NM_001384732.1(CPLANE1):c.81+20=
|
rs6876576
|
0.99994
|
NM_014846.4(WASHC5):c.2770+18_2770+19insG
|
rs11370883
|
0.99994
|
NM_004958.4(MTOR):c.6034-30A>G
|
rs1770344
|
0.99413
|
NM_021926.4(ALX4):c.621A>G (p.Ser207=)
|
rs10769028
|
0.99242
|
NM_021926.4(ALX4):c.*2110A>G
|
rs7105993
|
0.99108
|
NM_001759.4(CCND2):c.-49T>C
|
rs3217786
|
0.97216
|
NM_001128159.3(VPS53):c.1117-26T>C
|
rs4968055
|
0.96284
|
NM_021926.4(ALX4):c.467-45T>C
|
rs11037929
|
0.95917
|
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro)
|
rs1011320
|
0.95640
|
NM_001378615.1(CC2D2A):c.4065+28A>T
|
rs6832789
|
0.95451
|
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg)
|
rs2241088
|
0.93443
|
NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=)
|
rs1044006
|
0.90693
|
NM_000435.3(NOTCH3):c.5913+28T>G
|
rs4809029
|
0.90682
|
NM_000435.3(NOTCH3):c.5362+3T>C
|
rs1548555
|
0.90675
|
NM_000435.3(NOTCH3):c.5816-8T>C
|
rs4809030
|
0.90632
|
NM_000435.3(NOTCH3):c.5815+36G>A
|
rs2074618
|
0.90515
|
NM_000435.3(NOTCH3):c.5363-21G>A
|
rs10416777
|
0.90510
|
NM_000435.3(NOTCH3):c.5363-17C>T
|
rs2074619
|
0.90508
|
NM_021926.4(ALX4):c.*3107A>G
|
rs4755239
|
0.90297
|
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_000435.3(NOTCH3):c.1192+15A>G
|
rs10423702
|
0.87325
|
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=)
|
rs1043994
|
0.87319
|
NM_000435.3(NOTCH3):c.5913+55A>G
|
rs757472
|
0.86388
|
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=)
|
rs273269
|
0.85598
|
NM_001378615.1(CC2D2A):c.247+26A>G
|
rs10000250
|
0.85216
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_005559.4(LAMA1):c.5380-13G>A
|
rs617573
|
0.82747
|
NM_005559.4(LAMA1):c.5496+20A>G
|
rs616722
|
0.82650
|
NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_021926.4(ALX4):c.*547A>G
|
rs4755796
|
0.81277
|
NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_001077446.4(TSEN34):c.795= (p.Pro265=)
|
rs7595
|
0.80164
|
NM_001077446.4(TSEN34):c.*497=
|
rs36621
|
0.80151
|
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=)
|
rs6665951
|
0.79936
|
NM_021926.4(ALX4):c.778-117T>C
|
rs10742699
|
0.79676
|
NM_002449.5(MSX2):c.*1176G>C
|
rs2890849
|
0.79238
|
NM_002449.5(MSX2):c.386T>C (p.Met129Thr)
|
rs4242182
|
0.78320
|
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=)
|
rs1043997
|
0.76937
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
NM_000435.3(NOTCH3):c.2792+21G>A
|
rs11669982
|
0.76928
|
NM_002449.5(MSX2):c.*1125A>G
|
rs14459
|
0.76842
|
NM_002449.5(MSX2):c.*510A>G
|
rs2381939
|
0.76399
|
NM_002449.5(MSX2):c.*1146T>C
|
rs2890848
|
0.75720
|
NM_001378615.1(CC2D2A):c.1764+45T>G
|
rs1558572
|
0.75139
|
NM_000368.5(TSC1):c.*1275T>G
|
rs2809244
|
0.74384
|
NM_001368809.2(AMPD2):c.860+19A>G
|
rs524998
|
0.73896
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
NM_001173990.3(TMEM216):c.*558G>A
|
rs7607
|
0.73129
|
NM_033026.6(PCLO):c.2441G>C (p.Ser814Thr)
|
rs2877
|
0.70660
|
NM_001368809.2(AMPD2):c.1272T>C (p.His424=)
|
rs863978
|
0.70414
|
NM_021926.4(ALX4):c.*2682C>T
|
rs897005
|
0.69471
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)
|
rs1044009
|
0.69087
|
NM_001378615.1(CC2D2A):c.3595-55C>G
|
rs4280723
|
0.69017
|
NM_001378615.1(CC2D2A):c.3288+41A>C
|
rs13116304
|
0.68417
|
NM_000368.5(TSC1):c.*3679G>A
|
rs1050700
|
0.68068
|
NM_005559.4(LAMA1):c.6004A>G (p.Lys2002Glu)
|
rs607230
|
0.68054
|
NM_138959.3(VANGL1):c.*505A>G
|
rs6700610
|
0.67885
|
NM_021926.4(ALX4):c.*517C>T
|
rs4755797
|
0.67187
|
NM_001044385.3(TMEM237):c.274+23A>G
|
rs1208081
|
0.64988
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
NM_000435.3(NOTCH3):c.3461-32C>T
|
rs56061231
|
0.63976
|
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
|
rs8064529
|
0.63819
|
NM_033026.6(PCLO):c.1893+47C>A
|
rs6951239
|
0.63627
|
NM_004958.4(MTOR):c.2997C>T (p.Asn999=)
|
rs1064261
|
0.63488
|
NM_001128159.3(VPS53):c.2328+15A>G
|
rs2034088
|
0.63097
|
NM_006416.5(SLC35A1):c.*302A>G
|
rs1051131
|
0.61356
|
NM_020320.5(RARS2):c.1512-43T>C
|
rs9450723
|
0.61345
|
NM_006416.5(SLC35A1):c.*648T>G
|
rs1051148
|
0.61316
|
NM_020320.5(RARS2):c.452-21A>G
|
rs4707374
|
0.61261
|
NM_005559.4(LAMA1):c.2763T>C (p.Cys921=)
|
rs539713
|
0.61217
|
NM_016111.4(TELO2):c.682+115C>T
|
rs2235630
|
0.61186
|
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)
|
rs6979
|
0.60624
|
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)
|
rs7216673
|
0.60248
|
NM_000435.3(NOTCH3):c.4892-22G>T
|
rs2074620
|
0.59905
|
NM_004958.4(MTOR):c.1437T>C (p.Asp479=)
|
rs1135172
|
0.59749
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_002449.5(MSX2):c.380-164G>A
|
rs4867776
|
0.58905
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_020335.3(VANGL2):c.1137A>G (p.Lys379=)
|
rs12086448
|
0.58424
|
NM_021926.4(ALX4):c.778-140G>C
|
rs10769024
|
0.57195
|
NM_001378615.1(CC2D2A):c.*21G>C
|
rs1134634
|
0.57021
|
NM_000435.3(NOTCH3):c.3837+21T>A
|
rs11670823
|
0.56639
|
NM_025265.4(TSEN2):c.-209G>T
|
rs709161
|
0.56522
|
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)
|
rs1043996
|
0.56438
|
NM_004958.4(MTOR):c.4731G>A (p.Ala1577=)
|
rs1057079
|
0.55171
|
NM_000368.5(TSC1):c.*1322C>T
|
rs2809243
|
0.54889
|
NM_018718.3(CEP41):c.*5102G>A
|
rs1990790
|
0.54035
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_017777.4(MKS1):c.750-105T>C
|
rs3744105
|
0.53777
|
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=)
|
rs7543730
|
0.53314
|
NM_001378615.1(CC2D2A):c.1765-24A>G
|
rs1861044
|
0.52969
|
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)
|
rs7918487
|
0.51842
|
NM_001128159.3(VPS53):c.1557-30T>C
|
rs741677
|
0.51785
|
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)
|
rs2235624
|
0.51194
|
NM_001199198.3(TBC1D23):c.876+27G>T
|
rs3772698
|
0.50657
|
NM_014008.5(CCDC22):c.1540-18T>C
|
rs2294021
|
0.50585
|
NM_025265.4(TSEN2):c.*292G>T
|
rs299643
|
0.50169
|
NM_025233.7(COASY):c.164C>A (p.Ser55Tyr)
|
rs615942
|
0.49854
|
NM_025233.7(COASY):c.972A>G (p.Thr324=)
|
rs598126
|
0.49440
|
NM_005559.4(LAMA1):c.3378T>C (p.Gly1126=)
|
rs9946794
|
0.48883
|
NM_005559.4(LAMA1):c.2493T>C (p.Cys831=)
|
rs684634
|
0.48817
|
NM_005559.4(LAMA1):c.5391G>A (p.Leu1797=)
|
rs617206
|
0.48492
|
NM_005559.4(LAMA1):c.5496+19C>T
|
rs523711
|
0.48483
|
NM_001128159.3(VPS53):c.1218+817A>G
|
rs11247553
|
0.48461
|
NM_005559.4(LAMA1):c.2109C>T (p.Ala703=)
|
rs621993
|
0.46872
|
NM_005559.4(LAMA1):c.2051+14A>T
|
rs674733
|
0.46819
|
NM_033026.6(PCLO):c.14415+10T>C
|
rs2715150
|
0.44882
|
NM_001128159.3(VPS53):c.-90C>T
|
rs2474694
|
0.44823
|
NM_000368.5(TSC1):c.*1488C>T
|
rs739442
|
0.43524
|
NM_021926.4(ALX4):c.104G>C (p.Arg35Thr)
|
rs3824915
|
0.42227
|
NM_016111.4(TELO2):c.2226+38A>G
|
rs11248882
|
0.42009
|
NM_138959.3(VANGL1):c.*4478C>T
|
rs17034226
|
0.41876
|
NM_138959.3(VANGL1):c.*2351T>G
|
rs12121158
|
0.41872
|
NM_018027.5(FRMD4A):c.207-16T>C
|
rs3740121
|
0.41756
|
NM_138959.3(VANGL1):c.*5751A>G
|
rs10801933
|
0.41406
|
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)
|
rs2248128
|
0.41062
|
NM_001128159.3(VPS53):c.1867-81C>T
|
rs7219151
|
0.40515
|
NM_138959.3(VANGL1):c.*5368G>A
|
rs10494179
|
0.39762
|
NM_138959.3(VANGL1):c.*5995A>T
|
rs4595366
|
0.39755
|
NM_138959.3(VANGL1):c.*5841A>T
|
rs4548441
|
0.39752
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
NM_005559.4(LAMA1):c.3573C>T (p.Thr1191=)
|
rs619106
|
0.39038
|
NM_018718.3(CEP41):c.-5A>C
|
rs2287371
|
0.39010
|
NM_001128159.3(VPS53):c.218+102C>G
|
rs2543781
|
0.38294
|
NM_016955.4(SEPSECS):c.*807A>G
|
rs13109061
|
0.38145
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_033026.6(PCLO):c.1501T>C (p.Ser501Pro)
|
rs6972461
|
0.37994
|
NM_015272.5(RPGRIP1L):c.*737T>G
|
rs3760008
|
0.37956
|
NM_015272.5(RPGRIP1L):c.*55T>A
|
rs4784319
|
0.37955
|
NM_015272.5(RPGRIP1L):c.*1693G>A
|
rs1946155
|
0.37946
|
NM_016111.4(TELO2):c.2415T>C (p.Ala805=)
|
rs3180228
|
0.37206
|
NM_018718.3(CEP41):c.*4295G>C
|
rs4728195
|
0.36596
|
NM_001497.4(B4GALT1):c.648+102C>T
|
rs913214
|
0.35792
|
NM_015631.6(TCTN3):c.603T>A (p.Thr201=)
|
rs10786229
|
0.35079
|
NM_017777.4(MKS1):c.261+67A>G
|
rs7225148
|
0.34782
|
NM_003384.3(VRK1):c.217-244T>C
|
rs12586511
|
0.34167
|
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)
|
rs2075443
|
0.33961
|
NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala)
|
rs2522833
|
0.33644
|
NM_021926.4(ALX4):c.304C>T (p.Pro102Ser)
|
rs12421995
|
0.32933
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_020320.5(RARS2):c.451+140G>A
|
rs34513746
|
0.32228
|
NM_001759.4(CCND2):c.570C>G (p.Thr190=)
|
rs3217805
|
0.31575
|
NM_138959.3(VANGL1):c.*3496T>A
|
rs4839472
|
0.31126
|
NM_001135146.2(SLC39A8):c.552+48C>T
|
rs1462947
|
0.30373
|
NM_001128159.3(VPS53):c.1117-91C>G
|
rs7225041
|
0.30116
|
NM_021926.4(ALX4):c.1074C>T (p.His358=)
|
rs3802805
|
0.29957
|
NM_017651.4(AHI1):c.-293G>T
|
rs13197384
|
0.29491
|
NM_005559.4(LAMA1):c.6227T>C (p.Ile2076Thr)
|
rs671871
|
0.29406
|
NM_004958.4(MTOR):c.5553C>T (p.Ser1851=)
|
rs2275527
|
0.29172
|
NM_004958.4(MTOR):c.6909G>A (p.Leu2303=)
|
rs11121691
|
0.28827
|
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala)
|
rs12120084
|
0.28388
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_001134831.2(AHI1):c.*218C>T
|
rs1052502
|
0.27386
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_015631.6(TCTN3):c.1204-43T>C
|
rs17461546
|
0.27142
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
NM_000368.5(TSC1):c.*1372T>G
|
rs58612431
|
0.26140
|
NM_021926.4(ALX4):c.*2479T>C
|
rs897004
|
0.26076
|
NM_005559.4(LAMA1):c.3126+7A>G
|
rs603258
|
0.25992
|
NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=)
|
rs2016639
|
0.25393
|
NM_138959.3(VANGL1):c.*416G>A
|
rs3811011
|
0.25321
|
NM_138959.3(VANGL1):c.*1277C>T
|
rs3204955
|
0.25318
|
NM_138959.3(VANGL1):c.*3023G>T
|
rs10923204
|
0.24904
|
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=)
|
rs13561
|
0.24486
|
NM_018082.6(POLR3B):c.*347A>G
|
rs2288266
|
0.24463
|
NM_020320.5(RARS2):c.111-21C>T
|
rs9450740
|
0.24263
|
NM_138959.3(VANGL1):c.*6026G>A
|
rs6428677
|
0.24227
|
NM_021926.4(ALX4):c.*2832A>C
|
rs1840254
|
0.24185
|
NM_018718.3(CEP41):c.*4037A>G
|
rs7793239
|
0.23508
|
NM_021926.4(ALX4):c.*3166C>T
|
rs7116335
|
0.23498
|
NM_021926.4(ALX4):c.*228C>T
|
rs4755798
|
0.23484
|
NM_138959.3(VANGL1):c.*6199A>T
|
rs3811007
|
0.22923
|
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=)
|
rs10861607
|
0.22605
|
NM_016111.4(TELO2):c.2227-39C>T
|
rs3736721
|
0.22446
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala)
|
rs12961939
|
0.21927
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
NM_015631.6(TCTN3):c.1453-28A>G
|
rs12784530
|
0.21461
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr)
|
rs566655
|
0.20323
|
NM_015272.5(RPGRIP1L):c.3432+67G>A
|
rs113961478
|
0.19784
|
NM_001128159.3(VPS53):c.219-11T>C
|
rs4968100
|
0.19527
|
NM_207346.3(TSEN54):c.114T>G (p.His38Gln)
|
rs8079373
|
0.19277
|
NM_207346.3(TSEN54):c.285+3G>A
|
rs8074291
|
0.19227
|
NM_207346.3(TSEN54):c.333C>G (p.Arg111=)
|
rs6501818
|
0.19222
|
NM_033026.6(PCLO):c.860A>G (p.Asp287Gly)
|
rs61741659
|
0.18909
|
NM_015631.6(TCTN3):c.500-11A>T
|
rs11188434
|
0.18618
|
NM_018718.3(CEP41):c.*2041G>A
|
rs73152868
|
0.18522
|
NM_014846.4(WASHC5):c.979-20C>T
|
rs12546285
|
0.18463
|
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=)
|
rs3815188
|
0.18114
|
NM_018718.3(CEP41):c.*1859G>T
|
rs73152869
|
0.17105
|
NM_138959.3(VANGL1):c.*83T>A
|
rs3811013
|
0.17099
|
NM_001128159.3(VPS53):c.81C>T (p.Ile27=)
|
rs11558129
|
0.16882
|
NM_138959.3(VANGL1):c.*6212C>T
|
rs3811006
|
0.16816
|
NM_138959.3(VANGL1):c.*4504C>T
|
rs17034228
|
0.16812
|
NM_138959.3(VANGL1):c.*5266C>T
|
rs17034230
|
0.16811
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_005559.4(LAMA1):c.4026T>G (p.Val1342=)
|
rs73938538
|
0.15758
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_018718.3(CEP41):c.*1931C>T
|
rs17133175
|
0.15684
|
NM_022836.4(DCLRE1B):c.234T>C (p.His78=)
|
rs3761936
|
0.15394
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_001128159.3(VPS53):c.1867-71T>C
|
rs12951098
|
0.15268
|
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)
|
rs11542889
|
0.14383
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_000368.5(TSC1):c.*1934A>G
|
rs10491534
|
0.14325
|
NM_005559.4(LAMA1):c.5288C>T (p.Ala1763Val)
|
rs12607841
|
0.13777
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=)
|
rs6794496
|
0.13621
|
NM_014846.4(WASHC5):c.187-3C>T
|
rs16900368
|
0.13363
|
NM_014846.4(WASHC5):c.417+11A>G
|
rs2384917
|
0.13320
|
NM_001082486.2(ACD):c.1298+20C>A
|
rs67114979
|
0.13128
|
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)
|
rs28362581
|
0.13084
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr)
|
rs4839469
|
0.12684
|
NM_005559.4(LAMA1):c.6345+7T>C
|
rs10164200
|
0.12418
|
NM_001082486.2(ACD):c.413+3A>G
|
rs8058187
|
0.12302
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_000368.5(TSC1):c.*4437G>A
|
rs11553763
|
0.11942
|
NM_018718.3(CEP41):c.*3887C>G
|
rs62471754
|
0.11370
|
NM_014846.4(WASHC5):c.1764+12A>G
|
rs3765213
|
0.11313
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_138959.3(VANGL1):c.-224C>A
|
rs191609592
|
0.10807
|
NM_138959.3(VANGL1):c.*6721A>G
|
rs17034249
|
0.10611
|
NM_138959.3(VANGL1):c.*2581G>A
|
rs3811008
|
0.10587
|
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)
|
rs2230461
|
0.10578
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.10508
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_021926.4(ALX4):c.729G>A (p.Ala243=)
|
rs11037928
|
0.10227
|
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro)
|
rs11553577
|
0.10199
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro)
|
rs77247739
|
0.09564
|
NM_021926.4(ALX4):c.879C>T (p.Leu293=)
|
rs12419361
|
0.09492
|
NM_001368809.2(AMPD2):c.91+180C>G
|
rs186745159
|
0.09427
|
NM_001368809.2(AMPD2):c.-263+18T>C
|
rs28362580
|
0.09386
|
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)
|
rs17850652
|
0.09110
|
NM_021926.4(ALX4):c.*1896A>G
|
rs55959427
|
0.08833
|
NM_178161.3(PTF1A):c.*15G>A
|
rs10828415
|
0.08608
|
NM_003384.3(VRK1):c.1159+43C>G
|
rs45457797
|
0.08564
|
NM_021926.4(ALX4):c.*1699G>T
|
rs7942612
|
0.08488
|
NM_021926.4(ALX4):c.778-11G>A
|
rs75147697
|
0.08417
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
NM_001128159.3(VPS53):c.1117-3C>T
|
rs56807006
|
0.08020
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)
|
rs2302566
|
0.07763
|
NM_020320.5(RARS2):c.111-19T>G
|
rs6900057
|
0.07559
|
NM_021926.4(ALX4):c.*973G>A
|
rs117526668
|
0.07512
|
NM_025265.4(TSEN2):c.377G>A (p.Arg126His)
|
rs33955793
|
0.07115
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
NM_025265.4(TSEN2):c.162G>A (p.Ala54=)
|
rs78685815
|
0.06643
|
NM_020320.5(RARS2):c.974+90T>C
|
rs2273131
|
0.06641
|
NM_020320.5(RARS2):c.975-43G>A
|
rs3757371
|
0.06627
|
NM_020320.5(RARS2):c.1305+18C>T
|
rs3734908
|
0.06626
|
NM_005027.4(PIK3R2):c.700= (p.Ser234=)
|
rs2241088
|
0.06557
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
NM_138959.3(VANGL1):c.*3417C>T
|
rs76160883
|
0.06248
|
NM_138959.3(VANGL1):c.*2489C>T
|
rs41299571
|
0.06245
|
NM_138959.3(VANGL1):c.*6321T>G
|
rs77318780
|
0.06169
|
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg)
|
rs11870627
|
0.05898
|
NM_001497.4(B4GALT1):c.597C>T (p.His199=)
|
rs1065765
|
0.05834
|
NM_138959.3(VANGL1):c.*300C>T
|
rs41310108
|
0.05806
|
NM_138959.3(VANGL1):c.*217C>T
|
rs41299565
|
0.05793
|
NM_138959.3(VANGL1):c.*694C>A
|
rs41312690
|
0.05722
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
|
rs62088470
|
0.04801
|
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala)
|
rs17038460
|
0.04732
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=)
|
rs112813367
|
0.04637
|
NM_016955.4(SEPSECS):c.1211+7A>G
|
rs17408685
|
0.04557
|
NM_005027.4(PIK3R2):c.937= (p.Ser313=)
|
rs1011320
|
0.04360
|
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=)
|
rs16839515
|
0.04323
|
NM_001378615.1(CC2D2A):c.777C>T (p.His259=)
|
rs2286976
|
0.04284
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
NM_020320.5(RARS2):c.1237+38G>A
|
rs13203056
|
0.04243
|
NM_207346.3(TSEN54):c.568G>A (p.Val190Met)
|
rs79508780
|
0.04141
|
NM_000368.5(TSC1):c.*2651G>T
|
rs55660990
|
0.04112
|
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr)
|
rs149081991
|
0.03942
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=)
|
rs28730848
|
0.03689
|
NM_000368.5(TSC1):c.*913C>T
|
rs117425923
|
0.03547
|
NM_001082486.2(ACD):c.1371G>T (p.Pro457=)
|
rs14920
|
0.03535
|
NM_001134831.2(AHI1):c.-299G>A
|
rs113052089
|
0.03529
|
NM_002449.5(MSX2):c.*658C>T
|
rs10044147
|
0.03436
|
NM_014846.4(WASHC5):c.186+17G>A
|
rs59134934
|
0.03280
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_153240.5(NPHP3):c.*657C>T
|
rs79224795
|
0.03141
|
NM_002449.5(MSX2):c.-17C>G
|
rs4647952
|
0.03140
|
NM_020320.5(RARS2):c.703G>A (p.Val235Met)
|
rs35862137
|
0.03019
|
NC_000016.10:g.67660703A>G
|
rs72547496
|
0.03001
|
NM_001077446.4(TSEN34):c.*928A>G
|
rs144441443
|
0.02975
|
NM_001077446.4(TSEN34):c.*1128G>T
|
rs79447697
|
0.02881
|
NM_014846.4(WASHC5):c.1408+7A>G
|
rs16900312
|
0.02845
|
NM_014846.4(WASHC5):c.1151-8G>A
|
rs16900335
|
0.02839
|
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)
|
rs10429323
|
0.02837
|
NM_138959.3(VANGL1):c.*2043C>T
|
rs74117021
|
0.02749
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_002449.5(MSX2):c.*416A>C
|
rs10038500
|
0.02725
|
NM_000368.5(TSC1):c.*1487C>T
|
rs79277527
|
0.02671
|
NM_002449.5(MSX2):c.*349T>C
|
rs114567531
|
0.02667
|
NM_000368.5(TSC1):c.*682C>T
|
rs75252898
|
0.02584
|
NM_000368.5(TSC1):c.*2558A>G
|
rs115516164
|
0.02571
|
NM_000368.5(TSC1):c.*376C>T
|
rs114064768
|
0.02541
|
NM_021926.4(ALX4):c.*1447G>A
|
rs11037920
|
0.02530
|
NM_021926.4(ALX4):c.594C>A (p.Leu198=)
|
rs61737295
|
0.02470
|
NM_021926.4(ALX4):c.*2226G>A
|
rs78607024
|
0.02447
|
NM_001368809.2(AMPD2):c.1984-19C>T
|
rs75276578
|
0.02404
|
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=)
|
rs2273761
|
0.02399
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_014846.4(WASHC5):c.597A>G (p.Pro199=)
|
rs7812319
|
0.02380
|
NM_000368.5(TSC1):c.*107T>C
|
rs116917669
|
0.02353
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_001077446.4(TSEN34):c.*29G>A
|
rs2289145
|
0.02347
|
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=)
|
rs11879943
|
0.02345
|
NM_020320.5(RARS2):c.991A>G (p.Ile331Val)
|
rs3757370
|
0.02330
|
NM_025265.4(TSEN2):c.639T>C (p.Asp213=)
|
rs3796329
|
0.02309
|
NM_025265.4(TSEN2):c.327G>A (p.Glu109=)
|
rs77899976
|
0.02296
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
NM_001173990.3(TMEM216):c.*444T>C
|
rs116047887
|
0.02253
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_018082.6(POLR3B):c.-95C>T
|
rs17219334
|
0.02211
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_018718.3(CEP41):c.*927T>C
|
rs73152870
|
0.02074
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=)
|
rs115435816
|
0.01890
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
NM_000368.4(TSC1):c.*4898G>A
|
rs79220715
|
0.01804
|
NM_016955.4(SEPSECS):c.*2966A>G
|
rs115116065
|
0.01758
|
NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala)
|
rs34059106
|
0.01695
|
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro)
|
rs6940875
|
0.01691
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_000368.5(TSC1):c.*1468C>T
|
rs72759433
|
0.01681
|
NM_025265.4(TSEN2):c.963G>A (p.Glu321=)
|
rs17036879
|
0.01671
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_021926.4(ALX4):c.*972C>T
|
rs151214135
|
0.01593
|
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)
|
rs10406745
|
0.01547
|
NM_207346.3(TSEN54):c.624-9G>A
|
rs138719855
|
0.01485
|
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)
|
rs34030799
|
0.01484
|
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn)
|
rs28381079
|
0.01483
|
NM_021926.4(ALX4):c.*3596C>G
|
rs11037919
|
0.01480
|
NM_016955.4(SEPSECS):c.*3848C>T
|
rs111294195
|
0.01439
|
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser)
|
rs55859130
|
0.01420
|
NM_000368.5(TSC1):c.*1785A>G
|
rs74362385
|
0.01398
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01390
|
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=)
|
rs116627250
|
0.01389
|
NM_016042.4(EXOSC3):c.*197C>T
|
rs117073203
|
0.01382
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp)
|
rs144662042
|
0.01362
|
NM_018718.3(CEP41):c.*3507C>T
|
rs149385617
|
0.01355
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
NM_001077446.4(TSEN34):c.*688T>A
|
rs115025822
|
0.01302
|
NM_018718.3(CEP41):c.*3765G>T
|
rs138768326
|
0.01276
|
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=)
|
rs116321373
|
0.01259
|
NM_021926.4(ALX4):c.*1901A>G
|
rs78007447
|
0.01238
|
NM_001044385.3(TMEM237):c.-12G>A
|
rs113186360
|
0.01229
|
NM_025265.4(TSEN2):c.-220G>A
|
rs182837891
|
0.01211
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_000368.5(TSC1):c.*2418G>A
|
rs114415181
|
0.01175
|
NM_016955.4(SEPSECS):c.*681A>C
|
rs76926200
|
0.01167
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_000368.5(TSC1):c.*4057G>A
|
rs17149898
|
0.01133
|
NM_021926.4(ALX4):c.*922T>G
|
rs185632337
|
0.01097
|
NM_021926.4(ALX4):c.*923C>T
|
rs181642223
|
0.01096
|
NM_020320.5(RARS2):c.606C>T (p.Leu202=)
|
rs75794097
|
0.01095
|
NM_021926.4(ALX4):c.*1227G>A
|
rs76501131
|
0.01081
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_025265.4(TSEN2):c.-199G>T
|
rs41293381
|
0.01068
|
NM_018718.3(CEP41):c.*3783T>C
|
rs117071818
|
0.01015
|
NM_000368.5(TSC1):c.*841C>T
|
rs149902841
|
0.01013
|
NM_016042.4(EXOSC3):c.*296T>C
|
rs138197600
|
0.01009
|
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys)
|
rs150169668
|
0.01002
|
NM_001077446.4(TSEN34):c.*815G>A
|
rs36620
|
0.00944
|
NM_016464.5(TMEM138):c.-24G>A
|
rs116455434
|
0.00930
|
NM_016955.4(SEPSECS):c.1120+12T>C
|
rs4697552
|
0.00916
|
NM_016042.4(EXOSC3):c.-12G>C
|
rs115431773
|
0.00907
|
NM_025265.4(TSEN2):c.108A>G (p.Glu36=)
|
rs77258715
|
0.00898
|
NM_018082.6(POLR3B):c.*565G>A
|
rs55715506
|
0.00886
|
NM_021926.4(ALX4):c.*902G>A
|
rs76229477
|
0.00875
|
NM_001044385.3(TMEM237):c.*1489G>C
|
rs78220061
|
0.00855
|
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=)
|
rs147625988
|
0.00840
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_021926.4(ALX4):c.*1713G>C
|
rs76845793
|
0.00799
|
NM_021926.4(ALX4):c.*156G>A
|
rs376658247
|
0.00776
|
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=)
|
rs201655779
|
0.00768
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_005027.4(PIK3R2):c.1736+12C>T
|
rs112411913
|
0.00759
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_001368809.2(AMPD2):c.223-4C>T
|
rs116223306
|
0.00736
|
NM_021926.4(ALX4):c.63C>T (p.Tyr21=)
|
rs61737298
|
0.00736
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
NM_021926.4(ALX4):c.918G>A (p.Pro306=)
|
rs145904583
|
0.00731
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_018082.6(POLR3B):c.-1C>T
|
rs117873765
|
0.00704
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)
|
rs115959591
|
0.00697
|
NM_005027.4(PIK3R2):c.415+18dup
|
rs200295171
|
0.00686
|
NM_021926.4(ALX4):c.*1345G>A
|
rs113781536
|
0.00680
|
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)
|
rs147189192
|
0.00679
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
NM_016955.4(SEPSECS):c.*3775A>G
|
rs115004931
|
0.00670
|
NM_021926.4(ALX4):c.*3012C>G
|
rs117877500
|
0.00663
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
NM_016955.4(SEPSECS):c.935-5T>G
|
rs2302564
|
0.00644
|
NM_021926.4(ALX4):c.*2507G>A
|
rs75369525
|
0.00635
|
NM_021926.4(ALX4):c.*1131T>C
|
rs10458913
|
0.00627
|
NM_016955.4(SEPSECS):c.*2123A>G
|
rs142960382
|
0.00625
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_018082.6(POLR3B):c.*582C>G
|
rs75217257
|
0.00616
|
NM_021926.4(ALX4):c.*266T>G
|
rs60998360
|
0.00609
|
NM_138959.3(VANGL1):c.*1627A>G
|
rs149888685
|
0.00606
|
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)
|
rs144632022
|
0.00602
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_018082.6(POLR3B):c.2877C>T (p.His959=)
|
rs148708579
|
0.00569
|
NM_002449.5(MSX2):c.*466G>A
|
rs148083483
|
0.00560
|
NM_016955.4(SEPSECS):c.*454C>T
|
rs77936887
|
0.00552
|
NM_001077446.4(TSEN34):c.*175T>C
|
rs77548142
|
0.00549
|
NM_001082486.1(ACD):c.162C>T (p.Pro54=)
|
rs73597595
|
0.00544
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_001082486.2(ACD):c.1207-10C>T
|
rs67185288
|
0.00536
|
NM_021926.4(ALX4):c.69G>C (p.Pro23=)
|
rs115968657
|
0.00532
|
NM_001082486.2(ACD):c.801C>T (p.Ala267=)
|
rs72549181
|
0.00530
|
NM_016955.4(SEPSECS):c.*2840T>C
|
rs144070806
|
0.00524
|
NM_000368.5(TSC1):c.*2872G>A
|
rs2106345
|
0.00508
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val)
|
rs17849378
|
0.00493
|
NM_014846.4(WASHC5):c.867A>C (p.Val289=)
|
rs79464415
|
0.00491
|
NM_001077446.4(TSEN34):c.*109A>G
|
rs181231588
|
0.00482
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_001082486.2(ACD):c.494-20C>T
|
rs59443695
|
0.00465
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_005027.4(PIK3R2):c.1560-17C>T
|
rs183117011
|
0.00461
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser)
|
rs143873873
|
0.00450
|
NM_000368.5(TSC1):c.*3952A>G
|
rs114454155
|
0.00436
|
NM_025265.4(TSEN2):c.*78G>A
|
rs735640
|
0.00427
|
NM_001077446.4(TSEN34):c.39G>A (p.Val13=)
|
rs184898622
|
0.00426
|
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)
|
rs141088838
|
0.00423
|
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)
|
rs535090775
|
0.00423
|
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)
|
rs41291570
|
0.00421
|
NM_021926.4(ALX4):c.*2828C>T
|
rs77015141
|
0.00418
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
NM_021926.4(ALX4):c.*3769T>C
|
rs116662493
|
0.00400
|
NM_000368.5(TSC1):c.*2461G>A
|
rs73552806
|
0.00396
|
NM_021926.4(ALX4):c.*3773A>G
|
rs114755169
|
0.00394
|
NM_002449.5(MSX2):c.*1007T>A
|
rs74292295
|
0.00387
|
NM_002449.5(MSX2):c.*257T>C
|
rs187794452
|
0.00385
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
NM_002601.4(PDE6D):c.371+8A>C
|
rs75242814
|
0.00367
|
NM_014846.4(WASHC5):c.2100G>A (p.Val700=)
|
rs148936723
|
0.00357
|
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)
|
rs16903511
|
0.00353
|
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)
|
rs16903514
|
0.00352
|
NM_005465.7(AKT3):c.1416C>G (p.Ser472=)
|
rs148332912
|
0.00352
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_000368.5(TSC1):c.-99C>T
|
rs114755636
|
0.00347
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_015631.6(TCTN3):c.21G>A (p.Ala7=)
|
rs61737888
|
0.00320
|
NM_018718.3(CEP41):c.*2482A>T
|
rs189091601
|
0.00317
|
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)
|
rs114727970
|
0.00316
|
NM_002449.5(MSX2):c.*723A>C
|
rs115604243
|
0.00315
|
NM_000368.5(TSC1):c.*3729G>T
|
rs543396172
|
0.00309
|
NM_021926.4(ALX4):c.*2244G>A
|
rs183882854
|
0.00303
|
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)
|
rs116415979
|
0.00302
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_021926.4(ALX4):c.*997C>G
|
rs192668810
|
0.00293
|
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=)
|
rs75288720
|
0.00287
|
NM_000368.5(TSC1):c.*1902T>G
|
rs142038787
|
0.00285
|
NM_000368.5(TSC1):c.*2708G>C
|
rs150433809
|
0.00280
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_001077446.4(TSEN34):c.*865A>G
|
rs187570218
|
0.00272
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_021926.4(ALX4):c.*2673T>A
|
rs146304390
|
0.00260
|
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=)
|
rs56051835
|
0.00258
|
NM_001082486.2(ACD):c.819C>T (p.Pro273=)
|
rs138740815
|
0.00251
|
NM_021926.4(ALX4):c.*963G>A
|
rs140400459
|
0.00249
|
NM_020320.5(RARS2):c.-8A>C
|
rs28381459
|
0.00245
|
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)
|
rs201370957
|
0.00242
|
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val)
|
rs10413655
|
0.00240
|
NM_000368.5(TSC1):c.*2354A>G
|
rs114877981
|
0.00232
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_002449.5(MSX2):c.*1249T>C
|
rs139249455
|
0.00219
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001044385.3(TMEM237):c.554-15G>A
|
rs144051344
|
0.00213
|
NM_021926.4(ALX4):c.*524C>T
|
rs534068592
|
0.00212
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001044385.3(TMEM237):c.396-14C>T
|
rs74411816
|
0.00210
|
NM_000368.5(TSC1):c.*2109C>T
|
rs73552808
|
0.00200
|
NM_000368.5(TSC1):c.*1127C>T
|
rs139119563
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=)
|
rs144843243
|
0.00192
|
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)
|
rs114624650
|
0.00189
|
NM_001082486.2(ACD):c.1336C>T (p.Leu446=)
|
rs1050346
|
0.00188
|
NM_021926.4(ALX4):c.*1913G>A
|
rs189662898
|
0.00188
|
NM_000368.5(TSC1):c.106+15A>G
|
rs80258442
|
0.00187
|
NM_018718.3(CEP41):c.*655C>T
|
rs141441037
|
0.00185
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_021926.4(ALX4):c.*46G>A
|
rs72905941
|
0.00185
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_014846.4(WASHC5):c.2771-7T>C
|
rs142685897
|
0.00181
|
NM_021926.4(ALX4):c.*262G>A
|
rs560751940
|
0.00180
|
NM_021926.4(ALX4):c.*3123G>A
|
rs182987016
|
0.00175
|
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)
|
rs73496064
|
0.00172
|
NM_021926.4(ALX4):c.*1629C>T
|
rs184605209
|
0.00172
|
NM_021926.4(ALX4):c.*2845G>A
|
rs182853569
|
0.00172
|
NM_001368809.2(AMPD2):c.1984-15C>G
|
rs368592941
|
0.00168
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=)
|
rs148209667
|
0.00165
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_000368.5(TSC1):c.*2733A>G
|
rs73552805
|
0.00162
|
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)
|
rs35337955
|
0.00159
|
NM_000368.5(TSC1):c.*2874G>A
|
rs111832812
|
0.00158
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
NM_021926.4(ALX4):c.*1048C>T
|
rs532888348
|
0.00153
|
NM_001368809.2(AMPD2):c.1276-20A>G
|
rs140464475
|
0.00149
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_005465.7(AKT3):c.1359T>C (p.Asp453=)
|
rs142844303
|
0.00141
|
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val)
|
rs140376049
|
0.00139
|
NM_000368.5(TSC1):c.*2142T>C
|
rs112314368
|
0.00135
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
NM_021926.4(ALX4):c.*1088G>A
|
rs149094042
|
0.00135
|
NM_002449.5(MSX2):c.*1050T>C
|
rs184931219
|
0.00133
|
NM_005027.4(PIK3R2):c.1416+11C>T
|
rs140187437
|
0.00133
|
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)
|
rs80242901
|
0.00128
|
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys)
|
rs143719918
|
0.00127
|
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr)
|
rs35397235
|
0.00126
|
NM_021926.4(ALX4):c.*782A>G
|
rs373562733
|
0.00123
|
NM_021926.4(ALX4):c.*1121C>T
|
rs146483327
|
0.00118
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001044385.3(TMEM237):c.*564T>C
|
rs141560423
|
0.00113
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_015631.6(TCTN3):c.1591-5C>T
|
rs181107730
|
0.00109
|
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val)
|
rs370163562
|
0.00109
|
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=)
|
rs112859649
|
0.00108
|
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln)
|
rs202165114
|
0.00108
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00105
|
NM_000368.5(TSC1):c.876C>T (p.Val292=)
|
rs116756594
|
0.00104
|
NM_001082486.2(ACD):c.132C>T (p.Gly44=)
|
rs138527794
|
0.00102
|
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=)
|
rs114463063
|
0.00101
|
NM_002449.5(MSX2):c.*635G>A
|
rs192627117
|
0.00101
|
NM_002449.5(MSX2):c.117C>T (p.Arg39=)
|
rs376630472
|
0.00097
|
NM_001082486.2(ACD):c.444C>T (p.Leu148=)
|
rs151132164
|
0.00096
|
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys)
|
rs558127851
|
0.00095
|
NM_001368809.2(AMPD2):c.1408-12C>T
|
rs189047791
|
0.00090
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg)
|
rs142423043
|
0.00086
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=)
|
rs140523354
|
0.00083
|
NM_018718.3(CEP41):c.*3856C>T
|
rs187532705
|
0.00082
|
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala)
|
rs117911920
|
0.00081
|
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser)
|
rs142933317
|
0.00080
|
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=)
|
rs143654828
|
0.00080
|
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=)
|
rs146987351
|
0.00079
|
NM_014846.4(WASHC5):c.732G>A (p.Pro244=)
|
rs146320386
|
0.00079
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
NM_005027.4(PIK3R2):c.1416+15G>A
|
rs202218011
|
0.00076
|
NM_015631.6(TCTN3):c.500-6T>C
|
rs201444392
|
0.00076
|
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=)
|
rs138560086
|
0.00075
|
NM_018082.6(POLR3B):c.-106A>G
|
rs560914710
|
0.00070
|
NM_000368.5(TSC1):c.*358C>T
|
rs147729052
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_018082.6(POLR3B):c.2084-15C>T
|
rs181026609
|
0.00061
|
NM_018082.6(POLR3B):c.399C>T (p.Ile133=)
|
rs147328031
|
0.00060
|
NM_138959.3(VANGL1):c.285C>T (p.Ile95=)
|
rs140451005
|
0.00060
|
NM_000368.5(TSC1):c.*3448C>T
|
rs201092466
|
0.00056
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly)
|
rs148146916
|
0.00053
|
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=)
|
rs140686003
|
0.00052
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_005465.7(AKT3):c.285-13C>T
|
rs201603638
|
0.00051
|
NM_016955.4(SEPSECS):c.*223G>A
|
rs146860744
|
0.00051
|
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu)
|
rs201029925
|
0.00048
|
NM_018718.3(CEP41):c.*4595G>A
|
rs117814753
|
0.00046
|
NM_005465.7(AKT3):c.807C>T (p.Tyr269=)
|
rs150205993
|
0.00044
|
NM_000368.5(TSC1):c.*3538A>G
|
rs533324867
|
0.00041
|
NM_021926.4(ALX4):c.*1365C>A
|
rs529798397
|
0.00041
|
NM_005027.4(PIK3R2):c.1809-17A>G
|
rs199501065
|
0.00040
|
NM_021926.4(ALX4):c.*4105C>T
|
rs560087261
|
0.00040
|
NM_005465.7(AKT3):c.792C>T (p.Ser264=)
|
rs77764554
|
0.00039
|
NM_014846.4(WASHC5):c.2668-19C>T
|
rs368313044
|
0.00038
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_001082486.2(ACD):c.99+18G>A
|
rs369046068
|
0.00036
|
NM_005027.4(PIK3R2):c.323-15del
|
rs573541270
|
0.00036
|
NM_005465.7(AKT3):c.46+12G>A
|
rs184404650
|
0.00036
|
NM_020320.5(RARS2):c.879-6T>C
|
rs117516147
|
0.00036
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_000368.5(TSC1):c.*3988G>A
|
rs563835484
|
0.00034
|
NM_000368.5(TSC1):c.*405A>G
|
rs560193480
|
0.00034
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001368809.2(AMPD2):c.532-18G>A
|
rs41314005
|
0.00032
|
NM_001384732.1(CPLANE1):c.5820+7C>T
|
rs185534019
|
0.00031
|
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=)
|
rs749028997
|
0.00031
|
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His)
|
rs367971686
|
0.00031
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
NM_021926.4(ALX4):c.*2750G>A
|
rs372769669
|
0.00029
|
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln)
|
rs762238231
|
0.00028
|
NM_014846.4(WASHC5):c.12T>C (p.Phe4=)
|
rs202120400
|
0.00028
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)
|
rs368182922
|
0.00026
|
NM_005027.4(PIK3R2):c.323-16_323-15del
|
rs374033727
|
0.00025
|
NM_000368.5(TSC1):c.*2628G>C
|
rs189852768
|
0.00024
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_000368.5(TSC1):c.*4788A>C
|
rs576342925
|
0.00021
|
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=)
|
rs757521991
|
0.00021
|
NM_002449.5(MSX2):c.*1178C>T
|
rs182072112
|
0.00021
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_021926.4(ALX4):c.226C>A (p.Pro76Thr)
|
rs79200219
|
0.00018
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00016
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
NM_014846.4(WASHC5):c.2199+4C>A
|
rs145721086
|
0.00016
|
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=)
|
rs141396033
|
0.00015
|
NM_005027.4(PIK3R2):c.1011-19A>G
|
rs373122934
|
0.00015
|
NM_005465.7(AKT3):c.1398G>A (p.Pro466=)
|
rs150573714
|
0.00015
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_021926.4(ALX4):c.-36G>C
|
rs533107251
|
0.00012
|
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg)
|
rs181194055
|
0.00011
|
NM_021926.4(ALX4):c.*3999C>T
|
rs369328027
|
0.00011
|
NM_001368809.2(AMPD2):c.1080+9T>C
|
rs202160763
|
0.00010
|
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu)
|
rs146695372
|
0.00010
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
NM_002449.5(MSX2):c.699G>A (p.Ala233=)
|
rs201880865
|
0.00008
|
NM_015631.6(TCTN3):c.933G>T (p.Leu311=)
|
rs371380545
|
0.00008
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=)
|
rs184805842
|
0.00007
|
NM_000368.5(TSC1):c.*2168C>T
|
rs532469694
|
0.00006
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
NM_001368809.2(AMPD2):c.2158-9C>A
|
rs756915998
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_021926.4(ALX4):c.*437C>T
|
rs542591808
|
0.00006
|
NM_021926.4(ALX4):c.1106G>A (p.Gly369Glu)
|
rs750221052
|
0.00006
|
NM_000368.5(TSC1):c.231C>T (p.Asn77=)
|
rs397514809
|
0.00005
|
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr)
|
rs1041937206
|
0.00005
|
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)
|
rs142211875
|
0.00005
|
NM_000368.5(TSC1):c.*1508A>G
|
rs552190342
|
0.00004
|
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)
|
rs758374702
|
0.00004
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
NM_002449.5(MSX2):c.49G>A (p.Gly17Ser)
|
rs754789827
|
0.00004
|
NM_002449.5(MSX2):c.723G>A (p.Pro241=)
|
rs201103544
|
0.00004
|
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=)
|
rs200914853
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001173990.3(TMEM216):c.*303C>T
|
rs144613667
|
0.00003
|
NM_001368809.2(AMPD2):c.-52C>G
|
rs570541266
|
0.00003
|
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=)
|
rs546014325
|
0.00003
|
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn)
|
rs200547165
|
0.00003
|
NM_138959.3(VANGL1):c.518G>A (p.Arg173His)
|
rs148341022
|
0.00003
|
NM_000368.5(TSC1):c.*1052G>A
|
rs562950766
|
0.00002
|
NM_000368.5(TSC1):c.*4385G>T
|
rs552453527
|
0.00002
|
NM_000368.5(TSC1):c.-35G>A
|
rs370122384
|
0.00002
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn)
|
rs774502328
|
0.00002
|
NM_005465.7(AKT3):c.1163+16C>T
|
rs781443210
|
0.00002
|
NM_020320.5(RARS2):c.-13C>T
|
rs200228607
|
0.00002
|
NM_000368.5(TSC1):c.*651C>G
|
rs369911288
|
0.00001
|
NM_000368.5(TSC1):c.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr)
|
rs754457018
|
0.00001
|
NM_002449.5(MSX2):c.756G>A (p.Val252=)
|
rs542254664
|
0.00001
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
0.00001
|
NM_004958.4(MTOR):c.3117+34G>A
|
rs545304092
|
0.00001
|
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu)
|
rs1239460949
|
0.00001
|
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp)
|
rs770694944
|
0.00001
|
NM_005465.7(AKT3):c.1044C>T (p.Asn348=)
|
rs199771220
|
0.00001
|
NM_015631.6(TCTN3):c.324C>T (p.Asp108=)
|
rs566756038
|
0.00001
|
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys)
|
rs562472225
|
0.00001
|
NM_021926.4(ALX4):c.474G>C (p.Glu158Asp)
|
rs553689111
|
0.00001
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NM_000368.5(TSC1):c.*1507G>A
|
rs739441
|
|
NM_000368.5(TSC1):c.*198T>C
|
rs7037703
|
|
NM_000368.5(TSC1):c.*289del
|
rs11323835
|
|
NM_000368.5(TSC1):c.*295C>G
|
rs113549339
|
|
NM_000368.5(TSC1):c.*4763T>C
|
rs79470094
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4dup
|
rs5901000
|
|
NM_000435.3(NOTCH3):c.5913+45T>C
|
rs4809028
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001077446.4(TSEN34):c.*1163C>G
|
rs115093373
|
|
NM_001077446.4(TSEN34):c.*245A>C
|
rs4042
|
|
NM_001077446.4(TSEN34):c.*385=
|
rs1156850349
|
|
NM_001077446.4(TSEN34):c.*385A>C
|
rs36622
|
|
NM_001082486.2(ACD):c.743-3dup
|
rs1369632476
|
|
NM_001128159.3(VPS53):c.1218+57G>C
|
rs10521105
|
|
NM_001128159.3(VPS53):c.1314-19dup
|
rs36070043
|
|
NM_001134831.2(AHI1):c.*28G>C
|
rs9494209
|
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
NM_001173990.3(TMEM216):c.-24C>G
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
NM_001199198.3(TBC1D23):c.1554-49dup
|
rs2148869399
|
|
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
|
|
|
NM_001368809.2(AMPD2):c.1863-3dup
|
|
|
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)
|
rs553448801
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001384732.1(CPLANE1):c.2746+16del
|
rs751625561
|
|
NM_002449.5(MSX2):c.*1006dup
|
rs397692104
|
|
NM_002449.5(MSX2):c.*157A>T
|
rs17063878
|
|
NM_002449.5(MSX2):c.*172G>A
|
rs577291689
|
|
NM_002449.5(MSX2):c.*878C>T
|
rs554272174
|
|
NM_002449.5(MSX2):c.-56C>A
|
rs113874536
|
|
NM_002449.5(MSX2):c.380-18C>T
|
|
|
NM_002449.5(MSX2):c.444C>T (p.Pro148=)
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
|
|
|
NM_005027.4(PIK3R2):c.1110-16C>T
|
|
|
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=)
|
rs199931960
|
|
NM_005027.4(PIK3R2):c.1416+14C>T
|
|
|
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
|
|
|
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
|
|
|
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
|
|
|
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser)
|
rs769397940
|
|
NM_005027.4(PIK3R2):c.1809-7A>T
|
rs201271257
|
|
NM_005027.4(PIK3R2):c.1809-8dup
|
rs566994275
|
|
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=)
|
rs201568661
|
|
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=)
|
rs1258315228
|
|
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
|
|
|
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys)
|
rs80233027
|
|
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
|
|
|
NM_005027.4(PIK3R2):c.598+11C>T
|
|
|
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
|
|
|
NM_005465.7(AKT3):c.1251+15T>C
|
|
|
NM_005465.7(AKT3):c.173-23_173-20del
|
rs773557899
|
|
NM_005465.7(AKT3):c.430-17dup
|
rs780927904
|
|
NM_005465.7(AKT3):c.46+11C>T
|
|
|
NM_005465.7(AKT3):c.628-9dup
|
|
|
NM_005559.4(LAMA1):c.2274+70dup
|
rs113133818
|
|
NM_005559.4(LAMA1):c.4479A>G (p.Ser1493=)
|
rs625106
|
|
NM_006416.5(SLC35A1):c.*521_*522insAATG
|
rs10681831
|
|
NM_014008.5(CCDC22):c.747= (p.Gln249=)
|
rs2294020
|
|
NM_014846.4(WASHC5):c.187-6dup
|
rs745362878
|
|
NM_014846.4(WASHC5):c.2851-18del
|
|
|
NM_014846.4(WASHC5):c.333-19A>G
|
rs2384916
|
|
NM_014846.4(WASHC5):c.333-19A>T
|
|
|
NM_014846.4(WASHC5):c.711+16A>G
|
|
|
NM_014846.4(WASHC5):c.720G>A (p.Ala240=)
|
rs758215702
|
|
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu)
|
rs138495428
|
|
NM_016042.4(EXOSC3):c.*118G>T
|
rs1059059
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
NM_016111.4(TELO2):c.2407+77A>T
|
rs12927760
|
|
NM_016111.4(TELO2):c.933+11del
|
rs11344586
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
NM_016955.4(SEPSECS):c.115-18dup
|
rs34423002
|
|
NM_016955.4(SEPSECS):c.115-4del
|
rs34423002
|
|
NM_018082.6(POLR3B):c.1102-3dup
|
rs202125845
|
|
NM_018082.6(POLR3B):c.1102-4_1102-3dup
|
rs202125845
|
|
NM_018082.6(POLR3B):c.72+184_72+188del
|
rs139244819
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|
NM_020320.5(RARS2):c.726A>G (p.Gln242=)
|
rs145499324
|
|
NM_020335.3(VANGL2):c.403C>T (p.Arg135Trp)
|
|
|
NM_021926.4(ALX4):c.*1532G>A
|
rs373805569
|
|
NM_021926.4(ALX4):c.*3081C>T
|
rs139681611
|
|
NM_021926.4(ALX4):c.*3405G>A
|
rs7115841
|
|
NM_021926.4(ALX4):c.*944G>T
|
rs188954464
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025265.4(TSEN2):c.122G>A (p.Arg41His)
|
rs12495784
|
|
NM_033026.6(PCLO):c.8778_8780dup (p.Asp2926dup)
|
rs10630259
|
|
NM_138959.3(VANGL1):c.*1749G>T
|
rs3811010
|
|
NM_138959.3(VANGL1):c.*313A>G
|
rs3811012
|
|
NM_138959.3(VANGL1):c.*5633T>G
|
rs4348723
|
|
NM_138959.3(VANGL1):c.-226G>C
|
rs116216703
|
|