NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=)
|
rs1748971
|
0.99666
|
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=)
|
rs6491088
|
0.99194
|
NM_016529.6(ATP8A2):c.3184-88G>A
|
rs9511998
|
0.98717
|
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala)
|
rs1617510
|
0.97670
|
NM_001329943.3(KIAA0586):c.1254-25G>A
|
rs1743721
|
0.97577
|
NM_001329943.3(KIAA0586):c.2254+25A>G
|
rs1743716
|
0.97575
|
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)
|
rs1748986
|
0.97574
|
NM_001378615.1(CC2D2A):c.4065+28A>T
|
rs6832789
|
0.95451
|
NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
NM_032856.5(WDR73):c.591A>G (p.Ser197=)
|
rs2271432
|
0.87940
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_016529.6(ATP8A2):c.2384+55C>T
|
rs2296003
|
0.86506
|
NM_001378615.1(CC2D2A):c.247+26A>G
|
rs10000250
|
0.85216
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_003383.5(VLDLR):c.-69A>G
|
rs12379259
|
0.81906
|
NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=)
|
rs2241645
|
0.75696
|
NM_001378615.1(CC2D2A):c.1764+45T>G
|
rs1558572
|
0.75139
|
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)
|
rs3809872
|
0.73341
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
NM_001173990.3(TMEM216):c.*558G>A
|
rs7607
|
0.73129
|
NM_033064.5(ATCAY):c.*2586A>G
|
rs8104659
|
0.72881
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_001378615.1(CC2D2A):c.3595-55C>G
|
rs4280723
|
0.69017
|
NM_001378615.1(CC2D2A):c.3288+41A>C
|
rs13116304
|
0.68417
|
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=)
|
rs6491066
|
0.68336
|
NM_016529.6(ATP8A2):c.1185+71A>G
|
rs7332442
|
0.65665
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_001044385.3(TMEM237):c.274+23A>G
|
rs1208081
|
0.64988
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
NM_016529.6(ATP8A2):c.2008-4G>C
|
rs7335339
|
0.61047
|
NM_004056.6(CA8):c.-54A>C
|
rs10101374
|
0.60710
|
NM_004056.6(CA8):c.100+85T>C
|
rs7002871
|
0.60674
|
NM_004056.6(CA8):c.-103T>C
|
rs10086341
|
0.60622
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_001378615.1(CC2D2A):c.*21G>C
|
rs1134634
|
0.57021
|
NM_018718.3(CEP41):c.*5102G>A
|
rs1990790
|
0.54035
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_017777.4(MKS1):c.750-105T>C
|
rs3744105
|
0.53777
|
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=)
|
rs3809871
|
0.53472
|
NM_001378615.1(CC2D2A):c.1765-24A>G
|
rs1861044
|
0.52969
|
NM_016529.6(ATP8A2):c.3183+95C>T
|
rs2249800
|
0.52080
|
NM_004056.6(CA8):c.327A>G (p.Glu109=)
|
rs7464181
|
0.51676
|
NM_001329943.3(KIAA0586):c.4495+3795T>C
|
rs28535751
|
0.42605
|
NM_033064.5(ATCAY):c.*823C>T
|
rs10424392
|
0.39386
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
NM_018718.3(CEP41):c.-5A>C
|
rs2287371
|
0.39010
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
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_033064.5(ATCAY):c.*3181G>A
|
rs10412199
|
0.37873
|
NM_018718.3(CEP41):c.*4295G>C
|
rs4728195
|
0.36596
|
NM_017777.4(MKS1):c.261+67A>G
|
rs7225148
|
0.34782
|
NM_003383.5(VLDLR):c.-56C>T
|
rs34881325
|
0.31505
|
NM_003383.5(VLDLR):c.82+7G>A
|
rs2219143
|
0.31376
|
NM_017651.4(AHI1):c.-293G>T
|
rs13197384
|
0.29491
|
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn)
|
rs8182086
|
0.27524
|
NM_001134831.2(AHI1):c.*218C>T
|
rs1052502
|
0.27386
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
NM_003383.5(VLDLR):c.2416+8G>T
|
rs6145
|
0.24562
|
NM_001163809.2(WDR81):c.5506-19C>G
|
rs62090051
|
0.23717
|
NM_018718.3(CEP41):c.*4037A>G
|
rs7793239
|
0.23508
|
NM_001163809.2(WDR81):c.*56A>G
|
rs2287322
|
0.22860
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)
|
rs8065251
|
0.22229
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=)
|
rs9912287
|
0.21861
|
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)
|
rs8077638
|
0.21643
|
NM_015160.3(PMPCA):c.1200+33G>A
|
rs4604565
|
0.21146
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_015272.5(RPGRIP1L):c.3432+67G>A
|
rs113961478
|
0.19784
|
NM_003383.5(VLDLR):c.1313-17A>T
|
rs6144
|
0.19776
|
NM_018718.3(CEP41):c.*2041G>A
|
rs73152868
|
0.18522
|
NM_003383.5(VLDLR):c.1066+43C>T
|
rs10967320
|
0.18162
|
NM_018718.3(CEP41):c.*1859G>T
|
rs73152869
|
0.17105
|
NM_033064.5(ATCAY):c.1074-14T>C
|
rs10420591
|
0.16262
|
NM_003383.5(VLDLR):c.*551T>C
|
rs8210
|
0.16040
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_018718.3(CEP41):c.*1931C>T
|
rs17133175
|
0.15684
|
NM_003383.5(VLDLR):c.1187-3C>T
|
rs11789583
|
0.15129
|
NM_003383.5(VLDLR):c.1312+27G>A
|
rs11793899
|
0.14831
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=)
|
rs6148
|
0.13882
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
NM_015160.3(PMPCA):c.90C>T (p.Tyr30=)
|
rs10870144
|
0.13348
|
NM_001382391.1(CSPP1):c.2392-17C>T
|
rs58448590
|
0.13329
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His)
|
rs16933182
|
0.12797
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_018718.3(CEP41):c.*3887C>G
|
rs62471754
|
0.11370
|
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_003383.5(VLDLR):c.*180G>A
|
rs3421
|
0.10555
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
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_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly)
|
rs72750868
|
0.06616
|
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile)
|
rs6149
|
0.05632
|
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_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=)
|
rs6143
|
0.04393
|
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_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_001134831.2(AHI1):c.-299G>A
|
rs113052089
|
0.03529
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
NM_033064.5(ATCAY):c.*1586T>C
|
rs10411454
|
0.03139
|
NM_003383.5(VLDLR):c.944-5T>C
|
rs35782329
|
0.03136
|
NM_033064.5(ATCAY):c.*806A>G
|
rs73919392
|
0.03009
|
NM_001382391.1(CSPP1):c.-34C>G
|
rs117210747
|
0.02944
|
NM_033064.5(ATCAY):c.*976C>G
|
rs73919393
|
0.02901
|
NM_033064.5(ATCAY):c.*1542C>T
|
rs10404967
|
0.02886
|
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_001134831.2(AHI1):c.2223T>C (p.Asp741=)
|
rs2273761
|
0.02399
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_003383.5(VLDLR):c.24G>A (p.Ala8=)
|
rs34336270
|
0.02372
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
NM_001173990.3(TMEM216):c.*444T>C
|
rs116047887
|
0.02253
|
NM_033064.5(ATCAY):c.*1036G>C
|
rs73919394
|
0.02206
|
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg)
|
rs1808140
|
0.02204
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=)
|
rs11611
|
0.02142
|
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_033064.5(ATCAY):c.137-11T>C
|
rs73919387
|
0.02031
|
NM_033064.5(ATCAY):c.*507G>C
|
rs116813246
|
0.01949
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
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_033064.5(ATCAY):c.*2026G>A
|
rs147402942
|
0.01676
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
NM_033064.5(ATCAY):c.*1423T>A
|
rs184437292
|
0.01635
|
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=)
|
rs76567936
|
0.01632
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_033064.5(ATCAY):c.*1235T>C
|
rs148116098
|
0.01449
|
NM_001044385.3(TMEM237):c.*3124A>T
|
rs79378497
|
0.01390
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
NM_018718.3(CEP41):c.*3507C>T
|
rs149385617
|
0.01355
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)
|
rs115739052
|
0.01305
|
NM_018718.3(CEP41):c.*3765G>T
|
rs138768326
|
0.01276
|
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=)
|
rs45568037
|
0.01255
|
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
|
rs117195541
|
0.01237
|
NM_001044385.3(TMEM237):c.-12G>A
|
rs113186360
|
0.01229
|
NM_001329943.3(KIAA0586):c.2060-3T>C
|
rs17094553
|
0.01209
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_033064.5(ATCAY):c.*1190G>A
|
rs143684746
|
0.01134
|
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser)
|
rs190271845
|
0.01118
|
NM_033064.5(ATCAY):c.866+6A>G
|
rs116660680
|
0.01088
|
NM_001329943.3(KIAA0586):c.2553+11G>A
|
rs78511804
|
0.01083
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
NM_033064.5(ATCAY):c.810C>T (p.Ile270=)
|
rs61746441
|
0.01075
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=)
|
rs10135645
|
0.01047
|
NM_018718.3(CEP41):c.*3783T>C
|
rs117071818
|
0.01015
|
NM_033064.5(ATCAY):c.*2514A>G
|
rs142048723
|
0.00992
|
NM_032856.5(WDR73):c.336G>A (p.Gln112=)
|
rs73449331
|
0.00970
|
NM_016464.5(TMEM138):c.-24G>A
|
rs116455434
|
0.00930
|
NM_033064.5(ATCAY):c.*486A>C
|
rs115839391
|
0.00924
|
NM_033064.5(ATCAY):c.*3154C>T
|
rs116311313
|
0.00916
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_032856.5(WDR73):c.41+262G>A
|
rs147776100
|
0.00888
|
NM_033064.5(ATCAY):c.*2692G>A
|
rs117794052
|
0.00870
|
NM_001044385.3(TMEM237):c.*1489G>C
|
rs78220061
|
0.00855
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)
|
rs114177619
|
0.00835
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly)
|
rs3783697
|
0.00806
|
NM_001382391.1(CSPP1):c.3110-11A>G
|
rs148930801
|
0.00781
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)
|
rs62000428
|
0.00732
|
NM_033064.5(ATCAY):c.*2394C>T
|
rs10406812
|
0.00732
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val)
|
rs59248588
|
0.00694
|
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)
|
rs74055693
|
0.00689
|
NM_018718.3(CEP41):c.*1512C>T
|
rs73721889
|
0.00689
|
NM_033064.5(ATCAY):c.*1180C>T
|
rs140608538
|
0.00683
|
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)
|
rs75220808
|
0.00678
|
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile)
|
rs61745119
|
0.00667
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
NM_003383.5(VLDLR):c.449-12C>T
|
rs73640152
|
0.00648
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_001378615.1(CC2D2A):c.-18-2673G>A
|
rs183968785
|
0.00636
|
NM_001382391.1(CSPP1):c.3220+13A>G
|
rs139491415
|
0.00625
|
NM_003383.5(VLDLR):c.*534T>C
|
rs10967349
|
0.00619
|
NM_001173990.3(TMEM216):c.*21A>G
|
rs111371929
|
0.00615
|
NM_003383.5(VLDLR):c.-171G>C
|
rs35763266
|
0.00593
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_153704.6(TMEM67):c.506+18G>T
|
rs116705535
|
0.00585
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_033064.5(ATCAY):c.*7G>A
|
rs60814801
|
0.00577
|
NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr)
|
rs61735931
|
0.00533
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)
|
rs79720897
|
0.00518
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_033064.5(ATCAY):c.*1193T>A
|
rs192536222
|
0.00517
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=)
|
rs148006211
|
0.00501
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_001044385.3(TMEM237):c.*962A>C
|
rs142403941
|
0.00484
|
NM_001044385.3(TMEM237):c.*969A>G
|
rs137925244
|
0.00484
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_001382391.1(CSPP1):c.-121A>G
|
rs181470846
|
0.00481
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys)
|
rs146431326
|
0.00429
|
NM_001044385.3(TMEM237):c.*3453T>G
|
rs77771615
|
0.00420
|
NM_001044385.3(TMEM237):c.*2137A>G
|
rs115353606
|
0.00418
|
NM_001044385.3(TMEM237):c.*2349C>T
|
rs74884418
|
0.00418
|
NM_001044385.3(TMEM237):c.*3372C>T
|
rs192214909
|
0.00418
|
NM_001044385.3(TMEM237):c.*1107C>T
|
rs143516209
|
0.00417
|
NM_001044385.3(TMEM237):c.*1975C>G
|
rs142233268
|
0.00417
|
NM_001044385.3(TMEM237):c.*2719G>A
|
rs142852956
|
0.00417
|
NM_001044385.3(TMEM237):c.*2180G>A
|
rs77649251
|
0.00416
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_001044385.3(TMEM237):c.*1588G>A
|
rs150141936
|
0.00396
|
NM_033064.5(ATCAY):c.*871T>G
|
rs183948049
|
0.00396
|
NM_033064.5(ATCAY):c.*313G>A
|
rs141455019
|
0.00392
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_001044385.3(TMEM237):c.*2431T>G
|
rs142355657
|
0.00379
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_001382391.1(CSPP1):c.100-13A>G
|
rs78076942
|
0.00359
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_153704.6(TMEM67):c.507-19T>C
|
rs138589757
|
0.00344
|
NM_001044385.3(TMEM237):c.*2480T>G
|
rs75655554
|
0.00337
|
NM_033064.5(ATCAY):c.*26T>C
|
rs190923267
|
0.00335
|
NM_033064.5(ATCAY):c.647+10C>T
|
rs181866005
|
0.00331
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_033064.4(ATCAY):c.-390A>G
|
rs140876148
|
0.00318
|
NM_018718.3(CEP41):c.*2482A>T
|
rs189091601
|
0.00317
|
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=)
|
rs61729923
|
0.00314
|
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile)
|
rs61742715
|
0.00313
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
NM_018718.3(CEP41):c.*2116T>C
|
rs190709953
|
0.00306
|
NM_001378615.1(CC2D2A):c.-87G>A
|
rs145443888
|
0.00305
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu)
|
rs73693125
|
0.00295
|
NM_001382391.1(CSPP1):c.484-15T>G
|
rs199671558
|
0.00290
|
NM_018718.3(CEP41):c.*593G>A
|
rs186685101
|
0.00290
|
NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu)
|
rs147031440
|
0.00290
|
NM_018718.3(CEP41):c.*136T>G
|
rs148305542
|
0.00287
|
NM_018718.3(CEP41):c.*4314T>C
|
rs114939029
|
0.00286
|
NM_018718.3(CEP41):c.*4322G>A
|
rs538898722
|
0.00283
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_033064.5(ATCAY):c.*3108C>T
|
rs143949702
|
0.00262
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_001382391.1(CSPP1):c.3109+18C>T
|
rs139599638
|
0.00242
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)
|
rs10112748
|
0.00231
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met)
|
rs56737058
|
0.00223
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_018718.3(CEP41):c.*1974A>G
|
rs185337247
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln)
|
rs201609022
|
0.00214
|
NM_001044385.3(TMEM237):c.554-15G>A
|
rs144051344
|
0.00213
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
NM_001044385.3(TMEM237):c.396-14C>T
|
rs74411816
|
0.00210
|
NM_033064.5(ATCAY):c.*687C>A
|
rs377406299
|
0.00209
|
NM_001044385.3(TMEM237):c.*439G>A
|
rs139374574
|
0.00208
|
NM_001044385.3(TMEM237):c.*634C>T
|
rs139016907
|
0.00207
|
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val)
|
rs144456198
|
0.00204
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_001173990.3(TMEM216):c.*107G>T
|
rs535550368
|
0.00203
|
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)
|
rs140565291
|
0.00202
|
NM_015272.5(RPGRIP1L):c.*1385A>G
|
rs150194508
|
0.00201
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
NM_018718.3(CEP41):c.*3274G>A
|
rs112007936
|
0.00199
|
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg)
|
rs201259375
|
0.00198
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
NM_001329943.3(KIAA0586):c.4496-16C>T
|
rs111487478
|
0.00195
|
NM_015272.5(RPGRIP1L):c.*1461A>T
|
rs184079732
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)
|
rs143947747
|
0.00194
|
NM_003383.5(VLDLR):c.*46C>G
|
rs35412127
|
0.00193
|
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
|
rs36069919
|
0.00187
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_018718.3(CEP41):c.*655C>T
|
rs141441037
|
0.00185
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)
|
rs141389465
|
0.00183
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val)
|
rs182008317
|
0.00181
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu)
|
rs186119649
|
0.00179
|
NM_001077418.3(TMEM231):c.-40C>G
|
rs114889548
|
0.00177
|
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)
|
rs201036290
|
0.00177
|
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys)
|
rs200722491
|
0.00175
|
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=)
|
rs201008264
|
0.00173
|
NM_018718.3(CEP41):c.*1056A>C
|
rs574982700
|
0.00170
|
NM_033064.5(ATCAY):c.*3332C>A
|
rs59578136
|
0.00165
|
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_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_018718.3(CEP41):c.*4594C>T
|
rs151309255
|
0.00159
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_001044385.3(TMEM237):c.*3855A>G
|
rs187328136
|
0.00156
|
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu)
|
rs193231165
|
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_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_015272.5(RPGRIP1L):c.-9C>T
|
rs779839225
|
0.00143
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)
|
rs139671268
|
0.00141
|
NM_001044385.3(TMEM237):c.*1382C>T
|
rs187040024
|
0.00140
|
NM_001044385.3(TMEM237):c.*3728A>G
|
rs555315551
|
0.00140
|
NM_033064.5(ATCAY):c.*1653G>T
|
rs543950349
|
0.00140
|
NM_001128178.3(NPHP1):c.*250C>T
|
rs150558683
|
0.00139
|
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)
|
rs146210288
|
0.00138
|
NM_018718.3(CEP41):c.*2389G>A
|
rs73152867
|
0.00138
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)
|
rs200161440
|
0.00131
|
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)
|
rs183168709
|
0.00129
|
NM_001077418.3(TMEM231):c.583-20A>T
|
rs375984875
|
0.00128
|
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)
|
rs148016417
|
0.00128
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_001382391.1(CSPP1):c.1245+15C>T
|
rs200874913
|
0.00125
|
NM_033064.5(ATCAY):c.1053G>A (p.Glu351=)
|
rs369876142
|
0.00125
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg)
|
rs186264635
|
0.00120
|
NM_001329943.3(KIAA0586):c.4430-6A>C
|
rs199732899
|
0.00118
|
NM_018718.3(CEP41):c.*4216C>T
|
rs187549864
|
0.00117
|
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=)
|
rs115059319
|
0.00116
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)
|
rs140526335
|
0.00115
|
NM_001044385.3(TMEM237):c.*564T>C
|
rs141560423
|
0.00113
|
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser)
|
rs200781463
|
0.00113
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001134831.2(AHI1):c.*1288T>C
|
rs886061103
|
0.00111
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_003383.5(VLDLR):c.-111C>T
|
rs374367278
|
0.00109
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
NM_015272.5(RPGRIP1L):c.*1482G>A
|
rs192765976
|
0.00108
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_033064.5(ATCAY):c.-198C>G
|
rs553381633
|
0.00106
|
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)
|
rs201181950
|
0.00105
|
NM_001329943.3(KIAA0586):c.1130-16A>C
|
rs187748315
|
0.00105
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly)
|
rs201316149
|
0.00101
|
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_015272.5(RPGRIP1L):c.3701+19A>C
|
rs199926524
|
0.00099
|
NM_001329943.3(KIAA0586):c.200-14C>A
|
rs373882617
|
0.00098
|
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=)
|
rs61738360
|
0.00098
|
NM_001329943.3(KIAA0586):c.340+15T>C
|
rs139305633
|
0.00096
|
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)
|
rs181413894
|
0.00096
|
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)
|
rs199608505
|
0.00096
|
NM_018718.3(CEP41):c.*4244C>G
|
rs544508687
|
0.00096
|
NM_033064.5(ATCAY):c.1106+10A>T
|
rs199991972
|
0.00096
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly)
|
rs146127619
|
0.00093
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)
|
rs201202020
|
0.00088
|
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=)
|
rs6147
|
0.00088
|
NM_018718.3(CEP41):c.*3541G>A
|
rs376434190
|
0.00088
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_018718.3(CEP41):c.*680G>A
|
rs146622910
|
0.00083
|
NM_018718.3(CEP41):c.*3856C>T
|
rs187532705
|
0.00082
|
NM_033064.5(ATCAY):c.*3203G>A
|
rs539627639
|
0.00081
|
NM_001382391.1(CSPP1):c.2539-12T>A
|
rs185726462
|
0.00080
|
NM_001382391.1(CSPP1):c.924-11G>A
|
rs149756527
|
0.00080
|
NM_018718.3(CEP41):c.*4908G>A
|
rs552988501
|
0.00080
|
NM_015272.5(RPGRIP1L):c.*1510G>A
|
rs140374059
|
0.00079
|
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val)
|
rs202073376
|
0.00078
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)
|
rs116313397
|
0.00077
|
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)
|
rs151163650
|
0.00076
|
NM_001134831.2(AHI1):c.*1146T>A
|
rs557989991
|
0.00076
|
NM_001382391.1(CSPP1):c.3470-20G>T
|
rs148896413
|
0.00076
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_033064.5(ATCAY):c.615C>A (p.Pro205=)
|
rs112563476
|
0.00073
|
NM_032856.5(WDR73):c.883+8C>T
|
rs200133030
|
0.00072
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg)
|
rs200158932
|
0.00071
|
NM_033064.5(ATCAY):c.-241C>T
|
rs376727951
|
0.00071
|
NM_015272.5(RPGRIP1L):c.*1309C>A
|
rs145688896
|
0.00068
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_033064.5(ATCAY):c.*2282C>T
|
rs759377240
|
0.00066
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val)
|
rs202130417
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_016464.5(TMEM138):c.*228C>G
|
rs536120944
|
0.00063
|
NM_015160.3(PMPCA):c.633+17G>A
|
rs142661443
|
0.00062
|
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr)
|
rs369748157
|
0.00061
|
NM_001329943.3(KIAA0586):c.1583+15G>A
|
rs201295491
|
0.00061
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_033064.5(ATCAY):c.36C>T (p.Asn12=)
|
rs368213837
|
0.00061
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_033064.5(ATCAY):c.*1427A>T
|
rs536842684
|
0.00060
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_016464.5(TMEM138):c.461G>A (p.Arg154His)
|
rs147966742
|
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_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_003383.5(VLDLR):c.468C>T (p.Pro156=)
|
rs2242105
|
0.00058
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_001378615.1(CC2D2A):c.*45G>C
|
rs372449768
|
0.00057
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs)
|
rs777199366
|
0.00056
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_001382391.1(CSPP1):c.1023-20del
|
rs550798896
|
0.00056
|
NM_016464.5(TMEM138):c.102T>A (p.Thr34=)
|
rs139387935
|
0.00056
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_001329943.3(KIAA0586):c.2944+8A>C
|
rs571616049
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)
|
rs143158234
|
0.00053
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)
|
rs115773578
|
0.00053
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_001382391.1(CSPP1):c.3157-15A>G
|
rs199558831
|
0.00052
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
NM_025114.4(CEP290):c.4705-18C>T
|
rs199751805
|
0.00052
|
NM_001044385.3(TMEM237):c.*1655G>A
|
rs1020619947
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_018718.3(CEP41):c.*2481T>A
|
rs528289176
|
0.00051
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)
|
rs376795880
|
0.00049
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val)
|
rs61745095
|
0.00048
|
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=)
|
rs374601841
|
0.00048
|
NM_015272.5(RPGRIP1L):c.-62C>T
|
rs562413151
|
0.00048
|
NM_018718.3(CEP41):c.*2896G>A
|
rs147207980
|
0.00048
|
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=)
|
rs41300574
|
0.00047
|
NM_018718.3(CEP41):c.*1534T>C
|
rs149912245
|
0.00047
|
NM_018718.3(CEP41):c.*1567A>C
|
rs139085191
|
0.00047
|
NM_018718.3(CEP41):c.*1981G>A
|
rs538682192
|
0.00047
|
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)
|
rs754340855
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_018718.3(CEP41):c.*4595G>A
|
rs117814753
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_001044385.3(TMEM237):c.*2960C>A
|
rs188637429
|
0.00045
|
NM_025114.3(CEP290):c.-235T>G
|
rs569632834
|
0.00045
|
NM_003383.5(VLDLR):c.-122T>C
|
rs886063802
|
0.00044
|
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_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
NM_018718.3(CEP41):c.*3097T>C
|
rs929238589
|
0.00042
|
NM_001044385.3(TMEM237):c.*2141C>T
|
rs147652455
|
0.00041
|
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=)
|
rs370010097
|
0.00041
|
NM_001077418.3(TMEM231):c.309+13C>A
|
rs146945255
|
0.00041
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
|
rs551740936
|
0.00041
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)
|
rs145850728
|
0.00041
|
NM_153704.6(TMEM67):c.577-6A>G
|
rs191516556
|
0.00041
|
NM_001329943.3(KIAA0586):c.1129+11del
|
rs142477754
|
0.00040
|
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=)
|
rs370003497
|
0.00040
|
NM_018718.3(CEP41):c.*1385T>G
|
rs781845516
|
0.00040
|
NM_025114.4(CEP290):c.1360-4T>G
|
rs200328638
|
0.00040
|
NM_001044385.3(TMEM237):c.*3517A>G
|
rs563749617
|
0.00039
|
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)
|
rs371709760
|
0.00039
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp)
|
rs77860620
|
0.00039
|
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)
|
rs200127338
|
0.00039
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
NM_015272.5(RPGRIP1L):c.*270G>A
|
rs549065732
|
0.00039
|
NM_033064.4(ATCAY):c.-398C>A
|
rs186140929
|
0.00039
|
NM_033064.5(ATCAY):c.545-8C>T
|
rs370662253
|
0.00039
|
NM_033064.5(ATCAY):c.866+7C>T
|
rs140799527
|
0.00039
|
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu)
|
rs200535417
|
0.00038
|
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)
|
rs188583221
|
0.00037
|
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=)
|
rs536603405
|
0.00037
|
NM_015272.5(RPGRIP1L):c.*532T>C
|
rs184520009
|
0.00037
|
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)
|
rs568253718
|
0.00036
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu)
|
rs369060106
|
0.00036
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln)
|
rs202017613
|
0.00036
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=)
|
rs201235386
|
0.00035
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001329943.3(KIAA0586):c.3781+8A>G
|
rs368737744
|
0.00034
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)
|
rs199996939
|
0.00034
|
NM_033064.5(ATCAY):c.*3404C>T
|
rs540478786
|
0.00034
|
NM_001044385.3(TMEM237):c.554-10G>A
|
rs371503069
|
0.00033
|
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)
|
rs149887461
|
0.00033
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
NM_001329943.3(KIAA0586):c.2554-9C>T
|
rs202018500
|
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_018718.3(CEP41):c.*4599A>G
|
rs753024852
|
0.00033
|
NM_001044385.3(TMEM237):c.*1008A>G
|
rs777244164
|
0.00032
|
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His)
|
rs200446131
|
0.00032
|
NM_015272.5(RPGRIP1L):c.*1033G>A
|
rs145688122
|
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_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)
|
rs199624987
|
0.00031
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001329943.3(KIAA0586):c.3304+12A>G
|
rs370645135
|
0.00031
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_033064.5(ATCAY):c.426G>A (p.Thr142=)
|
rs373080859
|
0.00031
|
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)
|
rs370418884
|
0.00030
|
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)
|
rs191682790
|
0.00030
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)
|
rs11860753
|
0.00030
|
NM_015272.5(RPGRIP1L):c.3702-16A>G
|
rs372739127
|
0.00030
|
NM_018718.3(CEP41):c.*805A>G
|
rs145808545
|
0.00030
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
NM_001134831.2(AHI1):c.*793A>G
|
rs191324834
|
0.00029
|
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val)
|
rs562905902
|
0.00029
|
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)
|
rs147279669
|
0.00029
|
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val)
|
rs113040775
|
0.00029
|
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu)
|
rs139493302
|
0.00029
|
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr)
|
rs200148591
|
0.00029
|
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=)
|
rs139175231
|
0.00029
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_003383.5(VLDLR):c.*16T>C
|
rs150475109
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_018718.3(CEP41):c.423-18C>A
|
rs371925259
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_153704.6(TMEM67):c.2439+17C>T
|
rs375852558
|
0.00029
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
NM_033064.5(ATCAY):c.*681A>G
|
rs772852314
|
0.00028
|
NM_001044385.3(TMEM237):c.*987C>T
|
rs568084746
|
0.00027
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_001329943.3(KIAA0586):c.1254-13T>C
|
rs368443727
|
0.00027
|
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met)
|
rs369476930
|
0.00027
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_001044385.3(TMEM237):c.944-16T>C
|
rs369720243
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr)
|
rs147119902
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
NM_001382391.1(CSPP1):c.1094-11C>T
|
rs753835152
|
0.00026
|
NM_001382391.1(CSPP1):c.1497-3C>T
|
rs184342035
|
0.00026
|
NM_003383.5(VLDLR):c.*83C>T
|
rs755339168
|
0.00026
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
NM_003383.5(VLDLR):c.954C>T (p.Cys318=)
|
rs373943845
|
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_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val)
|
rs147046186
|
0.00026
|
NM_018718.3(CEP41):c.*392G>A
|
rs528501184
|
0.00026
|
NM_025114.3(CEP290):c.-295T>C
|
rs374616539
|
0.00026
|
NM_033064.5(ATCAY):c.*2668G>A
|
rs555029183
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_001382391.1(CSPP1):c.1497-13T>C
|
rs193022291
|
0.00025
|
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_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_001077418.3(TMEM231):c.139+42G>A
|
rs375718217
|
0.00024
|
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)
|
rs199776253
|
0.00024
|
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu)
|
rs151078477
|
0.00024
|
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)
|
rs199554737
|
0.00024
|
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala)
|
rs896789657
|
0.00024
|
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val)
|
rs201898983
|
0.00024
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)
|
rs374554530
|
0.00024
|
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=)
|
rs199962946
|
0.00024
|
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg)
|
rs370605967
|
0.00024
|
NM_003383.5(VLDLR):c.*48C>T
|
rs368949453
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr)
|
rs151250620
|
0.00024
|
NM_018718.3(CEP41):c.*2226G>A
|
rs115431091
|
0.00024
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln)
|
rs370037552
|
0.00024
|
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp)
|
rs373448317
|
0.00024
|
NM_033064.5(ATCAY):c.405G>A (p.Ala135=)
|
rs202077180
|
0.00024
|
NM_001128178.3(NPHP1):c.771+89A>G
|
rs139787582
|
0.00023
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_001382391.1(CSPP1):c.2539-5T>C
|
rs555281942
|
0.00023
|
NM_016464.5(TMEM138):c.128+7G>T
|
rs560650147
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
NM_001329943.3(KIAA0586):c.*2C>T
|
rs376691503
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_003383.5(VLDLR):c.2104+5C>T
|
rs201953557
|
0.00022
|
NM_015272.5(RPGRIP1L):c.*506T>G
|
rs778362441
|
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_033064.5(ATCAY):c.*212C>T
|
rs764132493
|
0.00022
|
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg)
|
rs200467447
|
0.00021
|
NM_001134831.2(AHI1):c.136-8C>T
|
rs370834009
|
0.00021
|
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)
|
rs370059449
|
0.00021
|
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)
|
rs188676684
|
0.00021
|
NM_001329943.3(KIAA0586):c.660C>T (p.His220=)
|
rs555609562
|
0.00021
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
NM_001382391.1(CSPP1):c.3156+6C>T
|
rs375100195
|
0.00021
|
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)
|
rs150924296
|
0.00021
|
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg)
|
rs201797415
|
0.00021
|
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)
|
rs142885301
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
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_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr)
|
rs200021943
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly)
|
rs780969097
|
0.00020
|
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile)
|
rs753810786
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_003383.5(VLDLR):c.738C>T (p.Cys246=)
|
rs116687040
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_001077418.3(TMEM231):c.140-15C>T
|
rs201518524
|
0.00019
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001077418.3(TMEM231):c.438+12C>T
|
rs1000442477
|
0.00019
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser)
|
rs377325998
|
0.00019
|
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=)
|
rs760162925
|
0.00019
|
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=)
|
rs767722181
|
0.00019
|
NM_001329943.3(KIAA0586):c.411-1363G>C
|
rs570489575
|
0.00019
|
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)
|
rs76626268
|
0.00019
|
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys)
|
rs199901120
|
0.00019
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
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_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_033064.5(ATCAY):c.478G>A (p.Gly160Arg)
|
rs374611192
|
0.00019
|
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)
|
rs138181219
|
0.00018
|
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)
|
rs151120697
|
0.00018
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln)
|
rs376338487
|
0.00018
|
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=)
|
rs372292129
|
0.00018
|
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu)
|
rs376549634
|
0.00018
|
NM_003383.5(VLDLR):c.582C>T (p.Gly194=)
|
rs148012674
|
0.00018
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_033064.5(ATCAY):c.*2289C>T
|
rs1025056968
|
0.00018
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)
|
rs201412708
|
0.00017
|
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=)
|
rs368904420
|
0.00017
|
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)
|
rs531527716
|
0.00017
|
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)
|
rs35948251
|
0.00017
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
NM_025114.4(CEP290):c.384T>C (p.Asp128=)
|
rs76267039
|
0.00017
|
NM_001044385.3(TMEM237):c.*3123T>A
|
rs866645983
|
0.00016
|
NM_001044385.3(TMEM237):c.79+8del
|
rs759786234
|
0.00016
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=)
|
rs371752653
|
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_001134831.2(AHI1):c.2231A>G (p.Lys744Arg)
|
rs373014753
|
0.00016
|
NM_001163809.2(WDR81):c.2304C>T (p.His768=)
|
rs994508298
|
0.00016
|
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=)
|
rs370408761
|
0.00016
|
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=)
|
rs190089844
|
0.00016
|
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=)
|
rs780038095
|
0.00016
|
NM_001329943.3(KIAA0586):c.411-1369A>G
|
rs1044844835
|
0.00016
|
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser)
|
rs377385599
|
0.00016
|
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala)
|
rs374262758
|
0.00016
|
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)
|
rs140241814
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_018718.3(CEP41):c.*2786A>C
|
rs782016580
|
0.00016
|
NM_018718.3(CEP41):c.*705G>A
|
rs782543502
|
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_032856.5(WDR73):c.354T>G (p.Asp118Glu)
|
rs201827208
|
0.00016
|
NM_033064.5(ATCAY):c.*1154G>A
|
rs528605076
|
0.00016
|
NM_033064.5(ATCAY):c.*728T>C
|
rs371256803
|
0.00016
|
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)
|
rs866563020
|
0.00015
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
0.00015
|
NM_001134831.2(AHI1):c.3588+15A>T
|
rs370223538
|
0.00015
|
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro)
|
rs149405514
|
0.00015
|
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys)
|
rs147844088
|
0.00015
|
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu)
|
rs747245461
|
0.00015
|
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val)
|
rs750969059
|
0.00015
|
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)
|
rs371608031
|
0.00015
|
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val)
|
rs375985758
|
0.00015
|
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
|
rs370004832
|
0.00015
|
NM_001009894.3(RLIG1):c.*594T>C
|
rs376016171
|
0.00014
|
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)
|
rs369010440
|
0.00014
|
NM_001134831.2(AHI1):c.189+12T>C
|
rs199617785
|
0.00014
|
NM_001173990.2(TMEM216):c.-86G>A
|
rs188478638
|
0.00014
|
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu)
|
rs187783779
|
0.00014
|
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser)
|
rs753633031
|
0.00014
|
NM_001329943.3(KIAA0586):c.3528-12T>G
|
rs553895000
|
0.00014
|
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg)
|
rs200627657
|
0.00014
|
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)
|
rs201929144
|
0.00014
|
NM_001329943.3(KIAA0586):c.4495+3790C>T
|
rs757410007
|
0.00014
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_001382391.1(CSPP1):c.-101A>G
|
rs200250731
|
0.00014
|
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn)
|
rs201417325
|
0.00014
|
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys)
|
rs199521775
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
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.1709A>G (p.Lys570Arg)
|
rs111459222
|
0.00014
|
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile)
|
rs141838831
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_018718.3(CEP41):c.*1328T>A
|
rs782132652
|
0.00014
|
NM_018718.3(CEP41):c.*4714T>C
|
rs782085608
|
0.00014
|
NM_018718.3(CEP41):c.757+12G>T
|
rs377656524
|
0.00014
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)
|
rs375966721
|
0.00014
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=)
|
rs121434349
|
0.00013
|
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)
|
rs375425462
|
0.00013
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_001173990.2(TMEM216):c.-135T>C
|
rs183785901
|
0.00013
|
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser)
|
rs776790149
|
0.00013
|
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=)
|
rs373201020
|
0.00013
|
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=)
|
rs527907908
|
0.00013
|
NM_001382391.1(CSPP1):c.1245+15dup
|
rs766672873
|
0.00013
|
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs)
|
rs748602759
|
0.00013
|
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met)
|
rs201142840
|
0.00013
|
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val)
|
rs202061089
|
0.00013
|
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile)
|
rs374199052
|
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_033064.5(ATCAY):c.*929G>A
|
rs1007947890
|
0.00013
|
NM_153704.6(TMEM67):c.192T>C (p.Pro64=)
|
rs150383995
|
0.00013
|
NM_001044385.3(TMEM237):c.*1151C>T
|
rs188943302
|
0.00012
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp)
|
rs373951297
|
0.00012
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val)
|
rs375643798
|
0.00012
|
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser)
|
rs370560098
|
0.00012
|
NM_001329943.3(KIAA0586):c.411-1476T>G
|
rs768486087
|
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_001382391.1(CSPP1):c.1325A>G (p.His442Arg)
|
rs373927950
|
0.00012
|
NM_001382391.1(CSPP1):c.1995C>T (p.His665=)
|
rs746724587
|
0.00012
|
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=)
|
rs369933035
|
0.00012
|
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=)
|
rs372836006
|
0.00012
|
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr)
|
rs183359461
|
0.00012
|
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)
|
rs375774377
|
0.00012
|
NM_016464.5(TMEM138):c.414C>T (p.Ala138=)
|
rs151094420
|
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_025114.4(CEP290):c.904A>G (p.Ile302Val)
|
rs764495570
|
0.00012
|
NM_033064.5(ATCAY):c.*2311G>A
|
rs186330129
|
0.00012
|
NM_033064.5(ATCAY):c.717G>A (p.Thr239=)
|
rs768556456
|
0.00012
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00012
|
NM_153704.6(TMEM67):c.312+13T>C
|
rs748077984
|
0.00012
|
NM_153704.6(TMEM67):c.312+14A>G
|
rs202135944
|
0.00012
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn)
|
rs143081480
|
0.00011
|
NM_001077418.3(TMEM231):c.583-9G>A
|
rs371734111
|
0.00011
|
NM_001134831.2(AHI1):c.135+19G>A
|
rs374973889
|
0.00011
|
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)
|
rs553366477
|
0.00011
|
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
|
rs199612496
|
0.00011
|
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser)
|
rs376681702
|
0.00011
|
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val)
|
rs200735064
|
0.00011
|
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile)
|
rs201393625
|
0.00011
|
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=)
|
rs780091990
|
0.00011
|
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=)
|
rs554948147
|
0.00011
|
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu)
|
rs368886216
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=)
|
rs548142175
|
0.00011
|
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala)
|
rs371720718
|
0.00011
|
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter)
|
rs200346372
|
0.00011
|
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu)
|
rs368550470
|
0.00011
|
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln)
|
rs371211802
|
0.00011
|
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln)
|
rs746518411
|
0.00011
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln)
|
rs758146224
|
0.00011
|
NM_015272.5(RPGRIP1L):c.*588A>G
|
rs894081042
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00011
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
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_016464.5(TMEM138):c.465G>A (p.Lys155=)
|
rs141851191
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
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_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_025114.4(CEP290):c.6960+9C>T
|
rs373226012
|
0.00011
|
NM_025114.4(CEP290):c.93C>T (p.Ser31=)
|
rs375955381
|
0.00011
|
NM_033064.5(ATCAY):c.*3376C>T
|
rs76339349
|
0.00011
|
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_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
|
rs576982977
|
0.00010
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg)
|
rs768608137
|
0.00010
|
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)
|
rs371944986
|
0.00010
|
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)
|
rs372030704
|
0.00010
|
NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp)
|
rs141491316
|
0.00010
|
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser)
|
rs200094677
|
0.00010
|
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala)
|
rs753972803
|
0.00010
|
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn)
|
rs372215354
|
0.00010
|
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=)
|
rs774903272
|
0.00010
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
0.00010
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His)
|
rs375083236
|
0.00010
|
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu)
|
rs372716023
|
0.00010
|
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser)
|
rs201720914
|
0.00010
|
NM_003383.5(VLDLR):c.*460G>A
|
rs550310153
|
0.00010
|
NM_003383.5(VLDLR):c.*63C>T
|
rs17848373
|
0.00010
|
NM_003383.5(VLDLR):c.-392C>T
|
rs867729388
|
0.00010
|
NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg)
|
rs150829393
|
0.00010
|
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)
|
rs573267388
|
0.00010
|
NM_015272.5(RPGRIP1L):c.*1207G>A
|
rs561880798
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
NM_016464.5(TMEM138):c.*92G>C
|
rs372997712
|
0.00010
|
NM_018718.3(CEP41):c.145+6del
|
rs782483563
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
|
rs782137799
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_032856.5(WDR73):c.33C>T (p.Ser11=)
|
rs376620550
|
0.00010
|
NM_033064.5(ATCAY):c.*1535G>A
|
rs886054422
|
0.00010
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
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_001077418.3(TMEM231):c.216G>T (p.Leu72=)
|
rs751840699
|
0.00009
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
|
rs375077045
|
0.00009
|
NM_001077418.3(TMEM231):c.798A>G (p.Val266=)
|
rs772364535
|
0.00009
|
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=)
|
rs758878104
|
0.00009
|
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)
|
rs146220435
|
0.00009
|
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr)
|
rs377676279
|
0.00009
|
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu)
|
rs1033790263
|
0.00009
|
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)
|
rs201771478
|
0.00009
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
0.00009
|
NM_001134831.2(AHI1):c.3588+1G>A
|
rs533296867
|
0.00009
|
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)
|
rs368077581
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001173990.2(TMEM216):c.-91G>A
|
rs557559653
|
0.00009
|
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr)
|
rs371424977
|
0.00009
|
NM_001329943.3(KIAA0586):c.3859-17C>T
|
rs764917881
|
0.00009
|
NM_001329943.3(KIAA0586):c.411-1359T>G
|
rs1051790402
|
0.00009
|
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)
|
rs750833160
|
0.00009
|
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=)
|
rs533752814
|
0.00009
|
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=)
|
rs550354835
|
0.00009
|
NM_001378615.1(CC2D2A):c.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_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
NM_001378615.1(CC2D2A):c.4314+12C>T
|
rs775304664
|
0.00009
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_001382391.1(CSPP1):c.1697+19G>T
|
rs563103826
|
0.00009
|
NM_001382391.1(CSPP1):c.2128+1G>A
|
rs199791452
|
0.00009
|
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu)
|
rs755021253
|
0.00009
|
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys)
|
rs763639767
|
0.00009
|
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser)
|
rs371681100
|
0.00009
|
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser)
|
rs201884732
|
0.00009
|
NM_001382391.1(CSPP1):c.3330+18C>A
|
rs372999075
|
0.00009
|
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln)
|
rs763390190
|
0.00009
|
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val)
|
rs188917565
|
0.00009
|
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr)
|
rs145635985
|
0.00009
|
NM_015272.5(RPGRIP1L):c.*1883C>G
|
rs886052086
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val)
|
rs140876280
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn)
|
rs769686672
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)
|
rs149781516
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln)
|
rs560144848
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)
|
rs367845452
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_016464.5(TMEM138):c.128+3G>T
|
rs754691659
|
0.00009
|
NM_016464.5(TMEM138):c.129-4A>G
|
rs372877379
|
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.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)
|
rs73192874
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_033064.5(ATCAY):c.*1632T>C
|
rs546859649
|
0.00009
|
NM_033064.5(ATCAY):c.*2742C>T
|
rs769121113
|
0.00009
|
NM_033064.5(ATCAY):c.*740G>A
|
rs569661909
|
0.00009
|
NM_033064.5(ATCAY):c.359-14C>T
|
rs753594529
|
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_000272.4(NPHP1):c.*460T>A
|
rs960612307
|
0.00008
|
NM_001044385.3(TMEM237):c.275-9T>C
|
rs749658028
|
0.00008
|
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His)
|
rs766289967
|
0.00008
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=)
|
rs190675549
|
0.00008
|
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=)
|
rs368984896
|
0.00008
|
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val)
|
rs181400417
|
0.00008
|
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile)
|
rs372259984
|
0.00008
|
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly)
|
rs376113173
|
0.00008
|
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile)
|
rs369067010
|
0.00008
|
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val)
|
rs200405048
|
0.00008
|
NM_001329943.3(KIAA0586):c.962-14A>T
|
rs200528557
|
0.00008
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)
|
rs375243763
|
0.00008
|
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys)
|
rs770075138
|
0.00008
|
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)
|
rs367949127
|
0.00008
|
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)
|
rs756423026
|
0.00008
|
NM_003383.5(VLDLR):c.639C>T (p.Asp213=)
|
rs779155452
|
0.00008
|
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile)
|
rs892392514
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp)
|
rs371560228
|
0.00008
|
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)
|
rs772697259
|
0.00008
|
NM_018718.3(CEP41):c.*3965A>G
|
rs781992723
|
0.00008
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
NM_033064.5(ATCAY):c.*838G>A
|
rs1306758402
|
0.00008
|
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val)
|
rs200145042
|
0.00008
|
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)
|
rs748221725
|
0.00008
|
NM_001077418.3(TMEM231):c.310-17C>T
|
rs752375895
|
0.00007
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=)
|
rs368594302
|
0.00007
|
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)
|
rs541349898
|
0.00007
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val)
|
rs373971733
|
0.00007
|
NM_001134831.2(AHI1):c.573A>C (p.Ala191=)
|
rs200993978
|
0.00007
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_001173990.3(TMEM216):c.*525T>G
|
rs982189283
|
0.00007
|
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=)
|
rs199623501
|
0.00007
|
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=)
|
rs534407882
|
0.00007
|
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys)
|
rs766453312
|
0.00007
|
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met)
|
rs370778483
|
0.00007
|
NM_001329943.3(KIAA0586):c.962-15A>C
|
rs767414174
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=)
|
rs539302524
|
0.00007
|
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg)
|
rs767318500
|
0.00007
|
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)
|
rs752648207
|
0.00007
|
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp)
|
rs1024300760
|
0.00007
|
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys)
|
rs185130908
|
0.00007
|
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
|
rs200546493
|
0.00007
|
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser)
|
rs181079660
|
0.00007
|
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg)
|
rs775754786
|
0.00007
|
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val)
|
rs775759544
|
0.00007
|
NM_003383.5(VLDLR):c.-207G>A
|
rs1429851395
|
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_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)
|
rs138777811
|
0.00007
|
NM_018294.6(CWF19L1):c.964+1G>A
|
rs587780326
|
0.00007
|
NM_018718.3(CEP41):c.*1284A>G
|
rs376297063
|
0.00007
|
NM_018718.3(CEP41):c.*1336A>G
|
rs781954428
|
0.00007
|
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
|
rs781835148
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_033064.5(ATCAY):c.*1409T>C
|
rs886054421
|
0.00007
|
NM_033064.5(ATCAY):c.*3136A>T
|
rs569189077
|
0.00007
|
NM_153704.6(TMEM67):c.1674+14A>T
|
rs769381574
|
0.00007
|
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg)
|
rs757105976
|
0.00007
|
NM_001044385.3(TMEM237):c.*1560C>T
|
rs983166297
|
0.00006
|
NM_001044385.3(TMEM237):c.*3992A>G
|
rs768173661
|
0.00006
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001044385.3(TMEM237):c.738G>A (p.Val246=)
|
rs199947989
|
0.00006
|
NM_001044385.3(TMEM237):c.74+15C>T
|
rs375401635
|
0.00006
|
NM_001044385.3(TMEM237):c.79+15T>C
|
rs182250754
|
0.00006
|
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)
|
rs368402335
|
0.00006
|
NM_001077418.3(TMEM231):c.210G>T (p.Val70=)
|
rs757361739
|
0.00006
|
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
|
rs762041003
|
0.00006
|
NM_001077418.3(TMEM231):c.582+6A>G
|
rs376300743
|
0.00006
|
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
|
rs776287219
|
0.00006
|
NM_001077418.3(TMEM231):c.665-19G>A
|
rs200581224
|
0.00006
|
NM_001128178.3(NPHP1):c.1761+5A>C
|
rs201030203
|
0.00006
|
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln)
|
rs748557384
|
0.00006
|
NM_001128178.3(NPHP1):c.69+20A>G
|
rs199941495
|
0.00006
|
NM_001134831.2(AHI1):c.10+13T>C
|
rs973391845
|
0.00006
|
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=)
|
rs185249049
|
0.00006
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00006
|
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala)
|
rs754609881
|
0.00006
|
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe)
|
rs745507530
|
0.00006
|
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)
|
rs367640472
|
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_001134831.2(AHI1):c.74A>G (p.Asp25Gly)
|
rs778792339
|
0.00006
|
NM_001134831.2(AHI1):c.853A>G (p.Met285Val)
|
rs200389118
|
0.00006
|
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)
|
rs144021458
|
0.00006
|
NM_001173990.3(TMEM216):c.*372C>T
|
rs565159932
|
0.00006
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
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_001329943.3(KIAA0586):c.1253+3A>G
|
rs762698768
|
0.00006
|
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His)
|
rs1214561950
|
0.00006
|
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=)
|
rs371990780
|
0.00006
|
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu)
|
rs376649351
|
0.00006
|
NM_001329943.3(KIAA0586):c.2060-17A>T
|
rs753287970
|
0.00006
|
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys)
|
rs755889131
|
0.00006
|
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=)
|
rs755369049
|
0.00006
|
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser)
|
rs201702546
|
0.00006
|
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys)
|
rs373649439
|
0.00006
|
NM_001329943.3(KIAA0586):c.411-1365C>T
|
rs905321611
|
0.00006
|
NM_001329943.3(KIAA0586):c.4496-3801G>A
|
rs575409268
|
0.00006
|
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr)
|
rs755205238
|
0.00006
|
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys)
|
rs573870218
|
0.00006
|
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=)
|
rs370332963
|
0.00006
|
NM_001329943.3(KIAA0586):c.807+3A>T
|
rs771308299
|
0.00006
|
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro)
|
rs553130671
|
0.00006
|
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys)
|
rs191232589
|
0.00006
|
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=)
|
rs552791846
|
0.00006
|
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)
|
rs200034384
|
0.00006
|
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)
|
rs267606709
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
0.00006
|
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr)
|
rs374330054
|
0.00006
|
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=)
|
rs370123119
|
0.00006
|
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr)
|
rs533227813
|
0.00006
|
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp)
|
rs757384412
|
0.00006
|
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr)
|
rs376353407
|
0.00006
|
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg)
|
rs371072368
|
0.00006
|
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)
|
rs374765060
|
0.00006
|
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=)
|
rs368660068
|
0.00006
|
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)
|
rs553988238
|
0.00006
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys)
|
rs114872818
|
0.00006
|
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=)
|
rs372577949
|
0.00006
|
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile)
|
rs17848383
|
0.00006
|
NM_003383.5(VLDLR):c.449-14C>G
|
rs370176704
|
0.00006
|
NM_015160.3(PMPCA):c.258G>C (p.Gln86His)
|
rs141305380
|
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_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)
|
rs760245904
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro)
|
rs150099624
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly)
|
rs794727129
|
0.00006
|
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys)
|
rs527539036
|
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_016464.5(TMEM138):c.81C>T (p.Phe27=)
|
rs149327827
|
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.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
NM_018718.3(CEP41):c.1032C>T (p.Ser344=)
|
rs189895981
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_018718.3(CEP41):c.407G>A (p.Arg136His)
|
rs546106020
|
0.00006
|
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
|
rs367931878
|
0.00006
|
NM_025114.4(CEP290):c.-41C>T
|
rs759820573
|
0.00006
|
NM_025114.4(CEP290):c.189T>C (p.Ala63=)
|
rs996908777
|
0.00006
|
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)
|
rs776360559
|
0.00006
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.5709+12A>G
|
rs371010287
|
0.00006
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)
|
rs556820066
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_025114.4(CEP290):c.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_032856.5(WDR73):c.267A>G (p.Leu89=)
|
rs772299478
|
0.00006
|
NM_033064.5(ATCAY):c.*2395G>A
|
rs550621569
|
0.00006
|
NM_033064.5(ATCAY):c.*3377G>A
|
rs975924890
|
0.00006
|
NM_033064.5(ATCAY):c.*3415G>A
|
rs546687056
|
0.00006
|
NM_033064.5(ATCAY):c.647+14C>T
|
rs755568668
|
0.00006
|
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)
|
rs192288680
|
0.00006
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
NM_153704.6(TMEM67):c.652-13T>C
|
rs376654537
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_153704.6(TMEM67):c.869+17T>A
|
rs767408748
|
0.00006
|
NM_001044385.3(TMEM237):c.*3385C>T
|
rs374762322
|
0.00005
|
NM_001044385.3(TMEM237):c.137-14C>G
|
rs760624801
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001077418.2(TMEM231):c.-62A>C
|
rs964025567
|
0.00005
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=)
|
rs769897831
|
0.00005
|
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)
|
rs534052463
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)
|
rs372637635
|
0.00005
|
NM_001134831.2(AHI1):c.2037-7T>C
|
rs539801988
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met)
|
rs200284291
|
0.00005
|
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=)
|
rs199982600
|
0.00005
|
NM_001329943.3(KIAA0586):c.411-1495T>C
|
rs1364313825
|
0.00005
|
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=)
|
rs200906427
|
0.00005
|
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=)
|
rs538659713
|
0.00005
|
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=)
|
rs762154780
|
0.00005
|
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser)
|
rs1054781365
|
0.00005
|
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser)
|
rs563531719
|
0.00005
|
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)
|
rs199909714
|
0.00005
|
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val)
|
rs201536815
|
0.00005
|
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile)
|
rs772097768
|
0.00005
|
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp)
|
rs759299114
|
0.00005
|
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu)
|
rs376210928
|
0.00005
|
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly)
|
rs559765139
|
0.00005
|
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln)
|
rs779204541
|
0.00005
|
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His)
|
rs375978348
|
0.00005
|
NM_001382391.1(CSPP1):c.2710+6G>A
|
rs369255080
|
0.00005
|
NM_001382391.1(CSPP1):c.3157-7C>T
|
rs750714624
|
0.00005
|
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys)
|
rs754226022
|
0.00005
|
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn)
|
rs768045623
|
0.00005
|
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn)
|
rs113347960
|
0.00005
|
NM_003383.5(VLDLR):c.921C>T (p.Ser307=)
|
rs777240049
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1029+3A>C
|
rs778583149
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)
|
rs139964287
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_015272.5(RPGRIP1L):c.3701+14G>A
|
rs370009233
|
0.00005
|
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu)
|
rs141574764
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val)
|
rs745506522
|
0.00005
|
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala)
|
rs764405866
|
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_018718.3(CEP41):c.146-11A>G
|
rs781817949
|
0.00005
|
NM_018718.3(CEP41):c.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
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.441+18T>C
|
rs756876705
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)
|
rs757738553
|
0.00005
|
NM_025114.4(CEP290):c.6358-4G>A
|
rs369154492
|
0.00005
|
NM_033064.5(ATCAY):c.*1801T>C
|
rs537102677
|
0.00005
|
NM_033064.5(ATCAY):c.*2265G>A
|
rs886054423
|
0.00005
|
NM_033064.5(ATCAY):c.*2996G>A
|
rs886054427
|
0.00005
|
NM_033064.5(ATCAY):c.*309C>T
|
rs541933098
|
0.00005
|
NM_033064.5(ATCAY):c.*958G>A
|
rs901656902
|
0.00005
|
NM_033064.5(ATCAY):c.370G>A (p.Val124Met)
|
rs147684273
|
0.00005
|
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His)
|
rs146130549
|
0.00005
|
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_001044385.3(TMEM237):c.1176A>G (p.Ser392=)
|
rs773344011
|
0.00004
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)
|
rs767711440
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
|
rs370790275
|
0.00004
|
NM_001044385.3(TMEM237):c.43-8C>T
|
rs759325746
|
0.00004
|
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met)
|
rs755252433
|
0.00004
|
NM_001044385.3(TMEM237):c.553+9A>T
|
rs568158023
|
0.00004
|
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
|
rs374042611
|
0.00004
|
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
|
rs200892635
|
0.00004
|
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val)
|
rs374399278
|
0.00004
|
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
|
rs775449384
|
0.00004
|
NM_001077418.3(TMEM231):c.139+27C>T
|
rs773052053
|
0.00004
|
NM_001077418.3(TMEM231):c.140-33C>T
|
rs901311435
|
0.00004
|
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)
|
rs774528098
|
0.00004
|
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=)
|
rs760694007
|
0.00004
|
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=)
|
rs778118263
|
0.00004
|
NM_001077418.3(TMEM231):c.309+12C>A
|
rs561475784
|
0.00004
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)
|
rs756494100
|
0.00004
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_001077418.3(TMEM231):c.665-10T>C
|
rs201237881
|
0.00004
|
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)
|
rs1020757759
|
0.00004
|
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)
|
rs770469234
|
0.00004
|
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)
|
rs373660568
|
0.00004
|
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His)
|
rs753292136
|
0.00004
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
NM_001128178.3(NPHP1):c.*238T>C
|
rs897567205
|
0.00004
|
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val)
|
rs577560349
|
0.00004
|
NM_001128178.3(NPHP1):c.1353-9C>A
|
rs376436841
|
0.00004
|
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr)
|
rs143231282
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg)
|
rs781531545
|
0.00004
|
NM_001128178.3(NPHP1):c.772-11A>T
|
rs189649819
|
0.00004
|
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)
|
rs794726975
|
0.00004
|
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)
|
rs375317119
|
0.00004
|
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
|
rs761804458
|
0.00004
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
|
rs863225147
|
0.00004
|
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr)
|
rs761596435
|
0.00004
|
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val)
|
rs763696602
|
0.00004
|
NM_001134831.2(AHI1):c.2492+15G>A
|
rs535243555
|
0.00004
|
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln)
|
rs371242173
|
0.00004
|
NM_001134831.2(AHI1):c.3329-20A>G
|
rs1004117268
|
0.00004
|
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser)
|
rs1020870112
|
0.00004
|
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)
|
rs200250333
|
0.00004
|
NM_001134831.2(AHI1):c.83G>A (p.Arg28His)
|
rs36115433
|
0.00004
|
NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=)
|
rs140513521
|
0.00004
|
NM_001173990.2(TMEM216):c.-264C>T
|
rs1365742655
|
0.00004
|
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)
|
rs368617773
|
0.00004
|
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)
|
rs541257103
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His)
|
rs773375756
|
0.00004
|
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser)
|
rs773524165
|
0.00004
|
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr)
|
rs568910724
|
0.00004
|
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=)
|
rs750393862
|
0.00004
|
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala)
|
rs774592908
|
0.00004
|
NM_001329943.3(KIAA0586):c.1885-11T>C
|
rs1344938086
|
0.00004
|
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg)
|
rs749825699
|
0.00004
|
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser)
|
rs967603971
|
0.00004
|
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His)
|
rs200490147
|
0.00004
|
NM_001329943.3(KIAA0586):c.271-11A>G
|
rs752733321
|
0.00004
|
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=)
|
rs369590767
|
0.00004
|
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu)
|
rs772256006
|
0.00004
|
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu)
|
rs1049863128
|
0.00004
|
NM_001329943.3(KIAA0586):c.3528-20A>G
|
rs759897107
|
0.00004
|
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr)
|
rs368136238
|
0.00004
|
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly)
|
rs761946256
|
0.00004
|
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=)
|
rs377467641
|
0.00004
|
NM_001329943.3(KIAA0586):c.3858+10G>A
|
rs1023641988
|
0.00004
|
NM_001329943.3(KIAA0586):c.4430-6dup
|
rs755622220
|
0.00004
|
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg)
|
rs374096160
|
0.00004
|
NM_001329943.3(KIAA0586):c.4495+3791G>A
|
rs924361010
|
0.00004
|
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=)
|
rs758764999
|
0.00004
|
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=)
|
rs369143869
|
0.00004
|
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala)
|
rs199837404
|
0.00004
|
NM_001329943.3(KIAA0586):c.723T>C (p.His241=)
|
rs373333959
|
0.00004
|
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)
|
rs775138548
|
0.00004
|
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn)
|
rs373797532
|
0.00004
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser)
|
rs1372095738
|
0.00004
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr)
|
rs371566997
|
0.00004
|
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=)
|
rs755838311
|
0.00004
|
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg)
|
rs763307442
|
0.00004
|
NM_001382391.1(CSPP1):c.1619-4T>C
|
rs774722380
|
0.00004
|
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=)
|
rs754822898
|
0.00004
|
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=)
|
rs201940935
|
0.00004
|
NM_001382391.1(CSPP1):c.1827+5T>C
|
rs897591892
|
0.00004
|
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe)
|
rs374318063
|
0.00004
|
NM_001382391.1(CSPP1):c.2128+16T>G
|
rs770694705
|
0.00004
|
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp)
|
rs778822396
|
0.00004
|
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys)
|
rs753718429
|
0.00004
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=)
|
rs754377738
|
0.00004
|
NM_001382391.1(CSPP1):c.2829-6C>A
|
rs202184488
|
0.00004
|
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)
|
rs750443075
|
0.00004
|
NM_001382391.1(CSPP1):c.3157-16A>G
|
rs374129705
|
0.00004
|
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)
|
rs768603321
|
0.00004
|
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln)
|
rs201972175
|
0.00004
|
NM_001382391.1(CSPP1):c.484-4A>G
|
rs142440392
|
0.00004
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly)
|
rs374744285
|
0.00004
|
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu)
|
rs761172555
|
0.00004
|
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn)
|
rs113092257
|
0.00004
|
NM_001382391.1(CSPP1):c.924-9G>A
|
rs199910808
|
0.00004
|
NM_003383.5(VLDLR):c.*281G>C
|
rs753515879
|
0.00004
|
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)
|
rs372963310
|
0.00004
|
NM_003383.5(VLDLR):c.2416+13C>T
|
rs200878136
|
0.00004
|
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr)
|
rs116082439
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly)
|
rs752128105
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1244-18G>A
|
rs923409583
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1582-11T>G
|
rs182981308
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
|
rs374098422
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)
|
rs769280712
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)
|
rs371763050
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)
|
rs201413825
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)
|
rs750930363
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)
|
rs989489575
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile)
|
rs763118625
|
0.00004
|
NM_016464.5(TMEM138):c.377-3C>T
|
rs774110963
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter)
|
rs201230582
|
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_018718.3(CEP41):c.1078C>T (p.Arg360Cys)
|
rs371812716
|
0.00004
|
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly)
|
rs782048004
|
0.00004
|
NM_018718.3(CEP41):c.213C>T (p.Ile71=)
|
rs370498782
|
0.00004
|
NM_018718.3(CEP41):c.277+16G>C
|
rs782272723
|
0.00004
|
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
|
rs1179996142
|
0.00004
|
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
|
rs200882016
|
0.00004
|
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
|
rs200709703
|
0.00004
|
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
|
rs782392521
|
0.00004
|
NM_025114.4(CEP290):c.-96C>T
|
rs528270888
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)
|
rs754736974
|
0.00004
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
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.4809T>C (p.Ala1603=)
|
rs372592245
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
NM_025114.4(CEP290):c.6271-15C>T
|
rs764251517
|
0.00004
|
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)
|
rs765709669
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_033064.5(ATCAY):c.*1761C>T
|
rs777283516
|
0.00004
|
NM_033064.5(ATCAY):c.*939G>A
|
rs886054419
|
0.00004
|
NM_033064.5(ATCAY):c.420C>T (p.Asp140=)
|
rs548256146
|
0.00004
|
NM_033064.5(ATCAY):c.957C>T (p.Cys319=)
|
rs370680121
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)
|
rs150332116
|
0.00004
|
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu)
|
rs780823805
|
0.00004
|
NM_153704.6(TMEM67):c.31A>G (p.Met11Val)
|
rs758761945
|
0.00004
|
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln)
|
rs769351856
|
0.00004
|
NM_001044385.3(TMEM237):c.*3697G>A
|
rs761856568
|
0.00003
|
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr)
|
rs776825848
|
0.00003
|
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
|
rs879874108
|
0.00003
|
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
|
rs957203033
|
0.00003
|
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
|
rs972949531
|
0.00003
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
|
rs771350638
|
0.00003
|
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
|
rs772074875
|
0.00003
|
NM_001044385.3(TMEM237):c.75-8C>T
|
rs1274569461
|
0.00003
|
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
|
rs768672107
|
0.00003
|
NM_001044385.3(TMEM237):c.869+4A>G
|
rs771107990
|
0.00003
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
NM_001077418.2(TMEM231):c.-46G>A
|
rs752769188
|
0.00003
|
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)
|
rs372775075
|
0.00003
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00003
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
0.00003
|
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn)
|
rs769321473
|
0.00003
|
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln)
|
rs1033608835
|
0.00003
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
NM_001077418.3(TMEM231):c.771-4A>C
|
rs199768195
|
0.00003
|
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=)
|
rs1412070252
|
0.00003
|
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=)
|
rs778531895
|
0.00003
|
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser)
|
rs200480007
|
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.1917T>C (p.Tyr639=)
|
rs764412921
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)
|
rs200017073
|
0.00003
|
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
|
rs200355875
|
0.00003
|
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr)
|
rs367875262
|
0.00003
|
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala)
|
rs201691998
|
0.00003
|
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=)
|
rs1016306200
|
0.00003
|
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile)
|
rs891027780
|
0.00003
|
NM_001134831.2(AHI1):c.931+8A>G
|
rs763944345
|
0.00003
|
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys)
|
rs928788426
|
0.00003
|
NM_001163809.2(WDR81):c.626C>A (p.Pro209His)
|
rs200343855
|
0.00003
|
NM_001173990.3(TMEM216):c.*303C>T
|
rs144613667
|
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_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser)
|
rs1168640996
|
0.00003
|
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro)
|
rs375472516
|
0.00003
|
NM_001329943.3(KIAA0586):c.1656+4T>C
|
rs368165741
|
0.00003
|
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=)
|
rs1356132325
|
0.00003
|
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn)
|
rs556030955
|
0.00003
|
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr)
|
rs752363556
|
0.00003
|
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln)
|
rs372212501
|
0.00003
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn)
|
rs770913768
|
0.00003
|
NM_001329943.3(KIAA0586):c.2944+13G>T
|
rs377092455
|
0.00003
|
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr)
|
rs767605168
|
0.00003
|
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=)
|
rs749756433
|
0.00003
|
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val)
|
rs777965178
|
0.00003
|
NM_001329943.3(KIAA0586):c.3781+20T>G
|
rs770866188
|
0.00003
|
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg)
|
rs767855931
|
0.00003
|
NM_001329943.3(KIAA0586):c.411-1486G>A
|
rs982449380
|
0.00003
|
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala)
|
rs962979142
|
0.00003
|
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=)
|
rs768806838
|
0.00003
|
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys)
|
rs375085808
|
0.00003
|
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr)
|
rs773960033
|
0.00003
|
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)
|
rs780520735
|
0.00003
|
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met)
|
rs747277541
|
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.2323G>A (p.Glu775Lys)
|
rs751808973
|
0.00003
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg)
|
rs763466980
|
0.00003
|
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)
|
rs529437224
|
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_001382391.1(CSPP1):c.1217C>T (p.Ala406Val)
|
rs775268714
|
0.00003
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys)
|
rs759265787
|
0.00003
|
NM_001382391.1(CSPP1):c.1698-15G>A
|
rs777747860
|
0.00003
|
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met)
|
rs375847469
|
0.00003
|
NM_001382391.1(CSPP1):c.1975+4C>T
|
rs779380282
|
0.00003
|
NM_001382391.1(CSPP1):c.2133T>C (p.His711=)
|
rs755593188
|
0.00003
|
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln)
|
rs763911288
|
0.00003
|
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln)
|
rs780070875
|
0.00003
|
NM_001382391.1(CSPP1):c.2711-15A>G
|
rs756159198
|
0.00003
|
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys)
|
rs374169543
|
0.00003
|
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr)
|
rs767140972
|
0.00003
|
NM_001382391.1(CSPP1):c.3221-14C>T
|
rs202201525
|
0.00003
|
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val)
|
rs199738369
|
0.00003
|
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)
|
rs201629827
|
0.00003
|
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe)
|
rs1421998303
|
0.00003
|
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=)
|
rs376215036
|
0.00003
|
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys)
|
rs781579090
|
0.00003
|
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys)
|
rs770271054
|
0.00003
|
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val)
|
rs199831541
|
0.00003
|
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser)
|
rs769726340
|
0.00003
|
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser)
|
rs371150001
|
0.00003
|
NM_003383.5(VLDLR):c.692G>A (p.Arg231His)
|
rs767529669
|
0.00003
|
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile)
|
rs1211858750
|
0.00003
|
NM_014875.3(KIF14):c.3661+1G>T
|
rs151249558
|
0.00003
|
NM_015272.5(RPGRIP1L):c.*119C>T
|
rs886052091
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)
|
rs750446830
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala)
|
rs202201818
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)
|
rs766404857
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
|
rs145572901
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg)
|
rs780023355
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2875-19A>G
|
rs370091137
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)
|
rs372404481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)
|
rs1030543863
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)
|
rs762140481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)
|
rs142387463
|
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_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
|
rs151174849
|
0.00003
|
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr)
|
rs772520453
|
0.00003
|
NM_016464.5(TMEM138):c.*264C>G
|
rs886048409
|
0.00003
|
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala)
|
rs755251825
|
0.00003
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
0.00003
|
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp)
|
rs750788154
|
0.00003
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)
|
rs772719574
|
0.00003
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
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.1040A>G (p.Asn347Ser)
|
rs782131552
|
0.00003
|
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
|
rs138907207
|
0.00003
|
NM_018718.3(CEP41):c.225C>T (p.Ser75=)
|
rs1402831101
|
0.00003
|
NM_018718.3(CEP41):c.33+9C>G
|
rs376019428
|
0.00003
|
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)
|
rs781848162
|
0.00003
|
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
|
rs782769549
|
0.00003
|
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
|
rs782083906
|
0.00003
|
NM_018718.3(CEP41):c.536G>A (p.Arg179His)
|
rs140259402
|
0.00003
|
NM_018718.3(CEP41):c.643-6T>A
|
rs782610948
|
0.00003
|
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)
|
rs782704307
|
0.00003
|
NM_018718.3(CEP41):c.725G>A (p.Arg242His)
|
rs191246968
|
0.00003
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)
|
rs782105300
|
0.00003
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1386C>T (p.Val462=)
|
rs886038689
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
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.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=)
|
rs777382672
|
0.00003
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
NM_025114.4(CEP290):c.442-20_442-19insA
|
rs772322663
|
0.00003
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)
|
rs371737956
|
0.00003
|
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)
|
rs572443869
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
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_032856.5(WDR73):c.518-10G>A
|
rs769933431
|
0.00003
|
NM_033064.5(ATCAY):c.*1217A>C
|
rs1459765640
|
0.00003
|
NM_033064.5(ATCAY):c.*3018C>T
|
rs887057996
|
0.00003
|
NM_033064.5(ATCAY):c.*420C>T
|
rs1044796308
|
0.00003
|
NM_033064.5(ATCAY):c.*512G>A
|
rs964128076
|
0.00003
|
NM_033064.5(ATCAY):c.-170C>A
|
rs1034699695
|
0.00003
|
NM_033064.5(ATCAY):c.1002C>T (p.Ser334=)
|
rs767813874
|
0.00003
|
NM_033064.5(ATCAY):c.283G>A (p.Val95Met)
|
rs1381590154
|
0.00003
|
NM_033064.5(ATCAY):c.568G>A (p.Ala190Thr)
|
rs537155754
|
0.00003
|
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)
|
rs758803102
|
0.00003
|
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys)
|
rs375719305
|
0.00003
|
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly)
|
rs372886148
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)
|
rs766782158
|
0.00003
|
NM_001044385.3(TMEM237):c.137-3T>C
|
rs540193518
|
0.00002
|
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
|
rs1269827788
|
0.00002
|
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser)
|
rs372581479
|
0.00002
|
NM_001044385.3(TMEM237):c.274+18G>A
|
rs762194214
|
0.00002
|
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu)
|
rs17856844
|
0.00002
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
|
rs754056989
|
0.00002
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NM_001044385.3(TMEM237):c.75-7G>A
|
rs1443411958
|
0.00002
|
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
|
rs934193386
|
0.00002
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
NM_001077418.3(TMEM231):c.-17G>A
|
rs768513169
|
0.00002
|
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)
|
rs1197109885
|
0.00002
|
NM_001077418.3(TMEM231):c.139+17C>T
|
rs759518508
|
0.00002
|
NM_001077418.3(TMEM231):c.140-35C>T
|
rs750621210
|
0.00002
|
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)
|
rs771783989
|
0.00002
|
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)
|
rs753709447
|
0.00002
|
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
|
rs774091057
|
0.00002
|
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)
|
rs775968168
|
0.00002
|
NM_001077418.3(TMEM231):c.309+20G>T
|
rs1186787656
|
0.00002
|
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=)
|
rs774761408
|
0.00002
|
NM_001077418.3(TMEM231):c.456G>A (p.Val152=)
|
rs571562822
|
0.00002
|
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)
|
rs768932063
|
0.00002
|
NM_001077418.3(TMEM231):c.582+9G>A
|
rs1266194059
|
0.00002
|
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val)
|
rs778298588
|
0.00002
|
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys)
|
rs374279951
|
0.00002
|
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)
|
rs775383043
|
0.00002
|
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu)
|
rs761280513
|
0.00002
|
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)
|
rs770715825
|
0.00002
|
NM_001128178.3(NPHP1):c.1434C>T (p.His478=)
|
rs148809478
|
0.00002
|
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly)
|
rs755592231
|
0.00002
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)
|
rs1266229950
|
0.00002
|
NM_001128178.3(NPHP1):c.1643-3C>T
|
rs202167187
|
0.00002
|
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)
|
rs753549193
|
0.00002
|
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys)
|
rs762244069
|
0.00002
|
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)
|
rs769509705
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln)
|
rs751387472
|
0.00002
|
NM_001134831.2(AHI1):c.*1426A>T
|
rs886061101
|
0.00002
|
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg)
|
rs539194432
|
0.00002
|
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
|
rs371835751
|
0.00002
|
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser)
|
rs773892320
|
0.00002
|
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp)
|
rs748010693
|
0.00002
|
NM_001134831.2(AHI1):c.191C>A (p.Pro64His)
|
rs574938408
|
0.00002
|
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)
|
rs1445681647
|
0.00002
|
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala)
|
rs372012542
|
0.00002
|
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln)
|
rs775785006
|
0.00002
|
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg)
|
rs1387769677
|
0.00002
|
NM_001134831.2(AHI1):c.2623+12T>C
|
rs763402338
|
0.00002
|
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu)
|
rs1170550561
|
0.00002
|
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)
|
rs750383545
|
0.00002
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
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_001134831.2(AHI1):c.3588G>A (p.Glu1196=)
|
rs201791936
|
0.00002
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu)
|
rs773359044
|
0.00002
|
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu)
|
rs746252411
|
0.00002
|
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=)
|
rs760895795
|
0.00002
|
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)
|
rs886540540
|
0.00002
|
NM_001173990.3(TMEM216):c.*335G>A
|
rs886048414
|
0.00002
|
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)
|
rs1441727203
|
0.00002
|
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)
|
rs147267631
|
0.00002
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu)
|
rs1251319519
|
0.00002
|
NM_001244189.2(KIAA0586):c.9+14C>T
|
rs1036728165
|
0.00002
|
NM_001244189.2(KIAA0586):c.9+1G>A
|
rs1490434047
|
0.00002
|
NM_001329943.3(KIAA0586):c.1130-14C>G
|
rs1457711769
|
0.00002
|
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)
|
rs772739103
|
0.00002
|
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala)
|
rs780301208
|
0.00002
|
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His)
|
rs749710241
|
0.00002
|
NM_001329943.3(KIAA0586):c.1656+7C>A
|
rs777449141
|
0.00002
|
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys)
|
rs1040832003
|
0.00002
|
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg)
|
rs758553529
|
0.00002
|
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg)
|
rs372160214
|
0.00002
|
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp)
|
rs770532816
|
0.00002
|
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn)
|
rs745459956
|
0.00002
|
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu)
|
rs762324359
|
0.00002
|
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val)
|
rs752597351
|
0.00002
|
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)
|
rs1064793157
|
0.00002
|
NM_001329943.3(KIAA0586):c.2634+4A>G
|
rs1373493143
|
0.00002
|
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn)
|
rs780403471
|
0.00002
|
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr)
|
rs757075176
|
0.00002
|
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val)
|
rs778611816
|
0.00002
|
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser)
|
rs1287641719
|
0.00002
|
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly)
|
rs368583200
|
0.00002
|
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=)
|
rs769869324
|
0.00002
|
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)
|
rs540255320
|
0.00002
|
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn)
|
rs780444812
|
0.00002
|
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly)
|
rs747213685
|
0.00002
|
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala)
|
rs773967297
|
0.00002
|
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=)
|
rs1031513625
|
0.00002
|
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val)
|
rs752970542
|
0.00002
|
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)
|
rs373763986
|
0.00002
|
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)
|
rs776003330
|
0.00002
|
NM_001329943.3(KIAA0586):c.3782-18T>C
|
rs1430875009
|
0.00002
|
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=)
|
rs113191202
|
0.00002
|
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=)
|
rs1375416810
|
0.00002
|
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg)
|
rs554032625
|
0.00002
|
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser)
|
rs776582851
|
0.00002
|
NM_001329943.3(KIAA0586):c.411-1420A>G
|
rs1037899594
|
0.00002
|
NM_001329943.3(KIAA0586):c.4169-8G>C
|
rs766302985
|
0.00002
|
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val)
|
rs890327400
|
0.00002
|
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln)
|
rs746312329
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser)
|
rs757161449
|
0.00002
|
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile)
|
rs779264142
|
0.00002
|
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)
|
rs543650388
|
0.00002
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
|
rs541135799
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
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.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)
|
rs748886997
|
0.00002
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
|
rs745599580
|
0.00002
|
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg)
|
rs886059186
|
0.00002
|
NM_001382391.1(CSPP1):c.-10-4A>T
|
rs762753703
|
0.00002
|
NM_001382391.1(CSPP1):c.-96C>T
|
rs751458139
|
0.00002
|
NM_001382391.1(CSPP1):c.1188-16del
|
rs773422166
|
0.00002
|
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala)
|
rs533327313
|
0.00002
|
NM_001382391.1(CSPP1):c.1618+16G>A
|
rs768004861
|
0.00002
|
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr)
|
rs373749366
|
0.00002
|
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr)
|
rs781313362
|
0.00002
|
NM_001382391.1(CSPP1):c.1976-2A>G
|
rs1320076769
|
0.00002
|
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp)
|
rs746165769
|
0.00002
|
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=)
|
rs762725926
|
0.00002
|
NM_001382391.1(CSPP1):c.2128+10C>A
|
rs769248386
|
0.00002
|
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)
|
rs771203308
|
0.00002
|
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp)
|
rs369228037
|
0.00002
|
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=)
|
rs758218835
|
0.00002
|
NM_001382391.1(CSPP1):c.2392-14T>C
|
rs781185001
|
0.00002
|
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr)
|
rs751572039
|
0.00002
|
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His)
|
rs376724794
|
0.00002
|
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His)
|
rs775629891
|
0.00002
|
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=)
|
rs759957152
|
0.00002
|
NM_001382391.1(CSPP1):c.2968+10T>C
|
rs374325149
|
0.00002
|
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu)
|
rs755275549
|
0.00002
|
NM_001382391.1(CSPP1):c.3221-19C>T
|
rs750846829
|
0.00002
|
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser)
|
rs200930857
|
0.00002
|
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp)
|
rs759630451
|
0.00002
|
NM_001382391.1(CSPP1):c.3330+11G>A
|
rs1339355378
|
0.00002
|
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter)
|
rs201261521
|
0.00002
|
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=)
|
rs552763349
|
0.00002
|
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg)
|
rs527426163
|
0.00002
|
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=)
|
rs749332092
|
0.00002
|
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His)
|
rs1386679081
|
0.00002
|
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs)
|
rs750696284
|
0.00002
|
NM_001382391.1(CSPP1):c.483+10G>C
|
rs758310938
|
0.00002
|
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser)
|
rs765332591
|
0.00002
|
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys)
|
rs749026327
|
0.00002
|
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=)
|
rs1395679668
|
0.00002
|
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys)
|
rs114953032
|
0.00002
|
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His)
|
rs781737308
|
0.00002
|
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg)
|
rs377496424
|
0.00002
|
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=)
|
rs759906585
|
0.00002
|
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=)
|
rs750069772
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_003383.5(VLDLR):c.*192C>T
|
rs763576733
|
0.00002
|
NM_003383.5(VLDLR):c.*21C>T
|
rs776834603
|
0.00002
|
NM_003383.5(VLDLR):c.-121C>T
|
rs886063803
|
0.00002
|
NM_003383.5(VLDLR):c.-154C>G
|
rs985479340
|
0.00002
|
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr)
|
rs778029251
|
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.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)
|
rs371028848
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)
|
rs966605945
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)
|
rs201131571
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)
|
rs759934290
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-4C>A
|
rs774628905
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)
|
rs146484603
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)
|
rs376330325
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3835+3A>G
|
rs769218955
|
0.00002
|
NM_016464.5(TMEM138):c.*548G>A
|
rs1565080891
|
0.00002
|
NM_016464.5(TMEM138):c.128+8C>T
|
rs769334895
|
0.00002
|
NM_016464.5(TMEM138):c.136G>C (p.Asp46His)
|
rs375503806
|
0.00002
|
NM_016464.5(TMEM138):c.192C>T (p.Phe64=)
|
rs199841349
|
0.00002
|
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys)
|
rs202210746
|
0.00002
|
NM_016464.5(TMEM138):c.426C>T (p.Gly142=)
|
rs781330063
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)
|
rs557678962
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
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.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
|
rs374440977
|
0.00002
|
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
|
rs201490201
|
0.00002
|
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
|
rs139909606
|
0.00002
|
NM_018718.3(CEP41):c.205C>T (p.Leu69=)
|
rs144793783
|
0.00002
|
NM_018718.3(CEP41):c.277+19G>A
|
rs377242873
|
0.00002
|
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
|
rs781914996
|
0.00002
|
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe)
|
rs782265732
|
0.00002
|
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
|
rs527896814
|
0.00002
|
NM_018718.3(CEP41):c.664A>G (p.Ile222Val)
|
rs560824415
|
0.00002
|
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
|
rs782303641
|
0.00002
|
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu)
|
rs782241458
|
0.00002
|
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu)
|
rs782704918
|
0.00002
|
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)
|
rs763992407
|
0.00002
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)
|
rs752942122
|
0.00002
|
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp)
|
rs372963403
|
0.00002
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp)
|
rs750466529
|
0.00002
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_025114.4(CEP290):c.4030-14A>G
|
rs910563325
|
0.00002
|
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)
|
rs377614744
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=)
|
rs778794581
|
0.00002
|
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=)
|
rs747996508
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.549C>T (p.Tyr183=)
|
rs781004914
|
0.00002
|
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
|
rs752046733
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
NM_025114.4(CEP290):c.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu)
|
rs887302155
|
0.00002
|
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)
|
rs797044992
|
0.00002
|
NM_033064.5(ATCAY):c.*1167G>A
|
rs751398427
|
0.00002
|
NM_033064.5(ATCAY):c.*1276G>A
|
rs974409532
|
0.00002
|
NM_033064.5(ATCAY):c.544+6dup
|
rs749475336
|
0.00002
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln)
|
rs776677392
|
0.00002
|
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
|
rs149475825
|
0.00002
|
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)
|
rs751517725
|
0.00002
|
NM_153704.6(TMEM67):c.2440-6T>C
|
rs532418578
|
0.00002
|
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val)
|
rs758944470
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys)
|
rs768183184
|
0.00002
|
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly)
|
rs115766095
|
0.00002
|
NM_153704.6(TMEM67):c.979-16C>T
|
rs757127826
|
0.00002
|
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.101C>T (p.Pro34Leu)
|
rs1559590115
|
0.00001
|
NM_001044385.3(TMEM237):c.1038-6T>G
|
rs758523904
|
0.00001
|
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp)
|
rs747158935
|
0.00001
|
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val)
|
rs1437714395
|
0.00001
|
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=)
|
rs770907860
|
0.00001
|
NM_001044385.3(TMEM237):c.1159+20G>A
|
rs1162670210
|
0.00001
|
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
|
rs373445814
|
0.00001
|
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)
|
rs1317494328
|
0.00001
|
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=)
|
rs747915597
|
0.00001
|
NM_001044385.3(TMEM237):c.136+17T>C
|
rs1461794959
|
0.00001
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
NM_001044385.3(TMEM237):c.136+7C>T
|
rs768764111
|
0.00001
|
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp)
|
rs779250127
|
0.00001
|
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)
|
rs1687223389
|
0.00001
|
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
|
rs1186656902
|
0.00001
|
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
|
rs759392151
|
0.00001
|
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
|
rs772680401
|
0.00001
|
NM_001044385.3(TMEM237):c.42+15G>A
|
rs1461749315
|
0.00001
|
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser)
|
rs750312169
|
0.00001
|
NM_001044385.3(TMEM237):c.43-6C>T
|
rs886974025
|
0.00001
|
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
|
rs184256195
|
0.00001
|
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
|
rs771052304
|
0.00001
|
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys)
|
rs762678333
|
0.00001
|
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
|
rs1466574515
|
0.00001
|
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=)
|
rs754056989
|
0.00001
|
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His)
|
rs186216206
|
0.00001
|
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro)
|
rs373956551
|
0.00001
|
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
|
rs773685442
|
0.00001
|
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg)
|
rs749330370
|
0.00001
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
0.00001
|
NM_001044385.3(TMEM237):c.677+1G>A
|
rs793888505
|
0.00001
|
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=)
|
rs370681829
|
0.00001
|
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser)
|
rs769694232
|
0.00001
|
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
|
rs759814109
|
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.869+5T>C
|
rs530769303
|
0.00001
|
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val)
|
rs773512396
|
0.00001
|
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
|
rs1209527419
|
0.00001
|
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
|
rs745540263
|
0.00001
|
NM_001044385.3(TMEM237):c.943+5G>A
|
rs779322966
|
0.00001
|
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
|
rs576586379
|
0.00001
|
NM_001077418.2(TMEM231):c.-44C>A
|
rs1419518232
|
0.00001
|
NM_001077418.3(TMEM231):c.-12C>G
|
rs745498623
|
0.00001
|
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)
|
rs1597051521
|
0.00001
|
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp)
|
rs750674092
|
0.00001
|
NM_001077418.3(TMEM231):c.139+23G>A
|
rs770598456
|
0.00001
|
NM_001077418.3(TMEM231):c.139+24C>T
|
rs746632596
|
0.00001
|
NM_001077418.3(TMEM231):c.139+25C>T
|
rs1474874368
|
0.00001
|
NM_001077418.3(TMEM231):c.139+39G>T
|
rs1448302846
|
0.00001
|
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=)
|
rs1444231443
|
0.00001
|
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg)
|
rs766492182
|
0.00001
|
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)
|
rs541195377
|
0.00001
|
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val)
|
rs1309156955
|
0.00001
|
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
|
rs759954710
|
0.00001
|
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg)
|
rs1255071095
|
0.00001
|
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
|
rs1202833405
|
0.00001
|
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val)
|
rs750935858
|
0.00001
|
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser)
|
rs566395744
|
0.00001
|
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)
|
rs778407563
|
0.00001
|
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=)
|
rs751631216
|
0.00001
|
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg)
|
rs763194213
|
0.00001
|
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=)
|
rs748111030
|
0.00001
|
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)
|
rs543122080
|
0.00001
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
NM_001077418.3(TMEM231):c.583-10C>T
|
rs774265542
|
0.00001
|
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met)
|
rs745485432
|
0.00001
|
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=)
|
rs959165450
|
0.00001
|
NM_001077418.3(TMEM231):c.665-3C>T
|
rs780063686
|
0.00001
|
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile)
|
rs746055228
|
0.00001
|
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
|
rs750043051
|
0.00001
|
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)
|
rs746025189
|
0.00001
|
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=)
|
rs746685376
|
0.00001
|
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu)
|
rs1230743826
|
0.00001
|
NM_001077418.3(TMEM231):c.770+18G>T
|
rs1413880610
|
0.00001
|
NM_001077418.3(TMEM231):c.771-6C>A
|
rs1160382019
|
0.00001
|
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)
|
rs768632156
|
0.00001
|
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
|
rs759314500
|
0.00001
|
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)
|
rs746970206
|
0.00001
|
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)
|
rs1435643293
|
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.-17G>A
|
rs566875282
|
0.00001
|
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu)
|
rs780706360
|
0.00001
|
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg)
|
rs746482479
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)
|
rs1186755904
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys)
|
rs1283995363
|
0.00001
|
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)
|
rs951115963
|
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.1716+1G>T
|
rs1233478832
|
0.00001
|
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)
|
rs543675502
|
0.00001
|
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
|
rs1311042980
|
0.00001
|
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr)
|
rs1212945698
|
0.00001
|
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu)
|
rs760772706
|
0.00001
|
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
|
rs767719020
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn)
|
rs781291281
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)
|
rs548684868
|
0.00001
|
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)
|
rs143163969
|
0.00001
|
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu)
|
rs753605280
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001128178.3(NPHP1):c.771+3G>A
|
rs1365022834
|
0.00001
|
NM_001128178.3(NPHP1):c.771+78G>A
|
rs762350912
|
0.00001
|
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr)
|
rs751003854
|
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.1152-2A>G
|
rs753085250
|
0.00001
|
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp)
|
rs183862577
|
0.00001
|
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys)
|
rs561883150
|
0.00001
|
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys)
|
rs777952691
|
0.00001
|
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val)
|
rs533707253
|
0.00001
|
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)
|
rs387907003
|
0.00001
|
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg)
|
rs766231229
|
0.00001
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
NM_001134831.2(AHI1):c.1683G>A (p.Val561=)
|
rs757056964
|
0.00001
|
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys)
|
rs763970632
|
0.00001
|
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)
|
rs886038629
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001134831.2(AHI1):c.190-17A>G
|
rs762843841
|
0.00001
|
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met)
|
rs780336496
|
0.00001
|
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser)
|
rs1257057591
|
0.00001
|
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys)
|
rs1291908829
|
0.00001
|
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)
|
rs541041911
|
0.00001
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
0.00001
|
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala)
|
rs780154667
|
0.00001
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
NM_001134831.2(AHI1):c.2172del (p.Trp725fs)
|
rs755407014
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
|
rs376754552
|
0.00001
|
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu)
|
rs1348260638
|
0.00001
|
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp)
|
rs1362092820
|
0.00001
|
NM_001134831.2(AHI1):c.2492+3A>G
|
rs951268770
|
0.00001
|
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys)
|
rs767879919
|
0.00001
|
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
|
rs1380121460
|
0.00001
|
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val)
|
rs759069413
|
0.00001
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)
|
rs368788993
|
0.00001
|
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=)
|
rs765434425
|
0.00001
|
NM_001134831.2(AHI1):c.2765-9T>C
|
rs374852342
|
0.00001
|
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)
|
rs538724792
|
0.00001
|
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His)
|
rs1301526139
|
0.00001
|
NM_001134831.2(AHI1):c.279C>T (p.Ser93=)
|
rs1205189543
|
0.00001
|
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)
|
rs775305093
|
0.00001
|
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)
|
rs373490556
|
0.00001
|
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)
|
rs760858792
|
0.00001
|
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg)
|
rs1183310371
|
0.00001
|
NM_001134831.2(AHI1):c.2962-13G>A
|
rs927158679
|
0.00001
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00001
|
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr)
|
rs1261277645
|
0.00001
|
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr)
|
rs749649946
|
0.00001
|
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
|
rs756637497
|
0.00001
|
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)
|
rs776053386
|
0.00001
|
NM_001134831.2(AHI1):c.3426+6T>A
|
rs1267329906
|
0.00001
|
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val)
|
rs766168872
|
0.00001
|
NM_001134831.2(AHI1):c.3485+6C>T
|
rs748866983
|
0.00001
|
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)
|
rs776098993
|
0.00001
|
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
|
rs140836078
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro)
|
rs770822998
|
0.00001
|
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys)
|
rs1245690441
|
0.00001
|
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr)
|
rs1032930574
|
0.00001
|
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met)
|
rs781286716
|
0.00001
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr)
|
rs759553258
|
0.00001
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)
|
rs1194329020
|
0.00001
|
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu)
|
rs992608564
|
0.00001
|
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)
|
rs563732828
|
0.00001
|
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln)
|
rs1203128651
|
0.00001
|
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr)
|
rs766140596
|
0.00001
|
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
|
rs138358708
|
0.00001
|
NM_001163809.2(WDR81):c.5179+6C>T
|
rs748777672
|
0.00001
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
NM_001173990.2(TMEM216):c.-242C>T
|
rs756981776
|
0.00001
|
NM_001173990.3(TMEM216):c.*377T>C
|
rs1260385076
|
0.00001
|
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
|
rs548299486
|
0.00001
|
NM_001173990.3(TMEM216):c.191del (p.Leu64fs)
|
rs1858737558
|
0.00001
|
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)
|
rs1287246452
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)
|
rs1057517512
|
0.00001
|
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)
|
rs1554972406
|
0.00001
|
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)
|
rs528921796
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)
|
rs774225426
|
0.00001
|
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)
|
rs367737418
|
0.00001
|
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)
|
rs528271337
|
0.00001
|
NM_001329943.3(KIAA0586):c.*10G>A
|
rs1280881561
|
0.00001
|
NM_001329943.3(KIAA0586):c.*24del
|
rs775748329
|
0.00001
|
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys)
|
rs781781110
|
0.00001
|
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met)
|
rs769423672
|
0.00001
|
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile)
|
rs771000156
|
0.00001
|
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr)
|
rs1406399353
|
0.00001
|
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=)
|
rs1283583747
|
0.00001
|
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp)
|
rs932782936
|
0.00001
|
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=)
|
rs779005063
|
0.00001
|
NM_001329943.3(KIAA0586):c.1253+4A>G
|
rs1182604650
|
0.00001
|
NM_001329943.3(KIAA0586):c.1254-7C>T
|
rs371116548
|
0.00001
|
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=)
|
rs574658488
|
0.00001
|
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=)
|
rs755857778
|
0.00001
|
NM_001329943.3(KIAA0586):c.1362+12A>G
|
rs374756414
|
0.00001
|
NM_001329943.3(KIAA0586):c.1363-18G>A
|
rs767847589
|
0.00001
|
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn)
|
rs757196467
|
0.00001
|
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile)
|
rs779792778
|
0.00001
|
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys)
|
rs746704306
|
0.00001
|
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys)
|
rs778123212
|
0.00001
|
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys)
|
rs1445118511
|
0.00001
|
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=)
|
rs527483829
|
0.00001
|
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His)
|
rs753917457
|
0.00001
|
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val)
|
rs556274091
|
0.00001
|
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys)
|
rs1173352052
|
0.00001
|
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu)
|
rs747120591
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656+11G>A
|
rs2040060841
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)
|
rs762081862
|
0.00001
|
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly)
|
rs1020004939
|
0.00001
|
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu)
|
rs1297075839
|
0.00001
|
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr)
|
rs1039498791
|
0.00001
|
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=)
|
rs1202169940
|
0.00001
|
NM_001329943.3(KIAA0586):c.1885-2A>G
|
rs1431898844
|
0.00001
|
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys)
|
rs1595193868
|
0.00001
|
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln)
|
rs1047721846
|
0.00001
|
NM_001329943.3(KIAA0586):c.199+6T>A
|
rs764690540
|
0.00001
|
NM_001329943.3(KIAA0586):c.200-15C>T
|
rs764593812
|
0.00001
|
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=)
|
rs185266107
|
0.00001
|
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=)
|
rs750714192
|
0.00001
|
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=)
|
rs559438142
|
0.00001
|
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)
|
rs749475936
|
0.00001
|
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln)
|
rs547990270
|
0.00001
|
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr)
|
rs371583234
|
0.00001
|
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala)
|
rs558410911
|
0.00001
|
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val)
|
rs1200934389
|
0.00001
|
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly)
|
rs373601253
|
0.00001
|
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu)
|
rs1190897774
|
0.00001
|
NM_001329943.3(KIAA0586):c.2255-11A>G
|
rs752712583
|
0.00001
|
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=)
|
rs200937470
|
0.00001
|
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys)
|
rs1267499182
|
0.00001
|
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg)
|
rs773759282
|
0.00001
|
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn)
|
rs922088604
|
0.00001
|
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser)
|
rs955530356
|
0.00001
|
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)
|
rs1410766981
|
0.00001
|
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=)
|
rs751246498
|
0.00001
|
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg)
|
rs377409718
|
0.00001
|
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser)
|
rs377023593
|
0.00001
|
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu)
|
rs1338718674
|
0.00001
|
NM_001329943.3(KIAA0586):c.2634+20A>G
|
rs546773198
|
0.00001
|
NM_001329943.3(KIAA0586):c.2635-17G>T
|
rs1478236874
|
0.00001
|
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly)
|
rs770688785
|
0.00001
|
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp)
|
rs1261333772
|
0.00001
|
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser)
|
rs752882356
|
0.00001
|
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln)
|
rs537951340
|
0.00001
|
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu)
|
rs768032063
|
0.00001
|
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=)
|
rs776447854
|
0.00001
|
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=)
|
rs527601211
|
0.00001
|
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=)
|
rs746874985
|
0.00001
|
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu)
|
rs943207254
|
0.00001
|
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile)
|
rs368808852
|
0.00001
|
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn)
|
rs3783696
|
0.00001
|
NM_001329943.3(KIAA0586):c.2932_2944+4del
|
rs1278372009
|
0.00001
|
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His)
|
rs754818478
|
0.00001
|
NM_001329943.3(KIAA0586):c.2944+4A>C
|
rs372841738
|
0.00001
|
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys)
|
rs563109987
|
0.00001
|
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs)
|
rs1364954371
|
0.00001
|
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu)
|
rs369859399
|
0.00001
|
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile)
|
rs772489368
|
0.00001
|
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser)
|
rs766060506
|
0.00001
|
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=)
|
rs779554669
|
0.00001
|
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser)
|
rs373431045
|
0.00001
|
NM_001329943.3(KIAA0586):c.3304+19T>A
|
rs759164063
|
0.00001
|
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val)
|
rs773159825
|
0.00001
|
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn)
|
rs758962196
|
0.00001
|
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=)
|
rs765655962
|
0.00001
|
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser)
|
rs1413013409
|
0.00001
|
NM_001329943.3(KIAA0586):c.340+7G>T
|
rs763185199
|
0.00001
|
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly)
|
rs751729993
|
0.00001
|
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser)
|
rs755937342
|
0.00001
|
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn)
|
rs199517530
|
0.00001
|
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu)
|
rs1190269049
|
0.00001
|
NM_001329943.3(KIAA0586):c.3527+12C>T
|
rs1369279718
|
0.00001
|
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly)
|
rs910865335
|
0.00001
|
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=)
|
rs764114899
|
0.00001
|
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu)
|
rs539304161
|
0.00001
|
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=)
|
rs780785984
|
0.00001
|
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln)
|
rs560315226
|
0.00001
|
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=)
|
rs773464253
|
0.00001
|
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=)
|
rs1480788246
|
0.00001
|
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs)
|
rs1253807820
|
0.00001
|
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala)
|
rs201889432
|
0.00001
|
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=)
|
rs758690971
|
0.00001
|
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=)
|
rs1222178512
|
0.00001
|
NM_001329943.3(KIAA0586):c.3781+2T>C
|
rs1331480187
|
0.00001
|
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val)
|
rs1223415414
|
0.00001
|
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala)
|
rs1256817386
|
0.00001
|
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=)
|
rs755315601
|
0.00001
|
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=)
|
rs970331206
|
0.00001
|
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr)
|
rs1256644781
|
0.00001
|
NM_001329943.3(KIAA0586):c.3858+8A>G
|
rs370569855
|
0.00001
|
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg)
|
rs1019828731
|
0.00001
|
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His)
|
rs779179754
|
0.00001
|
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile)
|
rs1441855459
|
0.00001
|
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu)
|
rs966912655
|
0.00001
|
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser)
|
rs912168236
|
0.00001
|
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=)
|
rs1437021057
|
0.00001
|
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile)
|
rs775143643
|
0.00001
|
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)
|
rs1566903524
|
0.00001
|
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=)
|
rs757412652
|
0.00001
|
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val)
|
rs1446993944
|
0.00001
|
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr)
|
rs1188851321
|
0.00001
|
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu)
|
rs752429234
|
0.00001
|
NM_001329943.3(KIAA0586):c.411-1389C>T
|
rs1490162703
|
0.00001
|
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=)
|
rs372138430
|
0.00001
|
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp)
|
rs1015444951
|
0.00001
|
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=)
|
rs2044165528
|
0.00001
|
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn)
|
rs754191741
|
0.00001
|
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=)
|
rs900262881
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-1G>A
|
rs753649082
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-2A>G
|
rs763815640
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3777del
|
rs1237632090
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3778T>C
|
rs1022389517
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3785A>T
|
rs942756021
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3802G>A
|
rs541632685
|
0.00001
|
NM_001329943.3(KIAA0586):c.4496-3808A>C
|
rs181384924
|
0.00001
|
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=)
|
rs1476732636
|
0.00001
|
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=)
|
rs371910625
|
0.00001
|
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu)
|
rs767347007
|
0.00001
|
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile)
|
rs540188519
|
0.00001
|
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met)
|
rs1260723288
|
0.00001
|
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro)
|
rs758886732
|
0.00001
|
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg)
|
rs375374719
|
0.00001
|
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His)
|
rs779062959
|
0.00001
|
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu)
|
rs780198735
|
0.00001
|
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=)
|
rs1019648840
|
0.00001
|
NM_001329943.3(KIAA0586):c.808-14C>G
|
rs765153409
|
0.00001
|
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg)
|
rs772425621
|
0.00001
|
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala)
|
rs1372486181
|
0.00001
|
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly)
|
rs765495285
|
0.00001
|
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=)
|
rs541197914
|
0.00001
|
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=)
|
rs1424135868
|
0.00001
|
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile)
|
rs751564059
|
0.00001
|
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg)
|
rs1297972335
|
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.1558C>T (p.Arg520Ter)
|
rs781252161
|
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.2162C>T (p.Pro721Leu)
|
rs533830027
|
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.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NM_001378615.1(CC2D2A):c.3015-9A>C
|
rs1010285962
|
0.00001
|
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)
|
rs863225173
|
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.3452T>C (p.Val1151Ala)
|
rs863225170
|
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.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg)
|
rs1392733763
|
0.00001
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)
|
rs778858648
|
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.4741A>G (p.Thr1581Ala)
|
rs863225174
|
0.00001
|
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)
|
rs780190318
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
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_001382391.1(CSPP1):c.-102G>A
|
rs1805078439
|
0.00001
|
NM_001382391.1(CSPP1):c.-112G>C
|
rs753468929
|
0.00001
|
NM_001382391.1(CSPP1):c.-116C>T
|
rs371071297
|
0.00001
|
NM_001382391.1(CSPP1):c.-140C>G
|
rs770993498
|
0.00001
|
NM_001382391.1(CSPP1):c.-146T>A
|
rs749476046
|
0.00001
|
NM_001382391.1(CSPP1):c.-75C>T
|
rs918221746
|
0.00001
|
NM_001382391.1(CSPP1):c.-76C>T
|
rs1261027822
|
0.00001
|
NM_001382391.1(CSPP1):c.-82G>C
|
rs778940690
|
0.00001
|
NM_001382391.1(CSPP1):c.100-3C>T
|
rs919525492
|
0.00001
|
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser)
|
rs1395802185
|
0.00001
|
NM_001382391.1(CSPP1):c.1023-9T>C
|
rs1161675884
|
0.00001
|
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=)
|
rs780635377
|
0.00001
|
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr)
|
rs1445583372
|
0.00001
|
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=)
|
rs1215710015
|
0.00001
|
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)
|
rs775285273
|
0.00001
|
NM_001382391.1(CSPP1):c.1188-10T>C
|
rs1458775172
|
0.00001
|
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn)
|
rs1037020711
|
0.00001
|
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile)
|
rs1231591915
|
0.00001
|
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr)
|
rs1460794902
|
0.00001
|
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=)
|
rs182555422
|
0.00001
|
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr)
|
rs974893054
|
0.00001
|
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=)
|
rs747901737
|
0.00001
|
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg)
|
rs1438276592
|
0.00001
|
NM_001382391.1(CSPP1):c.1497-2A>C
|
rs766633448
|
0.00001
|
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val)
|
rs755596091
|
0.00001
|
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=)
|
rs199923715
|
0.00001
|
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=)
|
rs756441690
|
0.00001
|
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala)
|
rs1818321960
|
0.00001
|
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln)
|
rs778430027
|
0.00001
|
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser)
|
rs1818326433
|
0.00001
|
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu)
|
rs375900507
|
0.00001
|
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp)
|
rs768395830
|
0.00001
|
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys)
|
rs1818416279
|
0.00001
|
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=)
|
rs1441641063
|
0.00001
|
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala)
|
rs754153035
|
0.00001
|
NM_001382391.1(CSPP1):c.1697+1G>T
|
rs863225193
|
0.00001
|
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=)
|
rs759106091
|
0.00001
|
NM_001382391.1(CSPP1):c.1827+10C>A
|
rs757078413
|
0.00001
|
NM_001382391.1(CSPP1):c.1827+3A>G
|
rs1449112719
|
0.00001
|
NM_001382391.1(CSPP1):c.1828-4C>A
|
rs1064797347
|
0.00001
|
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp)
|
rs527674289
|
0.00001
|
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)
|
rs1225726214
|
0.00001
|
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln)
|
rs1822579573
|
0.00001
|
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys)
|
rs760288983
|
0.00001
|
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg)
|
rs1452211221
|
0.00001
|
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=)
|
rs1320611050
|
0.00001
|
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly)
|
rs1212455505
|
0.00001
|
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg)
|
rs1822600510
|
0.00001
|
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=)
|
rs1334965098
|
0.00001
|
NM_001382391.1(CSPP1):c.199+13A>G
|
rs756283251
|
0.00001
|
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys)
|
rs1420249213
|
0.00001
|
NM_001382391.1(CSPP1):c.200-15T>C
|
rs1025519086
|
0.00001
|
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr)
|
rs968055651
|
0.00001
|
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg)
|
rs769707621
|
0.00001
|
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser)
|
rs751023936
|
0.00001
|
NM_001382391.1(CSPP1):c.2128+17T>G
|
rs1465446692
|
0.00001
|
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala)
|
rs780885390
|
0.00001
|
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile)
|
rs577752590
|
0.00001
|
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln)
|
rs201974031
|
0.00001
|
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser)
|
rs1826216893
|
0.00001
|
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His)
|
rs769971911
|
0.00001
|
NM_001382391.1(CSPP1):c.2242-19A>T
|
rs771867162
|
0.00001
|
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met)
|
rs760013419
|
0.00001
|
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr)
|
rs1421808533
|
0.00001
|
NM_001382391.1(CSPP1):c.2391+7C>G
|
rs1827123471
|
0.00001
|
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys)
|
rs1251717089
|
0.00001
|
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=)
|
rs775968442
|
0.00001
|
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys)
|
rs765955382
|
0.00001
|
NM_001382391.1(CSPP1):c.2538+10A>G
|
rs141325681
|
0.00001
|
NM_001382391.1(CSPP1):c.2538+11G>A
|
rs758376225
|
0.00001
|
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr)
|
rs769473253
|
0.00001
|
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=)
|
rs780284845
|
0.00001
|
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu)
|
rs1332974255
|
0.00001
|
NM_001382391.1(CSPP1):c.2643+7A>G
|
rs190584438
|
0.00001
|
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr)
|
rs894040195
|
0.00001
|
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=)
|
rs763958350
|
0.00001
|
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=)
|
rs778144204
|
0.00001
|
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile)
|
rs1828816022
|
0.00001
|
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys)
|
rs746260241
|
0.00001
|
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=)
|
rs1324539056
|
0.00001
|
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro)
|
rs764280843
|
0.00001
|
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly)
|
rs772949501
|
0.00001
|
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys)
|
rs373151997
|
0.00001
|
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln)
|
rs377493480
|
0.00001
|
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val)
|
rs370720351
|
0.00001
|
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn)
|
rs1381482450
|
0.00001
|
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly)
|
rs1282726257
|
0.00001
|
NM_001382391.1(CSPP1):c.2829-3T>C
|
rs1830657246
|
0.00001
|
NM_001382391.1(CSPP1):c.2829-4A>G
|
rs752142812
|
0.00001
|
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)
|
rs1380418532
|
0.00001
|
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=)
|
rs567550598
|
0.00001
|
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr)
|
rs1162661826
|
0.00001
|
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser)
|
rs745710780
|
0.00001
|
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=)
|
rs761971816
|
0.00001
|
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn)
|
rs766939685
|
0.00001
|
NM_001382391.1(CSPP1):c.2968+1G>T
|
rs587777142
|
0.00001
|
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=)
|
rs1810339109
|
0.00001
|
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)
|
rs760275528
|
0.00001
|
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn)
|
rs1384362094
|
0.00001
|
NM_001382391.1(CSPP1):c.303+3A>T
|
rs920556156
|
0.00001
|
NM_001382391.1(CSPP1):c.303+7A>G
|
rs1810343333
|
0.00001
|
NM_001382391.1(CSPP1):c.3109+20G>A
|
rs373555747
|
0.00001
|
NM_001382391.1(CSPP1):c.3109+5G>C
|
rs772586492
|
0.00001
|
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val)
|
rs370238037
|
0.00001
|
NM_001382391.1(CSPP1):c.3156+16C>A
|
rs773054384
|
0.00001
|
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His)
|
rs766496985
|
0.00001
|
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser)
|
rs1835967725
|
0.00001
|
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile)
|
rs1368965128
|
0.00001
|
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=)
|
rs769247285
|
0.00001
|
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile)
|
rs778723931
|
0.00001
|
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys)
|
rs758825560
|
0.00001
|
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala)
|
rs778293599
|
0.00001
|
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys)
|
rs537833447
|
0.00001
|
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr)
|
rs1017040124
|
0.00001
|
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser)
|
rs1158377033
|
0.00001
|
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro)
|
rs766061975
|
0.00001
|
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr)
|
rs1170601676
|
0.00001
|
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His)
|
rs752140903
|
0.00001
|
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His)
|
rs748165041
|
0.00001
|
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His)
|
rs1241589485
|
0.00001
|
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter)
|
rs936435444
|
0.00001
|
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser)
|
rs377160929
|
0.00001
|
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=)
|
rs1040715506
|
0.00001
|
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=)
|
rs760017432
|
0.00001
|
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser)
|
rs1395114211
|
0.00001
|
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln)
|
rs772650396
|
0.00001
|
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His)
|
rs762548335
|
0.00001
|
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=)
|
rs757510042
|
0.00001
|
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys)
|
rs747784602
|
0.00001
|
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro)
|
rs1339065259
|
0.00001
|
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=)
|
rs374780184
|
0.00001
|
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu)
|
rs752084244
|
0.00001
|
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp)
|
rs748917623
|
0.00001
|
NM_001382391.1(CSPP1):c.738T>C (p.His246=)
|
rs773951141
|
0.00001
|
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=)
|
rs1446123007
|
0.00001
|
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys)
|
rs1369528194
|
0.00001
|
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala)
|
rs764343140
|
0.00001
|
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg)
|
rs374738280
|
0.00001
|
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)
|
rs774703929
|
0.00001
|
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln)
|
rs1173092063
|
0.00001
|
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu)
|
rs754454865
|
0.00001
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
NM_003383.5(VLDLR):c.*267A>G
|
rs1036108012
|
0.00001
|
NM_003383.5(VLDLR):c.*51C>T
|
rs752035004
|
0.00001
|
NM_003383.5(VLDLR):c.-48G>C
|
rs1054805961
|
0.00001
|
NM_003383.5(VLDLR):c.1066+14T>C
|
rs762128149
|
0.00001
|
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)
|
rs137946976
|
0.00001
|
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr)
|
rs369197633
|
0.00001
|
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter)
|
rs141396971
|
0.00001
|
NM_003383.5(VLDLR):c.2104+6G>A
|
rs773398189
|
0.00001
|
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys)
|
rs1818277717
|
0.00001
|
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala)
|
rs753848585
|
0.00001
|
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn)
|
rs144469558
|
0.00001
|
NM_003383.5(VLDLR):c.83-1G>A
|
rs770269674
|
0.00001
|
NM_004056.6(CA8):c.710G>A (p.Arg237Gln)
|
rs387906598
|
0.00001
|
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)
|
rs1333091798
|
0.00001
|
NM_015160.3(PMPCA):c.1408+1G>A
|
rs753895120
|
0.00001
|
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg)
|
rs869025293
|
0.00001
|
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met)
|
rs192764146
|
0.00001
|
NM_015160.3(PMPCA):c.766G>A (p.Val256Met)
|
rs746549806
|
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.1010C>T (p.Ser337Phe)
|
rs747867189
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1029+8C>T
|
rs367844249
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)
|
rs758759988
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn)
|
rs949199630
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu)
|
rs770032567
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn)
|
rs777834264
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1351-11A>G
|
rs750076702
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp)
|
rs377512064
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly)
|
rs371841392
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)
|
rs147331527
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)
|
rs145516192
|
0.00001
|
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)
|
rs755258407
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
|
rs781713688
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)
|
rs775017742
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)
|
rs375766769
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro)
|
rs776297522
|
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.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys)
|
rs775007896
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)
|
rs201081228
|
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.230+1G>A
|
rs786204135
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)
|
rs1338012833
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys)
|
rs1196015536
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg)
|
rs1966513057
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg)
|
rs752772082
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)
|
rs766357656
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)
|
rs768030202
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)
|
rs1480250597
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)
|
rs181022346
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)
|
rs371616177
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3220+17A>C
|
rs1204073957
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr)
|
rs539084201
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3432+6T>G
|
rs543688285
|
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.3541C>A (p.Leu1181Ile)
|
rs905516252
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3616+9G>T
|
rs934455196
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)
|
rs1239622461
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile)
|
rs781401167
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys)
|
rs1963624413
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)
|
rs764832127
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)
|
rs776310931
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)
|
rs769611947
|
0.00001
|
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)
|
rs1167981125
|
0.00001
|
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)
|
rs1266143274
|
0.00001
|
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)
|
rs990678342
|
0.00001
|
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His)
|
rs1970020650
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln)
|
rs916661298
|
0.00001
|
NM_015272.5(RPGRIP1L):c.882+12A>G
|
rs1264347960
|
0.00001
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
NM_016464.5(TMEM138):c.-17G>A
|
rs757369483
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016464.5(TMEM138):c.129-18T>A
|
rs1181378192
|
0.00001
|
NM_016464.5(TMEM138):c.129-20A>T
|
rs1477684645
|
0.00001
|
NM_016464.5(TMEM138):c.129-8G>T
|
rs1438561210
|
0.00001
|
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp)
|
rs766349558
|
0.00001
|
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr)
|
rs767361822
|
0.00001
|
NM_016464.5(TMEM138):c.276C>T (p.Ser92=)
|
rs756828257
|
0.00001
|
NM_016464.5(TMEM138):c.300+17G>A
|
rs1858147311
|
0.00001
|
NM_016464.5(TMEM138):c.301-9C>A
|
rs764884921
|
0.00001
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
0.00001
|
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser)
|
rs934639615
|
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_016464.5(TMEM138):c.74A>G (p.Asn25Ser)
|
rs775913576
|
0.00001
|
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)
|
rs146264153
|
0.00001
|
NM_016529.6(ATP8A2):c.1058-2A>G
|
rs1304832284
|
0.00001
|
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile)
|
rs1398724919
|
0.00001
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
0.00001
|
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)
|
rs755133567
|
0.00001
|
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln)
|
rs566960742
|
0.00001
|
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr)
|
rs1171835963
|
0.00001
|
NM_016529.6(ATP8A2):c.3272+1G>A
|
rs779337270
|
0.00001
|
NM_016529.6(ATP8A2):c.77-2A>G
|
rs373909734
|
0.00001
|
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)
|
rs745809472
|
0.00001
|
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)
|
rs587779734
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)
|
rs760184188
|
0.00001
|
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)
|
rs754930606
|
0.00001
|
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)
|
rs1003579700
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)
|
rs749668169
|
0.00001
|
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu)
|
rs1176487325
|
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.1028G>A (p.Arg343Gln)
|
rs782089459
|
0.00001
|
NM_018718.3(CEP41):c.1053C>T (p.Gly351=)
|
rs782191360
|
0.00001
|
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
|
rs782590600
|
0.00001
|
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val)
|
rs781832103
|
0.00001
|
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)
|
rs587780311
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_018718.3(CEP41):c.145+3A>G
|
rs782008140
|
0.00001
|
NM_018718.3(CEP41):c.145+5G>A
|
rs1413177096
|
0.00001
|
NM_018718.3(CEP41):c.146-18T>C
|
rs202065857
|
0.00001
|
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu)
|
rs1554419921
|
0.00001
|
NM_018718.3(CEP41):c.164A>T (p.Asp55Val)
|
rs782776244
|
0.00001
|
NM_018718.3(CEP41):c.165T>C (p.Asp55=)
|
rs782085186
|
0.00001
|
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
|
rs1797202624
|
0.00001
|
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
|
rs782426353
|
0.00001
|
NM_018718.3(CEP41):c.208-17A>G
|
rs1374383852
|
0.00001
|
NM_018718.3(CEP41):c.278-1G>A
|
rs1796956272
|
0.00001
|
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
|
rs1554417870
|
0.00001
|
NM_018718.3(CEP41):c.308C>T (p.Ala103Val)
|
rs369687508
|
0.00001
|
NM_018718.3(CEP41):c.384C>T (p.Asn128=)
|
rs374535389
|
0.00001
|
NM_018718.3(CEP41):c.423-8A>G
|
rs1796893817
|
0.00001
|
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu)
|
rs111688621
|
0.00001
|
NM_018718.3(CEP41):c.565A>G (p.Ile189Val)
|
rs782591147
|
0.00001
|
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys)
|
rs782466306
|
0.00001
|
NM_018718.3(CEP41):c.643-12T>C
|
rs782521409
|
0.00001
|
NM_018718.3(CEP41):c.678C>T (p.Asp226=)
|
rs545406161
|
0.00001
|
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
|
rs1796819118
|
0.00001
|
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
|
rs149052906
|
0.00001
|
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
|
rs1554416667
|
0.00001
|
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
|
rs781822221
|
0.00001
|
NM_018718.3(CEP41):c.753C>T (p.Ser251=)
|
rs200612684
|
0.00001
|
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)
|
rs782815662
|
0.00001
|
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp)
|
rs782729874
|
0.00001
|
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)
|
rs782435349
|
0.00001
|
NM_018718.3(CEP41):c.942_943del (p.Glu315fs)
|
rs1584867379
|
0.00001
|
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu)
|
rs782474335
|
0.00001
|
NM_018718.3(CEP41):c.973+11T>C
|
rs781847285
|
0.00001
|
NM_018718.3(CEP41):c.973+15C>T
|
rs979158941
|
0.00001
|
NM_018718.3(CEP41):c.974-8C>T
|
rs367692258
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)
|
rs756789619
|
0.00001
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
NM_020366.4(RPGRIP1):c.3238+3A>G
|
rs1389509266
|
0.00001
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
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.102+13T>C
|
rs773325354
|
0.00001
|
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)
|
rs891165640
|
0.00001
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn)
|
rs750163383
|
0.00001
|
NM_025114.4(CEP290):c.1623+2C>A
|
rs2039218006
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
NM_025114.4(CEP290):c.1712-9T>C
|
rs1412442444
|
0.00001
|
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)
|
rs770829686
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.1977G>A (p.Lys659=)
|
rs1313927656
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)
|
rs748034744
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00001
|
NM_025114.4(CEP290):c.2448T>C (p.Arg816=)
|
rs371851348
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.2587-19T>C
|
rs755086278
|
0.00001
|
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
|
rs951351175
|
0.00001
|
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)
|
rs1000757966
|
0.00001
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
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.2974A>G (p.Asn992Asp)
|
rs1265448566
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
|
rs928926898
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)
|
rs1276779845
|
0.00001
|
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)
|
rs760934388
|
0.00001
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=)
|
rs747972826
|
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.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr)
|
rs1460182061
|
0.00001
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val)
|
rs2036709987
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4302+5G>A
|
rs1013125589
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.441+14T>G
|
rs765642954
|
0.00001
|
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=)
|
rs1220385672
|
0.00001
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)
|
rs760059883
|
0.00001
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)
|
rs773591434
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
|
rs1354836663
|
0.00001
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)
|
rs766355219
|
0.00001
|
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=)
|
rs1175295227
|
0.00001
|
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp)
|
rs886043119
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)
|
rs374183249
|
0.00001
|
NM_025114.4(CEP290):c.6270+19A>G
|
rs1181927624
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
|
rs769886105
|
0.00001
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
0.00001
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)
|
rs755447230
|
0.00001
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
NM_025114.4(CEP290):c.7130-16A>G
|
rs1430895394
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
NM_025114.4(CEP290):c.834C>T (p.Asn278=)
|
rs567493515
|
0.00001
|
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)
|
rs1487082103
|
0.00001
|
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)
|
rs1896432430
|
0.00001
|
NM_032856.5(WDR73):c.816T>C (p.Pro272=)
|
rs374742538
|
0.00001
|
NM_033064.5(ATCAY):c.*1181G>A
|
rs530991790
|
0.00001
|
NM_033064.5(ATCAY):c.*2356C>T
|
rs886054425
|
0.00001
|
NM_033064.5(ATCAY):c.*3124C>T
|
rs2039079791
|
0.00001
|
NM_033064.5(ATCAY):c.*612C>T
|
rs2039056211
|
0.00001
|
NM_033064.5(ATCAY):c.-176C>T
|
rs911941440
|
0.00001
|
NM_033064.5(ATCAY):c.-41-13G>A
|
rs529428286
|
0.00001
|
NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser)
|
rs756401076
|
0.00001
|
NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr)
|
rs756591751
|
0.00001
|
NM_033064.5(ATCAY):c.402C>T (p.Ser134=)
|
rs564040857
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg)
|
rs1455416289
|
0.00001
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
0.00001
|
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)
|
rs747752903
|
0.00001
|
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
|
rs774701716
|
0.00001
|
NM_153704.6(TMEM67):c.1675-13T>A
|
rs144538020
|
0.00001
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
NM_153704.6(TMEM67):c.2100+3A>G
|
rs376417882
|
0.00001
|
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr)
|
rs947256938
|
0.00001
|
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val)
|
rs762351497
|
0.00001
|
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val)
|
rs199874479
|
0.00001
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
0.00001
|
NM_153704.6(TMEM67):c.2440-11T>C
|
rs767482660
|
0.00001
|
NM_153704.6(TMEM67):c.2662-4T>C
|
rs374804519
|
0.00001
|
NM_153704.6(TMEM67):c.2765-4A>C
|
rs1242768505
|
0.00001
|
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe)
|
rs375047471
|
0.00001
|
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)
|
rs146838062
|
0.00001
|
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)
|
rs751309268
|
0.00001
|
NM_153704.6(TMEM67):c.312+5G>A
|
rs786200868
|
0.00001
|
NM_153704.6(TMEM67):c.638G>A (p.Arg213His)
|
rs770605718
|
0.00001
|
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)
|
rs767886819
|
0.00001
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu)
|
rs371462532
|
0.00001
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)
|
rs966581270
|
0.00001
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
NM_153704.6(TMEM67):c.882T>C (p.Leu294=)
|
rs200110207
|
0.00001
|
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)
|
rs1376394849
|
0.00001
|
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met)
|
rs779950527
|
0.00001
|
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly)
|
rs750006477
|
0.00001
|
2q13 deletion
|
|
|
GRCh37/hg19 2q13(chr2:110880893-110962659)
|
|
|
GRCh37/hg19 2q13(chr2:110880925-110962590)
|
|
|
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
|
|
|
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
|
|
|
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
|
|
|
NC_000002.11:g.(?_202334676)_(202523241_?)dup
|
|
|
NC_000002.11:g.(?_202466462)_(202508123_?)del
|
|
|
NC_000002.11:g.(?_202488978)_(202508123_?)dup
|
|
|
NC_000002.11:g.(?_202496774)_(202498154_?)del
|
|
|
NC_000002.11:g.(?_202501451)_(202633608_?)del
|
|
|
NC_000002.11:g.(?_202508062)_(202508123_?)del
|
|
|
NC_000002.12:g.(?_201618900)_(201647825_?)del
|
|
|
NC_000002.12:g.110069919_110205214del
|
|
|
NC_000003.11:g.(132438675_132440806)_132441126del
|
|
|
NC_000003.11:g.93714775_(93722753_93754174)del
|
|
|
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
|
|
|
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
|
|
|
NC_000008.10:g.(?_67786376)_(68165857_?)dup
|
|
|
NC_000008.10:g.(?_67976634)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_67976634)_(68658364_?)del
|
|
|
NC_000008.10:g.(?_67998222)_(67998365_?)del
|
|
|
NC_000008.10:g.(?_68015252)_(68015390_?)dup
|
|
|
NC_000008.10:g.(?_68018120)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68044335_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68107828_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68107848_?)dup
|
|
|
NC_000008.10:g.(?_68024197)_(68107828_?)dup
|
|
|
NC_000008.10:g.(?_68044166)_(68044335_?)del
|
|
|
NC_000008.10:g.(?_68070662)_(68071392_?)del
|
|
|
NC_000008.10:g.(?_68105679)_(68105857_?)del
|
|
|
NC_000008.11:g.(?_67010715)_(67064496_?)dup
|
|
|
NC_000008.11:g.(?_67111972)_(67218138_?)dup
|
|
|
NC_000008.11:g.(?_67193464)_(67193602_?)del
|
|
|
NC_000008.11:g.67195383TGA[3]
|
rs772729206
|
|
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
|
|
|
NC_000011.9:g.(?_61133497)_(61133708_?)del
|
|
|
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
|
|
|
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
|
|
|
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
|
|
|
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
|
|
|
NC_000014.8:g.(?_58711639)_(59014694_?)del
|
|
|
NC_000014.8:g.(?_58894347)_(58894375_?)del
|
|
|
NC_000014.8:g.(?_58894347)_(58899195_?)dup
|
|
|
NC_000014.8:g.(?_58894347)_(59014694_?)dup
|
|
|
NC_000014.8:g.(?_58896061)_(58899195_?)dup
|
|
|
NC_000014.8:g.(?_58910652)_(58910913_?)del
|
|
|
NC_000014.8:g.(?_58910652)_(58917484_?)dup
|
|
|
NC_000014.8:g.(?_58926541)_(58927898_?)del
|
|
|
NC_000014.8:g.(?_58938897)_(58941535_?)del
|
|
|
NC_000014.8:g.(?_58949211)_(58949450_?)dup
|
|
|
NC_000014.8:g.(?_58951496)_(58953792_?)del
|
|
|
NC_000014.8:g.(?_58975253)_(58975447_?)del
|
|
|
NC_000014.8:g.(?_59010581)_(59014694_?)dup
|
|
|
NC_000014.9:g.(?_58443934)_(58450766_?)del
|
|
|
NC_000014.9:g.(?_58448320)_(58450766_?)dup
|
|
|
NC_000016.10:g.(?_75539974)_(75545515_?)del
|
|
|
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
|
|
|
NC_000016.9:g.(?_75490611)_(75576599_?)del
|
|
|
NC_000016.9:g.(?_75512539)_(75576601_?)del
|
|
|
NC_000016.9:g.(?_75573872)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75573891)_(75579393_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75574092_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579403_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75579872_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75690509_?)del
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_75579704)_(75590169_?)dup
|
|
|
NC_000016.9:g.(?_75589682)_(75590169_?)del
|
|
|
NC_000016.9:g.(?_75589682)_(75690509_?)dup
|
|
|
NG_012741.1:g.(?_5001)_(37693_?)del
|
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
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.*2142G>C
|
rs76042698
|
|
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.-25G>A
|
rs568671275
|
|
NM_001044385.3(TMEM237):c.-67T>G
|
rs886055450
|
|
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
|
|
|
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
|
|
|
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
|
|
|
NM_001044385.3(TMEM237):c.1038-13T>C
|
|
|
NM_001044385.3(TMEM237):c.1038-16G>A
|
|
|
NM_001044385.3(TMEM237):c.1038-18G>C
|
rs1462537932
|
|
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
|
|
|
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu)
|
rs1957756642
|
|
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
|
|
|
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
|
rs138509553
|
|
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
|
rs1957756375
|
|
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
|
|
|
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
|
|
|
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys)
|
rs886055447
|
|
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
|
|
|
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
|
|
|
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn)
|
rs1362249907
|
|
NM_001044385.3(TMEM237):c.1159+15A>C
|
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
NM_001044385.3(TMEM237):c.1159+3A>G
|
rs754717992
|
|
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
|
|
|
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
|
|
|
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs)
|
rs763176756
|
|
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
|
rs1957737864
|
|
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1])
|
rs765428296
|
|
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
|
rs761770686
|
|
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
|
|
|
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
|
|
|
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
|
|
|
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
|
|
|
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser)
|
rs1376540567
|
|
NM_001044385.3(TMEM237):c.136+19T>C
|
rs2105903480
|
|
NM_001044385.3(TMEM237):c.136+20T>C
|
|
|
NM_001044385.3(TMEM237):c.137-14_137-13del
|
|
|
NM_001044385.3(TMEM237):c.137-17A>G
|
|
|
NM_001044385.3(TMEM237):c.137-19C>G
|
rs369430368
|
|
NM_001044385.3(TMEM237):c.137-2A>G
|
|
|
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
|
rs562984785
|
|
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
|
|
|
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
|
rs1687306098
|
|
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His)
|
rs768568104
|
|
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
|
rs999613520
|
|
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=)
|
rs2105902384
|
|
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)
|
rs902145121
|
|
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=)
|
rs2105902371
|
|
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=)
|
rs2105902357
|
|
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
|
|
|
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser)
|
rs376226585
|
|
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val)
|
rs1369476710
|
|
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
|
rs367728637
|
|
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln)
|
rs778373105
|
|
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=)
|
rs377090903
|
|
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
|
|
|
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln)
|
rs2105906100
|
|
NM_001044385.3(TMEM237):c.274+14C>G
|
|
|
NM_001044385.3(TMEM237):c.274+18G>C
|
|
|
NM_001044385.3(TMEM237):c.274+9A>G
|
|
|
NM_001044385.3(TMEM237):c.275-2A>G
|
rs1574582671
|
|
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
|
|
|
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
|
|
|
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
|
rs1324625933
|
|
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
|
|
|
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
|
|
|
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
|
|
|
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
|
rs1687222402
|
|
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)
|
rs2105900861
|
|
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
|
|
|
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
|
rs1319201699
|
|
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)
|
rs565778005
|
|
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
|
|
|
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)
|
rs1553660992
|
|
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
|
|
|
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
|
|
|
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr)
|
rs2105900828
|
|
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
|
|
|
NM_001044385.3(TMEM237):c.395+16T>C
|
|
|
NM_001044385.3(TMEM237):c.396-15A>G
|
|
|
NM_001044385.3(TMEM237):c.396-2A>G
|
|
|
NM_001044385.3(TMEM237):c.396-4A>G
|
|
|
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=)
|
rs1253365223
|
|
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
|
|
|
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=)
|
rs2105900286
|
|
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
|
rs972221242
|
|
NM_001044385.3(TMEM237):c.42+16C>G
|
rs2105906044
|
|
NM_001044385.3(TMEM237):c.42+18C>T
|
|
|
NM_001044385.3(TMEM237):c.42+6C>T
|
|
|
NM_001044385.3(TMEM237):c.42+7G>T
|
|
|
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr)
|
rs2105900282
|
|
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
|
|
|
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
|
|
|
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
|
|
|
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs)
|
rs1957813141
|
|
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met)
|
rs2105900253
|
|
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser)
|
rs772074875
|
|
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
|
|
|
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=)
|
rs2105900225
|
|
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
|
rs1433478535
|
|
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
|
rs1957812548
|
|
NM_001044385.3(TMEM237):c.553+2dup
|
rs1957812399
|
|
NM_001044385.3(TMEM237):c.553+3dup
|
rs1957812369
|
|
NM_001044385.3(TMEM237):c.554-2_554-1insT
|
rs1085307098
|
|
NM_001044385.3(TMEM237):c.554-3dup
|
rs778807445
|
|
NM_001044385.3(TMEM237):c.554-5C>T
|
|
|
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
|
|
|
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu)
|
rs1202199961
|
|
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
|
|
|
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
|
rs756970007
|
|
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs)
|
rs2105899220
|
|
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
|
rs767769973
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)
|
rs2105899200
|
|
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe)
|
rs2105899190
|
|
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu)
|
rs769861092
|
|
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
|
rs2105899171
|
|
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)
|
rs2105899169
|
|
NM_001044385.3(TMEM237):c.677+18A>G
|
|
|
NM_001044385.3(TMEM237):c.677+1G>T
|
rs793888505
|
|
NM_001044385.3(TMEM237):c.678-13C>T
|
rs1957789089
|
|
NM_001044385.3(TMEM237):c.678-15C>A
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
NM_001044385.3(TMEM237):c.678-6A>G
|
|
|
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
|
|
|
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg)
|
rs1163877651
|
|
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
|
|
|
NM_001044385.3(TMEM237):c.69G>T (p.Val23=)
|
rs2105904439
|
|
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser)
|
rs763431945
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001044385.3(TMEM237):c.74+12_74+14del
|
|
|
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
|
rs1957787811
|
|
NM_001044385.3(TMEM237):c.75-19G>A
|
|
|
NM_001044385.3(TMEM237):c.75-5G>A
|
|
|
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys)
|
rs2105898977
|
|
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
|
rs387907131
|
|
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro)
|
rs992818026
|
|
NM_001044385.3(TMEM237):c.79+20A>T
|
rs745908076
|
|
NM_001044385.3(TMEM237):c.79+5G>C
|
|
|
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
|
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.80-20C>T
|
rs753443048
|
|
NM_001044385.3(TMEM237):c.80-2A>G
|
rs1445957469
|
|
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
|
|
|
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=)
|
rs2105898943
|
|
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
|
|
|
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
|
|
|
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile)
|
rs1015591586
|
|
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr)
|
rs1343901400
|
|
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
|
rs2105898925
|
|
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
|
|
|
NM_001044385.3(TMEM237):c.869+11T>C
|
|
|
NM_001044385.3(TMEM237):c.869+15T>C
|
|
|
NM_001044385.3(TMEM237):c.869+16C>T
|
rs980158363
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001044385.3(TMEM237):c.869+1del
|
rs1311551510
|
|
NM_001044385.3(TMEM237):c.869+8C>G
|
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001044385.3(TMEM237):c.870-4C>G
|
|
|
NM_001044385.3(TMEM237):c.870-8T>G
|
rs2105898458
|
|
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)
|
rs2105898446
|
|
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
|
|
|
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
|
rs768528861
|
|
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
|
|
|
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly)
|
rs2105898418
|
|
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg)
|
rs1380123430
|
|
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro)
|
rs2105898403
|
|
NM_001044385.3(TMEM237):c.943+15dup
|
|
|
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp)
|
rs1043186259
|
|
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val)
|
rs2105898068
|
|
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
|
rs1957768968
|
|
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
|
|
|
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
|
|
|
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg)
|
rs1057148787
|
|
NM_001077418.2(TMEM231):c.-53A>G
|
rs1176007249
|
|
NM_001077418.2(TMEM231):c.-55C>T
|
rs2151711350
|
|
NM_001077418.2(TMEM231):c.-59G>A
|
|
|
NM_001077418.2(TMEM231):c.-61T>G
|
|
|
NM_001077418.3(TMEM231):c.-16C>A
|
|
|
NM_001077418.3(TMEM231):c.-17G>T
|
rs768513169
|
|
NM_001077418.3(TMEM231):c.-22G>C
|
|
|
NM_001077418.3(TMEM231):c.-25C>T
|
|
|
NM_001077418.3(TMEM231):c.-30C>A
|
rs2080810566
|
|
NM_001077418.3(TMEM231):c.-37G>A
|
|
|
NM_001077418.3(TMEM231):c.-38T>C
|
rs758946916
|
|
NM_001077418.3(TMEM231):c.-41A>C
|
rs765256905
|
|
NM_001077418.3(TMEM231):c.-8C>T
|
rs780752063
|
|
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
|
|
|
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
|
|
|
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
|
|
|
NM_001077418.3(TMEM231):c.139+12C>T
|
rs937269706
|
|
NM_001077418.3(TMEM231):c.139+14G>A
|
|
|
NM_001077418.3(TMEM231):c.139+1del
|
rs2151711054
|
|
NM_001077418.3(TMEM231):c.139+28G>A
|
rs370005084
|
|
NM_001077418.3(TMEM231):c.139+39G>C
|
rs1448302846
|
|
NM_001077418.3(TMEM231):c.139+39_139+40del
|
|
|
NM_001077418.3(TMEM231):c.139+44G>T
|
|
|
NM_001077418.3(TMEM231):c.139+48G>T
|
rs1234390023
|
|
NM_001077418.3(TMEM231):c.139+9G>A
|
|
|
NM_001077418.3(TMEM231):c.140-10T>C
|
rs2151710900
|
|
NM_001077418.3(TMEM231):c.140-29C>T
|
|
|
NM_001077418.3(TMEM231):c.140-2A>G
|
rs1216670609
|
|
NM_001077418.3(TMEM231):c.140-30A>C
|
rs2080806593
|
|
NM_001077418.3(TMEM231):c.140-33C>G
|
rs901311435
|
|
NM_001077418.3(TMEM231):c.140-39G>A
|
|
|
NM_001077418.3(TMEM231):c.140-3C>G
|
rs776673877
|
|
NM_001077418.3(TMEM231):c.140-47C>G
|
rs369232571
|
|
NM_001077418.3(TMEM231):c.140-5C>T
|
|
|
NM_001077418.3(TMEM231):c.140-8dup
|
|
|
NM_001077418.3(TMEM231):c.140-9_140-8del
|
|
|
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu)
|
rs2151710882
|
|
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
|
|
|
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
|
|
|
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
|
|
|
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
|
|
|
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
|
|
|
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
|
|
|
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
|
|
|
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)
|
rs772102451
|
|
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
|
|
|
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
|
|
|
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
|
|
|
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=)
|
rs781250253
|
|
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
|
|
|
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
|
|
|
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp)
|
rs1350319069
|
|
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val)
|
rs2151710764
|
|
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val)
|
rs2080804915
|
|
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
|
|
|
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
|
|
|
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn)
|
rs753709447
|
|
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
|
|
|
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
|
|
|
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=)
|
rs2151710642
|
|
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
|
|
|
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
|
|
|
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
|
|
|
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
|
|
|
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
|
|
|
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
|
|
|
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
|
|
|
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
|
|
|
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile)
|
rs2151710524
|
|
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
|
|
|
NM_001077418.3(TMEM231):c.309+12C>T
|
|
|
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.310-15G>C
|
rs2151703201
|
|
NM_001077418.3(TMEM231):c.310-18C>T
|
|
|
NM_001077418.3(TMEM231):c.310-4C>G
|
rs2080685365
|
|
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
|
|
|
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly)
|
rs1415195367
|
|
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
|
|
|
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
|
|
|
NM_001077418.3(TMEM231):c.354dup (p.His119fs)
|
rs2151703115
|
|
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
|
|
|
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)
|
rs1348700844
|
|
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)
|
rs775329522
|
|
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
|
rs1202833405
|
|
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
|
|
|
NM_001077418.3(TMEM231):c.396T>C (p.Val132=)
|
rs1187444555
|
|
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
|
|
|
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
|
|
|
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
|
|
|
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=)
|
rs2080683492
|
|
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
|
|
|
NM_001077418.3(TMEM231):c.438+13G>A
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.438+13G>T
|
rs780849828
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.438+3G>A
|
rs1183368030
|
|
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
|
|
|
NM_001077418.3(TMEM231):c.439-11A>G
|
|
|
NM_001077418.3(TMEM231):c.439-20G>T
|
|
|
NM_001077418.3(TMEM231):c.439-33_538del
|
|
|
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
|
|
|
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
|
|
|
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
|
|
|
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg)
|
rs2080678228
|
|
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
|
|
|
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
|
|
|
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
|
|
|
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
|
|
|
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)
|
rs1597041448
|
|
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
|
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)
|
rs903354438
|
|
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
|
|
|
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
|
|
|
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=)
|
rs1335128278
|
|
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
|
|
|
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
|
|
|
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)
|
rs2151702587
|
|
NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)
|
|
|
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
|
|
|
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe)
|
rs1280264089
|
|
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
|
|
|
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu)
|
rs2151702535
|
|
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
|
|
|
NM_001077418.3(TMEM231):c.582+17T>G
|
|
|
NM_001077418.3(TMEM231):c.582+8C>T
|
|
|
NM_001077418.3(TMEM231):c.583-1_583delinsAG
|
rs2151700036
|
|
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
|
|
|
NM_001077418.3(TMEM231):c.583-3C>G
|
|
|
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
|
|
|
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
|
|
|
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
|
|
|
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
|
|
|
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
|
rs2080639506
|
|
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
|
|
|
NM_001077418.3(TMEM231):c.664+1G>A
|
|
|
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu)
|
rs397514753
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
NM_001077418.3(TMEM231):c.665-13G>C
|
|
|
NM_001077418.3(TMEM231):c.665-19G>T
|
rs200581224
|
|
NM_001077418.3(TMEM231):c.665-19_665-13del
|
|
|
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
|
|
|
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
|
|
|
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
|
|
|
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val)
|
rs1567441268
|
|
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
|
|
|
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
|
|
|
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
|
|
|
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
|
|
|
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr)
|
rs1344067825
|
|
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
|
|
|
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr)
|
rs139236786
|
|
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
|
|
|
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
|
|
|
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu)
|
rs1277858041
|
|
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
|
|
|
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
|
|
|
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val)
|
rs951457866
|
|
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
|
|
|
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
|
|
|
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)
|
rs1295551040
|
|
NM_001077418.3(TMEM231):c.770+20G>A
|
|
|
NM_001077418.3(TMEM231):c.770+3A>G
|
rs2080625882
|
|
NM_001077418.3(TMEM231):c.770+6C>G
|
|
|
NM_001077418.3(TMEM231):c.771-17T>G
|
|
|
NM_001077418.3(TMEM231):c.771-4A>G
|
|
|
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
|
|
|
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
|
|
|
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
|
rs758048238
|
|
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
|
rs2151697774
|
|
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)
|
rs797044954
|
|
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=)
|
rs754352443
|
|
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
|
|
|
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)
|
rs397514754
|
|
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
|
|
|
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
|
|
|
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
|
|
|
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
|
|
|
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
|
rs2080604225
|
|
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
|
|
|
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
|
|
|
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
|
|
|
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
|
|
|
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
|
|
|
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr)
|
rs2151697600
|
|
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
|
|
|
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
|
|
|
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
|
|
|
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
|
|
|
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
|
|
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
|
rs1362332031
|
|
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
|
|
|
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
|
|
|
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
|
|
|
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
|
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)
|
rs1566003392
|
|
NM_001082538.3(TCTN1):c.1494+2T>C
|
|
|
NM_001128178.3(NPHP1):c.*199A>G
|
rs1679131109
|
|
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
|
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1084-2A>C
|
|
|
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
|
|
|
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)
|
rs375907280
|
|
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
|
|
|
NM_001128178.3(NPHP1):c.1270-12C>T
|
rs772635725
|
|
NM_001128178.3(NPHP1):c.1270-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
|
|
|
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)
|
rs886054753
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
|
|
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
|
|
|
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
|
|
|
NM_001128178.3(NPHP1):c.1352+2T>G
|
|
|
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)
|
rs2104483923
|
|
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
|
rs1212780955
|
|
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
|
|
|
NM_001128178.3(NPHP1):c.141_143+40del
|
|
|
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)
|
rs373953762
|
|
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)
|
rs573192954
|
|
NM_001128178.3(NPHP1):c.1530-4del
|
rs757295724
|
|
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
|
rs1679799639
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.1643-1G>C
|
|
|
NM_001128178.3(NPHP1):c.1643-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1717-1dup
|
|
|
NM_001128178.3(NPHP1):c.1717-5T>G
|
rs1679303713
|
|
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
|
|
|
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
|
|
|
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
|
rs538690900
|
|
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)
|
rs141686332
|
|
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
|
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
|
|
|
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.404A>G (p.Asp135Gly)
|
rs747176517
|
|
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu)
|
rs774386187
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.522+5_522+8del
|
rs1411070570
|
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)
|
rs886054756
|
|
NM_001128178.3(NPHP1):c.625-2A>G
|
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)
|
rs886054755
|
|
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)
|
rs947765689
|
|
NM_001128178.3(NPHP1):c.69+1G>T
|
|
|
NM_001128178.3(NPHP1):c.69+1del
|
|
|
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser)
|
rs201661196
|
|
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
|
|
|
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.771+124C>T
|
|
|
NM_001128178.3(NPHP1):c.771+136C>A
|
rs142670785
|
|
NM_001128178.3(NPHP1):c.771+148G>T
|
rs753796140
|
|
NM_001128178.3(NPHP1):c.771+178C>T
|
rs767903893
|
|
NM_001128178.3(NPHP1):c.771+58C>T
|
|
|
NM_001128178.3(NPHP1):c.772-5T>C
|
rs201478764
|
|
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)
|
rs886054754
|
|
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
|
|
|
NM_001128178.3(NPHP1):c.859+8G>C
|
rs765856771
|
|
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
|
|
|
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
|
|
|
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
|
|
|
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.*1A>C
|
|
|
NM_001134831.2(AHI1):c.*216G>A
|
rs1781565852
|
|
NM_001134831.2(AHI1):c.*246T>C
|
rs1781561968
|
|
NM_001134831.2(AHI1):c.*28G>C
|
rs9494209
|
|
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.1044C>A (p.Tyr348Ter)
|
rs2128081591
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.108del (p.Lys36fs)
|
rs1562294047
|
|
NM_001134831.2(AHI1):c.1094dup (p.Met365fs)
|
rs2128081478
|
|
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)
|
rs863225133
|
|
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
|
rs1789162289
|
|
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
|
rs1788846426
|
|
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe)
|
rs761203456
|
|
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)
|
rs121434349
|
|
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)
|
rs545841352
|
|
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe)
|
rs372919026
|
|
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)
|
rs886061112
|
|
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
|
rs1788834778
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs)
|
rs1788833484
|
|
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)
|
rs2128071123
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
|
|
|
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1614del (p.Val539fs)
|
rs863225141
|
|
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)
|
rs1787553528
|
|
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly)
|
rs1787553194
|
|
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC
|
rs863225148
|
|
NM_001134831.2(AHI1):c.1627-6A>G
|
rs886061111
|
|
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys)
|
rs971565169
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
|
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer)
|
rs1787347907
|
|
NM_001134831.2(AHI1):c.1780-3T>C
|
rs1786509189
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
|
rs1163874095
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
|
|
|
NM_001134831.2(AHI1):c.1889del (p.Ser630fs)
|
rs1786487832
|
|
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)
|
rs863225132
|
|
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu)
|
rs371531507
|
|
NM_001134831.2(AHI1):c.1912+15T>G
|
rs1786478454
|
|
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)
|
rs764412921
|
|
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
|
rs1785751637
|
|
NM_001134831.2(AHI1):c.1983del (p.Trp662fs)
|
rs1459452503
|
|
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
|
|
|
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val)
|
rs371198770
|
|
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)
|
rs863225145
|
|
NM_001134831.2(AHI1):c.2036+1G>T
|
rs776093293
|
|
NM_001134831.2(AHI1):c.2036+6T>G
|
rs2128037867
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)
|
rs863225136
|
|
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)
|
rs863225134
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)
|
rs863225140
|
|
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala)
|
rs752392677
|
|
NM_001134831.2(AHI1):c.2266+1G>A
|
|
|
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)
|
rs372012542
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
|
|
|
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)
|
rs863225139
|
|
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile)
|
rs1049221524
|
|
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg)
|
rs886061110
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
|
rs387906270
|
|
NM_001134831.2(AHI1):c.2374-12del
|
rs766929085
|
|
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
|
|
|
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.2483A>C (p.Asp828Ala)
|
rs1784406093
|
|
NM_001134831.2(AHI1):c.2492+5G>A
|
rs2128012406
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)
|
rs529407899
|
|
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser)
|
rs2128009440
|
|
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
|
rs199736888
|
|
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)
|
rs1583187059
|
|
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)
|
rs587783014
|
|
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala)
|
rs376705634
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del)
|
rs1583179812
|
|
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.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
NM_001134831.2(AHI1):c.3109+14T>A
|
rs1778988078
|
|
NM_001134831.2(AHI1):c.3109+6788A>C
|
|
|
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
|
|
|
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
|
rs750115460
|
|
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs)
|
rs387906269
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
NM_001134831.2(AHI1):c.3486-4A>G
|
rs534053819
|
|
NM_001134831.2(AHI1):c.406T>C (p.Leu136=)
|
rs1299907778
|
|
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)
|
rs192524061
|
|
NM_001134831.2(AHI1):c.430del (p.Glu144fs)
|
rs2128098409
|
|
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.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
NM_001134831.2(AHI1):c.917del (p.Lys306fs)
|
rs1181159671
|
|
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)
|
rs747322175
|
|
NM_001134831.2(AHI1):c.971A>G (p.His324Arg)
|
rs1789192683
|
|
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)
|
rs150798889
|
|
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala)
|
rs1915232687
|
|
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
|
|
|
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu)
|
rs1915315281
|
|
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)
|
rs748793270
|
|
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)
|
|
|
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
|
|
|
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
|
|
|
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)
|
rs770279237
|
|
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter)
|
rs1484029774
|
|
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)
|
rs199995527
|
|
NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)
|
|
|
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)
|
rs374149596
|
|
NM_001163809.2(WDR81):c.4879G>A (p.Val1627Met)
|
|
|
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
|
|
|
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro)
|
rs150784268
|
|
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)
|
rs1045794
|
|
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
|
|
|
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)
|
rs730882206
|
|
NM_001173976.2(TCTN1):c.1011-2_1012del
|
|
|
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.*6A>G
|
rs541341560
|
|
NM_001173990.3(TMEM216):c.-24C>G
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.-24C>T
|
rs59493015
|
|
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)
|
rs1554972400
|
|
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
|
|
|
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)
|
rs900061092
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.137-7T>C
|
rs1554972545
|
|
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)
|
rs1554972556
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
|
|
|
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
|
|
|
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.229+10G>A
|
rs1590642512
|
|
NM_001173990.3(TMEM216):c.229+1G>A
|
rs2135191306
|
|
NM_001173990.3(TMEM216):c.229+1G>C
|
|
|
NM_001173990.3(TMEM216):c.230-10T>C
|
rs1858829914
|
|
NM_001173990.3(TMEM216):c.230-2A>G
|
rs1211592806
|
|
NM_001173990.3(TMEM216):c.230-9dup
|
rs1554972934
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)
|
rs1238443381
|
|
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)
|
rs1554972406
|
|
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
|
|
|
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)
|
rs1554972958
|
|
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)
|
rs147267631
|
|
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)
|
rs1554972964
|
|
NM_001173990.3(TMEM216):c.34+18_34+21del
|
rs940443692
|
|
NM_001173990.3(TMEM216):c.34+1G>A
|
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG
|
rs1554973024
|
|
NM_001173990.3(TMEM216):c.432-10delinsAA
|
rs1554973021
|
|
NM_001173990.3(TMEM216):c.432-10delinsAC
|
rs1554973021
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)
|
rs1565088283
|
|
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)
|
rs1554972409
|
|
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
|
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
|
|
|
NM_001174150.2(ARL13B):c.59+1G>A
|
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)
|
rs764109067
|
|
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
|
|
|
NM_001244189.1(KIAA0586):c.2602_2612del11
|
|
|
NM_001244189.2(KIAA0586):c.9+12G>C
|
rs2140365548
|
|
NM_001244189.2(KIAA0586):c.9+16C>T
|
|
|
NM_001244189.2(KIAA0586):c.9+4A>C
|
rs1029046238
|
|
NM_001244189.2(KIAA0586):c.9+5G>C
|
|
|
NM_001329943.3(KIAA0586):c.*20A>G
|
|
|
NM_001329943.3(KIAA0586):c.*3G>A
|
rs748083468
|
|
NM_001329943.3(KIAA0586):c.-1T>C
|
|
|
NM_001329943.3(KIAA0586):c.-20C>T
|
|
|
NM_001329943.3(KIAA0586):c.-28G>A
|
|
|
NM_001329943.3(KIAA0586):c.-29A>C
|
rs752709426
|
|
NM_001329943.3(KIAA0586):c.-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.-31T>G
|
|
|
NM_001329943.3(KIAA0586):c.-33C>G
|
rs1246692312
|
|
NM_001329943.3(KIAA0586):c.-36G>A
|
rs781284563
|
|
NM_001329943.3(KIAA0586):c.-37C>G
|
|
|
NM_001329943.3(KIAA0586):c.-47A>G
|
|
|
NM_001329943.3(KIAA0586):c.-4C>G
|
|
|
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile)
|
rs186659284
|
|
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe)
|
rs186659284
|
|
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
|
|
|
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
|
|
|
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs)
|
rs2140706563
|
|
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
|
|
|
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs)
|
rs1232900431
|
|
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
|
|
|
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
|
|
|
NM_001329943.3(KIAA0586):c.1129+16A>C
|
rs1263079347
|
|
NM_001329943.3(KIAA0586):c.1129+1G>A
|
rs2140707466
|
|
NM_001329943.3(KIAA0586):c.1129+20G>C
|
|
|
NM_001329943.3(KIAA0586):c.1129+6A>C
|
|
|
NM_001329943.3(KIAA0586):c.1130-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.1130-16A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-18A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-20C>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-7A>G
|
rs1656520928
|
|
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
|
|
|
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His)
|
rs963677243
|
|
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys)
|
rs2039563292
|
|
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp)
|
rs190089844
|
|
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn)
|
rs1349839476
|
|
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
|
|
|
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu)
|
rs2140763302
|
|
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
|
|
|
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=)
|
rs2039565444
|
|
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
|
|
|
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys)
|
rs548318176
|
|
NM_001329943.3(KIAA0586):c.1253+12A>T
|
|
|
NM_001329943.3(KIAA0586):c.1253+17G>A
|
|
|
NM_001329943.3(KIAA0586):c.1253+19A>C
|
|
|
NM_001329943.3(KIAA0586):c.1253+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.1254-12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1254-19A>T
|
rs2140825179
|
|
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)
|
rs1301378192
|
|
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
|
|
|
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
|
|
|
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
|
|
|
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
|
|
|
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
|
|
|
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
|
|
|
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
|
|
|
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
|
|
|
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
|
|
|
NM_001329943.3(KIAA0586):c.1362+10G>T
|
|
|
NM_001329943.3(KIAA0586):c.1362+17C>T
|
|
|
NM_001329943.3(KIAA0586):c.1362+2T>C
|
rs901508284
|
|
NM_001329943.3(KIAA0586):c.1363-11T>C
|
rs2140842996
|
|
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln)
|
rs2140843404
|
|
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
|
|
|
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
|
|
|
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=)
|
rs2140843741
|
|
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
|
|
|
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys)
|
rs1323358756
|
|
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser)
|
rs1245858530
|
|
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
|
|
|
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe)
|
rs761150154
|
|
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
|
|
|
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe)
|
rs369211190
|
|
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
|
|
|
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs)
|
rs2140844892
|
|
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
|
|
|
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg)
|
rs2040004897
|
|
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
|
|
|
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
|
|
|
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
|
|
|
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
|
|
|
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
|
|
|
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
|
|
|
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
|
|
|
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
|
|
|
NM_001329943.3(KIAA0586):c.1583+17A>G
|
|
|
NM_001329943.3(KIAA0586):c.1583+7G>A
|
rs1333490071
|
|
NM_001329943.3(KIAA0586):c.1584-14T>C
|
rs2140853060
|
|
NM_001329943.3(KIAA0586):c.1584-18C>A
|
|
|
NM_001329943.3(KIAA0586):c.1584-5del
|
|
|
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=)
|
rs776054856
|
|
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
|
|
|
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser)
|
rs2140854100
|
|
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
|
|
|
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
|
|
|
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
|
|
|
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
|
|
|
NM_001329943.3(KIAA0586):c.1656+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1656+17A>T
|
|
|
NM_001329943.3(KIAA0586):c.1656+19C>A
|
|
|
NM_001329943.3(KIAA0586):c.1657-13T>C
|
|
|
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
|
|
|
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs)
|
rs2140873534
|
|
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
|
|
|
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)
|
rs2040187420
|
|
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
|
|
|
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
|
|
|
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
|
|
|
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser)
|
rs2140874422
|
|
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
|
|
|
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg)
|
rs780461594
|
|
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter)
|
rs1566827747
|
|
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
|
|
|
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
|
|
|
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
|
|
|
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs)
|
rs2140875258
|
|
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
|
|
|
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
|
|
|
NM_001329943.3(KIAA0586):c.1884+15T>C
|
rs1313237040
|
|
NM_001329943.3(KIAA0586):c.1884+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.1885-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
|
|
|
NM_001329943.3(KIAA0586):c.1885-15A>T
|
|
|
NM_001329943.3(KIAA0586):c.1885-5C>T
|
rs752142962
|
|
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu)
|
rs940229482
|
|
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
|
|
|
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
|
|
|
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly)
|
rs1210187670
|
|
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=)
|
rs376649351
|
|
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=)
|
rs1477846398
|
|
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
|
|
|
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe)
|
rs2140886222
|
|
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs)
|
rs2140886312
|
|
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro)
|
rs1473572852
|
|
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)
|
rs797045119
|
|
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg)
|
rs769913250
|
|
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
|
|
|
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
|
|
|
NM_001329943.3(KIAA0586):c.199+13A>C
|
rs769176872
|
|
NM_001329943.3(KIAA0586):c.199+13A>G
|
|
|
NM_001329943.3(KIAA0586):c.199+15G>A
|
|
|
NM_001329943.3(KIAA0586):c.199+23del
|
rs537837939
|
|
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
|
|
|
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser)
|
rs2140375856
|
|
NM_001329943.3(KIAA0586):c.200-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.200-5G>A
|
|
|
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
|
|
|
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
|
|
|
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=)
|
rs2140887489
|
|
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
|
|
|
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=)
|
rs190081177
|
|
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
|
|
|
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
|
|
|
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu)
|
rs751924115
|
|
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)
|
rs2140887842
|
|
NM_001329943.3(KIAA0586):c.2059+20A>G
|
|
|
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2060-16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2060-19C>T
|
|
|
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
|
|
|
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
|
|
|
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala)
|
rs2140939104
|
|
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn)
|
rs1868384082
|
|
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
|
|
|
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
|
|
|
NM_001329943.3(KIAA0586):c.213_270+11dup
|
|
|
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys)
|
rs2140939862
|
|
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr)
|
rs757373300
|
|
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr)
|
rs750671663
|
|
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
|
|
|
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser)
|
rs2140940326
|
|
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala)
|
rs1489902309
|
|
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
|
|
|
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
|
|
|
NM_001329943.3(KIAA0586):c.2254+17T>C
|
rs2140941167
|
|
NM_001329943.3(KIAA0586):c.2254+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.2254+20G>T
|
|
|
NM_001329943.3(KIAA0586):c.2255-3T>C
|
rs2140956887
|
|
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
|
|
|
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
|
|
|
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
|
|
|
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
|
|
|
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
|
|
|
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn)
|
rs2140957750
|
|
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
|
|
|
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
|
|
|
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
|
|
|
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
|
|
|
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
|
|
|
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly)
|
rs1302610013
|
|
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val)
|
rs1302610013
|
|
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
|
|
|
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val)
|
rs2140391234
|
|
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
|
|
|
NM_001329943.3(KIAA0586):c.2442+11del
|
rs753806115
|
|
NM_001329943.3(KIAA0586):c.2442+15A>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+9G>A
|
rs1490718693
|
|
NM_001329943.3(KIAA0586):c.2443-14G>A
|
|
|
NM_001329943.3(KIAA0586):c.2443-18T>C
|
|
|
NM_001329943.3(KIAA0586):c.2443-19A>G
|
|
|
NM_001329943.3(KIAA0586):c.2443-4T>C
|
rs911579183
|
|
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
|
|
|
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
|
|
|
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
|
|
|
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr)
|
rs1320727649
|
|
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
|
|
|
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
|
|
|
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
|
|
|
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del)
|
rs750244824
|
|
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His)
|
rs763982126
|
|
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
|
|
|
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
|
|
|
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
|
|
|
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val)
|
rs200219991
|
|
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=)
|
rs761492303
|
|
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=)
|
rs751246498
|
|
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr)
|
rs2140987094
|
|
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe)
|
rs749680733
|
|
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
|
|
|
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2553+20C>A
|
|
|
NM_001329943.3(KIAA0586):c.2553+6T>C
|
|
|
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
|
rs1024217852
|
|
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2554-14A>G
|
|
|
NM_001329943.3(KIAA0586):c.2554-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.2554-9C>A
|
|
|
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
|
|
|
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
|
|
|
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg)
|
rs74055693
|
|
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
|
|
|
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)
|
rs2140372917
|
|
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val)
|
rs2041278053
|
|
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
|
|
|
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
|
|
|
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val)
|
rs868621645
|
|
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2634+10C>G
|
|
|
NM_001329943.3(KIAA0586):c.2634+12T>C
|
rs766964981
|
|
NM_001329943.3(KIAA0586):c.2634+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.2634+5C>G
|
|
|
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=)
|
rs2037178345
|
|
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn)
|
rs760087214
|
|
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr)
|
rs780403471
|
|
NM_001329943.3(KIAA0586):c.270+3A>G
|
rs2140391500
|
|
NM_001329943.3(KIAA0586):c.270+7A>C
|
|
|
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.271-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala)
|
rs753434086
|
|
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
|
|
|
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
|
|
|
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg)
|
rs2141025129
|
|
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
|
|
|
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del)
|
rs2141025393
|
|
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
|
|
|
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
|
|
|
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
|
|
|
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
|
|
|
NM_001329943.3(KIAA0586):c.2825+15T>G
|
|
|
NM_001329943.3(KIAA0586):c.2825+1G>A
|
rs2141025675
|
|
NM_001329943.3(KIAA0586):c.2826-10A>G
|
|
|
NM_001329943.3(KIAA0586):c.2826-11C>T
|
|
|
NM_001329943.3(KIAA0586):c.2826-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.2826-8C>A
|
rs2141053167
|
|
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
|
|
|
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
|
|
|
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile)
|
rs2141053576
|
|
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
|
|
|
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
|
|
|
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=)
|
rs1187492772
|
|
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile)
|
rs1161690227
|
|
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
|
|
|
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly)
|
rs2141054763
|
|
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
|
|
|
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
|
|
|
NM_001329943.3(KIAA0586):c.2944+13G>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+16T>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+17T>G
|
|
|
NM_001329943.3(KIAA0586):c.2944+19T>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+24dup
|
rs768128741
|
|
NM_001329943.3(KIAA0586):c.2945-1G>C
|
|
|
NM_001329943.3(KIAA0586):c.2945-4T>C
|
|
|
NM_001329943.3(KIAA0586):c.2945-9del
|
|
|
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
|
|
|
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
|
|
|
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=)
|
rs1284387922
|
|
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys)
|
rs2140372595
|
|
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
|
|
|
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
|
|
|
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp)
|
rs182274649
|
|
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val)
|
rs767378597
|
|
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
|
|
|
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
|
|
|
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp)
|
rs2042116751
|
|
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys)
|
rs367811307
|
|
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
|
|
|
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
|
|
|
NM_001329943.3(KIAA0586):c.3142_3144+5del
|
rs771240219
|
|
NM_001329943.3(KIAA0586):c.3144+15del
|
|
|
NM_001329943.3(KIAA0586):c.3144+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>G
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>T
|
|
|
NM_001329943.3(KIAA0586):c.3144+2T>C
|
|
|
NM_001329943.3(KIAA0586):c.3144+3A>G
|
rs956345090
|
|
NM_001329943.3(KIAA0586):c.3144+7G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-12T>C
|
|
|
NM_001329943.3(KIAA0586):c.3145-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
|
|
|
NM_001329943.3(KIAA0586):c.3145-8T>C
|
|
|
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys)
|
rs1472123420
|
|
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro)
|
rs1453619075
|
|
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala)
|
rs386777947
|
|
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
|
|
|
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
|
|
|
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
|
|
|
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
|
|
|
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys)
|
rs2140404760
|
|
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu)
|
rs2141182370
|
|
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
|
|
|
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=)
|
rs528416301
|
|
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
|
|
|
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
|
|
|
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn)
|
rs2042507801
|
|
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly)
|
rs187091758
|
|
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
|
|
|
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
|
|
|
NM_001329943.3(KIAA0586):c.3304+5A>C
|
|
|
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG
|
rs2141183723
|
|
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3305-17T>A
|
|
|
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
|
|
|
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
|
|
|
NM_001329943.3(KIAA0586):c.3305-3T>C
|
|
|
NM_001329943.3(KIAA0586):c.3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup
|
rs5808973
|
|
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn)
|
rs2141192396
|
|
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
|
|
|
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
|
|
|
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
|
|
|
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
|
|
|
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs)
|
rs2141193077
|
|
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile)
|
rs2141193303
|
|
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
|
|
|
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del)
|
rs770153870
|
|
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
|
|
|
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
|
|
|
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr)
|
rs2141193523
|
|
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
|
|
|
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
|
|
|
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=)
|
rs2141193804
|
|
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe)
|
rs1409454378
|
|
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=)
|
rs2140373069
|
|
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
|
|
|
NM_001329943.3(KIAA0586):c.340+13T>G
|
|
|
NM_001329943.3(KIAA0586):c.340+14A>G
|
|
|
NM_001329943.3(KIAA0586):c.340+25dup
|
rs770708728
|
|
NM_001329943.3(KIAA0586):c.340+6del
|
|
|
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
|
|
|
NM_001329943.3(KIAA0586):c.341-17G>C
|
|
|
NM_001329943.3(KIAA0586):c.341-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys)
|
rs2141194171
|
|
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
|
|
|
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu)
|
rs2042587558
|
|
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
|
|
|
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr)
|
rs2141194729
|
|
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val)
|
rs2141194889
|
|
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys)
|
rs778492541
|
|
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
|
|
|
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=)
|
rs759687892
|
|
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
|
|
|
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del)
|
rs778377845
|
|
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
|
|
|
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg)
|
rs2141195740
|
|
NM_001329943.3(KIAA0586):c.3527+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.3528-15T>G
|
rs752835695
|
|
NM_001329943.3(KIAA0586):c.3528-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
|
|
|
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
|
|
|
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
|
|
|
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu)
|
rs750251144
|
|
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=)
|
rs367676896
|
|
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln)
|
rs754567597
|
|
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn)
|
rs780785984
|
|
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs)
|
rs2141202895
|
|
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=)
|
rs2141202944
|
|
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=)
|
rs368352741
|
|
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His)
|
rs368352741
|
|
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
|
|
|
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=)
|
rs1489789614
|
|
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys)
|
rs746136288
|
|
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
|
|
|
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala)
|
rs1292752792
|
|
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
|
|
|
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser)
|
rs183240083
|
|
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
|
|
|
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys)
|
rs2140422825
|
|
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=)
|
rs372215354
|
|
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
|
|
|
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val)
|
rs2037453984
|
|
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
|
|
|
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg)
|
rs1595348112
|
|
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
|
|
|
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
|
|
|
NM_001329943.3(KIAA0586):c.3781+18A>G
|
|
|
NM_001329943.3(KIAA0586):c.3782-18T>A
|
|
|
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
|
|
|
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
|
|
|
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr)
|
rs756960694
|
|
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val)
|
rs1425457941
|
|
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
|
|
|
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
|
|
|
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
|
|
|
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del)
|
rs1399193101
|
|
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
|
|
|
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr)
|
rs748648408
|
|
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
|
|
|
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3858+16C>T
|
|
|
NM_001329943.3(KIAA0586):c.3858+4A>G
|
rs2042748796
|
|
NM_001329943.3(KIAA0586):c.3858+7A>G
|
rs771949597
|
|
NM_001329943.3(KIAA0586):c.3858+9C>T
|
|
|
NM_001329943.3(KIAA0586):c.3859-13A>G
|
|
|
NM_001329943.3(KIAA0586):c.3859-16T>A
|
|
|
NM_001329943.3(KIAA0586):c.3859-3_3865del
|
|
|
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
|
|
|
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu)
|
rs2141237535
|
|
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=)
|
rs779179754
|
|
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
|
|
|
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
|
|
|
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)
|
rs745949846
|
|
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)
|
rs745949846
|
|
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
|
|
|
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val)
|
rs1369311999
|
|
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
|
|
|
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln)
|
rs1270703288
|
|
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=)
|
rs757393939
|
|
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3990+19G>A
|
|
|
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
|
|
|
NM_001329943.3(KIAA0586):c.3991-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
|
|
|
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
|
|
|
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
|
|
|
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg)
|
rs1260148388
|
|
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)
|
rs762932867
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His)
|
rs2043350107
|
|
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile)
|
rs2043350903
|
|
NM_001329943.3(KIAA0586):c.410+3A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1347C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1348dup
|
|
|
NM_001329943.3(KIAA0586):c.411-1349C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1355C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1364A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1371G>A
|
rs2038350104
|
|
NM_001329943.3(KIAA0586):c.411-1380G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1381C>T
|
rs749413114
|
|
NM_001329943.3(KIAA0586):c.411-1404G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1405T>C
|
|
|
NM_001329943.3(KIAA0586):c.411-1409C>T
|
rs2140521828
|
|
NM_001329943.3(KIAA0586):c.411-1427A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1431C>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1448G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
|
|
|
NM_001329943.3(KIAA0586):c.411-1491G>T
|
rs2140520688
|
|
NM_001329943.3(KIAA0586):c.411-1494C>A
|
|
|
NM_001329943.3(KIAA0586):c.411-15dup
|
|
|
NM_001329943.3(KIAA0586):c.411-4A>G
|
|
|
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
|
|
|
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
|
|
|
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
|
|
|
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr)
|
rs2141310739
|
|
NM_001329943.3(KIAA0586):c.4168+13A>G
|
rs375052904
|
|
NM_001329943.3(KIAA0586):c.4168+5A>G
|
|
|
NM_001329943.3(KIAA0586):c.4168+6C>T
|
|
|
NM_001329943.3(KIAA0586):c.4168+8C>A
|
rs1331278032
|
|
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
|
|
|
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=)
|
rs369935221
|
|
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
|
|
|
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val)
|
rs1164983892
|
|
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs)
|
rs2141430525
|
|
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly)
|
rs2141430559
|
|
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp)
|
rs746899731
|
|
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
|
|
|
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile)
|
rs1356513118
|
|
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
|
|
|
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly)
|
rs548063080
|
|
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser)
|
rs2141431422
|
|
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4323+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.4323+3A>G
|
|
|
NM_001329943.3(KIAA0586):c.4323+4C>T
|
rs2044176022
|
|
NM_001329943.3(KIAA0586):c.4323+5C>G
|
rs2141431529
|
|
NM_001329943.3(KIAA0586):c.4324-11A>T
|
|
|
NM_001329943.3(KIAA0586):c.4324-16A>G
|
rs376320678
|
|
NM_001329943.3(KIAA0586):c.4324-4T>G
|
rs1429230924
|
|
NM_001329943.3(KIAA0586):c.4324-6A>G
|
|
|
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=)
|
rs2141479527
|
|
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=)
|
rs2141479570
|
|
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val)
|
rs2141479700
|
|
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile)
|
rs2141479904
|
|
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln)
|
rs1051498929
|
|
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
|
|
|
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
|
|
|
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
|
|
|
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
|
|
|
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
|
|
|
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
|
|
|
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4429+11T>A
|
|
|
NM_001329943.3(KIAA0586):c.4429+16A>G
|
|
|
NM_001329943.3(KIAA0586):c.4429+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.4429+4A>G
|
rs1017273332
|
|
NM_001329943.3(KIAA0586):c.4430-15T>A
|
rs1212572767
|
|
NM_001329943.3(KIAA0586):c.4430-15T>C
|
|
|
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
|
|
|
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=)
|
rs780867053
|
|
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
|
|
|
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
|
|
|
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
|
|
|
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)
|
rs2140098022
|
|
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His)
|
rs2140098041
|
|
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu)
|
rs370303493
|
|
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
|
|
|
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
|
|
|
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4495+12A>G
|
rs2140098467
|
|
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
|
|
|
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
|
|
|
NM_001329943.3(KIAA0586):c.4495+3729T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+3730T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3732T>A
|
|
|
NM_001329943.3(KIAA0586):c.4495+3737T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3755del
|
rs2140128017
|
|
NM_001329943.3(KIAA0586):c.4495+3762T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+3767A>T
|
rs2140128191
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>G
|
rs968172462
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>T
|
rs968172462
|
|
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
|
|
|
NM_001329943.3(KIAA0586):c.4495+3796G>T
|
|
|
NM_001329943.3(KIAA0586):c.4495+3797T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+4A>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+6A>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+7T>C
|
|
|
NM_001329943.3(KIAA0586):c.4496-17G>A
|
|
|
NM_001329943.3(KIAA0586):c.4496-3794A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3799A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3803T>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3814G>A
|
rs2140128786
|
|
NM_001329943.3(KIAA0586):c.4496-3816C>T
|
|
|
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
|
|
|
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val)
|
rs2140156164
|
|
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
|
|
|
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=)
|
rs2140156234
|
|
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
|
|
|
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
|
|
|
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
|
|
|
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
|
|
|
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr)
|
rs2140156359
|
|
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
|
|
|
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
|
|
|
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu)
|
rs542432352
|
|
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
|
|
|
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His)
|
rs2140156856
|
|
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=)
|
rs2140157005
|
|
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn)
|
rs2047081237
|
|
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
|
|
|
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
|
|
|
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=)
|
rs1301341396
|
|
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
|
|
|
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
|
|
|
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
|
|
|
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
|
|
|
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
|
|
|
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu)
|
rs1202184988
|
|
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
|
|
|
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
|
|
|
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
|
|
|
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
|
|
|
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
|
|
|
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu)
|
rs748340175
|
|
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
|
|
|
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
|
|
|
NM_001329943.3(KIAA0586):c.585+17_585+29del
|
|
|
NM_001329943.3(KIAA0586):c.586-16G>T
|
|
|
NM_001329943.3(KIAA0586):c.586-17T>C
|
|
|
NM_001329943.3(KIAA0586):c.586-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
|
|
|
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly)
|
rs2038635110
|
|
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
|
|
|
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs)
|
rs2140565674
|
|
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
|
|
|
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
|
|
|
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
|
|
|
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser)
|
rs2140373651
|
|
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
|
|
|
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
|
|
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
|
|
|
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu)
|
rs1373940232
|
|
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
|
|
|
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
|
|
|
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
|
|
|
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln)
|
rs774888789
|
|
NM_001329943.3(KIAA0586):c.729C>T (p.His243=)
|
rs774888789
|
|
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)
|
rs376338487
|
|
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met)
|
rs2140567428
|
|
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu)
|
rs577258273
|
|
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
|
|
|
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del)
|
rs1290912165
|
|
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=)
|
rs1487078229
|
|
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs)
|
rs1203751352
|
|
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His)
|
rs2140568101
|
|
NM_001329943.3(KIAA0586):c.807+10A>C
|
rs368833496
|
|
NM_001329943.3(KIAA0586):c.807+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.807+19G>C
|
|
|
NM_001329943.3(KIAA0586):c.807+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.807+8del
|
rs2140568510
|
|
NM_001329943.3(KIAA0586):c.807+9A>G
|
rs2140568561
|
|
NM_001329943.3(KIAA0586):c.808-13T>G
|
rs1364907790
|
|
NM_001329943.3(KIAA0586):c.808-20A>C
|
|
|
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
|
|
|
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr)
|
rs1417240682
|
|
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys)
|
rs2039078597
|
|
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
|
|
|
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
|
|
|
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu)
|
rs769369839
|
|
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
|
|
|
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr)
|
rs2039080763
|
|
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=)
|
rs2140662420
|
|
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
|
|
|
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
|
|
|
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu)
|
rs2140662489
|
|
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
|
|
|
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
|
|
|
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
|
|
|
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
|
|
|
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly)
|
rs2140663692
|
|
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
|
|
|
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs)
|
rs2140664007
|
|
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
|
|
|
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
|
|
|
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe)
|
rs2140664162
|
|
NM_001329943.3(KIAA0586):c.961+11G>T
|
|
|
NM_001329943.3(KIAA0586):c.961+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.961+6_961+7del
|
rs1308763926
|
|
NM_001329943.3(KIAA0586):c.962-10dup
|
rs1431902070
|
|
NM_001329943.3(KIAA0586):c.962-14A>C
|
rs200528557
|
|
NM_001329943.3(KIAA0586):c.962-19A>T
|
|
|
NM_001329943.3(KIAA0586):c.962-3A>C
|
|
|
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
|
|
|
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile)
|
rs1317366636
|
|
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val)
|
rs780810159
|
|
NM_001378615.1(CC2D2A):c.-178T>C
|
rs886059135
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg)
|
rs762998472
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=)
|
rs886059136
|
|
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn)
|
rs863225177
|
|
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)
|
rs754221308
|
|
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile)
|
rs886059137
|
|
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)
|
rs747187783
|
|
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>A (p.Val660Ile)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
NM_001378615.1(CC2D2A):c.2338+1G>C
|
rs2109050324
|
|
NM_001378615.1(CC2D2A):c.2339-2A>C
|
rs1719092280
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
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.2624C>A (p.Ser875Ter)
|
rs200904521
|
|
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)
|
rs863225178
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
|
|
|
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly)
|
rs574421639
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)
|
rs386833749
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)
|
rs1719718448
|
|
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)
|
rs2109070129
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)
|
rs863225169
|
|
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=)
|
rs753770061
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3398+13T>C
|
rs886059183
|
|
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn)
|
rs371998498
|
|
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)
|
rs765661601
|
|
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)
|
rs863225171
|
|
NM_001378615.1(CC2D2A):c.3772-1G>T
|
rs863225172
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu)
|
rs1560192615
|
|
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs)
|
rs763735590
|
|
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu)
|
rs778519147
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)
|
rs1720848250
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)
|
rs1577396376
|
|
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)
|
rs557038070
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
|
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn)
|
rs1407804611
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala)
|
rs886059185
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)
|
rs1553845300
|
|
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)
|
rs863225179
|
|
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu)
|
rs1485264498
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=)
|
rs1721486758
|
|
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu)
|
rs886059186
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs)
|
rs1392635342
|
|
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)
|
rs746415983
|
|
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
|
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
|
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=)
|
rs764952763
|
|
NM_001382391.1(CSPP1):c.-10-13T>A
|
|
|
NM_001382391.1(CSPP1):c.-10-1G>T
|
|
|
NM_001382391.1(CSPP1):c.-10-20A>G
|
|
|
NM_001382391.1(CSPP1):c.-10-5T>A
|
rs770289522
|
|
NM_001382391.1(CSPP1):c.-10-5del
|
|
|
NM_001382391.1(CSPP1):c.-10-5dup
|
rs536000854
|
|
NM_001382391.1(CSPP1):c.-103C>T
|
rs202181896
|
|
NM_001382391.1(CSPP1):c.-104A>G
|
|
|
NM_001382391.1(CSPP1):c.-104A>T
|
rs1805077545
|
|
NM_001382391.1(CSPP1):c.-106C>T
|
rs2129538421
|
|
NM_001382391.1(CSPP1):c.-108C>T
|
rs2129538420
|
|
NM_001382391.1(CSPP1):c.-121A>C
|
|
|
NM_001382391.1(CSPP1):c.-125C>A
|
|
|
NM_001382391.1(CSPP1):c.-128C>T
|
rs775895663
|
|
NM_001382391.1(CSPP1):c.-138C>A
|
rs373705126
|
|
NM_001382391.1(CSPP1):c.-138C>T
|
|
|
NM_001382391.1(CSPP1):c.-139G>C
|
|
|
NM_001382391.1(CSPP1):c.-142C>A
|
rs1023702149
|
|
NM_001382391.1(CSPP1):c.-143T>A
|
rs1164437313
|
|
NM_001382391.1(CSPP1):c.-147C>G
|
|
|
NM_001382391.1(CSPP1):c.-149T>A
|
rs768356971
|
|
NM_001382391.1(CSPP1):c.-149T>G
|
|
|
NM_001382391.1(CSPP1):c.-150A>T
|
|
|
NM_001382391.1(CSPP1):c.-36C>T
|
|
|
NM_001382391.1(CSPP1):c.-43A>C
|
|
|
NM_001382391.1(CSPP1):c.-45_-42del
|
rs762530713
|
|
NM_001382391.1(CSPP1):c.-47A>G
|
|
|
NM_001382391.1(CSPP1):c.-54_-51del
|
|
|
NM_001382391.1(CSPP1):c.-56del
|
|
|
NM_001382391.1(CSPP1):c.-57C>G
|
|
|
NM_001382391.1(CSPP1):c.-66G>A
|
rs2129538438
|
|
NM_001382391.1(CSPP1):c.-68G>A
|
rs2129538437
|
|
NM_001382391.1(CSPP1):c.-68G>C
|
|
|
NM_001382391.1(CSPP1):c.-69C>T
|
rs1294428066
|
|
NM_001382391.1(CSPP1):c.-73G>C
|
|
|
NM_001382391.1(CSPP1):c.-74G>A
|
|
|
NM_001382391.1(CSPP1):c.-80C>G
|
rs745897839
|
|
NM_001382391.1(CSPP1):c.-85T>C
|
rs2129538434
|
|
NM_001382391.1(CSPP1):c.-90C>T
|
|
|
NM_001382391.1(CSPP1):c.-91G>A
|
rs200332502
|
|
NM_001382391.1(CSPP1):c.-94A>G
|
rs1382795214
|
|
NM_001382391.1(CSPP1):c.-96C>G
|
rs751458139
|
|
NM_001382391.1(CSPP1):c.100-11G>A
|
|
|
NM_001382391.1(CSPP1):c.100-12T>C
|
|
|
NM_001382391.1(CSPP1):c.100-2A>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>T
|
rs2129547115
|
|
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
|
|
|
NM_001382391.1(CSPP1):c.1023-14C>T
|
|
|
NM_001382391.1(CSPP1):c.1023-16G>A
|
|
|
NM_001382391.1(CSPP1):c.1023-16_1023-13del
|
|
|
NM_001382391.1(CSPP1):c.1023-3T>C
|
|
|
NM_001382391.1(CSPP1):c.1023-4T>G
|
|
|
NM_001382391.1(CSPP1):c.1023-7dup
|
rs781187284
|
|
NM_001382391.1(CSPP1):c.1023-9T>A
|
|
|
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
|
|
|
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
|
|
|
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
|
|
|
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr)
|
rs2129547771
|
|
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
|
|
|
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys)
|
rs1815423493
|
|
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
|
|
|
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
|
|
|
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
|
|
|
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
|
|
|
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe)
|
rs1807945498
|
|
NM_001382391.1(CSPP1):c.1093+16C>A
|
|
|
NM_001382391.1(CSPP1):c.1093+16C>G
|
|
|
NM_001382391.1(CSPP1):c.1093+17del
|
rs2129547787
|
|
NM_001382391.1(CSPP1):c.1093+3A>G
|
rs1815432822
|
|
NM_001382391.1(CSPP1):c.1094-6A>G
|
|
|
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly)
|
rs2129549763
|
|
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=)
|
rs768714635
|
|
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
|
|
|
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)
|
rs374703898
|
|
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
|
|
|
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys)
|
rs748162424
|
|
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
|
|
|
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly)
|
rs1816951976
|
|
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=)
|
rs566786304
|
|
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)
|
rs886044058
|
|
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
|
|
|
NM_001382391.1(CSPP1):c.1187+19T>A
|
|
|
NM_001382391.1(CSPP1):c.1187+1G>A
|
|
|
NM_001382391.1(CSPP1):c.1187+7A>G
|
|
|
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)
|
rs760205035
|
|
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro)
|
rs760205035
|
|
NM_001382391.1(CSPP1):c.1188-15T>G
|
|
|
NM_001382391.1(CSPP1):c.1188-20A>C
|
|
|
NM_001382391.1(CSPP1):c.1188-2A>G
|
|
|
NM_001382391.1(CSPP1):c.1188-3T>C
|
|
|
NM_001382391.1(CSPP1):c.1188-5T>A
|
|
|
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
|
|
|
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val)
|
rs2129550393
|
|
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
|
|
|
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser)
|
rs370123119
|
|
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
|
|
|
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
|
|
|
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser)
|
rs201880658
|
|
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=)
|
rs775044108
|
|
NM_001382391.1(CSPP1):c.1245+14del
|
rs760948267
|
|
NM_001382391.1(CSPP1):c.1245+22_1245+36del
|
rs754206451
|
|
NM_001382391.1(CSPP1):c.1245+7G>A
|
|
|
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
|
|
|
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=)
|
rs1283210787
|
|
NM_001382391.1(CSPP1):c.1288-11_1288-8del
|
|
|
NM_001382391.1(CSPP1):c.1288-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1288-12del
|
|
|
NM_001382391.1(CSPP1):c.1288-12dup
|
rs759923250
|
|
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
|
|
|
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
|
|
|
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala)
|
rs2129550845
|
|
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
|
|
|
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=)
|
rs1817847996
|
|
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val)
|
rs2129550849
|
|
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser)
|
rs2129550850
|
|
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
|
|
|
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
|
|
|
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
|
|
|
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro)
|
rs747312980
|
|
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu)
|
rs376880257
|
|
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
|
|
|
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
|
|
|
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
|
|
|
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg)
|
rs2129550870
|
|
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
|
|
|
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu)
|
rs767353646
|
|
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
|
|
|
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
|
|
|
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp)
|
rs2129550877
|
|
NM_001382391.1(CSPP1):c.1497-6A>G
|
|
|
NM_001382391.1(CSPP1):c.1497-8T>C
|
|
|
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
|
|
|
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
|
|
|
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs)
|
rs1818317027
|
|
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=)
|
rs2129551348
|
|
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
|
|
|
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
|
|
|
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs)
|
rs752908017
|
|
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)
|
rs756752153
|
|
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=)
|
rs1818326006
|
|
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
|
|
|
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
|
|
|
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=)
|
rs2129551359
|
|
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe)
|
rs1818329945
|
|
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys)
|
rs2129551362
|
|
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile)
|
rs2129551363
|
|
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
|
|
|
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
|
|
|
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
|
|
|
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys)
|
rs766545455
|
|
NM_001382391.1(CSPP1):c.1618+12A>G
|
rs368578567
|
|
NM_001382391.1(CSPP1):c.1618+15G>T
|
|
|
NM_001382391.1(CSPP1):c.1618+20A>C
|
rs756484052
|
|
NM_001382391.1(CSPP1):c.1618+8A>G
|
|
|
NM_001382391.1(CSPP1):c.1619-13T>C
|
|
|
NM_001382391.1(CSPP1):c.1619-8T>C
|
rs2129551458
|
|
NM_001382391.1(CSPP1):c.1619-8del
|
|
|
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
|
|
|
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
|
|
|
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=)
|
rs1470629361
|
|
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu)
|
rs772097768
|
|
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro)
|
rs369723292
|
|
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg)
|
rs369723292
|
|
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr)
|
rs1028530380
|
|
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn)
|
rs2129551469
|
|
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
|
|
|
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
|
|
|
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
|
|
|
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu)
|
rs2129551479
|
|
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
|
|
|
NM_001382391.1(CSPP1):c.1698-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1698-13_1698-12del
|
|
|
NM_001382391.1(CSPP1):c.1698-1G>C
|
rs2129554176
|
|
NM_001382391.1(CSPP1):c.1698-4G>C
|
|
|
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
|
|
|
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys)
|
rs375847469
|
|
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
|
|
|
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg)
|
rs2129554180
|
|
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
|
|
|
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
|
|
|
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
|
|
|
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met)
|
rs2129554181
|
|
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
|
|
|
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
|
|
|
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del)
|
rs1821332797
|
|
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
|
|
|
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
|
|
|
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
|
|
|
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
|
|
|
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs)
|
rs1409618249
|
|
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
|
|
|
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=)
|
rs1036498137
|
|
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs)
|
rs1021950925
|
|
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)
|
rs1821344202
|
|
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
|
|
|
NM_001382391.1(CSPP1):c.1828-11A>G
|
|
|
NM_001382391.1(CSPP1):c.1828-1G>C
|
|
|
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln)
|
rs771386855
|
|
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
|
|
|
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)
|
rs1189289587
|
|
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
|
|
|
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
|
|
|
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=)
|
rs1822589349
|
|
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys)
|
rs2129555264
|
|
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly)
|
rs767674652
|
|
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr)
|
rs752873157
|
|
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro)
|
rs2129555267
|
|
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu)
|
rs2129541315
|
|
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=)
|
rs561521861
|
|
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp)
|
rs1807963359
|
|
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn)
|
rs1822601037
|
|
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp)
|
rs923561338
|
|
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
|
|
|
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
|
|
|
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
|
|
|
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser)
|
rs1822608915
|
|
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
|
|
|
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val)
|
rs2129555283
|
|
NM_001382391.1(CSPP1):c.1975+18A>C
|
|
|
NM_001382391.1(CSPP1):c.1975+5G>A
|
|
|
NM_001382391.1(CSPP1):c.1975+6T>C
|
|
|
NM_001382391.1(CSPP1):c.1976-20G>A
|
|
|
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
|
|
|
NM_001382391.1(CSPP1):c.199+14T>A
|
rs2129541674
|
|
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
|
|
|
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)
|
rs1201375699
|
|
NM_001382391.1(CSPP1):c.200-13_200-11del
|
rs766452341
|
|
NM_001382391.1(CSPP1):c.200-13del
|
|
|
NM_001382391.1(CSPP1):c.200-18_200-16del
|
|
|
NM_001382391.1(CSPP1):c.200-5T>C
|
|
|
NM_001382391.1(CSPP1):c.200-5del
|
|
|
NM_001382391.1(CSPP1):c.200-5dup
|
rs775661180
|
|
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg)
|
rs766230896
|
|
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
|
|
|
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr)
|
rs1226391179
|
|
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu)
|
rs761009916
|
|
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu)
|
rs764240953
|
|
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
|
|
|
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro)
|
rs2129558004
|
|
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
|
|
|
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
|
|
|
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=)
|
rs2129558010
|
|
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser)
|
rs2129558011
|
|
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
|
|
|
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
|
|
|
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter)
|
rs1825358020
|
|
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu)
|
rs1825359470
|
|
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=)
|
rs1375950004
|
|
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
|
|
|
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
|
|
|
NM_001382391.1(CSPP1):c.2128+11A>C
|
|
|
NM_001382391.1(CSPP1):c.2128+23_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+24_2128+36del
|
|
|
NM_001382391.1(CSPP1):c.2128+25_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+34_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+35_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+7_2128+25del
|
rs2129558020
|
|
NM_001382391.1(CSPP1):c.2129-16A>G
|
rs1826203961
|
|
NM_001382391.1(CSPP1):c.2129-2A>G
|
rs2129559034
|
|
NM_001382391.1(CSPP1):c.2129-4C>G
|
|
|
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val)
|
rs780885390
|
|
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
|
|
|
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=)
|
rs887024306
|
|
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly)
|
rs778822396
|
|
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu)
|
rs201974031
|
|
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser)
|
rs2129559050
|
|
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
|
|
|
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
|
|
|
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
|
|
|
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe)
|
rs2129559060
|
|
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=)
|
rs1826220671
|
|
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
|
|
|
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
|
|
|
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys)
|
rs2129559063
|
|
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
|
|
|
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
|
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys)
|
rs1826224959
|
|
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro)
|
rs769971911
|
|
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu)
|
rs2129559079
|
|
NM_001382391.1(CSPP1):c.2241+15G>A
|
|
|
NM_001382391.1(CSPP1):c.2241+19A>C
|
|
|
NM_001382391.1(CSPP1):c.2241+20_2241+25del
|
rs2129559087
|
|
NM_001382391.1(CSPP1):c.2241+9C>G
|
rs1826230466
|
|
NM_001382391.1(CSPP1):c.2242-13T>C
|
|
|
NM_001382391.1(CSPP1):c.2242-18_2242-15del
|
rs747115433
|
|
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
|
|
|
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.2263G>A (p.Glu755Lys)
|
|
|
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
|
|
|
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
|
|
|
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs)
|
rs1827098991
|
|
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
|
|
|
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
|
|
|
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)
|
rs587777140
|
|
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
|
|
|
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=)
|
rs2129560136
|
|
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del)
|
rs2129560139
|
|
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
|
|
|
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=)
|
rs1827105533
|
|
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=)
|
rs2129560142
|
|
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
|
|
|
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=)
|
rs2129560155
|
|
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=)
|
rs754878483
|
|
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
|
|
|
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
|
|
|
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
|
|
|
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
|
|
|
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
|
|
|
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
|
|
|
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs)
|
rs1375090095
|
|
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs)
|
rs1827118960
|
|
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly)
|
rs1827120184
|
|
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
|
|
|
NM_001382391.1(CSPP1):c.2391+3A>T
|
rs1338097590
|
|
NM_001382391.1(CSPP1):c.2391+4C>T
|
|
|
NM_001382391.1(CSPP1):c.2392-12T>G
|
rs1322610870
|
|
NM_001382391.1(CSPP1):c.2392-17_2392-12del
|
rs763447128
|
|
NM_001382391.1(CSPP1):c.2392-8T>C
|
|
|
NM_001382391.1(CSPP1):c.2392-8_2392-4del
|
rs528357182
|
|
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val)
|
rs2129560252
|
|
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
|
|
|
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del)
|
rs773946059
|
|
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
|
|
|
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
|
|
|
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=)
|
rs1209655756
|
|
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr)
|
rs1283124706
|
|
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)
|
rs761382780
|
|
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs)
|
rs863225191
|
|
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs)
|
rs863225191
|
|
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del)
|
rs750079297
|
|
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
|
|
|
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=)
|
rs1312436989
|
|
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
|
|
|
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
|
|
|
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
|
|
|
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
|
|
|
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
|
|
|
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
|
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
|
|
|
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu)
|
rs752478502
|
|
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
|
|
|
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs)
|
rs1554604482
|
|
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
|
|
|
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
|
|
|
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys)
|
rs909732603
|
|
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
|
|
|
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser)
|
rs1484918109
|
|
NM_001382391.1(CSPP1):c.2538+13C>A
|
|
|
NM_001382391.1(CSPP1):c.2538+18A>G
|
|
|
NM_001382391.1(CSPP1):c.2538+19T>C
|
|
|
NM_001382391.1(CSPP1):c.2538+1G>T
|
rs2129560295
|
|
NM_001382391.1(CSPP1):c.2538+20G>A
|
|
|
NM_001382391.1(CSPP1):c.2539-13_2539-4del
|
rs753606187
|
|
NM_001382391.1(CSPP1):c.2539-18A>G
|
|
|
NM_001382391.1(CSPP1):c.2539-4del
|
rs754861164
|
|
NM_001382391.1(CSPP1):c.2539-8T>A
|
|
|
NM_001382391.1(CSPP1):c.2540del (p.His847fs)
|
rs1563720581
|
|
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
|
|
|
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)
|
rs587777143
|
|
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs)
|
rs2129561783
|
|
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del)
|
rs1828417560
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu)
|
rs1828419474
|
|
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
|
|
|
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
|
|
|
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
|
|
|
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
|
|
|
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile)
|
rs1828425319
|
|
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile)
|
rs2129543528
|
|
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
|
|
|
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
|
|
|
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
|
|
|
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe)
|
rs2129561809
|
|
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
|
|
|
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs)
|
rs2129543529
|
|
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp)
|
rs1828434498
|
|
NM_001382391.1(CSPP1):c.2643+11T>C
|
|
|
NM_001382391.1(CSPP1):c.2643+16T>A
|
|
|
NM_001382391.1(CSPP1):c.2643+4T>C
|
|
|
NM_001382391.1(CSPP1):c.2643+4T>G
|
rs748730202
|
|
NM_001382391.1(CSPP1):c.2644-11T>C
|
|
|
NM_001382391.1(CSPP1):c.2644-11T>G
|
|
|
NM_001382391.1(CSPP1):c.2644-12A>G
|
rs2129562431
|
|
NM_001382391.1(CSPP1):c.2644-14T>G
|
rs2129562428
|
|
NM_001382391.1(CSPP1):c.2644-15A>C
|
|
|
NM_001382391.1(CSPP1):c.2644-18G>C
|
|
|
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
|
|
|
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
|
|
|
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
|
|
|
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg)
|
rs779762140
|
|
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
|
|
|
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=)
|
rs2129562477
|
|
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly)
|
rs2129562479
|
|
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
|
|
|
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=)
|
rs2129562485
|
|
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His)
|
rs1828818248
|
|
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
|
|
|
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys)
|
rs757750162
|
|
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
|
|
|
NM_001382391.1(CSPP1):c.2711-13T>C
|
|
|
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met)
|
rs374300498
|
|
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
|
|
|
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)
|
rs863225190
|
|
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly)
|
rs1586651470
|
|
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
|
|
|
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
|
|
|
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
|
|
|
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu)
|
rs779579881
|
|
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
|
|
|
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp)
|
rs367889164
|
|
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
|
|
|
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln)
|
rs764280843
|
|
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys)
|
rs776600422
|
|
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=)
|
rs2129562840
|
|
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
|
|
|
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
|
|
|
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
|
|
|
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)
|
rs537456518
|
|
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
|
|
|
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
|
|
|
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn)
|
rs1182648944
|
|
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
|
|
|
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His)
|
rs1402959828
|
|
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
|
|
|
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
|
|
|
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
|
|
|
NM_001382391.1(CSPP1):c.2828+16C>A
|
rs749065903
|
|
NM_001382391.1(CSPP1):c.2828+20T>A
|
rs2129562857
|
|
NM_001382391.1(CSPP1):c.2828+2C>T
|
rs1828946939
|
|
NM_001382391.1(CSPP1):c.2829-7T>C
|
|
|
NM_001382391.1(CSPP1):c.2829-8A>G
|
|
|
NM_001382391.1(CSPP1):c.2829-9_2968+11del
|
rs1554614893
|
|
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
|
|
|
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
|
|
|
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
|
|
|
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=)
|
rs1586718478
|
|
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
|
|
|
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala)
|
rs770066826
|
|
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser)
|
rs770066826
|
|
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu)
|
rs781283590
|
|
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg)
|
rs1480057271
|
|
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
|
|
|
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly)
|
rs1830675527
|
|
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
|
|
|
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=)
|
rs2129567311
|
|
NM_001382391.1(CSPP1):c.2968+1G>A
|
rs587777142
|
|
NM_001382391.1(CSPP1):c.2968+5G>A
|
rs1057524684
|
|
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn)
|
rs1830678644
|
|
NM_001382391.1(CSPP1):c.2969-19A>G
|
|
|
NM_001382391.1(CSPP1):c.2969-8T>A
|
|
|
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu)
|
rs993509179
|
|
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=)
|
rs1831352053
|
|
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile)
|
rs750443075
|
|
NM_001382391.1(CSPP1):c.303+5T>C
|
rs1332818013
|
|
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys)
|
rs374717800
|
|
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu)
|
rs374717800
|
|
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val)
|
rs1831355993
|
|
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
|
|
|
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
|
|
|
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
|
|
|
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
|
|
|
NM_001382391.1(CSPP1):c.3109+4dup
|
rs2129568589
|
|
NM_001382391.1(CSPP1):c.3110-1G>A
|
rs1064795687
|
|
NM_001382391.1(CSPP1):c.3110-7A>G
|
rs1832018947
|
|
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
|
|
|
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
|
|
|
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
|
|
|
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)
|
rs200881715
|
|
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
|
|
|
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
|
|
|
NM_001382391.1(CSPP1):c.3157-19del
|
rs1446937196
|
|
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
|
|
|
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
|
|
|
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
|
|
|
NM_001382391.1(CSPP1):c.3220+13_3220+16del
|
|
|
NM_001382391.1(CSPP1):c.3220+1G>A
|
rs773954226
|
|
NM_001382391.1(CSPP1):c.3220+7A>G
|
|
|
NM_001382391.1(CSPP1):c.3220+8T>C
|
|
|
NM_001382391.1(CSPP1):c.3221-10G>A
|
|
|
NM_001382391.1(CSPP1):c.3221-1G>A
|
|
|
NM_001382391.1(CSPP1):c.3221-5C>T
|
|
|
NM_001382391.1(CSPP1):c.3221-9T>A
|
rs753184305
|
|
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
|
|
|
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)
|
rs587777141
|
|
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=)
|
rs1442543547
|
|
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
|
|
|
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
|
|
|
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
|
|
|
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
|
|
|
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
|
|
|
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
|
|
|
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=)
|
rs2129575182
|
|
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
|
|
|
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser)
|
rs774501418
|
|
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
|
|
|
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe)
|
rs754193806
|
|
NM_001382391.1(CSPP1):c.3330+13C>A
|
|
|
NM_001382391.1(CSPP1):c.3330+13C>T
|
|
|
NM_001382391.1(CSPP1):c.3330+17del
|
|
|
NM_001382391.1(CSPP1):c.3330+19T>A
|
|
|
NM_001382391.1(CSPP1):c.3330+1G>C
|
rs1045070965
|
|
NM_001382391.1(CSPP1):c.3330+20C>T
|
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001382391.1(CSPP1):c.3331-10C>T
|
rs774609234
|
|
NM_001382391.1(CSPP1):c.3331-2A>G
|
rs1836992042
|
|
NM_001382391.1(CSPP1):c.3331-7A>C
|
rs2129575934
|
|
NM_001382391.1(CSPP1):c.3331-8A>G
|
|
|
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)
|
rs775362535
|
|
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
|
|
|
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
|
|
|
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer)
|
rs1206214608
|
|
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=)
|
rs2129575946
|
|
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
|
|
|
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del)
|
rs749558548
|
|
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
|
|
|
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
|
|
|
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=)
|
rs1327593032
|
|
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
|
|
|
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg)
|
rs546683385
|
|
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs)
|
rs2129575958
|
|
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer)
|
rs1175214174
|
|
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp)
|
rs1837019445
|
|
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=)
|
rs747965774
|
|
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr)
|
rs2129575962
|
|
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=)
|
rs2129575969
|
|
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
|
|
|
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
|
|
|
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
|
|
|
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser)
|
rs569956227
|
|
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
|
|
|
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg)
|
rs2129575980
|
|
NM_001382391.1(CSPP1):c.3469+10C>T
|
|
|
NM_001382391.1(CSPP1):c.3470-12T>C
|
|
|
NM_001382391.1(CSPP1):c.3470-16C>T
|
|
|
NM_001382391.1(CSPP1):c.3470-20G>A
|
|
|
NM_001382391.1(CSPP1):c.3470-4G>A
|
|
|
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs)
|
rs760082779
|
|
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
|
|
|
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
|
|
|
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs)
|
rs2129576630
|
|
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile)
|
rs1414800888
|
|
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His)
|
rs1837730212
|
|
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs)
|
rs776145236
|
|
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
|
|
|
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala)
|
rs1837735009
|
|
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
|
|
|
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
|
|
|
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=)
|
rs2129576649
|
|
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs)
|
rs1563816165
|
|
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
|
|
|
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
|
|
|
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=)
|
rs760969187
|
|
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
|
|
|
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
|
|
|
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=)
|
rs2129576668
|
|
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His)
|
rs1837760146
|
|
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
|
|
|
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg)
|
rs1026132903
|
|
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
|
|
|
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
|
|
|
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
|
|
|
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
|
|
|
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
|
|
|
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
|
|
|
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
|
|
|
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
|
|
|
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=)
|
rs2129576686
|
|
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
|
|
|
NM_001382391.1(CSPP1):c.385-12T>A
|
|
|
NM_001382391.1(CSPP1):c.385-16del
|
|
|
NM_001382391.1(CSPP1):c.385-9dup
|
|
|
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
|
|
|
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
|
|
|
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
|
|
|
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs)
|
rs1371078806
|
|
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
|
|
|
NM_001382391.1(CSPP1):c.430del (p.Arg144fs)
|
rs863225192
|
|
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
|
|
|
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
|
|
|
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
|
|
|
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
|
|
|
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly)
|
rs1554569071
|
|
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
|
|
|
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val)
|
rs150924296
|
|
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
|
|
|
NM_001382391.1(CSPP1):c.483+2T>A
|
|
|
NM_001382391.1(CSPP1):c.483+6T>C
|
|
|
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
|
|
|
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=)
|
rs1479574918
|
|
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=)
|
rs2129545446
|
|
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala)
|
rs2129545447
|
|
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=)
|
rs1308150996
|
|
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=)
|
rs2129545457
|
|
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
|
|
|
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys)
|
rs1477078769
|
|
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp)
|
rs2129545466
|
|
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
|
|
|
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
|
|
|
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln)
|
rs1807446261
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)
|
rs587777146
|
|
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln)
|
rs193231165
|
|
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
|
|
|
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
|
|
|
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
|
|
|
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
|
|
|
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
|
|
|
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
|
|
|
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
|
|
|
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
|
|
|
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
|
|
|
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His)
|
rs777234205
|
|
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg)
|
rs2129545496
|
|
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
|
|
|
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
|
|
|
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
|
|
|
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro)
|
rs771943937
|
|
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp)
|
rs763959523
|
|
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg)
|
rs2129545507
|
|
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
|
|
|
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn)
|
rs750608589
|
|
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr)
|
rs750608589
|
|
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=)
|
rs2129545515
|
|
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
|
|
|
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly)
|
rs1353287068
|
|
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp)
|
rs1812585066
|
|
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val)
|
rs1812585556
|
|
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
|
|
|
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
|
|
|
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
|
|
|
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=)
|
rs1271272185
|
|
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
|
|
|
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu)
|
rs1812594373
|
|
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
|
|
|
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu)
|
rs1812598635
|
|
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
|
|
|
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=)
|
rs2129545545
|
|
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr)
|
rs761539830
|
|
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys)
|
rs1339310127
|
|
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr)
|
rs1807452107
|
|
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala)
|
rs1585833752
|
|
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
|
|
|
NM_001382391.1(CSPP1):c.923+1G>C
|
rs863225194
|
|
NM_001382391.1(CSPP1):c.923+25_923+29del
|
rs2129545562
|
|
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys)
|
rs2129545557
|
|
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
|
|
|
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
|
|
|
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg)
|
rs1313170509
|
|
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
|
|
|
NM_001382391.1(CSPP1):c.99+5A>G
|
|
|
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val)
|
rs1479905045
|
|
NM_001384732.1(CPLANE1):c.1122-2A>G
|
|
|
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
|
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
|
|
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
|
|
|
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
|
|
|
NM_001384732.1(CPLANE1):c.7234-2_7234del
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
|
|
|
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
|
|
|
NM_003383.5(VLDLR):c.*214C>T
|
rs189180202
|
|
NM_003383.5(VLDLR):c.*351C>G
|
rs1818497609
|
|
NM_003383.5(VLDLR):c.*45C>T
|
rs920949909
|
|
NM_003383.5(VLDLR):c.*517G>C
|
rs886063813
|
|
NM_003383.5(VLDLR):c.*98G>A
|
rs543466401
|
|
NM_003383.5(VLDLR):c.-113C>G
|
rs34433332
|
|
NM_003383.5(VLDLR):c.-302T>C
|
rs1007541973
|
|
NM_003383.5(VLDLR):c.-303C>G
|
rs1816795166
|
|
NM_003383.5(VLDLR):c.-335C>T
|
rs557105742
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
NM_003383.5(VLDLR):c.-99C>G
|
rs1816811812
|
|
NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)
|
|
|
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
|
|
|
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs)
|
rs398122380
|
|
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)
|
rs80338905
|
|
NM_003383.5(VLDLR):c.1374del (p.Glu460fs)
|
rs1586653366
|
|
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu)
|
rs144724569
|
|
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
|
|
|
NM_003383.5(VLDLR):c.1703+10C>G
|
rs372047946
|
|
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
|
|
|
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
|
|
|
NM_003383.5(VLDLR):c.1962+1G>A
|
rs2130801524
|
|
NM_003383.5(VLDLR):c.1962+2T>C
|
rs1563764078
|
|
NM_003383.5(VLDLR):c.1971C>T (p.Val657=)
|
rs1039272492
|
|
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe)
|
rs1818184738
|
|
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=)
|
rs886063811
|
|
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg)
|
rs1454735635
|
|
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe)
|
rs397514750
|
|
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)
|
|
|
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu)
|
rs1818271045
|
|
NM_003383.5(VLDLR):c.2252-2A>C
|
|
|
NM_003383.5(VLDLR):c.2339del (p.Ile780fs)
|
rs80338906
|
|
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=)
|
rs1300402424
|
|
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)
|
rs2130810631
|
|
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
|
|
|
NM_003383.5(VLDLR):c.262dup (p.Arg88fs)
|
rs2130785730
|
|
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
|
|
|
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)
|
rs797046092
|
|
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
|
|
|
NM_003383.5(VLDLR):c.325+1G>A
|
|
|
NM_003383.5(VLDLR):c.325+1del
|
|
|
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
|
|
|
NM_003383.5(VLDLR):c.449-112G>A
|
|
|
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly)
|
rs777739092
|
|
NM_003383.5(VLDLR):c.570G>C (p.Pro190=)
|
rs116556362
|
|
NM_003383.5(VLDLR):c.711C>G (p.Thr237=)
|
rs781637501
|
|
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)
|
rs80338907
|
|
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
|
|
|
NM_003383.5(VLDLR):c.820+1G>A
|
|
|
NM_003383.5(VLDLR):c.828A>C (p.Arg276=)
|
rs777520243
|
|
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)
|
rs886063808
|
|
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)
|
rs886063809
|
|
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)
|
|
|
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro)
|
rs1817930978
|
|
NM_003611.3(OFD1):c.710del (p.Lys237fs)
|
rs312262845
|
|
NM_004056.6(CA8):c.100+1G>A
|
rs1563390893
|
|
NM_004056.6(CA8):c.298T>C (p.Ser100Pro)
|
rs267606695
|
|
NM_004056.6(CA8):c.475A>T (p.Lys159Ter)
|
rs79267946
|
|
NM_004056.6(CA8):c.730dup (p.Gln244fs)
|
rs1807291595
|
|
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp)
|
rs746252249
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
|
|
|
NM_014704.4(CEP104):c.1485+1G>A
|
|
|
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
|
|
|
NM_014704.4(CEP104):c.182del (p.Leu61fs)
|
|
|
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)
|
rs1189678912
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
|
|
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
|
|
|
NM_014714.4(IFT140):c.3141+1G>T
|
rs764770536
|
|
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
|
|
|
NM_014714.4(IFT140):c.3454-488_4182+2588dup
|
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
|
|
|
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
|
|
|
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
|
|
|
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
|
|
|
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
|
|
|
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)
|
rs753611141
|
|
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
|
|
|
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro)
|
rs769031961
|
|
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)
|
|
|
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)
|
rs869025292
|
|
NM_015160.3(PMPCA):c.634-266T>G
|
rs755207442
|
|
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)
|
rs1057519454
|
|
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)
|
|
|
NM_015160.3(PMPCA):c.71+3G>A
|
|
|
NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)
|
|
|
NM_015160.3(PMPCA):c.897+6G>A
|
rs150776126
|
|
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.100C>G (p.Arg34Gly)
|
rs565245381
|
|
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
|
rs200773352
|
|
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)
|
rs863225217
|
|
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)
|
rs797045918
|
|
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)
|
rs181526554
|
|
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)
|
rs1555616593
|
|
NM_015272.5(RPGRIP1L):c.1243+1G>A
|
rs863225218
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys)
|
rs776941281
|
|
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)
|
rs1967370164
|
|
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu)
|
rs1029054579
|
|
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu)
|
rs976110882
|
|
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.1699+14G>T
|
rs188075133
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)
|
rs2151128525
|
|
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)
|
rs863225216
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)
|
rs981992752
|
|
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)
|
rs745879566
|
|
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)
|
rs138669723
|
|
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)
|
rs267607020
|
|
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His)
|
rs574091991
|
|
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)
|
rs121918200
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)
|
rs387906243
|
|
NM_015272.5(RPGRIP1L):c.230+14G>A
|
rs1970739259
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>A
|
rs863225215
|
|
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)
|
rs1966518935
|
|
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)
|
rs1970448329
|
|
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)
|
rs145807002
|
|
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)
|
rs2151082906
|
|
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)
|
rs1598310040
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)
|
rs1966216548
|
|
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe)
|
rs576417383
|
|
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)
|
rs2151058712
|
|
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
|
|
|
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.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
|
rs752076060
|
|
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.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.3396del (p.Gln1132_Val1133insTer)
|
|
|
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)
|
rs1436841364
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu)
|
rs886052092
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.3701+1G>T
|
rs863225219
|
|
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)
|
rs761954313
|
|
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)
|
rs2150909535
|
|
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)
|
rs773361667
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.529+1688_609del
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)
|
rs987512823
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)
|
rs376808910
|
|
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)
|
rs1195150584
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)
|
rs1022259426
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
|
|
|
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)
|
rs886039811
|
|
NM_016464.5(TMEM138):c.*407G>C
|
rs886048410
|
|
NM_016464.5(TMEM138):c.105T>C (p.Pro35=)
|
rs1370730016
|
|
NM_016464.5(TMEM138):c.128+19T>G
|
|
|
NM_016464.5(TMEM138):c.129-10A>G
|
|
|
NM_016464.5(TMEM138):c.129-10dup
|
rs2135157730
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
NM_016464.5(TMEM138):c.129-19C>G
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.129-19C>T
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.129-3C>T
|
|
|
NM_016464.5(TMEM138):c.12C>T (p.Thr4=)
|
rs376500080
|
|
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly)
|
rs1858060748
|
|
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
|
|
|
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
|
|
|
NM_016464.5(TMEM138):c.195C>T (p.Val65=)
|
rs2135158008
|
|
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu)
|
rs1858140604
|
|
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
|
|
|
NM_016464.5(TMEM138):c.204T>C (p.Ala68=)
|
rs2135158047
|
|
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
|
|
|
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln)
|
rs2135158062
|
|
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe)
|
rs1858141854
|
|
NM_016464.5(TMEM138):c.227A>G (p.His76Arg)
|
rs1411782602
|
|
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
|
|
|
NM_016464.5(TMEM138):c.231G>A (p.Lys77=)
|
rs2135158146
|
|
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
|
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys)
|
rs2135158354
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016464.5(TMEM138):c.288T>C (p.His96=)
|
|
|
NM_016464.5(TMEM138):c.300+13G>A
|
rs2135158448
|
|
NM_016464.5(TMEM138):c.301-12C>T
|
|
|
NM_016464.5(TMEM138):c.301-13A>G
|
|
|
NM_016464.5(TMEM138):c.301-16C>T
|
|
|
NM_016464.5(TMEM138):c.301-18A>G
|
|
|
NM_016464.5(TMEM138):c.303C>T (p.Asn101=)
|
rs2135162983
|
|
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)
|
rs771224190
|
|
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
|
|
|
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
|
|
|
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu)
|
rs2135163033
|
|
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile)
|
rs932618021
|
|
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
|
|
|
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
|
|
|
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr)
|
rs1350244778
|
|
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)
|
rs387907134
|
|
NM_016464.5(TMEM138):c.377-11C>T
|
rs749034092
|
|
NM_016464.5(TMEM138):c.377-19T>C
|
|
|
NM_016464.5(TMEM138):c.377-3C>G
|
rs774110963
|
|
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val)
|
rs1045760713
|
|
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser)
|
rs1349854928
|
|
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)
|
rs387907133
|
|
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
|
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016464.5(TMEM138):c.401A>G (p.Tyr134Cys)
|
|
|
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)
|
rs141029883
|
|
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
|
|
|
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu)
|
rs2135165565
|
|
NM_016464.5(TMEM138):c.435C>T (p.His145=)
|
|
|
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
|
|
|
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
|
|
|
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs)
|
rs890070939
|
|
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
|
|
|
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
|
|
|
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
|
|
|
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
|
|
|
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter)
|
rs1000923142
|
|
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys)
|
rs1565076874
|
|
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
|
|
|
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
|
|
|
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)
|
rs2135153244
|
|
NM_016529.6(ATP8A2):c.-1016T>A
|
|
|
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met)
|
rs546968533
|
|
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
|
|
|
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val)
|
rs2039065206
|
|
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
|
|
|
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
|
|
|
NM_016529.6(ATP8A2):c.1474-2del
|
rs2138177530
|
|
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
|
|
|
NM_016529.6(ATP8A2):c.1580-18C>G
|
|
|
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
|
|
|
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)
|
rs1156904586
|
|
NM_016529.6(ATP8A2):c.1868-2A>G
|
rs2039720333
|
|
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)
|
rs1593576872
|
|
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
|
|
|
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
|
|
|
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
|
rs2035763126
|
|
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
|
rs1566306570
|
|
NM_016529.6(ATP8A2):c.2212-1G>C
|
rs2137911082
|
|
NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr)
|
rs1064793377
|
|
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro)
|
rs764092726
|
|
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His)
|
rs796952533
|
|
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)
|
rs1593326999
|
|
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)
|
rs1593410369
|
|
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
|
|
|
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
|
|
|
NM_016529.6(ATP8A2):c.3183+1G>A
|
rs1952385477
|
|
NM_016529.6(ATP8A2):c.3273-3C>G
|
rs748588986
|
|
NM_016529.6(ATP8A2):c.3334C>T (p.Arg1112Ter)
|
rs267603791
|
|
NM_016529.6(ATP8A2):c.3469+1G>C
|
rs763272441
|
|
NM_016529.6(ATP8A2):c.518del (p.Gly173fs)
|
rs2038343394
|
|
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)
|
rs2038491713
|
|
NM_016529.6(ATP8A2):c.709del (p.Thr237fs)
|
rs2137994737
|
|
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys)
|
rs200449118
|
|
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_017651.4(AHI1):c.[2561G>T];[3368C>T]
|
|
|
NM_017777.3(MKS1):c.-34_-12del
|
rs1244307754
|
|
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
|
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)
|
rs1555598065
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
|
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)
|
rs1555597302
|
|
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)
|
rs1555597266
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT
|
rs1555597194
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
|
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
|
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)
|
rs2143737457
|
|
NM_017777.4(MKS1):c.1491-2A>G
|
rs886038203
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1544G>A (p.Arg515His)
|
rs200658872
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
NM_017777.4(MKS1):c.1588+1G>T
|
rs886038204
|
|
NM_017777.4(MKS1):c.1600C>A (p.Arg534=)
|
rs772719574
|
|
NM_017777.4(MKS1):c.1614del (p.Met539fs)
|
rs1555596555
|
|
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)
|
rs1555596538
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)
|
rs786204222
|
|
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
|
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
|
|
|
NM_017777.4(MKS1):c.418-79G>T
|
|
|
NM_017777.4(MKS1):c.435del (p.Thr146fs)
|
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
|
|
|
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
|
|
|
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
|
|
|
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
|
rs201237547
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
|
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.811C>A (p.His271Asn)
|
rs201771125
|
|
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)
|
rs780100856
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)
|
rs1393510784
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
|
|
|
NM_018294.6(CWF19L1):c.1045-2A>C
|
|
|
NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly)
|
rs1846515941
|
|
NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)
|
|
|
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)
|
rs1846512047
|
|
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)
|
rs1554902760
|
|
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)
|
rs1589611043
|
|
NM_018294.6(CWF19L1):c.1375-2A>G
|
|
|
NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)
|
|
|
NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter)
|
rs2134268636
|
|
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del)
|
rs746710766
|
|
NM_018294.6(CWF19L1):c.1568G>A (p.Arg523His)
|
|
|
NM_018294.6(CWF19L1):c.187+1G>T
|
rs1330992740
|
|
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
|
|
|
NM_018294.6(CWF19L1):c.467del (p.Pro156fs)
|
rs879255654
|
|
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter)
|
rs2134307362
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
NM_018294.6(CWF19L1):c.708+294_1044+1540del
|
|
|
NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)
|
|
|
NM_018294.6(CWF19L1):c.942del (p.Pro315fs)
|
rs749679347
|
|
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter)
|
rs879255653
|
|
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.1018C>G (p.Pro340Ala)
|
|
|
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
|
rs1554416156
|
|
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
|
rs781793746
|
|
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
|
rs184146463
|
|
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
|
rs184146463
|
|
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
|
|
|
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
|
|
|
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)
|
rs2117546322
|
|
NM_018718.3(CEP41):c.1062C>T (p.Ala354=)
|
rs782552317
|
|
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
|
|
|
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)
|
rs781878740
|
|
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
|
rs782746850
|
|
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
|
|
|
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
|
rs1796754986
|
|
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
|
|
|
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser)
|
rs782211413
|
|
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
|
|
|
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
|
rs1797355895
|
|
NM_018718.3(CEP41):c.114A>G (p.Lys38=)
|
rs1554421037
|
|
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
|
|
|
NM_018718.3(CEP41):c.145+16G>C
|
|
|
NM_018718.3(CEP41):c.145+16G>T
|
rs2117627031
|
|
NM_018718.3(CEP41):c.145+7A>G
|
|
|
NM_018718.3(CEP41):c.146-13C>T
|
rs782677555
|
|
NM_018718.3(CEP41):c.146-9A>G
|
rs372039618
|
|
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
|
|
|
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
|
|
|
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
|
|
|
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg)
|
rs1797203213
|
|
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
|
|
|
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
|
|
|
NM_018718.3(CEP41):c.208-5A>T
|
|
|
NM_018718.3(CEP41):c.208-6T>C
|
|
|
NM_018718.3(CEP41):c.208-7C>G
|
rs782769113
|
|
NM_018718.3(CEP41):c.208-7C>T
|
rs782769113
|
|
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
|
|
|
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
|
rs1797171250
|
|
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
|
rs1797171055
|
|
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
|
|
|
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter)
|
rs1562984087
|
|
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro)
|
rs946180222
|
|
NM_018718.3(CEP41):c.258G>A (p.Glu86=)
|
rs1309424611
|
|
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
|
|
|
NM_018718.3(CEP41):c.277+10del
|
rs782128369
|
|
NM_018718.3(CEP41):c.277+17G>A
|
|
|
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
|
rs1797169504
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-9A>C
|
|
|
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
|
|
|
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys)
|
rs2117574982
|
|
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
|
rs149373377
|
|
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
|
rs149373377
|
|
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn)
|
rs150251054
|
|
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
|
|
|
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
|
|
|
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
|
|
|
NM_018718.3(CEP41):c.320C>T (p.Ala107Val)
|
rs141025803
|
|
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
|
|
|
NM_018718.3(CEP41):c.33+10A>G
|
|
|
NM_018718.3(CEP41):c.33+16C>T
|
|
|
NM_018718.3(CEP41):c.33+20C>A
|
|
|
NM_018718.3(CEP41):c.33+2T>G
|
rs1584916464
|
|
NM_018718.3(CEP41):c.33+6G>A
|
rs1798137622
|
|
NM_018718.3(CEP41):c.33G>A (p.Glu11=)
|
rs2117739865
|
|
NM_018718.3(CEP41):c.34-14del
|
|
|
NM_018718.3(CEP41):c.34-17A>G
|
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg)
|
rs782235279
|
|
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
|
|
|
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
|
|
|
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr)
|
rs782508627
|
|
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
|
|
|
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln)
|
rs782614895
|
|
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
|
|
|
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
|
rs782436531
|
|
NM_018718.3(CEP41):c.411A>G (p.Ser137=)
|
rs1796949890
|
|
NM_018718.3(CEP41):c.422+5T>C
|
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-4G>T
|
rs1554417330
|
|
NM_018718.3(CEP41):c.423-9C>G
|
|
|
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
|
|
|
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn)
|
rs782614635
|
|
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
|
rs1797714880
|
|
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
|
rs1170058733
|
|
NM_018718.3(CEP41):c.438T>G (p.Val146=)
|
|
|
NM_018718.3(CEP41):c.468G>A (p.Val156=)
|
rs1796891578
|
|
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg)
|
rs1554417299
|
|
NM_018718.3(CEP41):c.477del (p.Glu160fs)
|
|
|
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile)
|
rs2117565108
|
|
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser)
|
rs1796890244
|
|
NM_018718.3(CEP41):c.513C>T (p.Cys171=)
|
rs922629262
|
|
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
|
|
|
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
|
|
|
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
|
rs782587361
|
|
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
|
|
|
NM_018718.3(CEP41):c.574+7G>C
|
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.575-19C>T
|
|
|
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
|
rs201818904
|
|
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
|
|
|
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala)
|
rs1796855782
|
|
NM_018718.3(CEP41):c.610A>G (p.Met204Val)
|
rs782188831
|
|
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
|
rs1796853863
|
|
NM_018718.3(CEP41):c.642+5C>T
|
rs2117560304
|
|
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
|
rs1796853773
|
|
NM_018718.3(CEP41):c.643-16del
|
rs2117556026
|
|
NM_018718.3(CEP41):c.643-7C>G
|
|
|
NM_018718.3(CEP41):c.643-9del
|
|
|
NM_018718.3(CEP41):c.653A>G (p.His218Arg)
|
rs527896814
|
|
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg)
|
rs1472855500
|
|
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
|
|
|
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
|
|
|
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
|
|
|
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
|
rs1796819026
|
|
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr)
|
rs2117555473
|
|
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
|
rs149052906
|
|
NM_018718.3(CEP41):c.717G>T (p.Met239Ile)
|
rs2117555395
|
|
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
|
|
|
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
|
|
|
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
|
|
|
NM_018718.3(CEP41):c.757+16C>T
|
|
|
NM_018718.3(CEP41):c.757+2T>A
|
|
|
NM_018718.3(CEP41):c.757+5G>A
|
rs909436822
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|
NM_018718.3(CEP41):c.769T>G (p.Leu257Val)
|
rs2117552967
|
|
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
|
rs1050700461
|
|
NM_018718.3(CEP41):c.798T>G (p.Ile266Met)
|
rs2117552869
|
|
NM_018718.3(CEP41):c.7del (p.Leu3fs)
|
rs1798139951
|
|
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)
|
rs2117552856
|
|
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
|
|
|
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
|
rs782120276
|
|
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
|
rs1584901211
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.867C>T (p.Pro289=)
|
rs782385841
|
|
NM_018718.3(CEP41):c.880del (p.Leu294fs)
|
|
|
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser)
|
rs2117552201
|
|
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
|
rs1308536722
|
|
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)
|
rs782610112
|
|
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro)
|
rs2117551648
|
|
NM_018718.3(CEP41):c.954A>G (p.Gln318=)
|
rs2117551629
|
|
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
|
|
|
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
|
|
|
NM_018718.3(CEP41):c.97+12T>G
|
|
|
NM_018718.3(CEP41):c.97+3_97+5del
|
rs2117674119
|
|
NM_018718.3(CEP41):c.973+16C>A
|
rs2117551370
|
|
NM_018718.3(CEP41):c.973+404_1077del
|
rs1796755672
|
|
NM_018718.3(CEP41):c.973+8del
|
rs2117551461
|
|
NM_018718.3(CEP41):c.974-11G>T
|
|
|
NM_018718.3(CEP41):c.974-14C>T
|
|
|
NM_018718.3(CEP41):c.974-19TCTT[3]
|
|
|
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
|
rs782387467
|
|
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
|
rs782387467
|
|
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
|
|
|
NM_018718.3(CEP41):c.98-20A>G
|
|
|
NM_018718.3(CEP41):c.98-2A>G
|
|
|
NM_018718.3(CEP41):c.98-8C>A
|
rs782606521
|
|
NM_018718.3(CEP41):c.98-8C>T
|
|
|
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
|
rs1796760925
|
|
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
|
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)
|
rs2131608743
|
|
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)
|
rs2131605715
|
|
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
|
|
|
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
|
|
|
NM_019892.6(INPP5E):c.473del (p.Gly158fs)
|
rs779450345
|
|
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
|
|
|
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
|
|
|
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
|
|
|
NM_025114.4(CEP290):c.-118C>G
|
rs886049887
|
|
NM_025114.4(CEP290):c.-208C>T
|
rs551070690
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.103-1G>T
|
rs863225188
|
|
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
|
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1310del (p.Lys437fs)
|
rs2137917381
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe)
|
rs1264332374
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.1623+10G>A
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+10G>T
|
rs377529198
|
|
NM_025114.4(CEP290):c.1623+1G>A
|
rs863225186
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)
|
rs1193394531
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)
|
rs2137710225
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.2317dup (p.Ser773fs)
|
rs1555218898
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
NM_025114.4(CEP290):c.2483+5A>G
|
rs2137661741
|
|
NM_025114.4(CEP290):c.251-11del
|
rs752284551
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2697A>G (p.Gln899=)
|
rs770769486
|
|
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)
|
rs1443848622
|
|
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
|
rs2038007630
|
|
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)
|
rs1039332206
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)
|
rs898733071
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
|
rs2037238288
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3176del (p.Ile1059fs)
|
rs863225184
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
|
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)
|
rs2137303851
|
|
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)
|
rs1466311097
|
|
NM_025114.4(CEP290):c.3574-9T>A
|
rs202038547
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
|
rs2036852568
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met)
|
rs375065584
|
|
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala)
|
rs2040372439
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
|
rs2036834615
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)
|
rs2137270029
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4045_4046del (p.Met1349fs)
|
rs2036720274
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=)
|
rs1006145739
|
|
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His)
|
rs184143186
|
|
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)
|
rs1555208870
|
|
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
|
rs1157241942
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
NM_025114.4(CEP290):c.442-23_442-20del
|
rs746139755
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
NM_025114.4(CEP290):c.4599C>T (p.His1533=)
|
rs932264519
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
NM_025114.4(CEP290):c.4705-7A>G
|
rs1367159797
|
|
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)
|
rs886039808
|
|
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_025114.4(CEP290):c.5013-30CA[5]
|
rs759447937
|
|
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)
|
rs1173154577
|
|
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.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
NM_025114.4(CEP290):c.5227-23dup
|
rs747878752
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
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.5512dup (p.Arg1838fs)
|
rs1565822519
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5587-8T>C
|
rs886049878
|
|
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
|
rs777353443
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)
|
rs886049877
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
|
rs764861728
|
|
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)
|
rs779262951
|
|
NM_025114.4(CEP290):c.6135+10T>C
|
rs371097588
|
|
NM_025114.4(CEP290):c.6135+1G>A
|
rs2035114607
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)
|
rs2034578914
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.6523-17_6523-15del
|
rs751359519
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
|
rs2034338160
|
|
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)
|
rs2034330893
|
|
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
|
rs2034240720
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)
|
rs863225187
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.7129+8A>G
|
rs2136623486
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+7T>G
|
rs745813087
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)
|
rs2136546576
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)
|
rs768777116
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.942+6T>G
|
rs886049884
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025114.4(CEP290):c.99C>T (p.Ser33=)
|
rs866917306
|
|
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
|
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
|
|
|
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
|
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr)
|
rs754099015
|
|
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs)
|
rs768820873
|
|
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
|
|
|
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys)
|
rs376622127
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter)
|
rs727502863
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro)
|
rs863223396
|
|
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
|
|
|
NM_032856.5(WDR73):c.400_401del (p.Trp136fs)
|
rs767086146
|
|
NM_032856.5(WDR73):c.41+1G>C
|
|
|
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer)
|
rs2141837067
|
|
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu)
|
rs2141836997
|
|
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
|
|
|
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
|
|
|
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
|
|
|
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln)
|
rs797044993
|
|
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
|
|
|
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)
|
rs1596050297
|
|
NM_032856.5(WDR73):c.710dup (p.Gly238fs)
|
rs1282630153
|
|
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
|
|
|
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp)
|
rs1261931467
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)
|
rs866551482
|
|
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
|
|
|
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)
|
rs1596048227
|
|
NM_032856.5(WDR73):c.888del (p.Phe296fs)
|
rs869320712
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1])
|
rs11267906
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3])
|
rs11267906
|
|
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter)
|
rs201608269
|
|
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter)
|
rs797044994
|
|
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del)
|
rs750338466
|
|
NM_033064.4(ATCAY):c.-375G>T
|
rs886054373
|
|
NM_033064.4(ATCAY):c.-424delC
|
rs564678183
|
|
NM_033064.5(ATCAY):c.*1051T>C
|
rs1599152069
|
|
NM_033064.5(ATCAY):c.*1188G>T
|
rs886054420
|
|
NM_033064.5(ATCAY):c.*1322T>G
|
rs960684972
|
|
NM_033064.5(ATCAY):c.*143G>A
|
rs537298270
|
|
NM_033064.5(ATCAY):c.*1540C>A
|
rs140917952
|
|
NM_033064.5(ATCAY):c.*1660T>G
|
rs1463951003
|
|
NM_033064.5(ATCAY):c.*192_*193del
|
rs796133913
|
|
NM_033064.5(ATCAY):c.*193del
|
rs796133913
|
|
NM_033064.5(ATCAY):c.*1978G>A
|
rs918032296
|
|
NM_033064.5(ATCAY):c.*2297C>A
|
rs886054424
|
|
NM_033064.5(ATCAY):c.*2357G>C
|
rs551091925
|
|
NM_033064.5(ATCAY):c.*2426C>T
|
rs886054426
|
|
NM_033064.5(ATCAY):c.*2497C>T
|
rs143923838
|
|
NM_033064.5(ATCAY):c.*266C>T
|
rs867087852
|
|
NM_033064.5(ATCAY):c.*3202G>A
|
rs1293185068
|
|
NM_033064.5(ATCAY):c.*3319C>T
|
rs2039082103
|
|
NM_033064.5(ATCAY):c.*391C>A
|
rs765579267
|
|
NM_033064.5(ATCAY):c.*391C>T
|
rs765579267
|
|
NM_033064.5(ATCAY):c.*430G>T
|
rs866573378
|
|
NM_033064.5(ATCAY):c.*441G>A
|
rs117035326
|
|
NM_033064.5(ATCAY):c.*441G>C
|
rs117035326
|
|
NM_033064.5(ATCAY):c.*496C>A
|
rs886054417
|
|
NM_033064.5(ATCAY):c.*599T>C
|
rs571828838
|
|
NM_033064.5(ATCAY):c.*608G>C
|
rs926357788
|
|
NM_033064.5(ATCAY):c.*758C>T
|
rs116954582
|
|
NM_033064.5(ATCAY):c.*813G>C
|
rs886054418
|
|
NM_033064.5(ATCAY):c.-41-1022G>A
|
|
|
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
|
|
|
NM_033064.5(ATCAY):c.162C>T (p.Asn54=)
|
rs373392142
|
|
NM_033064.5(ATCAY):c.544+16dup
|
rs140914543
|
|
NM_033064.5(ATCAY):c.545-65T>C
|
rs3810373
|
|
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
|
|
|
NM_033064.5(ATCAY):c.555C>A (p.Gly185=)
|
rs367736161
|
|
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs)
|
rs2145248615
|
|
NM_033064.5(ATCAY):c.647+15G>A
|
rs117167523
|
|
NM_033064.5(ATCAY):c.647+15G>C
|
rs117167523
|
|
NM_033064.5(ATCAY):c.678G>A (p.Val226=)
|
rs886054415
|
|
NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp)
|
rs2038904766
|
|
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]
|
|
|
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)
|
rs1575477812
|
|
NM_033402.5(LRRCC1):c.105-1G>C
|
rs886039794
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)
|
rs2108007892
|
|
NM_153240.5(NPHP3):c.1888-7_1893del
|
rs1553773296
|
|
NM_153240.5(NPHP3):c.52del (p.Asp18fs)
|
rs2108008280
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
|
|
|
NM_153704.6(TMEM67):c.1288+15C>T
|
rs1057523004
|
|
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln)
|
rs199708882
|
|
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu)
|
rs1486419446
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
NM_153704.6(TMEM67):c.1675-10dup
|
rs752404927
|
|
NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
|
|
|
NM_153704.6(TMEM67):c.1961-2A>C
|
rs758948621
|
|
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
|
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
NM_153704.6(TMEM67):c.232T>G (p.Cys78Gly)
|
|
|
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)
|
rs1554558363
|
|
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
|
|
|
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr)
|
rs2130780313
|
|
NM_153704.6(TMEM67):c.2556+1G>T
|
rs786200867
|
|
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)
|
rs886039810
|
|
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val)
|
rs758638902
|
|
NM_153704.6(TMEM67):c.313-13dup
|
rs367575555
|
|
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)
|
rs1554615516
|
|
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
|
rs868404889
|
|
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg)
|
rs143495661
|
|
Single allele
|
|
|