NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_153240.5(NPHP3):c.1887+6G>A
|
rs79113972
|
0.00654
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_001378615.1(CC2D2A):c.-18-2673G>A
|
rs183968785
|
0.00636
|
NM_153240.5(NPHP3):c.*759G>A
|
rs116338839
|
0.00632
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
NM_153240.5(NPHP3):c.*815G>A
|
rs141464909
|
0.00625
|
NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
NM_001044385.3(TMEM237):c.*962A>C
|
rs142403941
|
0.00484
|
NM_001044385.3(TMEM237):c.*969A>G
|
rs137925244
|
0.00484
|
NM_138959.3(VANGL1):c.*5267G>A
|
rs75064936
|
0.00465
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_153240.5(NPHP3):c.2089-9C>T
|
rs141397228
|
0.00404
|
NM_138959.3(VANGL1):c.*3608C>T
|
rs555833838
|
0.00381
|
NM_138959.3(VANGL1):c.*2336A>G
|
rs148944333
|
0.00362
|
NM_153240.5(NPHP3):c.520-10C>G
|
rs200144727
|
0.00362
|
NM_138959.3(VANGL1):c.*3742A>T
|
rs115376031
|
0.00360
|
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys)
|
rs141477666
|
0.00334
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_018718.3(CEP41):c.*2116T>C
|
rs190709953
|
0.00306
|
NM_018718.3(CEP41):c.*593G>A
|
rs186685101
|
0.00290
|
NM_018718.3(CEP41):c.*4322G>A
|
rs538898722
|
0.00283
|
NM_153240.5(NPHP3):c.*1188A>G
|
rs7632096
|
0.00282
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_018082.6(POLR3B):c.*492A>T
|
rs780838654
|
0.00223
|
NM_018718.3(CEP41):c.*1974A>G
|
rs185337247
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_018082.6(POLR3B):c.*238T>C
|
rs149535796
|
0.00214
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_138959.3(VANGL1):c.*1043A>G
|
rs150705915
|
0.00210
|
NM_001173990.3(TMEM216):c.*107G>T
|
rs535550368
|
0.00203
|
NM_015272.5(RPGRIP1L):c.*1385A>G
|
rs150194508
|
0.00201
|
NM_018718.3(CEP41):c.*3274G>A
|
rs112007936
|
0.00199
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_015272.5(RPGRIP1L):c.*1461A>T
|
rs184079732
|
0.00195
|
NM_138959.3(VANGL1):c.*2695C>A
|
rs540290490
|
0.00195
|
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)
|
rs143947747
|
0.00194
|
NM_001077446.4(TSEN34):c.*993C>T
|
rs535031564
|
0.00192
|
NM_021926.4(ALX4):c.*2991G>A
|
rs556132435
|
0.00186
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_025265.4(TSEN2):c.*419A>G
|
rs139545175
|
0.00176
|
NM_016955.4(SEPSECS):c.*3870A>T
|
rs187861688
|
0.00175
|
NM_018718.3(CEP41):c.*1056A>C
|
rs574982700
|
0.00170
|
NM_138959.3(VANGL1):c.*922C>T
|
rs142123586
|
0.00170
|
NM_000368.5(TSC1):c.*2904G>T
|
rs559978998
|
0.00163
|
NM_001044385.3(TMEM237):c.*308T>G
|
rs185380807
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_018718.3(CEP41):c.*5068G>A
|
rs148856430
|
0.00163
|
NM_018718.3(CEP41):c.*740C>T
|
rs553917711
|
0.00161
|
NM_207346.3(TSEN54):c.*282T>A
|
rs191410134
|
0.00158
|
NM_001044385.3(TMEM237):c.*3855A>G
|
rs187328136
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_001134831.2(AHI1):c.*1404A>G
|
rs149288894
|
0.00148
|
NM_002449.5(MSX2):c.*366T>G
|
rs193163747
|
0.00146
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_015272.5(RPGRIP1L):c.-9C>T
|
rs779839225
|
0.00143
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_001044385.3(TMEM237):c.*1382C>T
|
rs187040024
|
0.00140
|
NM_001044385.3(TMEM237):c.*3728A>G
|
rs555315551
|
0.00140
|
NM_138959.3(VANGL1):c.*758G>A
|
rs546932643
|
0.00140
|
NM_001128178.3(NPHP1):c.*250C>T
|
rs150558683
|
0.00139
|
NM_018718.3(CEP41):c.*2389G>A
|
rs73152867
|
0.00138
|
NM_002449.5(MSX2):c.*1189G>A
|
rs146501739
|
0.00137
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_138959.3(VANGL1):c.*5466G>A
|
rs192325588
|
0.00135
|
NM_016042.4(EXOSC3):c.*555A>C
|
rs188744146
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_001077446.4(TSEN34):c.*496T>A
|
rs190495812
|
0.00130
|
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)
|
rs142594314
|
0.00128
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_018082.6(POLR3B):c.1873T>C (p.Leu625=)
|
rs139376910
|
0.00122
|
NM_021926.4(ALX4):c.*3033G>A
|
rs886048287
|
0.00121
|
NM_000368.5(TSC1):c.*3830C>T
|
rs544931538
|
0.00120
|
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)
|
rs186264635
|
0.00120
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_021926.4(ALX4):c.*1463C>G
|
rs771684261
|
0.00120
|
NM_153240.5(NPHP3):c.*1020T>C
|
rs186828918
|
0.00120
|
NM_018718.3(CEP41):c.*4216C>T
|
rs187549864
|
0.00117
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_001134831.2(AHI1):c.*1288T>C
|
rs886061103
|
0.00111
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_015272.5(RPGRIP1L):c.*1482G>A
|
rs192765976
|
0.00108
|
NM_018082.6(POLR3B):c.*372A>G
|
rs557970332
|
0.00106
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_153240.5(NPHP3):c.*852C>A
|
rs192360684
|
0.00104
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_018718.3(CEP41):c.*1579T>C
|
rs554826749
|
0.00101
|
NM_001378615.1(CC2D2A):c.-47G>A
|
rs778112215
|
0.00100
|
NM_018082.6(POLR3B):c.-37G>T
|
rs373418815
|
0.00099
|
NM_018718.3(CEP41):c.*4244C>G
|
rs544508687
|
0.00096
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_018718.3(CEP41):c.*3541G>A
|
rs376434190
|
0.00088
|
NM_025265.4(TSEN2):c.-353G>T
|
rs1023680154
|
0.00086
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
NM_138959.3(VANGL1):c.*2708G>A
|
rs565246095
|
0.00084
|
NM_018718.3(CEP41):c.*680G>A
|
rs146622910
|
0.00083
|
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val)
|
rs143196463
|
0.00083
|
NM_138959.3(VANGL1):c.*5808C>T
|
rs184708484
|
0.00082
|
NM_018718.3(CEP41):c.*4908G>A
|
rs552988501
|
0.00080
|
NM_207346.3(TSEN54):c.285+12G>A
|
rs373044979
|
0.00080
|
NM_015272.5(RPGRIP1L):c.*1510G>A
|
rs140374059
|
0.00079
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_001134831.2(AHI1):c.*1146T>A
|
rs557989991
|
0.00076
|
NM_138959.3(VANGL1):c.*3671T>C
|
rs757056873
|
0.00075
|
NM_016955.4(SEPSECS):c.*610G>A
|
rs570766273
|
0.00073
|
NM_018082.6(POLR3B):c.*442G>A
|
rs574873455
|
0.00073
|
NM_025265.4(TSEN2):c.1248+15G>C
|
rs200663602
|
0.00073
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_000368.5(TSC1):c.*677G>C
|
rs189890583
|
0.00069
|
NM_015272.5(RPGRIP1L):c.*1309C>A
|
rs145688896
|
0.00068
|
NM_138959.3(VANGL1):c.*6794C>A
|
rs562835629
|
0.00068
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)
|
rs113981920
|
0.00066
|
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)
|
rs116174472
|
0.00066
|
NM_138959.3(VANGL1):c.1050T>C (p.His350=)
|
rs147220426
|
0.00065
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_016464.5(TMEM138):c.*228C>G
|
rs536120944
|
0.00063
|
NM_016955.4(SEPSECS):c.*2990G>C
|
rs555513125
|
0.00063
|
NM_021926.4(ALX4):c.*3241C>G
|
rs550434819
|
0.00063
|
NM_025265.4(TSEN2):c.990A>G (p.Lys330=)
|
rs113260160
|
0.00063
|
NM_153240.5(NPHP3):c.*1176G>A
|
rs183658380
|
0.00063
|
NM_153240.5(NPHP3):c.*926C>T
|
rs570076170
|
0.00063
|
NM_001077446.4(TSEN34):c.*1046T>C
|
rs553497009
|
0.00062
|
NM_000368.5(TSC1):c.*279T>G
|
rs554637460
|
0.00061
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_153240.5(NPHP3):c.*141T>C
|
rs538987591
|
0.00061
|
NM_000368.5(TSC1):c.*1861G>A
|
rs561511694
|
0.00060
|
NM_000368.5(TSC1):c.*3997G>A
|
rs148982924
|
0.00060
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_153240.5(NPHP3):c.*519C>T
|
rs3891704
|
0.00060
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_018718.3(CEP41):c.*1646G>A
|
rs187513408
|
0.00059
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
NM_025265.4(TSEN2):c.522C>T (p.Asn174=)
|
rs141580750
|
0.00059
|
NM_001378615.1(CC2D2A):c.*45G>C
|
rs372449768
|
0.00057
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
NM_178161.3(PTF1A):c.*117A>G
|
rs886046911
|
0.00057
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_138959.3(VANGL1):c.*3407dup
|
rs752251154
|
0.00056
|
NM_138959.3(VANGL1):c.*3409T>C
|
rs140931431
|
0.00056
|
NM_000368.5(TSC1):c.*4680G>T
|
rs747969932
|
0.00055
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_021926.4(ALX4):c.*867C>T
|
rs746147000
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_138959.3(VANGL1):c.*2099G>T
|
rs886045129
|
0.00054
|
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)
|
rs146890274
|
0.00054
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
NM_138959.3(VANGL1):c.-145G>T
|
rs559438343
|
0.00052
|
NM_001044385.3(TMEM237):c.*1655G>A
|
rs1020619947
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)
|
rs202245444
|
0.00050
|
NM_153240.5(NPHP3):c.*437C>T
|
rs539230132
|
0.00050
|
NM_002449.5(MSX2):c.*363A>G
|
rs376258231
|
0.00049
|
NM_000368.5(TSC1):c.*3565C>T
|
rs771494783
|
0.00048
|
NM_015272.5(RPGRIP1L):c.-62C>T
|
rs562413151
|
0.00048
|
NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys)
|
rs61734296
|
0.00048
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_018718.3(CEP41):c.*1981G>A
|
rs538682192
|
0.00047
|
NM_021926.4(ALX4):c.*3577C>T
|
rs569151215
|
0.00047
|
NM_138959.3(VANGL1):c.*2460C>T
|
rs886045132
|
0.00047
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala)
|
rs142133435
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_153240.5(NPHP3):c.*1121A>G
|
rs576904017
|
0.00046
|
NM_001044385.3(TMEM237):c.*2960C>A
|
rs188637429
|
0.00045
|
NM_002449.5(MSX2):c.*1064A>G
|
rs189444818
|
0.00045
|
NM_020320.5(RARS2):c.975-14C>T
|
rs199941996
|
0.00045
|
NM_021926.4(ALX4):c.*3381C>T
|
rs531931217
|
0.00045
|
NM_025114.3(CEP290):c.-235T>G
|
rs569632834
|
0.00045
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_001378615.1(CC2D2A):c.*1T>A
|
rs199945435
|
0.00042
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
NM_018718.3(CEP41):c.*3097T>C
|
rs929238589
|
0.00042
|
NM_001044385.3(TMEM237):c.*2141C>T
|
rs147652455
|
0.00041
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_018718.3(CEP41):c.*1385T>G
|
rs781845516
|
0.00040
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
NM_001044385.3(TMEM237):c.*3517A>G
|
rs563749617
|
0.00039
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_015272.5(RPGRIP1L):c.*270G>A
|
rs549065732
|
0.00039
|
NM_016042.4(EXOSC3):c.*954G>A
|
rs530895640
|
0.00039
|
NM_000368.5(TSC1):c.*116A>G
|
rs181486656
|
0.00038
|
NM_016042.4(EXOSC3):c.*795A>G
|
rs558579097
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg)
|
rs145142315
|
0.00038
|
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)
|
rs188583221
|
0.00037
|
NM_015272.5(RPGRIP1L):c.*532T>C
|
rs184520009
|
0.00037
|
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)
|
rs202097247
|
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_018082.6(POLR3B):c.1702A>G (p.Ile568Val)
|
rs35983209
|
0.00036
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_138959.3(VANGL1):c.*3598A>G
|
rs187286147
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_000368.5(TSC1):c.*3045A>G
|
rs746365344
|
0.00035
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_138959.3(VANGL1):c.*5862G>A
|
rs868196412
|
0.00035
|
NM_000368.5(TSC1):c.*4447C>T
|
rs112968492
|
0.00034
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro)
|
rs200004897
|
0.00034
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
NM_138959.3(VANGL1):c.*801A>C
|
rs768206672
|
0.00034
|
NM_153240.5(NPHP3):c.2884-4C>G
|
rs185913426
|
0.00034
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_001378615.1(CC2D2A):c.3399-15T>C
|
rs181612746
|
0.00033
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_016042.4(EXOSC3):c.-11T>C
|
rs373191549
|
0.00033
|
NM_018718.3(CEP41):c.*4599A>G
|
rs753024852
|
0.00033
|
NM_001044385.3(TMEM237):c.*1008A>G
|
rs777244164
|
0.00032
|
NM_002449.5(MSX2):c.*1096A>G
|
rs530984915
|
0.00032
|
NM_016464.5(TMEM138):c.-157C>G
|
rs779029696
|
0.00032
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_178161.3(PTF1A):c.462G>T (p.Arg154=)
|
rs1056021170
|
0.00032
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp)
|
rs569569636
|
0.00031
|
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)
|
rs191682790
|
0.00030
|
NM_002449.5(MSX2):c.*183G>T
|
rs771167296
|
0.00030
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_018718.3(CEP41):c.*805A>G
|
rs145808545
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_000368.5(TSC1):c.*2854T>C
|
rs899761882
|
0.00029
|
NM_001134831.2(AHI1):c.*793A>G
|
rs191324834
|
0.00029
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_178161.3(PTF1A):c.*306C>G
|
rs769212869
|
0.00029
|
NM_178161.3(PTF1A):c.446C>T (p.Ala149Val)
|
rs902236805
|
0.00029
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_016955.4(SEPSECS):c.*1591G>A
|
rs751678209
|
0.00028
|
NM_207346.3(TSEN54):c.984T>C (p.Ala328=)
|
rs776960594
|
0.00028
|
NM_001044385.3(TMEM237):c.*987C>T
|
rs568084746
|
0.00027
|
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)
|
rs369476930
|
0.00027
|
NM_025265.4(TSEN2):c.*475C>T
|
rs145812749
|
0.00027
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_002449.5(MSX2):c.*601C>T
|
rs886060430
|
0.00026
|
NM_015272.5(RPGRIP1L):c.*851C>A
|
rs138437010
|
0.00026
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
NM_018082.6(POLR3B):c.*584A>G
|
rs886048903
|
0.00026
|
NM_018082.6(POLR3B):c.2334G>A (p.Thr778=)
|
rs150800622
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
NM_025265.4(TSEN2):c.309G>A (p.Arg103=)
|
rs148549222
|
0.00026
|
NM_138959.3(VANGL1):c.-115G>C
|
rs181583261
|
0.00026
|
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg)
|
rs138982161
|
0.00026
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
NM_015272.5(RPGRIP1L):c.*698T>C
|
rs545786772
|
0.00025
|
NM_018718.3(CEP41):c.*4973C>T
|
rs760160179
|
0.00025
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
NM_021926.4(ALX4):c.*2071C>T
|
rs886048295
|
0.00025
|
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_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_018718.3(CEP41):c.*2226G>A
|
rs115431091
|
0.00024
|
NM_025265.4(TSEN2):c.-201C>T
|
rs776511215
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_015272.5(RPGRIP1L):c.*506T>G
|
rs778362441
|
0.00022
|
NM_016042.4(EXOSC3):c.*847T>A
|
rs566642894
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_016955.4(SEPSECS):c.*253A>G
|
rs75428345
|
0.00022
|
NM_018718.3(CEP41):c.*1341A>C
|
rs782742227
|
0.00022
|
NM_025114.4(CEP290):c.3574-15T>A
|
rs565414938
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met)
|
rs140485834
|
0.00022
|
NM_001077446.4(TSEN34):c.*692A>G
|
rs886054627
|
0.00021
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
NM_016464.5(TMEM138):c.-169C>T
|
rs553390222
|
0.00021
|
NM_021926.3(ALX4):c.-81C>T
|
rs886048305
|
0.00021
|
NM_021926.4(ALX4):c.*3382G>A
|
rs748214374
|
0.00021
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_025265.4(TSEN2):c.*430G>A
|
rs145164317
|
0.00020
|
NM_178161.3(PTF1A):c.*265A>G
|
rs886046914
|
0.00020
|
NM_000368.5(TSC1):c.*1474G>A
|
rs1013551475
|
0.00019
|
NM_000368.5(TSC1):c.*2094G>A
|
rs534649062
|
0.00019
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_002449.5(MSX2):c.*1233T>C
|
rs989259719
|
0.00019
|
NM_016955.4(SEPSECS):c.*3234T>A
|
rs551637494
|
0.00019
|
NM_018718.3(CEP41):c.*2781A>G
|
rs782043938
|
0.00019
|
NM_018718.3(CEP41):c.*4391G>A
|
rs782450438
|
0.00019
|
NM_025114.4(CEP290):c.-147A>T
|
rs753567406
|
0.00019
|
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val)
|
rs368377822
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
0.00018
|
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn)
|
rs140692271
|
0.00018
|
NM_138959.3(VANGL1):c.*25A>T
|
rs577473121
|
0.00018
|
NM_138959.3(VANGL1):c.*5132G>T
|
rs549041171
|
0.00018
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001077446.4(TSEN34):c.*948C>T
|
rs886054629
|
0.00017
|
NM_002449.5(MSX2):c.*306G>T
|
rs886060428
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_138959.3(VANGL1):c.765C>T (p.Val255=)
|
rs368722418
|
0.00017
|
NM_000368.5(TSC1):c.*1251C>T
|
rs773490178
|
0.00016
|
NM_001044385.3(TMEM237):c.*3123T>A
|
rs866645983
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001134831.2(AHI1):c.-214C>T
|
rs183265971
|
0.00016
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_002449.5(MSX2):c.*647C>T
|
rs751312423
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_018718.3(CEP41):c.*2786A>C
|
rs782016580
|
0.00016
|
NM_018718.3(CEP41):c.*705G>A
|
rs782543502
|
0.00016
|
NM_021926.4(ALX4):c.*2469T>C
|
rs886048293
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_025265.4(TSEN2):c.*458C>T
|
rs559783669
|
0.00016
|
NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys)
|
rs140979604
|
0.00016
|
NM_138959.3(VANGL1):c.*2009C>T
|
rs181543393
|
0.00016
|
NM_138959.3(VANGL1):c.*6681A>G
|
rs968357183
|
0.00016
|
NM_138959.3(VANGL1):c.*6837A>G
|
rs1056160668
|
0.00016
|
NM_000368.5(TSC1):c.*3034T>C
|
rs764220703
|
0.00015
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
0.00015
|
NM_021926.4(ALX4):c.*1003C>A
|
rs776365654
|
0.00015
|
NM_138959.3(VANGL1):c.*4272T>G
|
rs777221691
|
0.00015
|
NM_001009894.3(RLIG1):c.*594T>C
|
rs376016171
|
0.00014
|
NM_001134831.2(AHI1):c.189+12T>C
|
rs199617785
|
0.00014
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
NM_003384.2(VRK1):c.-81C>T
|
rs886050948
|
0.00014
|
NM_015272.5(RPGRIP1L):c.*332T>G
|
rs544840421
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)
|
rs141201084
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_016955.4(SEPSECS):c.*1122C>T
|
rs770577255
|
0.00014
|
NM_018082.6(POLR3B):c.1956-8C>T
|
rs770497469
|
0.00014
|
NM_018718.3(CEP41):c.*1328T>A
|
rs782132652
|
0.00014
|
NM_018718.3(CEP41):c.*4714T>C
|
rs782085608
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=)
|
rs371073764
|
0.00014
|
NM_138959.3(VANGL1):c.*4347C>T
|
rs138485279
|
0.00014
|
NM_138959.3(VANGL1):c.*5351G>A
|
rs762453158
|
0.00014
|
NM_138959.3(VANGL1):c.231G>A (p.Thr77=)
|
rs186509771
|
0.00014
|
NM_138959.3(VANGL1):c.868T>C (p.Tyr290His)
|
rs145309218
|
0.00014
|
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
|
rs371505908
|
0.00014
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_002449.5(MSX2):c.*144C>T
|
rs530005338
|
0.00013
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_153240.5(NPHP3):c.3570+4A>G
|
rs374989123
|
0.00013
|
NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys)
|
rs181911810
|
0.00013
|
NM_001044385.3(TMEM237):c.*1151C>T
|
rs188943302
|
0.00012
|
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser)
|
rs199563573
|
0.00012
|
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=)
|
rs199688524
|
0.00012
|
NM_016955.4(SEPSECS):c.*1614T>C
|
rs151120379
|
0.00012
|
NM_016955.4(SEPSECS):c.*328A>T
|
rs796305783
|
0.00012
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_138959.3(VANGL1):c.*1545A>G
|
rs117337677
|
0.00012
|
NM_138959.3(VANGL1):c.*6128T>C
|
rs181588954
|
0.00012
|
NM_138959.3(VANGL1):c.*6474T>G
|
rs886045152
|
0.00012
|
NM_153240.5(NPHP3):c.*46A>G
|
rs530016526
|
0.00012
|
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val)
|
rs140097468
|
0.00012
|
NM_000368.5(TSC1):c.*1452A>C
|
rs969974293
|
0.00011
|
NM_000368.5(TSC1):c.*499C>T
|
rs530003850
|
0.00011
|
NM_000368.5(TSC1):c.*60T>G
|
rs577329896
|
0.00011
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)
|
rs368886216
|
0.00011
|
NM_002449.5(MSX2):c.*1312A>G
|
rs886060434
|
0.00011
|
NM_015272.5(RPGRIP1L):c.*588A>G
|
rs894081042
|
0.00011
|
NM_016042.4(EXOSC3):c.*402C>T
|
rs567641975
|
0.00011
|
NM_016464.5(TMEM138):c.-23G>A
|
rs192056545
|
0.00011
|
NM_016464.5(TMEM138):c.-55G>A
|
rs555405590
|
0.00011
|
NM_016464.5(TMEM138):c.-71G>A
|
rs199532763
|
0.00011
|
NM_016955.4(SEPSECS):c.1027-7G>A
|
rs374407543
|
0.00011
|
NM_016955.4(SEPSECS):c.389-8A>C
|
rs368514215
|
0.00011
|
NM_018718.3(CEP41):c.*1773A>G
|
rs782011799
|
0.00011
|
NM_018718.3(CEP41):c.*859G>A
|
rs781930185
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
NM_021926.4(ALX4):c.*3134G>A
|
rs766967309
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_138959.3(VANGL1):c.*3049G>C
|
rs1040113254
|
0.00011
|
NM_138959.3(VANGL1):c.*4846G>C
|
rs868558700
|
0.00011
|
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)
|
rs117872197
|
0.00011
|
NM_000368.5(TSC1):c.*4248C>T
|
rs886063567
|
0.00010
|
NM_001044385.3(TMEM237):c.*1148A>G
|
rs558665286
|
0.00010
|
NM_001044385.3(TMEM237):c.*1762G>A
|
rs886055441
|
0.00010
|
NM_001044385.3(TMEM237):c.*2465A>G
|
rs527921749
|
0.00010
|
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)
|
rs372030704
|
0.00010
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
0.00010
|
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His)
|
rs375083236
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_015272.5(RPGRIP1L):c.*1207G>A
|
rs561880798
|
0.00010
|
NM_016042.4(EXOSC3):c.*63T>G
|
rs753180747
|
0.00010
|
NM_016464.5(TMEM138):c.*92G>C
|
rs372997712
|
0.00010
|
NM_018082.6(POLR3B):c.615-3T>C
|
rs368511518
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_020320.5(RARS2):c.1306-8C>T
|
rs375589432
|
0.00010
|
NM_021926.4(ALX4):c.*1408G>T
|
rs886048300
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025265.4(TSEN2):c.-355C>T
|
rs886057905
|
0.00010
|
NM_178161.3(PTF1A):c.*283T>C
|
rs957501007
|
0.00010
|
NM_000272.3(NPHP1):c.-54C>T
|
rs777453061
|
0.00009
|
NM_001044385.3(TMEM237):c.*492T>C
|
rs530304720
|
0.00009
|
NM_001044385.3(TMEM237):c.-61G>A
|
rs571550977
|
0.00009
|
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)
|
rs368077581
|
0.00009
|
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His)
|
rs373906628
|
0.00009
|
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg)
|
rs375167917
|
0.00009
|
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)
|
rs200904521
|
0.00009
|
NM_015272.5(RPGRIP1L):c.*1883C>G
|
rs886052086
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_016955.4(SEPSECS):c.*1637G>A
|
rs781169592
|
0.00009
|
NM_016955.4(SEPSECS):c.*1727G>A
|
rs886059345
|
0.00009
|
NM_016955.4(SEPSECS):c.*2179T>C
|
rs886059344
|
0.00009
|
NM_018082.6(POLR3B):c.3390G>C (p.Lys1130Asn)
|
rs201527706
|
0.00009
|
NM_018718.3(CEP41):c.*1644A>G
|
rs533265295
|
0.00009
|
NM_018718.3(CEP41):c.*2111A>G
|
rs180725211
|
0.00009
|
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
|
rs201834429
|
0.00009
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_025265.4(TSEN2):c.748G>A (p.Asp250Asn)
|
rs757172883
|
0.00009
|
NM_138959.3(VANGL1):c.*3290A>G
|
rs1378359750
|
0.00009
|
NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu)
|
rs78535164
|
0.00009
|
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)
|
rs146054765
|
0.00009
|
NM_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_016042.4(EXOSC3):c.*611A>G
|
rs939514834
|
0.00008
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
NM_016955.4(SEPSECS):c.*1648G>A
|
rs117876262
|
0.00008
|
NM_018082.6(POLR3B):c.*60A>G
|
rs560425343
|
0.00008
|
NM_018718.3(CEP41):c.*3965A>G
|
rs781992723
|
0.00008
|
NM_025265.4(TSEN2):c.*56A>T
|
rs749423706
|
0.00008
|
NM_025265.4(TSEN2):c.635A>C (p.Glu212Ala)
|
rs201734805
|
0.00008
|
NM_138959.3(VANGL1):c.*932dup
|
rs886045124
|
0.00008
|
NM_138959.3(VANGL1):c.612C>T (p.Tyr204=)
|
rs577862345
|
0.00008
|
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)
|
rs765722959
|
0.00008
|
NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile)
|
rs1162744670
|
0.00008
|
NM_207346.3(TSEN54):c.1452C>T (p.Asp484=)
|
rs767631739
|
0.00008
|
NM_000368.5(TSC1):c.*4492T>C
|
rs889436708
|
0.00007
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
NM_001173990.3(TMEM216):c.*525T>G
|
rs982189283
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)
|
rs369451829
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)
|
rs750235612
|
0.00007
|
NM_018082.6(POLR3B):c.2179T>C (p.Leu727=)
|
rs375960295
|
0.00007
|
NM_018718.3(CEP41):c.*1284A>G
|
rs376297063
|
0.00007
|
NM_021926.4(ALX4):c.*229G>A
|
rs920950667
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His)
|
rs368126549
|
0.00007
|
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met)
|
rs150867534
|
0.00007
|
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr)
|
rs1443229654
|
0.00007
|
NM_000368.5(TSC1):c.*2724C>T
|
rs749535135
|
0.00006
|
NM_000368.5(TSC1):c.*4254G>A
|
rs139801034
|
0.00006
|
NM_000368.5(TSC1):c.*806T>C
|
rs191614777
|
0.00006
|
NM_001044385.3(TMEM237):c.*1560C>T
|
rs983166297
|
0.00006
|
NM_001044385.3(TMEM237):c.*3992A>G
|
rs768173661
|
0.00006
|
NM_001077446.4(TSEN34):c.*458C>T
|
rs905318412
|
0.00006
|
NM_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
0.00006
|
NM_001134831.2(AHI1):c.10+13T>C
|
rs973391845
|
0.00006
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00006
|
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)
|
rs200368187
|
0.00006
|
NM_001134831.2(AHI1):c.708A>G (p.Lys236=)
|
rs368281930
|
0.00006
|
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)
|
rs201590073
|
0.00006
|
NM_001173990.3(TMEM216):c.*372C>T
|
rs565159932
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)
|
rs200034384
|
0.00006
|
NM_002449.5(MSX2):c.*106C>T
|
rs747163618
|
0.00006
|
NM_002449.5(MSX2):c.*465C>T
|
rs554165494
|
0.00006
|
NM_002449.5(MSX2):c.*526T>C
|
rs532200136
|
0.00006
|
NM_002449.5(MSX2):c.*863A>G
|
rs886060431
|
0.00006
|
NM_002449.5(MSX2):c.286G>T (p.Val96Leu)
|
rs769329948
|
0.00006
|
NM_003384.3(VRK1):c.*107A>G
|
rs375987917
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*1276G>A
|
rs375800554
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*418G>A
|
rs886052090
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*980T>C
|
rs886052087
|
0.00006
|
NM_016464.5(TMEM138):c.*354C>G
|
rs889868449
|
0.00006
|
NM_016464.5(TMEM138):c.*547C>T
|
rs781358495
|
0.00006
|
NM_016464.5(TMEM138):c.-164T>C
|
rs886048407
|
0.00006
|
NM_016955.4(SEPSECS):c.*2645A>G
|
rs143152362
|
0.00006
|
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val)
|
rs202043298
|
0.00006
|
NM_018082.6(POLR3B):c.*587G>C
|
rs576237770
|
0.00006
|
NM_018082.6(POLR3B):c.106-3T>C
|
rs368216350
|
0.00006
|
NM_018082.6(POLR3B):c.2933G>A (p.Arg978His)
|
rs117293015
|
0.00006
|
NM_018718.3(CEP41):c.*1411G>T
|
rs886061996
|
0.00006
|
NM_018718.3(CEP41):c.*409A>C
|
rs782042681
|
0.00006
|
NM_018718.3(CEP41):c.*776G>A
|
rs374833862
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val)
|
rs200632524
|
0.00006
|
NM_021926.4(ALX4):c.*2431C>T
|
rs886048294
|
0.00006
|
NM_021926.4(ALX4):c.*2478T>C
|
rs187228888
|
0.00006
|
NM_021926.4(ALX4):c.1185C>G (p.Ala395=)
|
rs751941183
|
0.00006
|
NM_021926.4(ALX4):c.1206G>A (p.Glu402=)
|
rs375068808
|
0.00006
|
NM_025114.4(CEP290):c.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_025114.4(CEP290):c.5709+12A>G
|
rs371010287
|
0.00006
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
NM_025265.4(TSEN2):c.*211C>T
|
rs886057911
|
0.00006
|
NM_025265.4(TSEN2):c.1104A>G (p.Leu368=)
|
rs761076607
|
0.00006
|
NM_138959.3(VANGL1):c.*2107A>G
|
rs886045130
|
0.00006
|
NM_138959.3(VANGL1):c.*3844A>G
|
rs528983735
|
0.00006
|
NM_138959.3(VANGL1):c.*4800C>A
|
rs1027382711
|
0.00006
|
NM_138959.3(VANGL1):c.1299C>T (p.Asn433=)
|
rs145137292
|
0.00006
|
NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln)
|
rs761123443
|
0.00006
|
NM_138959.3(VANGL1):c.812+9C>T
|
rs370321176
|
0.00006
|
NM_153240.5(NPHP3):c.*784C>T
|
rs376015619
|
0.00006
|
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)
|
rs147836124
|
0.00006
|
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe)
|
rs200233813
|
0.00006
|
NM_000368.5(TSC1):c.*824C>T
|
rs886063613
|
0.00005
|
NM_001044385.3(TMEM237):c.*3385C>T
|
rs374762322
|
0.00005
|
NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro)
|
rs778510316
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
0.00005
|
NM_002449.5(MSX2):c.*46G>T
|
rs375964205
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_018082.6(POLR3B):c.3147A>G (p.Glu1049=)
|
rs772975950
|
0.00005
|
NM_018082.6(POLR3B):c.3273-7G>A
|
rs373580359
|
0.00005
|
NM_018718.3(CEP41):c.*1352G>A
|
rs1380245671
|
0.00005
|
NM_018718.3(CEP41):c.*1538A>C
|
rs777673385
|
0.00005
|
NM_018718.3(CEP41):c.*3193C>T
|
rs886061989
|
0.00005
|
NM_018718.3(CEP41):c.*4769C>T
|
rs965337048
|
0.00005
|
NM_018718.3(CEP41):c.*614A>G
|
rs781791465
|
0.00005
|
NM_018718.3(CEP41):c.*682A>G
|
rs782649697
|
0.00005
|
NM_018718.3(CEP41):c.*881G>A
|
rs782801860
|
0.00005
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_207346.3(TSEN54):c.1030C>T (p.Arg344Cys)
|
rs759944703
|
0.00005
|
NM_207346.3(TSEN54):c.1430+5G>A
|
rs367823640
|
0.00005
|
NM_000368.5(TSC1):c.*1972A>C
|
rs917117694
|
0.00004
|
NM_000368.5(TSC1):c.*2638C>T
|
rs373845353
|
0.00004
|
NM_000368.5(TSC1):c.*4515G>A
|
rs886063565
|
0.00004
|
NM_000368.5(TSC1):c.*4538A>G
|
rs1036825417
|
0.00004
|
NM_001044385.3(TMEM237):c.*1108A>G
|
rs758086204
|
0.00004
|
NM_001044385.3(TMEM237):c.*2964T>A
|
rs955949981
|
0.00004
|
NM_001044385.3(TMEM237):c.*74T>C
|
rs190276722
|
0.00004
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
|
rs761804458
|
0.00004
|
NM_001134831.2(AHI1):c.2492+15G>A
|
rs535243555
|
0.00004
|
NM_001173990.2(TMEM216):c.-264C>T
|
rs1365742655
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn)
|
rs373797532
|
0.00004
|
NM_002449.5(MSX2):c.*102C>T
|
rs886060426
|
0.00004
|
NM_003384.3(VRK1):c.-11C>T
|
rs1055946372
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_016955.4(SEPSECS):c.*1574T>C
|
rs886059349
|
0.00004
|
NM_016955.4(SEPSECS):c.*1620C>T
|
rs886059348
|
0.00004
|
NM_018082.6(POLR3B):c.3018C>T (p.Pro1006=)
|
rs373346251
|
0.00004
|
NM_018082.6(POLR3B):c.3098+8A>G
|
rs753390602
|
0.00004
|
NM_018718.3(CEP41):c.*3451G>A
|
rs144534675
|
0.00004
|
NM_018718.3(CEP41):c.*4385C>T
|
rs556578226
|
0.00004
|
NM_018718.3(CEP41):c.*747G>A
|
rs782582354
|
0.00004
|
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)
|
rs749061654
|
0.00004
|
NM_021926.4(ALX4):c.*1076C>T
|
rs1031249586
|
0.00004
|
NM_021926.4(ALX4):c.*1599C>T
|
rs561685019
|
0.00004
|
NM_021926.4(ALX4):c.*18G>A
|
rs749052167
|
0.00004
|
NM_021926.4(ALX4):c.*3112C>T
|
rs886048286
|
0.00004
|
NM_021926.4(ALX4):c.*3259G>A
|
rs1054318916
|
0.00004
|
NM_025114.4(CEP290):c.-96C>T
|
rs528270888
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)
|
rs765709669
|
0.00004
|
NM_025265.4(TSEN2):c.-222G>A
|
rs533687592
|
0.00004
|
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter)
|
rs201467485
|
0.00004
|
NM_025265.4(TSEN2):c.768G>A (p.Glu256=)
|
rs200009549
|
0.00004
|
NM_138959.3(VANGL1):c.*1456T>C
|
rs886045126
|
0.00004
|
NM_138959.3(VANGL1):c.*1638A>G
|
rs756347879
|
0.00004
|
NM_138959.3(VANGL1):c.*1748C>T
|
rs143344734
|
0.00004
|
NM_138959.3(VANGL1):c.51G>A (p.Ser17=)
|
rs575493003
|
0.00004
|
NM_138959.3(VANGL1):c.681G>A (p.Val227=)
|
rs201698322
|
0.00004
|
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)
|
rs563403703
|
0.00004
|
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr)
|
rs771832737
|
0.00004
|
NM_207346.3(TSEN54):c.1430+4C>T
|
rs202109896
|
0.00004
|
NM_000368.5(TSC1):c.*1000A>G
|
rs886063610
|
0.00003
|
NM_000368.5(TSC1):c.*1680G>A
|
rs532372427
|
0.00003
|
NM_000368.5(TSC1):c.*2949A>T
|
rs886063588
|
0.00003
|
NM_000368.5(TSC1):c.*4845G>T
|
rs886063562
|
0.00003
|
NM_001044385.3(TMEM237):c.*3697G>A
|
rs761856568
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001077446.4(TSEN34):c.*358T>C
|
rs762136353
|
0.00003
|
NM_001077446.4(TSEN34):c.675A>G (p.Arg225=)
|
rs375366303
|
0.00003
|
NM_001134831.2(AHI1):c.*1684T>C
|
rs75518881
|
0.00003
|
NM_001134831.2(AHI1):c.*387T>G
|
rs886061107
|
0.00003
|
NM_001134831.2(AHI1):c.*588A>G
|
rs555215397
|
0.00003
|
NM_001134831.2(AHI1):c.-347C>T
|
rs1456963108
|
0.00003
|
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=)
|
rs548478362
|
0.00003
|
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
|
rs200355875
|
0.00003
|
NM_001173990.3(TMEM216):c.*93T>C
|
rs746881860
|
0.00003
|
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)
|
rs35314485
|
0.00003
|
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly)
|
rs758963962
|
0.00003
|
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)
|
rs1379770755
|
0.00003
|
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg)
|
rs763466980
|
0.00003
|
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)
|
rs200044412
|
0.00003
|
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys)
|
rs376969878
|
0.00003
|
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser)
|
rs776218196
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
NM_015272.5(RPGRIP1L):c.*119C>T
|
rs886052091
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)
|
rs536037779
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)
|
rs377402117
|
0.00003
|
NM_016464.5(TMEM138):c.*264C>G
|
rs886048409
|
0.00003
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
0.00003
|
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)
|
rs773969315
|
0.00003
|
NM_018082.6(POLR3B):c.2905G>A (p.Val969Met)
|
rs200477676
|
0.00003
|
NM_018082.6(POLR3B):c.3087C>T (p.Ala1029=)
|
rs886048901
|
0.00003
|
NM_018718.3(CEP41):c.*2669A>G
|
rs905679390
|
0.00003
|
NM_018718.3(CEP41):c.*2849A>G
|
rs1288708394
|
0.00003
|
NM_018718.3(CEP41):c.*3040G>A
|
rs566129615
|
0.00003
|
NM_018718.3(CEP41):c.*3044A>G
|
rs886061991
|
0.00003
|
NM_018718.3(CEP41):c.*333C>T
|
rs886062000
|
0.00003
|
NM_018718.3(CEP41):c.*4007C>T
|
rs782719854
|
0.00003
|
NM_018718.3(CEP41):c.*578T>C
|
rs782132140
|
0.00003
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
NM_021926.4(ALX4):c.*1466G>A
|
rs552492615
|
0.00003
|
NM_021926.4(ALX4):c.*1710T>C
|
rs886048297
|
0.00003
|
NM_021926.4(ALX4):c.*79G>A
|
rs886048304
|
0.00003
|
NM_021926.4(ALX4):c.291G>A (p.Pro97=)
|
rs767580968
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)
|
rs761111801
|
0.00003
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
0.00003
|
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)
|
rs572443869
|
0.00003
|
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
|
rs754462052
|
0.00003
|
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)
|
rs754398792
|
0.00003
|
NM_025265.4(TSEN2):c.1249-12A>G
|
rs370637450
|
0.00003
|
NM_138959.3(VANGL1):c.*5036G>A
|
rs1432374941
|
0.00003
|
NM_138959.3(VANGL1):c.*5993C>G
|
rs886045150
|
0.00003
|
NM_138959.3(VANGL1):c.*6360C>T
|
rs886045151
|
0.00003
|
NM_138959.3(VANGL1):c.*6640G>A
|
rs746958675
|
0.00003
|
NM_138959.3(VANGL1):c.1023C>T (p.Asn341=)
|
rs543050989
|
0.00003
|
NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys)
|
rs778860160
|
0.00003
|
NM_153240.5(NPHP3):c.*1213T>C
|
rs886057994
|
0.00003
|
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
|
rs750280281
|
0.00003
|
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=)
|
rs372990521
|
0.00003
|
NM_207346.3(TSEN54):c.*167T>C
|
rs886053401
|
0.00003
|
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)
|
rs151332020
|
0.00003
|
NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln)
|
rs886043563
|
0.00003
|
NM_000368.5(TSC1):c.*2515T>C
|
rs886878529
|
0.00002
|
NM_000368.5(TSC1):c.*2637C>G
|
rs538802838
|
0.00002
|
NM_000368.5(TSC1):c.*2647C>T
|
rs886063595
|
0.00002
|
NM_000368.5(TSC1):c.*3272A>G
|
rs866920023
|
0.00002
|
NM_000368.5(TSC1):c.*448G>A
|
rs886063617
|
0.00002
|
NM_000368.5(TSC1):c.*4522C>T
|
rs918338551
|
0.00002
|
NM_000368.5(TSC1):c.*941A>G
|
rs189368676
|
0.00002
|
NM_000368.5(TSC1):c.-214C>T
|
rs886063628
|
0.00002
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
NM_001077446.4(TSEN34):c.*999A>G
|
rs1437168457
|
0.00002
|
NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys)
|
rs758855323
|
0.00002
|
NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln)
|
rs200274242
|
0.00002
|
NM_001077446.4(TSEN34):c.591C>G (p.Ala197=)
|
rs781446570
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001134831.2(AHI1):c.*1426A>T
|
rs886061101
|
0.00002
|
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
|
rs371835751
|
0.00002
|
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala)
|
rs1380307778
|
0.00002
|
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln)
|
rs372888581
|
0.00002
|
NM_001173990.3(TMEM216):c.*335G>A
|
rs886048414
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
0.00002
|
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
|
rs541135799
|
0.00002
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp)
|
rs369648324
|
0.00002
|
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)
|
rs748886997
|
0.00002
|
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
|
rs745599580
|
0.00002
|
NM_002449.5(MSX2):c.*126T>C
|
rs1242791605
|
0.00002
|
NM_015272.5(RPGRIP1L):c.*1206C>T
|
rs1437795784
|
0.00002
|
NM_015272.5(RPGRIP1L):c.*822A>G
|
rs554221378
|
0.00002
|
NM_015272.5(RPGRIP1L):c.-7-10T>C
|
rs886052099
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
NM_016042.4(EXOSC3):c.*194G>C
|
rs886063933
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016464.5(TMEM138):c.*548G>A
|
rs1565080891
|
0.00002
|
NM_016955.4(SEPSECS):c.*112T>C
|
rs886059353
|
0.00002
|
NM_016955.4(SEPSECS):c.*1659C>A
|
rs1356086552
|
0.00002
|
NM_016955.4(SEPSECS):c.*2250A>G
|
rs886059343
|
0.00002
|
NM_016955.4(SEPSECS):c.*327G>A
|
rs1179436290
|
0.00002
|
NM_016955.4(SEPSECS):c.389-10T>C
|
rs777854893
|
0.00002
|
NM_018082.6(POLR3B):c.2731G>A (p.Val911Ile)
|
rs770365711
|
0.00002
|
NM_018082.6(POLR3B):c.846+14T>C
|
rs774557688
|
0.00002
|
NM_018718.3(CEP41):c.*2605C>T
|
rs886061992
|
0.00002
|
NM_018718.3(CEP41):c.*277A>G
|
rs886062001
|
0.00002
|
NM_018718.3(CEP41):c.*4417G>A
|
rs886061988
|
0.00002
|
NM_018718.3(CEP41):c.*4464T>C
|
rs886061987
|
0.00002
|
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_021926.4(ALX4):c.*1157C>A
|
rs886048302
|
0.00002
|
NM_021926.4(ALX4):c.*2030G>A
|
rs886048296
|
0.00002
|
NM_021926.4(ALX4):c.*3755_*3760del
|
rs886048284
|
0.00002
|
NM_021926.4(ALX4):c.*3825G>C
|
rs538499078
|
0.00002
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
|
rs752046733
|
0.00002
|
NM_025265.4(TSEN2):c.-160C>G
|
rs372043523
|
0.00002
|
NM_025265.4(TSEN2):c.-224G>C
|
rs1175377888
|
0.00002
|
NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile)
|
rs1178412243
|
0.00002
|
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser)
|
rs202056552
|
0.00002
|
NM_025265.4(TSEN2):c.961-14G>A
|
rs748777382
|
0.00002
|
NM_138959.3(VANGL1):c.*2329C>T
|
rs188964296
|
0.00002
|
NM_138959.3(VANGL1):c.*4463A>G
|
rs886045142
|
0.00002
|
NM_138959.3(VANGL1):c.1529A>G (p.Lys510Arg)
|
rs375459125
|
0.00002
|
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val)
|
rs140594430
|
0.00002
|
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=)
|
rs777768843
|
0.00002
|
NM_153240.5(NPHP3):c.384C>G (p.Ala128=)
|
rs201425936
|
0.00002
|
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu)
|
rs886046909
|
0.00002
|
NM_178161.3(PTF1A):c.654C>A (p.Leu218=)
|
rs886046910
|
0.00002
|
NM_207346.3(TSEN54):c.1205G>T (p.Gly402Val)
|
rs1383991855
|
0.00002
|
NM_207346.3(TSEN54):c.1385G>A (p.Arg462Gln)
|
rs778218563
|
0.00002
|
NM_207346.3(TSEN54):c.867G>A (p.Thr289=)
|
rs751120868
|
0.00002
|
NM_000368.4(TSC1):c.-227G>A
|
rs886063629
|
0.00001
|
NM_000368.5(TSC1):c.*1215G>A
|
rs1013608610
|
0.00001
|
NM_000368.5(TSC1):c.*1349G>A
|
rs1195760994
|
0.00001
|
NM_000368.5(TSC1):c.*1519del
|
rs886063607
|
0.00001
|
NM_000368.5(TSC1):c.*1970G>A
|
rs886063603
|
0.00001
|
NM_000368.5(TSC1):c.*2104A>G
|
rs1019153783
|
0.00001
|
NM_000368.5(TSC1):c.*2446A>G
|
rs558966777
|
0.00001
|
NM_000368.5(TSC1):c.*249G>A
|
rs1296777494
|
0.00001
|
NM_000368.5(TSC1):c.*250G>C
|
rs1309725348
|
0.00001
|
NM_000368.5(TSC1):c.*2576T>C
|
rs886063599
|
0.00001
|
NM_000368.5(TSC1):c.*2829A>G
|
rs886063591
|
0.00001
|
NM_000368.5(TSC1):c.*2890A>G
|
rs946784136
|
0.00001
|
NM_000368.5(TSC1):c.*333C>A
|
rs886063618
|
0.00001
|
NM_000368.5(TSC1):c.*3484A>G
|
rs1335423130
|
0.00001
|
NM_000368.5(TSC1):c.*3959T>C
|
rs1445439695
|
0.00001
|
NM_000368.5(TSC1):c.*4128G>A
|
rs886063572
|
0.00001
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00001
|
NM_001009894.3(RLIG1):c.*611A>G
|
rs2033206514
|
0.00001
|
NM_001044385.3(TMEM237):c.*1330C>T
|
rs1016616892
|
0.00001
|
NM_001044385.3(TMEM237):c.*1378A>G
|
rs886055443
|
0.00001
|
NM_001044385.3(TMEM237):c.*1561G>A
|
rs563393191
|
0.00001
|
NM_001044385.3(TMEM237):c.*1603T>G
|
rs886055442
|
0.00001
|
NM_001044385.3(TMEM237):c.*1835C>T
|
rs1414626161
|
0.00001
|
NM_001044385.3(TMEM237):c.*1965G>A
|
rs947203821
|
0.00001
|
NM_001044385.3(TMEM237):c.*2044T>C
|
rs886055440
|
0.00001
|
NM_001044385.3(TMEM237):c.*2495C>G
|
rs1459433205
|
0.00001
|
NM_001044385.3(TMEM237):c.*3997A>G
|
rs1387630894
|
0.00001
|
NM_001044385.3(TMEM237):c.*3C>A
|
rs749132259
|
0.00001
|
NM_001044385.3(TMEM237):c.-59G>A
|
rs886055449
|
0.00001
|
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=)
|
rs747915597
|
0.00001
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
0.00001
|
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met)
|
rs886055448
|
0.00001
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val)
|
rs773512396
|
0.00001
|
NM_001077446.4(TSEN34):c.*758T>G
|
rs989200379
|
0.00001
|
NM_001077446.4(TSEN34):c.*836C>T
|
rs1476835074
|
0.00001
|
NM_001077446.4(TSEN34):c.*94C>T
|
rs886054626
|
0.00001
|
NM_001077446.4(TSEN34):c.153G>A (p.Leu51=)
|
rs1276930053
|
0.00001
|
NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro)
|
rs767815202
|
0.00001
|
NM_001077446.4(TSEN34):c.765C>T (p.His255=)
|
rs148706818
|
0.00001
|
NM_001077446.4(TSEN34):c.786C>T (p.Cys262=)
|
rs749845322
|
0.00001
|
NM_001080522.2(CC2D2A):c.*144A>C
|
rs920755267
|
0.00001
|
NM_001128178.3(NPHP1):c.*322A>G
|
rs886054752
|
0.00001
|
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)
|
rs147090619
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+15T>C
|
rs368590150
|
0.00001
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
0.00001
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
0.00001
|
NM_001134831.2(AHI1):c.*1327C>T
|
rs371457794
|
0.00001
|
NM_001134831.2(AHI1):c.*1646T>C
|
rs886061100
|
0.00001
|
NM_001134831.2(AHI1):c.*68C>T
|
rs886061108
|
0.00001
|
NM_001134831.2(AHI1):c.*80C>T
|
rs536580823
|
0.00001
|
NM_001134831.2(AHI1):c.-54G>T
|
rs1162660693
|
0.00001
|
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met)
|
rs780336496
|
0.00001
|
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
|
rs1380121460
|
0.00001
|
NM_001134831.2(AHI1):c.2765-9T>C
|
rs374852342
|
0.00001
|
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)
|
rs538724792
|
0.00001
|
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)
|
rs775305093
|
0.00001
|
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)
|
rs760858792
|
0.00001
|
NM_001134831.2(AHI1):c.2962-13G>A
|
rs927158679
|
0.00001
|
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
|
rs756637497
|
0.00001
|
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met)
|
rs781286716
|
0.00001
|
NM_001173990.2(TMEM216):c.-242C>T
|
rs756981776
|
0.00001
|
NM_001173990.3(TMEM216):c.*377T>C
|
rs1260385076
|
0.00001
|
NM_001378615.1(CC2D2A):c.*94T>C
|
rs1296848672
|
0.00001
|
NM_001378615.1(CC2D2A):c.1018-11T>C
|
rs200340261
|
0.00001
|
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)
|
rs368669579
|
0.00001
|
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu)
|
rs759126033
|
0.00001
|
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His)
|
rs886059139
|
0.00001
|
NM_001378615.1(CC2D2A):c.2487-6T>C
|
rs767335431
|
0.00001
|
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)
|
rs765820512
|
0.00001
|
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=)
|
rs886059158
|
0.00001
|
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu)
|
rs886059181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val)
|
rs763775613
|
0.00001
|
NM_001378615.1(CC2D2A):c.3398+7A>G
|
rs772784324
|
0.00001
|
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg)
|
rs886059184
|
0.00001
|
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys)
|
rs371561652
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-12T>G
|
rs769761582
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-14T>A
|
rs766203266
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu)
|
rs201986486
|
0.00001
|
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His)
|
rs113371687
|
0.00001
|
NM_002449.5(MSX2):c.*644C>T
|
rs970685736
|
0.00001
|
NM_002449.5(MSX2):c.635C>G (p.Ala212Gly)
|
rs775062909
|
0.00001
|
NM_003384.3(VRK1):c.*281G>A
|
rs1889257279
|
0.00001
|
NM_003384.3(VRK1):c.*302T>C
|
rs1294884447
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*107G>A
|
rs770837632
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*1597G>A
|
rs1963334195
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*1869A>G
|
rs1224541215
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*262G>A
|
rs563237818
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*269C>T
|
rs190566840
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*53G>A
|
rs1963400312
|
0.00001
|
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)
|
rs755258407
|
0.00001
|
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)
|
rs550006406
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)
|
rs201737322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)
|
rs117364872
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
|
rs768672275
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)
|
rs371616177
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)
|
rs886038619
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)
|
rs746806282
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)
|
rs776310931
|
0.00001
|
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)
|
rs1167981125
|
0.00001
|
NM_016042.4(EXOSC3):c.*312T>G
|
rs1044154281
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016464.5(TMEM138):c.-17G>A
|
rs757369483
|
0.00001
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
0.00001
|
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
NM_016955.4(SEPSECS):c.*1008T>C
|
rs375166577
|
0.00001
|
NM_016955.4(SEPSECS):c.*2921A>G
|
rs1407421050
|
0.00001
|
NM_016955.4(SEPSECS):c.*354C>T
|
rs572862359
|
0.00001
|
NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile)
|
rs753701192
|
0.00001
|
NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=)
|
rs921485863
|
0.00001
|
NM_018082.5(POLR3B):c.*653C>T
|
rs1252707400
|
0.00001
|
NM_018082.6(POLR3B):c.*205G>C
|
rs2038746494
|
0.00001
|
NM_018082.6(POLR3B):c.*98C>T
|
rs532224514
|
0.00001
|
NM_018082.6(POLR3B):c.1038A>G (p.Gln346=)
|
rs886048898
|
0.00001
|
NM_018082.6(POLR3B):c.1263+1G>A
|
rs1565893138
|
0.00001
|
NM_018082.6(POLR3B):c.1602A>G (p.Pro534=)
|
rs200983703
|
0.00001
|
NM_018082.6(POLR3B):c.2843C>T (p.Ala948Val)
|
rs779604405
|
0.00001
|
NM_018082.6(POLR3B):c.3105C>T (p.Pro1035=)
|
rs778281040
|
0.00001
|
NM_018082.6(POLR3B):c.423T>C (p.Arg141=)
|
rs886048896
|
0.00001
|
NM_018082.6(POLR3B):c.733G>A (p.Val245Ile)
|
rs751975109
|
0.00001
|
NM_018082.6(POLR3B):c.780C>T (p.His260=)
|
rs937446537
|
0.00001
|
NM_018082.6(POLR3B):c.966+14C>T
|
rs779555589
|
0.00001
|
NM_018082.6(POLR3B):c.967-9G>A
|
rs754613008
|
0.00001
|
NM_018718.3(CEP41):c.*1205G>T
|
rs1554415397
|
0.00001
|
NM_018718.3(CEP41):c.*1766T>C
|
rs1211217706
|
0.00001
|
NM_018718.3(CEP41):c.*2159C>T
|
rs886061995
|
0.00001
|
NM_018718.3(CEP41):c.*2709G>A
|
rs1342689782
|
0.00001
|
NM_018718.3(CEP41):c.*4505G>T
|
rs1554413676
|
0.00001
|
NM_018718.3(CEP41):c.*4994T>C
|
rs527933839
|
0.00001
|
NM_018718.3(CEP41):c.*55G>A
|
rs782471506
|
0.00001
|
NM_018718.3(CEP41):c.*832A>C
|
rs1554415585
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu)
|
rs111688621
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
NM_020320.5(RARS2):c.1367G>A (p.Arg456His)
|
rs144447777
|
0.00001
|
NM_020320.5(RARS2):c.26T>C (p.Ile9Thr)
|
rs371367255
|
0.00001
|
NM_020320.5(RARS2):c.783A>G (p.Val261=)
|
rs770878816
|
0.00001
|
NM_020320.5(RARS2):c.879-13T>C
|
rs765999304
|
0.00001
|
NM_021926.4(ALX4):c.*1025C>T
|
rs142207322
|
0.00001
|
NM_021926.4(ALX4):c.*1135C>T
|
rs886048303
|
0.00001
|
NM_021926.4(ALX4):c.*1356T>C
|
rs886048301
|
0.00001
|
NM_021926.4(ALX4):c.*1627T>G
|
rs1271697400
|
0.00001
|
NM_021926.4(ALX4):c.*2208C>A
|
rs1350470913
|
0.00001
|
NM_021926.4(ALX4):c.*2668T>C
|
rs886048291
|
0.00001
|
NM_021926.4(ALX4):c.*2883C>A
|
rs886048289
|
0.00001
|
NM_021926.4(ALX4):c.*296C>T
|
rs867734583
|
0.00001
|
NM_021926.4(ALX4):c.*3016G>A
|
rs886048288
|
0.00001
|
NM_021926.4(ALX4):c.*3220G>A
|
rs1956182984
|
0.00001
|
NM_021926.4(ALX4):c.*3949C>G
|
rs1956178633
|
0.00001
|
NM_021926.4(ALX4):c.*4094T>C
|
rs1030516530
|
0.00001
|
NM_021926.4(ALX4):c.1163G>A (p.Arg388His)
|
rs756876780
|
0.00001
|
NM_021926.4(ALX4):c.275C>G (p.Pro92Arg)
|
rs1036676266
|
0.00001
|
NM_021926.4(ALX4):c.561G>T (p.Val187=)
|
rs774556630
|
0.00001
|
NM_021926.4(ALX4):c.620C>T (p.Ser207Leu)
|
rs104894197
|
0.00001
|
NM_025114.4(CEP290):c.-203C>A
|
rs961052158
|
0.00001
|
NM_025114.4(CEP290):c.-38G>C
|
rs886049886
|
0.00001
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
|
rs951351175
|
0.00001
|
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly)
|
rs886049882
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
|
rs928926898
|
0.00001
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)
|
rs1159465602
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
0.00001
|
NM_025265.4(TSEN2):c.*95T>C
|
rs528422124
|
0.00001
|
NM_025265.4(TSEN2):c.-105A>G
|
rs770631241
|
0.00001
|
NM_025265.4(TSEN2):c.-13C>T
|
rs780952847
|
0.00001
|
NM_025265.4(TSEN2):c.-18+10G>A
|
rs886057908
|
0.00001
|
NM_025265.4(TSEN2):c.105A>G (p.Lys35=)
|
rs777378178
|
0.00001
|
NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys)
|
rs138662263
|
0.00001
|
NM_025265.4(TSEN2):c.1233C>T (p.Ser411=)
|
rs747491166
|
0.00001
|
NM_025265.4(TSEN2):c.657T>C (p.His219=)
|
rs754200115
|
0.00001
|
NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe)
|
rs760813133
|
0.00001
|
NM_138959.3(VANGL1):c.*1970C>A
|
rs746455152
|
0.00001
|
NM_138959.3(VANGL1):c.*3123A>G
|
rs143712039
|
0.00001
|
NM_138959.3(VANGL1):c.*3150T>C
|
rs148126079
|
0.00001
|
NM_138959.3(VANGL1):c.*3289A>G
|
rs886045136
|
0.00001
|
NM_138959.3(VANGL1):c.*340C>G
|
rs886045121
|
0.00001
|
NM_138959.3(VANGL1):c.*3559G>A
|
rs544552151
|
0.00001
|
NM_138959.3(VANGL1):c.*3708C>T
|
rs1368816704
|
0.00001
|
NM_138959.3(VANGL1):c.*4254A>G
|
rs961390698
|
0.00001
|
NM_138959.3(VANGL1):c.*5066C>G
|
rs751663783
|
0.00001
|
NM_138959.3(VANGL1):c.*929G>A
|
rs886045123
|
0.00001
|
NM_138959.3(VANGL1):c.114C>T (p.Asp38=)
|
rs201840785
|
0.00001
|
NM_138959.3(VANGL1):c.1210G>T (p.Ala404Ser)
|
rs775571796
|
0.00001
|
NM_138959.3(VANGL1):c.1491T>G (p.Ile497Met)
|
rs200739468
|
0.00001
|
NM_138959.3(VANGL1):c.312G>C (p.Gly104=)
|
rs146723580
|
0.00001
|
NM_138959.3(VANGL1):c.572T>C (p.Val191Ala)
|
rs781010619
|
0.00001
|
NM_138959.3(VANGL1):c.619C>T (p.Arg207Cys)
|
rs771534557
|
0.00001
|
NM_138959.3(VANGL1):c.759G>C (p.Gln253His)
|
rs555914402
|
0.00001
|
NM_138959.3(VANGL1):c.914A>T (p.His305Leu)
|
rs886045119
|
0.00001
|
NM_153240.5(NPHP3):c.*1098C>T
|
rs886057995
|
0.00001
|
NM_153240.5(NPHP3):c.*139T>G
|
rs886058001
|
0.00001
|
NM_153240.5(NPHP3):c.*351A>T
|
rs992880401
|
0.00001
|
NM_153240.5(NPHP3):c.*692C>T
|
rs886057997
|
0.00001
|
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)
|
rs1939564898
|
0.00001
|
NM_153240.5(NPHP3):c.208C>T (p.Leu70=)
|
rs765533675
|
0.00001
|
NM_153240.5(NPHP3):c.2571-12C>G
|
rs886058003
|
0.00001
|
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg)
|
rs772079066
|
0.00001
|
NM_153240.5(NPHP3):c.3697-7T>A
|
rs777908405
|
0.00001
|
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala)
|
rs766281273
|
0.00001
|
NM_207346.3(TSEN54):c.1067A>G (p.His356Arg)
|
rs1221250692
|
0.00001
|
NM_207346.3(TSEN54):c.1070C>T (p.Ala357Val)
|
rs760089379
|
0.00001
|
NM_207346.3(TSEN54):c.1486G>A (p.Gly496Arg)
|
rs886053400
|
0.00001
|
NM_207346.3(TSEN54):c.367T>A (p.Cys123Ser)
|
rs1484028244
|
0.00001
|
NM_207346.3(TSEN54):c.369+5G>A
|
rs756343304
|
0.00001
|
NM_207346.3(TSEN54):c.745A>C (p.Ser249Arg)
|
rs761784110
|
0.00001
|
NM_207346.3(TSEN54):c.821G>A (p.Gly274Glu)
|
rs1460815000
|
0.00001
|
NM_000368.5(TSC1):c.*1036C>G
|
rs1844969383
|
|
NM_000368.5(TSC1):c.*1050T>C
|
rs530042727
|
|
NM_000368.5(TSC1):c.*106A>G
|
rs886063620
|
|
NM_000368.5(TSC1):c.*1089G>A
|
rs886063609
|
|
NM_000368.5(TSC1):c.*1239C>T
|
rs1350222885
|
|
NM_000368.5(TSC1):c.*1355C>A
|
rs749683153
|
|
NM_000368.5(TSC1):c.*1519C>T
|
rs886063608
|
|
NM_000368.5(TSC1):c.*1541dup
|
rs748099884
|
|
NM_000368.5(TSC1):c.*1612C>A
|
rs886063605
|
|
NM_000368.5(TSC1):c.*1839G>A
|
rs1170523556
|
|
NM_000368.5(TSC1):c.*1969T>C
|
rs886063604
|
|
NM_000368.5(TSC1):c.*2022G>T
|
rs568052856
|
|
NM_000368.5(TSC1):c.*2213C>A
|
rs539030496
|
|
NM_000368.5(TSC1):c.*2364T>A
|
rs886063602
|
|
NM_000368.5(TSC1):c.*2439C>A
|
rs886063601
|
|
NM_000368.5(TSC1):c.*2475C>A
|
rs886063600
|
|
NM_000368.5(TSC1):c.*2558A>C
|
rs115516164
|
|
NM_000368.5(TSC1):c.*2615C>A
|
rs886063598
|
|
NM_000368.5(TSC1):c.*2632A>G
|
rs886063597
|
|
NM_000368.5(TSC1):c.*2644G>T
|
rs886063596
|
|
NM_000368.5(TSC1):c.*2658G>T
|
rs886063594
|
|
NM_000368.5(TSC1):c.*2679T>C
|
rs886063593
|
|
NM_000368.5(TSC1):c.*2691A>T
|
rs886063592
|
|
NM_000368.5(TSC1):c.*2893dup
|
rs143549363
|
|
NM_000368.5(TSC1):c.*2897A>G
|
rs886063589
|
|
NM_000368.5(TSC1):c.*289T>A
|
rs115091888
|
|
NM_000368.5(TSC1):c.*2924T>C
|
rs1844864883
|
|
NM_000368.5(TSC1):c.*298A>G
|
rs886063619
|
|
NM_000368.5(TSC1):c.*3047C>A
|
rs886063587
|
|
NM_000368.5(TSC1):c.*3063A>T
|
rs886063586
|
|
NM_000368.5(TSC1):c.*3092T>C
|
rs1844856793
|
|
NM_000368.5(TSC1):c.*3170G>A
|
rs367605870
|
|
NM_000368.5(TSC1):c.*3238T>C
|
rs886063585
|
|
NM_000368.5(TSC1):c.*3239G>T
|
rs886063584
|
|
NM_000368.5(TSC1):c.*3240G>T
|
rs886063583
|
|
NM_000368.5(TSC1):c.*3248_*3250del
|
rs886063582
|
|
NM_000368.5(TSC1):c.*3284C>A
|
rs886063581
|
|
NM_000368.5(TSC1):c.*3285G>T
|
rs886063580
|
|
NM_000368.5(TSC1):c.*3330G>T
|
rs553475307
|
|
NM_000368.5(TSC1):c.*350G>A
|
rs1845006725
|
|
NM_000368.5(TSC1):c.*3531G>T
|
rs886063579
|
|
NM_000368.5(TSC1):c.*3543C>A
|
rs886063578
|
|
NM_000368.5(TSC1):c.*3648C>T
|
rs113313202
|
|
NM_000368.5(TSC1):c.*3658G>A
|
rs886063577
|
|
NM_000368.5(TSC1):c.*3685G>A
|
rs1844826893
|
|
NM_000368.5(TSC1):c.*3737C>A
|
rs886063576
|
|
NM_000368.5(TSC1):c.*3836G>A
|
rs572231078
|
|
NM_000368.5(TSC1):c.*3924G>T
|
rs886063575
|
|
NM_000368.5(TSC1):c.*3987A>G
|
rs886063574
|
|
NM_000368.5(TSC1):c.*4072G>A
|
rs886063573
|
|
NM_000368.5(TSC1):c.*4105C>T
|
rs1588276922
|
|
NM_000368.5(TSC1):c.*4119T>C
|
rs1844802090
|
|
NM_000368.5(TSC1):c.*4159G>T
|
rs886063571
|
|
NM_000368.5(TSC1):c.*4167C>A
|
rs886063570
|
|
NM_000368.5(TSC1):c.*4193A>C
|
rs886063569
|
|
NM_000368.5(TSC1):c.*4233G>T
|
rs886063568
|
|
NM_000368.5(TSC1):c.*4248C>A
|
rs886063567
|
|
NM_000368.5(TSC1):c.*4356C>T
|
rs886063566
|
|
NM_000368.5(TSC1):c.*4622G>A
|
rs886063564
|
|
NM_000368.5(TSC1):c.*4631dup
|
rs60000611
|
|
NM_000368.5(TSC1):c.*4826A>C
|
rs886063563
|
|
NM_000368.5(TSC1):c.*548C>A
|
rs886063616
|
|
NM_000368.5(TSC1):c.*583C>A
|
rs886063615
|
|
NM_000368.5(TSC1):c.*817G>T
|
rs886063614
|
|
NM_000368.5(TSC1):c.*859G>T
|
rs886063612
|
|
NM_000368.5(TSC1):c.*920C>A
|
rs886063611
|
|
NM_000368.5(TSC1):c.*936T>C
|
rs1170508811
|
|
NM_000368.5(TSC1):c.-166A>G
|
rs886063626
|
|
NM_000368.5(TSC1):c.-174A>T
|
rs886063627
|
|
NM_000368.5(TSC1):c.-80-10T>C
|
rs886063625
|
|
NM_000368.5(TSC1):c.108C>T (p.Asp36=)
|
rs886063624
|
|
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser)
|
rs1845904791
|
|
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
|
rs1251871091
|
|
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)
|
rs786203799
|
|
NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu)
|
rs397514846
|
|
NM_000368.5(TSC1):c.1997+6G>A
|
rs553762962
|
|
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)
|
rs1369700443
|
|
NM_000368.5(TSC1):c.261A>G (p.Leu87=)
|
rs1407780510
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTA
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-3del
|
rs886063622
|
|
NM_000368.5(TSC1):c.2626-4_2626-3dup
|
rs1554813638
|
|
NM_000368.5(TSC1):c.2946A>G (p.Lys982=)
|
rs1845117521
|
|
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=)
|
rs886063621
|
|
NM_000368.5(TSC1):c.469A>G (p.Ile157Val)
|
rs1846673273
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
NM_001044385.3(TMEM237):c.*1303G>A
|
rs886055444
|
|
NM_001044385.3(TMEM237):c.*1436G>T
|
rs528180812
|
|
NM_001044385.3(TMEM237):c.*1606T>C
|
rs1000633418
|
|
NM_001044385.3(TMEM237):c.*1879G>A
|
rs1301264448
|
|
NM_001044385.3(TMEM237):c.*1890G>A
|
rs191383267
|
|
NM_001044385.3(TMEM237):c.*2307A>G
|
rs1957712077
|
|
NM_001044385.3(TMEM237):c.*2448C>A
|
rs1234909902
|
|
NM_001044385.3(TMEM237):c.*2582G>T
|
rs886055439
|
|
NM_001044385.3(TMEM237):c.*2626T>C
|
rs1957709069
|
|
NM_001044385.3(TMEM237):c.*2652A>G
|
rs1957708713
|
|
NM_001044385.3(TMEM237):c.*2670C>T
|
rs1559581980
|
|
NM_001044385.3(TMEM237):c.*2682G>C
|
rs886055438
|
|
NM_001044385.3(TMEM237):c.*283A>C
|
rs886055446
|
|
NM_001044385.3(TMEM237):c.*3013A>G
|
rs886055437
|
|
NM_001044385.3(TMEM237):c.*303C>T
|
rs1957734276
|
|
NM_001044385.3(TMEM237):c.*3350A>T
|
rs561312621
|
|
NM_001044385.3(TMEM237):c.*4020T>A
|
rs886055435
|
|
NM_001044385.3(TMEM237):c.*62A>G
|
rs1957736360
|
|
NM_001044385.3(TMEM237):c.*663G>C
|
rs940503609
|
|
NM_001044385.3(TMEM237):c.*781G>A
|
rs1957729006
|
|
NM_001044385.3(TMEM237):c.*895C>G
|
rs1957727656
|
|
NM_001044385.3(TMEM237):c.*940A>C
|
rs1957727275
|
|
NM_001044385.3(TMEM237):c.-67T>G
|
rs886055450
|
|
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys)
|
rs886055447
|
|
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
|
rs1687306098
|
|
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
|
rs1957812548
|
|
NM_001077446.4(TSEN34):c.*1078del
|
rs886054630
|
|
NM_001077446.4(TSEN34):c.*199A>T
|
rs527437622
|
|
NM_001077446.4(TSEN34):c.*276G>C
|
rs1281858067
|
|
NM_001077446.4(TSEN34):c.*384G>C
|
rs1052800195
|
|
NM_001077446.4(TSEN34):c.*842T>G
|
rs569859820
|
|
NM_001077446.4(TSEN34):c.*849AT[3]
|
rs746578183
|
|
NM_001077446.4(TSEN34):c.*863G>A
|
rs920714892
|
|
NM_001077446.4(TSEN34):c.183C>A (p.Ala61=)
|
rs886054624
|
|
NM_001077446.4(TSEN34):c.289C>T (p.Gln97Ter)
|
rs1568849876
|
|
NM_001077446.4(TSEN34):c.294C>T (p.Ser98=)
|
rs770587931
|
|
NM_001077446.4(TSEN34):c.687G>A (p.Glu229=)
|
rs886054625
|
|
NM_001077446.4(TSEN34):c.73C>T (p.Arg25Cys)
|
rs1307925755
|
|
NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys)
|
rs770199288
|
|
NM_001077446.4(TSEN34):c.96G>T (p.Thr32=)
|
rs931778585
|
|
NM_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)
|
rs886054753
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)
|
rs977347524
|
|
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)
|
rs1408606648
|
|
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)
|
rs886054756
|
|
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)
|
rs886054755
|
|
NM_001128178.3(NPHP1):c.771+148G>T
|
rs753796140
|
|
NM_001128178.3(NPHP1):c.771+178C>T
|
rs767903893
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)
|
rs886054754
|
|
NM_001134831.2(AHI1):c.*110G>A
|
rs370861733
|
|
NM_001134831.2(AHI1):c.*1317A>G
|
rs886061102
|
|
NM_001134831.2(AHI1):c.*1568A>T
|
rs969919726
|
|
NM_001134831.2(AHI1):c.*216G>A
|
rs1781565852
|
|
NM_001134831.2(AHI1):c.*246T>C
|
rs1781561968
|
|
NM_001134831.2(AHI1):c.*484G>A
|
rs1045439496
|
|
NM_001134831.2(AHI1):c.*981C>T
|
rs376956056
|
|
NM_001134831.2(AHI1):c.-332C>G
|
rs944668049
|
|
NM_001134831.2(AHI1):c.-53A>G
|
rs1461027288
|
|
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.108del (p.Lys36fs)
|
rs1562294047
|
|
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)
|
rs545841352
|
|
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)
|
rs886061112
|
|
NM_001134831.2(AHI1):c.1627-6A>G
|
rs886061111
|
|
NM_001134831.2(AHI1):c.1780-3T>C
|
rs1786509189
|
|
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu)
|
rs371531507
|
|
NM_001134831.2(AHI1):c.1912+15T>G
|
rs1786478454
|
|
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
|
rs1785751637
|
|
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg)
|
rs886061110
|
|
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys)
|
rs958113326
|
|
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=)
|
rs1583193331
|
|
NM_001134831.2(AHI1):c.2763T>C (p.His921=)
|
rs886061109
|
|
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys)
|
rs755780260
|
|
NM_001134831.2(AHI1):c.3109+14T>A
|
rs1778988078
|
|
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
|
rs750115460
|
|
NM_001134831.2(AHI1):c.3486-4A>G
|
rs534053819
|
|
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
|
rs766052712
|
|
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)
|
rs531024131
|
|
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)
|
rs747322175
|
|
NM_001173990.2(TMEM216):c.-128A>C
|
rs886048411
|
|
NM_001173990.2(TMEM216):c.-285A>G
|
rs139151563
|
|
NM_001173990.3(TMEM216):c.*190A>G
|
rs1858851501
|
|
NM_001173990.3(TMEM216):c.*247C>T
|
rs886048413
|
|
NM_001173990.3(TMEM216):c.*393C>T
|
rs1858858010
|
|
NM_001173990.3(TMEM216):c.*548T>A
|
rs1858863107
|
|
NM_001173990.3(TMEM216):c.-24C>T
|
rs59493015
|
|
NM_001363.5(DKC1):c.691G>A (p.Val231Met)
|
|
|
NM_001378615.1(CC2D2A):c.-178T>C
|
rs886059135
|
|
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)
|
rs886059136
|
|
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile)
|
rs886059137
|
|
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=)
|
rs886059138
|
|
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)
|
rs201884883
|
|
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=)
|
rs550913315
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp)
|
rs749997192
|
|
NM_001378615.1(CC2D2A):c.2486+9T>C
|
rs768382177
|
|
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val)
|
rs376403848
|
|
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly)
|
rs574421639
|
|
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)
|
rs753770061
|
|
NM_001378615.1(CC2D2A):c.3398+13T>C
|
rs886059183
|
|
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn)
|
rs371998498
|
|
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu)
|
rs778519147
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala)
|
rs886059185
|
|
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu)
|
rs1485264498
|
|
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=)
|
rs1721486758
|
|
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu)
|
rs886059186
|
|
NM_002449.5(MSX2):c.*1161C>T
|
rs1760913049
|
|
NM_002449.5(MSX2):c.*289A>G
|
rs886060427
|
|
NM_002449.5(MSX2):c.*512G>T
|
rs1760894878
|
|
NM_002449.5(MSX2):c.*516A>G
|
rs1760894980
|
|
NM_002449.5(MSX2):c.*530A>G
|
rs886060429
|
|
NM_002449.5(MSX2):c.*601C>G
|
rs886060430
|
|
NM_002449.5(MSX2):c.*946T>G
|
rs886060432
|
|
NM_002449.5(MSX2):c.-50C>T
|
rs371076863
|
|
NM_002449.5(MSX2):c.122A>T (p.Lys41Met)
|
rs1760740243
|
|
NM_002449.5(MSX2):c.304G>A (p.Ala102Thr)
|
rs772051040
|
|
NM_003384.3(VRK1):c.*104A>G
|
rs1889251007
|
|
NM_003384.3(VRK1):c.*171C>A
|
rs1889253340
|
|
NM_003384.3(VRK1):c.*211A>G
|
rs886050949
|
|
NM_003384.3(VRK1):c.*338A>G
|
rs1889259011
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
NM_003384.3(VRK1):c.374+11G>A
|
rs937625087
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_015272.5(RPGRIP1L):c.*1035T>C
|
rs763384255
|
|
NM_015272.5(RPGRIP1L):c.*125G>T
|
rs868861934
|
|
NM_015272.5(RPGRIP1L):c.*133T>A
|
rs1963396187
|
|
NM_015272.5(RPGRIP1L):c.*159T>G
|
rs1963395143
|
|
NM_015272.5(RPGRIP1L):c.*1645A>T
|
rs144554139
|
|
NM_015272.5(RPGRIP1L):c.*626A>C
|
rs886052089
|
|
NM_015272.5(RPGRIP1L):c.*846A>T
|
rs1963365021
|
|
NM_015272.5(RPGRIP1L):c.*875A>G
|
rs886052088
|
|
NM_015272.5(RPGRIP1L):c.-16A>G
|
rs909461672
|
|
NM_015272.5(RPGRIP1L):c.-8G>T
|
rs1020579838
|
|
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys)
|
rs776941281
|
|
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=)
|
rs1967363312
|
|
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile)
|
rs886052097
|
|
NM_015272.5(RPGRIP1L):c.230+14G>A
|
rs1970739259
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr)
|
rs886052095
|
|
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val)
|
rs886052098
|
|
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)
|
rs574430009
|
|
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)
|
rs182207372
|
|
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His)
|
rs886052094
|
|
NM_015272.5(RPGRIP1L):c.3220+13T>C
|
rs376659273
|
|
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu)
|
rs886052092
|
|
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)
|
rs773361667
|
|
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)
|
rs376808910
|
|
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)
|
rs1195150584
|
|
NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)
|
|
|
NM_016042.4(EXOSC3):c.*242A>C
|
rs1828556271
|
|
NM_016042.4(EXOSC3):c.*354C>A
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*354C>G
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*419A>G
|
rs1828546518
|
|
NM_016042.4(EXOSC3):c.*582A>C
|
rs886063932
|
|
NM_016042.4(EXOSC3):c.*812T>G
|
rs886063931
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)
|
rs758230758
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)
|
rs140199968
|
|
NM_016464.5(TMEM138):c.*407G>C
|
rs886048410
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser)
|
rs1349854928
|
|
NM_016955.3(SEPSECS):c.-143_-139TTTTG[4]
|
rs779134137
|
|
NM_016955.3(SEPSECS):c.-147_-146dup
|
rs536637971
|
|
NM_016955.3(SEPSECS):c.-160C>T
|
rs111926440
|
|
NM_016955.4(SEPSECS):c.*1031G>A
|
rs559066856
|
|
NM_016955.4(SEPSECS):c.*1622T>C
|
rs886059347
|
|
NM_016955.4(SEPSECS):c.*1635G>A
|
rs886059346
|
|
NM_016955.4(SEPSECS):c.*2300A>G
|
rs184832870
|
|
NM_016955.4(SEPSECS):c.*2480T>G
|
rs966419399
|
|
NM_016955.4(SEPSECS):c.*254_*257del
|
rs577008196
|
|
NM_016955.4(SEPSECS):c.*2618C>A
|
rs1728115319
|
|
NM_016955.4(SEPSECS):c.*2708G>A
|
rs886059342
|
|
NM_016955.4(SEPSECS):c.*271G>A
|
rs544559197
|
|
NM_016955.4(SEPSECS):c.*2871T>C
|
rs1728102688
|
|
NM_016955.4(SEPSECS):c.*2916A>G
|
rs1728100643
|
|
NM_016955.4(SEPSECS):c.*3082A>G
|
rs886059341
|
|
NM_016955.4(SEPSECS):c.*3134C>A
|
rs886059340
|
|
NM_016955.4(SEPSECS):c.*3402AAT[1]
|
rs886059339
|
|
NM_016955.4(SEPSECS):c.*352A>G
|
rs1728221965
|
|
NM_016955.4(SEPSECS):c.*420G>C
|
rs886059352
|
|
NM_016955.4(SEPSECS):c.*470T>G
|
rs886059351
|
|
NM_016955.4(SEPSECS):c.*612G>T
|
rs886059350
|
|
NM_016955.4(SEPSECS):c.1120+8C>A
|
rs1728415390
|
|
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr)
|
rs527970470
|
|
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu)
|
rs751823145
|
|
NM_016955.4(SEPSECS):c.269+9_269+12del
|
rs748765764
|
|
NM_017651.4(AHI1):c.-277G>A
|
rs886061113
|
|
NM_017651.4(AHI1):c.-284G>A
|
rs886061114
|
|
NM_017651.4(AHI1):c.-286C>G
|
rs533416517
|
|
NM_018082.6(POLR3B):c.-39G>T
|
rs140312606
|
|
NM_018082.6(POLR3B):c.2301G>T (p.Gly767=)
|
rs2037875469
|
|
NM_018082.6(POLR3B):c.2449C>T (p.Pro817Ser)
|
rs886048899
|
|
NM_018082.6(POLR3B):c.2461G>A (p.Val821Ile)
|
rs1218609049
|
|
NM_018082.6(POLR3B):c.2669G>T (p.Arg890Leu)
|
rs750694928
|
|
NM_018082.6(POLR3B):c.2670T>A (p.Arg890=)
|
rs886048900
|
|
NM_018082.6(POLR3B):c.2823G>A (p.Gly941=)
|
rs757733299
|
|
NM_018082.6(POLR3B):c.2929G>C (p.Val977Leu)
|
rs199545845
|
|
NM_018082.6(POLR3B):c.3334C>G (p.Leu1112Val)
|
rs886048902
|
|
NM_018082.6(POLR3B):c.685A>T (p.Thr229Ser)
|
rs886048897
|
|
NM_018082.6(POLR3B):c.771A>T (p.Thr257=)
|
rs201822852
|
|
NM_018718.3(CEP41):c.*1191G>A
|
rs781848072
|
|
NM_018718.3(CEP41):c.*1768G>T
|
rs552499760
|
|
NM_018718.3(CEP41):c.*2194C>T
|
rs886061994
|
|
NM_018718.3(CEP41):c.*2196T>C
|
rs574519929
|
|
NM_018718.3(CEP41):c.*2386A>G
|
rs886061993
|
|
NM_018718.3(CEP41):c.*2725C>T
|
rs1796651983
|
|
NM_018718.3(CEP41):c.*287C>T
|
rs1796743356
|
|
NM_018718.3(CEP41):c.*3069T>C
|
rs886061990
|
|
NM_018718.3(CEP41):c.*3708A>T
|
rs576298616
|
|
NM_018718.3(CEP41):c.*4343C>G
|
rs1554413758
|
|
NM_018718.3(CEP41):c.*4365G>A
|
rs535299613
|
|
NM_018718.3(CEP41):c.*4539C>T
|
rs1796601439
|
|
NM_018718.3(CEP41):c.*4659C>G
|
rs886061986
|
|
NM_018718.3(CEP41):c.*4866C>T
|
rs782719539
|
|
NM_018718.3(CEP41):c.-41C>T
|
rs886062002
|
|
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter)
|
rs1562984087
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_020320.5(RARS2):c.1036-9C>T
|
rs886061822
|
|
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu)
|
rs760844669
|
|
NM_020320.5(RARS2):c.1511+3A>G
|
rs886061821
|
|
NM_020320.5(RARS2):c.818G>C (p.Arg273Pro)
|
rs139721632
|
|
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu)
|
rs139721632
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
NM_021926.4(ALX4):c.*1122G>A
|
rs1056695823
|
|
NM_021926.4(ALX4):c.*1346del
|
rs544187857
|
|
NM_021926.4(ALX4):c.*1444G>C
|
rs886048299
|
|
NM_021926.4(ALX4):c.*1470C>T
|
rs886048298
|
|
NM_021926.4(ALX4):c.*1590G>A
|
rs562110335
|
|
NM_021926.4(ALX4):c.*2181A>G
|
rs1590683863
|
|
NM_021926.4(ALX4):c.*2463T>C
|
rs192114163
|
|
NM_021926.4(ALX4):c.*2489C>T
|
rs886048292
|
|
NM_021926.4(ALX4):c.*2835A>T
|
rs886048290
|
|
NM_021926.4(ALX4):c.*2939C>A
|
rs1035301125
|
|
NM_021926.4(ALX4):c.*3033G>C
|
rs886048287
|
|
NM_021926.4(ALX4):c.*3405G>T
|
rs7115841
|
|
NM_021926.4(ALX4):c.*3506T>A
|
rs886048285
|
|
NM_021926.4(ALX4):c.*3553T>C
|
rs1294809456
|
|
NM_021926.4(ALX4):c.*3626T>G
|
rs1956180135
|
|
NM_021926.4(ALX4):c.*3988T>A
|
rs886048283
|
|
NM_021926.4(ALX4):c.*562C>G
|
rs1035739473
|
|
NM_021926.4(ALX4):c.*573C>T
|
rs554752826
|
|
NM_021926.4(ALX4):c.*855C>A
|
rs573850141
|
|
NM_021926.4(ALX4):c.*856G>A
|
rs951437284
|
|
NM_021926.4(ALX4):c.*859C>A
|
rs758619819
|
|
NM_021926.4(ALX4):c.*962C>T
|
rs552527026
|
|
NM_021926.4(ALX4):c.280C>T (p.Pro94Ser)
|
rs760627532
|
|
NM_021926.4(ALX4):c.347C>G (p.Pro116Arg)
|
rs772691401
|
|
NM_021926.4(ALX4):c.348G>T (p.Pro116=)
|
rs769501075
|
|
NM_021926.4(ALX4):c.569C>T (p.Pro190Leu)
|
rs143620051
|
|
NM_021926.4(ALX4):c.787C>T (p.Gln263Ter)
|
rs1564998718
|
|
NM_024075.4(TSEN34):c.-175C>A
|
rs886054622
|
|
NM_024075.5(TSEN34):c.-41G>A
|
rs886054623
|
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.1623+10G>A
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3574-9T>A
|
rs202038547
|
|
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
|
rs2036852568
|
|
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp)
|
rs886049880
|
|
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly)
|
rs886049879
|
|
NM_025114.4(CEP290):c.54G>A (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.54G>C (p.Leu18=)
|
rs886049885
|
|
NM_025114.4(CEP290):c.5587-8T>C
|
rs886049878
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025265.4(TSEN2):c.*106A>G
|
rs1276816567
|
|
NM_025265.4(TSEN2):c.*198A>G
|
rs551722010
|
|
NM_025265.4(TSEN2):c.*19C>T
|
rs1274814643
|
|
NM_025265.4(TSEN2):c.*448C>G
|
rs886057912
|
|
NM_025265.4(TSEN2):c.-130T>C
|
rs886057907
|
|
NM_025265.4(TSEN2):c.-219C>G
|
rs886057906
|
|
NM_025265.4(TSEN2):c.-293A>G
|
rs1486288895
|
|
NM_025265.4(TSEN2):c.-382A>C
|
rs886057904
|
|
NM_025265.4(TSEN2):c.-91A>C
|
rs866706372
|
|
NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu)
|
rs370820344
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
NM_025265.4(TSEN2):c.604A>T (p.Thr202Ser)
|
rs886057909
|
|
NM_025265.4(TSEN2):c.680C>T (p.Ala227Val)
|
rs886057910
|
|
NM_025265.4(TSEN2):c.704A>G (p.His235Arg)
|
rs769122669
|
|
NM_138959.3(VANGL1):c.*1042C>A
|
rs886045125
|
|
NM_138959.3(VANGL1):c.*1402C>G
|
rs1653892014
|
|
NM_138959.3(VANGL1):c.*1483C>T
|
rs886045127
|
|
NM_138959.3(VANGL1):c.*1492G>A
|
rs752428680
|
|
NM_138959.3(VANGL1):c.*1492G>T
|
rs752428680
|
|
NM_138959.3(VANGL1):c.*1516A>C
|
rs886045128
|
|
NM_138959.3(VANGL1):c.*1749G>A
|
rs3811010
|
|
NM_138959.3(VANGL1):c.*2116A>T
|
rs886045131
|
|
NM_138959.3(VANGL1):c.*229T>A
|
rs1460622785
|
|
NM_138959.3(VANGL1):c.*234A>G
|
rs1653840369
|
|
NM_138959.3(VANGL1):c.*2504A>G
|
rs1653939278
|
|
NM_138959.3(VANGL1):c.*2541G>A
|
rs886045133
|
|
NM_138959.3(VANGL1):c.*2542C>T
|
rs886045134
|
|
NM_138959.3(VANGL1):c.*2592T>C
|
rs1653943896
|
|
NM_138959.3(VANGL1):c.*2917G>A
|
rs900018260
|
|
NM_138959.3(VANGL1):c.*2961T>G
|
rs1653955779
|
|
NM_138959.3(VANGL1):c.*2992G>A
|
rs886045135
|
|
NM_138959.3(VANGL1):c.*301G>C
|
rs193075321
|
|
NM_138959.3(VANGL1):c.*3267C>T
|
rs1457146079
|
|
NM_138959.3(VANGL1):c.*3273A>G
|
rs551091101
|
|
NM_138959.3(VANGL1):c.*3666G>A
|
rs886045138
|
|
NM_138959.3(VANGL1):c.*3720T>C
|
rs886045139
|
|
NM_138959.3(VANGL1):c.*4041T>C
|
rs755509900
|
|
NM_138959.3(VANGL1):c.*4209A>G
|
rs1028169993
|
|
NM_138959.3(VANGL1):c.*4676C>G
|
rs886045143
|
|
NM_138959.3(VANGL1):c.*4731C>T
|
rs144489409
|
|
NM_138959.3(VANGL1):c.*483A>G
|
rs886045122
|
|
NM_138959.3(VANGL1):c.*4840T>C
|
rs886045144
|
|
NM_138959.3(VANGL1):c.*5022T>G
|
rs886045145
|
|
NM_138959.3(VANGL1):c.*5267G>T
|
rs75064936
|
|
NM_138959.3(VANGL1):c.*5413A>C
|
rs886045146
|
|
NM_138959.3(VANGL1):c.*5441TC[3]
|
rs886045147
|
|
NM_138959.3(VANGL1):c.*5639_*5640del
|
rs886045148
|
|
NM_138959.3(VANGL1):c.*5929G>A
|
rs886045149
|
|
NM_138959.3(VANGL1):c.*6084C>G
|
rs536289395
|
|
NM_138959.3(VANGL1):c.*634T>C
|
rs546423374
|
|
NM_138959.3(VANGL1):c.*6602C>T
|
rs886045153
|
|
NM_138959.3(VANGL1):c.*6687A>G
|
rs1654092548
|
|
NM_138959.3(VANGL1):c.*89TTC[2]
|
rs746915495
|
|
NM_138959.3(VANGL1):c.-171C>A
|
rs886045117
|
|
NM_138959.3(VANGL1):c.-247CGG[6]
|
rs886045116
|
|
NM_138959.3(VANGL1):c.-24C>T
|
rs886045118
|
|
NM_138959.3(VANGL1):c.1201A>C (p.Met401Leu)
|
rs1198149468
|
|
NM_138959.3(VANGL1):c.316G>A (p.Asp106Asn)
|
rs867892644
|
|
NM_138959.3(VANGL1):c.453G>A (p.Gly151=)
|
rs759094384
|
|
NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro)
|
rs561312836
|
|
NM_138959.3(VANGL1):c.867C>A (p.Ile289=)
|
rs868487713
|
|
NM_153240.5(NPHP3):c.*1078T>G
|
rs886057996
|
|
NM_153240.5(NPHP3):c.*1094A>G
|
rs1939005375
|
|
NM_153240.5(NPHP3):c.*1184A>T
|
rs1939002888
|
|
NM_153240.5(NPHP3):c.*178T>G
|
rs1939035707
|
|
NM_153240.5(NPHP3):c.*626C>G
|
rs1156702698
|
|
NM_153240.5(NPHP3):c.1118+11A>C
|
rs751629184
|
|
NM_153240.5(NPHP3):c.1524+11G>T
|
rs1939687605
|
|
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu)
|
rs576089202
|
|
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)
|
rs373627362
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly)
|
rs886058005
|
|
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)
|
rs751790371
|
|
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe)
|
rs886058002
|
|
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe)
|
rs141144099
|
|
NM_153240.5(NPHP3):c.670+13C>T
|
rs202228115
|
|
NM_178161.3(PTF1A):c.*272G>A
|
rs1840935977
|
|
NM_178161.3(PTF1A):c.*316T>C
|
rs1840936579
|
|
NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser)
|
rs1192341489
|
|
NM_178161.3(PTF1A):c.201C>T (p.Cys67=)
|
rs539214102
|
|
NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu)
|
rs1840910398
|
|
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val)
|
rs146089816
|
|
NM_207346.3(TSEN54):c.*224G>T
|
rs2053484029
|
|
NM_207346.3(TSEN54):c.1043T>A (p.Leu348His)
|
rs886053397
|
|
NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys)
|
rs398124621
|
|
NM_207346.3(TSEN54):c.1163G>C (p.Arg388Pro)
|
rs796181199
|
|
NM_207346.3(TSEN54):c.1209G>C (p.Gln403His)
|
rs886053398
|
|
NM_207346.3(TSEN54):c.1252+6C>G
|
rs977124000
|
|
NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu)
|
rs767683456
|
|
NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser)
|
rs886053394
|
|
NM_207346.3(TSEN54):c.1418T>A (p.Met473Lys)
|
rs2053460545
|
|
NM_207346.3(TSEN54):c.1530C>A (p.Ile510=)
|
rs754461779
|
|
NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln)
|
rs1377971286
|
|
NM_207346.3(TSEN54):c.285+9C>G
|
rs200318170
|
|
NM_207346.3(TSEN54):c.286-8C>T
|
rs886053395
|
|
NM_207346.3(TSEN54):c.521+9C>G
|
rs753458014
|
|
NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg)
|
rs376310114
|
|
NM_207346.3(TSEN54):c.663G>A (p.Leu221=)
|
rs886053396
|
|
NM_207346.3(TSEN54):c.894C>G (p.Phe298Leu)
|
rs564262300
|
|