NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
NM_001044385.3(TMEM237):c.274+23A>G
|
rs1208081
|
0.64988
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
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_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_018718.3(CEP41):c.*4295G>C
|
rs4728195
|
0.36596
|
NM_017777.4(MKS1):c.261+67A>G
|
rs7225148
|
0.34782
|
NM_017651.4(AHI1):c.-293G>T
|
rs13197384
|
0.29491
|
NM_001134831.2(AHI1):c.*218C>T
|
rs1052502
|
0.27386
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_018718.3(CEP41):c.*4037A>G
|
rs7793239
|
0.23508
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
NM_015272.5(RPGRIP1L):c.3432+67G>A
|
rs113961478
|
0.19784
|
NM_018718.3(CEP41):c.*2041G>A
|
rs73152868
|
0.18522
|
NM_018718.3(CEP41):c.*1859G>T
|
rs73152869
|
0.17105
|
NM_018718.3(CEP41):c.*1931C>T
|
rs17133175
|
0.15684
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
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_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_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
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_001134831.2(AHI1):c.-299G>A
|
rs113052089
|
0.03529
|
NM_001128178.3(NPHP1):c.771+39C>T
|
rs73954628
|
0.03266
|
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_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_018718.3(CEP41):c.*927T>C
|
rs73152870
|
0.02074
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
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_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
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_018718.3(CEP41):c.*3765G>T
|
rs138768326
|
0.01276
|
NM_001044385.3(TMEM237):c.-12G>A
|
rs113186360
|
0.01229
|
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)
|
rs113450177
|
0.01140
|
NM_001134831.2(AHI1):c.804A>C (p.Ser268=)
|
rs35528530
|
0.01078
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_018718.3(CEP41):c.*3783T>C
|
rs117071818
|
0.01015
|
NM_001044385.3(TMEM237):c.*1489G>C
|
rs78220061
|
0.00855
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=)
|
rs115338154
|
0.00537
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr)
|
rs146416468
|
0.00348
|
NM_018718.3(CEP41):c.*2482A>T
|
rs189091601
|
0.00317
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
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.396-14C>T
|
rs74411816
|
0.00210
|
NM_018718.3(CEP41):c.*655C>T
|
rs141441037
|
0.00185
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_001044385.3(TMEM237):c.*564T>C
|
rs141560423
|
0.00113
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
NM_018718.3(CEP41):c.*3856C>T
|
rs187532705
|
0.00082
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
NM_018718.3(CEP41):c.*4595G>A
|
rs117814753
|
0.00046
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001134831.2(AHI1):c.*28G>C
|
rs9494209
|
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|