NM_001384732.1(CPLANE1):c.81+20=
|
rs6876576
|
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_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_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_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
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.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_001378615.1(CC2D2A):c.1764+45T>G
|
rs1558572
|
0.75139
|
NM_001368809.2(AMPD2):c.860+19A>G
|
rs524998
|
0.73896
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
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_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_005559.4(LAMA1):c.6004A>G (p.Lys2002Glu)
|
rs607230
|
0.68054
|
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_020320.5(RARS2):c.1512-43T>C
|
rs9450723
|
0.61345
|
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_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_000435.3(NOTCH3):c.2538C>T (p.Cys846=)
|
rs1043996
|
0.56438
|
NM_004958.4(MTOR):c.4731G>A (p.Ala1577=)
|
rs1057079
|
0.55171
|
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_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_021926.4(ALX4):c.104G>C (p.Arg35Thr)
|
rs3824915
|
0.42227
|
NM_016111.4(TELO2):c.2226+38A>G
|
rs11248882
|
0.42009
|
NM_018027.5(FRMD4A):c.207-16T>C
|
rs3740121
|
0.41756
|
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)
|
rs2248128
|
0.41062
|
NM_001128159.3(VPS53):c.1867-81C>T
|
rs7219151
|
0.40515
|
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_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.*55T>A
|
rs4784319
|
0.37955
|
NM_016111.4(TELO2):c.2415T>C (p.Ala805=)
|
rs3180228
|
0.37206
|
NM_001497.4(B4GALT1):c.648+102C>T
|
rs913214
|
0.35792
|
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_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_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_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_015631.6(TCTN3):c.1204-43T>C
|
rs17461546
|
0.27142
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
NM_005559.4(LAMA1):c.3126+7A>G
|
rs603258
|
0.25992
|
NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=)
|
rs2016639
|
0.25393
|
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=)
|
rs13561
|
0.24486
|
NM_020320.5(RARS2):c.111-21C>T
|
rs9450740
|
0.24263
|
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_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_033026.6(PCLO):c.860A>G (p.Asp287Gly)
|
rs61741659
|
0.18909
|
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=)
|
rs3815188
|
0.18114
|
NM_001128159.3(VPS53):c.81C>T (p.Ile27=)
|
rs11558129
|
0.16882
|
NM_005559.4(LAMA1):c.4026T>G (p.Val1342=)
|
rs73938538
|
0.15758
|
NM_001128159.3(VPS53):c.1867-71T>C
|
rs12951098
|
0.15268
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_005559.4(LAMA1):c.5288C>T (p.Ala1763Val)
|
rs12607841
|
0.13777
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
NM_001082486.2(ACD):c.1298+20C>A
|
rs67114979
|
0.13128
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
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_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
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_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.778-11G>A
|
rs75147697
|
0.08417
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
NM_001128159.3(VPS53):c.1117-3C>T
|
rs56807006
|
0.08020
|
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)
|
rs2302566
|
0.07763
|
NM_020320.5(RARS2):c.111-19T>G
|
rs6900057
|
0.07559
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
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_001497.4(B4GALT1):c.597C>T (p.His199=)
|
rs1065765
|
0.05834
|
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_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_016955.4(SEPSECS):c.1211+7A>G
|
rs17408685
|
0.04557
|
NM_020320.5(RARS2):c.1237+38G>A
|
rs13203056
|
0.04243
|
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr)
|
rs149081991
|
0.03942
|
NM_001082486.2(ACD):c.1371G>T (p.Pro457=)
|
rs14920
|
0.03535
|
NM_020320.5(RARS2):c.703G>A (p.Val235Met)
|
rs35862137
|
0.03019
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_001368809.2(AMPD2):c.1984-19C>T
|
rs75276578
|
0.02404
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)
|
rs34030799
|
0.01484
|
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)
|
rs147189192
|
0.00679
|
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)
|
rs144632022
|
0.00602
|
NM_001082486.2(ACD):c.1207-10C>T
|
rs67185288
|
0.00536
|
NM_001082486.2(ACD):c.494-20C>T
|
rs59443695
|
0.00465
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)
|
rs116415979
|
0.00302
|
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_001082486.2(ACD):c.1336C>T (p.Leu446=)
|
rs1050346
|
0.00188
|
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val)
|
rs140376049
|
0.00139
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
NM_001082486.2(ACD):c.132C>T (p.Gly44=)
|
rs138527794
|
0.00102
|
NM_001368809.2(AMPD2):c.1408-12C>T
|
rs189047791
|
0.00090
|
NM_001368809.2(AMPD2):c.1080+9T>C
|
rs202160763
|
0.00010
|
NM_000435.3(NOTCH3):c.5913+45T>C
|
rs4809028
|
|
NM_001128159.3(VPS53):c.1218+57G>C
|
rs10521105
|
|
NM_001128159.3(VPS53):c.1314-19dup
|
rs36070043
|
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
NM_001199198.3(TBC1D23):c.1554-49dup
|
rs2148869399
|
|
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)
|
rs553448801
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
NM_005559.4(LAMA1):c.4479A>G (p.Ser1493=)
|
rs625106
|
|
NM_014008.5(CCDC22):c.747= (p.Gln249=)
|
rs2294020
|
|
NM_016111.4(TELO2):c.2407+77A>T
|
rs12927760
|
|
NM_016111.4(TELO2):c.933+11del
|
rs11344586
|
|
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_033026.6(PCLO):c.8778_8780dup (p.Asp2926dup)
|
rs10630259
|
|