NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)
|
rs114280473
|
0.00417
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
|
rs111294855
|
0.00212
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)
|
rs759799287
|
0.00011
|
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)
|
rs141744337
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
|
rs150433582
|
0.00004
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter)
|
rs374574638
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)
|
rs150219690
|
0.00004
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
NM_001258244.2(TMEM218):c.239G>A (p.Arg80His)
|
rs575689990
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)
|
rs750247691
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)
|
rs367543063
|
0.00002
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys)
|
rs771170000
|
0.00002
|
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter)
|
rs751962801
|
0.00001
|
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)
|
rs387907003
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)
|
rs121912606
|
0.00001
|
NM_001308120.2(TOGARAM1):c.3619C>T (p.Arg1207Ter)
|
rs370236552
|
0.00001
|
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)
|
rs753432312
|
0.00001
|
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)
|
rs780265931
|
0.00001
|
NM_001375405.1(CEP120):c.1646C>T (p.Ala549Val)
|
rs775080726
|
0.00001
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His)
|
rs606231261
|
0.00001
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
NM_004311.4(ARL3):c.445C>T (p.Arg149Cys)
|
rs776901858
|
0.00001
|
NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter)
|
rs539010725
|
0.00001
|
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala)
|
rs987735817
|
0.00001
|
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)
|
rs886038205
|
0.00001
|
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)
|
rs1554854758
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)
|
rs13297509
|
0.00001
|
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)
|
rs751583919
|
0.00001
|
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)
|
rs757863670
|
0.00001
|
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)
|
rs863225232
|
0.00001
|
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)
|
rs267607118
|
0.00001
|
NM_153704.6(TMEM67):c.2439+5G>C
|
rs756686115
|
0.00001
|
NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter)
|
rs1259897171
|
0.00001
|
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.677+1G>T
|
rs793888505
|
|
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
|
rs387907131
|
|
NM_001082538.3(TCTN1):c.221-2A>G
|
rs367543065
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)
|
rs121434349
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
|
rs387906270
|
|
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs)
|
rs387906269
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)
|
rs121912607
|
|
NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys)
|
rs863225430
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)
|
rs1950967763
|
|
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)
|
rs1885329722
|
|
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
|
rs368448387
|
|
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)
|
rs1463041654
|
|
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
|
rs759684383
|
|
NM_001308120.2:c.2339_3238del
|
|
|
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)
|
rs796052128
|
|
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val)
|
rs796052129
|
|
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)
|
rs759799287
|
|
NM_001352754.2(ARMC9):c.1211-434_1335-1595delinsGTTTGTTTGTTTGTTTGCATTA
|
|
|
NM_001352754.2(ARMC9):c.1474+1G>C
|
rs1114167448
|
|
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)
|
rs1114167449
|
|
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)
|
rs372770167
|
|
NM_001375405.1(CEP120):c.1138_1139insA (p.Ser380fs)
|
rs1554103267
|
|
NM_001375405.1(CEP120):c.2177T>C (p.Leu726Pro)
|
rs1554102026
|
|
NM_001375405.1(CEP120):c.581T>C (p.Val194Ala)
|
rs1554104276
|
|
NM_001378615.1(CC2D2A):c.2338+1G>C
|
rs2109050324
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001379286.1(ZNF423):c.1542del (p.Asn515fs)
|
rs1596763347
|
|
NM_001379286.1(ZNF423):c.3853C>T (p.His1285Tyr)
|
rs1596988259
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)
|
rs587777140
|
|
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)
|
rs587777143
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)
|
rs537456518
|
|
NM_001382391.1(CSPP1):c.2968+1G>A
|
rs587777142
|
|
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)
|
rs587777141
|
|
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)
|
rs587777146
|
|
NM_001384732.1(CPLANE1):c.3150-1G>T
|
rs606231258
|
|
NM_001384732.1(CPLANE1):c.3290-2A>G
|
rs606231260
|
|
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)
|
rs367543064
|
|
NM_002601.4(PDE6D):c.140-1G>A
|
rs587777156
|
|
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)
|
rs1559307932
|
|
NM_003611.3(OFD1):c.2767del (p.Glu923fs)
|
rs312262894
|
|
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs)
|
rs312262895
|
|
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del)
|
rs398122866
|
|
NM_004311.4(ARL3):c.446G>A (p.Arg149His)
|
rs770782663
|
|
NM_006346.4(PIBF1):c.1181_1182insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Arg385_Arg396dup)
|
rs2037306370
|
|
NM_006346.4:c.(672+1_673-1)_(1322+1_1323-1)del
|
|
|
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs)
|
rs869025277
|
|
NM_014704.4(CEP104):c.2572-2A>G
|
rs869025278
|
|
NM_014704.4(CEP104):c.735+2T>C
|
rs869025276
|
|
NM_014804.3(KIAA0753):c.2359-1G>C
|
rs1312865574
|
|
NM_014804.3(KIAA0753):c.769A>G (p.Arg257Gly)
|
rs2150895254
|
|
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)
|
rs864309712
|
|
NM_015202.5(KATNIP):c.4420del (p.Met1474fs)
|
rs1555497891
|
|
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)
|
rs863225216
|
|
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)
|
rs121918200
|
|
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)
|
rs387906243
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg)
|
rs793888508
|
|
NM_015681.6(B9D1):c.517GTG[1] (p.Val174del)
|
rs886038206
|
|
NM_016169.4(SUFU):c.527A>G (p.His176Arg)
|
rs1554852272
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)
|
rs387907134
|
|
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)
|
rs387907133
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1491-2A>G
|
rs886038203
|
|
NM_017777.4(MKS1):c.1588+1G>T
|
rs886038204
|
|
NM_018718.3(CEP41):c.33+2T>G
|
rs1584916464
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
|
rs1584901211
|
|
NM_018718.3(CEP41):c.97+3_97+5del
|
rs2117674119
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)
|
rs121918128
|
|
NM_024809.5(TCTN2):c.1235-1G>A
|
rs863225425
|
|
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)
|
rs863225426
|
|
NM_024809.5(TCTN2):c.76dup (p.Asp26fs)
|
rs863225222
|
|
NM_025103.4(IFT74):c.306-24A>G
|
rs2131540908
|
|
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)
|
rs1056125920
|
|
NM_025103.4(IFT74):c.92del (p.Leu31fs)
|
rs2131480409
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
NM_153704.6(TMEM67):c.2315_2322+4delinsG
|
rs1554557920
|
|
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)
|
rs267607116
|
|
NM_153704.6(TMEM67):c.[1634G>A;2241G>A]
|
|
|
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)
|
rs1589150410
|
|
NM_175876.5(EXOC8):c.794A>G (p.Glu265Gly)
|
rs483352868
|
|
NM_183065.4(TMEM107):c.295TTC[1] (p.Phe100del)
|
rs752171066
|
|
NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del)
|
rs780942335
|
|