308
|
0.00019
|
NM_019892.6(INPP5E):c.812+16C>T
|
rs756756387
|
0.00019
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
0.00018
|
NM_001378615.1(CC2D2A):c.4815T>C (p.Asn1605=)
|
rs370146822
|
0.00018
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala)
|
rs779509262
|
0.00017
|
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=)
|
rs368904420
|
0.00017
|
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)
|
rs531527716
|
0.00017
|
NM_015272.5(RPGRIP1L):c.3221-19C>T
|
rs372929131
|
0.00017
|
NM_015631.6(TCTN3):c.537T>C (p.Asn179=)
|
rs141346992
|
0.00017
|
NM_019892.6(INPP5E):c.1549+18C>T
|
rs372446887
|
0.00017
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
NM_001044385.3(TMEM237):c.79+8del
|
rs759786234
|
0.00016
|
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=)
|
rs371752653
|
0.00016
|
NM_001082538.3(TCTN1):c.1359C>T (p.Leu453=)
|
rs200935044
|
0.00016
|
NM_001134831.2(AHI1):c.2706T>C (p.Val902=)
|
rs576859418
|
0.00016
|
NM_001173990.3(TMEM216):c.51C>T (p.Ser17=)
|
rs548233683
|
0.00016
|
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=)
|
rs370408761
|
0.00016
|
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=)
|
rs190089844
|
0.00016
|
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=)
|
rs780038095
|
0.00016
|
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)
|
rs140241814
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=)
|
rs373750629
|
0.00016
|
NM_017777.4(MKS1):c.351G>A (p.Ser117=)
|
rs370781583
|
0.00016
|
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln)
|
rs148087680
|
0.00016
|
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)
|
rs200329273
|
0.00016
|
NM_001134831.2(AHI1):c.3588+15A>T
|
rs370223538
|
0.00015
|
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu)
|
rs747245461
|
0.00015
|
NM_001378615.1(CC2D2A):c.123+19C>T
|
rs142821756
|
0.00015
|
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)
|
rs371608031
|
0.00015
|
NM_001378615.1(CC2D2A):c.718-10C>T
|
rs182383712
|
0.00015
|
NM_014704.4(CEP104):c.1953C>T (p.Asp651=)
|
rs187512647
|
0.00015
|
NM_019892.6(INPP5E):c.323G>A (p.Gly108Glu)
|
rs562484803
|
0.00015
|
NM_025114.4(CEP290):c.6522+15T>C
|
rs1050903820
|
0.00015
|
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile)
|
rs561584664
|
0.00015
|
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)
|
rs369010440
|
0.00014
|
NM_001082538.3(TCTN1):c.1671C>A (p.Ser557=)
|
rs200067409
|
0.00014
|
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)
|
rs770605375
|
0.00014
|
NM_001134831.2(AHI1):c.2374-8C>T
|
rs553894171
|
0.00014
|
NM_001329943.3(KIAA0586):c.3528-12T>G
|
rs553895000
|
0.00014
|
NM_001329943.3(KIAA0586):c.4495+3790C>T
|
rs757410007
|
0.00014
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
NM_001378615.1(CC2D2A):c.423T>C (p.Thr141=)
|
rs368572539
|
0.00014
|
NM_001378615.1(CC2D2A):c.865C>A (p.Pro289Thr)
|
rs371405756
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)
|
rs141201084
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys)
|
rs200340896
|
0.00014
|
NM_017777.4(MKS1):c.959-4G>A
|
rs201137386
|
0.00014
|
NM_018718.3(CEP41):c.757+12G>T
|
rs377656524
|
0.00014
|
NM_024809.5(TCTN2):c.1394-20A>G
|
rs372424469
|
0.00014
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00014
|
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)
|
rs375966721
|
0.00014
|
NM_153704.6(TMEM67):c.1131+19A>C
|
rs747877982
|
0.00014
|
NM_153704.6(TMEM67):c.869+9A>G
|
rs372597584
|
0.00014
|
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=)
|
rs371066430
|
0.00013
|
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=)
|
rs121434349
|
0.00013
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=)
|
rs373201020
|
0.00013
|
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=)
|
rs527907908
|
0.00013
|
NM_001378615.1(CC2D2A):c.2431G>A (p.Glu811Lys)
|
rs201303853
|
0.00013
|
NM_001378615.1(CC2D2A):c.3744G>T (p.Leu1248=)
|
rs755747140
|
0.00013
|
NM_001382391.1(CSPP1):c.1245+15dup
|
rs766672873
|
0.00013
|
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met)
|
rs201142840
|
0.00013
|
NM_015272.5(RPGRIP1L):c.2874+8T>C
|
rs371853408
|
0.00013
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
NM_017777.4(MKS1):c.903C>T (p.Thr301=)
|
rs142805406
|
0.00013
|
NM_019892.6(INPP5E):c.1387+8C>T
|
rs374620221
|
0.00013
|
NM_019892.6(INPP5E):c.1697G>A (p.Gly566Asp)
|
rs140543689
|
0.00013
|
NM_019892.6(INPP5E):c.813-9C>A
|
rs771055995
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_025114.4(CEP290):c.6876C>T (p.Ser2292=)
|
rs538590274
|
0.00013
|
NM_153704.6(TMEM67):c.192T>C (p.Pro64=)
|
rs150383995
|
0.00013
|
NM_001082538.3(TCTN1):c.823-6A>G
|
rs377230085
|
0.00012
|
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln)
|
rs371243793
|
0.00012
|
NM_001329943.3(KIAA0586):c.411-1476T>G
|
rs768486087
|
0.00012
|
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=)
|
rs199688524
|
0.00012
|
NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)
|
rs113065116
|
0.00012
|
NM_001382391.1(CSPP1):c.1995C>T (p.His665=)
|
rs746724587
|
0.00012
|
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=)
|
rs369933035
|
0.00012
|
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=)
|
rs372836006
|
0.00012
|
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu)
|
rs200760486
|
0.00012
|
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=)
|
rs148808566
|
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_016464.5(TMEM138):c.414C>T (p.Ala138=)
|
rs151094420
|
0.00012
|
NM_017777.4(MKS1):c.515+8C>T
|
rs376823839
|
0.00012
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=)
|
rs377227262
|
0.00012
|
NM_153704.6(TMEM67):c.120T>C (p.Ser40=)
|
rs767999682
|
0.00012
|
NM_153704.6(TMEM67):c.312+13T>C
|
rs748077984
|
0.00012
|
NM_001077418.3(TMEM231):c.583-9G>A
|
rs371734111
|
0.00011
|
NM_001134831.2(AHI1):c.1173C>T (p.Tyr391=)
|
rs374015573
|
0.00011
|
NM_001134831.2(AHI1):c.135+19G>A
|
rs374973889
|
0.00011
|
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)
|
rs553366477
|
0.00011
|
NM_001134831.2(AHI1):c.3068C>T (p.Thr1023Ile)
|
rs370340493
|
0.00011
|
NM_001134831.2(AHI1):c.395C>T (p.Thr132Met)
|
rs756217962
|
0.00011
|
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=)
|
rs780091990
|
0.00011
|
NM_001378615.1(CC2D2A):c.1359+10A>G
|
rs373012628
|
0.00011
|
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)
|
rs768337150
|
0.00011
|
NM_001378615.1(CC2D2A):c.2595C>T (p.Pro865=)
|
rs770469717
|
0.00011
|
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)
|
rs368886216
|
0.00011
|
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)
|
rs137878385
|
0.00011
|
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)
|
rs556542553
|
0.00011
|
NM_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn)
|
rs758661538
|
0.00011
|
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=)
|
rs548142175
|
0.00011
|
NM_014704.4(CEP104):c.1950A>G (p.Pro650=)
|
rs150482833
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1029+10C>A
|
rs542635220
|
0.00011
|
NM_015631.6(TCTN3):c.1452+16T>C
|
rs779934498
|
0.00011
|
NM_015681.6(B9D1):c.479G>A (p.Arg160His)
|
rs538949071
|
0.00011
|
NM_016464.5(TMEM138):c.465G>A (p.Lys155=)
|
rs141851191
|
0.00011
|
NM_017777.4(MKS1):c.1287G>A (p.Leu429=)
|
rs555977738
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_017777.4(MKS1):c.1605C>G (p.Ala535=)
|
rs35493987
|
0.00011
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
NM_017777.4(MKS1):c.1653G>C (p.Val551=)
|
rs34092089
|
0.00011
|
NM_024809.5(TCTN2):c.588G>A (p.Thr196=)
|
rs201545344
|
0.00011
|
NM_025114.4(CEP290):c.3195G>A (p.Lys1065=)
|
rs778596948
|
0.00011
|
NM_025114.4(CEP290):c.6960+9C>T
|
rs373226012
|
0.00011
|
NM_025114.4(CEP290):c.93C>T (p.Ser31=)
|
rs375955381
|
0.00011
|
NM_001082538.3(TCTN1):c.264C>T (p.Asp88=)
|
rs373685803
|
0.00010
|
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)
|
rs371944986
|
0.00010
|
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)
|
rs372030704
|
0.00010
|
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=)
|
rs774903272
|
0.00010
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
0.00010
|
NM_001378615.1(CC2D2A):c.4303G>A (p.Gly1435Ser)
|
rs56265649
|
0.00010
|
NM_001378615.1(CC2D2A):c.4818T>C (p.Val1606=)
|
rs373897309
|
0.00010
|
NM_001378615.1(CC2D2A):c.837G>A (p.Leu279=)
|
rs771694343
|
0.00010
|
NM_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
0.00010
|
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=)
|
rs774172381
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2898A>G (p.Gln966=)
|
rs1349302634
|
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_025114.4(CEP290):c.298-15G>T
|
rs756197493
|
0.00010
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys)
|
rs573872325
|
0.00010
|
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=)
|
rs751840699
|
0.00009
|
NM_001077418.3(TMEM231):c.798A>G (p.Val266=)
|
rs772364535
|
0.00009
|
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)
|
rs201771478
|
0.00009
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
0.00009
|
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)
|
rs368077581
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001329943.3(KIAA0586):c.3859-17C>T
|
rs764917881
|
0.00009
|
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)
|
rs750833160
|
0.00009
|
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=)
|
rs533752814
|
0.00009
|
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=)
|
rs550354835
|
0.00009
|
NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala)
|
rs777351655
|
0.00009
|
NM_001378615.1(CC2D2A):c.2182-8G>A
|
rs370731685
|
0.00009
|
NM_001378615.1(CC2D2A):c.3772-4G>A
|
rs369928983
|
0.00009
|
NM_001378615.1(CC2D2A):c.3972T>C (p.Thr1324=)
|
rs201357637
|
0.00009
|
NM_001378615.1(CC2D2A):c.4314+12C>T
|
rs775304664
|
0.00009
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
NM_001378615.1(CC2D2A):c.847A>C (p.Arg283=)
|
rs201649290
|
0.00009
|
NM_001382391.1(CSPP1):c.1697+19G>T
|
rs563103826
|
0.00009
|
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu)
|
rs755021253
|
0.00009
|
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys)
|
rs763639767
|
0.00009
|
NM_001382391.1(CSPP1):c.3330+18C>A
|
rs372999075
|
0.00009
|
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val)
|
rs188917565
|
0.00009
|
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr)
|
rs145635985
|
0.00009
|
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)
|
rs375698090
|
0.00009
|
NM_015631.6(TCTN3):c.576C>T (p.Gly192=)
|
rs143020764
|
0.00009
|
NM_016464.5(TMEM138):c.129-4A>G
|
rs372877379
|
0.00009
|
NM_017777.4(MKS1):c.1338G>A (p.Arg446=)
|
rs1179924577
|
0.00009
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
NM_019892.6(INPP5E):c.1176G>A (p.Thr392=)
|
rs528176529
|
0.00009
|
NM_019892.6(INPP5E):c.1494G>A (p.Val498=)
|
rs138525676
|
0.00009
|
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)
|
rs187724945
|
0.00009
|
NM_025114.4(CEP290):c.1523-6T>C
|
rs755202424
|
0.00009
|
NM_025114.4(CEP290):c.1825-8T>G
|
rs769405843
|
0.00009
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_153704.6(TMEM67):c.978+19A>G
|
rs575288126
|
0.00009
|
NM_001044385.3(TMEM237):c.275-9T>C
|
rs749658028
|
0.00008
|
NM_001134831.2(AHI1):c.3589-16G>A
|
rs201034412
|
0.00008
|
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=)
|
rs190675549
|
0.00008
|
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=)
|
rs368984896
|
0.00008
|
NM_001329943.3(KIAA0586):c.962-14A>T
|
rs200528557
|
0.00008
|
NM_001378615.1(CC2D2A):c.1341G>A (p.Ala447=)
|
rs376651324
|
0.00008
|
NM_001378615.1(CC2D2A):c.2003+15C>T
|
rs780860390
|
0.00008
|
NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)
|
rs201946793
|
0.00008
|
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)
|
rs375243763
|
0.00008
|
NM_001378615.1(CC2D2A):c.4518A>G (p.Glu1506=)
|
rs772272007
|
0.00008
|
NM_001378615.1(CC2D2A):c.881-8C>T
|
rs114387988
|
0.00008
|
NM_014704.4(CEP104):c.113+14G>A
|
rs369214357
|
0.00008
|
NM_014704.4(CEP104):c.1485+20G>A
|
rs368037840
|
0.00008
|
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly)
|
rs547718820
|
0.00008
|
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=)
|
rs370069674
|
0.00008
|
NM_017777.4(MKS1):c.323G>A (p.Arg108His)
|
rs200331553
|
0.00008
|
NM_017777.4(MKS1):c.759G>A (p.Thr253=)
|
rs770140009
|
0.00008
|
NM_019892.6(INPP5E):c.588C>T (p.Ala196=)
|
rs368034918
|
0.00008
|
NM_024809.5(TCTN2):c.564+3A>C
|
rs761089886
|
0.00008
|
NM_024809.5(TCTN2):c.669G>A (p.Thr223=)
|
rs199981419
|
0.00008
|
NM_025114.4(CEP290):c.102+15A>G
|
rs372102947
|
0.00008
|
NM_025114.4(CEP290):c.1360-10T>C
|
rs372180862
|
0.00008
|
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)
|
rs748221725
|
0.00008
|
NM_001077418.3(TMEM231):c.310-17C>T
|
rs752375895
|
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_001134831.2(AHI1):c.1593C>T (p.Tyr531=)
|
rs370332260
|
0.00007
|
NM_001134831.2(AHI1):c.573A>C (p.Ala191=)
|
rs200993978
|
0.00007
|
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=)
|
rs199623501
|
0.00007
|
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=)
|
rs534407882
|
0.00007
|
NM_001329943.3(KIAA0586):c.962-15A>C
|
rs767414174
|
0.00007
|
NM_001378615.1(CC2D2A):c.2016G>A (p.Ser672=)
|
rs369398469
|
0.00007
|
NM_001378615.1(CC2D2A):c.2192C>T (p.Thr731Ile)
|
rs758339439
|
0.00007
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=)
|
rs762143074
|
0.00007
|
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=)
|
rs539302524
|
0.00007
|
NM_003611.3(OFD1):c.1620C>T (p.Ala540=)
|
rs142659184
|
0.00007
|
NM_003611.3(OFD1):c.2260+8A>G
|
rs768452237
|
0.00007
|
NM_003611.3(OFD1):c.2319A>G (p.Pro773=)
|
rs752137789
|
0.00007
|
NM_003611.3(OFD1):c.3024A>G (p.Leu1008=)
|
rs1015323092
|
0.00007
|
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)
|
rs202103941
|
0.00007
|
NM_014704.4(CEP104):c.561C>T (p.Tyr187=)
|
rs374191673
|
0.00007
|
NM_017777.4(MKS1):c.1134A>G (p.Glu378=)
|
rs77365082
|
0.00007
|
NM_017777.4(MKS1):c.468C>T (p.Val156=)
|
rs199684837
|
0.00007
|
NM_019892.6(INPP5E):c.1387+9G>A
|
rs202236947
|
0.00007
|
NM_019892.6(INPP5E):c.1410T>C (p.Asp470=)
|
rs138552060
|
0.00007
|
NM_019892.6(INPP5E):c.1549+19G>A
|
rs547569007
|
0.00007
|
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=)
|
rs376583223
|
0.00007
|
NM_025114.4(CEP290):c.660T>C (p.Asp220=)
|
rs777201814
|
0.00007
|
NM_153704.6(TMEM67):c.1674+14A>T
|
rs769381574
|
0.00007
|
NM_153704.6(TMEM67):c.2907+9T>C
|
rs372865972
|
0.00007
|
NM_153704.6(TMEM67):c.69C>T (p.Thr23=)
|
rs745801674
|
0.00007
|
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.210G>T (p.Val70=)
|
rs757361739
|
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_001082538.3(TCTN1):c.162C>T (p.Pro54=)
|
rs751912758
|
0.00006
|
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=)
|
rs763386832
|
0.00006
|
NM_001082538.3(TCTN1):c.939C>T (p.Asn313=)
|
rs375034561
|
0.00006
|
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=)
|
rs142518256
|
0.00006
|
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=)
|
rs185249049
|
0.00006
|
NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln)
|
rs780823419
|
0.00006
|
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys)
|
rs370101143
|
0.00006
|
NM_001134831.2(AHI1):c.708A>G (p.Lys236=)
|
rs368281930
|
0.00006
|
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)
|
rs201590073
|
0.00006
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001174150.2(ARL13B):c.270T>C (p.Tyr90=)
|
rs753336861
|
0.00006
|
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)
|
rs375770842
|
0.00006
|
NM_001174150.2(ARL13B):c.486+11T>G
|
rs367759389
|
0.00006
|
NM_001174150.2(ARL13B):c.60A>G (p.Arg20=)
|
rs765240700
|
0.00006
|
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=)
|
rs371990780
|
0.00006
|
NM_001329943.3(KIAA0586):c.2060-17A>T
|
rs753287970
|
0.00006
|
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=)
|
rs755369049
|
0.00006
|
NM_001329943.3(KIAA0586):c.411-1365C>T
|
rs905321611
|
0.00006
|
NM_001329943.3(KIAA0586):c.4496-3801G>A
|
rs575409268
|
0.00006
|
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=)
|
rs370332963
|
0.00006
|
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=)
|
rs552791846
|
0.00006
|
NM_001378615.1(CC2D2A):c.1038T>C (p.Asp346=)
|
rs377679382
|
0.00006
|
NM_001378615.1(CC2D2A):c.123+12C>A
|
rs547389759
|
0.00006
|
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)
|
rs755367503
|
0.00006
|
NM_001378615.1(CC2D2A):c.286G>A (p.Ala96Thr)
|
rs376438052
|
0.00006
|
NM_001378615.1(CC2D2A):c.3157A>G (p.Ile1053Val)
|
rs148194457
|
0.00006
|
NM_001378615.1(CC2D2A):c.3381A>G (p.Glu1127=)
|
rs373780145
|
0.00006
|
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
NM_001378615.1(CC2D2A):c.898C>T (p.Leu300Phe)
|
rs779150444
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
0.00006
|
NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg)
|
rs188018643
|
0.00006
|
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=)
|
rs370123119
|
0.00006
|
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=)
|
rs368660068
|
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_003611.3(OFD1):c.1634A>G (p.Gln545Arg)
|
rs373792491
|
0.00006
|
NM_003611.3(OFD1):c.2139C>T (p.Val713=)
|
rs764423950
|
0.00006
|
NM_003611.3(OFD1):c.2757+8G>A
|
rs766626739
|
0.00006
|
NM_003611.3(OFD1):c.282C>T (p.Phe94=)
|
rs762169661
|
0.00006
|
NM_003611.3(OFD1):c.432A>G (p.Leu144=)
|
rs759705433
|
0.00006
|
NM_014704.4(CEP104):c.1194G>A (p.Pro398=)
|
rs372294561
|
0.00006
|
NM_014704.4(CEP104):c.2649G>A (p.Pro883=)
|
rs747029336
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1071T>A (p.Leu357=)
|
rs549925964
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=)
|
rs149464542
|
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_016464.5(TMEM138):c.81C>T (p.Phe27=)
|
rs149327827
|
0.00006
|
NM_017777.4(MKS1):c.673C>T (p.Leu225=)
|
rs370632053
|
0.00006
|
NM_017777.4(MKS1):c.729G>A (p.Thr243=)
|
rs373491923
|
0.00006
|
NM_017777.4(MKS1):c.894C>T (p.Leu298=)
|
rs754839039
|
0.00006
|
NM_018718.3(CEP41):c.1032C>T (p.Ser344=)
|
rs189895981
|
0.00006
|
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
|
rs367931878
|
0.00006
|
NM_019892.6(INPP5E):c.1104C>T (p.His368=)
|
rs148592275
|
0.00006
|
NM_019892.6(INPP5E):c.1275C>T (p.Phe425=)
|
rs780525765
|
0.00006
|
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)
|
rs145543466
|
0.00006
|
NM_019892.6(INPP5E):c.1387+20G>A
|
rs200094721
|
0.00006
|
NM_019892.6(INPP5E):c.906C>T (p.Phe302=)
|
rs140222295
|
0.00006
|
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys)
|
rs200794870
|
0.00006
|
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)
|
rs372235872
|
0.00006
|
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)
|
rs553095875
|
0.00006
|
NM_024809.5(TCTN2):c.1914A>G (p.Thr638=)
|
rs769763960
|
0.00006
|
NM_024809.5(TCTN2):c.764+19G>A
|
rs371865300
|
0.00006
|
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)
|
rs777299440
|
0.00006
|
NM_025114.4(CEP290):c.1712-14T>A
|
rs765835575
|
0.00006
|
NM_025114.4(CEP290):c.189T>C (p.Ala63=)
|
rs996908777
|
0.00006
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
0.00006
|
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=)
|
rs900618917
|
0.00006
|
NM_025114.4(CEP290):c.5012+15T>C
|
rs538803349
|
0.00006
|
NM_025114.4(CEP290):c.5709+12A>G
|
rs371010287
|
0.00006
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)
|
rs556820066
|
0.00006
|
NM_025114.4(CEP290):c.6522+7T>G
|
rs754878322
|
0.00006
|
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=)
|
rs774138995
|
0.00006
|
NM_153704.6(TMEM67):c.1961-19A>G
|
rs996724179
|
0.00006
|
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=)
|
rs368159329
|
0.00006
|
NM_153704.6(TMEM67):c.279T>C (p.Pro93=)
|
rs199900812
|
0.00006
|
NM_153704.6(TMEM67):c.510C>T (p.Cys170=)
|
rs754191151
|
0.00006
|
NM_153704.6(TMEM67):c.652-13T>C
|
rs376654537
|
0.00006
|
NM_153704.6(TMEM67):c.717A>G (p.Val239=)
|
rs111991507
|
0.00006
|
NM_153704.6(TMEM67):c.869+17T>A
|
rs767408748
|
0.00006
|
NM_153704.6(TMEM67):c.870-17G>C
|
rs554004174
|
0.00006
|
NM_001044385.3(TMEM237):c.137-14C>G
|
rs760624801
|
0.00005
|
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=)
|
rs769897831
|
0.00005
|
NM_001082538.3(TCTN1):c.285C>T (p.Pro95=)
|
rs199664343
|
0.00005
|
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr)
|
rs199529768
|
0.00005
|
NM_001134831.2(AHI1):c.1566A>G (p.Pro522=)
|
rs765975049
|
0.00005
|
NM_001134831.2(AHI1):c.2037-7T>C
|
rs539801988
|
0.00005
|
NM_001134831.2(AHI1):c.2374-12T>A
|
rs557341849
|
0.00005
|
NM_001329943.3(KIAA0586):c.411-1495T>C
|
rs1364313825
|
0.00005
|
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=)
|
rs200906427
|
0.00005
|
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=)
|
rs538659713
|
0.00005
|
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=)
|
rs762154780
|
0.00005
|
NM_001378615.1(CC2D2A):c.1193G>A (p.Gly398Glu)
|
rs200429882
|
0.00005
|
NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln)
|
rs780924556
|
0.00005
|
NM_001378615.1(CC2D2A):c.1360-11G>A
|
rs181633376
|
0.00005
|
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
0.00005
|
NM_001378615.1(CC2D2A):c.282C>T (p.Gly94=)
|
rs182119485
|
0.00005
|
NM_001378615.1(CC2D2A):c.3618T>A (p.Asp1206Glu)
|
rs766400907
|
0.00005
|
NM_001378615.1(CC2D2A):c.845A>C (p.Glu282Ala)
|
rs760099299
|
0.00005
|
NM_001382391.1(CSPP1):c.3157-7C>T
|
rs750714624
|
0.00005
|
NM_002601.4(PDE6D):c.174A>G (p.Ala58=)
|
rs139835658
|
0.00005
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
NM_003611.3(OFD1):c.2010A>G (p.Pro670=)
|
rs772960582
|
0.00005
|
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=)
|
rs143189638
|
0.00005
|
NM_015272.5(RPGRIP1L):c.3701+14G>A
|
rs370009233
|
0.00005
|
NM_015272.5(RPGRIP1L):c.883-7C>A
|
rs372349467
|
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.888+10T>C
|
rs746513472
|
0.00005
|
NM_017777.4(MKS1):c.1506G>A (p.Ser502=)
|
rs368535131
|
0.00005
|
NM_017777.4(MKS1):c.498G>T (p.Arg166=)
|
rs778956664
|
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_019892.6(INPP5E):c.1035-9C>T
|
rs750624613
|
0.00005
|
NM_019892.6(INPP5E):c.1387+18G>A
|
rs758023235
|
0.00005
|
NM_019892.6(INPP5E):c.1549+11G>T
|
rs762345319
|
0.00005
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_025114.4(CEP290):c.2967A>G (p.Arg989=)
|
rs371556205
|
0.00005
|
NM_025114.4(CEP290):c.441+18T>C
|
rs756876705
|
0.00005
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_025114.4(CEP290):c.6358-4G>A
|
rs369154492
|
0.00005
|
NM_153704.6(TMEM67):c.1860+14G>T
|
rs369727716
|
0.00005
|
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)
|
rs369812327
|
0.00005
|
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=)
|
rs773344011
|
0.00004
|
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)
|
rs767711440
|
0.00004
|
NM_001044385.3(TMEM237):c.43-8C>T
|
rs759325746
|
0.00004
|
NM_001044385.3(TMEM237):c.553+9A>T
|
rs568158023
|
0.00004
|
NM_001077418.3(TMEM231):c.139+27C>T
|
rs773052053
|
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.665-10T>C
|
rs201237881
|
0.00004
|
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)
|
rs1020757759
|
0.00004
|
NM_001082538.3(TCTN1):c.1095T>C (p.His365=)
|
rs767963074
|
0.00004
|
NM_001082538.3(TCTN1):c.473-20_473-19del
|
rs762957362
|
0.00004
|
NM_001082538.3(TCTN1):c.822+18G>C
|
rs367638462
|
0.00004
|
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=)
|
rs759380913
|
0.00004
|
NM_001082538.3(TCTN1):c.927G>A (p.Pro309=)
|
rs777373658
|
0.00004
|
NM_001134831.2(AHI1):c.1281T>C (p.Asn427=)
|
rs759903519
|
0.00004
|
NM_001134831.2(AHI1):c.2374-16T>C
|
rs775777106
|
0.00004
|
NM_001134831.2(AHI1):c.2492+15G>A
|
rs535243555
|
0.00004
|
NM_001134831.2(AHI1):c.2634A>G (p.Val878=)
|
rs1036098372
|
0.00004
|
NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala)
|
rs774471595
|
0.00004
|
NM_001134831.2(AHI1):c.3192G>A (p.Ala1064=)
|
rs371494868
|
0.00004
|
NM_001134831.2(AHI1):c.3222C>A (p.Arg1074=)
|
rs61755967
|
0.00004
|
NM_001134831.2(AHI1):c.3329-20A>G
|
rs1004117268
|
0.00004
|
NM_001134831.2(AHI1):c.396G>A (p.Thr132=)
|
rs752922775
|
0.00004
|
NM_001134831.2(AHI1):c.609G>A (p.Glu203=)
|
rs748009598
|
0.00004
|
NM_001134831.2(AHI1):c.7A>G (p.Thr3Ala)
|
rs1380181596
|
0.00004
|
NM_001134831.2(AHI1):c.83G>A (p.Arg28His)
|
rs36115433
|
0.00004
|
NM_001173990.3(TMEM216):c.276C>T (p.Ser92=)
|
rs758830455
|
0.00004
|
NM_001174150.2(ARL13B):c.441A>G (p.Leu147=)
|
rs148354827
|
0.00004
|
NM_001174150.2(ARL13B):c.690-10C>T
|
rs373752093
|
0.00004
|
NM_001174150.2(ARL13B):c.690-6C>T
|
rs775646763
|
0.00004
|
NM_001174150.2(ARL13B):c.744G>A (p.Glu248=)
|
rs760160787
|
0.00004
|
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=)
|
rs750393862
|
0.00004
|
NM_001329943.3(KIAA0586):c.1885-11T>C
|
rs1344938086
|
0.00004
|
NM_001329943.3(KIAA0586):c.271-11A>G
|
rs752733321
|
0.00004
|
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=)
|
rs369590767
|
0.00004
|
NM_001329943.3(KIAA0586):c.3528-20A>G
|
rs759897107
|
0.00004
|
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=)
|
rs377467641
|
0.00004
|
NM_001329943.3(KIAA0586):c.3858+10G>A
|
rs1023641988
|
0.00004
|
NM_001329943.3(KIAA0586):c.4430-6dup
|
rs755622220
|
0.00004
|
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=)
|
rs758764999
|
0.00004
|
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=)
|
rs369143869
|
0.00004
|
NM_001329943.3(KIAA0586):c.723T>C (p.His241=)
|
rs373333959
|
0.00004
|
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)
|
rs760839591
|
0.00004
|
NM_001378615.1(CC2D2A):c.1422C>T (p.Leu474=)
|
rs377448964
|
0.00004
|
NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)
|
rs751646059
|
0.00004
|
NM_001378615.1(CC2D2A):c.1728G>A (p.Thr576=)
|
rs373277928
|
0.00004
|
NM_001378615.1(CC2D2A):c.1895A>C (p.Gln632Pro)
|
rs777510836
|
0.00004
|
NM_001378615.1(CC2D2A):c.2090T>C (p.Val697Ala)
|
rs766282869
|
0.00004
|
NM_001378615.1(CC2D2A):c.2339-15C>G
|
rs763052758
|
0.00004
|
NM_001378615.1(CC2D2A):c.243A>G (p.Pro81=)
|
rs766042434
|
0.00004
|
NM_001378615.1(CC2D2A):c.2441T>C (p.Ile814Thr)
|
rs369305472
|
0.00004
|
NM_001378615.1(CC2D2A):c.2626-11G>A
|
rs756555172
|
0.00004
|
NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln)
|
rs532411276
|
0.00004
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly)
|
rs765661601
|
0.00004
|
NM_001378615.1(CC2D2A):c.4116G>A (p.Leu1372=)
|
rs766991790
|
0.00004
|
NM_001378615.1(CC2D2A):c.415T>C (p.Leu139=)
|
rs570078140
|
0.00004
|
NM_001378615.1(CC2D2A):c.4452T>A (p.Ile1484=)
|
rs373762896
|
0.00004
|
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln)
|
rs745699870
|
0.00004
|
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=)
|
rs755838311
|
0.00004
|
NM_001382391.1(CSPP1):c.1619-4T>C
|
rs774722380
|
0.00004
|
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=)
|
rs754822898
|
0.00004
|
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=)
|
rs201940935
|
0.00004
|
NM_001382391.1(CSPP1):c.2128+16T>G
|
rs770694705
|
0.00004
|
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=)
|
rs754377738
|
0.00004
|
NM_001382391.1(CSPP1):c.2829-6C>A
|
rs202184488
|
0.00004
|
NM_001382391.1(CSPP1):c.3157-16A>G
|
rs374129705
|
0.00004
|
NM_001382391.1(CSPP1):c.484-4A>G
|
rs142440392
|
0.00004
|
NM_002601.4(PDE6D):c.50+16C>A
|
rs993589615
|
0.00004
|
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)
|
rs1374240720
|
0.00004
|
NM_003611.3(OFD1):c.1622A>T (p.Asp541Val)
|
rs369907952
|
0.00004
|
NM_003611.3(OFD1):c.2757+14C>T
|
rs755443772
|
0.00004
|
NM_003611.3(OFD1):c.2991C>T (p.Val997=)
|
rs373088434
|
0.00004
|
NM_014704.4(CEP104):c.2658G>A (p.Gln886=)
|
rs202022682
|
0.00004
|
NM_014704.4(CEP104):c.2662+10A>T
|
rs552644535
|
0.00004
|
NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly)
|
rs755406055
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1029+12A>G
|
rs374781718
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1029+19T>C
|
rs370612492
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1104-13G>A
|
rs775179294
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1244-18G>A
|
rs923409583
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=)
|
rs376335724
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1375T>C (p.Leu459=)
|
rs766752672
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1582-11T>G
|
rs182981308
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1699+11T>C
|
rs189805541
|
0.00004
|
NM_015272.5(RPGRIP1L):c.201T>C (p.His67=)
|
rs762755851
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=)
|
rs145807002
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3061-18G>A
|
rs1231406468
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)
|
rs989489575
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3903C>T (p.Ala1301=)
|
rs773361667
|
0.00004
|
NM_015631.6(TCTN3):c.1591-12T>C
|
rs373643964
|
0.00004
|
NM_015631.6(TCTN3):c.381-19C>G
|
rs759096352
|
0.00004
|
NM_015681.6(B9D1):c.33C>T (p.Leu11=)
|
rs751480715
|
0.00004
|
NM_017777.4(MKS1):c.1273+7G>A
|
rs569463908
|
0.00004
|
NM_017777.4(MKS1):c.1274-4G>A
|
rs377033778
|
0.00004
|
NM_017777.4(MKS1):c.191-6T>G
|
rs748412372
|
0.00004
|
NM_017777.4(MKS1):c.261+20C>A
|
rs370117635
|
0.00004
|
NM_017777.4(MKS1):c.417+17G>C
|
rs780446139
|
0.00004
|
NM_017777.4(MKS1):c.644+10G>A
|
rs544053540
|
0.00004
|
NM_017777.4(MKS1):c.70T>C (p.Leu24=)
|
rs538371478
|
0.00004
|
NM_017777.4(MKS1):c.822G>A (p.Pro274=)
|
rs375557871
|
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_019892.6(INPP5E):c.1266G>A (p.Thr422=)
|
rs749680652
|
0.00004
|
NM_019892.6(INPP5E):c.1280-10G>A
|
rs780428016
|
0.00004
|
NM_019892.6(INPP5E):c.1287C>T (p.Asp429=)
|
rs969546384
|
0.00004
|
NM_019892.6(INPP5E):c.1388-5C>T
|
rs187956407
|
0.00004
|
NM_019892.6(INPP5E):c.1500C>T (p.Asp500=)
|
rs372142221
|
0.00004
|
NM_019892.6(INPP5E):c.1626G>A (p.Thr542=)
|
rs150464071
|
0.00004
|
NM_019892.6(INPP5E):c.1758T>C (p.Pro586=)
|
rs1222127887
|
0.00004
|
NM_019892.6(INPP5E):c.1881G>A (p.Gln627=)
|
rs144720715
|
0.00004
|
NM_019892.6(INPP5E):c.516G>T (p.Pro172=)
|
rs372551521
|
0.00004
|
NM_019892.6(INPP5E):c.945G>A (p.Pro315=)
|
rs753567429
|
0.00004
|
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)
|
rs543166165
|
0.00004
|
NM_024809.5(TCTN2):c.1572C>T (p.Ser524=)
|
rs367689968
|
0.00004
|
NM_024809.5(TCTN2):c.1612+11C>T
|
rs376075139
|
0.00004
|
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=)
|
rs201834126
|
0.00004
|
NM_024809.5(TCTN2):c.1895+12G>A
|
rs1248269049
|
0.00004
|
NM_024809.5(TCTN2):c.273G>A (p.Val91=)
|
rs375065995
|
0.00004
|
NM_024809.5(TCTN2):c.429T>C (p.Ile143=)
|
rs188417716
|
0.00004
|
NM_024809.5(TCTN2):c.465G>A (p.Glu155=)
|
rs150583279
|
0.00004
|
NM_024809.5(TCTN2):c.468C>T (p.Asn156=)
|
rs771396774
|
0.00004
|
NM_024809.5(TCTN2):c.83-16T>G
|
rs1223559773
|
0.00004
|
NM_024809.5(TCTN2):c.960C>T (p.Cys320=)
|
rs145332333
|
0.00004
|
NM_025114.4(CEP290):c.1104C>T (p.Thr368=)
|
rs483352755
|
0.00004
|
NM_025114.4(CEP290):c.1905T>C (p.Asn635=)
|
rs778341097
|
0.00004
|
NM_025114.4(CEP290):c.204G>A (p.Leu68=)
|
rs780930630
|
0.00004
|
NM_025114.4(CEP290):c.2217+6A>G
|
rs139027723
|
0.00004
|
NM_025114.4(CEP290):c.2218-5T>C
|
rs939517627
|
0.00004
|
NM_025114.4(CEP290):c.2244T>C (p.Ser748=)
|
rs979564116
|
0.00004
|
NM_025114.4(CEP290):c.2784T>C (p.Val928=)
|
rs774271927
|
0.00004
|
NM_025114.4(CEP290):c.288T>C (p.Asn96=)
|
rs367691481
|
0.00004
|
NM_025114.4(CEP290):c.2907C>T (p.Tyr969=)
|
rs376462144
|
0.00004
|
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=)
|
rs771584252
|
0.00004
|
NM_025114.4(CEP290):c.3462-11T>C
|
rs1296210160
|
0.00004
|
NM_025114.4(CEP290):c.3747C>T (p.Leu1249=)
|
rs779178851
|
0.00004
|
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=)
|
rs769060806
|
0.00004
|
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=)
|
rs779186037
|
0.00004
|
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)
|
rs372592245
|
0.00004
|
NM_025114.4(CEP290):c.4963A>C (p.Arg1655=)
|
rs1161295348
|
0.00004
|
NM_025114.4(CEP290):c.5012+11G>A
|
rs778779951
|
0.00004
|
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)
|
rs780570235
|
0.00004
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
NM_025114.4(CEP290):c.6271-15C>T
|
rs764251517
|
0.00004
|
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)
|
rs765709669
|
0.00004
|
NM_030578.4(B9D2):c.309G>A (p.Pro103=)
|
rs201735642
|
0.00004
|
NM_030578.4(B9D2):c.495C>T (p.Leu165=)
|
rs542445852
|
0.00004
|
NM_030578.4(B9D2):c.89-15C>T
|
rs371483684
|
0.00004
|
NM_153704.6(TMEM67):c.1412+19A>G
|
rs757870971
|
0.00004
|
NM_153704.6(TMEM67):c.1413-12T>G
|
rs369870113
|
0.00004
|
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)
|
rs774288177
|
0.00004
|
NM_153704.6(TMEM67):c.1773+10T>C
|
rs371485093
|
0.00004
|
NM_153704.6(TMEM67):c.261C>T (p.Ile87=)
|
rs190249177
|
0.00004
|
NM_153704.6(TMEM67):c.2765-12T>A
|
rs1232793342
|
0.00004
|
NM_153704.6(TMEM67):c.313-19T>C
|
rs748779738
|
0.00004
|
NM_153704.6(TMEM67):c.507-16T>C
|
rs367547273
|
0.00004
|
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
|
rs879874108
|
0.00003
|
NM_001044385.3(TMEM237):c.75-8C>T
|
rs1274569461
|
0.00003
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
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_001082538.3(TCTN1):c.1059C>T (p.Ser353=)
|
rs370906446
|
0.00003
|
NM_001082538.3(TCTN1):c.1350G>A (p.Pro450=)
|
rs781366326
|
0.00003
|
NM_001082538.3(TCTN1):c.1494+20G>A
|
rs1024500142
|
0.00003
|
NM_001082538.3(TCTN1):c.21G>T (p.Pro7=)
|
rs760813360
|
0.00003
|
NM_001082538.3(TCTN1):c.559T>C (p.Leu187=)
|
rs376935369
|
0.00003
|
NM_001082538.3(TCTN1):c.612T>A (p.Ala204=)
|
rs983405128
|
0.00003
|
NM_001082538.3(TCTN1):c.810G>A (p.Pro270=)
|
rs771664440
|
0.00003
|
NM_001082538.3(TCTN1):c.817C>T (p.Leu273=)
|
rs775207770
|
0.00003
|
NM_001134831.2(AHI1):c.1151+12T>A
|
rs1287645080
|
0.00003
|
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=)
|
rs548478362
|
0.00003
|
NM_001134831.2(AHI1):c.190-9T>C
|
rs548312029
|
0.00003
|
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=)
|
rs764412921
|
0.00003
|
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)
|
rs200017073
|
0.00003
|
NM_001134831.2(AHI1):c.2922G>A (p.Thr974=)
|
rs369365764
|
0.00003
|
NM_001134831.2(AHI1):c.3012T>C (p.Thr1004=)
|
rs1327430611
|
0.00003
|
NM_001134831.2(AHI1):c.3109+12T>A
|
rs1229367138
|
0.00003
|
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=)
|
rs1016306200
|
0.00003
|
NM_001134831.2(AHI1):c.852A>G (p.Ser284=)
|
rs373466889
|
0.00003
|
NM_001134831.2(AHI1):c.931+8A>G
|
rs763944345
|
0.00003
|
NM_001134831.2(AHI1):c.932-6G>A
|
rs770083131
|
0.00003
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln)
|
rs550306731
|
0.00003
|
NM_001174150.2(ARL13B):c.120A>G (p.Gly40=)
|
rs774691904
|
0.00003
|
NM_001174150.2(ARL13B):c.912T>A (p.Val304=)
|
rs1217967570
|
0.00003
|
NM_001329943.3(KIAA0586):c.1656+4T>C
|
rs368165741
|
0.00003
|
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=)
|
rs1356132325
|
0.00003
|
NM_001329943.3(KIAA0586):c.2944+13G>T
|
rs377092455
|
0.00003
|
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=)
|
rs749756433
|
0.00003
|
NM_001329943.3(KIAA0586):c.3781+20T>G
|
rs770866188
|
0.00003
|
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=)
|
rs768806838
|
0.00003
|
NM_001378615.1(CC2D2A):c.192G>A (p.Val64=)
|
rs745986665
|
0.00003
|
NM_001378615.1(CC2D2A):c.2004-12C>A
|
rs141372003
|
0.00003
|
NM_001378615.1(CC2D2A):c.2083A>C (p.Arg695=)
|
rs750219979
|
0.00003
|
NM_001378615.1(CC2D2A):c.2181+17T>C
|
rs1016233369
|
0.00003
|
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)
|
rs1379770755
|
0.00003
|
NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg)
|
rs367560550
|
0.00003
|
NM_001378615.1(CC2D2A):c.2487-17T>C
|
rs909380640
|
0.00003
|
NM_001378615.1(CC2D2A):c.2922+16T>C
|
rs767460385
|
0.00003
|
NM_001378615.1(CC2D2A):c.3084G>C (p.Arg1028=)
|
rs373698524
|
0.00003
|
NM_001378615.1(CC2D2A):c.3153C>T (p.Tyr1051=)
|
rs373671064
|
0.00003
|
NM_001378615.1(CC2D2A):c.388C>T (p.Arg130Cys)
|
rs886042463
|
0.00003
|
NM_001378615.1(CC2D2A):c.3975+19A>G
|
rs758410900
|
0.00003
|
NM_001378615.1(CC2D2A):c.4194T>C (p.Tyr1398=)
|
rs752902174
|
0.00003
|
NM_001378615.1(CC2D2A):c.439-13T>G
|
rs1305181844
|
0.00003
|
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)
|
rs200044412
|
0.00003
|
NM_001378615.1(CC2D2A):c.948C>T (p.Thr316=)
|
rs201439700
|
0.00003
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
NM_001382391.1(CSPP1):c.1698-15G>A
|
rs777747860
|
0.00003
|
NM_001382391.1(CSPP1):c.2133T>C (p.His711=)
|
rs755593188
|
0.00003
|
NM_001382391.1(CSPP1):c.2711-15A>G
|
rs756159198
|
0.00003
|
NM_001382391.1(CSPP1):c.3221-14C>T
|
rs202201525
|
0.00003
|
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=)
|
rs376215036
|
0.00003
|
NM_003611.3(OFD1):c.1839T>C (p.Thr613=)
|
rs760463802
|
0.00003
|
NM_003611.3(OFD1):c.2100G>A (p.Glu700=)
|
rs780655531
|
0.00003
|
NM_003611.3(OFD1):c.2261-8C>T
|
rs374969350
|
0.00003
|
NM_003611.3(OFD1):c.2538C>T (p.Ala846=)
|
rs201362700
|
0.00003
|
NM_003611.3(OFD1):c.2708A>T (p.Glu903Val)
|
rs761100130
|
0.00003
|
NM_003611.3(OFD1):c.2938A>C (p.Lys980Gln)
|
rs748952285
|
0.00003
|
NM_003611.3(OFD1):c.412+10G>A
|
rs201837087
|
0.00003
|
NM_003611.3(OFD1):c.517+8T>C
|
rs373361154
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1103+7C>T
|
rs761579460
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1104-14C>T
|
rs763897513
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1351-7A>G
|
rs559918716
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2103C>T (p.His701=)
|
rs540930741
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2262G>A (p.Gly754=)
|
rs775616241
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=)
|
rs758547965
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2403C>T (p.His801=)
|
rs1390109484
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2875-19A>G
|
rs370091137
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3433-8T>G
|
rs757913656
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)
|
rs762140481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.529+17G>A
|
rs754295905
|
0.00003
|
NM_015272.5(RPGRIP1L):c.530-7T>C
|
rs780569188
|
0.00003
|
NM_015272.5(RPGRIP1L):c.776+13A>C
|
rs772348382
|
0.00003
|
NM_015272.5(RPGRIP1L):c.840T>C (p.Asn280=)
|
rs781135802
|
0.00003
|
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=)
|
rs771848227
|
0.00003
|
NM_015631.6(TCTN3):c.153A>G (p.Ser51=)
|
rs937027387
|
0.00003
|
NM_015631.6(TCTN3):c.18C>T (p.Leu6=)
|
rs879694012
|
0.00003
|
NM_015681.6(B9D1):c.381G>A (p.Thr127=)
|
rs755165652
|
0.00003
|
NM_017777.4(MKS1):c.1024+10A>G
|
rs749001732
|
0.00003
|
NM_017777.4(MKS1):c.1095+18G>A
|
rs371273226
|
0.00003
|
NM_017777.4(MKS1):c.1260G>A (p.Leu420=)
|
rs749099410
|
0.00003
|
NM_017777.4(MKS1):c.1274-5C>T
|
rs762686385
|
0.00003
|
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)
|
rs367625961
|
0.00003
|
NM_017777.4(MKS1):c.1408-15A>G
|
rs762989365
|
0.00003
|
NM_017777.4(MKS1):c.252C>G (p.Leu84=)
|
rs969699321
|
0.00003
|
NM_017777.4(MKS1):c.30C>T (p.Thr10=)
|
rs576239597
|
0.00003
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
NM_017777.4(MKS1):c.543C>T (p.Ile181=)
|
rs1156392394
|
0.00003
|
NM_017777.4(MKS1):c.585C>T (p.His195=)
|
rs200628275
|
0.00003
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu)
|
rs770088105
|
0.00003
|
NM_017777.4(MKS1):c.858+7G>A
|
rs918270665
|
0.00003
|
NM_017777.4(MKS1):c.918T>C (p.Thr306=)
|
rs373269341
|
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.510C>T (p.Asp170=)
|
rs782083906
|
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.757+11T>C
|
rs1050676312
|
0.00003
|
NM_019892.6(INPP5E):c.1095G>A (p.Ser365=)
|
rs748104868
|
0.00003
|
NM_019892.6(INPP5E):c.1098G>A (p.Ala366=)
|
rs374142756
|
0.00003
|
NM_019892.6(INPP5E):c.1374T>C (p.Tyr458=)
|
rs886038652
|
0.00003
|
NM_019892.6(INPP5E):c.1614C>T (p.Ile538=)
|
rs778220171
|
0.00003
|
NM_019892.6(INPP5E):c.1666-20C>T
|
rs1564431321
|
0.00003
|
NM_019892.6(INPP5E):c.1716C>T (p.Ser572=)
|
rs888610698
|
0.00003
|
NM_019892.6(INPP5E):c.1802+15G>A
|
rs745341543
|
0.00003
|
NM_019892.6(INPP5E):c.528C>T (p.Ala176=)
|
rs561511490
|
0.00003
|
NM_019892.6(INPP5E):c.843C>T (p.Ser281=)
|
rs375981295
|
0.00003
|
NM_024809.5(TCTN2):c.1440T>C (p.Phe480=)
|
rs760942775
|
0.00003
|
NM_024809.5(TCTN2):c.444T>C (p.Ser148=)
|
rs771060074
|
0.00003
|
NM_024809.5(TCTN2):c.630C>T (p.Asp210=)
|
rs560269152
|
0.00003
|
NM_024809.5(TCTN2):c.83-9C>G
|
rs775671051
|
0.00003
|
NM_025114.4(CEP290):c.1386C>T (p.Val462=)
|
rs886038689
|
0.00003
|
NM_025114.4(CEP290):c.2368-7T>C
|
rs1470044444
|
0.00003
|
NM_025114.4(CEP290):c.3246C>T (p.His1082=)
|
rs539042966
|
0.00003
|
NM_025114.4(CEP290):c.3310-7T>G
|
rs373298179
|
0.00003
|
NM_025114.4(CEP290):c.3462-12A>G
|
rs778134699
|
0.00003
|
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=)
|
rs777382672
|
0.00003
|
NM_025114.4(CEP290):c.4195-9T>C
|
rs546957016
|
0.00003
|
NM_025114.4(CEP290):c.442-20_442-19insA
|
rs772322663
|
0.00003
|
NM_025114.4(CEP290):c.4438-7A>G
|
rs764079476
|
0.00003
|
NM_025114.4(CEP290):c.4707G>A (p.Glu1569=)
|
rs376242512
|
0.00003
|
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=)
|
rs368906813
|
0.00003
|
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=)
|
rs561598805
|
0.00003
|
NM_025114.4(CEP290):c.6090T>C (p.His2030=)
|
rs1055944923
|
0.00003
|
NM_025114.4(CEP290):c.6523-6T>C
|
rs794727692
|
0.00003
|
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=)
|
rs751895513
|
0.00003
|
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)
|
rs572443869
|
0.00003
|
NM_025114.4(CEP290):c.7034+10G>A
|
rs1057522783
|
0.00003
|
NM_025114.4(CEP290):c.852+14T>C
|
rs571313482
|
0.00003
|
NM_153704.6(TMEM67):c.1412+18G>T
|
rs771301847
|
0.00003
|
NM_153704.6(TMEM67):c.1983C>T (p.Ala661=)
|
rs1297734907
|
0.00003
|
NM_153704.6(TMEM67):c.2208T>C (p.Ser736=)
|
rs1436606444
|
0.00003
|
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)
|
rs886038738
|
0.00003
|
NM_153704.6(TMEM67):c.652-16A>G
|
rs569346767
|
0.00003
|
NM_153704.6(TMEM67):c.978+13A>G
|
rs760659884
|
0.00003
|
NM_001044385.3(TMEM237):c.274+18G>A
|
rs762194214
|
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_001077418.3(TMEM231):c.140-35C>T
|
rs750621210
|
0.00002
|
NM_001077418.3(TMEM231):c.309+20G>T
|
rs1186787656
|
0.00002
|
NM_001077418.3(TMEM231):c.456G>A (p.Val152=)
|
rs571562822
|
0.00002
|
NM_001077418.3(TMEM231):c.582+9G>A
|
rs1266194059
|
0.00002
|
NM_001082538.3(TCTN1):c.1149C>T (p.Val383=)
|
rs759588884
|
0.00002
|
NM_001082538.3(TCTN1):c.1167T>A (p.Ala389=)
|
rs754192411
|
0.00002
|
NM_001082538.3(TCTN1):c.1740T>C (p.Asn580=)
|
rs376626018
|
0.00002
|
NM_001082538.3(TCTN1):c.237C>G (p.Val79=)
|
rs374598052
|
0.00002
|
NM_001082538.3(TCTN1):c.597G>T (p.Leu199=)
|
rs950880140
|
0.00002
|
NM_001082538.3(TCTN1):c.621T>C (p.Tyr207=)
|
rs757534239
|
0.00002
|
NM_001082538.3(TCTN1):c.954C>T (p.Ser318=)
|
rs372535670
|
0.00002
|
NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val)
|
rs748804342
|
0.00002
|
NM_001134831.2(AHI1):c.108A>G (p.Lys36=)
|
rs755465958
|
0.00002
|
NM_001134831.2(AHI1):c.1425C>G (p.Ala475=)
|
rs749317327
|
0.00002
|
NM_001134831.2(AHI1):c.1441-20A>G
|
rs900104028
|
0.00002
|
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
|
rs371835751
|
0.00002
|
NM_001134831.2(AHI1):c.2493-12T>C
|
rs753811172
|
0.00002
|
NM_001134831.2(AHI1):c.2511T>C (p.Phe837=)
|
rs774900587
|
0.00002
|
NM_001134831.2(AHI1):c.2623+12T>C
|
rs763402338
|
0.00002
|
NM_001134831.2(AHI1):c.2743C>T (p.Leu915=)
|
rs201022062
|
0.00002
|
NM_001134831.2(AHI1):c.2754C>T (p.Tyr918=)
|
rs371949853
|
0.00002
|
NM_001134831.2(AHI1):c.3109+8C>T
|
rs760955304
|
0.00002
|
NM_001134831.2(AHI1):c.996G>A (p.Pro332=)
|
rs765587432
|
0.00002
|
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)
|
rs147267631
|
0.00002
|
NM_001173990.3(TMEM216):c.35-19C>T
|
rs934536093
|
0.00002
|
NM_001173990.3(TMEM216):c.375C>T (p.Leu125=)
|
rs753317056
|
0.00002
|
NM_001173990.3(TMEM216):c.54C>A (p.Thr18=)
|
rs1374118965
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001174150.2(ARL13B):c.1211-20G>T
|
rs1296477933
|
0.00002
|
NM_001174150.2(ARL13B):c.501A>C (p.Ala167=)
|
rs774807971
|
0.00002
|
NM_001174150.2(ARL13B):c.981G>A (p.Gln327=)
|
rs749088942
|
0.00002
|
NM_001244189.2(KIAA0586):c.9+14C>T
|
rs1036728165
|
0.00002
|
NM_001329943.3(KIAA0586):c.1130-14C>G
|
rs1457711769
|
0.00002
|
NM_001329943.3(KIAA0586):c.1656+7C>A
|
rs777449141
|
0.00002
|
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=)
|
rs769869324
|
0.00002
|
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=)
|
rs1031513625
|
0.00002
|
NM_001329943.3(KIAA0586):c.3782-18T>C
|
rs1430875009
|
0.00002
|
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=)
|
rs113191202
|
0.00002
|
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=)
|
rs1375416810
|
0.00002
|
NM_001329943.3(KIAA0586):c.4169-8G>C
|
rs766302985
|
0.00002
|
NM_001378615.1(CC2D2A):c.1000T>C (p.Leu334=)
|
rs780534369
|
0.00002
|
NM_001378615.1(CC2D2A):c.1140G>A (p.Leu380=)
|
rs373742688
|
0.00002
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
NM_001378615.1(CC2D2A):c.1701C>T (p.Tyr567=)
|
rs769840882
|
0.00002
|
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
0.00002
|
NM_001378615.1(CC2D2A):c.1809C>T (p.Pro603=)
|
rs778968413
|
0.00002
|
NM_001378615.1(CC2D2A):c.2003+16G>A
|
rs746051826
|
0.00002
|
NM_001378615.1(CC2D2A):c.2088A>G (p.Thr696=)
|
rs760615867
|
0.00002
|
NM_001378615.1(CC2D2A):c.2286G>A (p.Val762=)
|
rs1204225662
|
0.00002
|
NM_001378615.1(CC2D2A):c.2289G>A (p.Glu763=)
|
rs769073033
|
0.00002
|
NM_001378615.1(CC2D2A):c.2310G>C (p.Val770=)
|
rs751676654
|
0.00002
|
NM_001378615.1(CC2D2A):c.2338+16A>G
|
rs777390329
|
0.00002
|
NM_001378615.1(CC2D2A):c.2385G>C (p.Leu795=)
|
rs754272410
|
0.00002
|
NM_001378615.1(CC2D2A):c.2409T>C (p.His803=)
|
rs780868022
|
0.00002
|
NM_001378615.1(CC2D2A):c.2626-12C>T
|
rs571780110
|
0.00002
|
NM_001378615.1(CC2D2A):c.2830-18G>A
|
rs969121617
|
0.00002
|
NM_001378615.1(CC2D2A):c.2864T>C (p.Ile955Thr)
|
rs779465688
|
0.00002
|
NM_001378615.1(CC2D2A):c.2904A>T (p.Val968=)
|
rs1457559560
|
0.00002
|
NM_001378615.1(CC2D2A):c.3014+11T>C
|
rs760477116
|
0.00002
|
NM_001378615.1(CC2D2A):c.3015-11G>A
|
rs757678311
|
0.00002
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
0.00002
|
NM_001378615.1(CC2D2A):c.3132G>A (p.Leu1044=)
|
rs929422473
|
0.00002
|
NM_001378615.1(CC2D2A):c.3183-17T>C
|
rs961448334
|
0.00002
|
NM_001378615.1(CC2D2A):c.3771+11A>C
|
rs955623216
|
0.00002
|
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)
|
rs748886997
|
0.00002
|
NM_001378615.1(CC2D2A):c.4080C>T (p.Leu1360=)
|
rs777093551
|
0.00002
|
NM_001378615.1(CC2D2A):c.648G>A (p.Ala216=)
|
rs1415780433
|
0.00002
|
NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=)
|
rs797045438
|
0.00002
|
NM_001382391.1(CSPP1):c.-10-4A>T
|
rs762753703
|
0.00002
|
NM_001382391.1(CSPP1):c.-96C>T
|
rs751458139
|
0.00002
|
NM_001382391.1(CSPP1):c.1188-16del
|
rs773422166
|
0.00002
|
NM_001382391.1(CSPP1):c.1618+16G>A
|
rs768004861
|
0.00002
|
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=)
|
rs762725926
|
0.00002
|
NM_001382391.1(CSPP1):c.2128+10C>A
|
rs769248386
|
0.00002
|
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=)
|
rs758218835
|
0.00002
|
NM_001382391.1(CSPP1):c.2392-14T>C
|
rs781185001
|
0.00002
|
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=)
|
rs759957152
|
0.00002
|
NM_001382391.1(CSPP1):c.2968+10T>C
|
rs374325149
|
0.00002
|
NM_001382391.1(CSPP1):c.3221-19C>T
|
rs750846829
|
0.00002
|
NM_001382391.1(CSPP1):c.3330+11G>A
|
rs1339355378
|
0.00002
|
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=)
|
rs552763349
|
0.00002
|
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=)
|
rs749332092
|
0.00002
|
NM_001382391.1(CSPP1):c.483+10G>C
|
rs758310938
|
0.00002
|
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=)
|
rs1395679668
|
0.00002
|
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=)
|
rs759906585
|
0.00002
|
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=)
|
rs750069772
|
0.00002
|
NM_002601.4(PDE6D):c.363C>T (p.Ser121=)
|
rs1206823310
|
0.00002
|
NM_003611.3(OFD1):c.1542+13C>T
|
rs1253138718
|
0.00002
|
NM_003611.3(OFD1):c.2169G>A (p.Ser723=)
|
rs984001995
|
0.00002
|
NM_003611.3(OFD1):c.2223A>G (p.Lys741=)
|
rs1355239331
|
0.00002
|
NM_003611.3(OFD1):c.2489-11G>A
|
rs766174993
|
0.00002
|
NM_003611.3(OFD1):c.2541G>A (p.Gly847=)
|
rs780435482
|
0.00002
|
NM_003611.3(OFD1):c.655-13G>C
|
rs753706475
|
0.00002
|
NM_003611.3(OFD1):c.816C>T (p.His272=)
|
rs748363967
|
0.00002
|
NM_014704.4(CEP104):c.2001A>G (p.Gly667=)
|
rs767101698
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1335A>T (p.Ile445=)
|
rs778962353
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1392A>G (p.Leu464=)
|
rs773395675
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)
|
rs966605945
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=)
|
rs774731949
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=)
|
rs778885314
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-13A>G
|
rs1030566201
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-15T>G
|
rs762320051
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-4C>A
|
rs774628905
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2757T>C (p.Ala919=)
|
rs758167588
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=)
|
rs192512050
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2850A>G (p.Ala950=)
|
rs752095514
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2875-15G>T
|
rs749908163
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2877A>G (p.Ala959=)
|
rs753020103
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2958+9T>A
|
rs920679699
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3141A>C (p.Leu1047=)
|
rs1313737236
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3294+13A>G
|
rs756969381
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3777C>T (p.His1259=)
|
rs750716320
|
0.00002
|
NM_015272.5(RPGRIP1L):c.529+16C>T
|
rs765320880
|
0.00002
|
NM_015272.5(RPGRIP1L):c.654A>G (p.Gln218=)
|
rs1404574894
|
0.00002
|
NM_015272.5(RPGRIP1L):c.882+8G>A
|
rs773501615
|
0.00002
|
NM_015631.6(TCTN3):c.1298+16C>T
|
rs777492522
|
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.889-18G>C
|
rs1254012662
|
0.00002
|
NM_015631.6(TCTN3):c.931C>T (p.Leu311=)
|
rs774592467
|
0.00002
|
NM_015681.6(B9D1):c.108C>T (p.Tyr36=)
|
rs548122561
|
0.00002
|
NM_016464.5(TMEM138):c.128+8C>T
|
rs769334895
|
0.00002
|
NM_016464.5(TMEM138):c.192C>T (p.Phe64=)
|
rs199841349
|
0.00002
|
NM_016464.5(TMEM138):c.426C>T (p.Gly142=)
|
rs781330063
|
0.00002
|
NM_017777.4(MKS1):c.1233T>C (p.Arg411=)
|
rs201128765
|
0.00002
|
NM_017777.4(MKS1):c.1273+12T>A
|
rs762439479
|
0.00002
|
NM_017777.4(MKS1):c.1284C>T (p.Thr428=)
|
rs761247194
|
0.00002
|
NM_017777.4(MKS1):c.1353C>T (p.Gly451=)
|
rs764549118
|
0.00002
|
NM_017777.4(MKS1):c.1392A>T (p.Ile464=)
|
rs1160063124
|
0.00002
|
NM_017777.4(MKS1):c.190+12G>A
|
rs1310865080
|
0.00002
|
NM_017777.4(MKS1):c.204A>T (p.Pro68=)
|
rs557752726
|
0.00002
|
NM_017777.4(MKS1):c.210A>G (p.Glu70=)
|
rs778759498
|
0.00002
|
NM_017777.4(MKS1):c.279C>T (p.Tyr93=)
|
rs187870415
|
0.00002
|
NM_017777.4(MKS1):c.644+9C>T
|
rs754404940
|
0.00002
|
NM_017777.4(MKS1):c.732C>G (p.Gly244=)
|
rs753234130
|
0.00002
|
NM_017777.4(MKS1):c.792G>A (p.Thr264=)
|
rs1272905094
|
0.00002
|
NM_017777.4(MKS1):c.858+19C>T
|
rs367750788
|
0.00002
|
NM_017777.4(MKS1):c.993C>T (p.Tyr331=)
|
rs552668070
|
0.00002
|
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
|
rs374440977
|
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.723G>A (p.Glu241=)
|
rs782303641
|
0.00002
|
NM_019892.6(INPP5E):c.1224C>T (p.Gly408=)
|
rs769914491
|
0.00002
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
NM_019892.6(INPP5E):c.168C>T (p.Ala56=)
|
rs1334035407
|
0.00002
|
NM_019892.6(INPP5E):c.363C>T (p.Pro121=)
|
rs762231724
|
0.00002
|
NM_019892.6(INPP5E):c.853T>C (p.Leu285=)
|
rs763694461
|
0.00002
|
NM_024809.5(TCTN2):c.1794C>T (p.Tyr598=)
|
rs193008632
|
0.00002
|
NM_024809.5(TCTN2):c.191-15G>A
|
rs780792228
|
0.00002
|
NM_024809.5(TCTN2):c.210G>T (p.Thr70=)
|
rs1196817536
|
0.00002
|
NM_024809.5(TCTN2):c.510T>C (p.Pro170=)
|
rs769707766
|
0.00002
|
NM_024809.5(TCTN2):c.642T>C (p.Pro214=)
|
rs747382089
|
0.00002
|
NM_024809.5(TCTN2):c.957A>G (p.Lys319=)
|
rs1331215787
|
0.00002
|
NM_024809.5(TCTN2):c.978A>G (p.Leu326=)
|
rs921429450
|
0.00002
|
NM_025114.4(CEP290):c.1035T>C (p.Ala345=)
|
rs778053081
|
0.00002
|
NM_025114.4(CEP290):c.105G>A (p.Val35=)
|
rs371969282
|
0.00002
|
NM_025114.4(CEP290):c.1113A>G (p.Val371=)
|
rs370095967
|
0.00002
|
NM_025114.4(CEP290):c.1522+17G>C
|
rs1269048571
|
0.00002
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.1712-5T>C
|
rs994843668
|
0.00002
|
NM_025114.4(CEP290):c.2211T>C (p.Asn737=)
|
rs763182158
|
0.00002
|
NM_025114.4(CEP290):c.2373A>C (p.Leu791=)
|
rs760126835
|
0.00002
|
NM_025114.4(CEP290):c.2424C>T (p.Tyr808=)
|
rs911134690
|
0.00002
|
NM_025114.4(CEP290):c.3310-9T>C
|
rs752729387
|
0.00002
|
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=)
|
rs976423527
|
0.00002
|
NM_025114.4(CEP290):c.3429G>A (p.Lys1143=)
|
rs769362204
|
0.00002
|
NM_025114.4(CEP290):c.3498T>G (p.Val1166=)
|
rs750099379
|
0.00002
|
NM_025114.4(CEP290):c.4107A>G (p.Lys1369=)
|
rs1380584703
|
0.00002
|
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=)
|
rs368322148
|
0.00002
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
NM_025114.4(CEP290):c.4314T>G (p.Ala1438=)
|
rs773185972
|
0.00002
|
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=)
|
rs778794581
|
0.00002
|
NM_025114.4(CEP290):c.495+17G>T
|
rs181956234
|
0.00002
|
NM_025114.4(CEP290):c.5013-7A>C
|
rs762217156
|
0.00002
|
NM_025114.4(CEP290):c.5112A>G (p.Leu1704=)
|
rs758459529
|
0.00002
|
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)
|
rs754184488
|
0.00002
|
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=)
|
rs747996508
|
0.00002
|
NM_025114.4(CEP290):c.5379T>C (p.Asp1793=)
|
rs1031513373
|
0.00002
|
NM_025114.4(CEP290):c.549C>T (p.Tyr183=)
|
rs781004914
|
0.00002
|
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)
|
rs1481341836
|
0.00002
|
NM_025114.4(CEP290):c.5709+10G>A
|
rs1019366465
|
0.00002
|
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
|
rs752046733
|
0.00002
|
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=)
|
rs772038500
|
0.00002
|
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)
|
rs766265410
|
0.00002
|
NM_025114.4(CEP290):c.6135+7G>A
|
rs772383636
|
0.00002
|
NM_025114.4(CEP290):c.6444T>C (p.Asn2148=)
|
rs368101871
|
0.00002
|
NM_025114.4(CEP290):c.6522+6_6522+7insA
|
rs748258476
|
0.00002
|
NM_025114.4(CEP290):c.6534A>G (p.Glu2178=)
|
rs759956779
|
0.00002
|
NM_025114.4(CEP290):c.6818+9A>G
|
rs748162184
|
0.00002
|
NM_025114.4(CEP290):c.735G>A (p.Glu245=)
|
rs917730125
|
0.00002
|
NM_025114.4(CEP290):c.943-18T>C
|
rs754330511
|
0.00002
|
NM_025114.4(CEP290):c.996T>C (p.His332=)
|
rs746022535
|
0.00002
|
NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=)
|
rs767820112
|
0.00002
|
NM_153704.6(TMEM67):c.1860+19G>A
|
rs373634556
|
0.00002
|
NM_153704.6(TMEM67):c.1961-20C>A
|
rs150209047
|
0.00002
|
NM_153704.6(TMEM67):c.237A>G (p.Val79=)
|
rs772881100
|
0.00002
|
NM_153704.6(TMEM67):c.312+19A>T
|
rs777205068
|
0.00002
|
NM_153704.6(TMEM67):c.979-16C>T
|
rs757127826
|
0.00002
|
NM_001009894.3(RLIG1):c.*997T>A
|
rs2033257006
|
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.1212C>T (p.Ile404=)
|
rs1317494328
|
0.00001
|
NM_001044385.3(TMEM237):c.136+17T>C
|
rs1461794959
|
0.00001
|
NM_001044385.3(TMEM237):c.136+7C>T
|
rs768764111
|
0.00001
|
NM_001044385.3(TMEM237):c.42+15G>A
|
rs1461749315
|
0.00001
|
NM_001044385.3(TMEM237):c.43-6C>T
|
rs886974025
|
0.00001
|
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
|
rs1466574515
|
0.00001
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp)
|
rs750674092
|
0.00001
|
NM_001077418.3(TMEM231):c.139+24C>T
|
rs746632596
|
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.513C>T (p.Tyr171=)
|
rs751631216
|
0.00001
|
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=)
|
rs748111030
|
0.00001
|
NM_001077418.3(TMEM231):c.583-10C>T
|
rs774265542
|
0.00001
|
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=)
|
rs959165450
|
0.00001
|
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
|
rs750043051
|
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.915G>A (p.Thr305=)
|
rs759314500
|
0.00001
|
NM_001082538.3(TCTN1):c.1209C>T (p.Thr403=)
|
rs1195048348
|
0.00001
|
NM_001082538.3(TCTN1):c.1287C>T (p.Thr429=)
|
rs746097128
|
0.00001
|
NM_001082538.3(TCTN1):c.1332-17C>A
|
rs763909645
|
0.00001
|
NM_001082538.3(TCTN1):c.1452C>T (p.Asp484=)
|
rs2067208566
|
0.00001
|
NM_001082538.3(TCTN1):c.1467C>T (p.His489=)
|
rs748187759
|
0.00001
|
NM_001082538.3(TCTN1):c.1636-5T>C
|
rs1250840241
|
0.00001
|
NM_001082538.3(TCTN1):c.1656G>A (p.Arg552=)
|
rs1248295755
|
0.00001
|
NM_001082538.3(TCTN1):c.1659G>A (p.Thr553=)
|
rs777278093
|
0.00001
|
NM_001082538.3(TCTN1):c.1749G>T (p.Leu583=)
|
rs1228988444
|
0.00001
|
NM_001082538.3(TCTN1):c.297C>T (p.Ser99=)
|
rs199654159
|
0.00001
|
NM_001082538.3(TCTN1):c.473-9A>T
|
rs766470328
|
0.00001
|
NM_001082538.3(TCTN1):c.54C>T (p.Ala18=)
|
rs758668268
|
0.00001
|
NM_001082538.3(TCTN1):c.57C>T (p.Ser19=)
|
rs779892252
|
0.00001
|
NM_001082538.3(TCTN1):c.654G>A (p.Ser218=)
|
rs776715588
|
0.00001
|
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=)
|
rs752181429
|
0.00001
|
NM_001082538.3(TCTN1):c.714G>A (p.Ala238=)
|
rs200574241
|
0.00001
|
NM_001082538.3(TCTN1):c.823-4C>G
|
rs754017886
|
0.00001
|
NM_001082538.3(TCTN1):c.846C>G (p.Val282=)
|
rs368536784
|
0.00001
|
NM_001082538.3(TCTN1):c.858T>G (p.Val286=)
|
rs770733945
|
0.00001
|
NM_001082538.3(TCTN1):c.933C>T (p.Leu311=)
|
rs748696458
|
0.00001
|
NM_001082538.3(TCTN1):c.978+10G>A
|
rs557580380
|
0.00001
|
NM_001134831.2(AHI1):c.11-19A>G
|
rs945855139
|
0.00001
|
NM_001134831.2(AHI1):c.1345-18C>A
|
rs1418817424
|
0.00001
|
NM_001134831.2(AHI1):c.136-9C>T
|
rs780414647
|
0.00001
|
NM_001134831.2(AHI1):c.1362C>T (p.Ser454=)
|
rs760276355
|
0.00001
|
NM_001134831.2(AHI1):c.1452C>A (p.Ala484=)
|
rs758676596
|
0.00001
|
NM_001134831.2(AHI1):c.1558A>G (p.Lys520Glu)
|
rs751011125
|
0.00001
|
NM_001134831.2(AHI1):c.1683G>A (p.Val561=)
|
rs757056964
|
0.00001
|
NM_001134831.2(AHI1):c.1701T>C (p.His567=)
|
rs1787360423
|
0.00001
|
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)
|
rs886038629
|
0.00001
|
NM_001134831.2(AHI1):c.1725A>G (p.Glu575=)
|
rs759747091
|
0.00001
|
NM_001134831.2(AHI1):c.186T>C (p.Asp62=)
|
rs1485284078
|
0.00001
|
NM_001134831.2(AHI1):c.190-17A>G
|
rs762843841
|
0.00001
|
NM_001134831.2(AHI1):c.192C>T (p.Pro64=)
|
rs776796882
|
0.00001
|
NM_001134831.2(AHI1):c.1932A>G (p.Gly644=)
|
rs1249895131
|
0.00001
|
NM_001134831.2(AHI1):c.2052A>G (p.Glu684=)
|
rs776429465
|
0.00001
|
NM_001134831.2(AHI1):c.2172A>G (p.Ile724Met)
|
rs547837278
|
0.00001
|
NM_001134831.2(AHI1):c.2266+9G>A
|
rs762842225
|
0.00001
|
NM_001134831.2(AHI1):c.2267-19A>T
|
rs971512231
|
0.00001
|
NM_001134831.2(AHI1):c.2374-9T>A
|
rs1434974004
|
0.00001
|
NM_001134831.2(AHI1):c.2388T>G (p.Thr796=)
|
rs1242947963
|
0.00001
|
NM_001134831.2(AHI1):c.2492+19T>C
|
rs1406778075
|
0.00001
|
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=)
|
rs765434425
|
0.00001
|
NM_001134831.2(AHI1):c.2765-9T>C
|
rs374852342
|
0.00001
|
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)
|
rs538724792
|
0.00001
|
NM_001134831.2(AHI1):c.279C>T (p.Ser93=)
|
rs1205189543
|
0.00001
|
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)
|
rs775305093
|
0.00001
|
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)
|
rs760858792
|
0.00001
|
NM_001134831.2(AHI1):c.2962-13G>A
|
rs927158679
|
0.00001
|
NM_001134831.2(AHI1):c.2989-7A>G
|
rs957458736
|
0.00001
|
NM_001134831.2(AHI1):c.3110-13T>C
|
rs751738538
|
0.00001
|
NM_001134831.2(AHI1):c.3110-15G>A
|
rs755282785
|
0.00001
|
NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=)
|
rs143485622
|
0.00001
|
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
|
rs756637497
|
0.00001
|
NM_001134831.2(AHI1):c.3328+14T>C
|
rs41287052
|
0.00001
|
NM_001134831.2(AHI1):c.3328+17C>G
|
rs756947602
|
0.00001
|
NM_001134831.2(AHI1):c.3330A>G (p.Thr1110=)
|
rs773514922
|
0.00001
|
NM_001134831.2(AHI1):c.3381C>T (p.Ser1127=)
|
rs375647379
|
0.00001
|
NM_001134831.2(AHI1):c.3498A>G (p.Arg1166=)
|
rs746858024
|
0.00001
|
NM_001134831.2(AHI1):c.3564A>G (p.Ala1188=)
|
rs759877397
|
0.00001
|
NM_001134831.2(AHI1):c.420C>T (p.Asp140=)
|
rs1790716581
|
0.00001
|
NM_001134831.2(AHI1):c.456T>C (p.Ser152=)
|
rs1488249011
|
0.00001
|
NM_001134831.2(AHI1):c.636G>A (p.Leu212=)
|
rs1790674290
|
0.00001
|
NM_001134831.2(AHI1):c.645G>A (p.Gln215=)
|
rs1211023912
|
0.00001
|
NM_001134831.2(AHI1):c.873C>T (p.Asp291=)
|
rs1050617914
|
0.00001
|
NM_001134831.2(AHI1):c.960T>C (p.Gly320=)
|
rs756756153
|
0.00001
|
NM_001173990.3(TMEM216):c.114A>G (p.Glu38=)
|
rs1425619800
|
0.00001
|
NM_001173990.3(TMEM216):c.136+14G>C
|
rs1397702234
|
0.00001
|
NM_001173990.3(TMEM216):c.136+17G>A
|
rs1444099043
|
0.00001
|
NM_001173990.3(TMEM216):c.137-11T>C
|
rs746269193
|
0.00001
|
NM_001173990.3(TMEM216):c.137-6T>C
|
rs772304194
|
0.00001
|
NM_001173990.3(TMEM216):c.165C>T (p.Asn55=)
|
rs1858736498
|
0.00001
|
NM_001173990.3(TMEM216):c.192C>T (p.Leu64=)
|
rs1314015576
|
0.00001
|
NM_001173990.3(TMEM216):c.220C>T (p.Leu74=)
|
rs190914241
|
0.00001
|
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)
|
rs528921796
|
0.00001
|
NM_001173990.3(TMEM216):c.34+12G>C
|
rs1336106190
|
0.00001
|
NM_001173990.3(TMEM216):c.34+8T>C
|
rs1359736540
|
0.00001
|
NM_001173990.3(TMEM216):c.408G>T (p.Val136=)
|
rs911000618
|
0.00001
|
NM_001173990.3(TMEM216):c.431+20A>G
|
rs371261722
|
0.00001
|
NM_001173990.3(TMEM216):c.69G>C (p.Leu23=)
|
rs1219199960
|
0.00001
|
NM_001173990.3(TMEM216):c.84G>C (p.Gly28=)
|
rs1237830618
|
0.00001
|
NM_001174150.2(ARL13B):c.1024+10C>G
|
rs568052715
|
0.00001
|
NM_001174150.2(ARL13B):c.1029T>C (p.Asn343=)
|
rs746493443
|
0.00001
|
NM_001174150.2(ARL13B):c.1119G>A (p.Thr373=)
|
rs746618270
|
0.00001
|
NM_001174150.2(ARL13B):c.1142-12C>A
|
rs201429461
|
0.00001
|
NM_001174150.2(ARL13B):c.1210+11A>C
|
rs373224518
|
0.00001
|
NM_001174150.2(ARL13B):c.1210+8A>G
|
rs1397333712
|
0.00001
|
NM_001174150.2(ARL13B):c.380+19A>T
|
rs1016476537
|
0.00001
|
NM_001174150.2(ARL13B):c.486+8T>G
|
rs750515411
|
0.00001
|
NM_001174150.2(ARL13B):c.487-9C>A
|
rs1394028422
|
0.00001
|
NM_001174150.2(ARL13B):c.507G>A (p.Ser169=)
|
rs199847439
|
0.00001
|
NM_001174150.2(ARL13B):c.59+14A>G
|
rs762514257
|
0.00001
|
NM_001174150.2(ARL13B):c.5T>G (p.Phe2Cys)
|
rs555792435
|
0.00001
|
NM_001174150.2(ARL13B):c.689+13A>T
|
rs750183691
|
0.00001
|
NM_001174150.2(ARL13B):c.699T>C (p.Asn233=)
|
rs760352687
|
0.00001
|
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=)
|
rs752196300
|
0.00001
|
NM_001174150.2(ARL13B):c.798+9G>A
|
rs757716671
|
0.00001
|
NM_001174150.2(ARL13B):c.822G>A (p.Glu274=)
|
rs547842227
|
0.00001
|
NM_001174150.2(ARL13B):c.846A>G (p.Lys282=)
|
rs769736361
|
0.00001
|
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=)
|
rs1283583747
|
0.00001
|
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=)
|
rs779005063
|
0.00001
|
NM_001329943.3(KIAA0586):c.1254-7C>T
|
rs371116548
|
0.00001
|
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=)
|
rs755857778
|
0.00001
|
NM_001329943.3(KIAA0586):c.1362+12A>G
|
rs374756414
|
0.00001
|
NM_001329943.3(KIAA0586):c.1363-18G>A
|
rs767847589
|
0.00001
|
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=)
|
rs527483829
|
0.00001
|
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val)
|
rs556274091
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656+11G>A
|
rs2040060841
|
0.00001
|
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=)
|
rs1202169940
|
0.00001
|
NM_001329943.3(KIAA0586):c.200-15C>T
|
rs764593812
|
0.00001
|
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=)
|
rs185266107
|
0.00001
|
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=)
|
rs750714192
|
0.00001
|
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=)
|
rs559438142
|
0.00001
|
NM_001329943.3(KIAA0586):c.2255-11A>G
|
rs752712583
|
0.00001
|
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=)
|
rs200937470
|
0.00001
|
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=)
|
rs751246498
|
0.00001
|
NM_001329943.3(KIAA0586):c.2634+20A>G
|
rs546773198
|
0.00001
|
NM_001329943.3(KIAA0586):c.2635-17G>T
|
rs1478236874
|
0.00001
|
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=)
|
rs776447854
|
0.00001
|
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=)
|
rs527601211
|
0.00001
|
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=)
|
rs746874985
|
0.00001
|
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn)
|
rs3783696
|
0.00001
|
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=)
|
rs779554669
|
0.00001
|
NM_001329943.3(KIAA0586):c.3304+19T>A
|
rs759164063
|
0.00001
|
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=)
|
rs765655962
|
0.00001
|
NM_001329943.3(KIAA0586):c.340+7G>T
|
rs763185199
|
0.00001
|
NM_001329943.3(KIAA0586):c.3527+12C>T
|
rs1369279718
|
0.00001
|
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=)
|
rs764114899
|
0.00001
|
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=)
|
rs780785984
|
0.00001
|
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=)
|
rs773464253
|
0.00001
|
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=)
|
rs1480788246
|
0.00001
|
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=)
|
rs758690971
|
0.00001
|
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=)
|
rs1222178512
|
0.00001
|
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=)
|
rs755315601
|
0.00001
|
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=)
|
rs970331206
|
0.00001
|
NM_001329943.3(KIAA0586):c.3858+8A>G
|
rs370569855
|
0.00001
|
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=)
|
rs1437021057
|
0.00001
|
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=)
|
rs757412652
|
0.00001
|
NM_001329943.3(KIAA0586):c.411-1389C>T
|
rs1490162703
|
0.00001
|
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=)
|
rs372138430
|
0.00001
|
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=)
|
rs2044165528
|
0.00001
|
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=)
|
rs900262881
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3778T>C
|
rs1022389517
|
0.00001
|
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu)
|
rs767347007
|
0.00001
|
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=)
|
rs1019648840
|
0.00001
|
NM_001329943.3(KIAA0586):c.808-14C>G
|
rs765153409
|
0.00001
|
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=)
|
rs541197914
|
0.00001
|
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=)
|
rs1424135868
|
0.00001
|
NM_001378615.1(CC2D2A):c.1018-11T>C
|
rs200340261
|
0.00001
|
NM_001378615.1(CC2D2A):c.1018-12C>T
|
rs375602687
|
0.00001
|
NM_001378615.1(CC2D2A):c.1057C>T (p.Leu353=)
|
rs1365896129
|
0.00001
|
NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)
|
rs886044284
|
0.00001
|
NM_001378615.1(CC2D2A):c.1123G>C (p.Ala375Pro)
|
rs759668652
|
0.00001
|
NM_001378615.1(CC2D2A):c.1150-4G>A
|
rs956757805
|
0.00001
|
NM_001378615.1(CC2D2A):c.1209T>C (p.Asn403=)
|
rs764983506
|
0.00001
|
NM_001378615.1(CC2D2A):c.1299G>A (p.Gln433=)
|
rs1717581475
|
0.00001
|
NM_001378615.1(CC2D2A):c.1506T>C (p.Asp502=)
|
rs765072025
|
0.00001
|
NM_001378615.1(CC2D2A):c.1515G>A (p.Leu505=)
|
rs1188194101
|
0.00001
|
NM_001378615.1(CC2D2A):c.1536T>C (p.Val512=)
|
rs1182295220
|
0.00001
|
NM_001378615.1(CC2D2A):c.1677G>C (p.Leu559=)
|
rs1560170993
|
0.00001
|
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)
|
rs368669579
|
0.00001
|
NM_001378615.1(CC2D2A):c.177C>T (p.Asn59=)
|
rs1001847837
|
0.00001
|
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=)
|
rs763567590
|
0.00001
|
NM_001378615.1(CC2D2A):c.1858A>G (p.Ser620Gly)
|
rs760215716
|
0.00001
|
NM_001378615.1(CC2D2A):c.1863T>G (p.Pro621=)
|
rs1325653391
|
0.00001
|
NM_001378615.1(CC2D2A):c.1927A>C (p.Arg643=)
|
rs1048216556
|
0.00001
|
NM_001378615.1(CC2D2A):c.2004-17A>G
|
rs759192059
|
0.00001
|
NM_001378615.1(CC2D2A):c.2061G>A (p.Leu687=)
|
rs182372139
|
0.00001
|
NM_001378615.1(CC2D2A):c.2103A>G (p.Leu701=)
|
rs1236071005
|
0.00001
|
NM_001378615.1(CC2D2A):c.2184C>T (p.Val728=)
|
rs1718959533
|
0.00001
|
NM_001378615.1(CC2D2A):c.2400A>G (p.Lys800=)
|
rs371834330
|
0.00001
|
NM_001378615.1(CC2D2A):c.2436C>T (p.Asn812=)
|
rs200973968
|
0.00001
|
NM_001378615.1(CC2D2A):c.247+8C>T
|
rs1279815589
|
0.00001
|
NM_001378615.1(CC2D2A):c.248-15G>A
|
rs756298299
|
0.00001
|
NM_001378615.1(CC2D2A):c.2486+18T>C
|
rs1395000705
|
0.00001
|
NM_001378615.1(CC2D2A):c.2486+8A>G
|
rs749186859
|
0.00001
|
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)
|
rs765820512
|
0.00001
|
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=)
|
rs886059158
|
0.00001
|
NM_001378615.1(CC2D2A):c.2580C>T (p.Leu860=)
|
rs955087884
|
0.00001
|
NM_001378615.1(CC2D2A):c.2652C>G (p.Val884=)
|
rs944541785
|
0.00001
|
NM_001378615.1(CC2D2A):c.279A>G (p.Thr93=)
|
rs987594766
|
0.00001
|
NM_001378615.1(CC2D2A):c.2829+20G>A
|
rs751376075
|
0.00001
|
NM_001378615.1(CC2D2A):c.2829+9C>T
|
rs1009676697
|
0.00001
|
NM_001378615.1(CC2D2A):c.2923-9T>C
|
rs753188706
|
0.00001
|
NM_001378615.1(CC2D2A):c.2994A>G (p.Glu998=)
|
rs1044670589
|
0.00001
|
NM_001378615.1(CC2D2A):c.3015-9A>C
|
rs1010285962
|
0.00001
|
NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=)
|
rs886044669
|
0.00001
|
NM_001378615.1(CC2D2A):c.3114T>C (p.Asp1038=)
|
rs781371086
|
0.00001
|
NM_001378615.1(CC2D2A):c.3126G>A (p.Lys1042=)
|
rs767804652
|
0.00001
|
NM_001378615.1(CC2D2A):c.3144G>A (p.Val1048=)
|
rs1185288924
|
0.00001
|
NM_001378615.1(CC2D2A):c.3174G>A (p.Pro1058=)
|
rs769474903
|
0.00001
|
NM_001378615.1(CC2D2A):c.3183-5C>T
|
rs763724257
|
0.00001
|
NM_001378615.1(CC2D2A):c.3197C>T (p.Pro1066Leu)
|
rs556931817
|
0.00001
|
NM_001378615.1(CC2D2A):c.3198G>A (p.Pro1066=)
|
rs970431525
|
0.00001
|
NM_001378615.1(CC2D2A):c.3249G>A (p.Thr1083=)
|
rs200431110
|
0.00001
|
NM_001378615.1(CC2D2A):c.3289-11_3289-10del
|
rs770737692
|
0.00001
|
NM_001378615.1(CC2D2A):c.333G>A (p.Ala111=)
|
rs200273579
|
0.00001
|
NM_001378615.1(CC2D2A):c.3348G>A (p.Thr1116=)
|
rs758507321
|
0.00001
|
NM_001378615.1(CC2D2A):c.337-13T>C
|
rs754124890
|
0.00001
|
NM_001378615.1(CC2D2A):c.3398+7A>G
|
rs772784324
|
0.00001
|
NM_001378615.1(CC2D2A):c.3414T>C (p.Asp1138=)
|
rs780482620
|
0.00001
|
NM_001378615.1(CC2D2A):c.3417T>C (p.Tyr1139=)
|
rs749549856
|
0.00001
|
NM_001378615.1(CC2D2A):c.3595-11T>A
|
rs1476484459
|
0.00001
|
NM_001378615.1(CC2D2A):c.3772-5_3772-4del
|
rs1484994421
|
0.00001
|
NM_001378615.1(CC2D2A):c.39+13_39+15dup
|
rs1714188068
|
0.00001
|
NM_001378615.1(CC2D2A):c.39+7G>A
|
rs1389256356
|
0.00001
|
NM_001378615.1(CC2D2A):c.39+8G>A
|
rs768894327
|
0.00001
|
NM_001378615.1(CC2D2A):c.3996G>A (p.Val1332=)
|
rs751553707
|
0.00001
|
NM_001378615.1(CC2D2A):c.4065+9T>C
|
rs748709735
|
0.00001
|
NM_001378615.1(CC2D2A):c.4066-7T>C
|
rs778478305
|
0.00001
|
NM_001378615.1(CC2D2A):c.4155G>A (p.Leu1385=)
|
rs371862849
|
0.00001
|
NM_001378615.1(CC2D2A):c.4197G>A (p.Val1399=)
|
rs897543991
|
0.00001
|
NM_001378615.1(CC2D2A):c.4200A>G (p.Leu1400=)
|
rs1720998446
|
0.00001
|
NM_001378615.1(CC2D2A):c.42G>A (p.Glu14=)
|
rs1455738671
|
0.00001
|
NM_001378615.1(CC2D2A):c.4315-8T>C
|
rs370982819
|
0.00001
|
NM_001378615.1(CC2D2A):c.4326T>C (p.Asn1442=)
|
rs780298185
|
0.00001
|
NM_001378615.1(CC2D2A):c.438+9T>C
|
rs775606863
|
0.00001
|
NM_001378615.1(CC2D2A):c.439-5T>A
|
rs369244755
|
0.00001
|
NM_001378615.1(CC2D2A):c.4438-4A>G
|
rs1463104948
|
0.00001
|
NM_001378615.1(CC2D2A):c.4467C>T (p.Asp1489=)
|
rs1229562320
|
0.00001
|
NM_001378615.1(CC2D2A):c.4496+12T>G
|
rs754326845
|
0.00001
|
NM_001378615.1(CC2D2A):c.4551T>C (p.Thr1517=)
|
rs756862259
|
0.00001
|
NM_001378615.1(CC2D2A):c.4599G>A (p.Leu1533=)
|
rs556117615
|
0.00001
|
NM_001378615.1(CC2D2A):c.4674+13T>C
|
rs1216887028
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-12T>G
|
rs769761582
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-14T>A
|
rs766203266
|
0.00001
|
NM_001378615.1(CC2D2A):c.4680T>C (p.Ser1560=)
|
rs752706778
|
0.00001
|
NM_001378615.1(CC2D2A):c.4763T>C (p.Val1588Ala)
|
rs572716623
|
0.00001
|
NM_001378615.1(CC2D2A):c.4862A>G (p.Ter1621=)
|
rs761690020
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-6C>T
|
rs757151024
|
0.00001
|
NM_001378615.1(CC2D2A):c.576T>C (p.Tyr192=)
|
rs536646769
|
0.00001
|
NM_001378615.1(CC2D2A):c.707G>A (p.Gly236Glu)
|
rs773437112
|
0.00001
|
NM_001378615.1(CC2D2A):c.717+8A>G
|
rs1716564777
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>A (p.Arg278=)
|
rs372873919
|
0.00001
|
NM_001378615.1(CC2D2A):c.880+7G>A
|
rs1445614932
|
0.00001
|
NM_001378615.1(CC2D2A):c.930A>G (p.Glu310=)
|
rs1256968285
|
0.00001
|
NM_001378615.1(CC2D2A):c.969A>G (p.Ala323=)
|
rs763921042
|
0.00001
|
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)
|
rs113371687
|
0.00001
|
NM_001382391.1(CSPP1):c.-112G>C
|
rs753468929
|
0.00001
|
NM_001382391.1(CSPP1):c.-76C>T
|
rs1261027822
|
0.00001
|
NM_001382391.1(CSPP1):c.-82G>C
|
rs778940690
|
0.00001
|
NM_001382391.1(CSPP1):c.1023-9T>C
|
rs1161675884
|
0.00001
|
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=)
|
rs780635377
|
0.00001
|
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=)
|
rs1215710015
|
0.00001
|
NM_001382391.1(CSPP1):c.1188-10T>C
|
rs1458775172
|
0.00001
|
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=)
|
rs182555422
|
0.00001
|
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=)
|
rs747901737
|
0.00001
|
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=)
|
rs756441690
|
0.00001
|
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=)
|
rs1441641063
|
0.00001
|
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=)
|
rs759106091
|
0.00001
|
NM_001382391.1(CSPP1):c.1827+10C>A
|
rs757078413
|
0.00001
|
NM_001382391.1(CSPP1):c.1828-4C>A
|
rs1064797347
|
0.00001
|
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=)
|
rs1320611050
|
0.00001
|
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=)
|
rs1334965098
|
0.00001
|
NM_001382391.1(CSPP1):c.200-15T>C
|
rs1025519086
|
0.00001
|
NM_001382391.1(CSPP1):c.2128+17T>G
|
rs1465446692
|
0.00001
|
NM_001382391.1(CSPP1):c.2242-19A>T
|
rs771867162
|
0.00001
|
NM_001382391.1(CSPP1):c.2391+7C>G
|
rs1827123471
|
0.00001
|
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=)
|
rs775968442
|
0.00001
|
NM_001382391.1(CSPP1):c.2538+10A>G
|
rs141325681
|
0.00001
|
NM_001382391.1(CSPP1):c.2538+11G>A
|
rs758376225
|
0.00001
|
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=)
|
rs780284845
|
0.00001
|
NM_001382391.1(CSPP1):c.2643+7A>G
|
rs190584438
|
0.00001
|
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=)
|
rs763958350
|
0.00001
|
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=)
|
rs778144204
|
0.00001
|
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=)
|
rs1324539056
|
0.00001
|
NM_001382391.1(CSPP1):c.2829-4A>G
|
rs752142812
|
0.00001
|
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=)
|
rs567550598
|
0.00001
|
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=)
|
rs761971816
|
0.00001
|
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=)
|
rs1810339109
|
0.00001
|
NM_001382391.1(CSPP1):c.303+7A>G
|
rs1810343333
|
0.00001
|
NM_001382391.1(CSPP1):c.3109+20G>A
|
rs373555747
|
0.00001
|
NM_001382391.1(CSPP1):c.3156+16C>A
|
rs773054384
|
0.00001
|
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=)
|
rs769247285
|
0.00001
|
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=)
|
rs1040715506
|
0.00001
|
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=)
|
rs760017432
|
0.00001
|
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=)
|
rs757510042
|
0.00001
|
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=)
|
rs374780184
|
0.00001
|
NM_001382391.1(CSPP1):c.738T>C (p.His246=)
|
rs773951141
|
0.00001
|
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=)
|
rs1446123007
|
0.00001
|
NM_002601.4(PDE6D):c.140-19T>C
|
rs766425103
|
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_003611.3(OFD1):c.13-7C>A
|
rs761622748
|
0.00001
|
NM_003611.3(OFD1):c.1317A>G (p.Leu439=)
|
rs907245341
|
0.00001
|
NM_003611.3(OFD1):c.1497G>A (p.Glu499=)
|
rs912035192
|
0.00001
|
NM_003611.3(OFD1):c.156A>T (p.Val52=)
|
rs779489279
|
0.00001
|
NM_003611.3(OFD1):c.1617T>G (p.Val539=)
|
rs1156292139
|
0.00001
|
NM_003611.3(OFD1):c.1654+13T>A
|
rs756014664
|
0.00001
|
NM_003611.3(OFD1):c.1737G>A (p.Val579=)
|
rs766430580
|
0.00001
|
NM_003611.3(OFD1):c.1785A>G (p.Lys595=)
|
rs1225998238
|
0.00001
|
NM_003611.3(OFD1):c.1848G>A (p.Val616=)
|
rs1200724381
|
0.00001
|
NM_003611.3(OFD1):c.1947C>T (p.Phe649=)
|
rs771499971
|
0.00001
|
NM_003611.3(OFD1):c.198G>A (p.Gly66=)
|
rs776103115
|
0.00001
|
NM_003611.3(OFD1):c.2136C>T (p.Asp712=)
|
rs775705991
|
0.00001
|
NM_003611.3(OFD1):c.2148A>G (p.Ala716=)
|
rs1183295175
|
0.00001
|
NM_003611.3(OFD1):c.2505A>G (p.Pro835=)
|
rs759468353
|
0.00001
|
NM_003611.3(OFD1):c.255T>C (p.Cys85=)
|
rs766158020
|
0.00001
|
NM_003611.3(OFD1):c.2710G>A (p.Val904Ile)
|
rs775451384
|
0.00001
|
NM_003611.3(OFD1):c.2970G>A (p.Thr990=)
|
rs1602946302
|
0.00001
|
NM_003611.3(OFD1):c.345T>G (p.Ile115Met)
|
rs751918276
|
0.00001
|
NM_003611.3(OFD1):c.387A>G (p.Ser129=)
|
rs1471986431
|
0.00001
|
NM_003611.3(OFD1):c.417T>C (p.Phe139=)
|
rs770850686
|
0.00001
|
NM_003611.3(OFD1):c.495G>C (p.Ser165=)
|
rs764608728
|
0.00001
|
NM_003611.3(OFD1):c.518-5A>G
|
rs754852025
|
0.00001
|
NM_003611.3(OFD1):c.579C>T (p.Phe193=)
|
rs780256374
|
0.00001
|
NM_003611.3(OFD1):c.655-9A>G
|
rs758500578
|
0.00001
|
NM_003611.3(OFD1):c.69A>G (p.Leu23=)
|
rs1060503868
|
0.00001
|
NM_003611.3(OFD1):c.705A>G (p.Lys235=)
|
rs773888732
|
0.00001
|
NM_003611.3(OFD1):c.729C>T (p.Thr243=)
|
rs1254615288
|
0.00001
|
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00001
|
NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln)
|
rs143501631
|
0.00001
|
NM_014704.4(CEP104):c.1659+8C>T
|
rs778868893
|
0.00001
|
NM_014704.4(CEP104):c.2160A>G (p.Glu720=)
|
rs754348247
|
0.00001
|
NM_014704.4(CEP104):c.2514G>A (p.Pro838=)
|
rs578262183
|
0.00001
|
NM_014704.4(CEP104):c.729G>A (p.Leu243=)
|
rs897283929
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1029+8C>T
|
rs367844249
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1030-8C>T
|
rs907172288
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1030-9T>C
|
rs779543814
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1092A>G (p.Lys364=)
|
rs766514324
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1095T>C (p.Leu365=)
|
rs201763037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1128G>A (p.Glu376=)
|
rs779375492
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1155G>C (p.Leu385=)
|
rs536376284
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1176C>T (p.Leu392=)
|
rs759115653
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1203A>G (p.Thr401=)
|
rs1158246946
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1311A>G (p.Gln437=)
|
rs1033613104
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1338A>G (p.Lys446=)
|
rs754700219
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1402-13T>G
|
rs940616503
|
0.00001
|
NM_015272.5(RPGRIP1L):c.147A>G (p.Glu49=)
|
rs748560707
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1581+10T>C
|
rs775724713
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1582-7T>G
|
rs887053497
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1700-7C>T
|
rs1211017142
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1755C>A (p.Ile585=)
|
rs767506927
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)
|
rs779429646
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1863A>G (p.Leu621=)
|
rs765009772
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1902C>T (p.Thr634=)
|
rs138097384
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1950C>T (p.Gly650=)
|
rs371258046
|
0.00001
|
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)
|
rs550006406
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2121C>T (p.Ser707=)
|
rs771201854
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2153-6T>C
|
rs371576599
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
|
rs768672275
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2316A>G (p.Gln772=)
|
rs1013531093
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2337C>T (p.Leu779=)
|
rs1966519480
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2364C>T (p.Asn788=)
|
rs746197640
|
0.00001
|
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=)
|
rs368894452
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=)
|
rs794727193
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=)
|
rs770299101
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2454G>A (p.Lys818=)
|
rs747445819
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2535A>G (p.Pro845=)
|
rs1357658306
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2583G>T (p.Leu861=)
|
rs566547156
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2586T>C (p.Ser862=)
|
rs771569223
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2613C>A (p.Thr871=)
|
rs748285506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2640C>T (p.Val880=)
|
rs767271797
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2649T>C (p.Pro883=)
|
rs1417235196
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2684-7T>C
|
rs745815763
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2694G>A (p.Glu898=)
|
rs774787183
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2700A>G (p.Thr900=)
|
rs768724944
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2709A>G (p.Gln903=)
|
rs1412609114
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2817A>G (p.Glu939=)
|
rs1966207157
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=)
|
rs754686404
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=)
|
rs556719572
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2875-17T>G
|
rs755648829
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2875-7G>A
|
rs778196818
|
0.00001
|
NM_015272.5(RPGRIP1L):c.291C>T (p.Gly97=)
|
rs765369037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2931C>T (p.Phe977=)
|
rs761869488
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2946A>G (p.Pro982=)
|
rs1254751869
|
0.00001
|
NM_015272.5(RPGRIP1L):c.297C>T (p.Pro99=)
|
rs771166557
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=)
|
rs1165700039
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3051T>C (p.His1017=)
|
rs762829599
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3099T>C (p.Asn1033=)
|
rs1309372176
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=)
|
rs201711256
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3210G>A (p.Leu1070=)
|
rs375177321
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3220+17A>C
|
rs1204073957
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3330C>T (p.Ser1110=)
|
rs1304423187
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3333G>A (p.Ala1111=)
|
rs1017593402
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3516G>A (p.Leu1172=)
|
rs1388851938
|
0.00001
|
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=)
|
rs1253988919
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3616+9G>T
|
rs934455196
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3617-10T>C
|
rs766297944
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3673C>T (p.Leu1225=)
|
rs1189160289
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3701+12C>A
|
rs931566897
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3714C>T (p.Thr1238=)
|
rs538306358
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)
|
rs1239622461
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3768C>T (p.Gly1256=)
|
rs780364836
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3783C>T (p.Asp1261=)
|
rs1245403227
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3828T>C (p.Asn1276=)
|
rs1432386308
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3831C>T (p.Ile1277=)
|
rs760294595
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3836-15C>A
|
rs777880156
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3836-20T>C
|
rs1399609128
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=)
|
rs201132156
|
0.00001
|
NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=)
|
rs752951179
|
0.00001
|
NM_015272.5(RPGRIP1L):c.393C>T (p.Asn131=)
|
rs759792690
|
0.00001
|
NM_015272.5(RPGRIP1L):c.480G>A (p.Gly160=)
|
rs766853230
|
0.00001
|
NM_015272.5(RPGRIP1L):c.489A>G (p.Lys163=)
|
rs1352245119
|
0.00001
|
NM_015272.5(RPGRIP1L):c.48T>C (p.Asp16=)
|
rs1046124483
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015272.5(RPGRIP1L):c.510A>G (p.Leu170=)
|
rs750991343
|
0.00001
|
NM_015272.5(RPGRIP1L):c.582A>G (p.Thr194=)
|
rs924608253
|
0.00001
|
NM_015272.5(RPGRIP1L):c.632+9T>C
|
rs1970128165
|
0.00001
|
NM_015272.5(RPGRIP1L):c.639C>T (p.Asn213=)
|
rs376808910
|
0.00001
|
NM_015272.5(RPGRIP1L):c.63C>G (p.Leu21=)
|
rs200723710
|
0.00001
|
NM_015272.5(RPGRIP1L):c.642T>G (p.Val214=)
|
rs1970032678
|
0.00001
|
NM_015272.5(RPGRIP1L):c.672G>A (p.Glu224=)
|
rs1253337508
|
0.00001
|
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)
|
rs1266143274
|
0.00001
|
NM_015272.5(RPGRIP1L):c.711G>A (p.Arg237=)
|
rs371710677
|
0.00001
|
NM_015272.5(RPGRIP1L):c.777-4G>A
|
rs374490708
|
0.00001
|
NM_015272.5(RPGRIP1L):c.78G>A (p.Gly26=)
|
rs1276297529
|
0.00001
|
NM_015272.5(RPGRIP1L):c.867T>C (p.Phe289=)
|
rs1178591734
|
0.00001
|
NM_015272.5(RPGRIP1L):c.882+12A>G
|
rs1264347960
|
0.00001
|
NM_015272.5(RPGRIP1L):c.909C>T (p.His303=)
|
rs1313242175
|
0.00001
|
NM_015272.5(RPGRIP1L):c.936A>G (p.Glu312=)
|
rs1454166907
|
0.00001
|
NM_015272.5(RPGRIP1L):c.99A>C (p.Thr33=)
|
rs768545485
|
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.1590+15A>G
|
rs781078051
|
0.00001
|
NM_015631.6(TCTN3):c.222G>A (p.Ser74=)
|
rs913092788
|
0.00001
|
NM_015631.6(TCTN3):c.257-11T>G
|
rs1201207763
|
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.627+18G>A
|
rs763302632
|
0.00001
|
NM_015631.6(TCTN3):c.705T>C (p.Ala235=)
|
rs1251898935
|
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.945C>T (p.Asn315=)
|
rs763364836
|
0.00001
|
NM_015631.6(TCTN3):c.9C>A (p.Thr3=)
|
rs1471002377
|
0.00001
|
NM_015681.6(B9D1):c.315C>T (p.Ala105=)
|
rs776662206
|
0.00001
|
NM_015681.6(B9D1):c.321C>T (p.His107=)
|
rs377672945
|
0.00001
|
NM_015681.6(B9D1):c.342-12C>T
|
rs1365103687
|
0.00001
|
NM_015681.6(B9D1):c.472+16C>G
|
rs375227607
|
0.00001
|
NM_015681.6(B9D1):c.64-4T>C
|
rs749948329
|
0.00001
|
NM_015681.6(B9D1):c.99C>T (p.Cys33=)
|
rs1910884202
|
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.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.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
NM_017777.4(MKS1):c.102A>G (p.Thr34=)
|
rs886053171
|
0.00001
|
NM_017777.4(MKS1):c.1074C>T (p.Cys358=)
|
rs1411471923
|
0.00001
|
NM_017777.4(MKS1):c.1086C>T (p.Ser362=)
|
rs748800331
|
0.00001
|
NM_017777.4(MKS1):c.1095+13A>T
|
rs970409292
|
0.00001
|
NM_017777.4(MKS1):c.1095+19G>A
|
rs200731008
|
0.00001
|
NM_017777.4(MKS1):c.1095+20G>C
|
rs927474862
|
0.00001
|
NM_017777.4(MKS1):c.1096-10C>T
|
rs766137727
|
0.00001
|
NM_017777.4(MKS1):c.114T>C (p.Phe38=)
|
rs375861391
|
0.00001
|
NM_017777.4(MKS1):c.1209G>A (p.Ser403=)
|
rs770493819
|
0.00001
|
NM_017777.4(MKS1):c.1227G>A (p.Arg409=)
|
rs755065589
|
0.00001
|
NM_017777.4(MKS1):c.1274-6G>T
|
rs1247721124
|
0.00001
|
NM_017777.4(MKS1):c.1299G>A (p.Thr433=)
|
rs749503564
|
0.00001
|
NM_017777.4(MKS1):c.1359T>G (p.Ser453=)
|
rs1284188693
|
0.00001
|
NM_017777.4(MKS1):c.1383T>C (p.Tyr461=)
|
rs774475723
|
0.00001
|
NM_017777.4(MKS1):c.1408-10C>G
|
rs1440068430
|
0.00001
|
NM_017777.4(MKS1):c.1408-36G>A
|
rs755493387
|
0.00001
|
NM_017777.4(MKS1):c.1408-5C>T
|
rs1237002420
|
0.00001
|
NM_017777.4(MKS1):c.1416C>T (p.Arg472=)
|
rs1421301211
|
0.00001
|
NM_017777.4(MKS1):c.1479G>A (p.Leu493=)
|
rs376833168
|
0.00001
|
NM_017777.4(MKS1):c.1490+13G>A
|
rs1261119858
|
0.00001
|
NM_017777.4(MKS1):c.1589-12C>T
|
rs377376912
|
0.00001
|
NM_017777.4(MKS1):c.1589-7C>T
|
rs756418206
|
0.00001
|
NM_017777.4(MKS1):c.1629G>A (p.Arg543=)
|
rs781530535
|
0.00001
|
NM_017777.4(MKS1):c.1641G>A (p.Pro547=)
|
rs758334200
|
0.00001
|
NM_017777.4(MKS1):c.1668C>T (p.Thr556=)
|
rs553314050
|
0.00001
|
NM_017777.4(MKS1):c.1674C>T (p.Val558=)
|
rs376925280
|
0.00001
|
NM_017777.4(MKS1):c.180G>A (p.Gln60=)
|
rs1008086525
|
0.00001
|
NM_017777.4(MKS1):c.243G>A (p.Gln81=)
|
rs1488924614
|
0.00001
|
NM_017777.4(MKS1):c.262-10G>T
|
rs772852025
|
0.00001
|
NM_017777.4(MKS1):c.30C>A (p.Thr10=)
|
rs576239597
|
0.00001
|
NM_017777.4(MKS1):c.515+9G>A
|
rs752279060
|
0.00001
|
NM_017777.4(MKS1):c.516-5C>T
|
rs1223795320
|
0.00001
|
NM_017777.4(MKS1):c.516-7C>A
|
rs755511133
|
0.00001
|
NM_017777.4(MKS1):c.51C>T (p.Ser17=)
|
rs1348163172
|
0.00001
|
NM_017777.4(MKS1):c.522C>T (p.Gly174=)
|
rs780657802
|
0.00001
|
NM_017777.4(MKS1):c.628C>T (p.Leu210=)
|
rs1451406283
|
0.00001
|
NM_017777.4(MKS1):c.639T>C (p.Tyr213=)
|
rs746647549
|
0.00001
|
NM_017777.4(MKS1):c.672C>T (p.Val224=)
|
rs200531517
|
0.00001
|
NM_017777.4(MKS1):c.687G>A (p.Lys229=)
|
rs1309433422
|
0.00001
|
NM_017777.4(MKS1):c.80+18G>A
|
rs775676586
|
0.00001
|
NM_017777.4(MKS1):c.870G>A (p.Arg290=)
|
rs769489826
|
0.00001
|
NM_017777.4(MKS1):c.909T>C (p.Phe303=)
|
rs764581050
|
0.00001
|
NM_017777.4(MKS1):c.916-10T>C
|
rs750119538
|
0.00001
|
NM_017777.4(MKS1):c.958+7G>C
|
rs1185269829
|
0.00001
|
NM_017777.4(MKS1):c.959-5C>T
|
rs765242131
|
0.00001
|
NM_017777.4(MKS1):c.959-7C>T
|
rs773337994
|
0.00001
|
NM_017777.4(MKS1):c.959-8T>G
|
rs763444295
|
0.00001
|
NM_017777.4(MKS1):c.978G>A (p.Glu326=)
|
rs1246215697
|
0.00001
|
NM_018718.3(CEP41):c.1053C>T (p.Gly351=)
|
rs782191360
|
0.00001
|
NM_018718.3(CEP41):c.146-18T>C
|
rs202065857
|
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.208-17A>G
|
rs1374383852
|
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.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.741C>T (p.Leu247=)
|
rs781822221
|
0.00001
|
NM_018718.3(CEP41):c.753C>T (p.Ser251=)
|
rs200612684
|
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_019892.6(INPP5E):c.1047G>A (p.Glu349=)
|
rs752019065
|
0.00001
|
NM_019892.6(INPP5E):c.1091C>T (p.Ser364Phe)
|
rs536052523
|
0.00001
|
NM_019892.6(INPP5E):c.1107C>T (p.Gly369=)
|
rs374718674
|
0.00001
|
NM_019892.6(INPP5E):c.1387+15G>A
|
rs1464048559
|
0.00001
|
NM_019892.6(INPP5E):c.1387+17T>C
|
rs931544953
|
0.00001
|
NM_019892.6(INPP5E):c.1392C>T (p.Asp464=)
|
rs756021340
|
0.00001
|
NM_019892.6(INPP5E):c.1452C>T (p.Gly484=)
|
rs371729050
|
0.00001
|
NM_019892.6(INPP5E):c.1489C>T (p.Leu497=)
|
rs768106872
|
0.00001
|
NM_019892.6(INPP5E):c.150T>C (p.Leu50=)
|
rs1588840560
|
0.00001
|
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)
|
rs780119172
|
0.00001
|
NM_019892.6(INPP5E):c.1549+13G>C
|
rs759252360
|
0.00001
|
NM_019892.6(INPP5E):c.1549+17G>A
|
rs776348228
|
0.00001
|
NM_019892.6(INPP5E):c.1551G>T (p.Gly517=)
|
rs201644680
|
0.00001
|
NM_019892.6(INPP5E):c.1593C>T (p.Leu531=)
|
rs1202662483
|
0.00001
|
NM_019892.6(INPP5E):c.1641C>T (p.Ser547=)
|
rs376485593
|
0.00001
|
NM_019892.6(INPP5E):c.1665+17G>A
|
rs373331546
|
0.00001
|
NM_019892.6(INPP5E):c.1666-5C>T
|
rs369685858
|
0.00001
|
NM_019892.6(INPP5E):c.1671C>T (p.Arg557=)
|
rs776792436
|
0.00001
|
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
|
rs760729838
|
0.00001
|
NM_019892.6(INPP5E):c.1746C>T (p.Ser582=)
|
rs888901624
|
0.00001
|
NM_019892.6(INPP5E):c.1802+14C>T
|
rs374679907
|
0.00001
|
NM_019892.6(INPP5E):c.1926C>T (p.Ser642=)
|
rs201735585
|
0.00001
|
NM_019892.6(INPP5E):c.201A>G (p.Ala67=)
|
rs754529136
|
0.00001
|
NM_019892.6(INPP5E):c.258G>T (p.Leu86=)
|
rs760923526
|
0.00001
|
NM_019892.6(INPP5E):c.339G>A (p.Arg113=)
|
rs532376589
|
0.00001
|
NM_019892.6(INPP5E):c.423C>G (p.Pro141=)
|
rs1250573322
|
0.00001
|
NM_019892.6(INPP5E):c.549C>T (p.Pro183=)
|
rs750486950
|
0.00001
|
NM_019892.6(INPP5E):c.560_561insGCTGCCCAT (p.Ser187delinsArgLeuProIle)
|
rs769234632
|
0.00001
|
NM_019892.6(INPP5E):c.687G>C (p.Arg229=)
|
rs958712451
|
0.00001
|
NM_019892.6(INPP5E):c.741C>T (p.Asp247=)
|
rs1416206447
|
0.00001
|
NM_019892.6(INPP5E):c.747C>G (p.Ser249=)
|
rs763877519
|
0.00001
|
NM_019892.6(INPP5E):c.813-7G>C
|
rs774539451
|
0.00001
|
NM_019892.6(INPP5E):c.819C>T (p.Tyr273=)
|
rs1444048193
|
0.00001
|
NM_019892.6(INPP5E):c.84C>T (p.Pro28=)
|
rs1324639364
|
0.00001
|
NM_019892.6(INPP5E):c.861G>A (p.Ala287=)
|
rs764869959
|
0.00001
|
NM_019892.6(INPP5E):c.894C>T (p.Asn298=)
|
rs1315162454
|
0.00001
|
NM_019892.6(INPP5E):c.937-9T>G
|
rs376994223
|
0.00001
|
NM_019892.6(INPP5E):c.957C>T (p.Asp319=)
|
rs1032007993
|
0.00001
|
NM_019892.6(INPP5E):c.997C>T (p.Leu333=)
|
rs151090087
|
0.00001
|
NM_024809.5(TCTN2):c.1099+10G>A
|
rs751385319
|
0.00001
|
NM_024809.5(TCTN2):c.1235-20T>A
|
rs773929370
|
0.00001
|
NM_024809.5(TCTN2):c.1393+19T>C
|
rs1434022811
|
0.00001
|
NM_024809.5(TCTN2):c.1476C>T (p.Val492=)
|
rs755762894
|
0.00001
|
NM_024809.5(TCTN2):c.1497T>C (p.Thr499=)
|
rs915966685
|
0.00001
|
NM_024809.5(TCTN2):c.1505+12A>G
|
rs1179038667
|
0.00001
|
NM_024809.5(TCTN2):c.1612+13C>T
|
rs372353543
|
0.00001
|
NM_024809.5(TCTN2):c.1613-16C>T
|
rs777663928
|
0.00001
|
NM_024809.5(TCTN2):c.1689C>T (p.His563=)
|
rs763961375
|
0.00001
|
NM_024809.5(TCTN2):c.1824C>T (p.Ala608=)
|
rs747771800
|
0.00001
|
NM_024809.5(TCTN2):c.191-16G>T
|
rs756369722
|
0.00001
|
NM_024809.5(TCTN2):c.191-5T>G
|
rs755362026
|
0.00001
|
NM_024809.5(TCTN2):c.207G>A (p.Pro69=)
|
rs775096865
|
0.00001
|
NM_024809.5(TCTN2):c.255G>C (p.Val85=)
|
rs1244229343
|
0.00001
|
NM_024809.5(TCTN2):c.504T>C (p.Leu168=)
|
rs1359077600
|
0.00001
|
NM_024809.5(TCTN2):c.723T>C (p.Leu241=)
|
rs373992170
|
0.00001
|
NM_024809.5(TCTN2):c.82+7A>C
|
rs767155532
|
0.00001
|
NM_024809.5(TCTN2):c.83-20C>T
|
rs1311027569
|
0.00001
|
NM_024809.5(TCTN2):c.83-6G>A
|
rs756232884
|
0.00001
|
NM_025114.4(CEP290):c.1002A>G (p.Leu334=)
|
rs757621266
|
0.00001
|
NM_025114.4(CEP290):c.102+13T>C
|
rs773325354
|
0.00001
|
NM_025114.4(CEP290):c.102+9T>C
|
rs757243626
|
0.00001
|
NM_025114.4(CEP290):c.103-17C>T
|
rs976920583
|
0.00001
|
NM_025114.4(CEP290):c.1057C>T (p.Leu353=)
|
rs1036812157
|
0.00001
|
NM_025114.4(CEP290):c.1066-17T>C
|
rs761615192
|
0.00001
|
NM_025114.4(CEP290):c.1066-4A>G
|
rs2039668462
|
0.00001
|
NM_025114.4(CEP290):c.1107A>G (p.Glu369=)
|
rs1202218217
|
0.00001
|
NM_025114.4(CEP290):c.1190-19T>C
|
rs892306905
|
0.00001
|
NM_025114.4(CEP290):c.1190-8C>T
|
rs764602507
|
0.00001
|
NM_025114.4(CEP290):c.1236G>A (p.Thr412=)
|
rs534187846
|
0.00001
|
NM_025114.4(CEP290):c.1359+7A>T
|
rs2039362896
|
0.00001
|
NM_025114.4(CEP290):c.144G>A (p.Val48=)
|
rs752484237
|
0.00001
|
NM_025114.4(CEP290):c.1455A>G (p.Glu485=)
|
rs755893750
|
0.00001
|
NM_025114.4(CEP290):c.1464A>G (p.Lys488=)
|
rs747644093
|
0.00001
|
NM_025114.4(CEP290):c.1512A>G (p.Arg504=)
|
rs1592639705
|
0.00001
|
NM_025114.4(CEP290):c.1523-11T>G
|
rs747839947
|
0.00001
|
NM_025114.4(CEP290):c.1523-4G>A
|
rs746906765
|
0.00001
|
NM_025114.4(CEP290):c.1523-7A>G
|
rs1413722193
|
0.00001
|
NM_025114.4(CEP290):c.1596A>G (p.Arg532=)
|
rs770310236
|
0.00001
|
NM_025114.4(CEP290):c.1623+13G>A
|
rs746496743
|
0.00001
|
NM_025114.4(CEP290):c.1680T>C (p.Ala560=)
|
rs777669368
|
0.00001
|
NM_025114.4(CEP290):c.168G>A (p.Gln56=)
|
rs1382787422
|
0.00001
|
NM_025114.4(CEP290):c.1711+8C>T
|
rs765158159
|
0.00001
|
NM_025114.4(CEP290):c.1712-6A>G
|
rs1452155200
|
0.00001
|
NM_025114.4(CEP290):c.1712-8A>G
|
rs757895570
|
0.00001
|
NM_025114.4(CEP290):c.1712-9T>C
|
rs1412442444
|
0.00001
|
NM_025114.4(CEP290):c.1725G>A (p.Glu575=)
|
rs1278197433
|
0.00001
|
NM_025114.4(CEP290):c.1779A>G (p.Lys593=)
|
rs374292851
|
0.00001
|
NM_025114.4(CEP290):c.180+9G>A
|
rs2040617810
|
0.00001
|
NM_025114.4(CEP290):c.181-9A>G
|
rs745494615
|
0.00001
|
NM_025114.4(CEP290):c.1824+16T>G
|
rs769650506
|
0.00001
|
NM_025114.4(CEP290):c.1977G>A (p.Lys659=)
|
rs1313927656
|
0.00001
|
NM_025114.4(CEP290):c.1992T>C (p.Asp664=)
|
rs1430141121
|
0.00001
|
NM_025114.4(CEP290):c.2016A>G (p.Thr672=)
|
rs886038690
|
0.00001
|
NM_025114.4(CEP290):c.2052+17A>G
|
rs886038691
|
0.00001
|
NM_025114.4(CEP290):c.2052+20T>C
|
rs142162258
|
0.00001
|
NM_025114.4(CEP290):c.2052+7T>A
|
rs1341344972
|
0.00001
|
NM_025114.4(CEP290):c.2053-5G>T
|
rs764694042
|
0.00001
|
NM_025114.4(CEP290):c.2073A>G (p.Ala691=)
|
rs766690438
|
0.00001
|
NM_025114.4(CEP290):c.2091G>A (p.Ala697=)
|
rs1399023990
|
0.00001
|
NM_025114.4(CEP290):c.2127C>T (p.Thr709=)
|
rs756894456
|
0.00001
|
NM_025114.4(CEP290):c.2205A>G (p.Lys735=)
|
rs1398701243
|
0.00001
|
NM_025114.4(CEP290):c.2218-10T>C
|
rs1433595237
|
0.00001
|
NM_025114.4(CEP290):c.2277T>C (p.Val759=)
|
rs1253940761
|
0.00001
|
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)
|
rs748034744
|
0.00001
|
NM_025114.4(CEP290):c.2367+8A>C
|
rs1373970415
|
0.00001
|
NM_025114.4(CEP290):c.2368-10C>T
|
rs1483385915
|
0.00001
|
NM_025114.4(CEP290):c.237A>G (p.Glu79=)
|
rs1206035309
|
0.00001
|
NM_025114.4(CEP290):c.2394A>G (p.Leu798=)
|
rs542236778
|
0.00001
|
NM_025114.4(CEP290):c.2448T>C (p.Arg816=)
|
rs371851348
|
0.00001
|
NM_025114.4(CEP290):c.2483+3_2483+7dup
|
rs1461768571
|
0.00001
|
NM_025114.4(CEP290):c.2490G>A (p.Lys830=)
|
rs1487806486
|
0.00001
|
NM_025114.4(CEP290):c.2587-6G>A
|
rs2038323989
|
0.00001
|
NM_025114.4(CEP290):c.2587-9T>C
|
rs766982108
|
0.00001
|
NM_025114.4(CEP290):c.2688T>C (p.Leu896=)
|
rs2038314751
|
0.00001
|
NM_025114.4(CEP290):c.2712A>G (p.Val904=)
|
rs1371763035
|
0.00001
|
NM_025114.4(CEP290):c.2721G>A (p.Glu907=)
|
rs1238362600
|
0.00001
|
NM_025114.4(CEP290):c.2778T>C (p.Ala926=)
|
rs767032720
|
0.00001
|
NM_025114.4(CEP290):c.2826C>G (p.Ala942=)
|
rs1456663660
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_025114.4(CEP290):c.2880T>C (p.Ser960=)
|
rs778138631
|
0.00001
|
NM_025114.4(CEP290):c.291A>G (p.Glu97=)
|
rs757402765
|
0.00001
|
NM_025114.4(CEP290):c.2929A>C (p.Arg977=)
|
rs765840717
|
0.00001
|
NM_025114.4(CEP290):c.2940G>A (p.Leu980=)
|
rs750343200
|
0.00001
|
NM_025114.4(CEP290):c.297+16T>C
|
rs547662093
|
0.00001
|
NM_025114.4(CEP290):c.298-11A>G
|
rs748232723
|
0.00001
|
NM_025114.4(CEP290):c.2991+11G>A
|
rs1214417467
|
0.00001
|
NM_025114.4(CEP290):c.3006C>T (p.Ser1002=)
|
rs748493455
|
0.00001
|
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=)
|
rs1227765663
|
0.00001
|
NM_025114.4(CEP290):c.3030A>C (p.Ile1010=)
|
rs1280566129
|
0.00001
|
NM_025114.4(CEP290):c.303T>G (p.Ala101=)
|
rs2040376122
|
0.00001
|
NM_025114.4(CEP290):c.3060A>G (p.Lys1020=)
|
rs948320708
|
0.00001
|
NM_025114.4(CEP290):c.306G>A (p.Gln102=)
|
rs755418283
|
0.00001
|
NM_025114.4(CEP290):c.3108T>C (p.Asn1036=)
|
rs2037242478
|
0.00001
|
NM_025114.4(CEP290):c.3129A>G (p.Ala1043=)
|
rs2037240316
|
0.00001
|
NM_025114.4(CEP290):c.3180T>G (p.Thr1060=)
|
rs552585004
|
0.00001
|
NM_025114.4(CEP290):c.3225T>C (p.His1075=)
|
rs1238044392
|
0.00001
|
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=)
|
rs376027433
|
0.00001
|
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=)
|
rs886042467
|
0.00001
|
NM_025114.4(CEP290):c.3258G>A (p.Ser1086=)
|
rs775973036
|
0.00001
|
NM_025114.4(CEP290):c.3310-10A>G
|
rs1178248633
|
0.00001
|
NM_025114.4(CEP290):c.3310-20T>C
|
rs1446567922
|
0.00001
|
NM_025114.4(CEP290):c.3342G>A (p.Val1114=)
|
rs754811220
|
0.00001
|
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=)
|
rs762723146
|
0.00001
|
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=)
|
rs747972826
|
0.00001
|
NM_025114.4(CEP290):c.3461+16C>T
|
rs1191430138
|
0.00001
|
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=)
|
rs1275942966
|
0.00001
|
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=)
|
rs771857714
|
0.00001
|
NM_025114.4(CEP290):c.3562C>T (p.Leu1188=)
|
rs1241950761
|
0.00001
|
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=)
|
rs376645523
|
0.00001
|
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=)
|
rs761412978
|
0.00001
|
NM_025114.4(CEP290):c.3663G>A (p.Leu1221=)
|
rs1268722686
|
0.00001
|
NM_025114.4(CEP290):c.366A>G (p.Lys122=)
|
rs774352665
|
0.00001
|
NM_025114.4(CEP290):c.3687G>A (p.Gln1229=)
|
rs1345968216
|
0.00001
|
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)
|
rs1159465602
|
0.00001
|
NM_025114.4(CEP290):c.393G>A (p.Leu131=)
|
rs780621500
|
0.00001
|
NM_025114.4(CEP290):c.3960G>A (p.Glu1320=)
|
rs2036812497
|
0.00001
|
NM_025114.4(CEP290):c.4083A>G (p.Leu1361=)
|
rs528988184
|
0.00001
|
NM_025114.4(CEP290):c.4131C>T (p.Asn1377=)
|
rs1217345596
|
0.00001
|
NM_025114.4(CEP290):c.4251A>G (p.Gln1417=)
|
rs775279240
|
0.00001
|
NM_025114.4(CEP290):c.4299A>G (p.Gln1433=)
|
rs1457015763
|
0.00001
|
NM_025114.4(CEP290):c.4303-15A>G
|
rs767235408
|
0.00001
|
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=)
|
rs372184970
|
0.00001
|
NM_025114.4(CEP290):c.4344C>T (p.Pro1448=)
|
rs2036556391
|
0.00001
|
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=)
|
rs552731286
|
0.00001
|
NM_025114.4(CEP290):c.4368T>G (p.Ala1456=)
|
rs772640114
|
0.00001
|
NM_025114.4(CEP290):c.441+14T>G
|
rs765642954
|
0.00001
|
NM_025114.4(CEP290):c.4431A>G (p.Leu1477=)
|
rs1435937461
|
0.00001
|
NM_025114.4(CEP290):c.4438-18A>G
|
rs761675817
|
0.00001
|
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=)
|
rs1220385672
|
0.00001
|
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=)
|
rs748296011
|
0.00001
|
NM_025114.4(CEP290):c.4566A>G (p.Leu1522=)
|
rs763991371
|
0.00001
|
NM_025114.4(CEP290):c.4614T>C (p.Ala1538=)
|
rs747484394
|
0.00001
|
NM_025114.4(CEP290):c.4734G>A (p.Glu1578=)
|
rs1409082857
|
0.00001
|
NM_025114.4(CEP290):c.4812+9C>T
|
rs747569970
|
0.00001
|
NM_025114.4(CEP290):c.4824A>G (p.Lys1608=)
|
rs1273344761
|
0.00001
|
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=)
|
rs1273165449
|
0.00001
|
NM_025114.4(CEP290):c.4887A>T (p.Thr1629=)
|
rs1179886652
|
0.00001
|
NM_025114.4(CEP290):c.4893A>C (p.Ala1631=)
|
rs752956198
|
0.00001
|
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=)
|
rs1330745435
|
0.00001
|
NM_025114.4(CEP290):c.4941A>G (p.Val1647=)
|
rs776334632
|
0.00001
|
NM_025114.4(CEP290):c.496-4G>A
|
rs1263086196
|
0.00001
|
NM_025114.4(CEP290):c.496-6C>T
|
rs776649058
|
0.00001
|
NM_025114.4(CEP290):c.5012+7C>T
|
rs1459836393
|
0.00001
|
NM_025114.4(CEP290):c.5013-17A>G
|
rs2036114425
|
0.00001
|
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=)
|
rs1259897302
|
0.00001
|
NM_025114.4(CEP290):c.5028T>C (p.His1676=)
|
rs775086368
|
0.00001
|
NM_025114.4(CEP290):c.5073G>A (p.Lys1691=)
|
rs768807929
|
0.00001
|
NM_025114.4(CEP290):c.517-17T>C
|
rs760912729
|
0.00001
|
NM_025114.4(CEP290):c.5181A>T (p.Val1727=)
|
rs1002651698
|
0.00001
|
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=)
|
rs754590700
|
0.00001
|
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=)
|
rs747328752
|
0.00001
|
NM_025114.4(CEP290):c.5283A>G (p.Glu1761=)
|
rs749975524
|
0.00001
|
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=)
|
rs1367796637
|
0.00001
|
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)
|
rs1452561924
|
0.00001
|
NM_025114.4(CEP290):c.5442A>G (p.Ser1814=)
|
rs1161234355
|
0.00001
|
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=)
|
rs753424189
|
0.00001
|
NM_025114.4(CEP290):c.5526A>G (p.Glu1842=)
|
rs777528087
|
0.00001
|
NM_025114.4(CEP290):c.5541T>C (p.Asn1847=)
|
rs931780353
|
0.00001
|
NM_025114.4(CEP290):c.5586+9A>G
|
rs746293904
|
0.00001
|
NM_025114.4(CEP290):c.5589C>A (p.Gly1863=)
|
rs1391226067
|
0.00001
|
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=)
|
rs1225010541
|
0.00001
|
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=)
|
rs545964640
|
0.00001
|
NM_025114.4(CEP290):c.5688C>T (p.Asp1896=)
|
rs1166115017
|
0.00001
|
NM_025114.4(CEP290):c.5710-14C>T
|
rs766723760
|
0.00001
|
NM_025114.4(CEP290):c.5710-6T>C
|
rs772896946
|
0.00001
|
NM_025114.4(CEP290):c.5751G>A (p.Lys1917=)
|
rs1384070051
|
0.00001
|
NM_025114.4(CEP290):c.5808C>T (p.Val1936=)
|
rs905571067
|
0.00001
|
NM_025114.4(CEP290):c.583T>C (p.Leu195=)
|
rs1429521689
|
0.00001
|
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=)
|
rs727503852
|
0.00001
|
NM_025114.4(CEP290):c.5919G>A (p.Gln1973=)
|
rs1231554118
|
0.00001
|
NM_025114.4(CEP290):c.597G>A (p.Gly199=)
|
rs757015598
|
0.00001
|
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)
|
rs766355219
|
0.00001
|
NM_025114.4(CEP290):c.6072C>T (p.Tyr2024=)
|
rs779262951
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_025114.4(CEP290):c.6135+8T>A
|
rs759481991
|
0.00001
|
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=)
|
rs1175295227
|
0.00001
|
NM_025114.4(CEP290):c.6207A>G (p.Ser2069=)
|
rs1327169453
|
0.00001
|
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)
|
rs374183249
|
0.00001
|
NM_025114.4(CEP290):c.6270+19A>G
|
rs1181927624
|
0.00001
|
NM_025114.4(CEP290):c.6271-8T>C
|
rs1039146791
|
0.00001
|
NM_025114.4(CEP290):c.6375G>A (p.Lys2125=)
|
rs1408298921
|
0.00001
|
NM_025114.4(CEP290):c.6381C>T (p.Ile2127=)
|
rs761864807
|
0.00001
|
NM_025114.4(CEP290):c.6426A>G (p.Glu2142=)
|
rs1303402400
|
0.00001
|
NM_025114.4(CEP290):c.6525T>C (p.Ala2175=)
|
rs2034343634
|
0.00001
|
NM_025114.4(CEP290):c.6555G>A (p.Gly2185=)
|
rs1282398701
|
0.00001
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
NM_025114.4(CEP290):c.6648A>G (p.Glu2216=)
|
rs1048414150
|
0.00001
|
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=)
|
rs544886883
|
0.00001
|
NM_025114.4(CEP290):c.669+20A>G
|
rs373119842
|
0.00001
|
NM_025114.4(CEP290):c.669+8G>T
|
rs768408897
|
0.00001
|
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)
|
rs755447230
|
0.00001
|
NM_025114.4(CEP290):c.6819-10A>G
|
rs150241790
|
0.00001
|
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=)
|
rs759290213
|
0.00001
|
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=)
|
rs768771609
|
0.00001
|
NM_025114.4(CEP290):c.7020G>A (p.Glu2340=)
|
rs749716804
|
0.00001
|
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=)
|
rs1176691356
|
0.00001
|
NM_025114.4(CEP290):c.7130-16A>G
|
rs1430895394
|
0.00001
|
NM_025114.4(CEP290):c.7131T>C (p.Asp2377=)
|
rs759638203
|
0.00001
|
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)
|
rs779550219
|
0.00001
|
NM_025114.4(CEP290):c.726T>C (p.Asn242=)
|
rs949161264
|
0.00001
|
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=)
|
rs1397480003
|
0.00001
|
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=)
|
rs1555193066
|
0.00001
|
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=)
|
rs1415533078
|
0.00001
|
NM_025114.4(CEP290):c.78T>C (p.Asp26=)
|
rs2040639110
|
0.00001
|
NM_025114.4(CEP290):c.834C>T (p.Asn278=)
|
rs567493515
|
0.00001
|
NM_025114.4(CEP290):c.942+20A>G
|
rs1409061084
|
0.00001
|
NM_025114.4(CEP290):c.978G>A (p.Glu326=)
|
rs935755196
|
0.00001
|
NM_153704.6(TMEM67):c.1014T>C (p.Asp338=)
|
rs766110263
|
0.00001
|
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)
|
rs747752903
|
0.00001
|
NM_153704.6(TMEM67):c.1576-9G>T
|
rs760002634
|
0.00001
|
NM_153704.6(TMEM67):c.1675-13T>A
|
rs144538020
|
0.00001
|
NM_153704.6(TMEM67):c.1734C>T (p.Ile578=)
|
rs774011311
|
0.00001
|
NM_153704.6(TMEM67):c.1773+14T>A
|
rs1370201374
|
0.00001
|
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=)
|
rs774835190
|
0.00001
|
NM_153704.6(TMEM67):c.223+9G>A
|
rs1264088122
|
0.00001
|
NM_153704.6(TMEM67):c.231A>G (p.Ser77=)
|
rs769535902
|
0.00001
|
NM_153704.6(TMEM67):c.2323-12C>A
|
rs1007807232
|
0.00001
|
NM_153704.6(TMEM67):c.2370T>C (p.His790=)
|
rs1475347154
|
0.00001
|
NM_153704.6(TMEM67):c.2440-11T>C
|
rs767482660
|
0.00001
|
NM_153704.6(TMEM67):c.2557-11T>C
|
rs370652713
|
0.00001
|
NM_153704.6(TMEM67):c.2662-4T>C
|
rs374804519
|
0.00001
|
NM_153704.6(TMEM67):c.2765-4A>C
|
rs1242768505
|
0.00001
|
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=)
|
rs777590979
|
0.00001
|
NM_153704.6(TMEM67):c.2907+15T>C
|
rs1218036498
|
0.00001
|
NM_153704.6(TMEM67):c.582G>A (p.Gly194=)
|
rs1230815674
|
0.00001
|
NM_153704.6(TMEM67):c.651+20T>G
|
rs767640779
|
0.00001
|
NM_153704.6(TMEM67):c.652-6T>C
|
rs1282835643
|
0.00001
|
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)
|
rs966581270
|
0.00001
|
NM_153704.6(TMEM67):c.783C>T (p.Asp261=)
|
rs780748968
|
0.00001
|
NM_153704.6(TMEM67):c.79C>T (p.Leu27=)
|
rs763698200
|
0.00001
|
NM_153704.6(TMEM67):c.869+11T>G
|
rs759451327
|
0.00001
|
NM_153704.6(TMEM67):c.882T>C (p.Leu294=)
|
rs200110207
|
0.00001
|
NC_000016.9:g.(?_75573872)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75573891)_(75579393_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579403_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)dup
|
|
|
NM_001009894.3(RLIG1):c.*1006_*1008dup
|
|
|
NM_001009894.3(RLIG1):c.*1008_*1013del
|
rs753383814
|
|
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
|
|
|
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.1089C>T (p.Leu363=)
|
|
|
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
|
|
|
NM_001044385.3(TMEM237):c.1159+15A>C
|
|
|
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
|
|
|
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
|
|
|
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.174T>G (p.Gly58=)
|
rs2105902384
|
|
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.24G>A (p.Arg8=)
|
rs377090903
|
|
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
|
|
|
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.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.396-4A>G
|
|
|
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=)
|
rs1253365223
|
|
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+7G>T
|
|
|
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
|
|
|
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.554-3dup
|
rs778807445
|
|
NM_001044385.3(TMEM237):c.554-5C>T
|
|
|
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
|
rs2105899171
|
|
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.678-6A>G
|
|
|
NM_001044385.3(TMEM237):c.69G>T (p.Val23=)
|
rs2105904439
|
|
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.79+20A>T
|
rs745908076
|
|
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
|
|
|
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.858A>G (p.Ser286=)
|
rs2105898925
|
|
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+8C>G
|
|
|
NM_001044385.3(TMEM237):c.870-4C>G
|
|
|
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)
|
rs2105898446
|
|
NM_001044385.3(TMEM237):c.943+15dup
|
|
|
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
|
|
|
NM_001077418.3(TMEM231):c.-30C>A
|
rs2080810566
|
|
NM_001077418.3(TMEM231):c.139+12C>T
|
rs937269706
|
|
NM_001077418.3(TMEM231):c.139+39G>C
|
rs1448302846
|
|
NM_001077418.3(TMEM231):c.139+48G>T
|
rs1234390023
|
|
NM_001077418.3(TMEM231):c.139+9G>A
|
|
|
NM_001077418.3(TMEM231):c.140-29C>T
|
|
|
NM_001077418.3(TMEM231):c.140-2A>G
|
rs1216670609
|
|
NM_001077418.3(TMEM231):c.140-47C>G
|
rs369232571
|
|
NM_001077418.3(TMEM231):c.140-5C>T
|
|
|
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
|
|
|
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
|
|
|
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
|
|
|
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.219C>T (p.Leu73=)
|
|
|
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
|
|
|
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.255G>T (p.Thr85=)
|
rs2151710642
|
|
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
|
|
|
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
|
|
|
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
|
|
|
NM_001077418.3(TMEM231):c.309+12C>T
|
|
|
NM_001077418.3(TMEM231):c.310-15G>C
|
rs2151703201
|
|
NM_001077418.3(TMEM231):c.310-4C>G
|
rs2080685365
|
|
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
|
|
|
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
|
|
|
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
|
|
|
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)
|
rs775329522
|
|
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.415C>T (p.Leu139=)
|
|
|
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=)
|
rs2080683492
|
|
NM_001077418.3(TMEM231):c.438+13G>A
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.438+13G>T
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.439-11A>G
|
|
|
NM_001077418.3(TMEM231):c.439-20G>T
|
|
|
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
|
|
|
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
|
|
|
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
|
|
|
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=)
|
rs1335128278
|
|
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
|
|
|
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.600G>A (p.Gly200=)
|
|
|
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.675C>A (p.Val225=)
|
|
|
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
|
|
|
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
|
|
|
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr)
|
rs1344067825
|
|
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
|
|
|
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
|
|
|
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val)
|
rs951457866
|
|
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
|
|
|
NM_001077418.3(TMEM231):c.770+20G>A
|
|
|
NM_001077418.3(TMEM231):c.771-17T>G
|
|
|
NM_001077418.3(TMEM231):c.771-4A>G
|
|
|
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=)
|
rs754352443
|
|
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
|
|
|
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
|
|
|
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
|
|
|
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_001082538.3(TCTN1):c.1050A>G (p.Thr350=)
|
|
|
NM_001082538.3(TCTN1):c.1104+14A>G
|
|
|
NM_001082538.3(TCTN1):c.1105-14G>C
|
|
|
NM_001082538.3(TCTN1):c.1119A>T (p.Pro373=)
|
rs2136135794
|
|
NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=)
|
|
|
NM_001082538.3(TCTN1):c.1176C>T (p.Phe392=)
|
|
|
NM_001082538.3(TCTN1):c.1191-17C>G
|
|
|
NM_001082538.3(TCTN1):c.1209C>A (p.Thr403=)
|
|
|
NM_001082538.3(TCTN1):c.1233T>A (p.Thr411=)
|
|
|
NM_001082538.3(TCTN1):c.1327C>T (p.Leu443=)
|
|
|
NM_001082538.3(TCTN1):c.1331+15T>C
|
|
|
NM_001082538.3(TCTN1):c.1332-17_1332-15del
|
rs1346752512
|
|
NM_001082538.3(TCTN1):c.1386G>A (p.Leu462=)
|
|
|
NM_001082538.3(TCTN1):c.1386G>T (p.Leu462=)
|
|
|
NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=)
|
|
|
NM_001082538.3(TCTN1):c.1434G>A (p.Gln478=)
|
rs2136172368
|
|
NM_001082538.3(TCTN1):c.1479G>A (p.Gln493=)
|
|
|
NM_001082538.3(TCTN1):c.1494+10A>G
|
|
|
NM_001082538.3(TCTN1):c.1494+9G>A
|
|
|
NM_001082538.3(TCTN1):c.1495-15C>G
|
|
|
NM_001082538.3(TCTN1):c.1503T>G (p.Val501=)
|
rs2067384815
|
|
NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=)
|
|
|
NM_001082538.3(TCTN1):c.1599T>C (p.Asn533=)
|
rs2136196716
|
|
NM_001082538.3(TCTN1):c.159C>T (p.Pro53=)
|
|
|
NM_001082538.3(TCTN1):c.1623C>T (p.Ser541=)
|
rs2067393633
|
|
NM_001082538.3(TCTN1):c.1626C>T (p.Ser542=)
|
rs2136196962
|
|
NM_001082538.3(TCTN1):c.1636-13C>G
|
rs2136202456
|
|
NM_001082538.3(TCTN1):c.1636-16T>G
|
|
|
NM_001082538.3(TCTN1):c.1636-20C>G
|
|
|
NM_001082538.3(TCTN1):c.1671C>T (p.Ser557=)
|
rs200067409
|
|
NM_001082538.3(TCTN1):c.1731A>G (p.Pro577=)
|
|
|
NM_001082538.3(TCTN1):c.1749G>A (p.Leu583=)
|
|
|
NM_001082538.3(TCTN1):c.1758C>T (p.Asn586=)
|
|
|
NM_001082538.3(TCTN1):c.186C>G (p.Pro62=)
|
|
|
NM_001082538.3(TCTN1):c.18C>G (p.Leu6=)
|
|
|
NM_001082538.3(TCTN1):c.198C>T (p.Pro66=)
|
rs745624307
|
|
NM_001082538.3(TCTN1):c.216G>C (p.Thr72=)
|
|
|
NM_001082538.3(TCTN1):c.220+10A>C
|
|
|
NM_001082538.3(TCTN1):c.220+11T>C
|
|
|
NM_001082538.3(TCTN1):c.220+12dup
|
|
|
NM_001082538.3(TCTN1):c.220+15C>A
|
|
|
NM_001082538.3(TCTN1):c.221-12T>C
|
rs2065291069
|
|
NM_001082538.3(TCTN1):c.221-8_221-7del
|
|
|
NM_001082538.3(TCTN1):c.249C>T (p.Ser83=)
|
rs2135904897
|
|
NM_001082538.3(TCTN1):c.24G>A (p.Pro8=)
|
rs2135826966
|
|
NM_001082538.3(TCTN1):c.341+10C>T
|
rs201488724
|
|
NM_001082538.3(TCTN1):c.341+20A>G
|
|
|
NM_001082538.3(TCTN1):c.341+20A>T
|
|
|
NM_001082538.3(TCTN1):c.342-10T>A
|
|
|
NM_001082538.3(TCTN1):c.342-17del
|
|
|
NM_001082538.3(TCTN1):c.342-19T>C
|
|
|
NM_001082538.3(TCTN1):c.363T>C (p.Ser121=)
|
|
|
NM_001082538.3(TCTN1):c.396A>C (p.Thr132=)
|
|
|
NM_001082538.3(TCTN1):c.39C>G (p.Leu13=)
|
|
|
NM_001082538.3(TCTN1):c.402C>T (p.Asn134=)
|
|
|
NM_001082538.3(TCTN1):c.472+14A>G
|
|
|
NM_001082538.3(TCTN1):c.472+14_472+15del
|
|
|
NM_001082538.3(TCTN1):c.472+15T>C
|
|
|
NM_001082538.3(TCTN1):c.472+18A>G
|
|
|
NM_001082538.3(TCTN1):c.532T>C (p.Leu178=)
|
|
|
NM_001082538.3(TCTN1):c.585C>T (p.Phe195=)
|
rs774402021
|
|
NM_001082538.3(TCTN1):c.624+12C>A
|
|
|
NM_001082538.3(TCTN1):c.625-16G>A
|
rs1193239700
|
|
NM_001082538.3(TCTN1):c.625-16G>C
|
|
|
NM_001082538.3(TCTN1):c.630G>A (p.Gly210=)
|
|
|
NM_001082538.3(TCTN1):c.669T>C (p.Pro223=)
|
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
NM_001082538.3(TCTN1):c.712+19T>G
|
rs1407011800
|
|
NM_001082538.3(TCTN1):c.712+8del
|
|
|
NM_001082538.3(TCTN1):c.823-13T>C
|
|
|
NM_001082538.3(TCTN1):c.823-17G>C
|
|
|
NM_001082538.3(TCTN1):c.843+8TATT[2]
|
rs775925984
|
|
NM_001082538.3(TCTN1):c.844-10C>T
|
rs1565998186
|
|
NM_001082538.3(TCTN1):c.84G>A (p.Pro28=)
|
rs777519512
|
|
NM_001082538.3(TCTN1):c.84G>C (p.Pro28=)
|
|
|
NM_001082538.3(TCTN1):c.915T>C (p.Asp305=)
|
|
|
NM_001082538.3(TCTN1):c.933C>A (p.Leu311=)
|
|
|
NM_001082538.3(TCTN1):c.942T>C (p.Ala314=)
|
|
|
NM_001082538.3(TCTN1):c.978+9C>T
|
rs1193894596
|
|
NM_001082538.3(TCTN1):c.979-8G>A
|
rs1182390950
|
|
NM_001082538.3(TCTN1):c.993C>G (p.Leu331=)
|
|
|
NM_001134831.2(AHI1):c.10+10C>T
|
|
|
NM_001134831.2(AHI1):c.10+14G>A
|
|
|
NM_001134831.2(AHI1):c.1011T>C (p.Cys337=)
|
|
|
NM_001134831.2(AHI1):c.1012T>C (p.Leu338=)
|
|
|
NM_001134831.2(AHI1):c.1023T>C (p.Asp341=)
|
rs993439588
|
|
NM_001134831.2(AHI1):c.1026C>T (p.Asp342=)
|
|
|
NM_001134831.2(AHI1):c.1029T>C (p.Leu343=)
|
|
|
NM_001134831.2(AHI1):c.1051C>A (p.Arg351=)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.1056T>C (p.Thr352=)
|
|
|
NM_001134831.2(AHI1):c.1065T>C (p.Leu355=)
|
|
|
NM_001134831.2(AHI1):c.11-12T>C
|
rs2128134488
|
|
NM_001134831.2(AHI1):c.11-13G>A
|
|
|
NM_001134831.2(AHI1):c.11-5T>C
|
|
|
NM_001134831.2(AHI1):c.11-6T>C
|
|
|
NM_001134831.2(AHI1):c.11-9C>A
|
rs779186190
|
|
NM_001134831.2(AHI1):c.11-9C>G
|
rs779186190
|
|
NM_001134831.2(AHI1):c.11-9C>T
|
|
|
NM_001134831.2(AHI1):c.1125T>A (p.Thr375=)
|
|
|
NM_001134831.2(AHI1):c.1151+16T>C
|
|
|
NM_001134831.2(AHI1):c.1151+19A>G
|
|
|
NM_001134831.2(AHI1):c.1151+20_1151+21del
|
|
|
NM_001134831.2(AHI1):c.1152-18G>T
|
|
|
NM_001134831.2(AHI1):c.1152-19A>G
|
|
|
NM_001134831.2(AHI1):c.1152-5T>C
|
|
|
NM_001134831.2(AHI1):c.1156C>A (p.Arg386=)
|
|
|
NM_001134831.2(AHI1):c.1167A>G (p.Ser389=)
|
|
|
NM_001134831.2(AHI1):c.1179A>G (p.Glu393=)
|
|
|
NM_001134831.2(AHI1):c.1185G>A (p.Glu395=)
|
|
|
NM_001134831.2(AHI1):c.1215C>G (p.Thr405=)
|
|
|
NM_001134831.2(AHI1):c.1236G>A (p.Gln412=)
|
|
|
NM_001134831.2(AHI1):c.1254A>G (p.Pro418=)
|
|
|
NM_001134831.2(AHI1):c.1293C>G (p.Pro431=)
|
|
|
NM_001134831.2(AHI1):c.1317G>A (p.Glu439=)
|
|
|
NM_001134831.2(AHI1):c.1326A>G (p.Lys442=)
|
rs2128077134
|
|
NM_001134831.2(AHI1):c.1329C>A (p.Val443=)
|
|
|
NM_001134831.2(AHI1):c.1338C>T (p.Phe446=)
|
|
|
NM_001134831.2(AHI1):c.1344+10G>A
|
|
|
NM_001134831.2(AHI1):c.1344+10G>C
|
|
|
NM_001134831.2(AHI1):c.1344+15G>C
|
|
|
NM_001134831.2(AHI1):c.1344+17_1344+54del
|
|
|
NM_001134831.2(AHI1):c.1344+8T>A
|
|
|
NM_001134831.2(AHI1):c.1345-11T>A
|
|
|
NM_001134831.2(AHI1):c.135+10T>C
|
|
|
NM_001134831.2(AHI1):c.135+12A>C
|
|
|
NM_001134831.2(AHI1):c.135+15A>G
|
|
|
NM_001134831.2(AHI1):c.135+16T>C
|
|
|
NM_001134831.2(AHI1):c.136-12C>G
|
|
|
NM_001134831.2(AHI1):c.136-16A>G
|
|
|
NM_001134831.2(AHI1):c.136-17_136-15del
|
|
|
NM_001134831.2(AHI1):c.136-19del
|
|
|
NM_001134831.2(AHI1):c.136-20_136-15del
|
|
|
NM_001134831.2(AHI1):c.136-4T>G
|
|
|
NM_001134831.2(AHI1):c.1365G>A (p.Val455=)
|
|
|
NM_001134831.2(AHI1):c.1398C>T (p.Asn466=)
|
|
|
NM_001134831.2(AHI1):c.1414C>A (p.Arg472=)
|
|
|
NM_001134831.2(AHI1):c.1425C>T (p.Ala475=)
|
|
|
NM_001134831.2(AHI1):c.1440+16A>G
|
|
|
NM_001134831.2(AHI1):c.1440+17T>C
|
|
|
NM_001134831.2(AHI1):c.1441-15A>C
|
|
|
NM_001134831.2(AHI1):c.1441-18A>G
|
|
|
NM_001134831.2(AHI1):c.1441-7T>C
|
rs1787586295
|
|
NM_001134831.2(AHI1):c.1443T>C (p.Leu481=)
|
|
|
NM_001134831.2(AHI1):c.1455T>C (p.Asn485=)
|
rs765844068
|
|
NM_001134831.2(AHI1):c.1491G>A (p.Gln497=)
|
|
|
NM_001134831.2(AHI1):c.1500C>T (p.Tyr500=)
|
|
|
NM_001134831.2(AHI1):c.1503A>G (p.Pro501=)
|
|
|
NM_001134831.2(AHI1):c.1512G>A (p.Lys504=)
|
|
|
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1518A>G (p.Arg506=)
|
rs1460484266
|
|
NM_001134831.2(AHI1):c.1524A>G (p.Pro508=)
|
rs368162800
|
|
NM_001134831.2(AHI1):c.1524A>T (p.Pro508=)
|
|
|
NM_001134831.2(AHI1):c.1527A>G (p.Leu509=)
|
rs2128058989
|
|
NM_001134831.2(AHI1):c.156T>C (p.Asn52=)
|
|
|
NM_001134831.2(AHI1):c.1581A>G (p.Pro527=)
|
|
|
NM_001134831.2(AHI1):c.1608A>G (p.Gly536=)
|
|
|
NM_001134831.2(AHI1):c.1641C>T (p.Tyr547=)
|
|
|
NM_001134831.2(AHI1):c.1644C>G (p.Arg548=)
|
rs2128056589
|
|
NM_001134831.2(AHI1):c.165T>C (p.Tyr55=)
|
|
|
NM_001134831.2(AHI1):c.1674T>G (p.Gly558=)
|
rs750069868
|
|
NM_001134831.2(AHI1):c.1686T>C (p.His562=)
|
|
|
NM_001134831.2(AHI1):c.1710C>T (p.Ser570=)
|
|
|
NM_001134831.2(AHI1):c.1755A>C (p.Ile585=)
|
|
|
NM_001134831.2(AHI1):c.1764A>G (p.Lys588=)
|
|
|
NM_001134831.2(AHI1):c.1779+10T>C
|
|
|
NM_001134831.2(AHI1):c.1779+11T>C
|
|
|
NM_001134831.2(AHI1):c.1779+12G>A
|
rs2128056072
|
|
NM_001134831.2(AHI1):c.1779+16A>G
|
|
|
NM_001134831.2(AHI1):c.1779+20_1779+32del
|
|
|
NM_001134831.2(AHI1):c.177T>C (p.Thr59=)
|
|
|
NM_001134831.2(AHI1):c.1780-11A>G
|
|
|
NM_001134831.2(AHI1):c.1780-13G>A
|
|
|
NM_001134831.2(AHI1):c.1780-8T>C
|
|
|
NM_001134831.2(AHI1):c.1780-9G>A
|
|
|
NM_001134831.2(AHI1):c.1818T>C (p.Asn606=)
|
|
|
NM_001134831.2(AHI1):c.1824A>C (p.Gly608=)
|
|
|
NM_001134831.2(AHI1):c.1860T>C (p.Asn620=)
|
|
|
NM_001134831.2(AHI1):c.1875A>G (p.Ala625=)
|
|
|
NM_001134831.2(AHI1):c.1878A>G (p.Ala626=)
|
|
|
NM_001134831.2(AHI1):c.189+11C>T
|
|
|
NM_001134831.2(AHI1):c.189+13A>G
|
|
|
NM_001134831.2(AHI1):c.189+15C>T
|
|
|
NM_001134831.2(AHI1):c.189+16A>G
|
|
|
NM_001134831.2(AHI1):c.189+17C>G
|
|
|
NM_001134831.2(AHI1):c.189+18T>C
|
|
|
NM_001134831.2(AHI1):c.189+20A>C
|
|
|
NM_001134831.2(AHI1):c.189+7A>G
|
|
|
NM_001134831.2(AHI1):c.189+8C>T
|
|
|
NM_001134831.2(AHI1):c.1893G>T (p.Arg631=)
|
|
|
NM_001134831.2(AHI1):c.1899A>T (p.Gly633=)
|
|
|
NM_001134831.2(AHI1):c.190-12T>G
|
|
|
NM_001134831.2(AHI1):c.190-18_190-16del
|
|
|
NM_001134831.2(AHI1):c.190-19T>A
|
|
|
NM_001134831.2(AHI1):c.190-5C>T
|
|
|
NM_001134831.2(AHI1):c.190-6T>G
|
|
|
NM_001134831.2(AHI1):c.1912+10A>C
|
rs750402394
|
|
NM_001134831.2(AHI1):c.1912+17C>G
|
|
|
NM_001134831.2(AHI1):c.1912+18C>A
|
|
|
NM_001134831.2(AHI1):c.1912+19T>A
|
|
|
NM_001134831.2(AHI1):c.1912+19dup
|
rs756965683
|
|
NM_001134831.2(AHI1):c.1912+20G>A
|
|
|
NM_001134831.2(AHI1):c.1912+7A>G
|
|
|
NM_001134831.2(AHI1):c.1912+8A>T
|
rs2128046089
|
|
NM_001134831.2(AHI1):c.1913-14A>C
|
|
|
NM_001134831.2(AHI1):c.1913-18_1913-17insTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA
|
|
|
NM_001134831.2(AHI1):c.1913-19_1913-18insTGATAGCAGTGATGATTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA
|
rs2128038204
|
|
NM_001134831.2(AHI1):c.1913-20_1913-19insGATTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA
|
|
|
NM_001134831.2(AHI1):c.1913-4T>A
|
|
|
NM_001134831.2(AHI1):c.1913-5A>G
|
|
|
NM_001134831.2(AHI1):c.1913-8T>C
|
|
|
NM_001134831.2(AHI1):c.1914A>G (p.Leu638=)
|
|
|
NM_001134831.2(AHI1):c.1950G>A (p.Leu650=)
|
|
|
NM_001134831.2(AHI1):c.1959C>T (p.His653=)
|
|
|
NM_001134831.2(AHI1):c.1968C>T (p.Ile656=)
|
|
|
NM_001134831.2(AHI1):c.1989A>G (p.Ser663=)
|
|
|
NM_001134831.2(AHI1):c.2001C>T (p.His667=)
|
|
|
NM_001134831.2(AHI1):c.2007C>T (p.Ile669=)
|
|
|
NM_001134831.2(AHI1):c.2010T>C (p.Leu670=)
|
|
|
NM_001134831.2(AHI1):c.2016A>G (p.Ser672=)
|
|
|
NM_001134831.2(AHI1):c.2036+13G>C
|
|
|
NM_001134831.2(AHI1):c.2036+15G>A
|
|
|
NM_001134831.2(AHI1):c.2036+20A>G
|
rs757547033
|
|
NM_001134831.2(AHI1):c.2036+20A>T
|
rs757547033
|
|
NM_001134831.2(AHI1):c.2036+9C>A
|
|
|
NM_001134831.2(AHI1):c.2037-10C>A
|
rs1483842780
|
|
NM_001134831.2(AHI1):c.2037-10C>T
|
|
|
NM_001134831.2(AHI1):c.2037-15C>G
|
|
|
NM_001134831.2(AHI1):c.2067T>C (p.Asn689=)
|
|
|
NM_001134831.2(AHI1):c.2115C>T (p.Phe705=)
|
|
|
NM_001134831.2(AHI1):c.2121A>G (p.Pro707=)
|
|
|
NM_001134831.2(AHI1):c.2136A>G (p.Leu712=)
|
|
|
NM_001134831.2(AHI1):c.2142T>C (p.Val714=)
|
|
|
NM_001134831.2(AHI1):c.2145A>G (p.Thr715=)
|
|
|
NM_001134831.2(AHI1):c.2145A>T (p.Thr715=)
|
rs767255013
|
|
NM_001134831.2(AHI1):c.2148A>G (p.Gly716=)
|
rs2128022727
|
|
NM_001134831.2(AHI1):c.2169G>A (p.Arg723=)
|
|
|
NM_001134831.2(AHI1):c.2169G>T (p.Arg723=)
|
rs2128022641
|
|
NM_001134831.2(AHI1):c.216C>T (p.Pro72=)
|
|
|
NM_001134831.2(AHI1):c.2178A>G (p.Lys726=)
|
|
|
NM_001134831.2(AHI1):c.2181T>A (p.Val727=)
|
|
|
NM_001134831.2(AHI1):c.2206T>C (p.Leu736=)
|
|
|
NM_001134831.2(AHI1):c.2226T>G (p.Val742=)
|
|
|
NM_001134831.2(AHI1):c.222T>C (p.Ile74=)
|
rs375875794
|
|
NM_001134831.2(AHI1):c.2247A>C (p.Ser749=)
|
|
|
NM_001134831.2(AHI1):c.2253T>C (p.Cys751=)
|
|
|
NM_001134831.2(AHI1):c.225A>G (p.Lys75=)
|
|
|
NM_001134831.2(AHI1):c.2262T>C (p.Thr754=)
|
|
|
NM_001134831.2(AHI1):c.2266+10A>T
|
|
|
NM_001134831.2(AHI1):c.2266+14T>A
|
|
|
NM_001134831.2(AHI1):c.2266+15A>G
|
|
|
NM_001134831.2(AHI1):c.2266+7C>T
|
|
|
NM_001134831.2(AHI1):c.2266+9_2266+18del
|
|
|
NM_001134831.2(AHI1):c.2267-11T>G
|
|
|
NM_001134831.2(AHI1):c.2267-12T>G
|
|
|
NM_001134831.2(AHI1):c.2267-14A>C
|
rs1342603314
|
|
NM_001134831.2(AHI1):c.2267-16T>G
|
|
|
NM_001134831.2(AHI1):c.2267-19dup
|
|
|
NM_001134831.2(AHI1):c.2283A>G (p.Ser761=)
|
|
|
NM_001134831.2(AHI1):c.2295A>G (p.Thr765=)
|
|
|
NM_001134831.2(AHI1):c.2298G>A (p.Gly766=)
|
|
|
NM_001134831.2(AHI1):c.2319C>T (p.Thr773=)
|
|
|
NM_001134831.2(AHI1):c.2322T>C (p.Tyr774=)
|
|
|
NM_001134831.2(AHI1):c.2340G>A (p.Leu780=)
|
|
|
NM_001134831.2(AHI1):c.234A>C (p.Thr78=)
|
|
|
NM_001134831.2(AHI1):c.2355C>T (p.His785=)
|
|
|
NM_001134831.2(AHI1):c.2373+10C>A
|
rs2128016462
|
|
NM_001134831.2(AHI1):c.2373+11A>G
|
|
|
NM_001134831.2(AHI1):c.2373+12T>C
|
|
|
NM_001134831.2(AHI1):c.2373+13A>G
|
|
|
NM_001134831.2(AHI1):c.2373+14T>C
|
|
|
NM_001134831.2(AHI1):c.2373+19T>C
|
|
|
NM_001134831.2(AHI1):c.2374-12dup
|
|
|
NM_001134831.2(AHI1):c.2374-20A>G
|
|
|
NM_001134831.2(AHI1):c.2374-20A>T
|
|
|
NM_001134831.2(AHI1):c.2374-28GTA[2]
|
|
|
NM_001134831.2(AHI1):c.2374-7del
|
|
|
NM_001134831.2(AHI1):c.2391G>A (p.Glu797=)
|
|
|
NM_001134831.2(AHI1):c.2397G>A (p.Lys799=)
|
rs747639578
|
|
NM_001134831.2(AHI1):c.2421G>A (p.Glu807=)
|
rs864622356
|
|
NM_001134831.2(AHI1):c.2430C>G (p.Pro810=)
|
rs765954155
|
|
NM_001134831.2(AHI1):c.2466T>C (p.Ser822=)
|
|
|
NM_001134831.2(AHI1):c.2492+15G>C
|
|
|
NM_001134831.2(AHI1):c.2492+20G>A
|
|
|
NM_001134831.2(AHI1):c.2492+20G>C
|
|
|
NM_001134831.2(AHI1):c.2493-15C>A
|
|
|
NM_001134831.2(AHI1):c.2493-5T>C
|
|
|
NM_001134831.2(AHI1):c.2502A>G (p.Ala834=)
|
|
|
NM_001134831.2(AHI1):c.2514A>G (p.Val838=)
|
|
|
NM_001134831.2(AHI1):c.2544T>C (p.His848=)
|
|
|
NM_001134831.2(AHI1):c.2547T>C (p.Ser849=)
|
|
|
NM_001134831.2(AHI1):c.2559A>G (p.Pro853=)
|
|
|
NM_001134831.2(AHI1):c.255T>C (p.Ala85=)
|
|
|
NM_001134831.2(AHI1):c.2565G>A (p.Gly855=)
|
|
|
NM_001134831.2(AHI1):c.2565G>T (p.Gly855=)
|
|
|
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
|
rs199736888
|
|
NM_001134831.2(AHI1):c.2572C>T (p.Leu858=)
|
|
|
NM_001134831.2(AHI1):c.2574G>A (p.Leu858=)
|
|
|
NM_001134831.2(AHI1):c.2580T>C (p.Ala860=)
|
|
|
NM_001134831.2(AHI1):c.2598A>C (p.Ile866=)
|
rs1448795637
|
|
NM_001134831.2(AHI1):c.2604T>C (p.Tyr868=)
|
|
|
NM_001134831.2(AHI1):c.2616A>G (p.Pro872=)
|
|
|
NM_001134831.2(AHI1):c.261T>C (p.Thr87=)
|
|
|
NM_001134831.2(AHI1):c.2623+10dup
|
rs760987188
|
|
NM_001134831.2(AHI1):c.2623+11A>G
|
|
|
NM_001134831.2(AHI1):c.2623+16A>G
|
|
|
NM_001134831.2(AHI1):c.2623+17C>T
|
|
|
NM_001134831.2(AHI1):c.2623+18T>A
|
rs2128009104
|
|
NM_001134831.2(AHI1):c.2624-13T>C
|
|
|
NM_001134831.2(AHI1):c.2624-14C>A
|
|
|
NM_001134831.2(AHI1):c.2624-16C>T
|
|
|
NM_001134831.2(AHI1):c.2624-16CT[2]
|
|
|
NM_001134831.2(AHI1):c.2624-17T>A
|
rs1784050213
|
|
NM_001134831.2(AHI1):c.2624-18A>G
|
|
|
NM_001134831.2(AHI1):c.2624-4T>C
|
|
|
NM_001134831.2(AHI1):c.2624-8_2624-7del
|
|
|
NM_001134831.2(AHI1):c.2637C>A (p.Ala879=)
|
rs1308009765
|
|
NM_001134831.2(AHI1):c.2637C>T (p.Ala879=)
|
|
|
NM_001134831.2(AHI1):c.2649C>T (p.Asp883=)
|
|
|
NM_001134831.2(AHI1):c.2664A>G (p.Ser888=)
|
rs1296818217
|
|
NM_001134831.2(AHI1):c.2671C>A (p.Arg891=)
|
|
|
NM_001134831.2(AHI1):c.2706T>G (p.Val902=)
|
|
|
NM_001134831.2(AHI1):c.2718A>C (p.Ala906=)
|
|
|
NM_001134831.2(AHI1):c.2745G>T (p.Leu915=)
|
|
|
NM_001134831.2(AHI1):c.2764+11del
|
|
|
NM_001134831.2(AHI1):c.2764+13_2764+24del
|
|
|
NM_001134831.2(AHI1):c.2764+16G>A
|
|
|
NM_001134831.2(AHI1):c.2764+16G>T
|
|
|
NM_001134831.2(AHI1):c.2764+17A>C
|
|
|
NM_001134831.2(AHI1):c.2764+18T>A
|
rs2128005584
|
|
NM_001134831.2(AHI1):c.2764+20A>G
|
|
|
NM_001134831.2(AHI1):c.2764+8_2764+10del
|
rs768295818
|
|
NM_001134831.2(AHI1):c.2765-10A>G
|
|
|
NM_001134831.2(AHI1):c.2765-13T>C
|
|
|
NM_001134831.2(AHI1):c.2765-17T>G
|
|
|
NM_001134831.2(AHI1):c.2765-18A>G
|
|
|
NM_001134831.2(AHI1):c.2765-19T>C
|
|
|
NM_001134831.2(AHI1):c.2765-20T>G
|
|
|
NM_001134831.2(AHI1):c.2765-7T>G
|
rs558638679
|
|
NM_001134831.2(AHI1):c.2765-8T>G
|
|
|
NM_001134831.2(AHI1):c.2771A>G (p.Gln924Arg)
|
|
|
NM_001134831.2(AHI1):c.2775G>A (p.Gln925=)
|
|
|
NM_001134831.2(AHI1):c.2781T>C (p.Ala927=)
|
|
|
NM_001134831.2(AHI1):c.2802T>C (p.Asn934=)
|
|
|
NM_001134831.2(AHI1):c.2805A>C (p.Gly935=)
|
|
|
NM_001134831.2(AHI1):c.2805A>G (p.Gly935=)
|
|
|
NM_001134831.2(AHI1):c.283A>C (p.Arg95=)
|
|
|
NM_001134831.2(AHI1):c.2844C>G (p.Ala948=)
|
|
|
NM_001134831.2(AHI1):c.2844C>T (p.Ala948=)
|
|
|
NM_001134831.2(AHI1):c.2847A>G (p.Leu949=)
|
|
|
NM_001134831.2(AHI1):c.2859A>G (p.Pro953=)
|
|
|
NM_001134831.2(AHI1):c.285A>G (p.Arg95=)
|
rs2128098757
|
|
NM_001134831.2(AHI1):c.2862A>G (p.Lys954=)
|
rs2127974180
|
|
NM_001134831.2(AHI1):c.2865A>G (p.Leu955=)
|
|
|
NM_001134831.2(AHI1):c.288C>A (p.Val96=)
|
rs2128098750
|
|
NM_001134831.2(AHI1):c.2895A>G (p.Glu965=)
|
|
|
NM_001134831.2(AHI1):c.2901C>T (p.Val967=)
|
|
|
NM_001134831.2(AHI1):c.2921C>T (p.Thr974Met)
|
rs373303895
|
|
NM_001134831.2(AHI1):c.2934A>G (p.Leu978=)
|
|
|
NM_001134831.2(AHI1):c.2961+14A>T
|
rs200731111
|
|
NM_001134831.2(AHI1):c.2961+16G>A
|
rs199671265
|
|
NM_001134831.2(AHI1):c.2961+17C>A
|
rs201291897
|
|
NM_001134831.2(AHI1):c.2961+17C>T
|
rs201291897
|
|
NM_001134831.2(AHI1):c.2961+19G>A
|
|
|
NM_001134831.2(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA
|
rs878855030
|
|
NM_001134831.2(AHI1):c.2961+7T>G
|
rs200658320
|
|
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA
|
rs786200964
|
|
NM_001134831.2(AHI1):c.2961+7_2961+9delinsGAC
|
rs2127973697
|
|
NM_001134831.2(AHI1):c.2961+8T>A
|
rs199887601
|
|
NM_001134831.2(AHI1):c.2961+9A>C
|
rs201870233
|
|
NM_001134831.2(AHI1):c.2961+9A>T
|
rs201870233
|
|
NM_001134831.2(AHI1):c.2962-11A>G
|
|
|
NM_001134831.2(AHI1):c.2962-15_2962-12del
|
|
|
NM_001134831.2(AHI1):c.2962-16A>T
|
|
|
NM_001134831.2(AHI1):c.2962-18T>G
|
|
|
NM_001134831.2(AHI1):c.2964G>A (p.Glu988=)
|
rs1356996626
|
|
NM_001134831.2(AHI1):c.297C>T (p.Asn99=)
|
|
|
NM_001134831.2(AHI1):c.2988+14A>G
|
rs1780540353
|
|
NM_001134831.2(AHI1):c.2988+20A>G
|
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.2989-15G>C
|
|
|
NM_001134831.2(AHI1):c.2989-8T>C
|
|
|
NM_001134831.2(AHI1):c.3024A>T (p.Ala1008=)
|
|
|
NM_001134831.2(AHI1):c.3069C>G (p.Thr1023=)
|
|
|
NM_001134831.2(AHI1):c.3069C>T (p.Thr1023=)
|
|
|
NM_001134831.2(AHI1):c.3075A>G (p.Gln1025=)
|
|
|
NM_001134831.2(AHI1):c.3081T>C (p.Ile1027=)
|
|
|
NM_001134831.2(AHI1):c.3084A>G (p.Leu1028=)
|
|
|
NM_001134831.2(AHI1):c.309C>T (p.Asn103=)
|
|
|
NM_001134831.2(AHI1):c.3105G>A (p.Gln1035=)
|
|
|
NM_001134831.2(AHI1):c.3109+17C>G
|
|
|
NM_001134831.2(AHI1):c.3109+19T>C
|
|
|
NM_001134831.2(AHI1):c.3109+19T>G
|
|
|
NM_001134831.2(AHI1):c.3109+7C>T
|
|
|
NM_001134831.2(AHI1):c.3109+8C>A
|
|
|
NM_001134831.2(AHI1):c.3110-10C>A
|
|
|
NM_001134831.2(AHI1):c.3110-10C>G
|
|
|
NM_001134831.2(AHI1):c.3110-20dup
|
|
|
NM_001134831.2(AHI1):c.3110-4A>G
|
|
|
NM_001134831.2(AHI1):c.3110-6C>T
|
|
|
NM_001134831.2(AHI1):c.3110-9T>C
|
|
|
NM_001134831.2(AHI1):c.3111G>C (p.Gly1037=)
|
|
|
NM_001134831.2(AHI1):c.3126A>G (p.Glu1042=)
|
|
|
NM_001134831.2(AHI1):c.312A>G (p.Thr104=)
|
|
|
NM_001134831.2(AHI1):c.3156A>G (p.Thr1052=)
|
|
|
NM_001134831.2(AHI1):c.3165+9G>A
|
|
|
NM_001134831.2(AHI1):c.3166-12T>A
|
|
|
NM_001134831.2(AHI1):c.3166-13A>C
|
|
|
NM_001134831.2(AHI1):c.3166-14T>G
|
|
|
NM_001134831.2(AHI1):c.3166-16C>G
|
|
|
NM_001134831.2(AHI1):c.3166-17T>A
|
|
|
NM_001134831.2(AHI1):c.3166-5C>G
|
|
|
NM_001134831.2(AHI1):c.3166-7C>T
|
|
|
NM_001134831.2(AHI1):c.3166-9C>T
|
|
|
NM_001134831.2(AHI1):c.3196C>A (p.Arg1066=)
|
rs780163791
|
|
NM_001134831.2(AHI1):c.3201A>C (p.Ser1067=)
|
|
|
NM_001134831.2(AHI1):c.3208C>T (p.Leu1070=)
|
|
|
NM_001134831.2(AHI1):c.3222C>T (p.Arg1074=)
|
|
|
NM_001134831.2(AHI1):c.3237A>G (p.Arg1079=)
|
|
|
NM_001134831.2(AHI1):c.3252T>C (p.Asp1084=)
|
rs2128384644
|
|
NM_001134831.2(AHI1):c.3315T>C (p.His1105=)
|
|
|
NM_001134831.2(AHI1):c.3328+11T>C
|
rs2128384460
|
|
NM_001134831.2(AHI1):c.3328+13C>T
|
|
|
NM_001134831.2(AHI1):c.3328+15C>G
|
|
|
NM_001134831.2(AHI1):c.3328+15C>T
|
|
|
NM_001134831.2(AHI1):c.3328+8T>G
|
|
|
NM_001134831.2(AHI1):c.3329-12T>C
|
rs2128376571
|
|
NM_001134831.2(AHI1):c.3329-17C>T
|
|
|
NM_001134831.2(AHI1):c.3329-7A>C
|
|
|
NM_001134831.2(AHI1):c.3329-8A>G
|
|
|
NM_001134831.2(AHI1):c.3329-9C>T
|
|
|
NM_001134831.2(AHI1):c.3330A>C (p.Thr1110=)
|
|
|
NM_001134831.2(AHI1):c.3345G>T (p.Leu1115=)
|
|
|
NM_001134831.2(AHI1):c.3351T>G (p.Pro1117=)
|
|
|
NM_001134831.2(AHI1):c.336T>C (p.Asn112=)
|
|
|
NM_001134831.2(AHI1):c.3384T>C (p.Pro1128=)
|
|
|
NM_001134831.2(AHI1):c.3426+11T>C
|
|
|
NM_001134831.2(AHI1):c.3426+12T>C
|
rs1786313203
|
|
NM_001134831.2(AHI1):c.3426+18T>C
|
|
|
NM_001134831.2(AHI1):c.3426+20C>A
|
|
|
NM_001134831.2(AHI1):c.3426+20C>T
|
|
|
NM_001134831.2(AHI1):c.3427-14C>T
|
|
|
NM_001134831.2(AHI1):c.3427-6C>T
|
|
|
NM_001134831.2(AHI1):c.3427-8T>G
|
|
|
NM_001134831.2(AHI1):c.3427-8_3427-6del
|
rs559510247
|
|
NM_001134831.2(AHI1):c.3432A>G (p.Ser1144=)
|
|
|
NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)
|
|
|
NM_001134831.2(AHI1):c.3450C>T (p.Ser1150=)
|
|
|
NM_001134831.2(AHI1):c.3453G>A (p.Gln1151=)
|
|
|
NM_001134831.2(AHI1):c.3456C>T (p.Asp1152=)
|
|
|
NM_001134831.2(AHI1):c.3471A>C (p.Ser1157=)
|
|
|
NM_001134831.2(AHI1):c.3485+16A>G
|
rs2128350907
|
|
NM_001134831.2(AHI1):c.3485+17A>G
|
|
|
NM_001134831.2(AHI1):c.3485+18A>G
|
|
|
NM_001134831.2(AHI1):c.3485+8A>G
|
|
|
NM_001134831.2(AHI1):c.3486-10C>T
|
|
|
NM_001134831.2(AHI1):c.3486-11C>T
|
|
|
NM_001134831.2(AHI1):c.3486-15C>A
|
|
|
NM_001134831.2(AHI1):c.3486-4A>G
|
rs534053819
|
|
NM_001134831.2(AHI1):c.3504A>G (p.Glu1168=)
|
rs973295818
|
|
NM_001134831.2(AHI1):c.3510C>T (p.Ser1170=)
|
|
|
NM_001134831.2(AHI1):c.3543G>A (p.Arg1181=)
|
rs1782201495
|
|
NM_001134831.2(AHI1):c.3567C>G (p.Gly1189=)
|
|
|
NM_001134831.2(AHI1):c.3568A>C (p.Arg1190=)
|
|
|
NM_001134831.2(AHI1):c.3582A>G (p.Leu1194=)
|
rs1337536400
|
|
NM_001134831.2(AHI1):c.3588+11A>C
|
|
|
NM_001134831.2(AHI1):c.3588+16A>G
|
|
|
NM_001134831.2(AHI1):c.3588+17T>C
|
|
|
NM_001134831.2(AHI1):c.3588+18A>T
|
|
|
NM_001134831.2(AHI1):c.3588+9A>G
|
|
|
NM_001134831.2(AHI1):c.3589-11T>C
|
|
|
NM_001134831.2(AHI1):c.3589-14A>G
|
|
|
NM_001134831.2(AHI1):c.3589-14A>T
|
|
|
NM_001134831.2(AHI1):c.3589-5dup
|
rs763223260
|
|
NM_001134831.2(AHI1):c.372G>A (p.Lys124=)
|
|
|
NM_001134831.2(AHI1):c.381A>G (p.Lys127=)
|
|
|
NM_001134831.2(AHI1):c.390A>C (p.Ile130=)
|
|
|
NM_001134831.2(AHI1):c.414A>G (p.Thr138=)
|
|
|
NM_001134831.2(AHI1):c.428C>G (p.Pro143Arg)
|
rs192524061
|
|
NM_001134831.2(AHI1):c.429G>A (p.Pro143=)
|
|
|
NM_001134831.2(AHI1):c.441G>A (p.Glu147=)
|
|
|
NM_001134831.2(AHI1):c.456T>G (p.Ser152=)
|
rs1488249011
|
|
NM_001134831.2(AHI1):c.45C>G (p.Arg15=)
|
|
|
NM_001134831.2(AHI1):c.462C>T (p.His154=)
|
|
|
NM_001134831.2(AHI1):c.471A>G (p.Thr157=)
|
|
|
NM_001134831.2(AHI1):c.486G>A (p.Gln162=)
|
rs2128098201
|
|
NM_001134831.2(AHI1):c.492C>T (p.Gly164=)
|
|
|
NM_001134831.2(AHI1):c.51A>G (p.Glu17=)
|
|
|
NM_001134831.2(AHI1):c.54A>G (p.Glu18=)
|
|
|
NM_001134831.2(AHI1):c.55T>C (p.Leu19=)
|
|
|
NM_001134831.2(AHI1):c.573A>G (p.Ala191=)
|
|
|
NM_001134831.2(AHI1):c.573A>T (p.Ala191=)
|
rs200993978
|
|
NM_001134831.2(AHI1):c.57G>A (p.Leu19=)
|
|
|
NM_001134831.2(AHI1):c.582C>T (p.Cys194=)
|
|
|
NM_001134831.2(AHI1):c.606G>A (p.Lys202=)
|
|
|
NM_001134831.2(AHI1):c.624A>T (p.Ile208=)
|
|
|
NM_001134831.2(AHI1):c.63G>A (p.Lys21=)
|
rs2128134408
|
|
NM_001134831.2(AHI1):c.663A>G (p.Ser221=)
|
|
|
NM_001134831.2(AHI1):c.681T>C (p.Asp227=)
|
|
|
NM_001134831.2(AHI1):c.684C>T (p.Asp228=)
|
|
|
NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu)
|
rs748182443
|
|
NM_001134831.2(AHI1):c.738A>G (p.Lys246=)
|
|
|
NM_001134831.2(AHI1):c.744A>G (p.Glu248=)
|
rs543954264
|
|
NM_001134831.2(AHI1):c.749+11A>C
|
rs779376033
|
|
NM_001134831.2(AHI1):c.749+12T>C
|
rs1236154279
|
|
NM_001134831.2(AHI1):c.749+13T>A
|
|
|
NM_001134831.2(AHI1):c.749+15A>G
|
|
|
NM_001134831.2(AHI1):c.749+17A>T
|
rs943581343
|
|
NM_001134831.2(AHI1):c.750-10A>G
|
|
|
NM_001134831.2(AHI1):c.750-16T>C
|
|
|
NM_001134831.2(AHI1):c.750-18C>T
|
|
|
NM_001134831.2(AHI1):c.750-19A>G
|
|
|
NM_001134831.2(AHI1):c.750-19dup
|
|
|
NM_001134831.2(AHI1):c.753A>G (p.Thr251=)
|
|
|
NM_001134831.2(AHI1):c.756G>A (p.Leu252=)
|
|
|
NM_001134831.2(AHI1):c.765T>G (p.Ser255=)
|
|
|
NM_001134831.2(AHI1):c.813A>G (p.Ser271=)
|
|
|
NM_001134831.2(AHI1):c.849C>T (p.Ser283=)
|
|
|
NM_001134831.2(AHI1):c.885T>C (p.Asp295=)
|
|
|
NM_001134831.2(AHI1):c.888T>C (p.Asp296=)
|
|
|
NM_001134831.2(AHI1):c.891A>G (p.Thr297=)
|
|
|
NM_001134831.2(AHI1):c.903A>T (p.Pro301=)
|
|
|
NM_001134831.2(AHI1):c.931+14A>G
|
|
|
NM_001134831.2(AHI1):c.931+8A>C
|
|
|
NM_001134831.2(AHI1):c.932-12C>A
|
|
|
NM_001134831.2(AHI1):c.932-15T>C
|
|
|
NM_001134831.2(AHI1):c.932-7C>T
|
|
|
NM_001134831.2(AHI1):c.93A>G (p.Lys31=)
|
|
|
NM_001134831.2(AHI1):c.951T>C (p.Asp317=)
|
|
|
NM_001134831.2(AHI1):c.957T>C (p.Asp319=)
|
|
|
NM_001134831.2(AHI1):c.966T>C (p.Gly322=)
|
|
|
NM_001134831.2(AHI1):c.966T>G (p.Gly322=)
|
|
|
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)
|
rs777420094
|
|
NM_001134831.2(AHI1):c.992G>A (p.Ser331Asn)
|
rs567183382
|
|
NM_001134831.2(AHI1):c.993C>T (p.Ser331=)
|
|
|
NM_001142301.1(TMEM67):c.2522-6del
|
rs747342409
|
|
NM_001173990.3(TMEM216):c.108G>A (p.Leu36=)
|
|
|
NM_001173990.3(TMEM216):c.109C>T (p.Leu37=)
|
|
|
NM_001173990.3(TMEM216):c.111G>A (p.Leu37=)
|
|
|
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)
|
rs900061092
|
|
NM_001173990.3(TMEM216):c.132T>C (p.Tyr44=)
|
rs2135190185
|
|
NM_001173990.3(TMEM216):c.136+10G>A
|
|
|
NM_001173990.3(TMEM216):c.136+10G>C
|
rs997518388
|
|
NM_001173990.3(TMEM216):c.136+10G>T
|
rs997518388
|
|
NM_001173990.3(TMEM216):c.136+11C>T
|
|
|
NM_001173990.3(TMEM216):c.136+16G>T
|
|
|
NM_001173990.3(TMEM216):c.136+17G>T
|
|
|
NM_001173990.3(TMEM216):c.136+19T>C
|
|
|
NM_001173990.3(TMEM216):c.136+7A>G
|
rs2135190198
|
|
NM_001173990.3(TMEM216):c.136+7_136+10del
|
rs1365805182
|
|
NM_001173990.3(TMEM216):c.136+9G>C
|
|
|
NM_001173990.3(TMEM216):c.137-10G>C
|
rs1410739356
|
|
NM_001173990.3(TMEM216):c.137-17G>A
|
|
|
NM_001173990.3(TMEM216):c.137-18dup
|
|
|
NM_001173990.3(TMEM216):c.137-8A>G
|
rs2135190973
|
|
NM_001173990.3(TMEM216):c.138T>C (p.Gly46=)
|
|
|
NM_001173990.3(TMEM216):c.142C>T (p.Leu48=)
|
|
|
NM_001173990.3(TMEM216):c.147A>G (p.Leu49=)
|
rs2135191066
|
|
NM_001173990.3(TMEM216):c.166C>T (p.Leu56=)
|
rs751270974
|
|
NM_001173990.3(TMEM216):c.16C>T (p.Leu6=)
|
|
|
NM_001173990.3(TMEM216):c.189C>A (p.Leu63=)
|
|
|
NM_001173990.3(TMEM216):c.201T>A (p.Leu67=)
|
|
|
NM_001173990.3(TMEM216):c.213A>G (p.Val71=)
|
rs1590642429
|
|
NM_001173990.3(TMEM216):c.219C>T (p.Arg73=)
|
|
|
NM_001173990.3(TMEM216):c.229+10G>A
|
rs1590642512
|
|
NM_001173990.3(TMEM216):c.229+15G>C
|
|
|
NM_001173990.3(TMEM216):c.229+17G>A
|
|
|
NM_001173990.3(TMEM216):c.229+19A>G
|
|
|
NM_001173990.3(TMEM216):c.230-12T>C
|
|
|
NM_001173990.3(TMEM216):c.230-16G>A
|
|
|
NM_001173990.3(TMEM216):c.230-20C>T
|
|
|
NM_001173990.3(TMEM216):c.240A>G (p.Gly80=)
|
|
|
NM_001173990.3(TMEM216):c.264G>C (p.Pro88=)
|
rs3741265
|
|
NM_001173990.3(TMEM216):c.273T>C (p.Ile91=)
|
rs1301636574
|
|
NM_001173990.3(TMEM216):c.279G>A (p.Val93=)
|
|
|
NM_001173990.3(TMEM216):c.27G>T (p.Ala9=)
|
rs2135189216
|
|
NM_001173990.3(TMEM216):c.282C>A (p.Ala94=)
|
rs2135196141
|
|
NM_001173990.3(TMEM216):c.282C>T (p.Ala94=)
|
|
|
NM_001173990.3(TMEM216):c.312C>T (p.Ser104=)
|
rs748312089
|
|
NM_001173990.3(TMEM216):c.322C>T (p.Leu108=)
|
rs1468325310
|
|
NM_001173990.3(TMEM216):c.34+10C>G
|
|
|
NM_001173990.3(TMEM216):c.34+10C>T
|
|
|
NM_001173990.3(TMEM216):c.34+11G>A
|
|
|
NM_001173990.3(TMEM216):c.34+11G>T
|
|
|
NM_001173990.3(TMEM216):c.34+12G>A
|
|
|
NM_001173990.3(TMEM216):c.34+18_34+21del
|
rs940443692
|
|
NM_001173990.3(TMEM216):c.34+7T>A
|
|
|
NM_001173990.3(TMEM216):c.345C>T (p.Arg115=)
|
rs2135196327
|
|
NM_001173990.3(TMEM216):c.35-10C>G
|
rs1425807113
|
|
NM_001173990.3(TMEM216):c.35-10_35-8dup
|
|
|
NM_001173990.3(TMEM216):c.35-13G>C
|
|
|
NM_001173990.3(TMEM216):c.35-18T>A
|
|
|
NM_001173990.3(TMEM216):c.35-18T>G
|
|
|
NM_001173990.3(TMEM216):c.35-6T>C
|
rs2135189967
|
|
NM_001173990.3(TMEM216):c.35-8T>G
|
|
|
NM_001173990.3(TMEM216):c.35-9C>G
|
rs1590641748
|
|
NM_001173990.3(TMEM216):c.354C>T (p.Ala118=)
|
rs2135196342
|
|
NM_001173990.3(TMEM216):c.36T>A (p.Gly12=)
|
|
|
NM_001173990.3(TMEM216):c.378C>T (p.Phe126=)
|
|
|
NM_001173990.3(TMEM216):c.387C>G (p.Gly129=)
|
|
|
NM_001173990.3(TMEM216):c.411C>T (p.Leu137=)
|
|
|
NM_001173990.3(TMEM216):c.414C>A (p.Thr138=)
|
rs551378370
|
|
NM_001173990.3(TMEM216):c.414C>G (p.Thr138=)
|
|
|
NM_001173990.3(TMEM216):c.414C>T (p.Thr138=)
|
rs551378370
|
|
NM_001173990.3(TMEM216):c.423T>C (p.Ala141=)
|
rs1363465105
|
|
NM_001173990.3(TMEM216):c.431+10C>T
|
|
|
NM_001173990.3(TMEM216):c.431+17A>C
|
|
|
NM_001173990.3(TMEM216):c.431+7C>T
|
rs976039770
|
|
NM_001173990.3(TMEM216):c.431+9G>A
|
|
|
NM_001173990.3(TMEM216):c.432-10G>A
|
|
|
NM_001173990.3(TMEM216):c.432-12T>C
|
|
|
NM_001173990.3(TMEM216):c.432-13A>G
|
|
|
NM_001173990.3(TMEM216):c.432-15C>A
|
|
|
NM_001173990.3(TMEM216):c.432-16G>C
|
|
|
NM_001173990.3(TMEM216):c.432-19T>C
|
|
|
NM_001173990.3(TMEM216):c.435T>A (p.Ile145=)
|
rs2135196990
|
|
NM_001173990.3(TMEM216):c.43T>C (p.Leu15=)
|
|
|
NM_001173990.3(TMEM216):c.4C>T (p.Leu2=)
|
rs1554972407
|
|
NM_001173990.3(TMEM216):c.67C>T (p.Leu23=)
|
rs1346125980
|
|
NM_001173990.3(TMEM216):c.69G>A (p.Leu23=)
|
|
|
NM_001173990.3(TMEM216):c.6G>A (p.Leu2=)
|
|
|
NM_001173990.3(TMEM216):c.75T>C (p.Phe25=)
|
rs2135190080
|
|
NM_001173990.3(TMEM216):c.76C>T (p.Leu26=)
|
|
|
NM_001173990.3(TMEM216):c.81C>T (p.Asn27=)
|
|
|
NM_001173990.3(TMEM216):c.84G>A (p.Gly28=)
|
rs1237830618
|
|
NM_001174150.2(ARL13B):c.1006C>A (p.Arg336=)
|
|
|
NM_001174150.2(ARL13B):c.1023A>G (p.Ser341=)
|
rs908792896
|
|
NM_001174150.2(ARL13B):c.1024+10_1024+11del
|
rs780446984
|
|
NM_001174150.2(ARL13B):c.1024+22_1024+26del
|
rs1443308353
|
|
NM_001174150.2(ARL13B):c.1024+9T>A
|
|
|
NM_001174150.2(ARL13B):c.1025-20T>C
|
|
|
NM_001174150.2(ARL13B):c.1050A>G (p.Lys350=)
|
rs2107191221
|
|
NM_001174150.2(ARL13B):c.1089T>C (p.Asn363=)
|
rs2107191521
|
|
NM_001174150.2(ARL13B):c.108A>G (p.Ala36=)
|
|
|
NM_001174150.2(ARL13B):c.1125C>T (p.Pro375=)
|
|
|
NM_001174150.2(ARL13B):c.1134T>A (p.Pro378=)
|
rs1401884380
|
|
NM_001174150.2(ARL13B):c.1137T>A (p.Pro379=)
|
rs1325555759
|
|
NM_001174150.2(ARL13B):c.1141+7A>G
|
rs2107192117
|
|
NM_001174150.2(ARL13B):c.1142-12C>G
|
|
|
NM_001174150.2(ARL13B):c.1142-8_1142-3del
|
rs748669767
|
|
NM_001174150.2(ARL13B):c.1164C>T (p.Val388=)
|
rs1474936663
|
|
NM_001174150.2(ARL13B):c.1182T>A (p.Leu394=)
|
|
|
NM_001174150.2(ARL13B):c.1210+14A>G
|
|
|
NM_001174150.2(ARL13B):c.1210+16del
|
rs2107198501
|
|
NM_001174150.2(ARL13B):c.1210+7C>A
|
rs1315475247
|
|
NM_001174150.2(ARL13B):c.1210+9A>T
|
|
|
NM_001174150.2(ARL13B):c.1211-10C>A
|
rs202221552
|
|
NM_001174150.2(ARL13B):c.1211-10C>T
|
rs202221552
|
|
NM_001174150.2(ARL13B):c.1211-11T>A
|
|
|
NM_001174150.2(ARL13B):c.1211-18T>C
|
|
|
NM_001174150.2(ARL13B):c.1211-5_1211-4del
|
|
|
NM_001174150.2(ARL13B):c.1239G>C (p.Leu413=)
|
rs2107208220
|
|
NM_001174150.2(ARL13B):c.1248A>G (p.Pro416=)
|
rs753337159
|
|
NM_001174150.2(ARL13B):c.1284A>C (p.Ser428=)
|
|
|
NM_001174150.2(ARL13B):c.12G>C (p.Leu4=)
|
rs1575912966
|
|
NM_001174150.2(ARL13B):c.130+7T>G
|
|
|
NM_001174150.2(ARL13B):c.130+8G>A
|
|
|
NM_001174150.2(ARL13B):c.131-11A>G
|
rs1320529150
|
|
NM_001174150.2(ARL13B):c.131-9T>C
|
|
|
NM_001174150.2(ARL13B):c.18C>T (p.Ala6=)
|
|
|
NM_001174150.2(ARL13B):c.380+8A>T
|
rs1367254699
|
|
NM_001174150.2(ARL13B):c.429C>T (p.Val143=)
|
rs2107111571
|
|
NM_001174150.2(ARL13B):c.454T>C (p.Leu152=)
|
|
|
NM_001174150.2(ARL13B):c.477G>T (p.Leu159=)
|
|
|
NM_001174150.2(ARL13B):c.486+12T>G
|
rs778884829
|
|
NM_001174150.2(ARL13B):c.486+13T>G
|
|
|
NM_001174150.2(ARL13B):c.486+15T>A
|
|
|
NM_001174150.2(ARL13B):c.487-11T>C
|
rs2107118009
|
|
NM_001174150.2(ARL13B):c.487-15_487-12del
|
rs2107117976
|
|
NM_001174150.2(ARL13B):c.487-16T>C
|
|
|
NM_001174150.2(ARL13B):c.487-5T>C
|
rs2076770928
|
|
NM_001174150.2(ARL13B):c.556C>T (p.Leu186=)
|
|
|
NM_001174150.2(ARL13B):c.57C>A (p.Val19=)
|
rs1326813345
|
|
NM_001174150.2(ARL13B):c.59+14del
|
|
|
NM_001174150.2(ARL13B):c.59+15G>A
|
|
|
NM_001174150.2(ARL13B):c.59+18G>C
|
rs748002391
|
|
NM_001174150.2(ARL13B):c.59+20C>G
|
|
|
NM_001174150.2(ARL13B):c.60-18A>G
|
|
|
NM_001174150.2(ARL13B):c.60-19A>T
|
|
|
NM_001174150.2(ARL13B):c.60-20T>A
|
rs2107383939
|
|
NM_001174150.2(ARL13B):c.648A>G (p.Lys216=)
|
|
|
NM_001174150.2(ARL13B):c.689+12_689+13delinsCC
|
rs2107120000
|
|
NM_001174150.2(ARL13B):c.689+8_689+11del
|
rs2107119977
|
|
NM_001174150.2(ARL13B):c.6C>T (p.Phe2=)
|
rs2107299111
|
|
NM_001174150.2(ARL13B):c.783A>G (p.Ala261=)
|
rs1239193677
|
|
NM_001174150.2(ARL13B):c.798+16A>G
|
|
|
NM_001174150.2(ARL13B):c.798+8T>A
|
rs1044514627
|
|
NM_001174150.2(ARL13B):c.798+8T>C
|
rs1044514627
|
|
NM_001174150.2(ARL13B):c.799-18T>C
|
rs2107150772
|
|
NM_001174150.2(ARL13B):c.807A>G (p.Gly269=)
|
|
|
NM_001174150.2(ARL13B):c.819A>G (p.Arg273=)
|
rs2107151106
|
|
NM_001174150.2(ARL13B):c.87T>G (p.Leu29=)
|
|
|
NM_001174150.2(ARL13B):c.996T>C (p.Asp332=)
|
|
|
NM_001244189.2(KIAA0586):c.9+12G>C
|
rs2140365548
|
|
NM_001244189.2(KIAA0586):c.9+16C>T
|
|
|
NM_001329943.3(KIAA0586):c.*20A>G
|
|
|
NM_001329943.3(KIAA0586):c.-1T>C
|
|
|
NM_001329943.3(KIAA0586):c.-31T>G
|
|
|
NM_001329943.3(KIAA0586):c.-36G>A
|
rs781284563
|
|
NM_001329943.3(KIAA0586):c.-37C>G
|
|
|
NM_001329943.3(KIAA0586):c.-47A>G
|
|
|
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
|
|
|
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
|
|
|
NM_001329943.3(KIAA0586):c.1129+16A>C
|
rs1263079347
|
|
NM_001329943.3(KIAA0586):c.1129+20G>C
|
|
|
NM_001329943.3(KIAA0586):c.1130-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.1130-16A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-18A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-20C>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-7A>G
|
rs1656520928
|
|
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
|
|
|
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
|
|
|
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=)
|
rs2039565444
|
|
NM_001329943.3(KIAA0586):c.1253+12A>T
|
|
|
NM_001329943.3(KIAA0586):c.1253+17G>A
|
|
|
NM_001329943.3(KIAA0586):c.1253+19A>C
|
|
|
NM_001329943.3(KIAA0586):c.1254-12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
|
|
|
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
|
|
|
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
|
|
|
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
|
|
|
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
|
|
|
NM_001329943.3(KIAA0586):c.1362+10G>T
|
|
|
NM_001329943.3(KIAA0586):c.1362+17C>T
|
|
|
NM_001329943.3(KIAA0586):c.1363-11T>C
|
rs2140842996
|
|
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
|
|
|
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
|
|
|
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=)
|
rs2140843741
|
|
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
|
|
|
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
|
|
|
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
|
|
|
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
|
|
|
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
|
|
|
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
|
|
|
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
|
|
|
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
|
|
|
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
|
|
|
NM_001329943.3(KIAA0586):c.1583+17A>G
|
|
|
NM_001329943.3(KIAA0586):c.1583+7G>A
|
rs1333490071
|
|
NM_001329943.3(KIAA0586):c.1584-14T>C
|
rs2140853060
|
|
NM_001329943.3(KIAA0586):c.1584-18C>A
|
|
|
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=)
|
rs776054856
|
|
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
|
|
|
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
|
|
|
NM_001329943.3(KIAA0586):c.1656+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1656+17A>T
|
|
|
NM_001329943.3(KIAA0586):c.1656+19C>A
|
|
|
NM_001329943.3(KIAA0586):c.1657-13T>C
|
|
|
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
|
|
|
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
|
|
|
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
|
|
|
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
|
|
|
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
|
|
|
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
|
|
|
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
|
|
|
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
|
|
|
NM_001329943.3(KIAA0586):c.1884+15T>C
|
rs1313237040
|
|
NM_001329943.3(KIAA0586):c.1885-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
|
|
|
NM_001329943.3(KIAA0586):c.1885-15A>T
|
|
|
NM_001329943.3(KIAA0586):c.1885-5C>T
|
rs752142962
|
|
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=)
|
rs376649351
|
|
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=)
|
rs1477846398
|
|
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
|
|
|
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
|
|
|
NM_001329943.3(KIAA0586):c.199+13A>C
|
rs769176872
|
|
NM_001329943.3(KIAA0586):c.199+13A>G
|
|
|
NM_001329943.3(KIAA0586):c.199+15G>A
|
|
|
NM_001329943.3(KIAA0586):c.200-5G>A
|
|
|
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
|
|
|
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=)
|
rs2140887489
|
|
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=)
|
rs190081177
|
|
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
|
|
|
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
|
|
|
NM_001329943.3(KIAA0586):c.2059+20A>G
|
|
|
NM_001329943.3(KIAA0586):c.2060-16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2060-19C>T
|
|
|
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
|
|
|
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
|
|
|
NM_001329943.3(KIAA0586):c.2254+17T>C
|
rs2140941167
|
|
NM_001329943.3(KIAA0586):c.2254+20G>T
|
|
|
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
|
|
|
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
|
|
|
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
|
|
|
NM_001329943.3(KIAA0586):c.2442+11del
|
rs753806115
|
|
NM_001329943.3(KIAA0586):c.2442+15A>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+9G>A
|
rs1490718693
|
|
NM_001329943.3(KIAA0586):c.2443-14G>A
|
|
|
NM_001329943.3(KIAA0586):c.2443-18T>C
|
|
|
NM_001329943.3(KIAA0586):c.2443-19A>G
|
|
|
NM_001329943.3(KIAA0586):c.2443-4T>C
|
rs911579183
|
|
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
|
|
|
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
|
|
|
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
|
|
|
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
|
|
|
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=)
|
rs761492303
|
|
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=)
|
rs751246498
|
|
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
|
|
|
NM_001329943.3(KIAA0586):c.2553+20C>A
|
|
|
NM_001329943.3(KIAA0586):c.2554-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.2554-9C>A
|
|
|
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
|
|
|
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
|
|
|
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
|
|
|
NM_001329943.3(KIAA0586):c.2634+12T>C
|
rs766964981
|
|
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=)
|
rs2037178345
|
|
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
|
|
|
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
|
|
|
NM_001329943.3(KIAA0586):c.2825+15T>G
|
|
|
NM_001329943.3(KIAA0586):c.2826-10A>G
|
|
|
NM_001329943.3(KIAA0586):c.2826-11C>T
|
|
|
NM_001329943.3(KIAA0586):c.2826-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
|
|
|
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
|
|
|
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=)
|
rs1187492772
|
|
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
|
|
|
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
|
|
|
NM_001329943.3(KIAA0586):c.2944+13G>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+16T>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+17T>G
|
|
|
NM_001329943.3(KIAA0586):c.2944+19T>A
|
|
|
NM_001329943.3(KIAA0586):c.2945-4T>C
|
|
|
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
|
|
|
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=)
|
rs1284387922
|
|
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
|
|
|
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
|
|
|
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
|
|
|
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>G
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>T
|
|
|
NM_001329943.3(KIAA0586):c.3144+7G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-12T>C
|
|
|
NM_001329943.3(KIAA0586):c.3145-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-8T>C
|
|
|
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=)
|
rs528416301
|
|
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
|
|
|
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG
|
rs2141183723
|
|
NM_001329943.3(KIAA0586):c.3305-17T>A
|
|
|
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
|
|
|
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
|
|
|
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
|
|
|
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
|
|
|
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
|
|
|
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
|
|
|
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
|
|
|
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
|
|
|
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
|
|
|
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=)
|
rs2141193804
|
|
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=)
|
rs2140373069
|
|
NM_001329943.3(KIAA0586):c.340+13T>G
|
|
|
NM_001329943.3(KIAA0586):c.340+14A>G
|
|
|
NM_001329943.3(KIAA0586):c.341-17G>C
|
|
|
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
|
|
|
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=)
|
rs759687892
|
|
NM_001329943.3(KIAA0586):c.3527+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.3528-15T>G
|
rs752835695
|
|
NM_001329943.3(KIAA0586):c.3528-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
|
|
|
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
|
|
|
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=)
|
rs367676896
|
|
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=)
|
rs2141202944
|
|
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=)
|
rs368352741
|
|
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
|
|
|
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=)
|
rs1489789614
|
|
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
|
|
|
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=)
|
rs372215354
|
|
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
|
|
|
NM_001329943.3(KIAA0586):c.3781+18A>G
|
|
|
NM_001329943.3(KIAA0586):c.3782-18T>A
|
|
|
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
|
|
|
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
|
|
|
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
|
|
|
NM_001329943.3(KIAA0586):c.3858+16C>T
|
|
|
NM_001329943.3(KIAA0586):c.3858+7A>G
|
rs771949597
|
|
NM_001329943.3(KIAA0586):c.3858+9C>T
|
|
|
NM_001329943.3(KIAA0586):c.3859-13A>G
|
|
|
NM_001329943.3(KIAA0586):c.3859-16T>A
|
|
|
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
|
|
|
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
|
|
|
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=)
|
rs757393939
|
|
NM_001329943.3(KIAA0586):c.3990+19G>A
|
|
|
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
|
|
|
NM_001329943.3(KIAA0586):c.411-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1347C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1348dup
|
|
|
NM_001329943.3(KIAA0586):c.411-1349C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1355C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1380G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1491G>T
|
rs2140520688
|
|
NM_001329943.3(KIAA0586):c.411-15dup
|
|
|
NM_001329943.3(KIAA0586):c.411-4A>G
|
|
|
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
|
|
|
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
|
|
|
NM_001329943.3(KIAA0586):c.4168+13A>G
|
rs375052904
|
|
NM_001329943.3(KIAA0586):c.4168+8C>A
|
rs1331278032
|
|
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=)
|
rs369935221
|
|
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
|
|
|
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4323+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.4324-11A>T
|
|
|
NM_001329943.3(KIAA0586):c.4324-16A>G
|
rs376320678
|
|
NM_001329943.3(KIAA0586):c.4324-6A>G
|
|
|
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=)
|
rs2141479527
|
|
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=)
|
rs2141479570
|
|
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
|
|
|
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
|
|
|
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
|
|
|
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
|
|
|
NM_001329943.3(KIAA0586):c.4429+11T>A
|
|
|
NM_001329943.3(KIAA0586):c.4429+16A>G
|
|
|
NM_001329943.3(KIAA0586):c.4429+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.4430-15T>A
|
rs1212572767
|
|
NM_001329943.3(KIAA0586):c.4430-15T>C
|
|
|
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=)
|
rs780867053
|
|
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
|
|
|
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
|
|
|
NM_001329943.3(KIAA0586):c.4495+12A>G
|
rs2140098467
|
|
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
|
|
|
NM_001329943.3(KIAA0586):c.4495+3729T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+3730T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3732T>A
|
|
|
NM_001329943.3(KIAA0586):c.4495+3737T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3796G>T
|
|
|
NM_001329943.3(KIAA0586):c.4495+7T>C
|
|
|
NM_001329943.3(KIAA0586):c.4496-17G>A
|
|
|
NM_001329943.3(KIAA0586):c.4496-3794A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3799A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3803T>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3816C>T
|
|
|
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val)
|
rs2140156164
|
|
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
|
|
|
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
|
|
|
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn)
|
rs2047081237
|
|
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
|
|
|
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
|
|
|
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
|
|
|
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
|
|
|
NM_001329943.3(KIAA0586):c.585+17_585+29del
|
|
|
NM_001329943.3(KIAA0586):c.586-16G>T
|
|
|
NM_001329943.3(KIAA0586):c.586-17T>C
|
|
|
NM_001329943.3(KIAA0586):c.586-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
|
|
|
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
|
|
|
NM_001329943.3(KIAA0586):c.729C>T (p.His243=)
|
rs774888789
|
|
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu)
|
rs577258273
|
|
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=)
|
rs1487078229
|
|
NM_001329943.3(KIAA0586):c.807+10A>C
|
rs368833496
|
|
NM_001329943.3(KIAA0586):c.807+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.807+19G>C
|
|
|
NM_001329943.3(KIAA0586):c.807+8del
|
rs2140568510
|
|
NM_001329943.3(KIAA0586):c.807+9A>G
|
rs2140568561
|
|
NM_001329943.3(KIAA0586):c.808-13T>G
|
rs1364907790
|
|
NM_001329943.3(KIAA0586):c.808-20A>C
|
|
|
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
|
|
|
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=)
|
rs2140662420
|
|
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
|
|
|
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
|
|
|
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
|
|
|
NM_001329943.3(KIAA0586):c.961+11G>T
|
|
|
NM_001329943.3(KIAA0586):c.962-14A>C
|
rs200528557
|
|
NM_001329943.3(KIAA0586):c.962-19A>T
|
|
|
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
|
|
|
NM_001378615.1(CC2D2A):c.1002G>A (p.Leu334=)
|
|
|
NM_001378615.1(CC2D2A):c.1005G>A (p.Leu335=)
|
|
|
NM_001378615.1(CC2D2A):c.1014C>T (p.Asp338=)
|
|
|
NM_001378615.1(CC2D2A):c.1017+11A>G
|
|
|
NM_001378615.1(CC2D2A):c.1017+12C>T
|
|
|
NM_001378615.1(CC2D2A):c.1017+13C>T
|
|
|
NM_001378615.1(CC2D2A):c.1017+14C>T
|
|
|
NM_001378615.1(CC2D2A):c.1017+19C>T
|
|
|
NM_001378615.1(CC2D2A):c.1017+7G>T
|
rs137919504
|
|
NM_001378615.1(CC2D2A):c.1018-14T>C
|
|
|
NM_001378615.1(CC2D2A):c.1018-18C>T
|
|
|
NM_001378615.1(CC2D2A):c.1018-20T>A
|
|
|
NM_001378615.1(CC2D2A):c.1018-5T>G
|
rs2109013647
|
|
NM_001378615.1(CC2D2A):c.1018-6C>G
|
|
|
NM_001378615.1(CC2D2A):c.1018-6del
|
rs2109013642
|
|
NM_001378615.1(CC2D2A):c.1018-9C>T
|
|
|
NM_001378615.1(CC2D2A):c.1026A>G (p.Arg342=)
|
|
|
NM_001378615.1(CC2D2A):c.1035A>C (p.Gly345=)
|
|
|
NM_001378615.1(CC2D2A):c.1044C>T (p.Gly348=)
|
|
|
NM_001378615.1(CC2D2A):c.1068C>T (p.Pro356=)
|
rs2109013744
|
|
NM_001378615.1(CC2D2A):c.1071C>T (p.Ile357=)
|
|
|
NM_001378615.1(CC2D2A):c.1092G>A (p.Pro364=)
|
|
|
NM_001378615.1(CC2D2A):c.1092G>T (p.Pro364=)
|
rs774216288
|
|
NM_001378615.1(CC2D2A):c.1098A>T (p.Val366=)
|
|
|
NM_001378615.1(CC2D2A):c.1101A>G (p.Leu367=)
|
|
|
NM_001378615.1(CC2D2A):c.1110G>A (p.Glu370=)
|
rs1289826078
|
|
NM_001378615.1(CC2D2A):c.1117A>G (p.Ile373Val)
|
|
|
NM_001378615.1(CC2D2A):c.111A>T (p.Pro37=)
|
|
|
NM_001378615.1(CC2D2A):c.1122G>A (p.Lys374=)
|
|
|
NM_001378615.1(CC2D2A):c.1126G>C (p.Glu376Gln)
|
|
|
NM_001378615.1(CC2D2A):c.1127_1128delinsCA (p.Glu376Ala)
|
|
|
NM_001378615.1(CC2D2A):c.1149+10C>T
|
rs752000548
|
|
NM_001378615.1(CC2D2A):c.1149+15C>A
|
|
|
NM_001378615.1(CC2D2A):c.1149+19C>A
|
|
|
NM_001378615.1(CC2D2A):c.1149+19C>T
|
|
|
NM_001378615.1(CC2D2A):c.1150-13C>G
|
|
|
NM_001378615.1(CC2D2A):c.1150-13C>T
|
|
|
NM_001378615.1(CC2D2A):c.1150-15dup
|
|
|
NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)
|
|
|
NM_001378615.1(CC2D2A):c.1182G>A (p.Val394=)
|
|
|
NM_001378615.1(CC2D2A):c.1182G>C (p.Val394=)
|
|
|
NM_001378615.1(CC2D2A):c.1188A>G (p.Arg396=)
|
rs2109023994
|
|
NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)
|
|
|
NM_001378615.1(CC2D2A):c.1203T>C (p.Pro401=)
|
rs940435544
|
|
NM_001378615.1(CC2D2A):c.1218G>C (p.Leu406=)
|
|
|
NM_001378615.1(CC2D2A):c.123+16A>G
|
|
|
NM_001378615.1(CC2D2A):c.123+23_123+24del
|
rs960925783
|
|
NM_001378615.1(CC2D2A):c.123+9T>A
|
|
|
NM_001378615.1(CC2D2A):c.1236G>C (p.Gly412=)
|
|
|
NM_001378615.1(CC2D2A):c.124-13C>T
|
|
|
NM_001378615.1(CC2D2A):c.124-14C>A
|
|
|
NM_001378615.1(CC2D2A):c.124-18C>T
|
rs1162714204
|
|
NM_001378615.1(CC2D2A):c.124-9T>C
|
|
|
NM_001378615.1(CC2D2A):c.124-9_124-7del
|
|
|
NM_001378615.1(CC2D2A):c.1275T>C (p.His425=)
|
|
|
NM_001378615.1(CC2D2A):c.1281G>A (p.Leu427=)
|
|
|
NM_001378615.1(CC2D2A):c.1287C>A (p.Ala429=)
|
|
|
NM_001378615.1(CC2D2A):c.12G>A (p.Arg4=)
|
|
|
NM_001378615.1(CC2D2A):c.1305T>C (p.Tyr435=)
|
|
|
NM_001378615.1(CC2D2A):c.1350T>C (p.Leu450=)
|
|
|
NM_001378615.1(CC2D2A):c.1359+14C>A
|
|
|
NM_001378615.1(CC2D2A):c.1359+14C>T
|
|
|
NM_001378615.1(CC2D2A):c.1359+19A>T
|
|
|
NM_001378615.1(CC2D2A):c.1359+7G>T
|
|
|
NM_001378615.1(CC2D2A):c.1359+9G>T
|
rs369964702
|
|
NM_001378615.1(CC2D2A):c.1360-12T>A
|
rs1717637000
|
|
NM_001378615.1(CC2D2A):c.1360-13A>G
|
|
|
NM_001378615.1(CC2D2A):c.1360-15C>G
|
|
|
NM_001378615.1(CC2D2A):c.1360-8G>A
|
|
|
NM_001378615.1(CC2D2A):c.1360-9C>T
|
|
|
NM_001378615.1(CC2D2A):c.1365A>G (p.Gln455=)
|
|
|
NM_001378615.1(CC2D2A):c.1377T>C (p.Asn459=)
|
|
|
NM_001378615.1(CC2D2A):c.1392C>A (p.Gly464=)
|
rs755258233
|
|
NM_001378615.1(CC2D2A):c.1392C>G (p.Gly464=)
|
|
|
NM_001378615.1(CC2D2A):c.1392C>T (p.Gly464=)
|
|
|
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)
|
rs886059136
|
|
NM_001378615.1(CC2D2A):c.1422C>G (p.Leu474=)
|
rs377448964
|
|
NM_001378615.1(CC2D2A):c.1425T>C (p.Asp475=)
|
|
|
NM_001378615.1(CC2D2A):c.1431C>A (p.Ile477=)
|
|
|
NM_001378615.1(CC2D2A):c.1452T>C (p.Tyr484=)
|
rs2109025199
|
|
NM_001378615.1(CC2D2A):c.1466+13T>C
|
|
|
NM_001378615.1(CC2D2A):c.1466+14_1466+16del
|
rs751142207
|
|
NM_001378615.1(CC2D2A):c.1467-11A>G
|
|
|
NM_001378615.1(CC2D2A):c.1467-13T>C
|
|
|
NM_001378615.1(CC2D2A):c.1467-14A>G
|
|
|
NM_001378615.1(CC2D2A):c.1467-17G>A
|
|
|
NM_001378615.1(CC2D2A):c.1467-17G>T
|
|
|
NM_001378615.1(CC2D2A):c.1467-20T>C
|
|
|
NM_001378615.1(CC2D2A):c.1467-21_1467-20del
|
|
|
NM_001378615.1(CC2D2A):c.1467-4G>A
|
|
|
NM_001378615.1(CC2D2A):c.1467-7C>T
|
rs2109029775
|
|
NM_001378615.1(CC2D2A):c.1485T>C (p.Arg495=)
|
|
|
NM_001378615.1(CC2D2A):c.1494A>G (p.Glu498=)
|
|
|
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)
|
rs765810643
|
|
NM_001378615.1(CC2D2A):c.1512A>G (p.Thr504=)
|
|
|
NM_001378615.1(CC2D2A):c.1524T>C (p.Thr508=)
|
|
|
NM_001378615.1(CC2D2A):c.1545G>A (p.Glu515=)
|
|
|
NM_001378615.1(CC2D2A):c.1551A>G (p.Lys517=)
|
|
|
NM_001378615.1(CC2D2A):c.1554C>G (p.Ser518=)
|
|
|
NM_001378615.1(CC2D2A):c.1557T>G (p.Leu519=)
|
|
|
NM_001378615.1(CC2D2A):c.1607+19T>G
|
|
|
NM_001378615.1(CC2D2A):c.1607+24_1607+28del
|
rs2109029956
|
|
NM_001378615.1(CC2D2A):c.1608-18C>A
|
rs1303472925
|
|
NM_001378615.1(CC2D2A):c.1629A>C (p.Ala543=)
|
|
|
NM_001378615.1(CC2D2A):c.1638A>G (p.Glu546=)
|
|
|
NM_001378615.1(CC2D2A):c.165C>A (p.Ser55=)
|
|
|
NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=)
|
rs794727713
|
|
NM_001378615.1(CC2D2A):c.1677G>A (p.Leu559=)
|
rs1560170993
|
|
NM_001378615.1(CC2D2A):c.1680A>G (p.Leu560=)
|
rs1410261022
|
|
NM_001378615.1(CC2D2A):c.1692G>A (p.Thr564=)
|
|
|
NM_001378615.1(CC2D2A):c.1695G>A (p.Glu565=)
|
|
|
NM_001378615.1(CC2D2A):c.1710G>A (p.Lys570=)
|
|
|
NM_001378615.1(CC2D2A):c.1722C>T (p.Tyr574=)
|
|
|
NM_001378615.1(CC2D2A):c.1731G>T (p.Ser577=)
|
|
|
NM_001378615.1(CC2D2A):c.174C>T (p.Gly58=)
|
|
|
NM_001378615.1(CC2D2A):c.1764+10C>T
|
|
|
NM_001378615.1(CC2D2A):c.1764+13A>C
|
|
|
NM_001378615.1(CC2D2A):c.1764+17T>A
|
|
|
NM_001378615.1(CC2D2A):c.1764+18C>T
|
rs1718172963
|
|
NM_001378615.1(CC2D2A):c.1765-10A>T
|
|
|
NM_001378615.1(CC2D2A):c.1765-12C>G
|
|
|
NM_001378615.1(CC2D2A):c.1765-13_1765-9del
|
|
|
NM_001378615.1(CC2D2A):c.1765-17T>G
|
|
|
NM_001378615.1(CC2D2A):c.1765-20T>C
|
rs1718218659
|
|
NM_001378615.1(CC2D2A):c.1765-24_1765-18del
|
|
|
NM_001378615.1(CC2D2A):c.1797A>G (p.Ala599=)
|
|
|
NM_001378615.1(CC2D2A):c.1812T>A (p.Gly604=)
|
|
|
NM_001378615.1(CC2D2A):c.1812T>C (p.Gly604=)
|
|
|
NM_001378615.1(CC2D2A):c.1824A>T (p.Ala608=)
|
|
|
NM_001378615.1(CC2D2A):c.1863T>A (p.Pro621=)
|
|
|
NM_001378615.1(CC2D2A):c.1866A>C (p.Pro622=)
|
rs1560171734
|
|
NM_001378615.1(CC2D2A):c.1872C>T (p.Pro624=)
|
|
|
NM_001378615.1(CC2D2A):c.1902G>A (p.Val634=)
|
rs1293349023
|
|
NM_001378615.1(CC2D2A):c.1929G>A (p.Arg643=)
|
|
|
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.1950G>A (p.Leu650=)
|
|
|
NM_001378615.1(CC2D2A):c.1953C>G (p.Val651=)
|
|
|
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)
|
rs550913315
|
|
NM_001378615.1(CC2D2A):c.1977C>T (p.Ser659=)
|
rs2109035405
|
|
NM_001378615.1(CC2D2A):c.1986C>G (p.Pro662=)
|
|
|
NM_001378615.1(CC2D2A):c.1998C>T (p.Cys666=)
|
|
|
NM_001378615.1(CC2D2A):c.2003+12C>T
|
|
|
NM_001378615.1(CC2D2A):c.2003+14C>T
|
|
|
NM_001378615.1(CC2D2A):c.2003+15C>A
|
|
|
NM_001378615.1(CC2D2A):c.2003+16G>C
|
|
|
NM_001378615.1(CC2D2A):c.2003+19C>A
|
|
|
NM_001378615.1(CC2D2A):c.2003+20G>A
|
|
|
NM_001378615.1(CC2D2A):c.2004-6T>C
|
|
|
NM_001378615.1(CC2D2A):c.2010G>A (p.Glu670=)
|
|
|
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=)
|
|
|
NM_001378615.1(CC2D2A):c.2040C>A (p.Arg680=)
|
|
|
NM_001378615.1(CC2D2A):c.2040C>G (p.Arg680=)
|
|
|
NM_001378615.1(CC2D2A):c.2049C>T (p.Tyr683=)
|
|
|
NM_001378615.1(CC2D2A):c.2058G>A (p.Val686=)
|
|
|
NM_001378615.1(CC2D2A):c.2076G>A (p.Glu692=)
|
|
|
NM_001378615.1(CC2D2A):c.2079G>A (p.Val693=)
|
rs1348040937
|
|
NM_001378615.1(CC2D2A):c.2085G>A (p.Arg695=)
|
|
|
NM_001378615.1(CC2D2A):c.2106A>G (p.Gly702=)
|
|
|
NM_001378615.1(CC2D2A):c.2115C>T (p.Phe705=)
|
|
|
NM_001378615.1(CC2D2A):c.2127T>C (p.Phe709=)
|
|
|
NM_001378615.1(CC2D2A):c.213C>A (p.Arg71=)
|
|
|
NM_001378615.1(CC2D2A):c.213C>G (p.Arg71=)
|
rs2108973641
|
|
NM_001378615.1(CC2D2A):c.2154C>T (p.Val718=)
|
|
|
NM_001378615.1(CC2D2A):c.2163G>T (p.Pro721=)
|
|
|
NM_001378615.1(CC2D2A):c.2175A>G (p.Thr725=)
|
|
|
NM_001378615.1(CC2D2A):c.2178T>G (p.Leu726=)
|
|
|
NM_001378615.1(CC2D2A):c.2181+15T>C
|
|
|
NM_001378615.1(CC2D2A):c.2181+17T>G
|
rs1016233369
|
|
NM_001378615.1(CC2D2A):c.2181+19G>A
|
|
|
NM_001378615.1(CC2D2A):c.2181+19G>T
|
|
|
NM_001378615.1(CC2D2A):c.2181+20T>C
|
|
|
NM_001378615.1(CC2D2A):c.2182-11C>T
|
|
|
NM_001378615.1(CC2D2A):c.2182-11_2182-10del
|
|
|
NM_001378615.1(CC2D2A):c.2182-4T>C
|
|
|
NM_001378615.1(CC2D2A):c.2182-8G>C
|
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
NM_001378615.1(CC2D2A):c.2187T>C (p.Tyr729=)
|
|
|
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=)
|
rs764246302
|
|
NM_001378615.1(CC2D2A):c.2253T>C (p.Thr751=)
|
|
|
NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=)
|
|
|
NM_001378615.1(CC2D2A):c.2268G>A (p.Arg756=)
|
|
|
NM_001378615.1(CC2D2A):c.2277T>C (p.Thr759=)
|
|
|
NM_001378615.1(CC2D2A):c.2322C>T (p.His774=)
|
|
|
NM_001378615.1(CC2D2A):c.2338+14A>G
|
|
|
NM_001378615.1(CC2D2A):c.2338+14del
|
rs1560178133
|
|
NM_001378615.1(CC2D2A):c.2339-10G>A
|
|
|
NM_001378615.1(CC2D2A):c.2339-12G>A
|
|
|
NM_001378615.1(CC2D2A):c.2339-12G>C
|
|
|
NM_001378615.1(CC2D2A):c.2339-4C>A
|
rs2109052944
|
|
NM_001378615.1(CC2D2A):c.2339-4_2339-3dup
|
|
|
NM_001378615.1(CC2D2A):c.2339-5C>T
|
|
|
NM_001378615.1(CC2D2A):c.2339-7del
|
|
|
NM_001378615.1(CC2D2A):c.2339-9T>C
|
|
|
NM_001378615.1(CC2D2A):c.2367C>A (p.Gly789=)
|
|
|
NM_001378615.1(CC2D2A):c.2397G>A (p.Gly799=)
|
rs1577370765
|
|
NM_001378615.1(CC2D2A):c.2403G>A (p.Val801=)
|
|
|
NM_001378615.1(CC2D2A):c.2415G>A (p.Val805=)
|
|
|
NM_001378615.1(CC2D2A):c.2445T>C (p.Pro815=)
|
|
|
NM_001378615.1(CC2D2A):c.2458T>C (p.Leu820=)
|
|
|
NM_001378615.1(CC2D2A):c.2469G>A (p.Gln823=)
|
|
|
NM_001378615.1(CC2D2A):c.247+12T>G
|
|
|
NM_001378615.1(CC2D2A):c.247+13C>T
|
|
|
NM_001378615.1(CC2D2A):c.247+18A>G
|
|
|
NM_001378615.1(CC2D2A):c.247+9C>G
|
|
|
NM_001378615.1(CC2D2A):c.2472C>T (p.Asn824=)
|
|
|
NM_001378615.1(CC2D2A):c.248-25TTTTGT[2]
|
|
|
NM_001378615.1(CC2D2A):c.248-8T>C
|
|
|
NM_001378615.1(CC2D2A):c.2482C>A (p.Arg828=)
|
|
|
NM_001378615.1(CC2D2A):c.2484G>A (p.Arg828=)
|
|
|
NM_001378615.1(CC2D2A):c.2486+13A>G
|
|
|
NM_001378615.1(CC2D2A):c.2486+17G>C
|
|
|
NM_001378615.1(CC2D2A):c.2486+9T>C
|
rs768382177
|
|
NM_001378615.1(CC2D2A):c.2487-4T>G
|
rs900632187
|
|
NM_001378615.1(CC2D2A):c.2487-8C>A
|
|
|
NM_001378615.1(CC2D2A):c.2493G>A (p.Leu831=)
|
|
|
NM_001378615.1(CC2D2A):c.2514A>G (p.Ser838=)
|
|
|
NM_001378615.1(CC2D2A):c.2523C>T (p.Gly841=)
|
|
|
NM_001378615.1(CC2D2A):c.2529A>C (p.Ser843=)
|
|
|
NM_001378615.1(CC2D2A):c.2551T>C (p.Leu851=)
|
|
|
NM_001378615.1(CC2D2A):c.2604C>A (p.Ala868=)
|
rs763477348
|
|
NM_001378615.1(CC2D2A):c.2604C>T (p.Ala868=)
|
rs763477348
|
|
NM_001378615.1(CC2D2A):c.2610G>A (p.Leu870=)
|
|
|
NM_001378615.1(CC2D2A):c.2625+12_2625+13insTCA
|
|
|
NM_001378615.1(CC2D2A):c.2625+14G>A
|
|
|
NM_001378615.1(CC2D2A):c.2625+14_2625+19del
|
|
|
NM_001378615.1(CC2D2A):c.2625+15_2625+24del
|
|
|
NM_001378615.1(CC2D2A):c.2625+19A>G
|
|
|
NM_001378615.1(CC2D2A):c.2625+19A>T
|
|
|
NM_001378615.1(CC2D2A):c.2625+7A>G
|
|
|
NM_001378615.1(CC2D2A):c.2625+9C>G
|
|
|
NM_001378615.1(CC2D2A):c.2625+9C>T
|
|
|
NM_001378615.1(CC2D2A):c.2626-18A>G
|
|
|
NM_001378615.1(CC2D2A):c.2626-4A>G
|
|
|
NM_001378615.1(CC2D2A):c.2626-6T>C
|
|
|
NM_001378615.1(CC2D2A):c.2634C>A (p.Thr878=)
|
|
|
NM_001378615.1(CC2D2A):c.2640T>C (p.Gly880=)
|
|
|
NM_001378615.1(CC2D2A):c.2649T>C (p.Tyr883=)
|
|
|
NM_001378615.1(CC2D2A):c.2670G>A (p.Leu890=)
|
|
|
NM_001378615.1(CC2D2A):c.2673G>A (p.Glu891=)
|
|
|
NM_001378615.1(CC2D2A):c.2688G>A (p.Glu896=)
|
rs2109058103
|
|
NM_001378615.1(CC2D2A):c.2718T>C (p.Asn906=)
|
|
|
NM_001378615.1(CC2D2A):c.2724C>T (p.Ser908=)
|
|
|
NM_001378615.1(CC2D2A):c.2772C>T (p.Phe924=)
|
|
|
NM_001378615.1(CC2D2A):c.2796C>T (p.Val932=)
|
|
|
NM_001378615.1(CC2D2A):c.279A>T (p.Thr93=)
|
|
|
NM_001378615.1(CC2D2A):c.2829+15T>C
|
|
|
NM_001378615.1(CC2D2A):c.2829+18del
|
|
|
NM_001378615.1(CC2D2A):c.2829+20G>T
|
|
|
NM_001378615.1(CC2D2A):c.2830-14C>T
|
|
|
NM_001378615.1(CC2D2A):c.2830-16C>A
|
|
|
NM_001378615.1(CC2D2A):c.2830-18G>T
|
|
|
NM_001378615.1(CC2D2A):c.2830-20T>C
|
|
|
NM_001378615.1(CC2D2A):c.2830-8A>T
|
|
|
NM_001378615.1(CC2D2A):c.2835T>C (p.Tyr945=)
|
rs1719439232
|
|
NM_001378615.1(CC2D2A):c.2853C>T (p.Asp951=)
|
|
|
NM_001378615.1(CC2D2A):c.2859T>C (p.Asn953=)
|
|
|
NM_001378615.1(CC2D2A):c.2871C>G (p.Thr957=)
|
|
|
NM_001378615.1(CC2D2A):c.2874G>A (p.Lys958=)
|
|
|
NM_001378615.1(CC2D2A):c.2877A>G (p.Glu959=)
|
|
|
NM_001378615.1(CC2D2A):c.2886C>T (p.Asp962=)
|
rs2109060199
|
|
NM_001378615.1(CC2D2A):c.2892T>C (p.His964=)
|
|
|
NM_001378615.1(CC2D2A):c.2895G>A (p.Arg965=)
|
|
|
NM_001378615.1(CC2D2A):c.2916C>G (p.Leu972=)
|
|
|
NM_001378615.1(CC2D2A):c.2922+13A>T
|
|
|
NM_001378615.1(CC2D2A):c.2922+14T>C
|
|
|
NM_001378615.1(CC2D2A):c.2922+17A>G
|
|
|
NM_001378615.1(CC2D2A):c.2922+20A>G
|
|
|
NM_001378615.1(CC2D2A):c.2923-10C>A
|
|
|
NM_001378615.1(CC2D2A):c.2923-12T>C
|
|
|
NM_001378615.1(CC2D2A):c.2923-13T>C
|
|
|
NM_001378615.1(CC2D2A):c.2923-3del
|
|
|
NM_001378615.1(CC2D2A):c.2923-5C>T
|
rs758867115
|
|
NM_001378615.1(CC2D2A):c.2923-6C>A
|
|
|
NM_001378615.1(CC2D2A):c.2925T>C (p.Val975=)
|
|
|
NM_001378615.1(CC2D2A):c.2928A>G (p.Arg976=)
|
|
|
NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=)
|
|
|
NM_001378615.1(CC2D2A):c.294T>C (p.Phe98=)
|
|
|
NM_001378615.1(CC2D2A):c.2961A>G (p.Lys987=)
|
|
|
NM_001378615.1(CC2D2A):c.2964A>G (p.Gln988=)
|
|
|
NM_001378615.1(CC2D2A):c.2970T>C (p.Phe990=)
|
|
|
NM_001378615.1(CC2D2A):c.2982T>C (p.Asp994=)
|
|
|
NM_001378615.1(CC2D2A):c.2991A>G (p.Val997=)
|
rs2109061736
|
|
NM_001378615.1(CC2D2A):c.3014+10A>C
|
|
|
NM_001378615.1(CC2D2A):c.3014+10del
|
|
|
NM_001378615.1(CC2D2A):c.3014+11_3014+14del
|
rs1181395692
|
|
NM_001378615.1(CC2D2A):c.3014+16G>A
|
|
|
NM_001378615.1(CC2D2A):c.3014+18_3014+21del
|
|
|
NM_001378615.1(CC2D2A):c.3014+19A>T
|
|
|
NM_001378615.1(CC2D2A):c.3014+20T>C
|
|
|
NM_001378615.1(CC2D2A):c.3014+24_3014+26del
|
rs780647289
|
|
NM_001378615.1(CC2D2A):c.3014+8T>C
|
rs1410013441
|
|
NM_001378615.1(CC2D2A):c.3015-14T>C
|
|
|
NM_001378615.1(CC2D2A):c.3015-19C>G
|
|
|
NM_001378615.1(CC2D2A):c.3015-5A>G
|
|
|
NM_001378615.1(CC2D2A):c.3064C>A (p.Arg1022=)
|
|
|
NM_001378615.1(CC2D2A):c.3066G>A (p.Arg1022=)
|
rs2109065234
|
|
NM_001378615.1(CC2D2A):c.3075A>G (p.Arg1025=)
|
|
|
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.3147A>G (p.Arg1049=)
|
|
|
NM_001378615.1(CC2D2A):c.315G>A (p.Arg105=)
|
|
|
NM_001378615.1(CC2D2A):c.3177A>G (p.Ala1059=)
|
|
|
NM_001378615.1(CC2D2A):c.3180G>A (p.Val1060=)
|
|
|
NM_001378615.1(CC2D2A):c.3182+10C>T
|
|
|
NM_001378615.1(CC2D2A):c.3182+13C>A
|
|
|
NM_001378615.1(CC2D2A):c.3183-12T>G
|
|
|
NM_001378615.1(CC2D2A):c.3183-20T>G
|
|
|
NM_001378615.1(CC2D2A):c.3183-5C>A
|
|
|
NM_001378615.1(CC2D2A):c.3183-5C>G
|
|
|
NM_001378615.1(CC2D2A):c.3207T>G (p.Ser1069=)
|
|
|
NM_001378615.1(CC2D2A):c.3213G>A (p.Arg1071=)
|
rs2109070172
|
|
NM_001378615.1(CC2D2A):c.322T>C (p.Leu108=)
|
|
|
NM_001378615.1(CC2D2A):c.3267T>C (p.Asn1089=)
|
|
|
NM_001378615.1(CC2D2A):c.3276C>T (p.Tyr1092=)
|
|
|
NM_001378615.1(CC2D2A):c.3279C>T (p.Pro1093=)
|
rs1302080963
|
|
NM_001378615.1(CC2D2A):c.3282C>G (p.Leu1094=)
|
|
|
NM_001378615.1(CC2D2A):c.3288+12T>A
|
|
|
NM_001378615.1(CC2D2A):c.3288+12T>C
|
|
|
NM_001378615.1(CC2D2A):c.3288+16C>A
|
|
|
NM_001378615.1(CC2D2A):c.3288+9T>C
|
|
|
NM_001378615.1(CC2D2A):c.3289-15G>C
|
rs2109070538
|
|
NM_001378615.1(CC2D2A):c.3303C>G (p.Pro1101=)
|
|
|
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)
|
rs753770061
|
|
NM_001378615.1(CC2D2A):c.3336C>T (p.Cys1112=)
|
|
|
NM_001378615.1(CC2D2A):c.3342G>A (p.Thr1114=)
|
|
|
NM_001378615.1(CC2D2A):c.334A>C (p.Arg112=)
|
rs2108998391
|
|
NM_001378615.1(CC2D2A):c.336+14C>T
|
|
|
NM_001378615.1(CC2D2A):c.336+15A>G
|
rs2108998411
|
|
NM_001378615.1(CC2D2A):c.336+17G>A
|
|
|
NM_001378615.1(CC2D2A):c.336+19A>G
|
|
|
NM_001378615.1(CC2D2A):c.336+20T>C
|
|
|
NM_001378615.1(CC2D2A):c.336+3GA[2]
|
|
|
NM_001378615.1(CC2D2A):c.3360A>G (p.Pro1120=)
|
rs2109070685
|
|
NM_001378615.1(CC2D2A):c.3369C>T (p.Ser1123=)
|
|
|
NM_001378615.1(CC2D2A):c.337-12T>C
|
|
|
NM_001378615.1(CC2D2A):c.337-14G>T
|
|
|
NM_001378615.1(CC2D2A):c.337-18T>C
|
|
|
NM_001378615.1(CC2D2A):c.337-7T>C
|
|
|
NM_001378615.1(CC2D2A):c.3398+18T>C
|
|
|
NM_001378615.1(CC2D2A):c.3398+19T>C
|
|
|
NM_001378615.1(CC2D2A):c.3398+7A>T
|
|
|
NM_001378615.1(CC2D2A):c.3398+7del
|
|
|
NM_001378615.1(CC2D2A):c.3398+9A>G
|
|
|
NM_001378615.1(CC2D2A):c.3399-12G>A
|
|
|
NM_001378615.1(CC2D2A):c.3399-12G>C
|
|
|
NM_001378615.1(CC2D2A):c.3399-14G>A
|
|
|
NM_001378615.1(CC2D2A):c.3405T>C (p.Pro1135=)
|
|
|
NM_001378615.1(CC2D2A):c.3426C>T (p.Ala1142=)
|
|
|
NM_001378615.1(CC2D2A):c.3447T>C (p.Asp1149=)
|
|
|
NM_001378615.1(CC2D2A):c.3453G>A (p.Val1151=)
|
|
|
NM_001378615.1(CC2D2A):c.3456C>T (p.Phe1152=)
|
rs2109072690
|
|
NM_001378615.1(CC2D2A):c.3465T>A (p.Ile1155=)
|
|
|
NM_001378615.1(CC2D2A):c.3471T>C (p.Asp1157=)
|
|
|
NM_001378615.1(CC2D2A):c.3478C>T (p.Leu1160=)
|
rs776074900
|
|
NM_001378615.1(CC2D2A):c.3480G>A (p.Leu1160=)
|
|
|
NM_001378615.1(CC2D2A):c.3486T>C (p.Asp1162=)
|
|
|
NM_001378615.1(CC2D2A):c.348A>G (p.Glu116=)
|
|
|
NM_001378615.1(CC2D2A):c.3490T>C (p.Leu1164=)
|
|
|
NM_001378615.1(CC2D2A):c.3495+11A>C
|
|
|
NM_001378615.1(CC2D2A):c.3495+11A>G
|
rs2109072768
|
|
NM_001378615.1(CC2D2A):c.3495+12G>C
|
|
|
NM_001378615.1(CC2D2A):c.3495+15T>C
|
|
|
NM_001378615.1(CC2D2A):c.3495+20A>G
|
|
|
NM_001378615.1(CC2D2A):c.3496-11C>A
|
|
|
NM_001378615.1(CC2D2A):c.3496-11C>G
|
|
|
NM_001378615.1(CC2D2A):c.3496-14C>T
|
|
|
NM_001378615.1(CC2D2A):c.3496-15C>T
|
|
|
NM_001378615.1(CC2D2A):c.3496-18T>C
|
|
|
NM_001378615.1(CC2D2A):c.3496-19C>T
|
|
|
NM_001378615.1(CC2D2A):c.3496-20A>G
|
rs1720099977
|
|
NM_001378615.1(CC2D2A):c.3496-7C>T
|
|
|
NM_001378615.1(CC2D2A):c.3496-8del
|
|
|
NM_001378615.1(CC2D2A):c.3519A>T (p.Gly1173=)
|
rs2109073915
|
|
NM_001378615.1(CC2D2A):c.354A>G (p.Ala118=)
|
|
|
NM_001378615.1(CC2D2A):c.354A>T (p.Ala118=)
|
|
|
NM_001378615.1(CC2D2A):c.3567A>G (p.Pro1189=)
|
rs1553841140
|
|
NM_001378615.1(CC2D2A):c.3576A>G (p.Thr1192=)
|
rs953629205
|
|
NM_001378615.1(CC2D2A):c.357G>A (p.Leu119=)
|
|
|
NM_001378615.1(CC2D2A):c.3585C>T (p.Phe1195=)
|
|
|
NM_001378615.1(CC2D2A):c.3594+11A>G
|
|
|
NM_001378615.1(CC2D2A):c.3594+14G>A
|
|
|
NM_001378615.1(CC2D2A):c.3594+9C>G
|
|
|
NM_001378615.1(CC2D2A):c.3595-12T>C
|
|
|
NM_001378615.1(CC2D2A):c.3595-13A>G
|
|
|
NM_001378615.1(CC2D2A):c.3595-15A>G
|
|
|
NM_001378615.1(CC2D2A):c.3595-15A>T
|
|
|
NM_001378615.1(CC2D2A):c.3595-4A>T
|
|
|
NM_001378615.1(CC2D2A):c.3595-5C>G
|
|
|
NM_001378615.1(CC2D2A):c.363G>A (p.Gln121=)
|
|
|
NM_001378615.1(CC2D2A):c.3648G>A (p.Lys1216=)
|
|
|
NM_001378615.1(CC2D2A):c.3653G>A (p.Arg1218Gln)
|
|
|
NM_001378615.1(CC2D2A):c.3672G>A (p.Arg1224=)
|
|
|
NM_001378615.1(CC2D2A):c.3684T>C (p.Ser1228=)
|
|
|
NM_001378615.1(CC2D2A):c.369C>A (p.Ile123=)
|
|
|
NM_001378615.1(CC2D2A):c.3711C>T (p.Tyr1237=)
|
|
|
NM_001378615.1(CC2D2A):c.3717C>G (p.Thr1239=)
|
|
|
NM_001378615.1(CC2D2A):c.3732T>C (p.Ile1244=)
|
|
|
NM_001378615.1(CC2D2A):c.3744G>A (p.Leu1248=)
|
|
|
NM_001378615.1(CC2D2A):c.3771+12T>C
|
|
|
NM_001378615.1(CC2D2A):c.3771+13A>G
|
|
|
NM_001378615.1(CC2D2A):c.3771+16T>G
|
|
|
NM_001378615.1(CC2D2A):c.3771+7A>C
|
|
|
NM_001378615.1(CC2D2A):c.3771+8C>T
|
|
|
NM_001378615.1(CC2D2A):c.3772-10C>T
|
|
|
NM_001378615.1(CC2D2A):c.3772-11dup
|
|
|
NM_001378615.1(CC2D2A):c.3772-14C>T
|
|
|
NM_001378615.1(CC2D2A):c.3772-16G>A
|
|
|
NM_001378615.1(CC2D2A):c.3772-7T>C
|
rs2109083258
|
|
NM_001378615.1(CC2D2A):c.3777G>A (p.Glu1259=)
|
|
|
NM_001378615.1(CC2D2A):c.3780T>A (p.Ser1260=)
|
|
|
NM_001378615.1(CC2D2A):c.3783G>A (p.Gln1261=)
|
|
|
NM_001378615.1(CC2D2A):c.3789T>C (p.Asp1263=)
|
|
|
NM_001378615.1(CC2D2A):c.3810T>A (p.Thr1270=)
|
|
|
NM_001378615.1(CC2D2A):c.3834C>G (p.Ala1278=)
|
rs751897663
|
|
NM_001378615.1(CC2D2A):c.3834C>T (p.Ala1278=)
|
|
|
NM_001378615.1(CC2D2A):c.3837A>G (p.Leu1279=)
|
rs1560192604
|
|
NM_001378615.1(CC2D2A):c.3861T>G (p.Leu1287=)
|
|
|
NM_001378615.1(CC2D2A):c.3870A>G (p.Val1290=)
|
|
|
NM_001378615.1(CC2D2A):c.3873T>C (p.Ile1291=)
|
|
|
NM_001378615.1(CC2D2A):c.3882C>T (p.Ser1294=)
|
|
|
NM_001378615.1(CC2D2A):c.3885A>G (p.Gly1295=)
|
|
|
NM_001378615.1(CC2D2A):c.3891T>G (p.Thr1297=)
|
|
|
NM_001378615.1(CC2D2A):c.39+10C>A
|
|
|
NM_001378615.1(CC2D2A):c.39+16G>C
|
|
|
NM_001378615.1(CC2D2A):c.39+20T>C
|
|
|
NM_001378615.1(CC2D2A):c.3900C>T (p.Ile1300=)
|
rs2109083429
|
|
NM_001378615.1(CC2D2A):c.390C>T (p.Arg130=)
|
|
|
NM_001378615.1(CC2D2A):c.3919T>C (p.Leu1307=)
|
|
|
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
|
|
|
NM_001378615.1(CC2D2A):c.3927T>G (p.Pro1309=)
|
|
|
NM_001378615.1(CC2D2A):c.3936G>A (p.Glu1312=)
|
|
|
NM_001378615.1(CC2D2A):c.394C>A (p.Arg132=)
|
|
|
NM_001378615.1(CC2D2A):c.3957T>C (p.Asn1319=)
|
rs2109083467
|
|
NM_001378615.1(CC2D2A):c.3975+11C>A
|
|
|
NM_001378615.1(CC2D2A):c.3975+12A>G
|
|
|
NM_001378615.1(CC2D2A):c.3975+17C>G
|
rs2109083516
|
|
NM_001378615.1(CC2D2A):c.3975+19del
|
|
|
NM_001378615.1(CC2D2A):c.3975+19dup
|
|
|
NM_001378615.1(CC2D2A):c.3975+8T>C
|
|
|
NM_001378615.1(CC2D2A):c.3976-14T>C
|
|
|
NM_001378615.1(CC2D2A):c.3976-5T>C
|
|
|
NM_001378615.1(CC2D2A):c.3984G>A (p.Val1328=)
|
|
|
NM_001378615.1(CC2D2A):c.3993T>C (p.Tyr1331=)
|
|
|
NM_001378615.1(CC2D2A):c.40-13C>T
|
|
|
NM_001378615.1(CC2D2A):c.40-18T>G
|
|
|
NM_001378615.1(CC2D2A):c.4014G>A (p.Leu1338=)
|
|
|
NM_001378615.1(CC2D2A):c.4023T>C (p.Thr1341=)
|
|
|
NM_001378615.1(CC2D2A):c.4050C>G (p.Leu1350=)
|
|
|
NM_001378615.1(CC2D2A):c.4059A>G (p.Thr1353=)
|
|
|
NM_001378615.1(CC2D2A):c.4065+10_4065+11delinsAG
|
rs2109088612
|
|
NM_001378615.1(CC2D2A):c.4065+11C>T
|
|
|
NM_001378615.1(CC2D2A):c.4065+12T>G
|
|
|
NM_001378615.1(CC2D2A):c.4065+18A>G
|
|
|
NM_001378615.1(CC2D2A):c.4065+8G>A
|
|
|
NM_001378615.1(CC2D2A):c.4065+9TTC[2]
|
rs755600533
|
|
NM_001378615.1(CC2D2A):c.4066-10T>C
|
|
|
NM_001378615.1(CC2D2A):c.4066-11C>A
|
rs1412529846
|
|
NM_001378615.1(CC2D2A):c.4066-11_4066-10del
|
|
|
NM_001378615.1(CC2D2A):c.4066-16T>G
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>A
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>C
|
|
|
NM_001378615.1(CC2D2A):c.4066-20T>G
|
rs1174030292
|
|
NM_001378615.1(CC2D2A):c.408G>A (p.Lys136=)
|
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
NM_001378615.1(CC2D2A):c.4104T>C (p.His1368=)
|
|
|
NM_001378615.1(CC2D2A):c.4111C>T (p.Leu1371=)
|
|
|
NM_001378615.1(CC2D2A):c.4114T>C (p.Leu1372=)
|
|
|
NM_001378615.1(CC2D2A):c.4125C>T (p.Tyr1375=)
|
|
|
NM_001378615.1(CC2D2A):c.4128T>C (p.Phe1376=)
|
|
|
NM_001378615.1(CC2D2A):c.4149C>G (p.Ala1383=)
|
|
|
NM_001378615.1(CC2D2A):c.4179+12T>C
|
|
|
NM_001378615.1(CC2D2A):c.4179+17T>C
|
|
|
NM_001378615.1(CC2D2A):c.4179+19C>G
|
|
|
NM_001378615.1(CC2D2A):c.4179+8C>A
|
rs2109090417
|
|
NM_001378615.1(CC2D2A):c.4179+8C>T
|
|
|
NM_001378615.1(CC2D2A):c.4180-20T>C
|
|
|
NM_001378615.1(CC2D2A):c.4191C>G (p.Ala1397=)
|
|
|
NM_001378615.1(CC2D2A):c.4203T>G (p.Thr1401=)
|
|
|
NM_001378615.1(CC2D2A):c.4209G>A (p.Glu1403=)
|
|
|
NM_001378615.1(CC2D2A):c.4221T>C (p.Tyr1407=)
|
|
|
NM_001378615.1(CC2D2A):c.4222T>C (p.Leu1408=)
|
|
|
NM_001378615.1(CC2D2A):c.4248T>C (p.His1416=)
|
|
|
NM_001378615.1(CC2D2A):c.4254T>C (p.Tyr1418=)
|
|
|
NM_001378615.1(CC2D2A):c.4287T>C (p.Asn1429=)
|
|
|
NM_001378615.1(CC2D2A):c.4290G>A (p.Val1430=)
|
|
|
NM_001378615.1(CC2D2A):c.429T>C (p.Phe143=)
|
|
|
NM_001378615.1(CC2D2A):c.4305T>A (p.Gly1435=)
|
rs1721005215
|
|
NM_001378615.1(CC2D2A):c.4314+13A>G
|
|
|
NM_001378615.1(CC2D2A):c.4314+7A>G
|
|
|
NM_001378615.1(CC2D2A):c.4315-15T>C
|
|
|
NM_001378615.1(CC2D2A):c.4315-16G>A
|
|
|
NM_001378615.1(CC2D2A):c.4315-19G>A
|
|
|
NM_001378615.1(CC2D2A):c.4315-7T>G
|
|
|
NM_001378615.1(CC2D2A):c.432C>G (p.Gly144=)
|
|
|
NM_001378615.1(CC2D2A):c.4335A>G (p.Arg1445=)
|
|
|
NM_001378615.1(CC2D2A):c.4351A>C (p.Arg1451=)
|
|
|
NM_001378615.1(CC2D2A):c.438+12C>T
|
|
|
NM_001378615.1(CC2D2A):c.438+15_438+18del
|
rs1716044858
|
|
NM_001378615.1(CC2D2A):c.438+20C>T
|
|
|
NM_001378615.1(CC2D2A):c.439-13T>C
|
|
|
NM_001378615.1(CC2D2A):c.439-16T>C
|
|
|
NM_001378615.1(CC2D2A):c.439-20del
|
|
|
NM_001378615.1(CC2D2A):c.439-5T>C
|
|
|
NM_001378615.1(CC2D2A):c.439-6A>C
|
|
|
NM_001378615.1(CC2D2A):c.439-8T>A
|
|
|
NM_001378615.1(CC2D2A):c.439-8T>G
|
|
|
NM_001378615.1(CC2D2A):c.439-9C>T
|
rs747673081
|
|
NM_001378615.1(CC2D2A):c.4407C>T (p.Ser1469=)
|
|
|
NM_001378615.1(CC2D2A):c.4419T>C (p.Pro1473=)
|
|
|
NM_001378615.1(CC2D2A):c.441A>G (p.Pro147=)
|
|
|
NM_001378615.1(CC2D2A):c.4425T>C (p.Leu1475=)
|
|
|
NM_001378615.1(CC2D2A):c.4428C>T (p.Ser1476=)
|
|
|
NM_001378615.1(CC2D2A):c.4434T>A (p.Val1478=)
|
|
|
NM_001378615.1(CC2D2A):c.4437+12T>C
|
|
|
NM_001378615.1(CC2D2A):c.4437+13T>C
|
|
|
NM_001378615.1(CC2D2A):c.4437+7del
|
|
|
NM_001378615.1(CC2D2A):c.4437+8T>A
|
|
|
NM_001378615.1(CC2D2A):c.4438-18C>A
|
|
|
NM_001378615.1(CC2D2A):c.4438-20A>T
|
|
|
NM_001378615.1(CC2D2A):c.4438-5T>C
|
|
|
NM_001378615.1(CC2D2A):c.4464A>T (p.Ser1488=)
|
|
|
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=)
|
rs863225179
|
|
NM_001378615.1(CC2D2A):c.4494C>T (p.Asp1498=)
|
|
|
NM_001378615.1(CC2D2A):c.4496+15A>G
|
|
|
NM_001378615.1(CC2D2A):c.4496+16T>C
|
|
|
NM_001378615.1(CC2D2A):c.4496+20T>G
|
|
|
NM_001378615.1(CC2D2A):c.4496+7T>C
|
rs1721369727
|
|
NM_001378615.1(CC2D2A):c.4497-15A>C
|
|
|
NM_001378615.1(CC2D2A):c.4497-15_4497-14del
|
rs2148495845
|
|
NM_001378615.1(CC2D2A):c.4497-19del
|
|
|
NM_001378615.1(CC2D2A):c.4497-6G>T
|
|
|
NM_001378615.1(CC2D2A):c.4497-9T>C
|
|
|
NM_001378615.1(CC2D2A):c.4536G>A (p.Arg1512=)
|
|
|
NM_001378615.1(CC2D2A):c.453A>G (p.Val151=)
|
|
|
NM_001378615.1(CC2D2A):c.4542C>A (p.Arg1514=)
|
|
|
NM_001378615.1(CC2D2A):c.4545T>C (p.His1515=)
|
|
|
NM_001378615.1(CC2D2A):c.4554G>C (p.Arg1518=)
|
rs755691801
|
|
NM_001378615.1(CC2D2A):c.4569T>C (p.Cys1523=)
|
|
|
NM_001378615.1(CC2D2A):c.4602A>G (p.Leu1534=)
|
|
|
NM_001378615.1(CC2D2A):c.4632T>C (p.Asp1544=)
|
|
|
NM_001378615.1(CC2D2A):c.465A>G (p.Gln155=)
|
|
|
NM_001378615.1(CC2D2A):c.4672A>C (p.Arg1558=)
|
|
|
NM_001378615.1(CC2D2A):c.4674+12A>G
|
rs2148496063
|
|
NM_001378615.1(CC2D2A):c.4674+19C>G
|
|
|
NM_001378615.1(CC2D2A):c.4675-10T>A
|
rs2148497339
|
|
NM_001378615.1(CC2D2A):c.4675-11T>C
|
rs1242070238
|
|
NM_001378615.1(CC2D2A):c.4675-13T>C
|
|
|
NM_001378615.1(CC2D2A):c.4675-19A>G
|
|
|
NM_001378615.1(CC2D2A):c.4704T>C (p.Tyr1568=)
|
|
|
NM_001378615.1(CC2D2A):c.4725T>C (p.Ile1575=)
|
|
|
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
|
rs774919996
|
|
NM_001378615.1(CC2D2A):c.4731T>C (p.Ala1577=)
|
|
|
NM_001378615.1(CC2D2A):c.4740T>C (p.Ser1580=)
|
rs759221177
|
|
NM_001378615.1(CC2D2A):c.4746A>C (p.Gly1582=)
|
rs2148497436
|
|
NM_001378615.1(CC2D2A):c.4752T>C (p.His1584=)
|
|
|
NM_001378615.1(CC2D2A):c.4767T>C (p.Pro1589=)
|
|
|
NM_001378615.1(CC2D2A):c.4773T>C (p.Val1591=)
|
|
|
NM_001378615.1(CC2D2A):c.477C>T (p.Asp159=)
|
|
|
NM_001378615.1(CC2D2A):c.4811A>G (p.Lys1604Arg)
|
|
|
NM_001378615.1(CC2D2A):c.4819T>C (p.Leu1607=)
|
rs1197953378
|
|
NM_001378615.1(CC2D2A):c.4836T>C (p.Tyr1612=)
|
|
|
NM_001378615.1(CC2D2A):c.4848T>C (p.Leu1616=)
|
rs1396115620
|
|
NM_001378615.1(CC2D2A):c.4848T>G (p.Leu1616=)
|
|
|
NM_001378615.1(CC2D2A):c.4854C>A (p.Arg1618=)
|
|
|
NM_001378615.1(CC2D2A):c.4863A>G (p.Ter1621=)
|
|
|
NM_001378615.1(CC2D2A):c.48T>C (p.Ile16=)
|
|
|
NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=)
|
|
|
NM_001378615.1(CC2D2A):c.501G>A (p.Lys167=)
|
|
|
NM_001378615.1(CC2D2A):c.507T>C (p.His169=)
|
|
|
NM_001378615.1(CC2D2A):c.540+10C>G
|
|
|
NM_001378615.1(CC2D2A):c.540+13G>T
|
|
|
NM_001378615.1(CC2D2A):c.540+17T>C
|
|
|
NM_001378615.1(CC2D2A):c.540+18T>C
|
|
|
NM_001378615.1(CC2D2A):c.540+20A>G
|
|
|
NM_001378615.1(CC2D2A):c.541-11C>G
|
|
|
NM_001378615.1(CC2D2A):c.541-12G>A
|
|
|
NM_001378615.1(CC2D2A):c.541-16C>T
|
|
|
NM_001378615.1(CC2D2A):c.541-18C>T
|
|
|
NM_001378615.1(CC2D2A):c.541-5G>T
|
|
|
NM_001378615.1(CC2D2A):c.543T>A (p.Val181=)
|
|
|
NM_001378615.1(CC2D2A):c.54T>C (p.Asn18=)
|
|
|
NM_001378615.1(CC2D2A):c.551G>C (p.Gly184Ala)
|
|
|
NM_001378615.1(CC2D2A):c.552C>A (p.Gly184=)
|
|
|
NM_001378615.1(CC2D2A):c.555C>T (p.Phe185=)
|
|
|
NM_001378615.1(CC2D2A):c.558T>C (p.Pro186=)
|
|
|
NM_001378615.1(CC2D2A):c.609A>G (p.Pro203=)
|
|
|
NM_001378615.1(CC2D2A):c.612A>G (p.Glu204=)
|
|
|
NM_001378615.1(CC2D2A):c.615A>T (p.Gly205=)
|
|
|
NM_001378615.1(CC2D2A):c.618A>C (p.Ser206=)
|
|
|
NM_001378615.1(CC2D2A):c.630A>G (p.Pro210=)
|
|
|
NM_001378615.1(CC2D2A):c.639A>G (p.Arg213=)
|
rs750290771
|
|
NM_001378615.1(CC2D2A):c.63T>C (p.Asp21=)
|
rs1714407530
|
|
NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=)
|
|
|
NM_001378615.1(CC2D2A):c.693T>G (p.Pro231=)
|
|
|
NM_001378615.1(CC2D2A):c.717+12C>G
|
|
|
NM_001378615.1(CC2D2A):c.717+12C>T
|
rs776829032
|
|
NM_001378615.1(CC2D2A):c.717+13A>G
|
rs2109007872
|
|
NM_001378615.1(CC2D2A):c.717+15G>A
|
|
|
NM_001378615.1(CC2D2A):c.717+18G>A
|
|
|
NM_001378615.1(CC2D2A):c.717+19G>A
|
|
|
NM_001378615.1(CC2D2A):c.718-12A>G
|
|
|
NM_001378615.1(CC2D2A):c.718-18C>T
|
|
|
NM_001378615.1(CC2D2A):c.718-19A>G
|
|
|
NM_001378615.1(CC2D2A):c.718-20T>C
|
|
|
NM_001378615.1(CC2D2A):c.718-4G>A
|
|
|
NM_001378615.1(CC2D2A):c.718-5T>C
|
rs1004108988
|
|
NM_001378615.1(CC2D2A):c.718-9A>G
|
|
|
NM_001378615.1(CC2D2A):c.726A>G (p.Glu242=)
|
|
|
NM_001378615.1(CC2D2A):c.729A>G (p.Glu243=)
|
|
|
NM_001378615.1(CC2D2A):c.747T>C (p.Asp249=)
|
|
|
NM_001378615.1(CC2D2A):c.750C>A (p.Ala250=)
|
|
|
NM_001378615.1(CC2D2A):c.750C>G (p.Ala250=)
|
|
|
NM_001378615.1(CC2D2A):c.750C>T (p.Ala250=)
|
|
|
NM_001378615.1(CC2D2A):c.762A>C (p.Leu254=)
|
|
|
NM_001378615.1(CC2D2A):c.765G>A (p.Leu255=)
|
|
|
NM_001378615.1(CC2D2A):c.816T>C (p.Tyr272=)
|
rs2109011659
|
|
NM_001378615.1(CC2D2A):c.834G>A (p.Arg278=)
|
|
|
NM_001378615.1(CC2D2A):c.840G>A (p.Gln280=)
|
|
|
NM_001378615.1(CC2D2A):c.873G>A (p.Arg291=)
|
|
|
NM_001378615.1(CC2D2A):c.876G>A (p.Gln292=)
|
|
|
NM_001378615.1(CC2D2A):c.880+16A>G
|
|
|
NM_001378615.1(CC2D2A):c.881-14del
|
|
|
NM_001378615.1(CC2D2A):c.881-15T>G
|
|
|
NM_001378615.1(CC2D2A):c.881-5T>A
|
|
|
NM_001378615.1(CC2D2A):c.881-6A>G
|
|
|
NM_001378615.1(CC2D2A):c.881-7G>A
|
|
|
NM_001378615.1(CC2D2A):c.881-7G>T
|
|
|
NM_001378615.1(CC2D2A):c.882C>T (p.Val294=)
|
|
|
NM_001378615.1(CC2D2A):c.888A>G (p.Thr296=)
|
rs1716838439
|
|
NM_001378615.1(CC2D2A):c.90C>T (p.Asn30=)
|
|
|
NM_001378615.1(CC2D2A):c.933T>C (p.Asp311=)
|
|
|
NM_001378615.1(CC2D2A):c.948C>A (p.Thr316=)
|
rs201439700
|
|
NM_001378615.1(CC2D2A):c.951G>A (p.Gly317=)
|
rs762984980
|
|
NM_001378615.1(CC2D2A):c.963G>A (p.Glu321=)
|
rs1207496034
|
|
NM_001382391.1(CSPP1):c.-10-13T>A
|
|
|
NM_001382391.1(CSPP1):c.-10-20A>G
|
|
|
NM_001382391.1(CSPP1):c.-10-5T>A
|
rs770289522
|
|
NM_001382391.1(CSPP1):c.-103C>T
|
rs202181896
|
|
NM_001382391.1(CSPP1):c.-106C>T
|
rs2129538421
|
|
NM_001382391.1(CSPP1):c.-121A>C
|
|
|
NM_001382391.1(CSPP1):c.-139G>C
|
|
|
NM_001382391.1(CSPP1):c.-36C>T
|
|
|
NM_001382391.1(CSPP1):c.-43A>C
|
|
|
NM_001382391.1(CSPP1):c.-45_-42del
|
rs762530713
|
|
NM_001382391.1(CSPP1):c.-73G>C
|
|
|
NM_001382391.1(CSPP1):c.-85T>C
|
rs2129538434
|
|
NM_001382391.1(CSPP1):c.-91G>A
|
rs200332502
|
|
NM_001382391.1(CSPP1):c.-94A>G
|
rs1382795214
|
|
NM_001382391.1(CSPP1):c.100-11G>A
|
|
|
NM_001382391.1(CSPP1):c.100-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1023-14C>T
|
|
|
NM_001382391.1(CSPP1):c.1023-16G>A
|
|
|
NM_001382391.1(CSPP1):c.1023-16_1023-13del
|
|
|
NM_001382391.1(CSPP1):c.1023-4T>G
|
|
|
NM_001382391.1(CSPP1):c.1023-9T>A
|
|
|
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
|
|
|
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
|
|
|
NM_001382391.1(CSPP1):c.1093+16C>A
|
|
|
NM_001382391.1(CSPP1):c.1093+16C>G
|
|
|
NM_001382391.1(CSPP1):c.1093+17del
|
rs2129547787
|
|
NM_001382391.1(CSPP1):c.1094-6A>G
|
|
|
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
|
|
|
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=)
|
rs566786304
|
|
NM_001382391.1(CSPP1):c.1187+19T>A
|
|
|
NM_001382391.1(CSPP1):c.1187+7A>G
|
|
|
NM_001382391.1(CSPP1):c.1188-15T>G
|
|
|
NM_001382391.1(CSPP1):c.1188-20A>C
|
|
|
NM_001382391.1(CSPP1):c.1188-5T>A
|
|
|
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
|
|
|
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=)
|
rs775044108
|
|
NM_001382391.1(CSPP1):c.1245+14del
|
rs760948267
|
|
NM_001382391.1(CSPP1):c.1245+22_1245+36del
|
rs754206451
|
|
NM_001382391.1(CSPP1):c.1245+7G>A
|
|
|
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=)
|
rs1283210787
|
|
NM_001382391.1(CSPP1):c.1288-11_1288-8del
|
|
|
NM_001382391.1(CSPP1):c.1288-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1288-12del
|
|
|
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
|
|
|
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=)
|
rs1817847996
|
|
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
|
|
|
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
|
|
|
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
|
|
|
NM_001382391.1(CSPP1):c.1497-6A>G
|
|
|
NM_001382391.1(CSPP1):c.1497-8T>C
|
|
|
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=)
|
rs2129551348
|
|
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
|
|
|
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=)
|
rs1818326006
|
|
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=)
|
rs2129551359
|
|
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
|
|
|
NM_001382391.1(CSPP1):c.1618+12A>G
|
rs368578567
|
|
NM_001382391.1(CSPP1):c.1618+15G>T
|
|
|
NM_001382391.1(CSPP1):c.1618+20A>C
|
rs756484052
|
|
NM_001382391.1(CSPP1):c.1618+8A>G
|
|
|
NM_001382391.1(CSPP1):c.1619-13T>C
|
|
|
NM_001382391.1(CSPP1):c.1619-8T>C
|
rs2129551458
|
|
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
|
|
|
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=)
|
rs1470629361
|
|
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
|
|
|
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
|
|
|
NM_001382391.1(CSPP1):c.1698-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1698-13_1698-12del
|
|
|
NM_001382391.1(CSPP1):c.1698-4G>C
|
|
|
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
|
|
|
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
|
|
|
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
|
|
|
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
|
|
|
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
|
|
|
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=)
|
rs1036498137
|
|
NM_001382391.1(CSPP1):c.1828-11A>G
|
|
|
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=)
|
rs1822589349
|
|
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=)
|
rs561521861
|
|
NM_001382391.1(CSPP1):c.1975+18A>C
|
|
|
NM_001382391.1(CSPP1):c.1976-20G>A
|
|
|
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
|
|
|
NM_001382391.1(CSPP1):c.199+14T>A
|
rs2129541674
|
|
NM_001382391.1(CSPP1):c.200-13_200-11del
|
rs766452341
|
|
NM_001382391.1(CSPP1):c.200-13del
|
|
|
NM_001382391.1(CSPP1):c.200-18_200-16del
|
|
|
NM_001382391.1(CSPP1):c.200-5T>C
|
|
|
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
|
|
|
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
|
|
|
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=)
|
rs2129558010
|
|
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
|
|
|
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
|
|
|
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=)
|
rs1375950004
|
|
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
|
|
|
NM_001382391.1(CSPP1):c.2128+11A>C
|
|
|
NM_001382391.1(CSPP1):c.2128+23_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+24_2128+36del
|
|
|
NM_001382391.1(CSPP1):c.2128+7_2128+25del
|
rs2129558020
|
|
NM_001382391.1(CSPP1):c.2129-4C>G
|
|
|
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=)
|
rs887024306
|
|
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
|
|
|
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=)
|
rs1826220671
|
|
NM_001382391.1(CSPP1):c.2241+15G>A
|
|
|
NM_001382391.1(CSPP1):c.2241+19A>C
|
|
|
NM_001382391.1(CSPP1):c.2241+20_2241+25del
|
rs2129559087
|
|
NM_001382391.1(CSPP1):c.2242-13T>C
|
|
|
NM_001382391.1(CSPP1):c.2242-18_2242-15del
|
rs747115433
|
|
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
|
|
|
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
|
|
|
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=)
|
rs2129560136
|
|
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=)
|
rs1827105533
|
|
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=)
|
rs2129560142
|
|
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=)
|
rs2129560155
|
|
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=)
|
rs754878483
|
|
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
|
|
|
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
|
|
|
NM_001382391.1(CSPP1):c.2392-12T>G
|
rs1322610870
|
|
NM_001382391.1(CSPP1):c.2392-17_2392-12del
|
rs763447128
|
|
NM_001382391.1(CSPP1):c.2392-8T>C
|
|
|
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=)
|
rs1209655756
|
|
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=)
|
rs1312436989
|
|
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
|
|
|
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
|
|
|
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
|
|
|
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
|
|
|
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
|
|
|
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
|
|
|
NM_001382391.1(CSPP1):c.2538+13C>A
|
|
|
NM_001382391.1(CSPP1):c.2538+18A>G
|
|
|
NM_001382391.1(CSPP1):c.2538+19T>C
|
|
|
NM_001382391.1(CSPP1):c.2538+20G>A
|
|
|
NM_001382391.1(CSPP1):c.2539-13_2539-4del
|
rs753606187
|
|
NM_001382391.1(CSPP1):c.2539-8T>A
|
|
|
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
|
|
|
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
|
|
|
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
|
|
|
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
|
|
|
NM_001382391.1(CSPP1):c.2643+11T>C
|
|
|
NM_001382391.1(CSPP1):c.2643+16T>A
|
|
|
NM_001382391.1(CSPP1):c.2644-11T>C
|
|
|
NM_001382391.1(CSPP1):c.2644-12A>G
|
rs2129562431
|
|
NM_001382391.1(CSPP1):c.2644-15A>C
|
|
|
NM_001382391.1(CSPP1):c.2644-18G>C
|
|
|
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=)
|
rs2129562477
|
|
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=)
|
rs2129562485
|
|
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
|
|
|
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
|
|
|
NM_001382391.1(CSPP1):c.2711-13T>C
|
|
|
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
|
|
|
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
|
|
|
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=)
|
rs2129562840
|
|
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
|
|
|
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
|
|
|
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
|
|
|
NM_001382391.1(CSPP1):c.2828+16C>A
|
rs749065903
|
|
NM_001382391.1(CSPP1):c.2828+20T>A
|
rs2129562857
|
|
NM_001382391.1(CSPP1):c.2829-7T>C
|
|
|
NM_001382391.1(CSPP1):c.2829-8A>G
|
|
|
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
|
|
|
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
|
|
|
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=)
|
rs1586718478
|
|
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
|
|
|
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
|
|
|
NM_001382391.1(CSPP1):c.2969-19A>G
|
|
|
NM_001382391.1(CSPP1):c.2969-8T>A
|
|
|
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=)
|
rs1831352053
|
|
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
|
|
|
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
|
|
|
NM_001382391.1(CSPP1):c.3110-7A>G
|
rs1832018947
|
|
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
|
|
|
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
|
|
|
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
|
|
|
NM_001382391.1(CSPP1):c.3157-19del
|
rs1446937196
|
|
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
|
|
|
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
|
|
|
NM_001382391.1(CSPP1):c.3220+13_3220+16del
|
|
|
NM_001382391.1(CSPP1):c.3220+8T>C
|
|
|
NM_001382391.1(CSPP1):c.3221-10G>A
|
|
|
NM_001382391.1(CSPP1):c.3221-5C>T
|
|
|
NM_001382391.1(CSPP1):c.3221-9T>A
|
rs753184305
|
|
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
|
|
|
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=)
|
rs1442543547
|
|
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
|
|
|
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=)
|
rs2129575182
|
|
NM_001382391.1(CSPP1):c.3330+13C>A
|
|
|
NM_001382391.1(CSPP1):c.3330+13C>T
|
|
|
NM_001382391.1(CSPP1):c.3330+19T>A
|
|
|
NM_001382391.1(CSPP1):c.3330+20C>T
|
|
|
NM_001382391.1(CSPP1):c.3331-10C>T
|
rs774609234
|
|
NM_001382391.1(CSPP1):c.3331-7A>C
|
rs2129575934
|
|
NM_001382391.1(CSPP1):c.3331-8A>G
|
|
|
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
|
|
|
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
|
|
|
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=)
|
rs2129575946
|
|
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=)
|
rs1327593032
|
|
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg)
|
rs546683385
|
|
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=)
|
rs747965774
|
|
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=)
|
rs2129575969
|
|
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
|
|
|
NM_001382391.1(CSPP1):c.3469+10C>T
|
|
|
NM_001382391.1(CSPP1):c.3470-12T>C
|
|
|
NM_001382391.1(CSPP1):c.3470-16C>T
|
|
|
NM_001382391.1(CSPP1):c.3470-20G>A
|
|
|
NM_001382391.1(CSPP1):c.3470-4G>A
|
|
|
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
|
|
|
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
|
|
|
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=)
|
rs2129576649
|
|
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=)
|
rs760969187
|
|
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
|
|
|
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=)
|
rs2129576668
|
|
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
|
|
|
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
|
|
|
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
|
|
|
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
|
|
|
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=)
|
rs2129576686
|
|
NM_001382391.1(CSPP1):c.385-12T>A
|
|
|
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
|
|
|
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
|
|
|
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
|
|
|
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
|
|
|
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
|
|
|
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=)
|
rs1479574918
|
|
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=)
|
rs2129545446
|
|
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=)
|
rs2129545457
|
|
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
|
|
|
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
|
|
|
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
|
|
|
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
|
|
|
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
|
|
|
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
|
|
|
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
|
|
|
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
|
|
|
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=)
|
rs2129545515
|
|
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
|
|
|
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
|
|
|
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=)
|
rs1271272185
|
|
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=)
|
rs2129545545
|
|
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
|
|
|
NM_001382391.1(CSPP1):c.923+25_923+29del
|
rs2129545562
|
|
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
|
|
|
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.183A>G (p.Arg61=)
|
rs2106261155
|
|
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
|
|
|
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
|
|
|
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
|
|
|
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
|
|
|
NM_002601.4(PDE6D):c.372-7C>A
|
rs2048664865
|
|
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
|
|
|
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.67C>A (p.Arg23=)
|
|
|
NM_003611.3(OFD1):c.1055+10T>C
|
|
|
NM_003611.3(OFD1):c.1055+12G>A
|
|
|
NM_003611.3(OFD1):c.1056-11C>T
|
|
|
NM_003611.3(OFD1):c.1056-15C>T
|
|
|
NM_003611.3(OFD1):c.1056-21_1056-18del
|
|
|
NM_003611.3(OFD1):c.105A>G (p.Thr35=)
|
|
|
NM_003611.3(OFD1):c.112-18_112-13del
|
|
|
NM_003611.3(OFD1):c.112-4C>G
|
rs1006144968
|
|
NM_003611.3(OFD1):c.1129+10G>C
|
|
|
NM_003611.3(OFD1):c.1129+11G>A
|
|
|
NM_003611.3(OFD1):c.1129+12G>C
|
|
|
NM_003611.3(OFD1):c.1129+20T>C
|
|
|
NM_003611.3(OFD1):c.1129+9dup
|
rs1384741515
|
|
NM_003611.3(OFD1):c.1130-12C>T
|
|
|
NM_003611.3(OFD1):c.1130-13G>T
|
rs1408701141
|
|
NM_003611.3(OFD1):c.1130-21A>T
|
|
|
NM_003611.3(OFD1):c.1130-22A>C
|
|
|
NM_003611.3(OFD1):c.1130-4dup
|
rs759385204
|
|
NM_003611.3(OFD1):c.1194A>G (p.Gln398=)
|
|
|
NM_003611.3(OFD1):c.12+10C>A
|
rs1301430671
|
|
NM_003611.3(OFD1):c.12+18T>A
|
|
|
NM_003611.3(OFD1):c.12+8C>T
|
|
|
NM_003611.3(OFD1):c.1221+14A>T
|
rs2147016910
|
|
NM_003611.3(OFD1):c.1221+7_1221+8del
|
rs2147016859
|
|
NM_003611.3(OFD1):c.1222-15C>G
|
|
|
NM_003611.3(OFD1):c.1287A>G (p.Glu429=)
|
|
|
NM_003611.3(OFD1):c.1318C>T (p.Leu440=)
|
|
|
NM_003611.3(OFD1):c.1356A>G (p.Lys452=)
|
|
|
NM_003611.3(OFD1):c.1380G>A (p.Glu460=)
|
|
|
NM_003611.3(OFD1):c.1401T>A (p.Arg467=)
|
|
|
NM_003611.3(OFD1):c.1404C>A (p.Leu468=)
|
|
|
NM_003611.3(OFD1):c.1411+11_1411+12dup
|
|
|
NM_003611.3(OFD1):c.1411+15T>C
|
rs2147027201
|
|
NM_003611.3(OFD1):c.1411+8T>G
|
|
|
NM_003611.3(OFD1):c.1412-11T>A
|
|
|
NM_003611.3(OFD1):c.1412-6T>C
|
|
|
NM_003611.3(OFD1):c.1412-7T>G
|
rs2147032358
|
|
NM_003611.3(OFD1):c.1416A>G (p.Leu472=)
|
|
|
NM_003611.3(OFD1):c.1425G>C (p.Pro475=)
|
|
|
NM_003611.3(OFD1):c.142T>C (p.Leu48=)
|
|
|
NM_003611.3(OFD1):c.1443C>G (p.Val481=)
|
|
|
NM_003611.3(OFD1):c.1467C>T (p.Ala489=)
|
|
|
NM_003611.3(OFD1):c.1539C>T (p.Asp513=)
|
|
|
NM_003611.3(OFD1):c.1542+19C>T
|
rs2147033118
|
|
NM_003611.3(OFD1):c.1543-14C>T
|
rs2147036091
|
|
NM_003611.3(OFD1):c.1543-4T>G
|
rs2147036166
|
|
NM_003611.3(OFD1):c.1545T>C (p.Ile515=)
|
|
|
NM_003611.3(OFD1):c.1566G>A (p.Lys522=)
|
|
|
NM_003611.3(OFD1):c.1654+17C>T
|
rs2047798661
|
|
NM_003611.3(OFD1):c.1655-4G>A
|
|
|
NM_003611.3(OFD1):c.1655-9A>T
|
|
|
NM_003611.3(OFD1):c.1662G>A (p.Glu554=)
|
rs1238971253
|
|
NM_003611.3(OFD1):c.1698C>T (p.Ile566=)
|
rs1019902525
|
|
NM_003611.3(OFD1):c.1743C>T (p.Cys581=)
|
|
|
NM_003611.3(OFD1):c.1768T>C (p.Leu590=)
|
rs2147047726
|
|
NM_003611.3(OFD1):c.1794C>T (p.Asn598=)
|
|
|
NM_003611.3(OFD1):c.1800A>G (p.Leu600=)
|
|
|
NM_003611.3(OFD1):c.1968C>T (p.Val656=)
|
|
|
NM_003611.3(OFD1):c.1993C>T (p.Leu665=)
|
rs1742426055
|
|
NM_003611.3(OFD1):c.2043C>T (p.Asn681=)
|
|
|
NM_003611.3(OFD1):c.2061G>A (p.Pro687=)
|
rs757923355
|
|
NM_003611.3(OFD1):c.2166C>T (p.Ala722=)
|
|
|
NM_003611.3(OFD1):c.216C>A (p.Gly72=)
|
rs369907022
|
|
NM_003611.3(OFD1):c.216C>T (p.Gly72=)
|
|
|
NM_003611.3(OFD1):c.2178C>T (p.Arg726=)
|
|
|
NM_003611.3(OFD1):c.2190C>T (p.Ser730=)
|
rs2147049749
|
|
NM_003611.3(OFD1):c.2202C>G (p.Leu734=)
|
|
|
NM_003611.3(OFD1):c.2209A>G (p.Thr737Ala)
|
|
|
NM_003611.3(OFD1):c.2238C>T (p.Leu746=)
|
|
|
NM_003611.3(OFD1):c.2261-6C>T
|
|
|
NM_003611.3(OFD1):c.2261-7A>G
|
|
|
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)
|
|
|
NM_003611.3(OFD1):c.2268C>G (p.Gly756=)
|
rs2147052123
|
|
NM_003611.3(OFD1):c.2289C>G (p.Pro763=)
|
rs947500861
|
|
NM_003611.3(OFD1):c.229T>C (p.Leu77=)
|
|
|
NM_003611.3(OFD1):c.2328T>A (p.Thr776=)
|
|
|
NM_003611.3(OFD1):c.2373G>A (p.Pro791=)
|
rs369277849
|
|
NM_003611.3(OFD1):c.2373G>T (p.Pro791=)
|
rs369277849
|
|
NM_003611.3(OFD1):c.2387+12G>A
|
|
|
NM_003611.3(OFD1):c.2387+16T>G
|
|
|
NM_003611.3(OFD1):c.2489-10C>T
|
|
|
NM_003611.3(OFD1):c.2489-13G>A
|
|
|
NM_003611.3(OFD1):c.2499C>T (p.Asn833=)
|
rs2147066586
|
|
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)
|
|
|
NM_003611.3(OFD1):c.2514G>A (p.Leu838=)
|
rs1443995525
|
|
NM_003611.3(OFD1):c.2586A>G (p.Ser862=)
|
|
|
NM_003611.3(OFD1):c.2595C>T (p.His865=)
|
|
|
NM_003611.3(OFD1):c.2599+8C>T
|
|
|
NM_003611.3(OFD1):c.2600-17_2600-9del
|
|
|
NM_003611.3(OFD1):c.2600-5A>G
|
rs1555908520
|
|
NM_003611.3(OFD1):c.2600-6_2600-3dup
|
|
|
NM_003611.3(OFD1):c.2600-7del
|
rs761400373
|
|
NM_003611.3(OFD1):c.2600-9T>A
|
|
|
NM_003611.3(OFD1):c.2647C>A (p.Arg883=)
|
rs149790559
|
|
NM_003611.3(OFD1):c.264A>G (p.Glu88=)
|
|
|
NM_003611.3(OFD1):c.2655G>A (p.Gln885=)
|
|
|
NM_003611.3(OFD1):c.2701C>T (p.Leu901=)
|
rs773811355
|
|
NM_003611.3(OFD1):c.270A>C (p.Ser90=)
|
|
|
NM_003611.3(OFD1):c.2721G>A (p.Arg907=)
|
|
|
NM_003611.3(OFD1):c.2725C>A (p.Arg909=)
|
|
|
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
|
|
|
NM_003611.3(OFD1):c.2784T>A (p.Ile928=)
|
rs2147086051
|
|
NM_003611.3(OFD1):c.2811A>G (p.Glu937=)
|
|
|
NM_003611.3(OFD1):c.2880A>G (p.Lys960=)
|
|
|
NM_003611.3(OFD1):c.288A>G (p.Pro96=)
|
rs2146913731
|
|
NM_003611.3(OFD1):c.2895C>T (p.Ile965=)
|
rs2147086446
|
|
NM_003611.3(OFD1):c.2928+13T>C
|
rs2147086599
|
|
NM_003611.3(OFD1):c.2928+16_2928+22del
|
rs2147086617
|
|
NM_003611.3(OFD1):c.2928+7G>A
|
|
|
NM_003611.3(OFD1):c.2929-13T>C
|
|
|
NM_003611.3(OFD1):c.2929-17C>T
|
rs2147088855
|
|
NM_003611.3(OFD1):c.2929-20C>T
|
|
|
NM_003611.3(OFD1):c.2929-6A>G
|
rs2147088923
|
|
NM_003611.3(OFD1):c.2931C>T (p.Ser977=)
|
rs1555908984
|
|
NM_003611.3(OFD1):c.2959C>T (p.Leu987=)
|
rs148543618
|
|
NM_003611.3(OFD1):c.2970G>T (p.Thr990=)
|
|
|
NM_003611.3(OFD1):c.2991C>G (p.Val997=)
|
rs373088434
|
|
NM_003611.3(OFD1):c.2996+7G>C
|
|
|
NM_003611.3(OFD1):c.2997-13T>C
|
|
|
NM_003611.3(OFD1):c.3006C>G (p.Gly1002=)
|
|
|
NM_003611.3(OFD1):c.3009T>C (p.Phe1003=)
|
|
|
NM_003611.3(OFD1):c.312+12C>G
|
|
|
NM_003611.3(OFD1):c.313-16C>A
|
|
|
NM_003611.3(OFD1):c.336A>G (p.Leu112=)
|
|
|
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
|
|
|
NM_003611.3(OFD1):c.363C>A (p.Ser121=)
|
rs2146928280
|
|
NM_003611.3(OFD1):c.381+10C>G
|
|
|
NM_003611.3(OFD1):c.381+20G>A
|
|
|
NM_003611.3(OFD1):c.393T>G (p.Ser131=)
|
rs2146928832
|
|
NM_003611.3(OFD1):c.412+10G>T
|
rs201837087
|
|
NM_003611.3(OFD1):c.412+9C>T
|
|
|
NM_003611.3(OFD1):c.413-11_413-10del
|
rs1192195829
|
|
NM_003611.3(OFD1):c.413-9del
|
rs2146959237
|
|
NM_003611.3(OFD1):c.42G>A (p.Leu14=)
|
|
|
NM_003611.3(OFD1):c.495G>T (p.Ser165=)
|
|
|
NM_003611.3(OFD1):c.518-17dup
|
|
|
NM_003611.3(OFD1):c.518-19A>G
|
|
|
NM_003611.3(OFD1):c.651A>G (p.Gln217=)
|
|
|
NM_003611.3(OFD1):c.655-9A>C
|
rs758500578
|
|
NM_003611.3(OFD1):c.678G>A (p.Glu226=)
|
|
|
NM_003611.3(OFD1):c.723G>A (p.Glu241=)
|
rs2146969853
|
|
NM_003611.3(OFD1):c.894A>C (p.Gly298=)
|
|
|
NM_003611.3(OFD1):c.903A>G (p.Ala301=)
|
|
|
NM_003611.3(OFD1):c.909G>A (p.Leu303=)
|
rs2047424118
|
|
NM_003611.3(OFD1):c.935+8A>T
|
|
|
NM_003611.3(OFD1):c.936-17A>G
|
rs2146992165
|
|
NM_003611.3(OFD1):c.954A>G (p.Glu318=)
|
rs2047489521
|
|
NM_003611.3(OFD1):c.975T>G (p.Thr325=)
|
rs2047490824
|
|
NM_014704.4(CEP104):c.113+19G>A
|
|
|
NM_014704.4(CEP104):c.113+7A>C
|
|
|
NM_014704.4(CEP104):c.123G>A (p.Gln41=)
|
|
|
NM_014704.4(CEP104):c.1317+12_1317+13insC
|
|
|
NM_014704.4(CEP104):c.1317+16A>C
|
|
|
NM_014704.4(CEP104):c.1317+17_1317+18insC
|
|
|
NM_014704.4(CEP104):c.1473C>T (p.Asp491=)
|
|
|
NM_014704.4(CEP104):c.1479G>A (p.Val493=)
|
|
|
NM_014704.4(CEP104):c.1485+14G>A
|
rs2124668323
|
|
NM_014704.4(CEP104):c.1635C>T (p.Arg545=)
|
|
|
NM_014704.4(CEP104):c.1659+16C>T
|
|
|
NM_014704.4(CEP104):c.1659+17G>A
|
|
|
NM_014704.4(CEP104):c.1660-4A>C
|
|
|
NM_014704.4(CEP104):c.1716G>A (p.Val572=)
|
rs1570796463
|
|
NM_014704.4(CEP104):c.1809G>A (p.Ser603=)
|
|
|
NM_014704.4(CEP104):c.1836+16G>A
|
|
|
NM_014704.4(CEP104):c.1905C>T (p.Asp635=)
|
rs2124656471
|
|
NM_014704.4(CEP104):c.2043+7del
|
|
|
NM_014704.4(CEP104):c.2127G>C (p.Leu709=)
|
rs1228921351
|
|
NM_014704.4(CEP104):c.2151+15C>T
|
|
|
NM_014704.4(CEP104):c.2151+16G>A
|
|
|
NM_014704.4(CEP104):c.2214T>C (p.Pro738=)
|
rs2124649026
|
|
NM_014704.4(CEP104):c.2255+8G>A
|
|
|
NM_014704.4(CEP104):c.2325G>A (p.Lys775=)
|
|
|
NM_014704.4(CEP104):c.2344A>C (p.Arg782=)
|
|
|
NM_014704.4(CEP104):c.2365-18C>G
|
|
|
NM_014704.4(CEP104):c.2460C>T (p.Phe820=)
|
|
|
NM_014704.4(CEP104):c.2503+17A>G
|
|
|
NM_014704.4(CEP104):c.2601C>T (p.Ala867=)
|
|
|
NM_014704.4(CEP104):c.2662+12C>T
|
|
|
NM_014704.4(CEP104):c.2662+13G>A
|
|
|
NM_014704.4(CEP104):c.2703A>G (p.Ser901=)
|
rs369737290
|
|
NM_014704.4(CEP104):c.2709C>T (p.Ala903=)
|
|
|
NM_014704.4(CEP104):c.2730G>A (p.Pro910=)
|
|
|
NM_014704.4(CEP104):c.2751C>T (p.Ser917=)
|
rs538187962
|
|
NM_014704.4(CEP104):c.2775C>T (p.Arg925=)
|
|
|
NM_014704.4(CEP104):c.390C>T (p.His130=)
|
rs1011573112
|
|
NM_014704.4(CEP104):c.426+19C>T
|
|
|
NM_014704.4(CEP104):c.426+20G>A
|
|
|
NM_014704.4(CEP104):c.45C>T (p.His15=)
|
|
|
NM_014704.4(CEP104):c.489+15T>C
|
|
|
NM_014704.4(CEP104):c.566+12G>A
|
|
|
NM_014704.4(CEP104):c.606T>C (p.Phe202=)
|
|
|
NM_014704.4(CEP104):c.736-19_736-18delinsAT
|
rs2124676799
|
|
NM_014704.4(CEP104):c.885C>T (p.Ala295=)
|
|
|
NM_014704.4(CEP104):c.891+20C>T
|
|
|
NM_014704.4(CEP104):c.892-16C>G
|
|
|
NM_014704.4(CEP104):c.927C>T (p.Leu309=)
|
|
|
NM_014704.4(CEP104):c.984A>G (p.Glu328=)
|
|
|
NM_015272.5(RPGRIP1L):c.1005G>A (p.Lys335=)
|
|
|
NM_015272.5(RPGRIP1L):c.1029+10C>T
|
rs542635220
|
|
NM_015272.5(RPGRIP1L):c.1029+15A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1029+15A>T
|
|
|
NM_015272.5(RPGRIP1L):c.1029+16G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1029+9C>G
|
rs2151244866
|
|
NM_015272.5(RPGRIP1L):c.1029+9C>T
|
|
|
NM_015272.5(RPGRIP1L):c.102G>A (p.Arg34=)
|
rs1598420614
|
|
NM_015272.5(RPGRIP1L):c.1030-13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1030-15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1030-18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1030-20T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1030-7A>G
|
rs2151236913
|
|
NM_015272.5(RPGRIP1L):c.1032G>A (p.Leu344=)
|
rs1598372472
|
|
NM_015272.5(RPGRIP1L):c.1032G>C (p.Leu344=)
|
rs1598372472
|
|
NM_015272.5(RPGRIP1L):c.1032G>T (p.Leu344=)
|
rs1598372472
|
|
NM_015272.5(RPGRIP1L):c.1035G>A (p.Gln345=)
|
rs1437242760
|
|
NM_015272.5(RPGRIP1L):c.1047T>C (p.Asn349=)
|
rs2151236754
|
|
NM_015272.5(RPGRIP1L):c.1062A>G (p.Glu354=)
|
rs2151236607
|
|
NM_015272.5(RPGRIP1L):c.1065G>A (p.Arg355=)
|
rs2151236560
|
|
NM_015272.5(RPGRIP1L):c.1071T>G (p.Leu357=)
|
|
|
NM_015272.5(RPGRIP1L):c.1077G>A (p.Lys359=)
|
|
|
NM_015272.5(RPGRIP1L):c.1080A>G (p.Glu360=)
|
rs2151236444
|
|
NM_015272.5(RPGRIP1L):c.1089T>C (p.Asp363=)
|
|
|
NM_015272.5(RPGRIP1L):c.1103+15C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1103+17T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18G>C
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18del
|
|
|
NM_015272.5(RPGRIP1L):c.1103+8G>A
|
rs564455571
|
|
NM_015272.5(RPGRIP1L):c.1103+9T>A
|
|
|
NM_015272.5(RPGRIP1L):c.1103+9T>C
|
rs2151236168
|
|
NM_015272.5(RPGRIP1L):c.1104-13G>T
|
|
|
NM_015272.5(RPGRIP1L):c.1104-4G>C
|
|
|
NM_015272.5(RPGRIP1L):c.1110C>T (p.Phe370=)
|
rs2151199080
|
|
NM_015272.5(RPGRIP1L):c.1116T>C (p.Ala372=)
|
|
|
NM_015272.5(RPGRIP1L):c.1119C>G (p.Ala373=)
|
rs1347730821
|
|
NM_015272.5(RPGRIP1L):c.1137G>A (p.Lys379=)
|
|
|
NM_015272.5(RPGRIP1L):c.1143G>A (p.Lys381=)
|
|
|
NM_015272.5(RPGRIP1L):c.1149A>G (p.Gln383=)
|
rs2151198800
|
|
NM_015272.5(RPGRIP1L):c.114T>A (p.Ser38=)
|
rs2151379752
|
|
NM_015272.5(RPGRIP1L):c.1155G>T (p.Leu385=)
|
|
|
NM_015272.5(RPGRIP1L):c.1161G>T (p.Val387=)
|
rs2151198681
|
|
NM_015272.5(RPGRIP1L):c.1167T>A (p.Ile389=)
|
rs1271430052
|
|
NM_015272.5(RPGRIP1L):c.1176C>G (p.Leu392=)
|
rs759115653
|
|
NM_015272.5(RPGRIP1L):c.117C>G (p.Arg39=)
|
rs763892496
|
|
NM_015272.5(RPGRIP1L):c.120G>A (p.Gln40=)
|
rs1660515981
|
|
NM_015272.5(RPGRIP1L):c.1218C>A (p.Ile406=)
|
rs1598357541
|
|
NM_015272.5(RPGRIP1L):c.1218C>T (p.Ile406=)
|
rs1598357541
|
|
NM_015272.5(RPGRIP1L):c.1224C>T (p.Asp408=)
|
|
|
NM_015272.5(RPGRIP1L):c.1243+7T>A
|
rs1302178966
|
|
NM_015272.5(RPGRIP1L):c.1243+8T>C
|
rs2151198059
|
|
NM_015272.5(RPGRIP1L):c.1243+9G>A
|
rs781524446
|
|
NM_015272.5(RPGRIP1L):c.1244-10del
|
rs1967515071
|
|
NM_015272.5(RPGRIP1L):c.1244-19T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1244-9A>G
|
rs2151165404
|
|
NM_015272.5(RPGRIP1L):c.1251T>C (p.Asn417=)
|
rs2151165227
|
|
NM_015272.5(RPGRIP1L):c.1269G>A (p.Glu423=)
|
|
|
NM_015272.5(RPGRIP1L):c.126G>A (p.Val42=)
|
rs1423077786
|
|
NM_015272.5(RPGRIP1L):c.1293T>C (p.Tyr431=)
|
rs2151164876
|
|
NM_015272.5(RPGRIP1L):c.1344C>T (p.Tyr448=)
|
rs1967498439
|
|
NM_015272.5(RPGRIP1L):c.1350+15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1350+17_1350+20del
|
|
|
NM_015272.5(RPGRIP1L):c.1351-12A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1351-12A>G
|
rs374000859
|
|
NM_015272.5(RPGRIP1L):c.1351-13dup
|
|
|
NM_015272.5(RPGRIP1L):c.1351-15_1351-12del
|
|
|
NM_015272.5(RPGRIP1L):c.1351-16A>T
|
|
|
NM_015272.5(RPGRIP1L):c.1351-18T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1351-4G>A
|
rs1479026011
|
|
NM_015272.5(RPGRIP1L):c.1351-9C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1374A>G (p.Glu458=)
|
rs2151162320
|
|
NM_015272.5(RPGRIP1L):c.1377G>A (p.Leu459=)
|
|
|
NM_015272.5(RPGRIP1L):c.1386T>C (p.Ala462=)
|
|
|
NM_015272.5(RPGRIP1L):c.1401+12A>T
|
rs2151161924
|
|
NM_015272.5(RPGRIP1L):c.1401+13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1401+14C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1401+16T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1401+18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1401+20C>A
|
|
|
NM_015272.5(RPGRIP1L):c.1401+20C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1401+8T>C
|
rs2151161961
|
|
NM_015272.5(RPGRIP1L):c.1401+9C>G
|
rs768434507
|
|
NM_015272.5(RPGRIP1L):c.1401+9C>T
|
rs768434507
|
|
NM_015272.5(RPGRIP1L):c.1402-11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1402-13dup
|
rs1361189318
|
|
NM_015272.5(RPGRIP1L):c.1402-14G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1402-18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1404T>C (p.Ala468=)
|
rs2151157523
|
|
NM_015272.5(RPGRIP1L):c.1416A>G (p.Gln472=)
|
rs2151157400
|
|
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del)
|
rs760952407
|
|
NM_015272.5(RPGRIP1L):c.1428C>T (p.Asp476=)
|
rs2151157288
|
|
NM_015272.5(RPGRIP1L):c.1437T>C (p.Phe479=)
|
rs2151157214
|
|
NM_015272.5(RPGRIP1L):c.1455T>C (p.Ser485=)
|
|
|
NM_015272.5(RPGRIP1L):c.1479C>T (p.Arg493=)
|
|
|
NM_015272.5(RPGRIP1L):c.1492C>T (p.Leu498=)
|
rs777340505
|
|
NM_015272.5(RPGRIP1L):c.1509A>G (p.Ala503=)
|
rs2151156589
|
|
NM_015272.5(RPGRIP1L):c.1515G>A (p.Thr505=)
|
rs1472969606
|
|
NM_015272.5(RPGRIP1L):c.1524G>A (p.Glu508=)
|
rs1238972011
|
|
NM_015272.5(RPGRIP1L):c.1525C>T (p.Leu509=)
|
rs780528142
|
|
NM_015272.5(RPGRIP1L):c.1536A>G (p.Thr512=)
|
rs1020243535
|
|
NM_015272.5(RPGRIP1L):c.153A>G (p.Glu51=)
|
rs1970746720
|
|
NM_015272.5(RPGRIP1L):c.1548A>G (p.Leu516=)
|
|
|
NM_015272.5(RPGRIP1L):c.1581+11dup
|
|
|
NM_015272.5(RPGRIP1L):c.1581+15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1581+17A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1581+20G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1581+20G>C
|
|
|
NM_015272.5(RPGRIP1L):c.1581+9A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1582-20T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1582-4G>A
|
rs1967278713
|
|
NM_015272.5(RPGRIP1L):c.1587G>A (p.Glu529=)
|
|
|
NM_015272.5(RPGRIP1L):c.1618T>C (p.Leu540=)
|
|
|
NM_015272.5(RPGRIP1L):c.1623G>A (p.Gln541=)
|
rs1178582517
|
|
NM_015272.5(RPGRIP1L):c.1638C>G (p.Leu546=)
|
|
|
NM_015272.5(RPGRIP1L):c.1650G>A (p.Gln550=)
|
rs2151150317
|
|
NM_015272.5(RPGRIP1L):c.1656T>C (p.Val552=)
|
|
|
NM_015272.5(RPGRIP1L):c.1656T>G (p.Val552=)
|
rs2151150242
|
|
NM_015272.5(RPGRIP1L):c.1659T>C (p.His553=)
|
rs1227717832
|
|
NM_015272.5(RPGRIP1L):c.1672A>C (p.Arg558=)
|
|
|
NM_015272.5(RPGRIP1L):c.1680A>G (p.Ala560=)
|
|
|
NM_015272.5(RPGRIP1L):c.1693C>T (p.Leu565=)
|
rs2151149921
|
|
NM_015272.5(RPGRIP1L):c.1699+13C>T
|
rs1212500499
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>A
|
rs188075133
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>T
|
rs188075133
|
|
NM_015272.5(RPGRIP1L):c.1699+17T>A
|
|
|
NM_015272.5(RPGRIP1L):c.1699+9T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1700-16G>T
|
rs1555604481
|
|
NM_015272.5(RPGRIP1L):c.1700-4G>A
|
rs1966916853
|
|
NM_015272.5(RPGRIP1L):c.1700-4G>T
|
rs1966916853
|
|
NM_015272.5(RPGRIP1L):c.1700-9C>G
|
|
|
NM_015272.5(RPGRIP1L):c.1700-9C>T
|
rs2151128760
|
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
|
NM_015272.5(RPGRIP1L):c.1746A>G (p.Lys582=)
|
rs2151128298
|
|
NM_015272.5(RPGRIP1L):c.1773T>C (p.Val591=)
|
rs2151128005
|
|
NM_015272.5(RPGRIP1L):c.1809C>G (p.Gly603=)
|
|
|
NM_015272.5(RPGRIP1L):c.1815T>C (p.Asn605=)
|
rs2151127604
|
|
NM_015272.5(RPGRIP1L):c.1818A>G (p.Leu606=)
|
|
|
NM_015272.5(RPGRIP1L):c.1827C>T (p.Ile609=)
|
|
|
NM_015272.5(RPGRIP1L):c.1830T>C (p.His610=)
|
|
|
NM_015272.5(RPGRIP1L):c.1833C>T (p.Ile611=)
|
rs756141067
|
|
NM_015272.5(RPGRIP1L):c.1842A>G (p.Val614=)
|
rs781049099
|
|
NM_015272.5(RPGRIP1L):c.1854T>G (p.Ser618=)
|
|
|
NM_015272.5(RPGRIP1L):c.1860T>C (p.Val620=)
|
|
|
NM_015272.5(RPGRIP1L):c.1861T>C (p.Leu621=)
|
|
|
NM_015272.5(RPGRIP1L):c.1884G>A (p.Glu628=)
|
rs2151126933
|
|
NM_015272.5(RPGRIP1L):c.1893T>G (p.Thr631=)
|
|
|
NM_015272.5(RPGRIP1L):c.1914T>C (p.Tyr638=)
|
|
|
NM_015272.5(RPGRIP1L):c.1926A>T (p.Leu642=)
|
|
|
NM_015272.5(RPGRIP1L):c.1935T>A (p.Thr645=)
|
rs2151126431
|
|
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)
|
rs745879566
|
|
NM_015272.5(RPGRIP1L):c.1959C>T (p.Pro653=)
|
rs1213772384
|
|
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)
|
rs138669723
|
|
NM_015272.5(RPGRIP1L):c.1974T>C (p.Thr658=)
|
|
|
NM_015272.5(RPGRIP1L):c.1986T>C (p.Leu662=)
|
rs2151125842
|
|
NM_015272.5(RPGRIP1L):c.198G>A (p.Gln66=)
|
rs2151379187
|
|
NM_015272.5(RPGRIP1L):c.1995T>C (p.Val665=)
|
rs2151125697
|
|
NM_015272.5(RPGRIP1L):c.1998T>C (p.Asn666=)
|
|
|
NM_015272.5(RPGRIP1L):c.2008T>C (p.Leu670=)
|
|
|
NM_015272.5(RPGRIP1L):c.2022G>A (p.Gln674=)
|
|
|
NM_015272.5(RPGRIP1L):c.2040T>G (p.Leu680=)
|
|
|
NM_015272.5(RPGRIP1L):c.2064A>G (p.Thr688=)
|
|
|
NM_015272.5(RPGRIP1L):c.2070T>C (p.Tyr690=)
|
|
|
NM_015272.5(RPGRIP1L):c.207C>G (p.Arg69=)
|
|
|
NM_015272.5(RPGRIP1L):c.2115A>G (p.Glu705=)
|
|
|
NM_015272.5(RPGRIP1L):c.2145T>C (p.Ser715=)
|
|
|
NM_015272.5(RPGRIP1L):c.2152+10A>C
|
rs1966875026
|
|
NM_015272.5(RPGRIP1L):c.2152+10A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2152+11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2152+19C>A
|
rs754811161
|
|
NM_015272.5(RPGRIP1L):c.2152+19C>G
|
rs754811161
|
|
NM_015272.5(RPGRIP1L):c.2152+7A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2152+8C>G
|
rs2151124212
|
|
NM_015272.5(RPGRIP1L):c.2153-12A>G
|
rs2151102687
|
|
NM_015272.5(RPGRIP1L):c.2153-13T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2153-14G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2153-14G>C
|
|
|
NM_015272.5(RPGRIP1L):c.2153-15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2153-16A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2153-16A>T
|
|
|
NM_015272.5(RPGRIP1L):c.2153-19G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2153-19G>T
|
rs988899852
|
|
NM_015272.5(RPGRIP1L):c.2153-20_2153-18del
|
|
|
NM_015272.5(RPGRIP1L):c.2153-4G>A
|
rs201380599
|
|
NM_015272.5(RPGRIP1L):c.2153-5del
|
|
|
NM_015272.5(RPGRIP1L):c.2153-7T>A
|
|
|
NM_015272.5(RPGRIP1L):c.2172A>G (p.Pro724=)
|
rs1472949647
|
|
NM_015272.5(RPGRIP1L):c.2184A>C (p.Thr728=)
|
rs2151102385
|
|
NM_015272.5(RPGRIP1L):c.2184A>G (p.Thr728=)
|
|
|
NM_015272.5(RPGRIP1L):c.2190A>G (p.Glu730=)
|
|
|
NM_015272.5(RPGRIP1L):c.2193C>T (p.Tyr731=)
|
|
|
NM_015272.5(RPGRIP1L):c.2214C>G (p.Pro738=)
|
|
|
NM_015272.5(RPGRIP1L):c.2223A>G (p.Gln741=)
|
|
|
NM_015272.5(RPGRIP1L):c.2230C>A (p.Arg744=)
|
rs267604575
|
|
NM_015272.5(RPGRIP1L):c.2241A>T (p.Arg747=)
|
rs2151101997
|
|
NM_015272.5(RPGRIP1L):c.2244A>G (p.Glu748=)
|
rs2151101953
|
|
NM_015272.5(RPGRIP1L):c.225T>A (p.Ile75=)
|
rs2151379048
|
|
NM_015272.5(RPGRIP1L):c.2262G>T (p.Gly754=)
|
rs775616241
|
|
NM_015272.5(RPGRIP1L):c.2271A>G (p.Thr757=)
|
rs2151101735
|
|
NM_015272.5(RPGRIP1L):c.2277T>C (p.Asn759=)
|
rs2151101706
|
|
NM_015272.5(RPGRIP1L):c.2286G>A (p.Gly762=)
|
|
|
NM_015272.5(RPGRIP1L):c.2286G>T (p.Gly762=)
|
rs769599317
|
|
NM_015272.5(RPGRIP1L):c.230+10A>G
|
|
|
NM_015272.5(RPGRIP1L):c.230+14G>A
|
rs1970739259
|
|
NM_015272.5(RPGRIP1L):c.230+14G>T
|
|
|
NM_015272.5(RPGRIP1L):c.230+17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.230+18T>G
|
|
|
NM_015272.5(RPGRIP1L):c.230+19T>C
|
|
|
NM_015272.5(RPGRIP1L):c.230+9A>G
|
rs774753693
|
|
NM_015272.5(RPGRIP1L):c.2301G>A (p.Gln767=)
|
rs1338012833
|
|
NM_015272.5(RPGRIP1L):c.2304+12T>G
|
|
|
NM_015272.5(RPGRIP1L):c.2304+14G>C
|
|
|
NM_015272.5(RPGRIP1L):c.2304+18T>A
|
|
|
NM_015272.5(RPGRIP1L):c.2304+18T>C
|
rs780469767
|
|
NM_015272.5(RPGRIP1L):c.2304+8C>T
|
rs1421469718
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>C
|
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>G
|
rs1461433745
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>T
|
rs1461433745
|
|
NM_015272.5(RPGRIP1L):c.2305-11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2305-15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2305-8T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2305-8T>G
|
rs953486434
|
|
NM_015272.5(RPGRIP1L):c.231-10A>C
|
|
|
NM_015272.5(RPGRIP1L):c.231-13A>C
|
|
|
NM_015272.5(RPGRIP1L):c.231-4C>G
|
rs774628905
|
|
NM_015272.5(RPGRIP1L):c.231-5C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2319A>C (p.Ala773=)
|
rs2151084071
|
|
NM_015272.5(RPGRIP1L):c.2334A>G (p.Gln778=)
|
rs1435869251
|
|
NM_015272.5(RPGRIP1L):c.2346A>G (p.Thr782=)
|
|
|
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)
|
rs1966518935
|
|
NM_015272.5(RPGRIP1L):c.2352C>A (p.Ser784=)
|
|
|
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=)
|
rs1468139751
|
|
NM_015272.5(RPGRIP1L):c.2361C>A (p.Gly787=)
|
rs1481436139
|
|
NM_015272.5(RPGRIP1L):c.2370T>C (p.Asn790=)
|
rs2151083713
|
|
NM_015272.5(RPGRIP1L):c.2379C>T (p.His793=)
|
rs1567830747
|
|
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)
|
rs1970448329
|
|
NM_015272.5(RPGRIP1L):c.2391A>G (p.Arg797=)
|
|
|
NM_015272.5(RPGRIP1L):c.2418A>G (p.Ala806=)
|
rs1966512167
|
|
NM_015272.5(RPGRIP1L):c.2424C>T (p.His808=)
|
rs771774137
|
|
NM_015272.5(RPGRIP1L):c.2425C>T (p.Leu809=)
|
|
|
NM_015272.5(RPGRIP1L):c.243G>A (p.Lys81=)
|
|
|
NM_015272.5(RPGRIP1L):c.2445T>C (p.Val815=)
|
rs2151083124
|
|
NM_015272.5(RPGRIP1L):c.2460T>C (p.Phe820=)
|
rs778075524
|
|
NM_015272.5(RPGRIP1L):c.2481A>C (p.Thr827=)
|
|
|
NM_015272.5(RPGRIP1L):c.2484T>G (p.Ala828=)
|
rs2151082787
|
|
NM_015272.5(RPGRIP1L):c.2487C>T (p.Ile829=)
|
rs2151082774
|
|
NM_015272.5(RPGRIP1L):c.2490T>C (p.Ile830=)
|
|
|
NM_015272.5(RPGRIP1L):c.2496T>C (p.Ser832=)
|
rs2151082740
|
|
NM_015272.5(RPGRIP1L):c.2508A>G (p.Pro836=)
|
rs753693082
|
|
NM_015272.5(RPGRIP1L):c.2508A>T (p.Pro836=)
|
rs753693082
|
|
NM_015272.5(RPGRIP1L):c.250C>A (p.Arg84=)
|
|
|
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)
|
rs1598310040
|
|
NM_015272.5(RPGRIP1L):c.2532C>T (p.Phe844=)
|
rs760455293
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
NM_015272.5(RPGRIP1L):c.2571G>A (p.Lys857=)
|
|
|
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=)
|
rs1966500554
|
|
NM_015272.5(RPGRIP1L):c.2577G>A (p.Glu859=)
|
rs2151082234
|
|
NM_015272.5(RPGRIP1L):c.2592T>C (p.Tyr864=)
|
|
|
NM_015272.5(RPGRIP1L):c.2595T>G (p.Val865=)
|
rs546554009
|
|
NM_015272.5(RPGRIP1L):c.2601T>C (p.Asp867=)
|
|
|
NM_015272.5(RPGRIP1L):c.2604T>C (p.Asp868=)
|
rs1567829935
|
|
NM_015272.5(RPGRIP1L):c.261T>C (p.Asn87=)
|
rs752587948
|
|
NM_015272.5(RPGRIP1L):c.2634A>G (p.Gly878=)
|
|
|
NM_015272.5(RPGRIP1L):c.2658G>T (p.Ser886=)
|
|
|
NM_015272.5(RPGRIP1L):c.267G>A (p.Lys89=)
|
rs1434968352
|
|
NM_015272.5(RPGRIP1L):c.2683+15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2683+15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.2684-14T>A
|
|
|
NM_015272.5(RPGRIP1L):c.2684-14T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2684-15A>C
|
|
|
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=)
|
rs1038661631
|
|
NM_015272.5(RPGRIP1L):c.2730C>T (p.Ile910=)
|
|
|
NM_015272.5(RPGRIP1L):c.2733T>C (p.His911=)
|
rs780925825
|
|
NM_015272.5(RPGRIP1L):c.2740T>C (p.Leu914=)
|
rs746733895
|
|
NM_015272.5(RPGRIP1L):c.2751A>G (p.Lys917=)
|
rs2151059675
|
|
NM_015272.5(RPGRIP1L):c.2763T>G (p.Leu921=)
|
rs2151059581
|
|
NM_015272.5(RPGRIP1L):c.2766A>G (p.Pro922=)
|
rs1567825162
|
|
NM_015272.5(RPGRIP1L):c.2778A>G (p.Ser926=)
|
rs1293313012
|
|
NM_015272.5(RPGRIP1L):c.2781A>T (p.Ile927=)
|
|
|
NM_015272.5(RPGRIP1L):c.2784A>G (p.Thr928=)
|
|
|
NM_015272.5(RPGRIP1L):c.27A>C (p.Ala9=)
|
rs765315344
|
|
NM_015272.5(RPGRIP1L):c.27A>G (p.Ala9=)
|
rs765315344
|
|
NM_015272.5(RPGRIP1L):c.2823A>G (p.Pro941=)
|
rs1966206646
|
|
NM_015272.5(RPGRIP1L):c.282G>T (p.Arg94=)
|
rs2151353718
|
|
NM_015272.5(RPGRIP1L):c.2853C>T (p.Ser951=)
|
rs2151058811
|
|
NM_015272.5(RPGRIP1L):c.2859T>C (p.Val953=)
|
|
|
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)
|
rs2151058712
|
|
NM_015272.5(RPGRIP1L):c.2874+10A>C
|
|
|
NM_015272.5(RPGRIP1L):c.2874+11G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2874+13G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2874+18_2874+19del
|
|
|
NM_015272.5(RPGRIP1L):c.2875-15G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2875-17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2875-20C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2875-4T>C
|
rs2151057424
|
|
NM_015272.5(RPGRIP1L):c.2875-5C>G
|
|
|
NM_015272.5(RPGRIP1L):c.2875-5C>T
|
rs758927533
|
|
NM_015272.5(RPGRIP1L):c.2875-6T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2883A>G (p.Arg961=)
|
rs1459496882
|
|
NM_015272.5(RPGRIP1L):c.2886T>G (p.Pro962=)
|
|
|
NM_015272.5(RPGRIP1L):c.2913A>C (p.Val971=)
|
rs766575191
|
|
NM_015272.5(RPGRIP1L):c.2919G>A (p.Lys973=)
|
rs2151056978
|
|
NM_015272.5(RPGRIP1L):c.291C>A (p.Gly97=)
|
rs765369037
|
|
NM_015272.5(RPGRIP1L):c.2934G>A (p.Val978=)
|
|
|
NM_015272.5(RPGRIP1L):c.294C>T (p.Gly98=)
|
|
|
NM_015272.5(RPGRIP1L):c.2958+10A>G
|
rs2151056471
|
|
NM_015272.5(RPGRIP1L):c.2958+11G>T
|
|
|
NM_015272.5(RPGRIP1L):c.2958+12A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2958+4_2958+7dup
|
rs2151056517
|
|
NM_015272.5(RPGRIP1L):c.2959-11A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2959-12C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2959-13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2959-8A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2961G>A (p.Glu987=)
|
|
|
NM_015272.5(RPGRIP1L):c.2964T>C (p.Thr988=)
|
|
|
NM_015272.5(RPGRIP1L):c.2964T>G (p.Thr988=)
|
rs2151040746
|
|
NM_015272.5(RPGRIP1L):c.2976T>C (p.Pro992=)
|
rs2151040617
|
|
NM_015272.5(RPGRIP1L):c.2985G>A (p.Arg995=)
|
|
|
NM_015272.5(RPGRIP1L):c.2988G>A (p.Lys996=)
|
|
|
NM_015272.5(RPGRIP1L):c.3024A>T (p.Ile1008=)
|
|
|
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)
|
rs182207372
|
|
NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=)
|
rs182207372
|
|
NM_015272.5(RPGRIP1L):c.3042T>C (p.Thr1014=)
|
|
|
NM_015272.5(RPGRIP1L):c.3045_3060+12dup
|
|
|
NM_015272.5(RPGRIP1L):c.3060+10T>A
|
rs2151039825
|
|
NM_015272.5(RPGRIP1L):c.3060+7A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3060+8T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3061-18G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3061-7T>C
|
rs1965940741
|
|
NM_015272.5(RPGRIP1L):c.3069A>G (p.Gln1023=)
|
|
|
NM_015272.5(RPGRIP1L):c.3078T>C (p.Ser1026=)
|
|
|
NM_015272.5(RPGRIP1L):c.3084T>C (p.Asp1028=)
|
rs1965938868
|
|
NM_015272.5(RPGRIP1L):c.3090A>G (p.Val1030=)
|
rs1965937231
|
|
NM_015272.5(RPGRIP1L):c.3138A>G (p.Leu1046=)
|
rs1306386140
|
|
NM_015272.5(RPGRIP1L):c.3141A>G (p.Leu1047=)
|
|
|
NM_015272.5(RPGRIP1L):c.3156T>A (p.Leu1052=)
|
rs2151036210
|
|
NM_015272.5(RPGRIP1L):c.3162A>G (p.Glu1054=)
|
rs2151036177
|
|
NM_015272.5(RPGRIP1L):c.3168C>T (p.Ser1056=)
|
|
|
NM_015272.5(RPGRIP1L):c.3169T>C (p.Leu1057=)
|
|
|
NM_015272.5(RPGRIP1L):c.3171G>A (p.Leu1057=)
|
|
|
NM_015272.5(RPGRIP1L):c.3174A>G (p.Ala1058=)
|
rs1965928165
|
|
NM_015272.5(RPGRIP1L):c.3192A>C (p.Thr1064=)
|
rs956639777
|
|
NM_015272.5(RPGRIP1L):c.3192A>G (p.Thr1064=)
|
rs956639777
|
|
NM_015272.5(RPGRIP1L):c.3220+7T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3220+8T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3221-14T>A
|
rs761174078
|
|
NM_015272.5(RPGRIP1L):c.3221-15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3221-17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3221-20C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3221-7T>C
|
rs1170674790
|
|
NM_015272.5(RPGRIP1L):c.3237A>C (p.Ser1079=)
|
|
|
NM_015272.5(RPGRIP1L):c.3246C>T (p.Asp1082=)
|
|
|
NM_015272.5(RPGRIP1L):c.3270T>C (p.Gly1090=)
|
|
|
NM_015272.5(RPGRIP1L):c.327A>G (p.Glu109=)
|
|
|
NM_015272.5(RPGRIP1L):c.3294+10T>C
|
rs201237327
|
|
NM_015272.5(RPGRIP1L):c.3294+11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3294+17C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3294+19A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3294+9C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3295-10T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-16T>A
|
|
|
NM_015272.5(RPGRIP1L):c.3295-18_3295-17insC
|
|
|
NM_015272.5(RPGRIP1L):c.3295-20T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-4A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-6A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7dup
|
|
|
NM_015272.5(RPGRIP1L):c.3295-9T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3295-9_3295-8insG
|
|
|
NM_015272.5(RPGRIP1L):c.330A>G (p.Glu110=)
|
rs1970437460
|
|
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=)
|
rs568801926
|
|
NM_015272.5(RPGRIP1L):c.3315G>A (p.Gly1105=)
|
|
|
NM_015272.5(RPGRIP1L):c.3321G>A (p.Gly1107=)
|
|
|
NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=)
|
|
|
NM_015272.5(RPGRIP1L):c.3339A>C (p.Ser1113=)
|
|
|
NM_015272.5(RPGRIP1L):c.3351C>T (p.Asn1117=)
|
|
|
NM_015272.5(RPGRIP1L):c.3363G>A (p.Pro1121=)
|
|
|
NM_015272.5(RPGRIP1L):c.336T>A (p.Ile112=)
|
|
|
NM_015272.5(RPGRIP1L):c.336T>C (p.Ile112=)
|
|
|
NM_015272.5(RPGRIP1L):c.3390C>T (p.Ala1130=)
|
|
|
NM_015272.5(RPGRIP1L):c.3393C>A (p.Ser1131=)
|
|
|
NM_015272.5(RPGRIP1L):c.3396A>G (p.Gln1132=)
|
|
|
NM_015272.5(RPGRIP1L):c.339G>A (p.Glu113=)
|
rs1970436686
|
|
NM_015272.5(RPGRIP1L):c.3423C>T (p.His1141=)
|
|
|
NM_015272.5(RPGRIP1L):c.3426C>T (p.His1142=)
|
|
|
NM_015272.5(RPGRIP1L):c.3432+13A>T
|
|
|
NM_015272.5(RPGRIP1L):c.3432+20G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3433-13G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3433-7T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3435A>G (p.Pro1145=)
|
|
|
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=)
|
rs750930363
|
|
NM_015272.5(RPGRIP1L):c.3453T>C (p.Ile1151=)
|
|
|
NM_015272.5(RPGRIP1L):c.3459C>T (p.Ile1153=)
|
rs1964562143
|
|
NM_015272.5(RPGRIP1L):c.3465T>A (p.Ala1155=)
|
|
|
NM_015272.5(RPGRIP1L):c.3492C>T (p.Thr1164=)
|
rs2150964666
|
|
NM_015272.5(RPGRIP1L):c.3514C>T (p.Leu1172=)
|
rs2150964607
|
|
NM_015272.5(RPGRIP1L):c.3516G>C (p.Leu1172=)
|
rs1388851938
|
|
NM_015272.5(RPGRIP1L):c.3528T>C (p.Cys1176=)
|
rs1449202929
|
|
NM_015272.5(RPGRIP1L):c.3529C>A (p.Arg1177=)
|
|
|
NM_015272.5(RPGRIP1L):c.3531A>T (p.Arg1177=)
|
rs2150964540
|
|
NM_015272.5(RPGRIP1L):c.3552A>G (p.Glu1184=)
|
|
|
NM_015272.5(RPGRIP1L):c.3555G>A (p.Glu1185=)
|
rs2150964438
|
|
NM_015272.5(RPGRIP1L):c.3561C>T (p.Pro1187=)
|
rs557855890
|
|
NM_015272.5(RPGRIP1L):c.3573A>C (p.Pro1191=)
|
rs2150964332
|
|
NM_015272.5(RPGRIP1L):c.357T>G (p.Val119=)
|
|
|
NM_015272.5(RPGRIP1L):c.3591G>A (p.Gln1197=)
|
rs1598241420
|
|
NM_015272.5(RPGRIP1L):c.3616+12T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3616+14A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3616+18G>T
|
rs1053189955
|
|
NM_015272.5(RPGRIP1L):c.3616+9G>C
|
|
|
NM_015272.5(RPGRIP1L):c.3617-12C>A
|
|
|
NM_015272.5(RPGRIP1L):c.3617-13T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3617-4A>G
|
rs771975767
|
|
NM_015272.5(RPGRIP1L):c.3617-5T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3617-6G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3617-6G>T
|
rs377099270
|
|
NM_015272.5(RPGRIP1L):c.3617-7G>T
|
rs1363436397
|
|
NM_015272.5(RPGRIP1L):c.3617-9T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3648A>G (p.Ala1216=)
|
rs2150938382
|
|
NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=)
|
|
|
NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=)
|
|
|
NM_015272.5(RPGRIP1L):c.3696T>C (p.Asn1232=)
|
rs2150938143
|
|
NM_015272.5(RPGRIP1L):c.3699A>G (p.Arg1233=)
|
|
|
NM_015272.5(RPGRIP1L):c.3701+13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3701+16C>A
|
|
|
NM_015272.5(RPGRIP1L):c.3701+19A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3701+20A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3701+9T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3702-14C>G
|
|
|
NM_015272.5(RPGRIP1L):c.3702-20T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3702-4C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3702-6T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3702-9C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3720C>T (p.Val1240=)
|
|
|
NM_015272.5(RPGRIP1L):c.3735G>A (p.Glu1245=)
|
|
|
NM_015272.5(RPGRIP1L):c.3748C>T (p.Leu1250=)
|
|
|
NM_015272.5(RPGRIP1L):c.3750G>A (p.Leu1250=)
|
|
|
NM_015272.5(RPGRIP1L):c.3753G>A (p.Glu1251=)
|
|
|
NM_015272.5(RPGRIP1L):c.3759G>A (p.Glu1253=)
|
|
|
NM_015272.5(RPGRIP1L):c.3771G>A (p.Val1257=)
|
rs1963627514
|
|
NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=)
|
|
|
NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=)
|
rs1963626162
|
|
NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=)
|
|
|
NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=)
|
|
|
NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=)
|
|
|
NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=)
|
|
|
NM_015272.5(RPGRIP1L):c.3835+12A>T
|
|
|
NM_015272.5(RPGRIP1L):c.3835+13G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3835+14T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3835+15G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3835+18G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3835+19C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3835+20_3835+34del
|
|
|
NM_015272.5(RPGRIP1L):c.3836-13C>G
|
rs886038620
|
|
NM_015272.5(RPGRIP1L):c.3836-16G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3836-18C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3836-19C>G
|
rs1276455735
|
|
NM_015272.5(RPGRIP1L):c.3836-19C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3836-21_3836-20del
|
|
|
NM_015272.5(RPGRIP1L):c.3836-4C>A
|
rs1233984342
|
|
NM_015272.5(RPGRIP1L):c.3836-5C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=)
|
rs2150909559
|
|
NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=)
|
rs754697392
|
|
NM_015272.5(RPGRIP1L):c.384C>G (p.Thr128=)
|
rs2151352728
|
|
NM_015272.5(RPGRIP1L):c.384C>T (p.Thr128=)
|
rs2151352728
|
|
NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=)
|
rs2150909430
|
|
NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=)
|
rs1963406998
|
|
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=)
|
rs915393428
|
|
NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=)
|
rs2150909277
|
|
NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)
|
|
|
NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=)
|
rs2151352510
|
|
NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=)
|
|
|
NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=)
|
|
|
NM_015272.5(RPGRIP1L):c.447A>C (p.Pro149=)
|
|
|
NM_015272.5(RPGRIP1L):c.447A>G (p.Pro149=)
|
|
|
NM_015272.5(RPGRIP1L):c.450C>T (p.Tyr150=)
|
rs748120890
|
|
NM_015272.5(RPGRIP1L):c.459A>G (p.Val153=)
|
rs2151351733
|
|
NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=)
|
|
|
NM_015272.5(RPGRIP1L):c.474C>T (p.Asn158=)
|
|
|
NM_015272.5(RPGRIP1L):c.477T>C (p.Thr159=)
|
|
|
NM_015272.5(RPGRIP1L):c.480G>T (p.Gly160=)
|
|
|
NM_015272.5(RPGRIP1L):c.483T>G (p.Arg161=)
|
rs2151351392
|
|
NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=)
|
|
|
NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=)
|
|
|
NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=)
|
rs2151351081
|
|
NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=)
|
rs2151350970
|
|
NM_015272.5(RPGRIP1L):c.516A>G (p.Glu172=)
|
rs2151350826
|
|
NM_015272.5(RPGRIP1L):c.519C>T (p.Cys173=)
|
|
|
NM_015272.5(RPGRIP1L):c.51A>G (p.Thr17=)
|
|
|
NM_015272.5(RPGRIP1L):c.525G>A (p.Arg175=)
|
rs2151350777
|
|
NM_015272.5(RPGRIP1L):c.529+13T>C
|
|
|
NM_015272.5(RPGRIP1L):c.529+14T>C
|
|
|
NM_015272.5(RPGRIP1L):c.529+15A>G
|
|
|
NM_015272.5(RPGRIP1L):c.529+16C>G
|
rs765320880
|
|
NM_015272.5(RPGRIP1L):c.529+19T>G
|
|
|
NM_015272.5(RPGRIP1L):c.529+7C>G
|
rs1970421028
|
|
NM_015272.5(RPGRIP1L):c.529+7C>T
|
rs1970421028
|
|
NM_015272.5(RPGRIP1L):c.530-10T>C
|
|
|
NM_015272.5(RPGRIP1L):c.530-13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.530-16A>G
|
|
|
NM_015272.5(RPGRIP1L):c.530-20T>C
|
|
|
NM_015272.5(RPGRIP1L):c.530-8G>C
|
|
|
NM_015272.5(RPGRIP1L):c.530-9T>C
|
|
|
NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=)
|
|
|
NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=)
|
|
|
NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=)
|
|
|
NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=)
|
|
|
NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=)
|
rs1970130340
|
|
NM_015272.5(RPGRIP1L):c.632+16T>C
|
|
|
NM_015272.5(RPGRIP1L):c.632+7G>A
|
rs746526374
|
|
NM_015272.5(RPGRIP1L):c.632+9_632+21del
|
rs2151325015
|
|
NM_015272.5(RPGRIP1L):c.633-14G>T
|
|
|
NM_015272.5(RPGRIP1L):c.633-15G>A
|
|
|
NM_015272.5(RPGRIP1L):c.633-19C>T
|
rs2151318621
|
|
NM_015272.5(RPGRIP1L):c.651A>C (p.Ser217=)
|
|
|
NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=)
|
|
|
NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=)
|
rs760486367
|
|
NM_015272.5(RPGRIP1L):c.678G>A (p.Glu226=)
|
rs1970027900
|
|
NM_015272.5(RPGRIP1L):c.699A>G (p.Lys233=)
|
rs2151318068
|
|
NM_015272.5(RPGRIP1L):c.6T>C (p.Ser2=)
|
rs2151417590
|
|
NM_015272.5(RPGRIP1L):c.702T>A (p.Thr234=)
|
|
|
NM_015272.5(RPGRIP1L):c.705G>A (p.Gln235=)
|
rs752815435
|
|
NM_015272.5(RPGRIP1L):c.714A>G (p.Arg238=)
|
rs2151317940
|
|
NM_015272.5(RPGRIP1L):c.726A>G (p.Glu242=)
|
rs2151317865
|
|
NM_015272.5(RPGRIP1L):c.735A>G (p.Leu245=)
|
rs2151317799
|
|
NM_015272.5(RPGRIP1L):c.744T>G (p.Leu248=)
|
|
|
NM_015272.5(RPGRIP1L):c.759G>A (p.Gln253=)
|
|
|
NM_015272.5(RPGRIP1L):c.776+17A>G
|
|
|
NM_015272.5(RPGRIP1L):c.776+19A>G
|
|
|
NM_015272.5(RPGRIP1L):c.776+8A>T
|
|
|
NM_015272.5(RPGRIP1L):c.777-12A>G
|
|
|
NM_015272.5(RPGRIP1L):c.777-17T>G
|
|
|
NM_015272.5(RPGRIP1L):c.777-20T>C
|
|
|
NM_015272.5(RPGRIP1L):c.777-6C>G
|
|
|
NM_015272.5(RPGRIP1L):c.777-7T>C
|
rs1969053313
|
|
NM_015272.5(RPGRIP1L):c.777-8C>T
|
|
|
NM_015272.5(RPGRIP1L):c.777-9A>T
|
rs1969053796
|
|
NM_015272.5(RPGRIP1L):c.780A>G (p.Ser260=)
|
rs201761685
|
|
NM_015272.5(RPGRIP1L):c.787C>A (p.Arg263=)
|
rs773626315
|
|
NM_015272.5(RPGRIP1L):c.789G>A (p.Arg263=)
|
|
|
NM_015272.5(RPGRIP1L):c.78G>T (p.Gly26=)
|
rs1276297529
|
|
NM_015272.5(RPGRIP1L):c.810G>A (p.Lys270=)
|
|
|
NM_015272.5(RPGRIP1L):c.813T>C (p.Leu271=)
|
rs2151259061
|
|
NM_015272.5(RPGRIP1L):c.816T>C (p.His272=)
|
|
|
NM_015272.5(RPGRIP1L):c.822G>A (p.Gln274=)
|
rs2151258993
|
|
NM_015272.5(RPGRIP1L):c.825A>G (p.Leu275=)
|
|
|
NM_015272.5(RPGRIP1L):c.85+12T>A
|
|
|
NM_015272.5(RPGRIP1L):c.85+12T>C
|
|
|
NM_015272.5(RPGRIP1L):c.85+17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.86-12G>A
|
|
|
NM_015272.5(RPGRIP1L):c.86-12_86-8del
|
|
|
NM_015272.5(RPGRIP1L):c.86-18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.86-7T>G
|
rs2151379974
|
|
NM_015272.5(RPGRIP1L):c.864A>G (p.Lys288=)
|
rs2151258723
|
|
NM_015272.5(RPGRIP1L):c.882+10T>C
|
rs1598379616
|
|
NM_015272.5(RPGRIP1L):c.882+17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.882+9A>G
|
|
|
NM_015272.5(RPGRIP1L):c.883-14T>C
|
|
|
NM_015272.5(RPGRIP1L):c.883-15C>A
|
|
|
NM_015272.5(RPGRIP1L):c.883-15_883-14del
|
|
|
NM_015272.5(RPGRIP1L):c.883-16T>C
|
|
|
NM_015272.5(RPGRIP1L):c.883-20A>G
|
|
|
NM_015272.5(RPGRIP1L):c.883-3del
|
|
|
NM_015272.5(RPGRIP1L):c.883-6T>C
|
|
|
NM_015272.5(RPGRIP1L):c.918G>A (p.Leu306=)
|
rs1968869903
|
|
NM_015272.5(RPGRIP1L):c.930G>A (p.Gly310=)
|
rs1968868729
|
|
NM_015272.5(RPGRIP1L):c.937T>C (p.Leu313=)
|
rs2151245638
|
|
NM_015272.5(RPGRIP1L):c.957G>A (p.Glu319=)
|
rs1968866974
|
|
NM_015272.5(RPGRIP1L):c.972C>T (p.Cys324=)
|
|
|
NM_015272.5(RPGRIP1L):c.975C>T (p.Cys325=)
|
|
|
NM_015272.5(RPGRIP1L):c.978T>C (p.Ser326=)
|
rs2151245344
|
|
NM_015272.5(RPGRIP1L):c.981T>C (p.Leu327=)
|
|
|
NM_015272.5(RPGRIP1L):c.991T>C (p.Leu331=)
|
|
|
NM_015272.5(RPGRIP1L):c.999T>A (p.Ser333=)
|
rs1022259426
|
|
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)
|
rs1022259426
|
|
NM_015272.5(RPGRIP1L):c.99A>G (p.Thr33=)
|
|
|
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
|
|
|
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=)
|
rs747888353
|
|
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=)
|
rs2097946417
|
|
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
|
|
|
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.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.114G>T (p.Leu38=)
|
rs1027956965
|
|
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.1203+18G>A
|
rs1353637039
|
|
NM_015631.6(TCTN3):c.1203+20G>A
|
|
|
NM_015631.6(TCTN3):c.1204-14C>T
|
|
|
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
|
|
|
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.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.1353T>C (p.His451=)
|
|
|
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
|
|
|
NM_015631.6(TCTN3):c.138C>T (p.Thr46=)
|
rs887435654
|
|
NM_015631.6(TCTN3):c.1440C>T (p.His480=)
|
rs753883610
|
|
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
|
|
|
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=)
|
rs2139731591
|
|
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
|
|
|
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
|
|
|
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=)
|
rs201367852
|
|
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.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.1650C>T (p.Thr550=)
|
rs2097923995
|
|
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
|
|
|
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
|
|
|
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
|
|
|
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=)
|
rs2097923946
|
|
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
|
|
|
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
|
|
|
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
|
|
|
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
|
|
|
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
|
|
|
NM_015631.6(TCTN3):c.18C>G (p.Leu6=)
|
rs879694012
|
|
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
|
|
|
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
|
|
|
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.256+11A>G
|
|
|
NM_015631.6(TCTN3):c.256+14T>C
|
|
|
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.27G>A (p.Leu9=)
|
rs973353630
|
|
NM_015631.6(TCTN3):c.27G>T (p.Leu9=)
|
rs973353630
|
|
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
|
|
|
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
|
|
|
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.435G>A (p.Pro145=)
|
rs769335959
|
|
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
|
|
|
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
|
|
|
NM_015631.6(TCTN3):c.489T>C (p.His163=)
|
|
|
NM_015631.6(TCTN3):c.500-14A>T
|
|
|
NM_015631.6(TCTN3):c.500-19del
|
|
|
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.57C>T (p.Gly19=)
|
|
|
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
|
|
|
NM_015631.6(TCTN3):c.615A>G (p.Pro205=)
|
rs1247615743
|
|
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.657C>T (p.Pro219=)
|
|
|
NM_015631.6(TCTN3):c.675C>T (p.Ser225=)
|
rs2097949322
|
|
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
|
|
|
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.770G>A (p.Arg257His)
|
rs758733887
|
|
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
|
|
|
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
|
|
|
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
|
|
|
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
|
|
|
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
|
|
|
NM_015631.6(TCTN3):c.847T>C (p.Leu283=)
|
rs2139748578
|
|
NM_015631.6(TCTN3):c.852+7G>A
|
rs1275344078
|
|
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.934T>C (p.Leu312=)
|
|
|
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala)
|
rs546805063
|
|
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
|
|
|
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.993T>C (p.Asn331=)
|
rs1273105227
|
|
NM_015681.6(B9D1):c.105G>A (p.Val35=)
|
|
|
NM_015681.6(B9D1):c.132+11C>T
|
rs2152276135
|
|
NM_015681.6(B9D1):c.132+14T>C
|
|
|
NM_015681.6(B9D1):c.162A>C (p.Thr54=)
|
|
|
NM_015681.6(B9D1):c.165C>T (p.Ser55=)
|
rs368753881
|
|
NM_015681.6(B9D1):c.189A>G (p.Ala63=)
|
|
|
NM_015681.6(B9D1):c.204C>T (p.Phe68=)
|
rs1006221533
|
|
NM_015681.6(B9D1):c.216C>G (p.Val72=)
|
|
|
NM_015681.6(B9D1):c.240C>T (p.Tyr80=)
|
|
|
NM_015681.6(B9D1):c.244+10dup
|
rs1340872247
|
|
NM_015681.6(B9D1):c.244+17C>T
|
|
|
NM_015681.6(B9D1):c.244+19T>G
|
|
|
NM_015681.6(B9D1):c.245-12del
|
|
|
NM_015681.6(B9D1):c.245-20C>T
|
|
|
NM_015681.6(B9D1):c.245-9C>T
|
|
|
NM_015681.6(B9D1):c.255C>T (p.Ile85=)
|
|
|
NM_015681.6(B9D1):c.261C>G (p.Leu87=)
|
|
|
NM_015681.6(B9D1):c.261C>T (p.Leu87=)
|
|
|
NM_015681.6(B9D1):c.264C>T (p.Ser88=)
|
|
|
NM_015681.6(B9D1):c.276A>C (p.Pro92=)
|
|
|
NM_015681.6(B9D1):c.285C>T (p.Phe95=)
|
|
|
NM_015681.6(B9D1):c.288G>A (p.Gly96=)
|
|
|
NM_015681.6(B9D1):c.303A>T (p.Arg101=)
|
rs1555607998
|
|
NM_015681.6(B9D1):c.30A>C (p.Leu10=)
|
rs781395275
|
|
NM_015681.6(B9D1):c.312G>A (p.Gly104=)
|
rs2152261896
|
|
NM_015681.6(B9D1):c.333A>T (p.Ser111=)
|
|
|
NM_015681.6(B9D1):c.341+15T>C
|
|
|
NM_015681.6(B9D1):c.341+19C>T
|
|
|
NM_015681.6(B9D1):c.342-9T>C
|
|
|
NM_015681.6(B9D1):c.404+10G>A
|
|
|
NM_015681.6(B9D1):c.404+11T>C
|
|
|
NM_015681.6(B9D1):c.405-13_405-11del
|
rs748543760
|
|
NM_015681.6(B9D1):c.405-19T>C
|
|
|
NM_015681.6(B9D1):c.405-9T>C
|
|
|
NM_015681.6(B9D1):c.426C>T (p.Pro142=)
|
|
|
NM_015681.6(B9D1):c.465C>A (p.Gly155=)
|
rs748971385
|
|
NM_015681.6(B9D1):c.472+13C>G
|
rs2152253339
|
|
NM_015681.6(B9D1):c.472+15C>G
|
|
|
NM_015681.6(B9D1):c.472+16C>T
|
rs375227607
|
|
NM_015681.6(B9D1):c.473-12T>C
|
rs1330715883
|
|
NM_015681.6(B9D1):c.473-13del
|
|
|
NM_015681.6(B9D1):c.473-15C>G
|
|
|
NM_015681.6(B9D1):c.480T>G (p.Arg160=)
|
|
|
NM_015681.6(B9D1):c.510C>G (p.Leu170=)
|
|
|
NM_015681.6(B9D1):c.510C>T (p.Leu170=)
|
|
|
NM_015681.6(B9D1):c.579G>C (p.Val193=)
|
|
|
NM_015681.6(B9D1):c.63+11G>A
|
rs2152278747
|
|
NM_015681.6(B9D1):c.63+16C>T
|
|
|
NM_015681.6(B9D1):c.63+20G>A
|
rs765907063
|
|
NM_015681.6(B9D1):c.63+20_63+43del
|
rs2152278609
|
|
NM_015681.6(B9D1):c.64-12_64-11del
|
|
|
NM_015681.6(B9D1):c.64-15_64-12del
|
|
|
NM_015681.6(B9D1):c.64-19_64-18del
|
rs2152276295
|
|
NM_015681.6(B9D1):c.64-5T>C
|
rs1910896502
|
|
NM_015681.6(B9D1):c.64-6T>C
|
|
|
NM_015681.6(B9D1):c.96C>T (p.Tyr32=)
|
rs2152276201
|
|
NM_015681.6(B9D1):c.9C>G (p.Thr3=)
|
rs749611797
|
|
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.129-19C>T
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.12C>T (p.Thr4=)
|
rs376500080
|
|
NM_016464.5(TMEM138):c.195C>T (p.Val65=)
|
rs2135158008
|
|
NM_016464.5(TMEM138):c.204T>C (p.Ala68=)
|
rs2135158047
|
|
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
|
|
|
NM_016464.5(TMEM138):c.231G>A (p.Lys77=)
|
rs2135158146
|
|
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
|
|
|
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.377-11C>T
|
rs749034092
|
|
NM_016464.5(TMEM138):c.377-19T>C
|
|
|
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
|
|
|
NM_016464.5(TMEM138):c.435C>T (p.His145=)
|
|
|
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
|
|
|
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
|
|
|
NM_017777.4(MKS1):c.1012T>C (p.Leu338=)
|
rs1968819648
|
|
NM_017777.4(MKS1):c.1024+16A>T
|
|
|
NM_017777.4(MKS1):c.1024+8A>G
|
|
|
NM_017777.4(MKS1):c.1025-18T>C
|
|
|
NM_017777.4(MKS1):c.1025-20A>G
|
|
|
NM_017777.4(MKS1):c.1026C>T (p.His342=)
|
|
|
NM_017777.4(MKS1):c.1041A>G (p.Ala347=)
|
|
|
NM_017777.4(MKS1):c.1050G>A (p.Gln350=)
|
|
|
NM_017777.4(MKS1):c.1062A>G (p.Val354=)
|
rs2143757521
|
|
NM_017777.4(MKS1):c.1065A>G (p.Thr355=)
|
rs2143757456
|
|
NM_017777.4(MKS1):c.1071C>T (p.Thr357=)
|
rs939716801
|
|
NM_017777.4(MKS1):c.1077C>T (p.Thr359=)
|
rs1968672310
|
|
NM_017777.4(MKS1):c.1092A>C (p.Ala364=)
|
rs1379453194
|
|
NM_017777.4(MKS1):c.1095+10A>G
|
|
|
NM_017777.4(MKS1):c.1095+14G>A
|
|
|
NM_017777.4(MKS1):c.1095+14G>T
|
rs2143756719
|
|
NM_017777.4(MKS1):c.1095+17C>T
|
|
|
NM_017777.4(MKS1):c.1096-10C>A
|
|
|
NM_017777.4(MKS1):c.1096-10C>G
|
rs766137727
|
|
NM_017777.4(MKS1):c.1096-19A>C
|
|
|
NM_017777.4(MKS1):c.1096-20T>A
|
|
|
NM_017777.4(MKS1):c.1096-20del
|
|
|
NM_017777.4(MKS1):c.1096-4A>G
|
rs1320626045
|
|
NM_017777.4(MKS1):c.1096-7T>C
|
rs2143753917
|
|
NM_017777.4(MKS1):c.1096-9T>C
|
rs2143753947
|
|
NM_017777.4(MKS1):c.1098C>T (p.Asp366=)
|
rs1374437999
|
|
NM_017777.4(MKS1):c.1113C>T (p.Phe371=)
|
|
|
NM_017777.4(MKS1):c.1116C>T (p.Ser372=)
|
|
|
NM_017777.4(MKS1):c.1122A>G (p.Pro374=)
|
|
|
NM_017777.4(MKS1):c.1128G>T (p.Thr376=)
|
rs369141016
|
|
NM_017777.4(MKS1):c.1137C>T (p.Ala379=)
|
|
|
NM_017777.4(MKS1):c.1140C>T (p.Phe380=)
|
|
|
NM_017777.4(MKS1):c.1149T>C (p.His383=)
|
|
|
NM_017777.4(MKS1):c.1158A>G (p.Glu386=)
|
rs797045705
|
|
NM_017777.4(MKS1):c.1165+18T>A
|
|
|
NM_017777.4(MKS1):c.1165+7del
|
|
|
NM_017777.4(MKS1):c.1165+9C>T
|
|
|
NM_017777.4(MKS1):c.1166-11C>T
|
|
|
NM_017777.4(MKS1):c.1166-16C>G
|
|
|
NM_017777.4(MKS1):c.1166-20G>A
|
|
|
NM_017777.4(MKS1):c.1166-5C>T
|
|
|
NM_017777.4(MKS1):c.1167T>C (p.Asp389=)
|
|
|
NM_017777.4(MKS1):c.1176G>C (p.Pro392=)
|
rs775169308
|
|
NM_017777.4(MKS1):c.1176G>T (p.Pro392=)
|
rs775169308
|
|
NM_017777.4(MKS1):c.1185T>C (p.Pro395=)
|
|
|
NM_017777.4(MKS1):c.1191C>G (p.Leu397=)
|
|
|
NM_017777.4(MKS1):c.1203C>A (p.Val401=)
|
|
|
NM_017777.4(MKS1):c.1206C>T (p.Leu402=)
|
rs202040080
|
|
NM_017777.4(MKS1):c.1210C>T (p.Leu404=)
|
|
|
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn)
|
rs372554696
|
|
NM_017777.4(MKS1):c.1224G>A (p.Gln408=)
|
rs1216137211
|
|
NM_017777.4(MKS1):c.1245T>C (p.Tyr415=)
|
rs1968622013
|
|
NM_017777.4(MKS1):c.1254G>A (p.Val418=)
|
rs2143750611
|
|
NM_017777.4(MKS1):c.1273+10C>T
|
|
|
NM_017777.4(MKS1):c.1273+13C>A
|
|
|
NM_017777.4(MKS1):c.1273+17G>A
|
|
|
NM_017777.4(MKS1):c.1273+17del
|
rs2143750048
|
|
NM_017777.4(MKS1):c.1273+18C>A
|
|
|
NM_017777.4(MKS1):c.1273+7G>T
|
rs569463908
|
|
NM_017777.4(MKS1):c.1274-10C>G
|
rs751088795
|
|
NM_017777.4(MKS1):c.1274-13T>A
|
|
|
NM_017777.4(MKS1):c.1274-14C>T
|
|
|
NM_017777.4(MKS1):c.1274-16C>T
|
|
|
NM_017777.4(MKS1):c.1274-18T>C
|
|
|
NM_017777.4(MKS1):c.1274-4G>T
|
rs377033778
|
|
NM_017777.4(MKS1):c.1274-7T>C
|
|
|
NM_017777.4(MKS1):c.1274-9dup
|
|
|
NM_017777.4(MKS1):c.1281C>T (p.His427=)
|
rs2143744776
|
|
NM_017777.4(MKS1):c.1284C>G (p.Thr428=)
|
|
|
NM_017777.4(MKS1):c.1299G>T (p.Thr433=)
|
rs749503564
|
|
NM_017777.4(MKS1):c.1305A>G (p.Arg435=)
|
rs1007814770
|
|
NM_017777.4(MKS1):c.1323G>A (p.Thr441=)
|
rs781038098
|
|
NM_017777.4(MKS1):c.1323G>C (p.Thr441=)
|
|
|
NM_017777.4(MKS1):c.1326G>A (p.Val442=)
|
rs569499621
|
|
NM_017777.4(MKS1):c.1341G>A (p.Arg447=)
|
rs1294257326
|
|
NM_017777.4(MKS1):c.1353C>A (p.Gly451=)
|
rs764549118
|
|
NM_017777.4(MKS1):c.1353C>G (p.Gly451=)
|
|
|
NM_017777.4(MKS1):c.135C>G (p.Ala45=)
|
|
|
NM_017777.4(MKS1):c.135C>T (p.Ala45=)
|
|
|
NM_017777.4(MKS1):c.1389G>T (p.Arg463=)
|
rs773269657
|
|
NM_017777.4(MKS1):c.1407+10G>A
|
|
|
NM_017777.4(MKS1):c.1407+19G>A
|
|
|
NM_017777.4(MKS1):c.1407+20_1407+25del
|
|
|
NM_017777.4(MKS1):c.1407+9T>A
|
rs2143742823
|
|
NM_017777.4(MKS1):c.1408-13T>C
|
rs2143738734
|
|
NM_017777.4(MKS1):c.1408-18C>A
|
rs2143738791
|
|
NM_017777.4(MKS1):c.1408-20G>C
|
|
|
NM_017777.4(MKS1):c.1408-21T>G
|
|
|
NM_017777.4(MKS1):c.1408-23G>A
|
|
|
NM_017777.4(MKS1):c.1408-29C>T
|
rs2143738957
|
|
NM_017777.4(MKS1):c.1408-35C>T
|
rs2143738994
|
|
NM_017777.4(MKS1):c.1408-9A>G
|
|
|
NM_017777.4(MKS1):c.1410G>A (p.Gly470=)
|
rs2143738492
|
|
NM_017777.4(MKS1):c.1413A>G (p.Glu471=)
|
rs1597975817
|
|
NM_017777.4(MKS1):c.1416C>G (p.Arg472=)
|
|
|
NM_017777.4(MKS1):c.141C>A (p.Leu47=)
|
rs1598006779
|
|
NM_017777.4(MKS1):c.141C>T (p.Leu47=)
|
rs1598006779
|
|
NM_017777.4(MKS1):c.1422C>T (p.Ser474=)
|
rs1597975737
|
|
NM_017777.4(MKS1):c.1425C>A (p.Arg475=)
|
rs2143738206
|
|
NM_017777.4(MKS1):c.1434C>T (p.Leu478=)
|
rs1463944569
|
|
NM_017777.4(MKS1):c.1446C>T (p.Thr482=)
|
rs2143737944
|
|
NM_017777.4(MKS1):c.1449A>G (p.Thr483=)
|
rs2143737889
|
|
NM_017777.4(MKS1):c.144G>C (p.Gly48=)
|
rs2143838897
|
|
NM_017777.4(MKS1):c.1458C>T (p.Val486=)
|
|
|
NM_017777.4(MKS1):c.1470G>A (p.Leu490=)
|
rs1968517645
|
|
NM_017777.4(MKS1):c.1476T>C (p.Cys492=)
|
|
|
NM_017777.4(MKS1):c.147G>A (p.Lys49=)
|
rs2143838854
|
|
NM_017777.4(MKS1):c.1490+15C>A
|
|
|
NM_017777.4(MKS1):c.1490+17T>A
|
|
|
NM_017777.4(MKS1):c.1490+18C>G
|
|
|
NM_017777.4(MKS1):c.1490+8A>T
|
|
|
NM_017777.4(MKS1):c.1490+9C>T
|
rs1555596804
|
|
NM_017777.4(MKS1):c.1491-10C>T
|
|
|
NM_017777.4(MKS1):c.1491-13G>A
|
rs2143736475
|
|
NM_017777.4(MKS1):c.1491-15C>G
|
|
|
NM_017777.4(MKS1):c.1491-17G>T
|
|
|
NM_017777.4(MKS1):c.1491-20T>C
|
|
|
NM_017777.4(MKS1):c.1491-4G>A
|
rs1555596758
|
|
NM_017777.4(MKS1):c.1491-4G>T
|
rs1555596758
|
|
NM_017777.4(MKS1):c.1491-7C>T
|
|
|
NM_017777.4(MKS1):c.1491-8C>A
|
|
|
NM_017777.4(MKS1):c.1497C>T (p.Phe499=)
|
|
|
NM_017777.4(MKS1):c.1515T>A (p.Leu505=)
|
|
|
NM_017777.4(MKS1):c.1528C>A (p.Arg510=)
|
|
|
NM_017777.4(MKS1):c.1530G>A (p.Arg510=)
|
|
|
NM_017777.4(MKS1):c.1557C>T (p.Phe519=)
|
rs1433060710
|
|
NM_017777.4(MKS1):c.1560C>T (p.Ser520=)
|
rs2143735433
|
|
NM_017777.4(MKS1):c.1575T>A (p.Ile525=)
|
|
|
NM_017777.4(MKS1):c.1578C>T (p.His526=)
|
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
NM_017777.4(MKS1):c.1588+15C>G
|
|
|
NM_017777.4(MKS1):c.1588+16C>A
|
|
|
NM_017777.4(MKS1):c.1588+16C>G
|
|
|
NM_017777.4(MKS1):c.1588+20T>C
|
rs2143734918
|
|
NM_017777.4(MKS1):c.1588+7C>A
|
|
|
NM_017777.4(MKS1):c.1588+7C>T
|
|
|
NM_017777.4(MKS1):c.1589-10T>A
|
rs2143734265
|
|
NM_017777.4(MKS1):c.1589-11T>C
|
|
|
NM_017777.4(MKS1):c.1589-15C>G
|
|
|
NM_017777.4(MKS1):c.1589-19A>G
|
|
|
NM_017777.4(MKS1):c.1589-19A>T
|
|
|
NM_017777.4(MKS1):c.1590G>A (p.Glu530=)
|
|
|
NM_017777.4(MKS1):c.159C>T (p.Asp53=)
|
rs907068935
|
|
NM_017777.4(MKS1):c.1600C>A (p.Arg534=)
|
rs772719574
|
|
NM_017777.4(MKS1):c.1605C>T (p.Ala535=)
|
rs35493987
|
|
NM_017777.4(MKS1):c.1608G>A (p.Arg536=)
|
rs2143733718
|
|
NM_017777.4(MKS1):c.165C>A (p.Ala55=)
|
|
|
NM_017777.4(MKS1):c.1671G>A (p.Leu557=)
|
rs11548967
|
|
NM_017777.4(MKS1):c.1671G>T (p.Leu557=)
|
rs11548967
|
|
NM_017777.4(MKS1):c.1677C>T (p.Ser559=)
|
rs921675582
|
|
NM_017777.4(MKS1):c.177T>G (p.Pro59=)
|
rs2143838526
|
|
NM_017777.4(MKS1):c.190+11C>G
|
|
|
NM_017777.4(MKS1):c.190+11C>T
|
rs529293609
|
|
NM_017777.4(MKS1):c.190+15G>T
|
|
|
NM_017777.4(MKS1):c.190+20T>C
|
|
|
NM_017777.4(MKS1):c.190+8dup
|
rs766767996
|
|
NM_017777.4(MKS1):c.191-10G>T
|
rs756533204
|
|
NM_017777.4(MKS1):c.191-17C>T
|
|
|
NM_017777.4(MKS1):c.191-19C>G
|
|
|
NM_017777.4(MKS1):c.191-9T>C
|
rs2143823943
|
|
NM_017777.4(MKS1):c.201C>G (p.Arg67=)
|
rs2143823724
|
|
NM_017777.4(MKS1):c.204A>G (p.Pro68=)
|
|
|
NM_017777.4(MKS1):c.207G>A (p.Glu69=)
|
rs1969242335
|
|
NM_017777.4(MKS1):c.213C>T (p.Asp71=)
|
rs142813109
|
|
NM_017777.4(MKS1):c.219G>A (p.Glu73=)
|
|
|
NM_017777.4(MKS1):c.222G>A (p.Glu74=)
|
|
|
NM_017777.4(MKS1):c.225G>A (p.Glu75=)
|
rs775351056
|
|
NM_017777.4(MKS1):c.237G>A (p.Gly79=)
|
rs2143823165
|
|
NM_017777.4(MKS1):c.252C>T (p.Leu84=)
|
rs969699321
|
|
NM_017777.4(MKS1):c.261+10T>C
|
rs781466261
|
|
NM_017777.4(MKS1):c.261+10T>G
|
rs781466261
|
|
NM_017777.4(MKS1):c.261+15C>G
|
|
|
NM_017777.4(MKS1):c.261+16_261+17del
|
|
|
NM_017777.4(MKS1):c.262-10G>A
|
rs772852025
|
|
NM_017777.4(MKS1):c.262-10G>C
|
|
|
NM_017777.4(MKS1):c.262-12T>C
|
|
|
NM_017777.4(MKS1):c.262-13A>G
|
|
|
NM_017777.4(MKS1):c.262-16C>T
|
|
|
NM_017777.4(MKS1):c.262-19T>C
|
|
|
NM_017777.4(MKS1):c.262-7_262-6del
|
rs2143820463
|
|
NM_017777.4(MKS1):c.276G>A (p.Leu92=)
|
|
|
NM_017777.4(MKS1):c.282A>G (p.Gln94=)
|
|
|
NM_017777.4(MKS1):c.285T>C (p.Asn95=)
|
|
|
NM_017777.4(MKS1):c.291A>G (p.Thr97=)
|
rs1597999676
|
|
NM_017777.4(MKS1):c.30C>G (p.Thr10=)
|
rs576239597
|
|
NM_017777.4(MKS1):c.318G>A (p.Gln106=)
|
|
|
NM_017777.4(MKS1):c.324T>C (p.Arg108=)
|
rs1007384458
|
|
NM_017777.4(MKS1):c.351G>C (p.Ser117=)
|
rs370781583
|
|
NM_017777.4(MKS1):c.354T>G (p.Gly118=)
|
rs1969193189
|
|
NM_017777.4(MKS1):c.369A>G (p.Arg123=)
|
rs997559994
|
|
NM_017777.4(MKS1):c.381C>G (p.Thr127=)
|
|
|
NM_017777.4(MKS1):c.390C>T (p.Asp130=)
|
|
|
NM_017777.4(MKS1):c.39A>G (p.Ala13=)
|
|
|
NM_017777.4(MKS1):c.405C>A (p.Thr135=)
|
|
|
NM_017777.4(MKS1):c.411G>A (p.Leu137=)
|
|
|
NM_017777.4(MKS1):c.417+10T>C
|
rs780977789
|
|
NM_017777.4(MKS1):c.417+13C>T
|
|
|
NM_017777.4(MKS1):c.417+15A>G
|
|
|
NM_017777.4(MKS1):c.418-4C>G
|
rs2143809915
|
|
NM_017777.4(MKS1):c.427A>C (p.Arg143=)
|
|
|
NM_017777.4(MKS1):c.438T>C (p.Thr146=)
|
|
|
NM_017777.4(MKS1):c.453G>A (p.Val151=)
|
|
|
NM_017777.4(MKS1):c.45T>C (p.Tyr15=)
|
|
|
NM_017777.4(MKS1):c.468C>G (p.Val156=)
|
rs199684837
|
|
NM_017777.4(MKS1):c.483T>C (p.Asn161=)
|
rs1472188901
|
|
NM_017777.4(MKS1):c.492T>A (p.Arg164=)
|
rs2143808753
|
|
NM_017777.4(MKS1):c.498G>A (p.Arg166=)
|
rs778956664
|
|
NM_017777.4(MKS1):c.513G>C (p.Gly171=)
|
rs2143808375
|
|
NM_017777.4(MKS1):c.515+13A>G
|
|
|
NM_017777.4(MKS1):c.515+13A>T
|
|
|
NM_017777.4(MKS1):c.515+15G>T
|
|
|
NM_017777.4(MKS1):c.515+19T>C
|
|
|
NM_017777.4(MKS1):c.515+9G>C
|
rs752279060
|
|
NM_017777.4(MKS1):c.515+9G>T
|
|
|
NM_017777.4(MKS1):c.516-5C>A
|
|
|
NM_017777.4(MKS1):c.516-9G>A
|
rs1969068781
|
|
NM_017777.4(MKS1):c.519G>A (p.Glu173=)
|
rs901476301
|
|
NM_017777.4(MKS1):c.522C>A (p.Gly174=)
|
|
|
NM_017777.4(MKS1):c.528C>T (p.Ile176=)
|
rs2143805374
|
|
NM_017777.4(MKS1):c.52C>A (p.Arg18=)
|
rs557896607
|
|
NM_017777.4(MKS1):c.546C>T (p.Val182=)
|
rs1969065058
|
|
NM_017777.4(MKS1):c.555G>A (p.Glu185=)
|
rs2143804915
|
|
NM_017777.4(MKS1):c.564A>G (p.Glu188=)
|
rs2143804818
|
|
NM_017777.4(MKS1):c.567G>A (p.Glu189=)
|
|
|
NM_017777.4(MKS1):c.573C>G (p.Val191=)
|
rs1247479841
|
|
NM_017777.4(MKS1):c.582C>T (p.Asn194=)
|
rs940590057
|
|
NM_017777.4(MKS1):c.600T>G (p.Pro200=)
|
|
|
NM_017777.4(MKS1):c.60C>A (p.Pro20=)
|
|
|
NM_017777.4(MKS1):c.618C>A (p.Ile206=)
|
|
|
NM_017777.4(MKS1):c.624A>G (p.Ala208=)
|
|
|
NM_017777.4(MKS1):c.644+15T>A
|
rs2143803705
|
|
NM_017777.4(MKS1):c.644+18C>T
|
|
|
NM_017777.4(MKS1):c.645-12_645-10del
|
rs2143800934
|
|
NM_017777.4(MKS1):c.645-7T>C
|
|
|
NM_017777.4(MKS1):c.657G>A (p.Lys219=)
|
|
|
NM_017777.4(MKS1):c.663T>C (p.Tyr221=)
|
rs1597993685
|
|
NM_017777.4(MKS1):c.675G>A (p.Leu225=)
|
rs1969025949
|
|
NM_017777.4(MKS1):c.693T>C (p.Asp231=)
|
rs777474025
|
|
NM_017777.4(MKS1):c.69C>T (p.Asn23=)
|
|
|
NM_017777.4(MKS1):c.705G>T (p.Val235=)
|
|
|
NM_017777.4(MKS1):c.726C>T (p.Phe242=)
|
|
|
NM_017777.4(MKS1):c.729G>C (p.Thr243=)
|
rs373491923
|
|
NM_017777.4(MKS1):c.729G>T (p.Thr243=)
|
rs373491923
|
|
NM_017777.4(MKS1):c.741A>C (p.Gly247=)
|
|
|
NM_017777.4(MKS1):c.744C>T (p.Pro248=)
|
|
|
NM_017777.4(MKS1):c.749+11G>A
|
|
|
NM_017777.4(MKS1):c.749+14G>T
|
|
|
NM_017777.4(MKS1):c.749+18G>C
|
|
|
NM_017777.4(MKS1):c.749+20G>T
|
|
|
NM_017777.4(MKS1):c.749+9A>C
|
rs2143799781
|
|
NM_017777.4(MKS1):c.750-14T>C
|
|
|
NM_017777.4(MKS1):c.750-15G>C
|
|
|
NM_017777.4(MKS1):c.750-18G>A
|
|
|
NM_017777.4(MKS1):c.750-5T>C
|
|
|
NM_017777.4(MKS1):c.750-7C>T
|
rs2143795530
|
|
NM_017777.4(MKS1):c.750-8C>A
|
rs1323177668
|
|
NM_017777.4(MKS1):c.750-9A>C
|
rs2143795587
|
|
NM_017777.4(MKS1):c.756G>A (p.Glu252=)
|
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
NM_017777.4(MKS1):c.789T>C (p.Tyr263=)
|
rs1968972848
|
|
NM_017777.4(MKS1):c.792G>T (p.Thr264=)
|
rs1272905094
|
|
NM_017777.4(MKS1):c.795C>T (p.Ile265=)
|
rs750597104
|
|
NM_017777.4(MKS1):c.798C>T (p.Asp266=)
|
rs1968971741
|
|
NM_017777.4(MKS1):c.80+10C>T
|
|
|
NM_017777.4(MKS1):c.80+11C>G
|
|
|
NM_017777.4(MKS1):c.80+11del
|
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.80+16C>T
|
|
|
NM_017777.4(MKS1):c.80+17A>G
|
|
|
NM_017777.4(MKS1):c.80+7G>T
|
|
|
NM_017777.4(MKS1):c.801T>C (p.Asn267=)
|
rs753798549
|
|
NM_017777.4(MKS1):c.804T>C (p.Val268=)
|
rs764069453
|
|
NM_017777.4(MKS1):c.81-11T>C
|
|
|
NM_017777.4(MKS1):c.81-13C>T
|
|
|
NM_017777.4(MKS1):c.81-14G>A
|
|
|
NM_017777.4(MKS1):c.81-14del
|
|
|
NM_017777.4(MKS1):c.81-5G>T
|
rs1969411105
|
|
NM_017777.4(MKS1):c.81-9T>C
|
|
|
NM_017777.4(MKS1):c.825G>A (p.Glu275=)
|
rs921504865
|
|
NM_017777.4(MKS1):c.831G>A (p.Glu277=)
|
rs2143793926
|
|
NM_017777.4(MKS1):c.840A>G (p.Glu280=)
|
rs1406421081
|
|
NM_017777.4(MKS1):c.843G>T (p.Arg281=)
|
|
|
NM_017777.4(MKS1):c.84C>T (p.Val28=)
|
|
|
NM_017777.4(MKS1):c.858+17T>G
|
|
|
NM_017777.4(MKS1):c.858+7G>C
|
rs918270665
|
|
NM_017777.4(MKS1):c.858+7G>T
|
rs918270665
|
|
NM_017777.4(MKS1):c.858+9A>T
|
|
|
NM_017777.4(MKS1):c.859-19GTTTG[3]
|
|
|
NM_017777.4(MKS1):c.859-5C>T
|
|
|
NM_017777.4(MKS1):c.870G>T (p.Arg290=)
|
rs769489826
|
|
NM_017777.4(MKS1):c.876G>A (p.Lys292=)
|
|
|
NM_017777.4(MKS1):c.882T>C (p.Tyr294=)
|
|
|
NM_017777.4(MKS1):c.900C>T (p.Gly300=)
|
|
|
NM_017777.4(MKS1):c.915+19T>C
|
|
|
NM_017777.4(MKS1):c.915+20G>A
|
|
|
NM_017777.4(MKS1):c.915+8G>T
|
|
|
NM_017777.4(MKS1):c.916-16C>T
|
|
|
NM_017777.4(MKS1):c.916-20C>T
|
|
|
NM_017777.4(MKS1):c.916-6C>T
|
rs765028851
|
|
NM_017777.4(MKS1):c.916-7A>C
|
rs2143778235
|
|
NM_017777.4(MKS1):c.918T>A (p.Thr306=)
|
|
|
NM_017777.4(MKS1):c.918T>G (p.Thr306=)
|
|
|
NM_017777.4(MKS1):c.921C>G (p.Val307=)
|
|
|
NM_017777.4(MKS1):c.948T>C (p.Asn316=)
|
|
|
NM_017777.4(MKS1):c.958+13C>G
|
|
|
NM_017777.4(MKS1):c.958+14T>C
|
|
|
NM_017777.4(MKS1):c.958+18A>G
|
|
|
NM_017777.4(MKS1):c.958+7G>T
|
|
|
NM_017777.4(MKS1):c.958+8T>A
|
|
|
NM_017777.4(MKS1):c.959-10TC[2]
|
|
|
NM_017777.4(MKS1):c.959-16del
|
|
|
NM_017777.4(MKS1):c.959-20C>T
|
|
|
NM_017777.4(MKS1):c.959-7C>G
|
|
|
NM_017777.4(MKS1):c.959-8T>C
|
rs763444295
|
|
NM_017777.4(MKS1):c.959-9C>A
|
rs538316917
|
|
NM_017777.4(MKS1):c.959-9C>G
|
rs538316917
|
|
NM_017777.4(MKS1):c.981T>C (p.Tyr327=)
|
|
|
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
|
rs781793746
|
|
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.1062C>T (p.Ala354=)
|
rs782552317
|
|
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
|
rs782746850
|
|
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
|
|
|
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.162A>G (p.Lys54=)
|
|
|
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
|
|
|
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.258G>A (p.Glu86=)
|
rs1309424611
|
|
NM_018718.3(CEP41):c.277+10del
|
rs782128369
|
|
NM_018718.3(CEP41):c.277+17G>A
|
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-9A>C
|
|
|
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
|
|
|
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.34-14del
|
|
|
NM_018718.3(CEP41):c.34-17A>G
|
|
|
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
|
|
|
NM_018718.3(CEP41):c.411A>G (p.Ser137=)
|
rs1796949890
|
|
NM_018718.3(CEP41):c.423-4G>T
|
rs1554417330
|
|
NM_018718.3(CEP41):c.423-9C>G
|
|
|
NM_018718.3(CEP41):c.438T>G (p.Val146=)
|
|
|
NM_018718.3(CEP41):c.468G>A (p.Val156=)
|
rs1796891578
|
|
NM_018718.3(CEP41):c.513C>T (p.Cys171=)
|
rs922629262
|
|
NM_018718.3(CEP41):c.574+7G>C
|
|
|
NM_018718.3(CEP41):c.575-19C>T
|
|
|
NM_018718.3(CEP41):c.643-16del
|
rs2117556026
|
|
NM_018718.3(CEP41):c.643-7C>G
|
|
|
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
|
|
|
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
|
rs149052906
|
|
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.831C>G (p.Ala277=)
|
|
|
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
|
rs782120276
|
|
NM_018718.3(CEP41):c.867C>T (p.Pro289=)
|
rs782385841
|
|
NM_018718.3(CEP41):c.954A>G (p.Gln318=)
|
rs2117551629
|
|
NM_018718.3(CEP41):c.97+12T>G
|
|
|
NM_018718.3(CEP41):c.973+16C>A
|
rs2117551370
|
|
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.98-20A>G
|
|
|
NM_018718.3(CEP41):c.98-8C>A
|
rs782606521
|
|
NM_018718.3(CEP41):c.98-8C>T
|
|
|
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
|
|
|
NM_019892.6(INPP5E):c.1011G>A (p.Gly337=)
|
|
|
NM_019892.6(INPP5E):c.1017G>A (p.Gln339=)
|
rs2131610330
|
|
NM_019892.6(INPP5E):c.1034+16G>A
|
|
|
NM_019892.6(INPP5E):c.1034+7C>T
|
|
|
NM_019892.6(INPP5E):c.1035-18G>A
|
|
|
NM_019892.6(INPP5E):c.1035-19C>T
|
|
|
NM_019892.6(INPP5E):c.1035-8_1035-6del
|
rs1226334444
|
|
NM_019892.6(INPP5E):c.1053T>C (p.Arg351=)
|
|
|
NM_019892.6(INPP5E):c.1062G>A (p.Glu354=)
|
rs2131609357
|
|
NM_019892.6(INPP5E):c.1065G>A (p.Thr355=)
|
rs374089192
|
|
NM_019892.6(INPP5E):c.1065G>C (p.Thr355=)
|
rs374089192
|
|
NM_019892.6(INPP5E):c.1071C>A (p.Gly357=)
|
rs1264559701
|
|
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
|
rs746782404
|
|
NM_019892.6(INPP5E):c.1074G>T (p.Pro358=)
|
rs746782404
|
|
NM_019892.6(INPP5E):c.1080T>C (p.Tyr360=)
|
|
|
NM_019892.6(INPP5E):c.1084C>T (p.Leu362=)
|
|
|
NM_019892.6(INPP5E):c.108G>C (p.Ala36=)
|
|
|
NM_019892.6(INPP5E):c.1122G>A (p.Ser374=)
|
|
|
NM_019892.6(INPP5E):c.1146C>A (p.Ile382=)
|
|
|
NM_019892.6(INPP5E):c.114C>G (p.Ser38=)
|
rs2131620129
|
|
NM_019892.6(INPP5E):c.1155C>T (p.Cys385=)
|
|
|
NM_019892.6(INPP5E):c.1159+7G>A
|
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGTGGCTGGAGGGGTGGGT
|
rs1554793113
|
|
NM_019892.6(INPP5E):c.1159+8C>A
|
|
|
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG
|
rs747240016
|
|
NM_019892.6(INPP5E):c.1159+9_1159+11del
|
|
|
NM_019892.6(INPP5E):c.1160-16G>A
|
|
|
NM_019892.6(INPP5E):c.1179G>C (p.Val393=)
|
|
|
NM_019892.6(INPP5E):c.1206G>A (p.Lys402=)
|
|
|
NM_019892.6(INPP5E):c.1215G>A (p.Gly405=)
|
|
|
NM_019892.6(INPP5E):c.1221G>A (p.Leu407=)
|
|
|
NM_019892.6(INPP5E):c.1257C>T (p.Leu419=)
|
|
|
NM_019892.6(INPP5E):c.1263C>T (p.Ile421=)
|
|
|
NM_019892.6(INPP5E):c.1279+13G>A
|
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
NM_019892.6(INPP5E):c.1279+18C>T
|
|
|
NM_019892.6(INPP5E):c.1279+19G>C
|
|
|
NM_019892.6(INPP5E):c.1280-4A>G
|
|
|
NM_019892.6(INPP5E):c.1280-8T>A
|
|
|
NM_019892.6(INPP5E):c.1281A>G (p.Ser427=)
|
rs2131608043
|
|
NM_019892.6(INPP5E):c.129G>C (p.Pro43=)
|
|
|
NM_019892.6(INPP5E):c.12G>A (p.Lys4=)
|
|
|
NM_019892.6(INPP5E):c.1350A>G (p.Arg450=)
|
|
|
NM_019892.6(INPP5E):c.1388-4G>A
|
rs754727297
|
|
NM_019892.6(INPP5E):c.1388-4G>T
|
rs754727297
|
|
NM_019892.6(INPP5E):c.1401C>T (p.Thr467=)
|
rs1835718113
|
|
NM_019892.6(INPP5E):c.1428A>G (p.Gly476=)
|
|
|
NM_019892.6(INPP5E):c.1473C>T (p.Ala491=)
|
|
|
NM_019892.6(INPP5E):c.147G>A (p.Ala49=)
|
rs2131620018
|
|
NM_019892.6(INPP5E):c.1509G>A (p.Ala503=)
|
|
|
NM_019892.6(INPP5E):c.1509G>C (p.Ala503=)
|
rs770801327
|
|
NM_019892.6(INPP5E):c.1543C>A (p.Arg515=)
|
rs13297509
|
|
NM_019892.6(INPP5E):c.1549+12G>C
|
rs764753548
|
|
NM_019892.6(INPP5E):c.1549+15G>A
|
|
|
NM_019892.6(INPP5E):c.1549+15G>T
|
|
|
NM_019892.6(INPP5E):c.1549+17_1549+141del
|
rs2131606546
|
|
NM_019892.6(INPP5E):c.1549+17_1550-149del
|
rs2131606081
|
|
NM_019892.6(INPP5E):c.1550-13C>T
|
|
|
NM_019892.6(INPP5E):c.1578G>A (p.Pro526=)
|
|
|
NM_019892.6(INPP5E):c.1581C>T (p.Asp527=)
|
|
|
NM_019892.6(INPP5E):c.1587C>T (p.His529=)
|
|
|
NM_019892.6(INPP5E):c.1590C>T (p.Phe530=)
|
|
|
NM_019892.6(INPP5E):c.1602C>T (p.Tyr534=)
|
|
|
NM_019892.6(INPP5E):c.1605G>A (p.Lys535=)
|
|
|
NM_019892.6(INPP5E):c.1629C>T (p.Tyr543=)
|
rs753398503
|
|
NM_019892.6(INPP5E):c.1635C>T (p.Ser545=)
|
|
|
NM_019892.6(INPP5E):c.1653G>A (p.Thr551=)
|
|
|
NM_019892.6(INPP5E):c.1665+15C>G
|
|
|
NM_019892.6(INPP5E):c.1665+16C>G
|
|
|
NM_019892.6(INPP5E):c.1665+16C>T
|
|
|
NM_019892.6(INPP5E):c.1665+7C>G
|
rs2131605609
|
|
NM_019892.6(INPP5E):c.1666-19C>A
|
rs374671289
|
|
NM_019892.6(INPP5E):c.1671C>A (p.Arg557=)
|
rs776792436
|
|
NM_019892.6(INPP5E):c.1689C>A (p.Arg563=)
|
rs2131604929
|
|
NM_019892.6(INPP5E):c.1731C>T (p.Pro577=)
|
|
|
NM_019892.6(INPP5E):c.1743G>C (p.Thr581=)
|
rs368026621
|
|
NM_019892.6(INPP5E):c.1755C>A (p.Arg585=)
|
rs2131604784
|
|
NM_019892.6(INPP5E):c.1767C>T (p.Gly589=)
|
rs1835669405
|
|
NM_019892.6(INPP5E):c.1770C>G (p.Leu590=)
|
|
|
NM_019892.6(INPP5E):c.1802+10C>T
|
|
|
NM_019892.6(INPP5E):c.1803-17C>T
|
|
|
NM_019892.6(INPP5E):c.1803-19G>A
|
|
|
NM_019892.6(INPP5E):c.1803-19G>T
|
|
|
NM_019892.6(INPP5E):c.1803-40_1803-7dup
|
rs1329220171
|
|
NM_019892.6(INPP5E):c.1857A>G (p.Lys619=)
|
rs1200807419
|
|
NM_019892.6(INPP5E):c.1866T>A (p.Ile622=)
|
|
|
NM_019892.6(INPP5E):c.1869G>A (p.Ser623=)
|
|
|
NM_019892.6(INPP5E):c.1887G>A (p.Gln629=)
|
|
|
NM_019892.6(INPP5E):c.1893A>C (p.Ala631=)
|
rs1835654114
|
|
NM_019892.6(INPP5E):c.1894C>T (p.Leu632=)
|
|
|
NM_019892.6(INPP5E):c.189G>A (p.Pro63=)
|
|
|
NM_019892.6(INPP5E):c.192A>C (p.Pro64=)
|
|
|
NM_019892.6(INPP5E):c.210C>T (p.Ile70=)
|
rs1444322599
|
|
NM_019892.6(INPP5E):c.213C>T (p.Ala71=)
|
|
|
NM_019892.6(INPP5E):c.225C>G (p.Pro75=)
|
rs767451997
|
|
NM_019892.6(INPP5E):c.255C>T (p.Ser85=)
|
rs776746807
|
|
NM_019892.6(INPP5E):c.280A>C (p.Arg94=)
|
rs1835923579
|
|
NM_019892.6(INPP5E):c.321T>C (p.Asn107=)
|
|
|
NM_019892.6(INPP5E):c.324G>A (p.Gly108=)
|
|
|
NM_019892.6(INPP5E):c.354C>T (p.Ser118=)
|
|
|
NM_019892.6(INPP5E):c.372C>G (p.Pro124=)
|
|
|
NM_019892.6(INPP5E):c.408C>T (p.Ser136=)
|
|
|
NM_019892.6(INPP5E):c.462G>A (p.Pro154=)
|
|
|
NM_019892.6(INPP5E):c.465C>T (p.Ser155=)
|
|
|
NM_019892.6(INPP5E):c.546G>A (p.Ser182=)
|
|
|
NM_019892.6(INPP5E):c.591G>A (p.Leu197=)
|
rs2131618177
|
|
NM_019892.6(INPP5E):c.597G>A (p.Leu199=)
|
|
|
NM_019892.6(INPP5E):c.616C>T (p.Leu206=)
|
|
|
NM_019892.6(INPP5E):c.624A>C (p.Thr208=)
|
|
|
NM_019892.6(INPP5E):c.624A>G (p.Thr208=)
|
|
|
NM_019892.6(INPP5E):c.627A>G (p.Ala209=)
|
|
|
NM_019892.6(INPP5E):c.669G>A (p.Ala223=)
|
|
|
NM_019892.6(INPP5E):c.696C>T (p.Ser232=)
|
|
|
NM_019892.6(INPP5E):c.6G>C (p.Pro2=)
|
rs761850172
|
|
NM_019892.6(INPP5E):c.726C>G (p.Pro242=)
|
rs766781844
|
|
NM_019892.6(INPP5E):c.729G>A (p.Leu243=)
|
|
|
NM_019892.6(INPP5E):c.777C>T (p.Leu259=)
|
|
|
NM_019892.6(INPP5E):c.783G>A (p.Ala261=)
|
|
|
NM_019892.6(INPP5E):c.807C>T (p.Arg269=)
|
|
|
NM_019892.6(INPP5E):c.812+19G>A
|
|
|
NM_019892.6(INPP5E):c.813-16G>A
|
rs2131611492
|
|
NM_019892.6(INPP5E):c.813-7G>A
|
|
|
NM_019892.6(INPP5E):c.813-9C>T
|
rs771055995
|
|
NM_019892.6(INPP5E):c.825G>A (p.Glu275=)
|
rs2131611437
|
|
NM_019892.6(INPP5E):c.885A>G (p.Pro295=)
|
rs2131611346
|
|
NM_019892.6(INPP5E):c.888C>T (p.Asp296=)
|
|
|
NM_019892.6(INPP5E):c.912C>T (p.Ala304=)
|
rs2131611280
|
|
NM_019892.6(INPP5E):c.915C>T (p.Thr305=)
|
|
|
NM_019892.6(INPP5E):c.927G>A (p.Gln309=)
|
|
|
NM_019892.6(INPP5E):c.936+11G>A
|
|
|
NM_019892.6(INPP5E):c.936+13G>T
|
|
|
NM_019892.6(INPP5E):c.936+16_936+25del
|
|
|
NM_019892.6(INPP5E):c.937-11C>T
|
|
|
NM_019892.6(INPP5E):c.937-15G>A
|
rs1297434272
|
|
NM_019892.6(INPP5E):c.939G>A (p.Glu313=)
|
|
|
NM_019892.6(INPP5E):c.966G>A (p.Leu322=)
|
rs2131610464
|
|
NM_019892.6(INPP5E):c.975C>G (p.Ala325=)
|
rs143258290
|
|
NM_019892.6(INPP5E):c.975C>T (p.Ala325=)
|
rs143258290
|
|
NM_019892.6(INPP5E):c.999G>C (p.Leu333=)
|
|
|
NM_024809.5(TCTN2):c.1008G>A (p.Ala336=)
|
|
|
NM_024809.5(TCTN2):c.1033+13T>A
|
rs368148687
|
|
NM_024809.5(TCTN2):c.1033+18G>C
|
|
|
NM_024809.5(TCTN2):c.1034-12T>C
|
|
|
NM_024809.5(TCTN2):c.1083A>G (p.Lys361=)
|
|
|
NM_024809.5(TCTN2):c.1099+19T>A
|
|
|
NM_024809.5(TCTN2):c.1099+8del
|
|
|
NM_024809.5(TCTN2):c.1100-18A>G
|
|
|
NM_024809.5(TCTN2):c.1107T>A (p.Pro369=)
|
|
|
NM_024809.5(TCTN2):c.1116C>T (p.Asn372=)
|
|
|
NM_024809.5(TCTN2):c.1179C>A (p.Thr393=)
|
|
|
NM_024809.5(TCTN2):c.1209G>A (p.Arg403=)
|
|
|
NM_024809.5(TCTN2):c.1234+7_1234+8del
|
|
|
NM_024809.5(TCTN2):c.1235-5T>C
|
|
|
NM_024809.5(TCTN2):c.1245A>G (p.Thr415=)
|
|
|
NM_024809.5(TCTN2):c.1248G>A (p.Gln416=)
|
rs766355400
|
|
NM_024809.5(TCTN2):c.1293A>G (p.Glu431=)
|
|
|
NM_024809.5(TCTN2):c.1312+14_1312+15del
|
|
|
NM_024809.5(TCTN2):c.1312+17C>T
|
|
|
NM_024809.5(TCTN2):c.1313-14T>C
|
|
|
NM_024809.5(TCTN2):c.1371G>A (p.Thr457=)
|
|
|
NM_024809.5(TCTN2):c.1389A>G (p.Gln463=)
|
|
|
NM_024809.5(TCTN2):c.1393+8G>A
|
|
|
NM_024809.5(TCTN2):c.1394-5T>C
|
|
|
NM_024809.5(TCTN2):c.1449T>C (p.Asn483=)
|
|
|
NM_024809.5(TCTN2):c.147C>A (p.Thr49=)
|
|
|
NM_024809.5(TCTN2):c.147C>T (p.Thr49=)
|
|
|
NM_024809.5(TCTN2):c.1505+13T>C
|
rs2135849825
|
|
NM_024809.5(TCTN2):c.1505+15G>A
|
|
|
NM_024809.5(TCTN2):c.1506-20A>C
|
rs1011092991
|
|
NM_024809.5(TCTN2):c.1545G>A (p.Ala515=)
|
|
|
NM_024809.5(TCTN2):c.1551C>T (p.His517=)
|
|
|
NM_024809.5(TCTN2):c.1569C>T (p.Asn523=)
|
rs2135852947
|
|
NM_024809.5(TCTN2):c.1602C>G (p.Leu534=)
|
rs752527801
|
|
NM_024809.5(TCTN2):c.1612+12C>A
|
|
|
NM_024809.5(TCTN2):c.1612+14G>A
|
|
|
NM_024809.5(TCTN2):c.1612+15G>C
|
|
|
NM_024809.5(TCTN2):c.1612+16G>A
|
|
|
NM_024809.5(TCTN2):c.1612+9A>C
|
|
|
NM_024809.5(TCTN2):c.1641C>T (p.Asp547=)
|
rs555666775
|
|
NM_024809.5(TCTN2):c.1645C>T (p.Leu549=)
|
|
|
NM_024809.5(TCTN2):c.1671C>T (p.Cys557=)
|
|
|
NM_024809.5(TCTN2):c.1692G>A (p.Leu564=)
|
rs751298784
|
|
NM_024809.5(TCTN2):c.1713G>A (p.Ser571=)
|
|
|
NM_024809.5(TCTN2):c.1722C>T (p.Gly574=)
|
rs557018110
|
|
NM_024809.5(TCTN2):c.1725G>A (p.Ala575=)
|
|
|
NM_024809.5(TCTN2):c.1725G>C (p.Ala575=)
|
rs145483549
|
|
NM_024809.5(TCTN2):c.1728G>A (p.Val576=)
|
|
|
NM_024809.5(TCTN2):c.1769+10C>T
|
|
|
NM_024809.5(TCTN2):c.1769+8C>T
|
|
|
NM_024809.5(TCTN2):c.1769+9A>G
|
rs528667731
|
|
NM_024809.5(TCTN2):c.1770-13del
|
rs1566265391
|
|
NM_024809.5(TCTN2):c.1770-18G>A
|
|
|
NM_024809.5(TCTN2):c.1797G>A (p.Gln599=)
|
|
|
NM_024809.5(TCTN2):c.1809C>T (p.Thr603=)
|
|
|
NM_024809.5(TCTN2):c.1815G>A (p.Glu605=)
|
|
|
NM_024809.5(TCTN2):c.1851C>T (p.Val617=)
|
rs1956235464
|
|
NM_024809.5(TCTN2):c.1881C>G (p.Pro627=)
|
|
|
NM_024809.5(TCTN2):c.1881C>T (p.Pro627=)
|
rs139902134
|
|
NM_024809.5(TCTN2):c.1887C>G (p.Pro629=)
|
rs1276465193
|
|
NM_024809.5(TCTN2):c.1896-11A>C
|
rs2135862710
|
|
NM_024809.5(TCTN2):c.1896-14A>G
|
|
|
NM_024809.5(TCTN2):c.1896-18C>A
|
|
|
NM_024809.5(TCTN2):c.18G>A (p.Pro6=)
|
|
|
NM_024809.5(TCTN2):c.190+14C>T
|
|
|
NM_024809.5(TCTN2):c.191-10_191-8del
|
rs1955759155
|
|
NM_024809.5(TCTN2):c.191-12T>G
|
|
|
NM_024809.5(TCTN2):c.191-19G>A
|
|
|
NM_024809.5(TCTN2):c.191-19G>T
|
|
|
NM_024809.5(TCTN2):c.191-20T>C
|
rs2135814239
|
|
NM_024809.5(TCTN2):c.1926C>T (p.Cys642=)
|
|
|
NM_024809.5(TCTN2):c.192A>C (p.Gly64=)
|
|
|
NM_024809.5(TCTN2):c.1950G>A (p.Pro650=)
|
|
|
NM_024809.5(TCTN2):c.1959A>G (p.Leu653=)
|
|
|
NM_024809.5(TCTN2):c.2020C>T (p.Leu674=)
|
|
|
NM_024809.5(TCTN2):c.2029T>C (p.Leu677=)
|
rs1271806468
|
|
NM_024809.5(TCTN2):c.2034C>T (p.Phe678=)
|
|
|
NM_024809.5(TCTN2):c.2085C>G (p.Ala695=)
|
rs950593517
|
|
NM_024809.5(TCTN2):c.210G>A (p.Thr70=)
|
|
|
NM_024809.5(TCTN2):c.234G>A (p.Thr78=)
|
|
|
NM_024809.5(TCTN2):c.246C>T (p.Ser82=)
|
rs552719113
|
|
NM_024809.5(TCTN2):c.258C>A (p.Ile86=)
|
|
|
NM_024809.5(TCTN2):c.267+13G>A
|
|
|
NM_024809.5(TCTN2):c.267+17A>T
|
rs1593828714
|
|
NM_024809.5(TCTN2):c.267+20_267+21delinsAC
|
|
|
NM_024809.5(TCTN2):c.267+21_267+23del
|
rs768504261
|
|
NM_024809.5(TCTN2):c.268-15A>G
|
|
|
NM_024809.5(TCTN2):c.268-15A>T
|
|
|
NM_024809.5(TCTN2):c.273G>T (p.Val91=)
|
|
|
NM_024809.5(TCTN2):c.27T>A (p.Leu9=)
|
|
|
NM_024809.5(TCTN2):c.27T>G (p.Leu9=)
|
rs942739172
|
|
NM_024809.5(TCTN2):c.282G>C (p.Val94=)
|
rs146257198
|
|
NM_024809.5(TCTN2):c.333T>C (p.Asp111=)
|
rs534113568
|
|
NM_024809.5(TCTN2):c.357C>T (p.Ile119=)
|
rs1335976509
|
|
NM_024809.5(TCTN2):c.463+17_463+20del
|
|
|
NM_024809.5(TCTN2):c.464-13G>A
|
|
|
NM_024809.5(TCTN2):c.528A>T (p.Thr176=)
|
|
|
NM_024809.5(TCTN2):c.543T>C (p.Asp181=)
|
|
|
NM_024809.5(TCTN2):c.564+11del
|
rs767884874
|
|
NM_024809.5(TCTN2):c.564+13G>A
|
|
|
NM_024809.5(TCTN2):c.565-5T>G
|
|
|
NM_024809.5(TCTN2):c.585A>G (p.Thr195=)
|
rs2135834132
|
|
NM_024809.5(TCTN2):c.615C>A (p.Gly205=)
|
rs147485641
|
|
NM_024809.5(TCTN2):c.660T>C (p.Ser220=)
|
rs2135834313
|
|
NM_024809.5(TCTN2):c.672G>A (p.Thr224=)
|
|
|
NM_024809.5(TCTN2):c.684C>T (p.Val228=)
|
|
|
NM_024809.5(TCTN2):c.687C>T (p.Pro229=)
|
|
|
NM_024809.5(TCTN2):c.690T>C (p.Asp230=)
|
|
|
NM_024809.5(TCTN2):c.6C>A (p.Gly2=)
|
|
|
NM_024809.5(TCTN2):c.756T>C (p.His252=)
|
rs1593847530
|
|
NM_024809.5(TCTN2):c.764+13_764+14delinsTT
|
rs2135834618
|
|
NM_024809.5(TCTN2):c.764+17C>T
|
|
|
NM_024809.5(TCTN2):c.764+18C>T
|
|
|
NM_024809.5(TCTN2):c.764+19G>T
|
rs371865300
|
|
NM_024809.5(TCTN2):c.764+20C>T
|
|
|
NM_024809.5(TCTN2):c.765-20C>G
|
|
|
NM_024809.5(TCTN2):c.765-9G>A
|
|
|
NM_024809.5(TCTN2):c.771C>A (p.Pro257=)
|
rs2135836168
|
|
NM_024809.5(TCTN2):c.795A>G (p.Val265=)
|
|
|
NM_024809.5(TCTN2):c.82+15G>T
|
|
|
NM_024809.5(TCTN2):c.82+17A>C
|
rs2135813322
|
|
NM_024809.5(TCTN2):c.822T>C (p.Phe274=)
|
|
|
NM_024809.5(TCTN2):c.83-12C>T
|
rs2135813538
|
|
NM_024809.5(TCTN2):c.83-18C>T
|
|
|
NM_024809.5(TCTN2):c.852C>T (p.Pro284=)
|
rs2135836333
|
|
NM_024809.5(TCTN2):c.861T>C (p.Thr287=)
|
|
|
NM_024809.5(TCTN2):c.891+12A>G
|
|
|
NM_024809.5(TCTN2):c.891+18A>G
|
|
|
NM_024809.5(TCTN2):c.891+7_891+8inv
|
|
|
NM_024809.5(TCTN2):c.892-18T>C
|
rs1319716996
|
|
NM_024809.5(TCTN2):c.892-19C>G
|
|
|
NM_024809.5(TCTN2):c.892-7C>T
|
rs2135839788
|
|
NM_024809.5(TCTN2):c.921C>T (p.Asn307=)
|
|
|
NM_024809.5(TCTN2):c.993T>C (p.Asp331=)
|
rs2135840040
|
|
NM_025114.4(CEP290):c.1000C>T (p.Leu334=)
|
rs2138022943
|
|
NM_025114.4(CEP290):c.1002A>T (p.Leu334=)
|
rs757621266
|
|
NM_025114.4(CEP290):c.1005G>A (p.Arg335=)
|
rs1043933772
|
|
NM_025114.4(CEP290):c.1008G>A (p.Glu336=)
|
|
|
NM_025114.4(CEP290):c.102+17T>C
|
|
|
NM_025114.4(CEP290):c.102+7A>T
|
|
|
NM_025114.4(CEP290):c.102+8A>T
|
rs2138303509
|
|
NM_025114.4(CEP290):c.1020T>C (p.Asn340=)
|
|
|
NM_025114.4(CEP290):c.1026G>A (p.Gln342=)
|
|
|
NM_025114.4(CEP290):c.103-20T>C
|
|
|
NM_025114.4(CEP290):c.103-4T>G
|
|
|
NM_025114.4(CEP290):c.103-5C>T
|
rs2138299257
|
|
NM_025114.4(CEP290):c.1035T>A (p.Ala345=)
|
|
|
NM_025114.4(CEP290):c.1044T>C (p.Ser348=)
|
|
|
NM_025114.4(CEP290):c.1059A>G (p.Leu353=)
|
rs2138021415
|
|
NM_025114.4(CEP290):c.1065+11A>G
|
|
|
NM_025114.4(CEP290):c.1065+12_1065+14del
|
|
|
NM_025114.4(CEP290):c.1065+15_1065+16del
|
|
|
NM_025114.4(CEP290):c.1065+9T>G
|
|
|
NM_025114.4(CEP290):c.1066-10T>C
|
|
|
NM_025114.4(CEP290):c.1066-20T>A
|
rs1472056992
|
|
NM_025114.4(CEP290):c.1066-5T>C
|
|
|
NM_025114.4(CEP290):c.1066-8T>A
|
|
|
NM_025114.4(CEP290):c.1068T>A (p.Gly356=)
|
|
|
NM_025114.4(CEP290):c.1078C>A (p.Arg360=)
|
rs776645403
|
|
NM_025114.4(CEP290):c.1092T>C (p.Ile364=)
|
|
|
NM_025114.4(CEP290):c.1095G>A (p.Lys365=)
|
rs2138002953
|
|
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=)
|
rs758472041
|
|
NM_025114.4(CEP290):c.1128A>G (p.Lys376=)
|
rs2138001930
|
|
NM_025114.4(CEP290):c.1131A>G (p.Glu377=)
|
rs1248968401
|
|
NM_025114.4(CEP290):c.1140G>A (p.Lys380=)
|
|
|
NM_025114.4(CEP290):c.1158A>G (p.Glu386=)
|
|
|
NM_025114.4(CEP290):c.1179A>G (p.Gln393=)
|
rs2138000643
|
|
NM_025114.4(CEP290):c.1182A>G (p.Arg394=)
|
rs2138000548
|
|
NM_025114.4(CEP290):c.1189+10T>G
|
|
|
NM_025114.4(CEP290):c.1189+13A>G
|
rs2039658519
|
|
NM_025114.4(CEP290):c.1189+15A>G
|
|
|
NM_025114.4(CEP290):c.1189+16T>C
|
|
|
NM_025114.4(CEP290):c.1189+19A>G
|
|
|
NM_025114.4(CEP290):c.1189+19_1189+21del
|
|
|
NM_025114.4(CEP290):c.1189+20G>A
|
|
|
NM_025114.4(CEP290):c.1189+20_1189+23del
|
rs1460774098
|
|
NM_025114.4(CEP290):c.1189+9A>G
|
|
|
NM_025114.4(CEP290):c.1190-10T>C
|
rs750104849
|
|
NM_025114.4(CEP290):c.1190-15G>T
|
|
|
NM_025114.4(CEP290):c.1190-4G>C
|
rs2039375104
|
|
NM_025114.4(CEP290):c.1190-6C>G
|
|
|
NM_025114.4(CEP290):c.1190-6C>T
|
|
|
NM_025114.4(CEP290):c.1190-8_1190-7delinsTC
|
rs2137921603
|
|
NM_025114.4(CEP290):c.1197A>C (p.Ser399=)
|
|
|
NM_025114.4(CEP290):c.1209A>G (p.Gln403=)
|
rs748251474
|
|
NM_025114.4(CEP290):c.120A>G (p.Leu40=)
|
rs2138298973
|
|
NM_025114.4(CEP290):c.1230G>A (p.Gln410=)
|
rs2137920073
|
|
NM_025114.4(CEP290):c.1236G>T (p.Thr412=)
|
|
|
NM_025114.4(CEP290):c.1248A>G (p.Leu416=)
|
|
|
NM_025114.4(CEP290):c.1263A>G (p.Lys421=)
|
|
|
NM_025114.4(CEP290):c.1266G>A (p.Glu422=)
|
|
|
NM_025114.4(CEP290):c.1281T>C (p.Ala427=)
|
rs2137918647
|
|
NM_025114.4(CEP290):c.1284A>G (p.Glu428=)
|
|
|
NM_025114.4(CEP290):c.1293G>A (p.Glu431=)
|
rs1367715172
|
|
NM_025114.4(CEP290):c.1296T>C (p.Ala432=)
|
|
|
NM_025114.4(CEP290):c.12T>C (p.Asn4=)
|
|
|
NM_025114.4(CEP290):c.1305G>A (p.Arg435=)
|
|
|
NM_025114.4(CEP290):c.1320A>G (p.Glu440=)
|
|
|
NM_025114.4(CEP290):c.1350T>C (p.Asp450=)
|
|
|
NM_025114.4(CEP290):c.1353T>C (p.Tyr451=)
|
rs2137916151
|
|
NM_025114.4(CEP290):c.1359+13A>G
|
|
|
NM_025114.4(CEP290):c.1359+15C>G
|
|
|
NM_025114.4(CEP290):c.1359+15C>T
|
|
|
NM_025114.4(CEP290):c.1359+16T>C
|
|
|
NM_025114.4(CEP290):c.1359+18G>T
|
|
|
NM_025114.4(CEP290):c.1359+19T>C
|
|
|
NM_025114.4(CEP290):c.1359+20C>A
|
|
|
NM_025114.4(CEP290):c.1359+20C>T
|
|
|
NM_025114.4(CEP290):c.135A>G (p.Gln45=)
|
|
|
NM_025114.4(CEP290):c.1360-11A>G
|
|
|
NM_025114.4(CEP290):c.1360-14T>G
|
|
|
NM_025114.4(CEP290):c.1360-4T>C
|
|
|
NM_025114.4(CEP290):c.1360-7T>C
|
|
|
NM_025114.4(CEP290):c.1360-9A>C
|
rs2137905309
|
|
NM_025114.4(CEP290):c.1360-9del
|
|
|
NM_025114.4(CEP290):c.1362A>G (p.Gly454=)
|
|
|
NM_025114.4(CEP290):c.1365A>G (p.Val455=)
|
|
|
NM_025114.4(CEP290):c.1371T>C (p.Gly457=)
|
|
|
NM_025114.4(CEP290):c.1380T>C (p.Asp460=)
|
|
|
NM_025114.4(CEP290):c.1386C>A (p.Val462=)
|
rs886038689
|
|
NM_025114.4(CEP290):c.1389T>A (p.Val463=)
|
|
|
NM_025114.4(CEP290):c.1392A>G (p.Glu464=)
|
|
|
NM_025114.4(CEP290):c.1419A>G (p.Lys473=)
|
rs2137903473
|
|
NM_025114.4(CEP290):c.141T>C (p.Asn47=)
|
rs1267471683
|
|
NM_025114.4(CEP290):c.1429C>A (p.Arg477=)
|
rs1170451277
|
|
NM_025114.4(CEP290):c.1434G>A (p.Glu478=)
|
|
|
NM_025114.4(CEP290):c.1482T>C (p.Ser494=)
|
rs1295495930
|
|
NM_025114.4(CEP290):c.1515G>A (p.Glu505=)
|
|
|
NM_025114.4(CEP290):c.1522+11T>C
|
|
|
NM_025114.4(CEP290):c.1522+14T>G
|
|
|
NM_025114.4(CEP290):c.1522+15A>C
|
|
|
NM_025114.4(CEP290):c.1522+20A>T
|
|
|
NM_025114.4(CEP290):c.1522+8A>G
|
rs1410927153
|
|
NM_025114.4(CEP290):c.1522+9T>C
|
rs982222564
|
|
NM_025114.4(CEP290):c.1523-10del
|
rs2039228878
|
|
NM_025114.4(CEP290):c.1523-13C>T
|
|
|
NM_025114.4(CEP290):c.1523-14G>A
|
|
|
NM_025114.4(CEP290):c.1523-15del
|
rs2137876506
|
|
NM_025114.4(CEP290):c.1523-18T>C
|
|
|
NM_025114.4(CEP290):c.1523-19A>G
|
|
|
NM_025114.4(CEP290):c.1524C>T (p.Gly508=)
|
|
|
NM_025114.4(CEP290):c.1527T>G (p.Leu509=)
|
|
|
NM_025114.4(CEP290):c.1584G>A (p.Gln528=)
|
|
|
NM_025114.4(CEP290):c.1593C>T (p.Tyr531=)
|
rs763559949
|
|
NM_025114.4(CEP290):c.1599T>G (p.Ala533=)
|
rs2137874116
|
|
NM_025114.4(CEP290):c.1602A>G (p.Glu534=)
|
|
|
NM_025114.4(CEP290):c.1605C>T (p.Asn535=)
|
|
|
NM_025114.4(CEP290):c.1611T>A (p.Ile537=)
|
|
|
NM_025114.4(CEP290):c.1611T>C (p.Ile537=)
|
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10_1623+11dup
|
|
|
NM_025114.4(CEP290):c.1623+18T>C
|
|
|
NM_025114.4(CEP290):c.1623+7G>T
|
rs2137873070
|
|
NM_025114.4(CEP290):c.1624-10T>C
|
rs2137871528
|
|
NM_025114.4(CEP290):c.1624-12T>G
|
|
|
NM_025114.4(CEP290):c.1624-13T>C
|
|
|
NM_025114.4(CEP290):c.1624-13T>G
|
|
|
NM_025114.4(CEP290):c.1624-14T>G
|
|
|
NM_025114.4(CEP290):c.1624-18A>C
|
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
NM_025114.4(CEP290):c.1626T>A (p.Ile542=)
|
rs762272190
|
|
NM_025114.4(CEP290):c.1635A>G (p.Leu545=)
|
|
|
NM_025114.4(CEP290):c.1638G>A (p.Glu546=)
|
|
|
NM_025114.4(CEP290):c.1644A>G (p.Glu548=)
|
|
|
NM_025114.4(CEP290):c.1650T>A (p.Leu550=)
|
|
|
NM_025114.4(CEP290):c.165T>A (p.Thr55=)
|
rs2138297919
|
|
NM_025114.4(CEP290):c.165T>C (p.Thr55=)
|
rs2138297919
|
|
NM_025114.4(CEP290):c.1668T>A (p.Ile556=)
|
rs1458242843
|
|
NM_025114.4(CEP290):c.1683A>G (p.Gln561=)
|
|
|
NM_025114.4(CEP290):c.1711+13A>T
|
|
|
NM_025114.4(CEP290):c.1711+18A>G
|
rs2137866354
|
|
NM_025114.4(CEP290):c.1711+7T>C
|
|
|
NM_025114.4(CEP290):c.1711+9A>G
|
rs1354489737
|
|
NM_025114.4(CEP290):c.1712-20G>T
|
|
|
NM_025114.4(CEP290):c.1712-4A>G
|
|
|
NM_025114.4(CEP290):c.1712-7T>C
|
rs1211882783
|
|
NM_025114.4(CEP290):c.1712-9TA[5]
|
rs2137838962
|
|
NM_025114.4(CEP290):c.171A>G (p.Ser57=)
|
rs2138297496
|
|
NM_025114.4(CEP290):c.1737A>T (p.Leu579=)
|
rs1173906301
|
|
NM_025114.4(CEP290):c.1746C>T (p.Asn582=)
|
|
|
NM_025114.4(CEP290):c.174A>G (p.Leu58=)
|
rs1257171303
|
|
NM_025114.4(CEP290):c.174A>T (p.Leu58=)
|
|
|
NM_025114.4(CEP290):c.1758A>G (p.Gly586=)
|
|
|
NM_025114.4(CEP290):c.1761T>C (p.Asp587=)
|
|
|
NM_025114.4(CEP290):c.1788A>G (p.Leu596=)
|
rs1223585284
|
|
NM_025114.4(CEP290):c.1789T>C (p.Leu597=)
|
rs2039096949
|
|
NM_025114.4(CEP290):c.1791G>A (p.Leu597=)
|
rs1346086093
|
|
NM_025114.4(CEP290):c.1797C>A (p.Leu599=)
|
rs2137836275
|
|
NM_025114.4(CEP290):c.1797C>G (p.Leu599=)
|
|
|
NM_025114.4(CEP290):c.180+10_180+11dup
|
|
|
NM_025114.4(CEP290):c.180+12G>T
|
|
|
NM_025114.4(CEP290):c.180+13T>C
|
|
|
NM_025114.4(CEP290):c.180+14A>T
|
|
|
NM_025114.4(CEP290):c.180+15G>T
|
|
|
NM_025114.4(CEP290):c.180+18T>G
|
|
|
NM_025114.4(CEP290):c.180+8T>C
|
rs750648438
|
|
NM_025114.4(CEP290):c.181-10T>A
|
|
|
NM_025114.4(CEP290):c.181-17C>A
|
|
|
NM_025114.4(CEP290):c.181-17C>G
|
|
|
NM_025114.4(CEP290):c.181-18C>T
|
|
|
NM_025114.4(CEP290):c.181-4T>A
|
rs773899264
|
|
NM_025114.4(CEP290):c.181-6G>A
|
rs975947396
|
|
NM_025114.4(CEP290):c.181-7T>C
|
rs2138267601
|
|
NM_025114.4(CEP290):c.1824+12G>A
|
|
|
NM_025114.4(CEP290):c.1824+14A>G
|
|
|
NM_025114.4(CEP290):c.1824+15dup
|
rs746448124
|
|
NM_025114.4(CEP290):c.1824+17G>A
|
|
|
NM_025114.4(CEP290):c.1824+18C>A
|
|
|
NM_025114.4(CEP290):c.1824+7G>A
|
|
|
NM_025114.4(CEP290):c.1824+7G>C
|
|
|
NM_025114.4(CEP290):c.1824+9A>G
|
rs2137835565
|
|
NM_025114.4(CEP290):c.1825-11G>C
|
|
|
NM_025114.4(CEP290):c.1825-16T>C
|
|
|
NM_025114.4(CEP290):c.1825-17C>A
|
rs1271533024
|
|
NM_025114.4(CEP290):c.1825-17C>T
|
|
|
NM_025114.4(CEP290):c.1825-19T>G
|
|
|
NM_025114.4(CEP290):c.1827T>C (p.Asn609=)
|
|
|
NM_025114.4(CEP290):c.1830A>G (p.Glu610=)
|
rs2038962868
|
|
NM_025114.4(CEP290):c.1839A>T (p.Ser613=)
|
|
|
NM_025114.4(CEP290):c.1851T>C (p.Ile617=)
|
|
|
NM_025114.4(CEP290):c.1854A>G (p.Glu618=)
|
rs1457478471
|
|
NM_025114.4(CEP290):c.1863A>G (p.Arg621=)
|
|
|
NM_025114.4(CEP290):c.1875G>A (p.Arg625=)
|
|
|
NM_025114.4(CEP290):c.1878T>C (p.Ser626=)
|
|
|
NM_025114.4(CEP290):c.1884A>C (p.Thr628=)
|
|
|
NM_025114.4(CEP290):c.1884A>G (p.Thr628=)
|
|
|
NM_025114.4(CEP290):c.1899T>C (p.Phe633=)
|
|
|
NM_025114.4(CEP290):c.1909+14A>T
|
|
|
NM_025114.4(CEP290):c.1909+17T>C
|
|
|
NM_025114.4(CEP290):c.1909+9C>G
|
rs2038957507
|
|
NM_025114.4(CEP290):c.1910-10_1910-9del
|
rs773520477
|
|
NM_025114.4(CEP290):c.1910-27_1910-19del
|
|
|
NM_025114.4(CEP290):c.1910-4A>G
|
|
|
NM_025114.4(CEP290):c.1935G>A (p.Lys645=)
|
|
|
NM_025114.4(CEP290):c.1944A>G (p.Glu648=)
|
|
|
NM_025114.4(CEP290):c.1963T>C (p.Leu655=)
|
rs2137782192
|
|
NM_025114.4(CEP290):c.1965G>A (p.Leu655=)
|
rs2137782106
|
|
NM_025114.4(CEP290):c.1968A>G (p.Gln656=)
|
rs2038920205
|
|
NM_025114.4(CEP290):c.1986G>A (p.Gln662=)
|
|
|
NM_025114.4(CEP290):c.1998T>C (p.Asp666=)
|
|
|
NM_025114.4(CEP290):c.201G>A (p.Glu67=)
|
|
|
NM_025114.4(CEP290):c.2043A>G (p.Arg681=)
|
|
|
NM_025114.4(CEP290):c.2052+14T>C
|
rs2137779486
|
|
NM_025114.4(CEP290):c.2052+15T>C
|
|
|
NM_025114.4(CEP290):c.2052+18T>A
|
|
|
NM_025114.4(CEP290):c.2052+8A>G
|
|
|
NM_025114.4(CEP290):c.2052+9T>C
|
|
|
NM_025114.4(CEP290):c.2053-11A>C
|
rs2137726477
|
|
NM_025114.4(CEP290):c.2053-14T>C
|
rs2137726582
|
|
NM_025114.4(CEP290):c.2053-14_2053-10del
|
|
|
NM_025114.4(CEP290):c.2053-16A>G
|
|
|
NM_025114.4(CEP290):c.2053-17T>C
|
|
|
NM_025114.4(CEP290):c.2053-20A>C
|
|
|
NM_025114.4(CEP290):c.2053-20A>G
|
|
|
NM_025114.4(CEP290):c.2053-4C>G
|
|
|
NM_025114.4(CEP290):c.2064A>C (p.Ser688=)
|
rs2137725550
|
|
NM_025114.4(CEP290):c.2064A>G (p.Ser688=)
|
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
NM_025114.4(CEP290):c.2070T>C (p.Asn690=)
|
|
|
NM_025114.4(CEP290):c.2073A>C (p.Ala691=)
|
|
|
NM_025114.4(CEP290):c.2095C>T (p.Leu699=)
|
rs748627817
|
|
NM_025114.4(CEP290):c.2097G>T (p.Leu699=)
|
|
|
NM_025114.4(CEP290):c.2127C>G (p.Thr709=)
|
|
|
NM_025114.4(CEP290):c.2163A>G (p.Glu721=)
|
rs2137722314
|
|
NM_025114.4(CEP290):c.2197T>C (p.Leu733=)
|
|
|
NM_025114.4(CEP290):c.2199G>A (p.Leu733=)
|
rs2137721385
|
|
NM_025114.4(CEP290):c.2202A>G (p.Ala734=)
|
rs2137721256
|
|
NM_025114.4(CEP290):c.2217+17A>G
|
rs2137720557
|
|
NM_025114.4(CEP290):c.2217+19A>G
|
|
|
NM_025114.4(CEP290):c.2217+7A>G
|
|
|
NM_025114.4(CEP290):c.2218-13T>A
|
rs780987235
|
|
NM_025114.4(CEP290):c.2218-15G>A
|
rs993016017
|
|
NM_025114.4(CEP290):c.2218-16G>A
|
|
|
NM_025114.4(CEP290):c.2218-4C>T
|
rs2137713156
|
|
NM_025114.4(CEP290):c.2218-6T>C
|
|
|
NM_025114.4(CEP290):c.2235A>G (p.Lys745=)
|
|
|
NM_025114.4(CEP290):c.2247T>C (p.Leu749=)
|
rs762072403
|
|
NM_025114.4(CEP290):c.2250A>G (p.Leu750=)
|
|
|
NM_025114.4(CEP290):c.2259A>G (p.Ser753=)
|
|
|
NM_025114.4(CEP290):c.225A>G (p.Lys75=)
|
rs2040521242
|
|
NM_025114.4(CEP290):c.2268A>T (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.2286A>G (p.Gly762=)
|
rs1171982729
|
|
NM_025114.4(CEP290):c.228T>C (p.Ala76=)
|
|
|
NM_025114.4(CEP290):c.2293T>C (p.Leu765=)
|
|
|
NM_025114.4(CEP290):c.2301T>C (p.Asp767=)
|
|
|
NM_025114.4(CEP290):c.2304G>C (p.Gly768=)
|
|
|
NM_025114.4(CEP290):c.231A>G (p.Gly77=)
|
rs753852812
|
|
NM_025114.4(CEP290):c.2322C>T (p.Ala774=)
|
|
|
NM_025114.4(CEP290):c.2328C>T (p.Ile776=)
|
rs2137708829
|
|
NM_025114.4(CEP290):c.2337T>G (p.Ser779=)
|
|
|
NM_025114.4(CEP290):c.2361G>A (p.Leu787=)
|
rs1337194775
|
|
NM_025114.4(CEP290):c.2367+10A>G
|
|
|
NM_025114.4(CEP290):c.2367+8A>G
|
rs1373970415
|
|
NM_025114.4(CEP290):c.2367+9A>C
|
|
|
NM_025114.4(CEP290):c.2368-10del
|
rs2137665854
|
|
NM_025114.4(CEP290):c.2368-16C>A
|
|
|
NM_025114.4(CEP290):c.2368-19T>C
|
rs2137665948
|
|
NM_025114.4(CEP290):c.2368-4T>A
|
rs2137665617
|
|
NM_025114.4(CEP290):c.2368-5_2368-4del
|
|
|
NM_025114.4(CEP290):c.2368-8C>T
|
|
|
NM_025114.4(CEP290):c.2371C>T (p.Leu791=)
|
rs2137665532
|
|
NM_025114.4(CEP290):c.2373A>G (p.Leu791=)
|
rs760126835
|
|
NM_025114.4(CEP290):c.2400T>C (p.Asn800=)
|
rs2038497441
|
|
NM_025114.4(CEP290):c.2418A>G (p.Glu806=)
|
rs2137663910
|
|
NM_025114.4(CEP290):c.2428A>C (p.Arg810=)
|
rs2137663513
|
|
NM_025114.4(CEP290):c.243A>T (p.Ala81=)
|
|
|
NM_025114.4(CEP290):c.2466G>A (p.Leu822=)
|
rs2137662331
|
|
NM_025114.4(CEP290):c.246A>G (p.Lys82=)
|
rs761233532
|
|
NM_025114.4(CEP290):c.2478C>T (p.Tyr826=)
|
|
|
NM_025114.4(CEP290):c.2483+10T>G
|
rs1327914633
|
|
NM_025114.4(CEP290):c.2483+13G>A
|
|
|
NM_025114.4(CEP290):c.2483+15A>G
|
|
|
NM_025114.4(CEP290):c.2483+19C>T
|
|
|
NM_025114.4(CEP290):c.2483+7G>T
|
rs886038692
|
|
NM_025114.4(CEP290):c.2484-12T>C
|
|
|
NM_025114.4(CEP290):c.2484-18G>A
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[2]
|
rs745522483
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[5]
|
rs745522483
|
|
NM_025114.4(CEP290):c.2484-8G>A
|
rs1436691712
|
|
NM_025114.4(CEP290):c.250+10T>C
|
rs1317384355
|
|
NM_025114.4(CEP290):c.250+11T>A
|
|
|
NM_025114.4(CEP290):c.250+13G>A
|
|
|
NM_025114.4(CEP290):c.250+14A>G
|
|
|
NM_025114.4(CEP290):c.250+16A>G
|
|
|
NM_025114.4(CEP290):c.250+9C>G
|
rs2040519029
|
|
NM_025114.4(CEP290):c.251-20del
|
rs879405859
|
|
NM_025114.4(CEP290):c.251-4del
|
rs759170743
|
|
NM_025114.4(CEP290):c.251-4dup
|
|
|
NM_025114.4(CEP290):c.2533A>C (p.Arg845=)
|
rs371475408
|
|
NM_025114.4(CEP290):c.2538A>G (p.Lys846=)
|
|
|
NM_025114.4(CEP290):c.2544G>A (p.Glu848=)
|
rs1201358340
|
|
NM_025114.4(CEP290):c.2547T>C (p.Asp849=)
|
rs1417219342
|
|
NM_025114.4(CEP290):c.2550A>G (p.Gln850=)
|
|
|
NM_025114.4(CEP290):c.2559A>G (p.Gln853=)
|
|
|
NM_025114.4(CEP290):c.2565T>C (p.Ala855=)
|
|
|
NM_025114.4(CEP290):c.2568A>C (p.Ile856=)
|
|
|
NM_025114.4(CEP290):c.2574A>G (p.Val858=)
|
rs768235992
|
|
NM_025114.4(CEP290):c.2583T>C (p.Tyr861=)
|
|
|
NM_025114.4(CEP290):c.2586+20C>A
|
|
|
NM_025114.4(CEP290):c.2587-10C>G
|
rs2137619649
|
|
NM_025114.4(CEP290):c.2587-14G>T
|
|
|
NM_025114.4(CEP290):c.2587-16A>T
|
|
|
NM_025114.4(CEP290):c.2587-17G>A
|
|
|
NM_025114.4(CEP290):c.2587-20A>G
|
|
|
NM_025114.4(CEP290):c.258A>G (p.Gln86=)
|
|
|
NM_025114.4(CEP290):c.259T>C (p.Leu87=)
|
|
|
NM_025114.4(CEP290):c.2640A>C (p.Ala880=)
|
rs2137617832
|
|
NM_025114.4(CEP290):c.2646T>C (p.Asn882=)
|
rs2038318253
|
|
NM_025114.4(CEP290):c.2652G>A (p.Arg884=)
|
rs2137617412
|
|
NM_025114.4(CEP290):c.2655A>G (p.Lys885=)
|
|
|
NM_025114.4(CEP290):c.2661T>C (p.Thr887=)
|
rs2137617168
|
|
NM_025114.4(CEP290):c.2673G>A (p.Val891=)
|
|
|
NM_025114.4(CEP290):c.267T>G (p.Thr89=)
|
|
|
NM_025114.4(CEP290):c.2694G>A (p.Arg898=)
|
rs2038314186
|
|
NM_025114.4(CEP290):c.2697A>G (p.Gln899=)
|
rs770769486
|
|
NM_025114.4(CEP290):c.2706C>G (p.Thr902=)
|
|
|
NM_025114.4(CEP290):c.2730T>C (p.Leu910=)
|
|
|
NM_025114.4(CEP290):c.273A>G (p.Val91=)
|
rs768434171
|
|
NM_025114.4(CEP290):c.2757T>C (p.Asn919=)
|
|
|
NM_025114.4(CEP290):c.2763G>A (p.Leu921=)
|
rs760283430
|
|
NM_025114.4(CEP290):c.2784T>G (p.Val928=)
|
|
|
NM_025114.4(CEP290):c.2817+10A>G
|
|
|
NM_025114.4(CEP290):c.2817+10A>T
|
rs2137611795
|
|
NM_025114.4(CEP290):c.2817+14T>C
|
|
|
NM_025114.4(CEP290):c.2817+16A>G
|
|
|
NM_025114.4(CEP290):c.2817+17T>C
|
|
|
NM_025114.4(CEP290):c.2817+17T>G
|
|
|
NM_025114.4(CEP290):c.2817+19T>A
|
|
|
NM_025114.4(CEP290):c.2818-10A>G
|
rs2137544573
|
|
NM_025114.4(CEP290):c.2818-14C>A
|
|
|
NM_025114.4(CEP290):c.2818-14C>T
|
|
|
NM_025114.4(CEP290):c.2818-15T>A
|
|
|
NM_025114.4(CEP290):c.2818-20G>A
|
|
|
NM_025114.4(CEP290):c.2818-4A>G
|
rs2137544449
|
|
NM_025114.4(CEP290):c.2818-6A>G
|
|
|
NM_025114.4(CEP290):c.2826C>T (p.Ala942=)
|
rs1456663660
|
|
NM_025114.4(CEP290):c.282G>A (p.Leu94=)
|
|
|
NM_025114.4(CEP290):c.2841A>T (p.Ala947=)
|
rs1252435155
|
|
NM_025114.4(CEP290):c.2844T>A (p.Ala948=)
|
rs2137543585
|
|
NM_025114.4(CEP290):c.2847C>T (p.Leu949=)
|
|
|
NM_025114.4(CEP290):c.2853A>G (p.Lys951=)
|
rs2038009620
|
|
NM_025114.4(CEP290):c.2874T>G (p.Ser958=)
|
|
|
NM_025114.4(CEP290):c.2890C>T (p.Leu964=)
|
rs1237834262
|
|
NM_025114.4(CEP290):c.2898T>C (p.Asn966=)
|
rs2137542191
|
|
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=)
|
rs1393060819
|
|
NM_025114.4(CEP290):c.2931G>A (p.Arg977=)
|
|
|
NM_025114.4(CEP290):c.2934C>T (p.Asp978=)
|
rs2038000673
|
|
NM_025114.4(CEP290):c.2952T>C (p.Asn984=)
|
rs1007548055
|
|
NM_025114.4(CEP290):c.2965A>C (p.Arg989=)
|
rs2037997734
|
|
NM_025114.4(CEP290):c.297+10T>C
|
rs2138257173
|
|
NM_025114.4(CEP290):c.297+11T>C
|
|
|
NM_025114.4(CEP290):c.297+8T>A
|
rs2138257277
|
|
NM_025114.4(CEP290):c.297+9T>C
|
rs2138257225
|
|
NM_025114.4(CEP290):c.298-15G>A
|
|
|
NM_025114.4(CEP290):c.298-16G>A
|
rs531851010
|
|
NM_025114.4(CEP290):c.298-16G>C
|
rs531851010
|
|
NM_025114.4(CEP290):c.298-16G>T
|
|
|
NM_025114.4(CEP290):c.298-20T>G
|
|
|
NM_025114.4(CEP290):c.298-7C>T
|
rs2040376906
|
|
NM_025114.4(CEP290):c.2986C>T (p.Leu996=)
|
rs759867592
|
|
NM_025114.4(CEP290):c.2991+17C>T
|
|
|
NM_025114.4(CEP290):c.2991+20G>T
|
|
|
NM_025114.4(CEP290):c.2992-10C>G
|
rs2137426807
|
|
NM_025114.4(CEP290):c.2992-11C>T
|
|
|
NM_025114.4(CEP290):c.2992-17A>G
|
|
|
NM_025114.4(CEP290):c.2992-18T>C
|
|
|
NM_025114.4(CEP290):c.2992-20del
|
|
|
NM_025114.4(CEP290):c.2992-6dup
|
rs2137426720
|
|
NM_025114.4(CEP290):c.2992-7T>C
|
|
|
NM_025114.4(CEP290):c.2997A>G (p.Glu999=)
|
rs2137426535
|
|
NM_025114.4(CEP290):c.3000C>T (p.Asn1000=)
|
|
|
NM_025114.4(CEP290):c.3018A>G (p.Gln1006=)
|
|
|
NM_025114.4(CEP290):c.3036A>G (p.Lys1012=)
|
rs2137424983
|
|
NM_025114.4(CEP290):c.303T>C (p.Ala101=)
|
rs2040376122
|
|
NM_025114.4(CEP290):c.3045G>A (p.Glu1015=)
|
rs2137424685
|
|
NM_025114.4(CEP290):c.3066C>T (p.His1022=)
|
|
|
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=)
|
rs779561006
|
|
NM_025114.4(CEP290):c.3081C>T (p.Ala1027=)
|
|
|
NM_025114.4(CEP290):c.3093A>G (p.Glu1031=)
|
|
|
NM_025114.4(CEP290):c.309G>A (p.Gln103=)
|
|
|
NM_025114.4(CEP290):c.30A>C (p.Ile10=)
|
|
|
NM_025114.4(CEP290):c.3103+13A>G
|
|
|
NM_025114.4(CEP290):c.3103+15T>C
|
|
|
NM_025114.4(CEP290):c.3103+17T>C
|
|
|
NM_025114.4(CEP290):c.3103+19A>G
|
|
|
NM_025114.4(CEP290):c.3104-11A>T
|
|
|
NM_025114.4(CEP290):c.3104-14A>G
|
|
|
NM_025114.4(CEP290):c.3104-16A>G
|
|
|
NM_025114.4(CEP290):c.3104-8G>A
|
|
|
NM_025114.4(CEP290):c.3104-8G>T
|
|
|
NM_025114.4(CEP290):c.3104-9T>C
|
|
|
NM_025114.4(CEP290):c.312T>G (p.Ser104=)
|
rs2138217275
|
|
NM_025114.4(CEP290):c.3153C>T (p.Asp1051=)
|
rs2037238077
|
|
NM_025114.4(CEP290):c.3156T>A (p.Ile1052=)
|
rs779569679
|
|
NM_025114.4(CEP290):c.315A>G (p.Ala105=)
|
|
|
NM_025114.4(CEP290):c.3184C>T (p.Leu1062=)
|
rs2137366862
|
|
NM_025114.4(CEP290):c.318T>G (p.Gly106=)
|
rs2138217159
|
|
NM_025114.4(CEP290):c.3204T>C (p.Asn1068=)
|
|
|
NM_025114.4(CEP290):c.3210G>A (p.Arg1070=)
|
rs1592539040
|
|
NM_025114.4(CEP290):c.3214C>A (p.Arg1072=)
|
rs780870106
|
|
NM_025114.4(CEP290):c.321A>T (p.Gly107=)
|
|
|
NM_025114.4(CEP290):c.3249A>G (p.Leu1083=)
|
|
|
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3252G>A (p.Arg1084=)
|
rs2137363882
|
|
NM_025114.4(CEP290):c.3267A>G (p.Gln1089=)
|
|
|
NM_025114.4(CEP290):c.3288A>G (p.Glu1096=)
|
|
|
NM_025114.4(CEP290):c.3297C>G (p.Thr1099=)
|
rs1277434581
|
|
NM_025114.4(CEP290):c.3309+14A>C
|
|
|
NM_025114.4(CEP290):c.3309+16T>G
|
|
|
NM_025114.4(CEP290):c.3309+19T>C
|
|
|
NM_025114.4(CEP290):c.3309+8A>T
|
rs2137362040
|
|
NM_025114.4(CEP290):c.3310-13T>A
|
|
|
NM_025114.4(CEP290):c.3310-5C>A
|
rs2137345196
|
|
NM_025114.4(CEP290):c.3310-6C>T
|
rs774139392
|
|
NM_025114.4(CEP290):c.3310-7del
|
rs2037151700
|
|
NM_025114.4(CEP290):c.3315C>T (p.Thr1105=)
|
|
|
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=)
|
rs2037149786
|
|
NM_025114.4(CEP290):c.3330T>C (p.Asp1110=)
|
|
|
NM_025114.4(CEP290):c.333G>T (p.Arg111=)
|
rs2138216422
|
|
NM_025114.4(CEP290):c.3363A>G (p.Glu1121=)
|
|
|
NM_025114.4(CEP290):c.3378G>A (p.Val1126=)
|
rs546939043
|
|
NM_025114.4(CEP290):c.3396T>C (p.Asp1132=)
|
rs1291200387
|
|
NM_025114.4(CEP290):c.3399T>C (p.Ala1133=)
|
|
|
NM_025114.4(CEP290):c.3405G>A (p.Arg1135=)
|
|
|
NM_025114.4(CEP290):c.3426G>A (p.Glu1142=)
|
rs2137341818
|
|
NM_025114.4(CEP290):c.3441A>G (p.Glu1147=)
|
rs2137341183
|
|
NM_025114.4(CEP290):c.3461+10T>A
|
|
|
NM_025114.4(CEP290):c.3461+14A>T
|
rs1469392631
|
|
NM_025114.4(CEP290):c.3461+15G>A
|
rs2137340039
|
|
NM_025114.4(CEP290):c.3461+17A>G
|
|
|
NM_025114.4(CEP290):c.3461+7G>T
|
rs1565852636
|
|
NM_025114.4(CEP290):c.3461+8C>T
|
rs1370236429
|
|
NM_025114.4(CEP290):c.3461+9A>G
|
|
|
NM_025114.4(CEP290):c.3462-10C>A
|
rs2137305901
|
|
NM_025114.4(CEP290):c.3462-12A>T
|
|
|
NM_025114.4(CEP290):c.3462-16C>T
|
|
|
NM_025114.4(CEP290):c.3462-18T>C
|
|
|
NM_025114.4(CEP290):c.3462-19del
|
|
|
NM_025114.4(CEP290):c.3462-5C>T
|
rs2036980891
|
|
NM_025114.4(CEP290):c.3477T>C (p.Ser1159=)
|
rs2137305444
|
|
NM_025114.4(CEP290):c.3486C>G (p.Ala1162=)
|
rs376583223
|
|
NM_025114.4(CEP290):c.348A>G (p.Glu116=)
|
|
|
NM_025114.4(CEP290):c.3495A>G (p.Gln1165=)
|
|
|
NM_025114.4(CEP290):c.3513A>G (p.Ala1171=)
|
|
|
NM_025114.4(CEP290):c.351T>C (p.Ile117=)
|
|
|
NM_025114.4(CEP290):c.3528G>A (p.Arg1176=)
|
|
|
NM_025114.4(CEP290):c.3534G>A (p.Lys1178=)
|
rs756488924
|
|
NM_025114.4(CEP290):c.3537A>G (p.Glu1179=)
|
|
|
NM_025114.4(CEP290):c.3540A>G (p.Val1180=)
|
|
|
NM_025114.4(CEP290):c.3543G>A (p.Glu1181=)
|
rs2137302632
|
|
NM_025114.4(CEP290):c.3546C>A (p.Ser1182=)
|
|
|
NM_025114.4(CEP290):c.3546C>G (p.Ser1182=)
|
rs760639256
|
|
NM_025114.4(CEP290):c.3546C>T (p.Ser1182=)
|
|
|
NM_025114.4(CEP290):c.354C>T (p.Cys118=)
|
rs370725951
|
|
NM_025114.4(CEP290):c.3552A>G (p.Arg1184=)
|
rs2137302452
|
|
NM_025114.4(CEP290):c.3558A>G (p.Gln1186=)
|
rs1189042096
|
|
NM_025114.4(CEP290):c.3573+10G>T
|
|
|
NM_025114.4(CEP290):c.3573+13T>C
|
rs2137301378
|
|
NM_025114.4(CEP290):c.3573+17C>A
|
|
|
NM_025114.4(CEP290):c.3573+7G>T
|
rs2137301511
|
|
NM_025114.4(CEP290):c.3574-15T>G
|
rs565414938
|
|
NM_025114.4(CEP290):c.3574-16_3574-15insA
|
|
|
NM_025114.4(CEP290):c.3574-17A>G
|
|
|
NM_025114.4(CEP290):c.3574-19A>G
|
rs2137281532
|
|
NM_025114.4(CEP290):c.3574-20T>A
|
|
|
NM_025114.4(CEP290):c.3574-5A>G
|
rs2036853648
|
|
NM_025114.4(CEP290):c.3574-7A>T
|
|
|
NM_025114.4(CEP290):c.3574-7del
|
|
|
NM_025114.4(CEP290):c.3591G>A (p.Lys1197=)
|
|
|
NM_025114.4(CEP290):c.3603C>T (p.Ala1201=)
|
|
|
NM_025114.4(CEP290):c.3609G>A (p.Leu1203=)
|
|
|
NM_025114.4(CEP290):c.3624C>T (p.Val1208=)
|
rs1331516324
|
|
NM_025114.4(CEP290):c.3630T>G (p.Leu1210=)
|
|
|
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
|
|
|
NM_025114.4(CEP290):c.3651T>C (p.Ala1217=)
|
|
|
NM_025114.4(CEP290):c.3660G>A (p.Lys1220=)
|
|
|
NM_025114.4(CEP290):c.3669A>C (p.Ser1223=)
|
rs968207045
|
|
NM_025114.4(CEP290):c.3669A>G (p.Ser1223=)
|
|
|
NM_025114.4(CEP290):c.3675A>T (p.Thr1225=)
|
|
|
NM_025114.4(CEP290):c.3708G>A (p.Leu1236=)
|
|
|
NM_025114.4(CEP290):c.3714A>G (p.Leu1238=)
|
|
|
NM_025114.4(CEP290):c.3723A>G (p.Lys1241=)
|
rs1592856911
|
|
NM_025114.4(CEP290):c.3729T>C (p.Asp1243=)
|
|
|
NM_025114.4(CEP290):c.372A>G (p.Leu124=)
|
|
|
NM_025114.4(CEP290):c.3732A>G (p.Glu1244=)
|
rs2137277122
|
|
NM_025114.4(CEP290):c.3744T>C (p.Ala1248=)
|
rs2137276523
|
|
NM_025114.4(CEP290):c.3756T>C (p.Ala1252=)
|
|
|
NM_025114.4(CEP290):c.3780A>G (p.Ala1260=)
|
|
|
NM_025114.4(CEP290):c.3787C>T (p.Leu1263=)
|
rs370395204
|
|
NM_025114.4(CEP290):c.3807T>C (p.Ser1269=)
|
rs1405878362
|
|
NM_025114.4(CEP290):c.3810A>C (p.Leu1270=)
|
|
|
NM_025114.4(CEP290):c.3810A>T (p.Leu1270=)
|
|
|
NM_025114.4(CEP290):c.3831T>A (p.Ala1277=)
|
|
|
NM_025114.4(CEP290):c.3831T>C (p.Ala1277=)
|
|
|
NM_025114.4(CEP290):c.3832T>C (p.Leu1278=)
|
|
|
NM_025114.4(CEP290):c.3855G>A (p.Lys1285=)
|
rs766410040
|
|
NM_025114.4(CEP290):c.3867A>G (p.Thr1289=)
|
rs1387223378
|
|
NM_025114.4(CEP290):c.3879A>G (p.Leu1293=)
|
rs2137272114
|
|
NM_025114.4(CEP290):c.3885T>C (p.Asn1295=)
|
|
|
NM_025114.4(CEP290):c.3888C>T (p.Asp1296=)
|
rs2137271829
|
|
NM_025114.4(CEP290):c.3909A>G (p.Glu1303=)
|
rs2137271264
|
|
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=)
|
|
|
NM_025114.4(CEP290):c.3921T>C (p.Ser1307=)
|
rs369567962
|
|
NM_025114.4(CEP290):c.3924A>G (p.Gln1308=)
|
rs2036816675
|
|
NM_025114.4(CEP290):c.3930A>G (p.Glu1310=)
|
rs775663498
|
|
NM_025114.4(CEP290):c.3945G>A (p.Glu1315=)
|
rs1367935035
|
|
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=)
|
rs1361449401
|
|
NM_025114.4(CEP290):c.3954A>G (p.Thr1318=)
|
|
|
NM_025114.4(CEP290):c.3967T>C (p.Leu1323=)
|
|
|
NM_025114.4(CEP290):c.3972A>G (p.Lys1324=)
|
rs2137269381
|
|
NM_025114.4(CEP290):c.3981C>G (p.Gly1327=)
|
|
|
NM_025114.4(CEP290):c.3987A>G (p.Glu1329=)
|
rs1224624148
|
|
NM_025114.4(CEP290):c.4008G>A (p.Lys1336=)
|
|
|
NM_025114.4(CEP290):c.4020A>C (p.Gly1340=)
|
|
|
NM_025114.4(CEP290):c.4029+14C>T
|
|
|
NM_025114.4(CEP290):c.4029+17G>A
|
|
|
NM_025114.4(CEP290):c.4029+17G>C
|
|
|
NM_025114.4(CEP290):c.4029+17G>T
|
|
|
NM_025114.4(CEP290):c.4029+7A>G
|
|
|
NM_025114.4(CEP290):c.4030-11G>A
|
|
|
NM_025114.4(CEP290):c.4030-14A>T
|
|
|
NM_025114.4(CEP290):c.4030-5del
|
rs2137252186
|
|
NM_025114.4(CEP290):c.4035C>A (p.Ile1345=)
|
|
|
NM_025114.4(CEP290):c.4038C>T (p.Asn1346=)
|
rs2137251909
|
|
NM_025114.4(CEP290):c.4044T>C (p.His1348=)
|
rs771298371
|
|
NM_025114.4(CEP290):c.4050A>G (p.Lys1350=)
|
|
|
NM_025114.4(CEP290):c.405A>G (p.Glu135=)
|
|
|
NM_025114.4(CEP290):c.4071A>G (p.Gln1357=)
|
|
|
NM_025114.4(CEP290):c.4074A>G (p.Glu1358=)
|
rs1031453040
|
|
NM_025114.4(CEP290):c.4077T>C (p.Leu1359=)
|
rs2137250800
|
|
NM_025114.4(CEP290):c.4087C>A (p.Arg1363=)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=)
|
rs1006145739
|
|
NM_025114.4(CEP290):c.4098C>A (p.Val1366=)
|
|
|
NM_025114.4(CEP290):c.4098C>T (p.Val1366=)
|
|
|
NM_025114.4(CEP290):c.4101G>A (p.Lys1367=)
|
|
|
NM_025114.4(CEP290):c.4110A>G (p.Glu1370=)
|
rs1190210677
|
|
NM_025114.4(CEP290):c.4116A>C (p.Ile1372=)
|
rs2137249532
|
|
NM_025114.4(CEP290):c.412T>C (p.Leu138=)
|
|
|
NM_025114.4(CEP290):c.4137T>C (p.Ile1379=)
|
|
|
NM_025114.4(CEP290):c.4152T>A (p.Arg1384=)
|
rs2137248717
|
|
NM_025114.4(CEP290):c.4167T>G (p.Leu1389=)
|
rs2137248362
|
|
NM_025114.4(CEP290):c.4176A>G (p.Glu1392=)
|
rs2137248119
|
|
NM_025114.4(CEP290):c.4179T>C (p.Ile1393=)
|
|
|
NM_025114.4(CEP290):c.4194+10T>C
|
|
|
NM_025114.4(CEP290):c.4194+11A>G
|
|
|
NM_025114.4(CEP290):c.4194+11A>T
|
|
|
NM_025114.4(CEP290):c.4194+13A>G
|
|
|
NM_025114.4(CEP290):c.4194+16T>C
|
|
|
NM_025114.4(CEP290):c.4194+17A>T
|
|
|
NM_025114.4(CEP290):c.4194+19T>G
|
|
|
NM_025114.4(CEP290):c.4194+8T>G
|
|
|
NM_025114.4(CEP290):c.4194+8_4194+12del
|
rs1223134777
|
|
NM_025114.4(CEP290):c.4195-13G>A
|
|
|
NM_025114.4(CEP290):c.4195-18A>G
|
|
|
NM_025114.4(CEP290):c.4195-19C>A
|
|
|
NM_025114.4(CEP290):c.4195-5T>C
|
rs1014066992
|
|
NM_025114.4(CEP290):c.4195-8T>C
|
rs2137221868
|
|
NM_025114.4(CEP290):c.4200T>C (p.His1400=)
|
rs2137221395
|
|
NM_025114.4(CEP290):c.4224T>C (p.Asp1408=)
|
rs2137220817
|
|
NM_025114.4(CEP290):c.4239C>T (p.Asp1413=)
|
|
|
NM_025114.4(CEP290):c.4240C>T (p.Leu1414=)
|
|
|
NM_025114.4(CEP290):c.4254A>G (p.Leu1418=)
|
|
|
NM_025114.4(CEP290):c.4263T>C (p.Phe1421=)
|
rs2137219486
|
|
NM_025114.4(CEP290):c.4285C>T (p.Leu1429=)
|
rs2137218765
|
|
NM_025114.4(CEP290):c.4296A>C (p.Ala1432=)
|
|
|
NM_025114.4(CEP290):c.4296A>G (p.Ala1432=)
|
rs2137218338
|
|
NM_025114.4(CEP290):c.4302+10A>G
|
|
|
NM_025114.4(CEP290):c.4302+12T>G
|
|
|
NM_025114.4(CEP290):c.4302+13A>G
|
|
|
NM_025114.4(CEP290):c.4302+19G>A
|
|
|
NM_025114.4(CEP290):c.4302+8T>C
|
|
|
NM_025114.4(CEP290):c.4302+9G>C
|
rs2137217907
|
|
NM_025114.4(CEP290):c.4303-12A>G
|
|
|
NM_025114.4(CEP290):c.4303-16T>C
|
|
|
NM_025114.4(CEP290):c.4303-18C>A
|
|
|
NM_025114.4(CEP290):c.4303-18C>T
|
|
|
NM_025114.4(CEP290):c.4303-6T>C
|
|
|
NM_025114.4(CEP290):c.4303-7T>C
|
|
|
NM_025114.4(CEP290):c.4305T>C (p.Phe1435=)
|
rs138095601
|
|
NM_025114.4(CEP290):c.4326C>T (p.Ile1442=)
|
|
|
NM_025114.4(CEP290):c.4338T>C (p.Ser1446=)
|
|
|
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
|
|
|
NM_025114.4(CEP290):c.435T>C (p.Asn145=)
|
rs2040367783
|
|
NM_025114.4(CEP290):c.4365C>A (p.Ile1455=)
|
rs552731286
|
|
NM_025114.4(CEP290):c.4371A>G (p.Leu1457=)
|
rs2137212322
|
|
NM_025114.4(CEP290):c.4380T>A (p.Ile1460=)
|
rs1014763442
|
|
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=)
|
|
|
NM_025114.4(CEP290):c.438G>A (p.Glu146=)
|
rs2138213152
|
|
NM_025114.4(CEP290):c.4402C>T (p.Leu1468=)
|
rs1565838540
|
|
NM_025114.4(CEP290):c.4407A>G (p.Glu1469=)
|
rs2137211343
|
|
NM_025114.4(CEP290):c.441+11T>C
|
|
|
NM_025114.4(CEP290):c.441+15T>G
|
|
|
NM_025114.4(CEP290):c.442-14_442-11del
|
|
|
NM_025114.4(CEP290):c.442-17T>A
|
rs2040048473
|
|
NM_025114.4(CEP290):c.442-18T>C
|
|
|
NM_025114.4(CEP290):c.442-19T>C
|
rs113132803
|
|
NM_025114.4(CEP290):c.442-19_442-18insA
|
|
|
NM_025114.4(CEP290):c.442-20T>A
|
|
|
NM_025114.4(CEP290):c.442-23_442-20del
|
rs746139755
|
|
NM_025114.4(CEP290):c.442-7A>G
|
rs1252546173
|
|
NM_025114.4(CEP290):c.442-8T>G
|
|
|
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=)
|
rs1206552589
|
|
NM_025114.4(CEP290):c.4429C>T (p.Leu1477=)
|
rs2137210634
|
|
NM_025114.4(CEP290):c.4437+10A>C
|
|
|
NM_025114.4(CEP290):c.4437+11G>T
|
|
|
NM_025114.4(CEP290):c.4437+17G>A
|
|
|
NM_025114.4(CEP290):c.4437+7A>T
|
rs2137210220
|
|
NM_025114.4(CEP290):c.4438-10A>C
|
|
|
NM_025114.4(CEP290):c.4438-12T>C
|
|
|
NM_025114.4(CEP290):c.4438-13_4438-9del
|
|
|
NM_025114.4(CEP290):c.4438-17T>C
|
|
|
NM_025114.4(CEP290):c.4438-4G>T
|
rs2036460485
|
|
NM_025114.4(CEP290):c.4438-8_4438-7del
|
rs2137190016
|
|
NM_025114.4(CEP290):c.4443A>G (p.Leu1481=)
|
rs2036459644
|
|
NM_025114.4(CEP290):c.4446A>G (p.Lys1482=)
|
|
|
NM_025114.4(CEP290):c.4473A>G (p.Ala1491=)
|
|
|
NM_025114.4(CEP290):c.447T>A (p.Ala149=)
|
rs2138114644
|
|
NM_025114.4(CEP290):c.447T>C (p.Ala149=)
|
|
|
NM_025114.4(CEP290):c.447T>G (p.Ala149=)
|
|
|
NM_025114.4(CEP290):c.4482T>C (p.Asn1494=)
|
rs2137188752
|
|
NM_025114.4(CEP290):c.4486C>T (p.Leu1496=)
|
rs1026690396
|
|
NM_025114.4(CEP290):c.4488G>A (p.Leu1496=)
|
rs2137188485
|
|
NM_025114.4(CEP290):c.4506C>T (p.Ile1502=)
|
rs1592837830
|
|
NM_025114.4(CEP290):c.4512A>G (p.Glu1504=)
|
rs1177088224
|
|
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=)
|
rs1481340734
|
|
NM_025114.4(CEP290):c.4515G>A (p.Leu1505=)
|
|
|
NM_025114.4(CEP290):c.4539A>C (p.Ala1513=)
|
rs750049263
|
|
NM_025114.4(CEP290):c.4539A>G (p.Ala1513=)
|
|
|
NM_025114.4(CEP290):c.4542A>G (p.Glu1514=)
|
rs765011862
|
|
NM_025114.4(CEP290):c.4548A>G (p.Glu1516=)
|
rs2137186609
|
|
NM_025114.4(CEP290):c.4551G>A (p.Lys1517=)
|
|
|
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=)
|
rs763991371
|
|
NM_025114.4(CEP290):c.4569C>T (p.Gly1523=)
|
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
NM_025114.4(CEP290):c.4590A>G (p.Lys1530=)
|
|
|
NM_025114.4(CEP290):c.4599C>T (p.His1533=)
|
rs932264519
|
|
NM_025114.4(CEP290):c.45A>G (p.Pro15=)
|
rs1383191175
|
|
NM_025114.4(CEP290):c.4603T>C (p.Leu1535=)
|
|
|
NM_025114.4(CEP290):c.4614T>G (p.Ala1538=)
|
|
|
NM_025114.4(CEP290):c.4629A>C (p.Ala1543=)
|
rs2137183853
|
|
NM_025114.4(CEP290):c.462G>A (p.Glu154=)
|
|
|
NM_025114.4(CEP290):c.4638A>G (p.Gln1546=)
|
|
|
NM_025114.4(CEP290):c.4644G>A (p.Arg1548=)
|
rs2137183393
|
|
NM_025114.4(CEP290):c.4650T>C (p.Asn1550=)
|
rs2137183194
|
|
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=)
|
rs2137183063
|
|
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=)
|
rs2137182509
|
|
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=)
|
|
|
NM_025114.4(CEP290):c.4683T>A (p.Arg1561=)
|
rs2137182194
|
|
NM_025114.4(CEP290):c.4683T>C (p.Arg1561=)
|
rs2137182194
|
|
NM_025114.4(CEP290):c.468A>G (p.Glu156=)
|
rs967600444
|
|
NM_025114.4(CEP290):c.4692A>G (p.Glu1564=)
|
rs2137181983
|
|
NM_025114.4(CEP290):c.4701A>G (p.Arg1567=)
|
rs2137181574
|
|
NM_025114.4(CEP290):c.4704+11A>T
|
|
|
NM_025114.4(CEP290):c.4704+12T>C
|
rs2137181292
|
|
NM_025114.4(CEP290):c.4704+13_4704+17del
|
|
|
NM_025114.4(CEP290):c.4704+19A>C
|
|
|
NM_025114.4(CEP290):c.4704+7T>C
|
|
|
NM_025114.4(CEP290):c.4705-12T>C
|
|
|
NM_025114.4(CEP290):c.4705-15T>C
|
|
|
NM_025114.4(CEP290):c.4705-17G>A
|
|
|
NM_025114.4(CEP290):c.4705-19T>G
|
|
|
NM_025114.4(CEP290):c.4705-7A>G
|
rs1367159797
|
|
NM_025114.4(CEP290):c.471T>C (p.Asn157=)
|
|
|
NM_025114.4(CEP290):c.4737A>G (p.Glu1579=)
|
rs2137169332
|
|
NM_025114.4(CEP290):c.4758C>T (p.His1586=)
|
rs896218309
|
|
NM_025114.4(CEP290):c.4785A>C (p.Ser1595=)
|
|
|
NM_025114.4(CEP290):c.4785A>G (p.Ser1595=)
|
|
|
NM_025114.4(CEP290):c.4788A>G (p.Leu1596=)
|
rs775682517
|
|
NM_025114.4(CEP290):c.4794A>G (p.Lys1598=)
|
rs760100036
|
|
NM_025114.4(CEP290):c.4806G>C (p.Thr1602=)
|
|
|
NM_025114.4(CEP290):c.4806G>T (p.Thr1602=)
|
rs201614215
|
|
NM_025114.4(CEP290):c.4812+15A>T
|
rs1011820485
|
|
NM_025114.4(CEP290):c.4812+18_4812+19del
|
rs1362916745
|
|
NM_025114.4(CEP290):c.4813-10T>C
|
|
|
NM_025114.4(CEP290):c.4813-11A>G
|
|
|
NM_025114.4(CEP290):c.4813-4A>G
|
rs2036324053
|
|
NM_025114.4(CEP290):c.4813-5T>C
|
rs2137156921
|
|
NM_025114.4(CEP290):c.4813-7T>A
|
rs2137156966
|
|
NM_025114.4(CEP290):c.4813-9A>G
|
|
|
NM_025114.4(CEP290):c.4815T>C (p.Asp1605=)
|
rs2137156688
|
|
NM_025114.4(CEP290):c.4833C>T (p.Pro1611=)
|
rs763271689
|
|
NM_025114.4(CEP290):c.4848C>A (p.Thr1616=)
|
|
|
NM_025114.4(CEP290):c.4857T>C (p.His1619=)
|
|
|
NM_025114.4(CEP290):c.4867C>T (p.Leu1623=)
|
|
|
NM_025114.4(CEP290):c.4887A>G (p.Thr1629=)
|
rs1179886652
|
|
NM_025114.4(CEP290):c.4899A>G (p.Gln1633=)
|
|
|
NM_025114.4(CEP290):c.4908T>G (p.Ser1636=)
|
|
|
NM_025114.4(CEP290):c.4914C>T (p.Ser1638=)
|
rs2137153390
|
|
NM_025114.4(CEP290):c.4926C>A (p.Val1642=)
|
|
|
NM_025114.4(CEP290):c.4926C>G (p.Val1642=)
|
|
|
NM_025114.4(CEP290):c.4944A>G (p.Ser1648=)
|
|
|
NM_025114.4(CEP290):c.4947A>G (p.Gln1649=)
|
rs2137152427
|
|
NM_025114.4(CEP290):c.495+16A>G
|
|
|
NM_025114.4(CEP290):c.495+7A>T
|
rs2138113223
|
|
NM_025114.4(CEP290):c.495+9T>A
|
|
|
NM_025114.4(CEP290):c.495+9T>G
|
rs2138113170
|
|
NM_025114.4(CEP290):c.4950T>C (p.Asp1650=)
|
|
|
NM_025114.4(CEP290):c.496-12C>T
|
rs2138102416
|
|
NM_025114.4(CEP290):c.4977A>G (p.Glu1659=)
|
|
|
NM_025114.4(CEP290):c.5010A>G (p.Leu1670=)
|
|
|
NM_025114.4(CEP290):c.5012+13A>G
|
|
|
NM_025114.4(CEP290):c.5012+19T>C
|
|
|
NM_025114.4(CEP290):c.5012+20T>A
|
|
|
NM_025114.4(CEP290):c.5012+20T>C
|
|
|
NM_025114.4(CEP290):c.5012+7C>A
|
|
|
NM_025114.4(CEP290):c.5012+7_5012+8del
|
rs2137150584
|
|
NM_025114.4(CEP290):c.5013-17_5013-16del
|
rs774225453
|
|
NM_025114.4(CEP290):c.5013-19A>G
|
|
|
NM_025114.4(CEP290):c.5013-20C>T
|
rs1299195353
|
|
NM_025114.4(CEP290):c.5013-30CA[5]
|
rs759447937
|
|
NM_025114.4(CEP290):c.5013-30CA[7]
|
|
|
NM_025114.4(CEP290):c.5013-6C>T
|
rs2137107114
|
|
NM_025114.4(CEP290):c.5013-7A>G
|
rs762217156
|
|
NM_025114.4(CEP290):c.5040G>A (p.Val1680=)
|
rs2137106401
|
|
NM_025114.4(CEP290):c.504T>C (p.Arg168=)
|
rs2138101728
|
|
NM_025114.4(CEP290):c.5055G>T (p.Ala1685=)
|
|
|
NM_025114.4(CEP290):c.5067T>C (p.Asp1689=)
|
rs2137105805
|
|
NM_025114.4(CEP290):c.507A>G (p.Leu169=)
|
rs2138101663
|
|
NM_025114.4(CEP290):c.5091A>G (p.Ser1697=)
|
|
|
NM_025114.4(CEP290):c.5097G>A (p.Lys1699=)
|
|
|
NM_025114.4(CEP290):c.5100G>A (p.Glu1700=)
|
rs2137104806
|
|
NM_025114.4(CEP290):c.5103A>G (p.Ser1701=)
|
rs2137104709
|
|
NM_025114.4(CEP290):c.5109T>C (p.Cys1703=)
|
|
|
NM_025114.4(CEP290):c.5121A>G (p.Glu1707=)
|
rs2137104323
|
|
NM_025114.4(CEP290):c.5130T>C (p.Ala1710=)
|
|
|
NM_025114.4(CEP290):c.5157A>G (p.Pro1719=)
|
rs1215659876
|
|
NM_025114.4(CEP290):c.516+10T>G
|
rs2138101103
|
|
NM_025114.4(CEP290):c.516+12A>C
|
|
|
NM_025114.4(CEP290):c.516+13G>A
|
|
|
NM_025114.4(CEP290):c.516+15G>A
|
|
|
NM_025114.4(CEP290):c.516+19T>A
|
|
|
NM_025114.4(CEP290):c.516+9T>C
|
rs771222198
|
|
NM_025114.4(CEP290):c.5166A>G (p.Thr1722=)
|
rs970862392
|
|
NM_025114.4(CEP290):c.517-18G>T
|
|
|
NM_025114.4(CEP290):c.517-5T>G
|
|
|
NM_025114.4(CEP290):c.517-6C>T
|
|
|
NM_025114.4(CEP290):c.5178A>G (p.Leu1726=)
|
rs2137102455
|
|
NM_025114.4(CEP290):c.5181A>G (p.Val1727=)
|
rs1002651698
|
|
NM_025114.4(CEP290):c.5187G>A (p.Arg1729=)
|
|
|
NM_025114.4(CEP290):c.5190A>G (p.Leu1730=)
|
rs1203367950
|
|
NM_025114.4(CEP290):c.5193G>A (p.Lys1731=)
|
rs2137101998
|
|
NM_025114.4(CEP290):c.519T>C (p.Asn173=)
|
|
|
NM_025114.4(CEP290):c.51C>T (p.Asp17=)
|
rs2138305629
|
|
NM_025114.4(CEP290):c.5205C>T (p.Ala1735=)
|
|
|
NM_025114.4(CEP290):c.5226+11_5226+13del
|
|
|
NM_025114.4(CEP290):c.5226+12_5226+16del
|
|
|
NM_025114.4(CEP290):c.5226+18A>C
|
|
|
NM_025114.4(CEP290):c.5226+7A>G
|
rs2036089729
|
|
NM_025114.4(CEP290):c.5226+7_5226+8insGAC
|
rs2036089498
|
|
NM_025114.4(CEP290):c.5226+9C>G
|
rs2137100623
|
|
NM_025114.4(CEP290):c.5226+9C>T
|
|
|
NM_025114.4(CEP290):c.5227-13G>C
|
|
|
NM_025114.4(CEP290):c.5227-15T>G
|
|
|
NM_025114.4(CEP290):c.5227-4T>G
|
rs2137083466
|
|
NM_025114.4(CEP290):c.5236C>A (p.Arg1746=)
|
rs774427529
|
|
NM_025114.4(CEP290):c.5241A>C (p.Ala1747=)
|
|
|
NM_025114.4(CEP290):c.5250A>G (p.Glu1750=)
|
|
|
NM_025114.4(CEP290):c.5254C>A (p.Arg1752=)
|
rs748471942
|
|
NM_025114.4(CEP290):c.5259A>G (p.Ala1753=)
|
|
|
NM_025114.4(CEP290):c.525A>G (p.Gln175=)
|
rs2039993836
|
|
NM_025114.4(CEP290):c.5268A>G (p.Thr1756=)
|
|
|
NM_025114.4(CEP290):c.5277T>C (p.Ala1759=)
|
|
|
NM_025114.4(CEP290):c.5298A>C (p.Ala1766=)
|
rs2137081487
|
|
NM_025114.4(CEP290):c.52C>T (p.Leu18=)
|
rs2138305571
|
|
NM_025114.4(CEP290):c.5301T>G (p.Thr1767=)
|
rs891496300
|
|
NM_025114.4(CEP290):c.5313G>A (p.Glu1771=)
|
rs2137081165
|
|
NM_025114.4(CEP290):c.5319T>C (p.His1773=)
|
|
|
NM_025114.4(CEP290):c.5340T>C (p.Val1780=)
|
rs2137080571
|
|
NM_025114.4(CEP290):c.5346A>G (p.Arg1782=)
|
|
|
NM_025114.4(CEP290):c.534G>A (p.Gln178=)
|
|
|
NM_025114.4(CEP290):c.5364+14C>A
|
|
|
NM_025114.4(CEP290):c.5364+15G>A
|
|
|
NM_025114.4(CEP290):c.5364+17G>A
|
|
|
NM_025114.4(CEP290):c.5364+8T>A
|
rs2137079741
|
|
NM_025114.4(CEP290):c.5364+8T>G
|
|
|
NM_025114.4(CEP290):c.5364+9C>T
|
rs2137079700
|
|
NM_025114.4(CEP290):c.5365-12T>G
|
|
|
NM_025114.4(CEP290):c.5365-17dup
|
|
|
NM_025114.4(CEP290):c.5365-8C>T
|
|
|
NM_025114.4(CEP290):c.5365-9T>C
|
|
|
NM_025114.4(CEP290):c.5367A>T (p.Thr1789=)
|
|
|
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=)
|
rs1034544936
|
|
NM_025114.4(CEP290):c.5409A>G (p.Glu1803=)
|
|
|
NM_025114.4(CEP290):c.5421A>C (p.Thr1807=)
|
|
|
NM_025114.4(CEP290):c.5439C>T (p.Asn1813=)
|
rs2137059444
|
|
NM_025114.4(CEP290):c.5445A>C (p.Leu1815=)
|
rs1401075815
|
|
NM_025114.4(CEP290):c.5455T>C (p.Leu1819=)
|
|
|
NM_025114.4(CEP290):c.5460T>C (p.Asn1820=)
|
|
|
NM_025114.4(CEP290):c.5499T>C (p.Tyr1833=)
|
|
|
NM_025114.4(CEP290):c.54G>A (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.54G>C (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.5508A>T (p.Ile1836=)
|
|
|
NM_025114.4(CEP290):c.5517G>A (p.Glu1839=)
|
|
|
NM_025114.4(CEP290):c.5529T>A (p.Ile1843=)
|
|
|
NM_025114.4(CEP290):c.552G>A (p.Gln184=)
|
|
|
NM_025114.4(CEP290):c.5535A>G (p.Gln1845=)
|
|
|
NM_025114.4(CEP290):c.5538G>A (p.Glu1846=)
|
|
|
NM_025114.4(CEP290):c.5559A>G (p.Gln1853=)
|
rs2035884341
|
|
NM_025114.4(CEP290):c.555A>G (p.Lys185=)
|
rs2138097181
|
|
NM_025114.4(CEP290):c.5574C>G (p.Thr1858=)
|
|
|
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=)
|
rs775652694
|
|
NM_025114.4(CEP290):c.5581T>C (p.Leu1861=)
|
|
|
NM_025114.4(CEP290):c.5586+12T>C
|
|
|
NM_025114.4(CEP290):c.5586+14T>G
|
|
|
NM_025114.4(CEP290):c.5586+17C>T
|
rs2137055900
|
|
NM_025114.4(CEP290):c.5586+19C>T
|
|
|
NM_025114.4(CEP290):c.5587-10T>A
|
rs1592805772
|
|
NM_025114.4(CEP290):c.5587-12T>G
|
|
|
NM_025114.4(CEP290):c.5587-15C>T
|
|
|
NM_025114.4(CEP290):c.5587-16dup
|
|
|
NM_025114.4(CEP290):c.5587-19G>A
|
|
|
NM_025114.4(CEP290):c.5587-7T>A
|
|
|
NM_025114.4(CEP290):c.5587-9A>C
|
rs2035856064
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=)
|
rs2035852547
|
|
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=)
|
rs754796813
|
|
NM_025114.4(CEP290):c.5631C>T (p.Leu1877=)
|
rs2137050526
|
|
NM_025114.4(CEP290):c.5634A>G (p.Gln1878=)
|
|
|
NM_025114.4(CEP290):c.5649A>G (p.Lys1883=)
|
rs2137050153
|
|
NM_025114.4(CEP290):c.5658C>T (p.Asn1886=)
|
|
|
NM_025114.4(CEP290):c.5676G>A (p.Val1892=)
|
rs2137049568
|
|
NM_025114.4(CEP290):c.567A>G (p.Ser189=)
|
|
|
NM_025114.4(CEP290):c.5682A>G (p.Glu1894=)
|
|
|
NM_025114.4(CEP290):c.5689C>T (p.Leu1897=)
|
rs2137049271
|
|
NM_025114.4(CEP290):c.5691A>G (p.Leu1897=)
|
|
|
NM_025114.4(CEP290):c.5709+12A>T
|
|
|
NM_025114.4(CEP290):c.5709+14C>A
|
|
|
NM_025114.4(CEP290):c.5709+17A>C
|
|
|
NM_025114.4(CEP290):c.5709+7G>A
|
|
|
NM_025114.4(CEP290):c.5710-13G>A
|
|
|
NM_025114.4(CEP290):c.5710-18C>G
|
|
|
NM_025114.4(CEP290):c.5710-7_5710-5del
|
|
|
NM_025114.4(CEP290):c.5710-9T>C
|
|
|
NM_025114.4(CEP290):c.5715T>C (p.Ala1905=)
|
|
|
NM_025114.4(CEP290):c.5739A>G (p.Glu1913=)
|
|
|
NM_025114.4(CEP290):c.5745T>C (p.Gly1915=)
|
rs2035404611
|
|
NM_025114.4(CEP290):c.5757A>G (p.Gln1919=)
|
|
|
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=)
|
rs1027531979
|
|
NM_025114.4(CEP290):c.5775T>C (p.Ile1925=)
|
|
|
NM_025114.4(CEP290):c.5784G>A (p.Lys1928=)
|
rs2136964688
|
|
NM_025114.4(CEP290):c.5796A>G (p.Lys1932=)
|
|
|
NM_025114.4(CEP290):c.5799G>A (p.Glu1933=)
|
rs2136964287
|
|
NM_025114.4(CEP290):c.57C>G (p.Pro19=)
|
|
|
NM_025114.4(CEP290):c.57C>T (p.Pro19=)
|
|
|
NM_025114.4(CEP290):c.5802G>A (p.Gly1934=)
|
|
|
NM_025114.4(CEP290):c.5805A>G (p.Glu1935=)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.5811T>C (p.Phe1937=)
|
|
|
NM_025114.4(CEP290):c.5823G>A (p.Lys1941=)
|
|
|
NM_025114.4(CEP290):c.5829G>A (p.Leu1943=)
|
rs1195022621
|
|
NM_025114.4(CEP290):c.5838G>A (p.Leu1946=)
|
|
|
NM_025114.4(CEP290):c.5841G>A (p.Lys1947=)
|
rs2136963237
|
|
NM_025114.4(CEP290):c.5853C>A (p.Ala1951=)
|
rs2136962808
|
|
NM_025114.4(CEP290):c.5853C>G (p.Ala1951=)
|
rs2136962808
|
|
NM_025114.4(CEP290):c.5853C>T (p.Ala1951=)
|
|
|
NM_025114.4(CEP290):c.5855+11A>C
|
|
|
NM_025114.4(CEP290):c.5855+11A>G
|
|
|
NM_025114.4(CEP290):c.5855+18T>A
|
|
|
NM_025114.4(CEP290):c.5855+18_5855+20del
|
rs1442503417
|
|
NM_025114.4(CEP290):c.5856-13T>C
|
|
|
NM_025114.4(CEP290):c.5856-14A>G
|
|
|
NM_025114.4(CEP290):c.5856-16A>C
|
|
|
NM_025114.4(CEP290):c.5856-16A>G
|
|
|
NM_025114.4(CEP290):c.5856-16A>T
|
rs372444243
|
|
NM_025114.4(CEP290):c.585A>G (p.Leu195=)
|
rs2138096227
|
|
NM_025114.4(CEP290):c.5868G>A (p.Glu1956=)
|
|
|
NM_025114.4(CEP290):c.5889A>G (p.Lys1963=)
|
|
|
NM_025114.4(CEP290):c.5892A>G (p.Leu1964=)
|
rs2136957684
|
|
NM_025114.4(CEP290):c.5901T>C (p.Thr1967=)
|
|
|
NM_025114.4(CEP290):c.5910T>C (p.Thr1970=)
|
rs2136957326
|
|
NM_025114.4(CEP290):c.5925G>A (p.Leu1975=)
|
|
|
NM_025114.4(CEP290):c.5943G>A (p.Glu1981=)
|
|
|
NM_025114.4(CEP290):c.594A>G (p.Arg198=)
|
|
|
NM_025114.4(CEP290):c.5956T>C (p.Leu1986=)
|
|
|
NM_025114.4(CEP290):c.5970A>G (p.Lys1990=)
|
|
|
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
|
|
|
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)
|
rs112738303
|
|
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=)
|
rs2035355059
|
|
NM_025114.4(CEP290):c.6011+13G>T
|
|
|
NM_025114.4(CEP290):c.6011+14_6011+15del
|
rs1565811649
|
|
NM_025114.4(CEP290):c.6011+15G>A
|
|
|
NM_025114.4(CEP290):c.6011+7dup
|
|
|
NM_025114.4(CEP290):c.6011+8A>G
|
|
|
NM_025114.4(CEP290):c.6012-11G>A
|
|
|
NM_025114.4(CEP290):c.6012-13_6012-12insA
|
|
|
NM_025114.4(CEP290):c.6012-14A>G
|
|
|
NM_025114.4(CEP290):c.6012-18T>C
|
rs2035130236
|
|
NM_025114.4(CEP290):c.6012-4A>C
|
rs760029406
|
|
NM_025114.4(CEP290):c.6012-4A>G
|
|
|
NM_025114.4(CEP290):c.6012-5C>A
|
|
|
NM_025114.4(CEP290):c.6012-9T>C
|
rs2136914044
|
|
NM_025114.4(CEP290):c.6030T>A (p.Pro2010=)
|
|
|
NM_025114.4(CEP290):c.603C>T (p.Asp201=)
|
|
|
NM_025114.4(CEP290):c.6042T>C (p.Val2014=)
|
rs2035125225
|
|
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=)
|
rs2136912612
|
|
NM_025114.4(CEP290):c.6057T>C (p.His2019=)
|
|
|
NM_025114.4(CEP290):c.6060A>G (p.Leu2020=)
|
rs2035122755
|
|
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
|
rs764861728
|
|
NM_025114.4(CEP290):c.6084A>G (p.Lys2028=)
|
rs2136911467
|
|
NM_025114.4(CEP290):c.6087T>A (p.Leu2029=)
|
rs1592770859
|
|
NM_025114.4(CEP290):c.6087T>C (p.Leu2029=)
|
|
|
NM_025114.4(CEP290):c.6102A>G (p.Lys2034=)
|
rs752291080
|
|
NM_025114.4(CEP290):c.6105G>A (p.Gln2035=)
|
rs754426182
|
|
NM_025114.4(CEP290):c.6120A>T (p.Thr2040=)
|
rs766265410
|
|
NM_025114.4(CEP290):c.6135+10T>C
|
rs371097588
|
|
NM_025114.4(CEP290):c.6135+13C>G
|
|
|
NM_025114.4(CEP290):c.6135+15T>C
|
|
|
NM_025114.4(CEP290):c.6135+19T>C
|
|
|
NM_025114.4(CEP290):c.6135+9A>C
|
|
|
NM_025114.4(CEP290):c.6135+9A>G
|
|
|
NM_025114.4(CEP290):c.6136-13C>A
|
|
|
NM_025114.4(CEP290):c.6136-6C>G
|
|
|
NM_025114.4(CEP290):c.6136-8C>T
|
|
|
NM_025114.4(CEP290):c.6138T>A (p.Ile2046=)
|
|
|
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=)
|
rs779553989
|
|
NM_025114.4(CEP290):c.615A>T (p.Arg205=)
|
|
|
NM_025114.4(CEP290):c.6162T>C (p.His2054=)
|
rs867670449
|
|
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)
|
rs2034700190
|
|
NM_025114.4(CEP290):c.6192A>G (p.Glu2064=)
|
rs1565798798
|
|
NM_025114.4(CEP290):c.6196T>C (p.Leu2066=)
|
rs2136814010
|
|
NM_025114.4(CEP290):c.6204G>A (p.Leu2068=)
|
|
|
NM_025114.4(CEP290):c.6207A>T (p.Ser2069=)
|
rs1327169453
|
|
NM_025114.4(CEP290):c.6216T>C (p.Asn2072=)
|
|
|
NM_025114.4(CEP290):c.621G>A (p.Gln207=)
|
|
|
NM_025114.4(CEP290):c.6225G>C (p.Leu2075=)
|
|
|
NM_025114.4(CEP290):c.6234G>A (p.Gln2078=)
|
|
|
NM_025114.4(CEP290):c.6258G>A (p.Leu2086=)
|
|
|
NM_025114.4(CEP290):c.6261A>C (p.Pro2087=)
|
|
|
NM_025114.4(CEP290):c.6261A>G (p.Pro2087=)
|
rs2136812192
|
|
NM_025114.4(CEP290):c.6270+12G>A
|
|
|
NM_025114.4(CEP290):c.6270+17T>G
|
rs1473886719
|
|
NM_025114.4(CEP290):c.6270+19del
|
|
|
NM_025114.4(CEP290):c.6270+9A>G
|
rs2136811401
|
|
NM_025114.4(CEP290):c.6271-11T>C
|
|
|
NM_025114.4(CEP290):c.6271-13T>G
|
|
|
NM_025114.4(CEP290):c.6271-16G>A
|
|
|
NM_025114.4(CEP290):c.6271-9A>T
|
|
|
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=)
|
rs2136785499
|
|
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=)
|
rs1213494233
|
|
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=)
|
|
|
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=)
|
|
|
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=)
|
rs1475220538
|
|
NM_025114.4(CEP290):c.6348T>C (p.His2116=)
|
|
|
NM_025114.4(CEP290):c.6351T>C (p.Val2117=)
|
rs2136784239
|
|
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=)
|
rs762397066
|
|
NM_025114.4(CEP290):c.6357+11A>C
|
|
|
NM_025114.4(CEP290):c.6357+16C>T
|
|
|
NM_025114.4(CEP290):c.6357+17C>T
|
|
|
NM_025114.4(CEP290):c.6357+20A>G
|
|
|
NM_025114.4(CEP290):c.6357+9_6357+14del
|
|
|
NM_025114.4(CEP290):c.6358-11T>C
|
|
|
NM_025114.4(CEP290):c.6358-13T>C
|
rs1355948965
|
|
NM_025114.4(CEP290):c.6358-14A>G
|
|
|
NM_025114.4(CEP290):c.6358-16del
|
|
|
NM_025114.4(CEP290):c.6358-18_6358-15del
|
|
|
NM_025114.4(CEP290):c.6358-20T>C
|
|
|
NM_025114.4(CEP290):c.6358-6T>C
|
|
|
NM_025114.4(CEP290):c.6358-7T>C
|
rs1323070560
|
|
NM_025114.4(CEP290):c.6363T>C (p.Gly2121=)
|
rs2136752914
|
|
NM_025114.4(CEP290):c.6369T>C (p.Ser2123=)
|
rs750473077
|
|
NM_025114.4(CEP290):c.6372A>G (p.Gly2124=)
|
|
|
NM_025114.4(CEP290):c.6384A>G (p.Pro2128=)
|
|
|
NM_025114.4(CEP290):c.6387A>G (p.Glu2129=)
|
|
|
NM_025114.4(CEP290):c.6388C>T (p.Leu2130=)
|
|
|
NM_025114.4(CEP290):c.6420A>G (p.Val2140=)
|
rs2034432859
|
|
NM_025114.4(CEP290):c.642G>A (p.Glu214=)
|
rs2138094419
|
|
NM_025114.4(CEP290):c.6432C>A (p.Val2144=)
|
|
|
NM_025114.4(CEP290):c.6438A>G (p.Arg2146=)
|
|
|
NM_025114.4(CEP290):c.6468A>G (p.Gly2156=)
|
|
|
NM_025114.4(CEP290):c.6472T>C (p.Leu2158=)
|
|
|
NM_025114.4(CEP290):c.6474G>A (p.Leu2158=)
|
rs2034427417
|
|
NM_025114.4(CEP290):c.648C>A (p.Ile216=)
|
rs748527265
|
|
NM_025114.4(CEP290):c.6517T>C (p.Leu2173=)
|
|
|
NM_025114.4(CEP290):c.6522+13A>T
|
|
|
NM_025114.4(CEP290):c.6522+13_6522+14insC
|
|
|
NM_025114.4(CEP290):c.6522+14_6522+15insC
|
|
|
NM_025114.4(CEP290):c.6522+16G>A
|
|
|
NM_025114.4(CEP290):c.6522+18G>C
|
|
|
NM_025114.4(CEP290):c.6522+19A>T
|
|
|
NM_025114.4(CEP290):c.6522+6_6522+7insC
|
|
|
NM_025114.4(CEP290):c.6522+8_6522+9insA
|
|
|
NM_025114.4(CEP290):c.6523-12T>C
|
rs761172645
|
|
NM_025114.4(CEP290):c.6523-12T>G
|
|
|
NM_025114.4(CEP290):c.6523-13G>T
|
|
|
NM_025114.4(CEP290):c.6523-13_6523-10del
|
rs779782832
|
|
NM_025114.4(CEP290):c.6523-14T>C
|
|
|
NM_025114.4(CEP290):c.6523-14T>G
|
|
|
NM_025114.4(CEP290):c.6523-17_6523-15del
|
rs751359519
|
|
NM_025114.4(CEP290):c.6523-18T>C
|
|
|
NM_025114.4(CEP290):c.6523-18T>G
|
rs954082831
|
|
NM_025114.4(CEP290):c.6523-22_6523-18del
|
rs2034347330
|
|
NM_025114.4(CEP290):c.6523-8T>C
|
|
|
NM_025114.4(CEP290):c.6523-9T>G
|
|
|
NM_025114.4(CEP290):c.6561G>A (p.Gln2187=)
|
rs2136727209
|
|
NM_025114.4(CEP290):c.6579A>G (p.Glu2193=)
|
|
|
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=)
|
rs1592739990
|
|
NM_025114.4(CEP290):c.6585G>A (p.Lys2195=)
|
|
|
NM_025114.4(CEP290):c.6588C>T (p.Thr2196=)
|
|
|
NM_025114.4(CEP290):c.6600A>G (p.Glu2200=)
|
rs2136725980
|
|
NM_025114.4(CEP290):c.6606T>A (p.Ile2202=)
|
|
|
NM_025114.4(CEP290):c.6606T>C (p.Ile2202=)
|
|
|
NM_025114.4(CEP290):c.6624G>A (p.Arg2208=)
|
|
|
NM_025114.4(CEP290):c.6645+7C>T
|
rs762527255
|
|
NM_025114.4(CEP290):c.6646-10T>C
|
rs2136707145
|
|
NM_025114.4(CEP290):c.6646-16del
|
|
|
NM_025114.4(CEP290):c.6646-17T>C
|
|
|
NM_025114.4(CEP290):c.6646-4A>G
|
|
|
NM_025114.4(CEP290):c.6646-9T>C
|
|
|
NM_025114.4(CEP290):c.6672G>A (p.Arg2224=)
|
|
|
NM_025114.4(CEP290):c.669+15A>G
|
|
|
NM_025114.4(CEP290):c.669+16G>A
|
rs1408808578
|
|
NM_025114.4(CEP290):c.669+20A>T
|
|
|
NM_025114.4(CEP290):c.669+6dup
|
rs761225874
|
|
NM_025114.4(CEP290):c.669+8G>A
|
rs768408897
|
|
NM_025114.4(CEP290):c.669+9G>A
|
rs746701712
|
|
NM_025114.4(CEP290):c.669+9G>T
|
rs746701712
|
|
NM_025114.4(CEP290):c.6693G>A (p.Glu2231=)
|
rs2136706174
|
|
NM_025114.4(CEP290):c.670-13T>C
|
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|
NM_025114.4(CEP290):c.670-7T>G
|
|
|
NM_025114.4(CEP290):c.670-9C>T
|
|
|
NM_025114.4(CEP290):c.6714A>C (p.Thr2238=)
|
rs1293521533
|
|
NM_025114.4(CEP290):c.6721C>T (p.Leu2241=)
|
|
|
NM_025114.4(CEP290):c.6742T>C (p.Leu2248=)
|
|
|
NM_025114.4(CEP290):c.6744G>A (p.Leu2248=)
|
rs2136705270
|
|
NM_025114.4(CEP290):c.6753A>G (p.Ala2251=)
|
rs2136704965
|
|
NM_025114.4(CEP290):c.6756A>G (p.Glu2252=)
|
rs750070359
|
|
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)
|
rs2034234195
|
|
NM_025114.4(CEP290):c.6777A>G (p.Glu2259=)
|
|
|
NM_025114.4(CEP290):c.6804C>G (p.Ser2268=)
|
rs775553764
|
|
NM_025114.4(CEP290):c.6818+10G>C
|
|
|
NM_025114.4(CEP290):c.6818+20C>T
|
|
|
NM_025114.4(CEP290):c.6819-10A>C
|
rs150241790
|
|
NM_025114.4(CEP290):c.6819-11T>C
|
rs2136657156
|
|
NM_025114.4(CEP290):c.6819-5T>A
|
|
|
NM_025114.4(CEP290):c.6819-6T>C
|
rs2136656943
|
|
NM_025114.4(CEP290):c.6819-7C>T
|
|
|
NM_025114.4(CEP290):c.6831C>A (p.Thr2277=)
|
|
|
NM_025114.4(CEP290):c.6831C>T (p.Thr2277=)
|
|
|
NM_025114.4(CEP290):c.6837A>G (p.Leu2279=)
|
rs2136656585
|
|
NM_025114.4(CEP290):c.6846G>A (p.Leu2282=)
|
|
|
NM_025114.4(CEP290):c.6879T>C (p.Ile2293=)
|
rs1592725976
|
|
NM_025114.4(CEP290):c.687T>C (p.Asn229=)
|
rs2138087198
|
|
NM_025114.4(CEP290):c.6924A>G (p.Gln2308=)
|
rs2033935023
|
|
NM_025114.4(CEP290):c.6942T>C (p.Asn2314=)
|
rs2136654318
|
|
NM_025114.4(CEP290):c.6951T>A (p.Leu2317=)
|
|
|
NM_025114.4(CEP290):c.6954A>G (p.Glu2318=)
|
rs2136653946
|
|
NM_025114.4(CEP290):c.6960+14T>G
|
|
|
NM_025114.4(CEP290):c.6960+9C>A
|
|
|
NM_025114.4(CEP290):c.6960+9_6960+13del
|
|
|
NM_025114.4(CEP290):c.6961-10G>A
|
|
|
NM_025114.4(CEP290):c.6961-12T>C
|
|
|
NM_025114.4(CEP290):c.6961-18T>C
|
|
|
NM_025114.4(CEP290):c.6961-5dup
|
rs2033832669
|
|
NM_025114.4(CEP290):c.6961-6T>C
|
rs768947002
|
|
NM_025114.4(CEP290):c.6969T>A (p.Ile2323=)
|
rs2136637133
|
|
NM_025114.4(CEP290):c.6972T>C (p.Leu2324=)
|
|
|
NM_025114.4(CEP290):c.6978T>C (p.His2326=)
|
rs775641877
|
|
NM_025114.4(CEP290):c.6981T>C (p.Val2327=)
|
|
|
NM_025114.4(CEP290):c.6987A>G (p.Glu2329=)
|
rs2136636831
|
|
NM_025114.4(CEP290):c.6993T>A (p.Ala2331=)
|
rs2136636592
|
|
NM_025114.4(CEP290):c.6999A>C (p.Thr2333=)
|
|
|
NM_025114.4(CEP290):c.6A>C (p.Pro2=)
|
|
|
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=)
|
rs1592722143
|
|
NM_025114.4(CEP290):c.7034+13_7034+15del
|
|
|
NM_025114.4(CEP290):c.7034+19T>A
|
|
|
NM_025114.4(CEP290):c.7034+19T>C
|
|
|
NM_025114.4(CEP290):c.7034+8A>C
|
rs1209334887
|
|
NM_025114.4(CEP290):c.7034+8A>G
|
|
|
NM_025114.4(CEP290):c.7035-11T>C
|
|
|
NM_025114.4(CEP290):c.7035-12A>G
|
|
|
NM_025114.4(CEP290):c.7035-14T>C
|
|
|
NM_025114.4(CEP290):c.7035-15A>G
|
|
|
NM_025114.4(CEP290):c.7035-18A>G
|
|
|
NM_025114.4(CEP290):c.7035-19C>T
|
|
|
NM_025114.4(CEP290):c.7035-7G>T
|
|
|
NM_025114.4(CEP290):c.7035-9G>A
|
rs2136625815
|
|
NM_025114.4(CEP290):c.7036T>C (p.Leu2346=)
|
|
|
NM_025114.4(CEP290):c.7077C>A (p.Ile2359=)
|
|
|
NM_025114.4(CEP290):c.7113T>C (p.Ala2371=)
|
|
|
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=)
|
rs2136623871
|
|
NM_025114.4(CEP290):c.711A>G (p.Gln237=)
|
|
|
NM_025114.4(CEP290):c.7129+10T>C
|
rs2136623387
|
|
NM_025114.4(CEP290):c.7129+13A>T
|
|
|
NM_025114.4(CEP290):c.7129+20A>G
|
|
|
NM_025114.4(CEP290):c.7129+20_7129+21del
|
|
|
NM_025114.4(CEP290):c.7129+8A>G
|
rs2136623486
|
|
NM_025114.4(CEP290):c.7129+9T>G
|
|
|
NM_025114.4(CEP290):c.7130-18G>A
|
|
|
NM_025114.4(CEP290):c.7130-18G>C
|
rs1258894576
|
|
NM_025114.4(CEP290):c.7130-6C>G
|
|
|
NM_025114.4(CEP290):c.7130-6C>T
|
rs1267739576
|
|
NM_025114.4(CEP290):c.7130-8_7130-7del
|
rs1555193620
|
|
NM_025114.4(CEP290):c.7134T>C (p.Ala2378=)
|
|
|
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=)
|
|
|
NM_025114.4(CEP290):c.7161T>C (p.Asp2387=)
|
rs1419407850
|
|
NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)
|
|
|
NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)
|
|
|
NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)
|
|
|
NM_025114.4(CEP290):c.7179A>G (p.Lys2393=)
|
rs2136564522
|
|
NM_025114.4(CEP290):c.7188T>C (p.Asp2396=)
|
rs1373327829
|
|
NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)
|
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_025114.4(CEP290):c.7209+11_7209+16del
|
rs1480154927
|
|
NM_025114.4(CEP290):c.7209+7T>C
|
rs745813087
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.7209+7_7209+10del
|
|
|
NM_025114.4(CEP290):c.7209+9_7209+13del
|
|
|
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=)
|
rs1592705118
|
|
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=)
|
|
|
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=)
|
rs2136547545
|
|
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=)
|
rs2136547270
|
|
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=)
|
|
|
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=)
|
rs2136546932
|
|
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=)
|
|
|
NM_025114.4(CEP290):c.729A>G (p.Leu243=)
|
rs1349591192
|
|
NM_025114.4(CEP290):c.7305G>C (p.Val2435=)
|
|
|
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=)
|
rs2136545903
|
|
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=)
|
|
|
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=)
|
rs1592704594
|
|
NM_025114.4(CEP290):c.732A>G (p.Glu244=)
|
rs2138086280
|
|
NM_025114.4(CEP290):c.7335A>C (p.Val2445=)
|
|
|
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=)
|
|
|
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=)
|
rs2136544711
|
|
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=)
|
|
|
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=)
|
|
|
NM_025114.4(CEP290):c.7380T>A (p.Val2460=)
|
|
|
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=)
|
|
|
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=)
|
|
|
NM_025114.4(CEP290):c.741A>G (p.Val247=)
|
rs2138085914
|
|
NM_025114.4(CEP290):c.7422T>C (p.Val2474=)
|
|
|
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=)
|
rs2136543130
|
|
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=)
|
rs2136542833
|
|
NM_025114.4(CEP290):c.75A>G (p.Ala25=)
|
rs2138304637
|
|
NM_025114.4(CEP290):c.768A>G (p.Glu256=)
|
|
|
NM_025114.4(CEP290):c.792G>A (p.Val264=)
|
|
|
NM_025114.4(CEP290):c.810A>G (p.Val270=)
|
|
|
NM_025114.4(CEP290):c.816T>C (p.Asp272=)
|
|
|
NM_025114.4(CEP290):c.836A>T (p.Asp279Val)
|
|
|
NM_025114.4(CEP290):c.837T>C (p.Asp279=)
|
|
|
NM_025114.4(CEP290):c.846A>G (p.Gln282=)
|
|
|
NM_025114.4(CEP290):c.852+10A>C
|
rs1191374264
|
|
NM_025114.4(CEP290):c.852+10A>G
|
rs1191374264
|
|
NM_025114.4(CEP290):c.852+11C>A
|
|
|
NM_025114.4(CEP290):c.852+16A>G
|
rs2138082584
|
|
NM_025114.4(CEP290):c.852+17G>A
|
|
|
NM_025114.4(CEP290):c.852+7A>G
|
|
|
NM_025114.4(CEP290):c.853-10del
|
rs201265955
|
|
NM_025114.4(CEP290):c.853-11T>G
|
|
|
NM_025114.4(CEP290):c.853-11_853-10insC
|
|
|
NM_025114.4(CEP290):c.853-12_853-11insA
|
|
|
NM_025114.4(CEP290):c.853-14del
|
|
|
NM_025114.4(CEP290):c.853-16T>C
|
|
|
NM_025114.4(CEP290):c.853-18A>C
|
rs2138072197
|
|
NM_025114.4(CEP290):c.853-20G>C
|
rs1565913252
|
|
NM_025114.4(CEP290):c.853-7C>A
|
rs2138071676
|
|
NM_025114.4(CEP290):c.858G>A (p.Gln286=)
|
|
|
NM_025114.4(CEP290):c.864T>A (p.Leu288=)
|
|
|
NM_025114.4(CEP290):c.867A>C (p.Thr289=)
|
rs2138071158
|
|
NM_025114.4(CEP290):c.888T>C (p.Asn296=)
|
|
|
NM_025114.4(CEP290):c.897T>C (p.Asp299=)
|
|
|
NM_025114.4(CEP290):c.918C>T (p.Val306=)
|
rs1592668759
|
|
NM_025114.4(CEP290):c.93C>G (p.Ser31=)
|
rs375955381
|
|
NM_025114.4(CEP290):c.942+13A>G
|
|
|
NM_025114.4(CEP290):c.942+14A>G
|
|
|
NM_025114.4(CEP290):c.943-14G>T
|
|
|
NM_025114.4(CEP290):c.943-16T>C
|
|
|
NM_025114.4(CEP290):c.943-4C>G
|
|
|
NM_025114.4(CEP290):c.948T>C (p.Ile316=)
|
rs767967987
|
|
NM_025114.4(CEP290):c.966T>C (p.Asp322=)
|
rs762450740
|
|
NM_025114.4(CEP290):c.993A>G (p.Leu331=)
|
|
|
NM_025114.4(CEP290):c.99C>T (p.Ser33=)
|
rs866917306
|
|
NM_030578.4(B9D2):c.132G>A (p.Thr44=)
|
|
|
NM_030578.4(B9D2):c.186C>T (p.Asp62=)
|
|
|
NM_030578.4(B9D2):c.346C>T (p.Leu116=)
|
rs1555755825
|
|
NM_030578.4(B9D2):c.432C>T (p.Ala144=)
|
|
|
NM_030578.4(B9D2):c.516C>T (p.Gly172=)
|
|
|
NM_030578.4(B9D2):c.88+17G>C
|
|
|
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=)
|
|
|
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=)
|
|
|
NM_153704.6(TMEM67):c.1065+12T>A
|
|
|
NM_153704.6(TMEM67):c.1065+12T>G
|
|
|
NM_153704.6(TMEM67):c.1065+17T>G
|
rs2130669162
|
|
NM_153704.6(TMEM67):c.1065+7A>G
|
|
|
NM_153704.6(TMEM67):c.1065+9G>A
|
|
|
NM_153704.6(TMEM67):c.1066-16T>C
|
|
|
NM_153704.6(TMEM67):c.1066-4G>A
|
|
|
NM_153704.6(TMEM67):c.1066-7G>A
|
rs978443277
|
|
NM_153704.6(TMEM67):c.1066-7G>T
|
|
|
NM_153704.6(TMEM67):c.108C>G (p.Ala36=)
|
rs2130522054
|
|
NM_153704.6(TMEM67):c.1101T>C (p.Ala367=)
|
|
|
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=)
|
|
|
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=)
|
|
|
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=)
|
|
|
NM_153704.6(TMEM67):c.1131+12C>T
|
|
|
NM_153704.6(TMEM67):c.1131+13G>A
|
|
|
NM_153704.6(TMEM67):c.1131+16A>G
|
|
|
NM_153704.6(TMEM67):c.1131+9G>A
|
rs1813883065
|
|
NM_153704.6(TMEM67):c.1132-14_1132-9del
|
rs2130685786
|
|
NM_153704.6(TMEM67):c.1132-16T>C
|
|
|
NM_153704.6(TMEM67):c.1132-19T>G
|
|
|
NM_153704.6(TMEM67):c.1143T>C (p.Pro381=)
|
|
|
NM_153704.6(TMEM67):c.114C>T (p.Thr38=)
|
|
|
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=)
|
rs1814042818
|
|
NM_153704.6(TMEM67):c.1230T>A (p.Ile410=)
|
|
|
NM_153704.6(TMEM67):c.1239G>C (p.Val413=)
|
|
|
NM_153704.6(TMEM67):c.1239G>T (p.Val413=)
|
|
|
NM_153704.6(TMEM67):c.1263A>G (p.Gln421=)
|
|
|
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=)
|
|
|
NM_153704.6(TMEM67):c.1288+10C>G
|
|
|
NM_153704.6(TMEM67):c.1288+14A>G
|
rs1458179636
|
|
NM_153704.6(TMEM67):c.1288+15C>T
|
rs1057523004
|
|
NM_153704.6(TMEM67):c.1288+15del
|
|
|
NM_153704.6(TMEM67):c.1288+9T>A
|
|
|
NM_153704.6(TMEM67):c.1288+9T>C
|
|
|
NM_153704.6(TMEM67):c.1289-19T>C
|
|
|
NM_153704.6(TMEM67):c.1289-20T>C
|
|
|
NM_153704.6(TMEM67):c.1289-6T>C
|
rs746707583
|
|
NM_153704.6(TMEM67):c.1289-8A>G
|
|
|
NM_153704.6(TMEM67):c.1289-8A>T
|
|
|
NM_153704.6(TMEM67):c.1299T>G (p.Ser433=)
|
|
|
NM_153704.6(TMEM67):c.1312C>T (p.Leu438=)
|
|
|
NM_153704.6(TMEM67):c.1317T>A (p.Thr439=)
|
rs1814090920
|
|
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=)
|
|
|
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=)
|
|
|
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=)
|
|
|
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=)
|
|
|
NM_153704.6(TMEM67):c.1412+10T>C
|
|
|
NM_153704.6(TMEM67):c.1412+12T>C
|
|
|
NM_153704.6(TMEM67):c.1412+13C>T
|
|
|
NM_153704.6(TMEM67):c.1412+16A>G
|
|
|
NM_153704.6(TMEM67):c.1413-6A>G
|
|
|
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=)
|
|
|
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=)
|
|
|
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=)
|
|
|
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=)
|
|
|
NM_153704.6(TMEM67):c.1518+15del
|
|
|
NM_153704.6(TMEM67):c.1518+20G>T
|
|
|
NM_153704.6(TMEM67):c.1519-14G>C
|
|
|
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=)
|
|
|
NM_153704.6(TMEM67):c.1575+15A>G
|
|
|
NM_153704.6(TMEM67):c.1575+16C>T
|
rs2130711471
|
|
NM_153704.6(TMEM67):c.1575+9A>G
|
|
|
NM_153704.6(TMEM67):c.1576-10T>C
|
|
|
NM_153704.6(TMEM67):c.1576-19T>C
|
|
|
NM_153704.6(TMEM67):c.1576-20A>G
|
rs1397119713
|
|
NM_153704.6(TMEM67):c.1576-7T>C
|
rs767939125
|
|
NM_153704.6(TMEM67):c.1576-7T>G
|
|
|
NM_153704.6(TMEM67):c.1576-9G>C
|
|
|
NM_153704.6(TMEM67):c.1599G>A (p.Gly533=)
|
|
|
NM_153704.6(TMEM67):c.159G>A (p.Gln53=)
|
|
|
NM_153704.6(TMEM67):c.15T>G (p.Gly5=)
|
|
|
NM_153704.6(TMEM67):c.1600C>T (p.Leu534=)
|
|
|
NM_153704.6(TMEM67):c.1605T>C (p.Ala535=)
|
|
|
NM_153704.6(TMEM67):c.1620T>G (p.Leu540=)
|
|
|
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=)
|
|
|
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=)
|
|
|
NM_153704.6(TMEM67):c.1669T>C (p.Leu557=)
|
|
|
NM_153704.6(TMEM67):c.1671A>G (p.Leu557=)
|
|
|
NM_153704.6(TMEM67):c.1674+12G>A
|
|
|
NM_153704.6(TMEM67):c.1674+17T>G
|
|
|
NM_153704.6(TMEM67):c.1675-10dup
|
rs752404927
|
|
NM_153704.6(TMEM67):c.1675-18C>T
|
|
|
NM_153704.6(TMEM67):c.1675-8A>T
|
|
|
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=)
|
rs950429653
|
|
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=)
|
|
|
NM_153704.6(TMEM67):c.1740G>A (p.Val580=)
|
|
|
NM_153704.6(TMEM67):c.1749T>C (p.Gly583=)
|
|
|
NM_153704.6(TMEM67):c.174C>T (p.Ser58=)
|
|
|
NM_153704.6(TMEM67):c.1773+13C>T
|
|
|
NM_153704.6(TMEM67):c.1773+17A>G
|
|
|
NM_153704.6(TMEM67):c.1774-19C>G
|
|
|
NM_153704.6(TMEM67):c.1774-4A>G
|
|
|
NM_153704.6(TMEM67):c.1774-7A>T
|
|
|
NM_153704.6(TMEM67):c.177C>A (p.Ala59=)
|
|
|
NM_153704.6(TMEM67):c.177C>T (p.Ala59=)
|
|
|
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=)
|
|
|
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=)
|
|
|
NM_153704.6(TMEM67):c.180C>T (p.Leu60=)
|
|
|
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly)
|
rs142283122
|
|
NM_153704.6(TMEM67):c.1830C>G (p.Val610=)
|
|
|
NM_153704.6(TMEM67):c.1830C>T (p.Val610=)
|
|
|
NM_153704.6(TMEM67):c.1842A>G (p.Gly614=)
|
|
|
NM_153704.6(TMEM67):c.1860+10A>G
|
|
|
NM_153704.6(TMEM67):c.1860+14G>A
|
|
|
NM_153704.6(TMEM67):c.1860+16C>G
|
|
|
NM_153704.6(TMEM67):c.1860+17A>G
|
|
|
NM_153704.6(TMEM67):c.1860+19G>T
|
rs373634556
|
|
NM_153704.6(TMEM67):c.1860+8T>C
|
|
|
NM_153704.6(TMEM67):c.1861-13A>G
|
|
|
NM_153704.6(TMEM67):c.1861-16T>C
|
|
|
NM_153704.6(TMEM67):c.1861-18A>G
|
|
|
NM_153704.6(TMEM67):c.18G>C (p.Gly6=)
|
rs1812494244
|
|
NM_153704.6(TMEM67):c.1911C>T (p.Phe637=)
|
rs863225225
|
|
NM_153704.6(TMEM67):c.1926G>A (p.Glu642=)
|
|
|
NM_153704.6(TMEM67):c.1956T>G (p.Val652=)
|
rs2130734693
|
|
NM_153704.6(TMEM67):c.1960+9A>T
|
|
|
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=)
|
|
|
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=)
|
rs137989705
|
|
NM_153704.6(TMEM67):c.2100+11_2100+14del
|
|
|
NM_153704.6(TMEM67):c.2100+13T>C
|
|
|
NM_153704.6(TMEM67):c.2101-10T>G
|
|
|
NM_153704.6(TMEM67):c.2101-13C>A
|
|
|
NM_153704.6(TMEM67):c.2101-13C>G
|
|
|
NM_153704.6(TMEM67):c.2101-14C>T
|
|
|
NM_153704.6(TMEM67):c.2101-20A>C
|
rs369488441
|
|
NM_153704.6(TMEM67):c.2101-20A>G
|
|
|
NM_153704.6(TMEM67):c.2101-5T>C
|
|
|
NM_153704.6(TMEM67):c.2101-8T>C
|
|
|
NM_153704.6(TMEM67):c.2103T>G (p.Val701=)
|
|
|
NM_153704.6(TMEM67):c.2115G>A (p.Lys705=)
|
|
|
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=)
|
|
|
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)
|
|
|
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)
|
|
|
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=)
|
|
|
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=)
|
|
|
NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=)
|
|
|
NM_153704.6(TMEM67):c.2184C>T (p.Ser728=)
|
|
|
NM_153704.6(TMEM67):c.2202A>G (p.Ala734=)
|
|
|
NM_153704.6(TMEM67):c.2214T>A (p.Ala738=)
|
|
|
NM_153704.6(TMEM67):c.2223A>G (p.Leu741=)
|
|
|
NM_153704.6(TMEM67):c.2226C>A (p.Ala742=)
|
|
|
NM_153704.6(TMEM67):c.223+10T>G
|
|
|
NM_153704.6(TMEM67):c.223+13G>C
|
|
|
NM_153704.6(TMEM67):c.223+15G>A
|
|
|
NM_153704.6(TMEM67):c.223+16G>C
|
|
|
NM_153704.6(TMEM67):c.223+7C>T
|
|
|
NM_153704.6(TMEM67):c.224-11T>A
|
|
|
NM_153704.6(TMEM67):c.224-13_224-3del
|
|
|
NM_153704.6(TMEM67):c.224-17T>C
|
|
|
NM_153704.6(TMEM67):c.224-20T>C
|
|
|
NM_153704.6(TMEM67):c.224-4_224-3insA
|
|
|
NM_153704.6(TMEM67):c.224-7T>C
|
|
|
NM_153704.6(TMEM67):c.224-9T>G
|
|
|
NM_153704.6(TMEM67):c.2241+12T>C
|
|
|
NM_153704.6(TMEM67):c.2241+19A>G
|
|
|
NM_153704.6(TMEM67):c.2242-14A>G
|
|
|
NM_153704.6(TMEM67):c.2242-8T>C
|
|
|
NM_153704.6(TMEM67):c.2242-9A>T
|
|
|
NM_153704.6(TMEM67):c.2244C>T (p.Val748=)
|
|
|
NM_153704.6(TMEM67):c.2247G>C (p.Val749=)
|
|
|
NM_153704.6(TMEM67):c.2268G>A (p.Glu756=)
|
|
|
NM_153704.6(TMEM67):c.2269A>C (p.Arg757=)
|
|
|
NM_153704.6(TMEM67):c.2283T>C (p.Asp761=)
|
|
|
NM_153704.6(TMEM67):c.2295G>A (p.Gln765=)
|
|
|
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=)
|
rs372104198
|
|
NM_153704.6(TMEM67):c.2301T>G (p.Val767=)
|
|
|
NM_153704.6(TMEM67):c.231A>T (p.Ser77=)
|
|
|
NM_153704.6(TMEM67):c.2322+11T>C
|
|
|
NM_153704.6(TMEM67):c.2322+11dup
|
rs761531825
|
|
NM_153704.6(TMEM67):c.2322+17T>C
|
|
|
NM_153704.6(TMEM67):c.2322+18T>G
|
|
|
NM_153704.6(TMEM67):c.2322+20A>G
|
|
|
NM_153704.6(TMEM67):c.2322+7A>G
|
|
|
NM_153704.6(TMEM67):c.2323-10C>G
|
|
|
NM_153704.6(TMEM67):c.2323-10C>T
|
|
|
NM_153704.6(TMEM67):c.2323-4A>G
|
|
|
NM_153704.6(TMEM67):c.2343C>G (p.Ser781=)
|
|
|
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=)
|
|
|
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=)
|
rs2130763777
|
|
NM_153704.6(TMEM67):c.237A>T (p.Val79=)
|
|
|
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=)
|
rs1586083001
|
|
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=)
|
|
|
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=)
|
|
|
NM_153704.6(TMEM67):c.2439+19del
|
|
|
NM_153704.6(TMEM67):c.2439+8A>C
|
|
|
NM_153704.6(TMEM67):c.2439+9A>G
|
rs2130764128
|
|
NM_153704.6(TMEM67):c.243A>C (p.Leu81=)
|
|
|
NM_153704.6(TMEM67):c.2440-13T>C
|
|
|
NM_153704.6(TMEM67):c.2440-7T>C
|
|
|
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)
|
|
|
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=)
|
|
|
NM_153704.6(TMEM67):c.246A>G (p.Pro82=)
|
|
|
NM_153704.6(TMEM67):c.2475C>T (p.Asn825=)
|
|
|
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)
|
|
|
NM_153704.6(TMEM67):c.2505T>A (p.Ile835=)
|
|
|
NM_153704.6(TMEM67):c.2508T>A (p.Ser836=)
|
|
|
NM_153704.6(TMEM67):c.2532C>T (p.Asp844=)
|
|
|
NM_153704.6(TMEM67):c.2538T>C (p.Ile846=)
|
|
|
NM_153704.6(TMEM67):c.2544G>A (p.Glu848=)
|
|
|
NM_153704.6(TMEM67):c.2557-16C>G
|
rs2130781103
|
|
NM_153704.6(TMEM67):c.2557-20A>G
|
|
|
NM_153704.6(TMEM67):c.2557-5A>G
|
|
|
NM_153704.6(TMEM67):c.2565T>C (p.Gly855=)
|
|
|
NM_153704.6(TMEM67):c.2577A>G (p.Leu859=)
|
|
|
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=)
|
|
|
NM_153704.6(TMEM67):c.2604G>A (p.Glu868=)
|
|
|
NM_153704.6(TMEM67):c.2619A>G (p.Ala873=)
|
|
|
NM_153704.6(TMEM67):c.2619A>T (p.Ala873=)
|
|
|
NM_153704.6(TMEM67):c.2625T>C (p.His875=)
|
|
|
NM_153704.6(TMEM67):c.2661+14del
|
|
|
NM_153704.6(TMEM67):c.2661+17T>A
|
rs2130781754
|
|
NM_153704.6(TMEM67):c.2661+18T>G
|
|
|
NM_153704.6(TMEM67):c.2662-16T>C
|
|
|
NM_153704.6(TMEM67):c.2662-6T>A
|
|
|
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=)
|
|
|
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=)
|
|
|
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=)
|
|
|
NM_153704.6(TMEM67):c.270T>C (p.Asn90=)
|
|
|
NM_153704.6(TMEM67):c.273A>C (p.Gly91=)
|
|
|
NM_153704.6(TMEM67):c.2764+10A>T
|
rs900677485
|
|
NM_153704.6(TMEM67):c.2764+19T>C
|
|
|
NM_153704.6(TMEM67):c.2765-5A>G
|
rs1808862357
|
|
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=)
|
|
|
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=)
|
|
|
NM_153704.6(TMEM67):c.2790C>T (p.Val930=)
|
rs767620101
|
|
NM_153704.6(TMEM67):c.2793G>A (p.Leu931=)
|
|
|
NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=)
|
|
|
NM_153704.6(TMEM67):c.2829T>C (p.Asp943=)
|
|
|
NM_153704.6(TMEM67):c.2835G>A (p.Leu945=)
|
rs745807071
|
|
NM_153704.6(TMEM67):c.2835G>C (p.Leu945=)
|
|
|
NM_153704.6(TMEM67):c.2856G>A (p.Leu952=)
|
|
|
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=)
|
|
|
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=)
|
|
|
NM_153704.6(TMEM67):c.2898A>G (p.Leu966=)
|
|
|
NM_153704.6(TMEM67):c.2907+14A>T
|
|
|
NM_153704.6(TMEM67):c.2908-10A>C
|
|
|
NM_153704.6(TMEM67):c.2908-12T>C
|
|
|
NM_153704.6(TMEM67):c.2908-15G>T
|
|
|
NM_153704.6(TMEM67):c.2908-20G>T
|
rs2130802403
|
|
NM_153704.6(TMEM67):c.2934A>G (p.Val978=)
|
|
|
NM_153704.6(TMEM67):c.2947T>C (p.Leu983=)
|
|
|
NM_153704.6(TMEM67):c.2961A>G (p.Thr987=)
|
|
|
NM_153704.6(TMEM67):c.2962T>C (p.Leu988=)
|
|
|
NM_153704.6(TMEM67):c.2988A>G (p.Ter996=)
|
|
|
NM_153704.6(TMEM67):c.312+15T>G
|
|
|
NM_153704.6(TMEM67):c.313-12C>G
|
|
|
NM_153704.6(TMEM67):c.313-12C>T
|
|
|
NM_153704.6(TMEM67):c.318T>C (p.Gly106=)
|
rs1812680947
|
|
NM_153704.6(TMEM67):c.330T>C (p.Asp110=)
|
|
|
NM_153704.6(TMEM67):c.333C>G (p.Gly111=)
|
|
|
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
|
|
|
NM_153704.6(TMEM67):c.360C>T (p.Asp120=)
|
|
|
NM_153704.6(TMEM67):c.36G>A (p.Ala12=)
|
rs766615868
|
|
NM_153704.6(TMEM67):c.36G>C (p.Ala12=)
|
|
|
NM_153704.6(TMEM67):c.390C>T (p.Pro130=)
|
|
|
NM_153704.6(TMEM67):c.39T>G (p.Val13=)
|
|
|
NM_153704.6(TMEM67):c.406+11G>T
|
|
|
NM_153704.6(TMEM67):c.406+12A>T
|
rs575499078
|
|
NM_153704.6(TMEM67):c.406+17T>A
|
|
|
NM_153704.6(TMEM67):c.406+18T>C
|
|
|
NM_153704.6(TMEM67):c.406+7A>C
|
|
|
NM_153704.6(TMEM67):c.407-19T>C
|
|
|
NM_153704.6(TMEM67):c.407-6G>C
|
rs1271174081
|
|
NM_153704.6(TMEM67):c.408G>T (p.Val136=)
|
|
|
NM_153704.6(TMEM67):c.423T>C (p.Asn141=)
|
|
|
NM_153704.6(TMEM67):c.429A>T (p.Thr143=)
|
|
|
NM_153704.6(TMEM67):c.45C>T (p.Ser15=)
|
|
|
NM_153704.6(TMEM67):c.471A>G (p.Glu157=)
|
rs1812962110
|
|
NM_153704.6(TMEM67):c.48C>T (p.Leu16=)
|
|
|
NM_153704.6(TMEM67):c.506+10G>A
|
|
|
NM_153704.6(TMEM67):c.506+13A>T
|
rs2130577066
|
|
NM_153704.6(TMEM67):c.506+17G>C
|
|
|
NM_153704.6(TMEM67):c.506+9T>G
|
|
|
NM_153704.6(TMEM67):c.507-10T>C
|
|
|
NM_153704.6(TMEM67):c.507-11A>G
|
|
|
NM_153704.6(TMEM67):c.507-14G>T
|
|
|
NM_153704.6(TMEM67):c.507-16T>G
|
|
|
NM_153704.6(TMEM67):c.507-9A>G
|
|
|
NM_153704.6(TMEM67):c.522G>A (p.Glu174=)
|
|
|
NM_153704.6(TMEM67):c.546G>A (p.Arg182=)
|
rs2130585586
|
|
NM_153704.6(TMEM67):c.576+11C>A
|
|
|
NM_153704.6(TMEM67):c.576+16T>C
|
|
|
NM_153704.6(TMEM67):c.576+17T>C
|
|
|
NM_153704.6(TMEM67):c.576+9A>G
|
rs2130585836
|
|
NM_153704.6(TMEM67):c.577-11T>C
|
|
|
NM_153704.6(TMEM67):c.577-20T>C
|
|
|
NM_153704.6(TMEM67):c.577-4del
|
|
|
NM_153704.6(TMEM67):c.577-8T>C
|
|
|
NM_153704.6(TMEM67):c.57C>A (p.Ala19=)
|
rs749429162
|
|
NM_153704.6(TMEM67):c.594C>T (p.Phe198=)
|
rs149290663
|
|
NM_153704.6(TMEM67):c.651+12T>G
|
|
|
NM_153704.6(TMEM67):c.651+15A>G
|
|
|
NM_153704.6(TMEM67):c.651+17T>C
|
rs926157464
|
|
NM_153704.6(TMEM67):c.651+17T>G
|
rs926157464
|
|
NM_153704.6(TMEM67):c.651+18T>C
|
|
|
NM_153704.6(TMEM67):c.651+19T>C
|
|
|
NM_153704.6(TMEM67):c.652-18G>A
|
rs1198930533
|
|
NM_153704.6(TMEM67):c.652-8G>T
|
|
|
NM_153704.6(TMEM67):c.654C>G (p.Gly218=)
|
|
|
NM_153704.6(TMEM67):c.654C>T (p.Gly218=)
|
|
|
NM_153704.6(TMEM67):c.666T>A (p.Thr222=)
|
|
|
NM_153704.6(TMEM67):c.66G>A (p.Val22=)
|
|
|
NM_153704.6(TMEM67):c.687T>C (p.Tyr229=)
|
|
|
NM_153704.6(TMEM67):c.69C>G (p.Thr23=)
|
|
|
NM_153704.6(TMEM67):c.708A>G (p.Ala236=)
|
|
|
NM_153704.6(TMEM67):c.714+11A>G
|
|
|
NM_153704.6(TMEM67):c.714+14T>C
|
|
|
NM_153704.6(TMEM67):c.714+7T>C
|
rs2130622573
|
|
NM_153704.6(TMEM67):c.715-12G>A
|
|
|
NM_153704.6(TMEM67):c.715-12G>T
|
|
|
NM_153704.6(TMEM67):c.715-13T>C
|
|
|
NM_153704.6(TMEM67):c.715-4G>C
|
rs560467218
|
|
NM_153704.6(TMEM67):c.715-8T>C
|
|
|
NM_153704.6(TMEM67):c.720T>C (p.Tyr240=)
|
|
|
NM_153704.6(TMEM67):c.741A>G (p.Gln247=)
|
|
|
NM_153704.6(TMEM67):c.744T>C (p.Ala248=)
|
|
|
NM_153704.6(TMEM67):c.786T>C (p.Phe262=)
|
rs1222482768
|
|
NM_153704.6(TMEM67):c.789C>T (p.Ala263=)
|
|
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NM_153704.6(TMEM67):c.801A>G (p.Ala267=)
|
|
|
NM_153704.6(TMEM67):c.810A>G (p.Leu270=)
|
|
|
NM_153704.6(TMEM67):c.840A>C (p.Gly280=)
|
|
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NM_153704.6(TMEM67):c.840A>G (p.Gly280=)
|
|
|
NM_153704.6(TMEM67):c.846C>T (p.Ser282=)
|
rs1813782763
|
|
NM_153704.6(TMEM67):c.849T>G (p.Thr283=)
|
|
|
NM_153704.6(TMEM67):c.869+17T>C
|
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NM_153704.6(TMEM67):c.869+17T>G
|
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NM_153704.6(TMEM67):c.869+18G>C
|
|
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NM_153704.6(TMEM67):c.870-16T>C
|
|
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NM_153704.6(TMEM67):c.870-8G>A
|
|
|
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)
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NM_153704.6(TMEM67):c.939C>T (p.Thr313=)
|
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|
NM_153704.6(TMEM67):c.972A>G (p.Glu324=)
|
rs2130664789
|
|
NM_153704.6(TMEM67):c.978+12T>C
|
rs2130664875
|
|
NM_153704.6(TMEM67):c.978+14A>G
|
|
|
NM_153704.6(TMEM67):c.978+17T>C
|
|
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NM_153704.6(TMEM67):c.979-15G>A
|
|
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NM_153704.6(TMEM67):c.979-18C>T
|
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NM_153704.6(TMEM67):c.990G>A (p.Leu330=)
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|
NM_153704.6(TMEM67):c.99C>T (p.Phe33=)
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|
|
NM_153704.6(TMEM67):c.9G>A (p.Thr3=)
|
rs774376361
|
|